## ENSEMBL VARIANT EFFECT PREDICTOR v106.0 ## Output produced at 2022-07-21 15:30:18 ## Using cache in /nfs/production/flicek/ensembl/variation/data/VEP/tabixconverted/homo_sapiens/106_GRCh38 ## Using API version 108, DB version ? ## polyphen version 2.2.2 ## sift version sift5.2.2 ## COSMIC version 92 ## 1000genomes version phase3 ## ESP version V2-SSA137 ## gnomAD version r2.1.1 ## gencode version GENCODE 40 ## HGMD-PUBLIC version 20204 ## genebuild version 2014-07 ## regbuild version 1.0 ## ClinVar version 202109 ## assembly version GRCh38.p13 ## dbSNP version 154 ## Column descriptions: ## Uploaded_variation : Identifier of uploaded variant ## Location : Location of variant in standard coordinate format (chr:start or chr:start-end) ## Allele : The variant allele used to calculate the consequence ## Gene : Stable ID of affected gene ## Feature : Stable ID of feature ## Feature_type : Type of feature - Transcript, RegulatoryFeature or MotifFeature ## Consequence : Consequence type ## cDNA_position : Relative position of base pair in cDNA sequence ## CDS_position : Relative position of base pair in coding sequence ## Protein_position : Relative position of amino acid in protein ## Amino_acids : Reference and variant amino acids ## Codons : Reference and variant codon sequence ## Existing_variation : Identifier(s) of co-located known variants ## Extra column keys: ## IND : Individual name ## ZYG : Zygosity of individual genotype at this locus ## IMPACT : Subjective impact classification of consequence type ## DISTANCE : Shortest distance from variant to transcript ## STRAND : Strand of the feature (1/-1) ## FLAGS : Transcript quality flags ## SYMBOL : Gene symbol (e.g. HGNC) ## SYMBOL_SOURCE : Source of gene symbol ## HGNC_ID : Stable identifer of HGNC gene symbol ## SIFT : SIFT prediction and/or score ## PolyPhen : PolyPhen prediction and/or score ## AF : Frequency of existing variant in 1000 Genomes combined population ## AFR_AF : Frequency of existing variant in 1000 Genomes combined African population ## AMR_AF : Frequency of existing variant in 1000 Genomes combined American population ## EAS_AF : Frequency of existing variant in 1000 Genomes combined East Asian population ## EUR_AF : Frequency of existing variant in 1000 Genomes combined European population ## SAS_AF : Frequency of existing variant in 1000 Genomes combined South Asian population ## gnomAD_AF : Frequency of existing variant in gnomAD exomes combined population ## gnomAD_AFR_AF : Frequency of existing variant in gnomAD exomes African/American population ## gnomAD_AMR_AF : Frequency of existing variant in gnomAD exomes American population ## gnomAD_ASJ_AF : Frequency of existing variant in gnomAD exomes Ashkenazi Jewish population ## gnomAD_EAS_AF : Frequency of existing variant in gnomAD exomes East Asian population ## gnomAD_FIN_AF : Frequency of existing variant in gnomAD exomes Finnish population ## gnomAD_NFE_AF : Frequency of existing variant in gnomAD exomes Non-Finnish European population ## gnomAD_OTH_AF : Frequency of existing variant in gnomAD exomes other combined populations ## gnomAD_SAS_AF : Frequency of existing variant in gnomAD exomes South Asian population ## CLIN_SIG : ClinVar clinical significance of the dbSNP variant ## SOMATIC : Somatic status of existing variant ## PHENO : Indicates if existing variant(s) is associated with a phenotype, disease or trait; multiple values correspond to multiple variants ## G2P_complete : Indicates this variant completes the allelic requirements for a G2P gene ## G2P_flag : Flags zygosity of valid variants for a G2P gene ## G2P_gene_req : MONO or BI depending on the context in which this gene has been explored #Uploaded_variation Location Allele Gene Feature Feature_type Consequence cDNA_position CDS_position Protein_position Amino_acids Codons Existing_variation Extra rs781123070 1:92246599 C ENSG00000174842 ENST00000370360 Transcript synonymous_variant 1809 1716 572 L ctA/ctG rs781123070 IND=P1;ZYG=HOM;IMPACT=LOW;STRAND=-1;SYMBOL=GLMN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14373;gnomAD_AF=7.973e-06;gnomAD_AFR_AF=0.0001233;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs781123070 1:92246599 C ENSG00000203910 ENST00000370373 Transcript downstream_gene_variant - - - - - rs781123070 IND=P1;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=884;STRAND=1;SYMBOL=C1orf146;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24032;gnomAD_AF=7.973e-06;gnomAD_AFR_AF=0.0001233;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs781123070 1:92246599 C ENSG00000203910 ENST00000370375 Transcript downstream_gene_variant - - - - - rs781123070 IND=P1;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=786;STRAND=1;SYMBOL=C1orf146;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24032;gnomAD_AF=7.973e-06;gnomAD_AFR_AF=0.0001233;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs781123070 1:92246599 C ENSG00000174842 ENST00000471465 Transcript non_coding_transcript_exon_variant 662 - - - - rs781123070 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=GLMN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14373;gnomAD_AF=7.973e-06;gnomAD_AFR_AF=0.0001233;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs781123070 1:92246599 C ENSG00000174842 ENST00000495106 Transcript 3_prime_UTR_variant,NMD_transcript_variant 1724 - - - - rs781123070 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=GLMN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14373;gnomAD_AF=7.973e-06;gnomAD_AFR_AF=0.0001233;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs781123070 1:92246599 C ENSG00000174842 ENST00000495852 Transcript downstream_gene_variant - - - - - rs781123070 IND=P1;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=463;STRAND=-1;FLAGS=cds_start_NF,cds_end_NF;SYMBOL=GLMN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14373;gnomAD_AF=7.973e-06;gnomAD_AFR_AF=0.0001233;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs772838108 1:92247900 C ENSG00000174842 ENST00000370360 Transcript synonymous_variant 1656 1563 521 E gaA/gaG rs772838108 IND=P1;ZYG=HOM;IMPACT=LOW;STRAND=-1;SYMBOL=GLMN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14373;gnomAD_AF=4.003e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=2.9e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs772838108 1:92247900 C ENSG00000203910 ENST00000370373 Transcript downstream_gene_variant - - - - - rs772838108 IND=P1;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=2185;STRAND=1;SYMBOL=C1orf146;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24032;gnomAD_AF=4.003e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=2.9e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs772838108 1:92247900 C ENSG00000203910 ENST00000370375 Transcript downstream_gene_variant - - - - - rs772838108 IND=P1;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=2087;STRAND=1;SYMBOL=C1orf146;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24032;gnomAD_AF=4.003e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=2.9e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs772838108 1:92247900 C ENSG00000174842 ENST00000471465 Transcript non_coding_transcript_exon_variant 509 - - - - rs772838108 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=GLMN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14373;gnomAD_AF=4.003e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=2.9e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs772838108 1:92247900 C ENSG00000174842 ENST00000495106 Transcript 3_prime_UTR_variant,NMD_transcript_variant 1571 - - - - rs772838108 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=GLMN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14373;gnomAD_AF=4.003e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=2.9e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs772838108 1:92247900 C ENSG00000174842 ENST00000495852 Transcript synonymous_variant 786 786 262 E gaA/gaG rs772838108 IND=P1;ZYG=HOM;IMPACT=LOW;STRAND=-1;FLAGS=cds_start_NF,cds_end_NF;SYMBOL=GLMN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14373;gnomAD_AF=4.003e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=2.9e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs369086477 1:92266412 A ENSG00000174842 ENST00000370360 Transcript splice_region_variant,intron_variant - - - - - rs369086477 IND=P1;ZYG=HOM;IMPACT=LOW;STRAND=-1;SYMBOL=GLMN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14373;gnomAD_AF=2.426e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=5.838e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=3.572e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs369086477 1:92266412 A ENSG00000174842 ENST00000463560 Transcript intron_variant - - - - - rs369086477 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;FLAGS=cds_start_NF,cds_end_NF;SYMBOL=GLMN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14373;gnomAD_AF=2.426e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=5.838e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=3.572e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs369086477 1:92266412 A ENSG00000174842 ENST00000495106 Transcript splice_region_variant,intron_variant,NMD_transcript_variant - - - - - rs369086477 IND=P1;ZYG=HOM;IMPACT=LOW;STRAND=-1;SYMBOL=GLMN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14373;gnomAD_AF=2.426e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=5.838e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=3.572e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs369086477 1:92266412 A ENSG00000174842 ENST00000495852 Transcript splice_region_variant,intron_variant - - - - - rs369086477 IND=P1;ZYG=HOM;IMPACT=LOW;STRAND=-1;FLAGS=cds_start_NF,cds_end_NF;SYMBOL=GLMN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14373;gnomAD_AF=2.426e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=5.838e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=3.572e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1397019423 1:92266456 A ENSG00000174842 ENST00000370360 Transcript missense_variant 1270 1177 393 N/Y Aac/Tac rs1397019423 IND=P1;ZYG=HOM;IMPACT=MODERATE;STRAND=-1;SYMBOL=GLMN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14373;SIFT=deleterious(0);PolyPhen=benign(0.12);gnomAD_AF=4.012e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=8.86e-06;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;G2P_complete=monoallelic_autosomal=HOM:1_92266456_T/A;G2P_flag=monoallelic_autosomal=HOM rs1397019423 1:92266456 A ENSG00000174842 ENST00000463560 Transcript intron_variant - - - - - rs1397019423 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;FLAGS=cds_start_NF,cds_end_NF;SYMBOL=GLMN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14373;gnomAD_AF=4.012e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=8.86e-06;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1397019423 1:92266456 A ENSG00000174842 ENST00000495106 Transcript missense_variant,NMD_transcript_variant 1270 1177 393 N/Y Aac/Tac rs1397019423 IND=P1;ZYG=HOM;IMPACT=MODERATE;STRAND=-1;SYMBOL=GLMN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14373;SIFT=deleterious(0);PolyPhen=benign(0.444);gnomAD_AF=4.012e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=8.86e-06;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;G2P_complete=monoallelic_autosomal=HOM:1_92266456_T/A;G2P_flag=monoallelic_autosomal=HOM rs1397019423 1:92266456 A ENSG00000174842 ENST00000495852 Transcript missense_variant 400 400 134 N/Y Aac/Tac rs1397019423 IND=P1;ZYG=HOM;IMPACT=MODERATE;STRAND=-1;FLAGS=cds_start_NF,cds_end_NF;SYMBOL=GLMN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14373;SIFT=deleterious(0);PolyPhen=possibly_damaging(0.458);gnomAD_AF=4.012e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=8.86e-06;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;G2P_complete=monoallelic_autosomal=HOM:1_92266456_T/A;G2P_flag=monoallelic_autosomal=HOM rs749444788 1:92267915 A ENSG00000174842 ENST00000370360 Transcript stop_gained,splice_region_variant 1189 1096 366 Q/* Cag/Tag rs749444788 IND=P1;ZYG=HOM;IMPACT=HIGH;STRAND=-1;SYMBOL=GLMN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14373;gnomAD_AF=3.991e-06;gnomAD_AFR_AF=6.328e-05;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;G2P_complete=monoallelic_autosomal=HOM:1_92267915_G/A&HOM:1_92266456_T/A;G2P_flag=monoallelic_autosomal=HOM rs749444788 1:92267915 A ENSG00000174842 ENST00000463560 Transcript stop_gained,splice_region_variant 464 466 156 Q/* Cag/Tag rs749444788 IND=P1;ZYG=HOM;IMPACT=HIGH;STRAND=-1;FLAGS=cds_start_NF,cds_end_NF;SYMBOL=GLMN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14373;gnomAD_AF=3.991e-06;gnomAD_AFR_AF=6.328e-05;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;G2P_complete=monoallelic_autosomal=HOM:1_92267915_G/A;G2P_flag=monoallelic_autosomal=HOM rs749444788 1:92267915 A ENSG00000174842 ENST00000495106 Transcript stop_gained,splice_region_variant,NMD_transcript_variant 1189 1096 366 Q/* Cag/Tag rs749444788 IND=P1;ZYG=HOM;IMPACT=HIGH;STRAND=-1;SYMBOL=GLMN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14373;gnomAD_AF=3.991e-06;gnomAD_AFR_AF=6.328e-05;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;G2P_complete=monoallelic_autosomal=HOM:1_92267915_G/A&HOM:1_92266456_T/A;G2P_flag=monoallelic_autosomal=HOM rs749444788 1:92267915 A ENSG00000174842 ENST00000495852 Transcript stop_gained,splice_region_variant 361 361 121 Q/* Cag/Tag rs749444788 IND=P1;ZYG=HOM;IMPACT=HIGH;STRAND=-1;FLAGS=cds_start_NF,cds_end_NF;SYMBOL=GLMN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14373;gnomAD_AF=3.991e-06;gnomAD_AFR_AF=6.328e-05;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;G2P_complete=monoallelic_autosomal=HOM:1_92267915_G/A&HOM:1_92266456_T/A;G2P_flag=monoallelic_autosomal=HOM rs765662791 1:92297559 C ENSG00000174842 ENST00000370360 Transcript intron_variant - - - - - rs765662791 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=GLMN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14373;gnomAD_AF=4.366e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=3.97e-05 rs765662791 1:92297559 C ENSG00000122484 ENST00000484158 Transcript upstream_gene_variant - - - - - rs765662791 IND=P1;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=1526;STRAND=1;SYMBOL=RPAP2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25791;gnomAD_AF=4.366e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=3.97e-05 rs765662791 1:92297559 C ENSG00000174842 ENST00000487911 Transcript non_coding_transcript_exon_variant 534 - - - - rs765662791 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=GLMN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14373;gnomAD_AF=4.366e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=3.97e-05 rs765662791 1:92297559 C ENSG00000174842 ENST00000495106 Transcript intron_variant,NMD_transcript_variant - - - - - rs765662791 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=GLMN;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14373;gnomAD_AF=4.366e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=3.97e-05 rs765662791 1:92297559 C ENSG00000122484 ENST00000610020 Transcript upstream_gene_variant - - - - - rs765662791 IND=P1;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=1500;STRAND=1;SYMBOL=RPAP2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25791;gnomAD_AF=4.366e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=3.97e-05 rs548813950 1:173477493 T ENSG00000117592 ENST00000340385 Transcript splice_donor_variant - - - - - rs548813950,COSV61165455 IND=P1;ZYG=HET;IMPACT=HIGH;STRAND=1;SYMBOL=PRDX6;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16753;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=1.276e-05;gnomAD_AFR_AF=0.000145;gnomAD_AMR_AF=3.101e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs548813950 1:173477493 T ENSG00000117592 ENST00000460950 Transcript splice_donor_variant,non_coding_transcript_variant - - - - - rs548813950,COSV61165455 IND=P1;ZYG=HET;IMPACT=HIGH;STRAND=1;SYMBOL=PRDX6;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16753;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=1.276e-05;gnomAD_AFR_AF=0.000145;gnomAD_AMR_AF=3.101e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs548813950 1:173477493 T ENSG00000117592 ENST00000470017 Transcript upstream_gene_variant - - - - - rs548813950,COSV61165455 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=3706;STRAND=1;SYMBOL=PRDX6;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16753;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=1.276e-05;gnomAD_AFR_AF=0.000145;gnomAD_AMR_AF=3.101e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs548813950 1:173477493 T ENSG00000203739 ENST00000659863 Transcript intron_variant,non_coding_transcript_variant - - - - - rs548813950,COSV61165455 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=PRDX6-AS1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:54870;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=1.276e-05;gnomAD_AFR_AF=0.000145;gnomAD_AMR_AF=3.101e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs548813950 1:173477493 T ENSG00000203739 ENST00000660739 Transcript upstream_gene_variant - - - - - rs548813950,COSV61165455 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=497;STRAND=-1;SYMBOL=PRDX6-AS1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:54870;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=1.276e-05;gnomAD_AFR_AF=0.000145;gnomAD_AMR_AF=3.101e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs548813950 1:173477493 T ENSG00000203739 ENST00000661267 Transcript upstream_gene_variant - - - - - rs548813950,COSV61165455 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=322;STRAND=-1;SYMBOL=PRDX6-AS1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:54870;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=1.276e-05;gnomAD_AFR_AF=0.000145;gnomAD_AMR_AF=3.101e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs548813950 1:173477493 T ENSG00000203739 ENST00000669220 Transcript intron_variant,non_coding_transcript_variant - - - - - rs548813950,COSV61165455 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=PRDX6-AS1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:54870;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=1.276e-05;gnomAD_AFR_AF=0.000145;gnomAD_AMR_AF=3.101e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs548813950 1:173477493 T ENSG00000203739 ENST00000684789 Transcript upstream_gene_variant - - - - - rs548813950,COSV61165455 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=443;STRAND=-1;SYMBOL=PRDX6-AS1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:54870;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=1.276e-05;gnomAD_AFR_AF=0.000145;gnomAD_AMR_AF=3.101e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs548813950 1:173477493 T ENSG00000203739 ENST00000688677 Transcript upstream_gene_variant - - - - - rs548813950,COSV61165455 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=379;STRAND=-1;SYMBOL=PRDX6-AS1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:54870;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=1.276e-05;gnomAD_AFR_AF=0.000145;gnomAD_AMR_AF=3.101e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs548813950 1:173477493 T ENSG00000203739 ENST00000689755 Transcript upstream_gene_variant - - - - - rs548813950,COSV61165455 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=443;STRAND=-1;SYMBOL=PRDX6-AS1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:54870;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=1.276e-05;gnomAD_AFR_AF=0.000145;gnomAD_AMR_AF=3.101e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs189181166 1:173480569 C ENSG00000117592 ENST00000340385 Transcript intron_variant - - - - - rs189181166 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=PRDX6;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16753;AF=0.0016;AFR_AF=0.0061;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs189181166 1:173480569 C ENSG00000117592 ENST00000460950 Transcript intron_variant,non_coding_transcript_variant - - - - - rs189181166 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=PRDX6;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16753;AF=0.0016;AFR_AF=0.0061;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs189181166 1:173480569 C ENSG00000117592 ENST00000470017 Transcript upstream_gene_variant - - - - - rs189181166 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=630;STRAND=1;SYMBOL=PRDX6;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16753;AF=0.0016;AFR_AF=0.0061;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs189181166 1:173480569 C ENSG00000203739 ENST00000659863 Transcript upstream_gene_variant - - - - - rs189181166 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2500;STRAND=-1;SYMBOL=PRDX6-AS1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:54870;AF=0.0016;AFR_AF=0.0061;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs189181166 1:173480569 C ENSG00000203739 ENST00000660739 Transcript upstream_gene_variant - - - - - rs189181166 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=3573;STRAND=-1;SYMBOL=PRDX6-AS1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:54870;AF=0.0016;AFR_AF=0.0061;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs189181166 1:173480569 C ENSG00000203739 ENST00000661267 Transcript upstream_gene_variant - - - - - rs189181166 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=3398;STRAND=-1;SYMBOL=PRDX6-AS1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:54870;AF=0.0016;AFR_AF=0.0061;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs189181166 1:173480569 C ENSG00000203739 ENST00000669220 Transcript intron_variant,non_coding_transcript_variant - - - - - rs189181166 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=PRDX6-AS1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:54870;AF=0.0016;AFR_AF=0.0061;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs189181166 1:173480569 C ENSG00000203739 ENST00000684789 Transcript upstream_gene_variant - - - - - rs189181166 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=3519;STRAND=-1;SYMBOL=PRDX6-AS1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:54870;AF=0.0016;AFR_AF=0.0061;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs189181166 1:173480569 C ENSG00000203739 ENST00000688677 Transcript upstream_gene_variant - - - - - rs189181166 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=3455;STRAND=-1;SYMBOL=PRDX6-AS1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:54870;AF=0.0016;AFR_AF=0.0061;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs189181166 1:173480569 C ENSG00000203739 ENST00000689755 Transcript upstream_gene_variant - - - - - rs189181166 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=3519;STRAND=-1;SYMBOL=PRDX6-AS1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:54870;AF=0.0016;AFR_AF=0.0061;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs142496350 1:173481263 T ENSG00000117592 ENST00000340385 Transcript intron_variant - - - - - rs142496350 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=PRDX6;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16753;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs142496350 1:173481263 T ENSG00000117592 ENST00000460950 Transcript intron_variant,non_coding_transcript_variant - - - - - rs142496350 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=PRDX6;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16753;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs142496350 1:173481263 T ENSG00000117592 ENST00000470017 Transcript non_coding_transcript_exon_variant 65 - - - - rs142496350 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=PRDX6;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16753;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs142496350 1:173481263 T ENSG00000203739 ENST00000659863 Transcript upstream_gene_variant - - - - - rs142496350 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=3194;STRAND=-1;SYMBOL=PRDX6-AS1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:54870;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs142496350 1:173481263 T ENSG00000203739 ENST00000660739 Transcript upstream_gene_variant - - - - - rs142496350 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=4267;STRAND=-1;SYMBOL=PRDX6-AS1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:54870;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs142496350 1:173481263 T ENSG00000203739 ENST00000661267 Transcript upstream_gene_variant - - - - - rs142496350 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=4092;STRAND=-1;SYMBOL=PRDX6-AS1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:54870;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs142496350 1:173481263 T ENSG00000203739 ENST00000669220 Transcript intron_variant,non_coding_transcript_variant - - - - - rs142496350 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=PRDX6-AS1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:54870;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs142496350 1:173481263 T ENSG00000203739 ENST00000684789 Transcript upstream_gene_variant - - - - - rs142496350 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=4213;STRAND=-1;SYMBOL=PRDX6-AS1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:54870;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs142496350 1:173481263 T ENSG00000203739 ENST00000688677 Transcript upstream_gene_variant - - - - - rs142496350 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=4149;STRAND=-1;SYMBOL=PRDX6-AS1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:54870;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs142496350 1:173481263 T ENSG00000203739 ENST00000689755 Transcript upstream_gene_variant - - - - - rs142496350 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=4213;STRAND=-1;SYMBOL=PRDX6-AS1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:54870;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs185687387 1:173482715 G ENSG00000117592 ENST00000340385 Transcript intron_variant - - - - - rs185687387 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=PRDX6;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16753;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs185687387 1:173482715 G ENSG00000117592 ENST00000460950 Transcript downstream_gene_variant - - - - - rs185687387 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=744;STRAND=1;SYMBOL=PRDX6;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16753;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs185687387 1:173482715 G ENSG00000117592 ENST00000470017 Transcript intron_variant,non_coding_transcript_variant - - - - - rs185687387 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=PRDX6;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16753;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs185687387 1:173482715 G ENSG00000203739 ENST00000659863 Transcript upstream_gene_variant - - - - - rs185687387 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=4646;STRAND=-1;SYMBOL=PRDX6-AS1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:54870;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs185687387 1:173482715 G ENSG00000203739 ENST00000669220 Transcript intron_variant,non_coding_transcript_variant - - - - - rs185687387 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=PRDX6-AS1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:54870;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs75905143 1:173483348 G ENSG00000117592 ENST00000340385 Transcript intron_variant - - - - - rs75905143 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=PRDX6;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16753;AF=0.0028;AFR_AF=0;AMR_AF=0.0086;EAS_AF=0;EUR_AF=0.006;SAS_AF=0.002 rs75905143 1:173483348 G ENSG00000117592 ENST00000460950 Transcript downstream_gene_variant - - - - - rs75905143 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=1377;STRAND=1;SYMBOL=PRDX6;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16753;AF=0.0028;AFR_AF=0;AMR_AF=0.0086;EAS_AF=0;EUR_AF=0.006;SAS_AF=0.002 rs75905143 1:173483348 G ENSG00000117592 ENST00000470017 Transcript intron_variant,non_coding_transcript_variant - - - - - rs75905143 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=PRDX6;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16753;AF=0.0028;AFR_AF=0;AMR_AF=0.0086;EAS_AF=0;EUR_AF=0.006;SAS_AF=0.002 rs75905143 1:173483348 G ENSG00000203739 ENST00000669220 Transcript intron_variant,non_coding_transcript_variant - - - - - rs75905143 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=PRDX6-AS1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:54870;AF=0.0028;AFR_AF=0;AMR_AF=0.0086;EAS_AF=0;EUR_AF=0.006;SAS_AF=0.002 rs34128582 1:173483476 A ENSG00000117592 ENST00000340385 Transcript intron_variant - - - - - rs34128582 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=PRDX6;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16753;AF=0.0070;AFR_AF=0.0265;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs34128582 1:173483476 A ENSG00000117592 ENST00000460950 Transcript downstream_gene_variant - - - - - rs34128582 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=1505;STRAND=1;SYMBOL=PRDX6;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16753;AF=0.0070;AFR_AF=0.0265;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs34128582 1:173483476 A ENSG00000117592 ENST00000470017 Transcript intron_variant,non_coding_transcript_variant - - - - - rs34128582 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=PRDX6;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16753;AF=0.0070;AFR_AF=0.0265;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs34128582 1:173483476 A ENSG00000203739 ENST00000669220 Transcript intron_variant,non_coding_transcript_variant - - - - - rs34128582 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=PRDX6-AS1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:54870;AF=0.0070;AFR_AF=0.0265;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs547821253 1:173484443 C ENSG00000117592 ENST00000340385 Transcript intron_variant - - - - - rs547821253 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=PRDX6;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16753;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs547821253 1:173484443 C ENSG00000117592 ENST00000460950 Transcript downstream_gene_variant - - - - - rs547821253 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2472;STRAND=1;SYMBOL=PRDX6;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16753;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs547821253 1:173484443 C ENSG00000117592 ENST00000470017 Transcript intron_variant,non_coding_transcript_variant - - - - - rs547821253 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=PRDX6;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16753;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs547821253 1:173484443 C ENSG00000203739 ENST00000669220 Transcript intron_variant,non_coding_transcript_variant - - - - - rs547821253 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=PRDX6-AS1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:54870;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs144793169 1:173485872 T ENSG00000117592 ENST00000340385 Transcript intron_variant - - - - - rs144793169 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=PRDX6;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16753;AF=0.0010;AFR_AF=0.0038;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs144793169 1:173485872 T ENSG00000117592 ENST00000460950 Transcript downstream_gene_variant - - - - - rs144793169 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=3901;STRAND=1;SYMBOL=PRDX6;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16753;AF=0.0010;AFR_AF=0.0038;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs144793169 1:173485872 T ENSG00000117592 ENST00000470017 Transcript intron_variant,non_coding_transcript_variant - - - - - rs144793169 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=PRDX6;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16753;AF=0.0010;AFR_AF=0.0038;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs144793169 1:173485872 T ENSG00000203739 ENST00000669220 Transcript intron_variant,non_coding_transcript_variant - - - - - rs144793169 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=PRDX6-AS1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:54870;AF=0.0010;AFR_AF=0.0038;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs376388685 1:173486225 C ENSG00000117592 ENST00000340385 Transcript intron_variant - - - - - rs376388685 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=PRDX6;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16753;AF=0.0008;AFR_AF=0.003;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=9.551e-05;gnomAD_AFR_AF=0.001071;gnomAD_AMR_AF=0.0001254;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0.0002097;gnomAD_SAS_AF=0 rs376388685 1:173486225 C ENSG00000117592 ENST00000460950 Transcript downstream_gene_variant - - - - - rs376388685 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=4254;STRAND=1;SYMBOL=PRDX6;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16753;AF=0.0008;AFR_AF=0.003;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=9.551e-05;gnomAD_AFR_AF=0.001071;gnomAD_AMR_AF=0.0001254;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0.0002097;gnomAD_SAS_AF=0 rs376388685 1:173486225 C ENSG00000117592 ENST00000470017 Transcript intron_variant,non_coding_transcript_variant - - - - - rs376388685 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=PRDX6;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16753;AF=0.0008;AFR_AF=0.003;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=9.551e-05;gnomAD_AFR_AF=0.001071;gnomAD_AMR_AF=0.0001254;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0.0002097;gnomAD_SAS_AF=0 rs376388685 1:173486225 C ENSG00000203739 ENST00000669220 Transcript intron_variant,non_coding_transcript_variant - - - - - rs376388685 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=PRDX6-AS1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:54870;AF=0.0008;AFR_AF=0.003;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=9.551e-05;gnomAD_AFR_AF=0.001071;gnomAD_AMR_AF=0.0001254;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0.0002097;gnomAD_SAS_AF=0 rs540767582 1:173486896 C ENSG00000117592 ENST00000340385 Transcript intron_variant - - - - - rs540767582,COSV61165143 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=PRDX6;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16753;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs540767582 1:173486896 C ENSG00000117592 ENST00000460950 Transcript downstream_gene_variant - - - - - rs540767582,COSV61165143 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=4925;STRAND=1;SYMBOL=PRDX6;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16753;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs540767582 1:173486896 C ENSG00000117592 ENST00000470017 Transcript intron_variant,non_coding_transcript_variant - - - - - rs540767582,COSV61165143 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=PRDX6;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16753;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs540767582 1:173486896 C ENSG00000203739 ENST00000669220 Transcript intron_variant,non_coding_transcript_variant - - - - - rs540767582,COSV61165143 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=PRDX6-AS1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:54870;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs150412665 1:173487126 G ENSG00000117592 ENST00000340385 Transcript intron_variant - - - - - rs150412665 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=PRDX6;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16753;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs150412665 1:173487126 G ENSG00000117592 ENST00000470017 Transcript intron_variant,non_coding_transcript_variant - - - - - rs150412665 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=PRDX6;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16753;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs150412665 1:173487126 G ENSG00000203739 ENST00000669220 Transcript intron_variant,non_coding_transcript_variant - - - - - rs150412665 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=PRDX6-AS1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:54870;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs538233696 1:173488011 G ENSG00000117592 ENST00000340385 Transcript 3_prime_UTR_variant 886 - - - - rs538233696 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=PRDX6;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16753;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs538233696 1:173488011 G ENSG00000117592 ENST00000470017 Transcript non_coding_transcript_exon_variant 855 - - - - rs538233696 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=PRDX6;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16753;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs538233696 1:173488011 G ENSG00000203739 ENST00000669220 Transcript intron_variant,non_coding_transcript_variant - - - - - rs538233696 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=PRDX6-AS1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:54870;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs571239002 1:173488343 A ENSG00000117592 ENST00000340385 Transcript 3_prime_UTR_variant 1218 - - - - rs571239002 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=PRDX6;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16753;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs571239002 1:173488343 A ENSG00000117592 ENST00000470017 Transcript downstream_gene_variant - - - - - rs571239002 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=328;STRAND=1;SYMBOL=PRDX6;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16753;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs571239002 1:173488343 A ENSG00000203739 ENST00000669220 Transcript intron_variant,non_coding_transcript_variant - - - - - rs571239002 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=PRDX6-AS1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:54870;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs74819145 1:173488366 G ENSG00000117592 ENST00000340385 Transcript 3_prime_UTR_variant 1241 - - - - rs74819145 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=PRDX6;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16753;AF=0.0088;AFR_AF=0.0318;AMR_AF=0;EAS_AF=0;EUR_AF=0.002;SAS_AF=0 rs74819145 1:173488366 G ENSG00000117592 ENST00000470017 Transcript downstream_gene_variant - - - - - rs74819145 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=351;STRAND=1;SYMBOL=PRDX6;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16753;AF=0.0088;AFR_AF=0.0318;AMR_AF=0;EAS_AF=0;EUR_AF=0.002;SAS_AF=0 rs74819145 1:173488366 G ENSG00000203739 ENST00000669220 Transcript intron_variant,non_coding_transcript_variant - - - - - rs74819145 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=PRDX6-AS1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:54870;AF=0.0088;AFR_AF=0.0318;AMR_AF=0;EAS_AF=0;EUR_AF=0.002;SAS_AF=0 rs1164696192 1:206768586 A ENSG00000136634 ENST00000367099 Transcript non_coding_transcript_exon_variant 1592 - - - - rs1164696192 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=IL10;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5962;gnomAD_AF=4.233e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=2.987e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1164696192 1:206768586 A ENSG00000136634 ENST00000423557 Transcript 3_prime_UTR_variant 646 - - - - rs1164696192 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=IL10;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5962;gnomAD_AF=4.233e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=2.987e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1164696192 1:206768586 A ENSG00000136634 ENST00000471071 Transcript 3_prime_UTR_variant 502 - - - - rs1164696192 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=IL10;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5962;gnomAD_AF=4.233e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=2.987e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1164696192 1:206768586 A ENSG00000136634 ENST00000640756 Transcript non_coding_transcript_exon_variant 397 - - - - rs1164696192 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=IL10;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5962;gnomAD_AF=4.233e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=2.987e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1164696192 1:206768586 A ENSG00000142224 ENST00000656872 Transcript upstream_gene_variant - - - - - rs1164696192 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2178;STRAND=1;SYMBOL=IL19;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5990;gnomAD_AF=4.233e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=2.987e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1164696192 1:206768586 A ENSG00000136634 ENST00000659065 Transcript 3_prime_UTR_variant 826 - - - - rs1164696192 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=IL10;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5962;gnomAD_AF=4.233e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=2.987e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1164696192 1:206768586 A ENSG00000136634 ENST00000659642 Transcript 3_prime_UTR_variant 1797 - - - - rs1164696192 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=IL10;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5962;gnomAD_AF=4.233e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=2.987e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1164696192 1:206768586 A ENSG00000142224 ENST00000659997 Transcript upstream_gene_variant - - - - - rs1164696192 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2187;STRAND=1;SYMBOL=IL19;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5990;gnomAD_AF=4.233e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=2.987e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1164696192 1:206768586 A ENSG00000142224 ENST00000662320 Transcript upstream_gene_variant - - - - - rs1164696192 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2178;STRAND=1;SYMBOL=IL19;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5990;gnomAD_AF=4.233e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=2.987e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1164696192 1:206768586 A ENSG00000136634 ENST00000664374 Transcript 3_prime_UTR_variant 696 - - - - rs1164696192 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=IL10;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5962;gnomAD_AF=4.233e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=2.987e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1454094514 1:206769791 A ENSG00000136634 ENST00000367099 Transcript non_coding_transcript_exon_variant 387 - - - - rs1454094514 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=IL10;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5962;gnomAD_AF=1.594e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=2.892e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=2.647e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1454094514 1:206769791 A ENSG00000136634 ENST00000423557 Transcript intron_variant - - - - - rs1454094514 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=IL10;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5962;gnomAD_AF=1.594e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=2.892e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=2.647e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1454094514 1:206769791 A ENSG00000136634 ENST00000471071 Transcript intron_variant - - - - - rs1454094514 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=IL10;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5962;gnomAD_AF=1.594e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=2.892e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=2.647e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1454094514 1:206769791 A ENSG00000136634 ENST00000640756 Transcript intron_variant,non_coding_transcript_variant - - - - - rs1454094514 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=IL10;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5962;gnomAD_AF=1.594e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=2.892e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=2.647e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1454094514 1:206769791 A ENSG00000142224 ENST00000656872 Transcript upstream_gene_variant - - - - - rs1454094514 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=973;STRAND=1;SYMBOL=IL19;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5990;gnomAD_AF=1.594e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=2.892e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=2.647e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1454094514 1:206769791 A ENSG00000136634 ENST00000659065 Transcript intron_variant - - - - - rs1454094514 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=IL10;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5962;gnomAD_AF=1.594e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=2.892e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=2.647e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1454094514 1:206769791 A ENSG00000136634 ENST00000659642 Transcript intron_variant - - - - - rs1454094514 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=IL10;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5962;gnomAD_AF=1.594e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=2.892e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=2.647e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1454094514 1:206769791 A ENSG00000142224 ENST00000659997 Transcript upstream_gene_variant - - - - - rs1454094514 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=982;STRAND=1;SYMBOL=IL19;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5990;gnomAD_AF=1.594e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=2.892e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=2.647e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1454094514 1:206769791 A ENSG00000142224 ENST00000662320 Transcript upstream_gene_variant - - - - - rs1454094514 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=973;STRAND=1;SYMBOL=IL19;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5990;gnomAD_AF=1.594e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=2.892e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=2.647e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1454094514 1:206769791 A ENSG00000136634 ENST00000664374 Transcript intron_variant - - - - - rs1454094514 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=IL10;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5962;gnomAD_AF=1.594e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=2.892e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=2.647e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs374619208 1:206770911 T ENSG00000136634 ENST00000367099 Transcript non_coding_transcript_exon_variant 279 - - - - rs374619208,COSV65594850 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=IL10;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5962;gnomAD_AF=3.978e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0.000163;gnomAD_SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs374619208 1:206770911 T ENSG00000136634 ENST00000423557 Transcript missense_variant 433 374 125 R/H cGc/cAc rs374619208,COSV65594850 IND=P1;ZYG=HET;IMPACT=MODERATE;STRAND=-1;SYMBOL=IL10;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5962;SIFT=deleterious(0.01);PolyPhen=benign(0.414);gnomAD_AF=3.978e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0.000163;gnomAD_SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs374619208 1:206770911 T ENSG00000136634 ENST00000471071 Transcript missense_variant 289 119 40 R/H cGc/cAc rs374619208,COSV65594850 IND=P1;ZYG=HET;IMPACT=MODERATE;STRAND=-1;SYMBOL=IL10;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5962;SIFT=deleterious(0.02);PolyPhen=benign(0.414);gnomAD_AF=3.978e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0.000163;gnomAD_SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs374619208 1:206770911 T ENSG00000136634 ENST00000640756 Transcript upstream_gene_variant - - - - - rs374619208,COSV65594850 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=325;STRAND=-1;SYMBOL=IL10;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5962;gnomAD_AF=3.978e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0.000163;gnomAD_SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs374619208 1:206770911 T ENSG00000142224 ENST00000656872 Transcript intron_variant - - - - - rs374619208,COSV65594850 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=IL19;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5990;gnomAD_AF=3.978e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0.000163;gnomAD_SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs374619208 1:206770911 T ENSG00000136634 ENST00000659065 Transcript missense_variant 613 257 86 R/H cGc/cAc rs374619208,COSV65594850 IND=P1;ZYG=HET;IMPACT=MODERATE;STRAND=-1;SYMBOL=IL10;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5962;SIFT=deleterious(0.02);PolyPhen=benign(0.414);gnomAD_AF=3.978e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0.000163;gnomAD_SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs374619208 1:206770911 T ENSG00000136634 ENST00000659642 Transcript missense_variant 1584 257 86 R/H cGc/cAc rs374619208,COSV65594850 IND=P1;ZYG=HET;IMPACT=MODERATE;STRAND=-1;SYMBOL=IL10;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5962;SIFT=deleterious(0.02);PolyPhen=benign(0.414);gnomAD_AF=3.978e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0.000163;gnomAD_SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs374619208 1:206770911 T ENSG00000142224 ENST00000659997 Transcript 5_prime_UTR_variant 139 - - - - rs374619208,COSV65594850 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=IL19;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5990;gnomAD_AF=3.978e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0.000163;gnomAD_SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs374619208 1:206770911 T ENSG00000142224 ENST00000662320 Transcript intron_variant,non_coding_transcript_variant - - - - - rs374619208,COSV65594850 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=IL19;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5990;gnomAD_AF=3.978e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0.000163;gnomAD_SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs374619208 1:206770911 T ENSG00000136634 ENST00000664374 Transcript missense_variant 483 257 86 R/H cGc/cAc rs374619208,COSV65594850 IND=P1;ZYG=HET;IMPACT=MODERATE;STRAND=-1;SYMBOL=IL10;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5962;SIFT=deleterious(0.02);PolyPhen=benign(0.414);gnomAD_AF=3.978e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0.000163;gnomAD_SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs750441744 1:206770958 T ENSG00000136634 ENST00000367099 Transcript non_coding_transcript_exon_variant 232 - - - - rs750441744,COSV65594443 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=IL10;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5962;gnomAD_AF=3.977e-06;gnomAD_AFR_AF=6.152e-05;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs750441744 1:206770958 T ENSG00000136634 ENST00000423557 Transcript synonymous_variant 386 327 109 V gtG/gtA rs750441744,COSV65594443 IND=P1;ZYG=HOM;IMPACT=LOW;STRAND=-1;SYMBOL=IL10;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5962;gnomAD_AF=3.977e-06;gnomAD_AFR_AF=6.152e-05;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs750441744 1:206770958 T ENSG00000136634 ENST00000471071 Transcript synonymous_variant 242 72 24 V gtG/gtA rs750441744,COSV65594443 IND=P1;ZYG=HOM;IMPACT=LOW;STRAND=-1;SYMBOL=IL10;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5962;gnomAD_AF=3.977e-06;gnomAD_AFR_AF=6.152e-05;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs750441744 1:206770958 T ENSG00000136634 ENST00000640756 Transcript upstream_gene_variant - - - - - rs750441744,COSV65594443 IND=P1;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=372;STRAND=-1;SYMBOL=IL10;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5962;gnomAD_AF=3.977e-06;gnomAD_AFR_AF=6.152e-05;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs750441744 1:206770958 T ENSG00000142224 ENST00000656872 Transcript intron_variant - - - - - rs750441744,COSV65594443 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=IL19;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5990;gnomAD_AF=3.977e-06;gnomAD_AFR_AF=6.152e-05;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs750441744 1:206770958 T ENSG00000136634 ENST00000659065 Transcript synonymous_variant 566 210 70 V gtG/gtA rs750441744,COSV65594443 IND=P1;ZYG=HOM;IMPACT=LOW;STRAND=-1;SYMBOL=IL10;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5962;gnomAD_AF=3.977e-06;gnomAD_AFR_AF=6.152e-05;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs750441744 1:206770958 T ENSG00000136634 ENST00000659642 Transcript synonymous_variant 1537 210 70 V gtG/gtA rs750441744,COSV65594443 IND=P1;ZYG=HOM;IMPACT=LOW;STRAND=-1;SYMBOL=IL10;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5962;gnomAD_AF=3.977e-06;gnomAD_AFR_AF=6.152e-05;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs750441744 1:206770958 T ENSG00000142224 ENST00000659997 Transcript 5_prime_UTR_variant 186 - - - - rs750441744,COSV65594443 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=IL19;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5990;gnomAD_AF=3.977e-06;gnomAD_AFR_AF=6.152e-05;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs750441744 1:206770958 T ENSG00000142224 ENST00000662320 Transcript intron_variant,non_coding_transcript_variant - - - - - rs750441744,COSV65594443 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=IL19;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5990;gnomAD_AF=3.977e-06;gnomAD_AFR_AF=6.152e-05;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs750441744 1:206770958 T ENSG00000136634 ENST00000664374 Transcript synonymous_variant 436 210 70 V gtG/gtA rs750441744,COSV65594443 IND=P1;ZYG=HOM;IMPACT=LOW;STRAND=-1;SYMBOL=IL10;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5962;gnomAD_AF=3.977e-06;gnomAD_AFR_AF=6.152e-05;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs1279597789 1:206771083 A ENSG00000136634 ENST00000367099 Transcript non_coding_transcript_exon_variant 107 - - - - rs1279597789 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=IL10;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5962;gnomAD_AF=7.963e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=9.929e-05;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=8.807e-06;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1279597789 1:206771083 A ENSG00000136634 ENST00000423557 Transcript intron_variant - - - - - rs1279597789 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=IL10;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5962;gnomAD_AF=7.963e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=9.929e-05;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=8.807e-06;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1279597789 1:206771083 A ENSG00000136634 ENST00000471071 Transcript 5_prime_UTR_variant 117 - - - - rs1279597789 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=IL10;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5962;gnomAD_AF=7.963e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=9.929e-05;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=8.807e-06;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1279597789 1:206771083 A ENSG00000136634 ENST00000640756 Transcript upstream_gene_variant - - - - - rs1279597789 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=497;STRAND=-1;SYMBOL=IL10;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5962;gnomAD_AF=7.963e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=9.929e-05;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=8.807e-06;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1279597789 1:206771083 A ENSG00000142224 ENST00000656872 Transcript intron_variant - - - - - rs1279597789 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=IL19;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5990;gnomAD_AF=7.963e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=9.929e-05;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=8.807e-06;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1279597789 1:206771083 A ENSG00000136634 ENST00000659065 Transcript intron_variant - - - - - rs1279597789 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=IL10;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5962;gnomAD_AF=7.963e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=9.929e-05;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=8.807e-06;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1279597789 1:206771083 A ENSG00000136634 ENST00000659642 Transcript intron_variant - - - - - rs1279597789 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=IL10;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5962;gnomAD_AF=7.963e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=9.929e-05;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=8.807e-06;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1279597789 1:206771083 A ENSG00000142224 ENST00000659997 Transcript splice_donor_5th_base_variant,intron_variant - - - - - rs1279597789 IND=P1;ZYG=HET;IMPACT=LOW;STRAND=1;SYMBOL=IL19;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5990;gnomAD_AF=7.963e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=9.929e-05;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=8.807e-06;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1279597789 1:206771083 A ENSG00000142224 ENST00000662320 Transcript intron_variant,non_coding_transcript_variant - - - - - rs1279597789 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=IL19;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5990;gnomAD_AF=7.963e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=9.929e-05;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=8.807e-06;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1279597789 1:206771083 A ENSG00000136634 ENST00000664374 Transcript intron_variant - - - - - rs1279597789 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=IL10;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5962;gnomAD_AF=7.963e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=9.929e-05;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=8.807e-06;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs570050304 1:206772303 T ENSG00000136634 ENST00000367099 Transcript upstream_gene_variant - - - - - rs570050304,COSV65594929 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1114;STRAND=-1;SYMBOL=IL10;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5962;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=3.979e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=2.891e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs570050304 1:206772303 T ENSG00000136634 ENST00000423557 Transcript synonymous_variant 192 133 45 R Cga/Aga rs570050304,COSV65594929 IND=P1;ZYG=HET;IMPACT=LOW;STRAND=-1;SYMBOL=IL10;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5962;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=3.979e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=2.891e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs570050304 1:206772303 T ENSG00000136634 ENST00000471071 Transcript upstream_gene_variant - - - - - rs570050304,COSV65594929 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1104;STRAND=-1;SYMBOL=IL10;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5962;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=3.979e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=2.891e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs570050304 1:206772303 T ENSG00000136634 ENST00000640756 Transcript upstream_gene_variant - - - - - rs570050304,COSV65594929 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1717;STRAND=-1;SYMBOL=IL10;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5962;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=3.979e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=2.891e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs570050304 1:206772303 T ENSG00000142224 ENST00000656872 Transcript intron_variant - - - - - rs570050304,COSV65594929 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=IL19;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5990;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=3.979e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=2.891e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs570050304 1:206772303 T ENSG00000136634 ENST00000659065 Transcript synonymous_variant 372 16 6 R Cga/Aga rs570050304,COSV65594929 IND=P1;ZYG=HET;IMPACT=LOW;STRAND=-1;SYMBOL=IL10;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5962;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=3.979e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=2.891e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs570050304 1:206772303 T ENSG00000136634 ENST00000659642 Transcript synonymous_variant 1343 16 6 R Cga/Aga rs570050304,COSV65594929 IND=P1;ZYG=HET;IMPACT=LOW;STRAND=-1;SYMBOL=IL10;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5962;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=3.979e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=2.891e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs570050304 1:206772303 T ENSG00000142224 ENST00000659997 Transcript intron_variant - - - - - rs570050304,COSV65594929 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=IL19;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5990;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=3.979e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=2.891e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs570050304 1:206772303 T ENSG00000142224 ENST00000662320 Transcript intron_variant,non_coding_transcript_variant - - - - - rs570050304,COSV65594929 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=IL19;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5990;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=3.979e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=2.891e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs570050304 1:206772303 T ENSG00000136634 ENST00000664374 Transcript synonymous_variant 242 16 6 R Cga/Aga rs570050304,COSV65594929 IND=P1;ZYG=HET;IMPACT=LOW;STRAND=-1;SYMBOL=IL10;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5962;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=3.979e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=2.891e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs534834682 10:5393915 A ENSG00000178462 ENST00000380419 Transcript missense_variant 979 943 315 R/W Cgg/Tgg rs534834682,COSV100990545 IND=P1;ZYG=HET;IMPACT=MODERATE;STRAND=-1;SYMBOL=TUBAL3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23534;SIFT=deleterious_low_confidence(0.01);PolyPhen=possibly_damaging(0.875);AF=0.0004;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.002;gnomAD_AF=0.0002386;gnomAD_AFR_AF=6.152e-05;gnomAD_AMR_AF=5.782e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=2.637e-05;gnomAD_OTH_AF=0.000163;gnomAD_SAS_AF=0.001731;SOMATIC=0,1;PHENO=0,1 rs534834682 10:5393915 A ENSG00000178462 ENST00000479328 Transcript missense_variant 859 823 275 R/W Cgg/Tgg rs534834682,COSV100990545 IND=P1;ZYG=HET;IMPACT=MODERATE;STRAND=-1;SYMBOL=TUBAL3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23534;SIFT=deleterious_low_confidence(0.02);PolyPhen=possibly_damaging(0.868);AF=0.0004;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.002;gnomAD_AF=0.0002386;gnomAD_AFR_AF=6.152e-05;gnomAD_AMR_AF=5.782e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=2.637e-05;gnomAD_OTH_AF=0.000163;gnomAD_SAS_AF=0.001731;SOMATIC=0,1;PHENO=0,1 rs537218157 10:5394858 C ENSG00000178462 ENST00000380419 Transcript intron_variant - - - - - rs537218157 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=TUBAL3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23534;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001 rs537218157 10:5394858 C ENSG00000178462 ENST00000479328 Transcript intron_variant - - - - - rs537218157 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=TUBAL3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23534;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001 rs145253522 10:5395026 G ENSG00000178462 ENST00000380419 Transcript intron_variant - - - - - rs145253522 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=TUBAL3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23534;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs145253522 10:5395026 G ENSG00000178462 ENST00000479328 Transcript intron_variant - - - - - rs145253522 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=TUBAL3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23534;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs146552059 10:5395462 T ENSG00000178462 ENST00000380419 Transcript synonymous_variant 297 261 87 T acG/acA rs146552059,COSV104702841 IND=P3;ZYG=HET;IMPACT=LOW;STRAND=-1;SYMBOL=TUBAL3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23534;AF=0.0004;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.002;SAS_AF=0;gnomAD_AF=0.0005943;gnomAD_AFR_AF=7.206e-05;gnomAD_AMR_AF=0.0007403;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0.0002954;gnomAD_NFE_AF=0.0009269;gnomAD_OTH_AF=0.0008275;gnomAD_SAS_AF=0.0001277;SOMATIC=0,1;PHENO=0,1 rs146552059 10:5395462 T ENSG00000178462 ENST00000479328 Transcript synonymous_variant 177 141 47 T acG/acA rs146552059,COSV104702841 IND=P3;ZYG=HET;IMPACT=LOW;STRAND=-1;SYMBOL=TUBAL3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23534;AF=0.0004;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.002;SAS_AF=0;gnomAD_AF=0.0005943;gnomAD_AFR_AF=7.206e-05;gnomAD_AMR_AF=0.0007403;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0.0002954;gnomAD_NFE_AF=0.0009269;gnomAD_OTH_AF=0.0008275;gnomAD_SAS_AF=0.0001277;SOMATIC=0,1;PHENO=0,1 rs550864672 10:5396938 A ENSG00000178462 ENST00000380419 Transcript intron_variant - - - - - rs550864672 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=TUBAL3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23534;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs550864672 10:5396938 A ENSG00000178462 ENST00000479328 Transcript intron_variant - - - - - rs550864672 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=TUBAL3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23534;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs78858303 10:5398660 C ENSG00000178462 ENST00000380419 Transcript intron_variant - - - - - rs78858303 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=TUBAL3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23534;AF=0.0445;AFR_AF=0.0711;AMR_AF=0.0245;EAS_AF=0.003;EUR_AF=0.0328;SAS_AF=0.0777 rs78858303 10:5398660 C ENSG00000178462 ENST00000479328 Transcript intron_variant - - - - - rs78858303 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=TUBAL3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23534;AF=0.0445;AFR_AF=0.0711;AMR_AF=0.0245;EAS_AF=0.003;EUR_AF=0.0328;SAS_AF=0.0777 rs569857328 10:5400780 T ENSG00000178462 ENST00000380419 Transcript intron_variant - - - - - rs569857328 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=TUBAL3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23534;AF=0.0006;AFR_AF=0.0023;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs569857328 10:5400780 T ENSG00000178462 ENST00000479328 Transcript intron_variant - - - - - rs569857328 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=TUBAL3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23534;AF=0.0006;AFR_AF=0.0023;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs7474730 10:5401778 A ENSG00000178462 ENST00000380419 Transcript intron_variant - - - - - rs7474730 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=TUBAL3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23534;AF=0.7881;AFR_AF=0.829;AMR_AF=0.8069;EAS_AF=0.8274;EUR_AF=0.7187;SAS_AF=0.7505 rs7474730 10:5401778 A ENSG00000178462 ENST00000479328 Transcript intron_variant - - - - - rs7474730 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=TUBAL3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23534;AF=0.7881;AFR_AF=0.829;AMR_AF=0.8069;EAS_AF=0.8274;EUR_AF=0.7187;SAS_AF=0.7505 rs561908762 10:5403081 G ENSG00000178462 ENST00000380419 Transcript intron_variant - - - - - rs561908762 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=TUBAL3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23534;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs561908762 10:5403081 G ENSG00000178462 ENST00000479328 Transcript intron_variant - - - - - rs561908762 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=TUBAL3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23534;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs139515896 10:5403945 C ENSG00000178462 ENST00000380419 Transcript intron_variant - - - - - rs139515896 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=TUBAL3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23534;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs139515896 10:5403945 C ENSG00000178462 ENST00000479328 Transcript intron_variant - - - - - rs139515896 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=TUBAL3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23534;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs74373056 10:5404203 T ENSG00000178462 ENST00000380419 Transcript intron_variant - - - - - rs74373056 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=TUBAL3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23534;AF=0.0240;AFR_AF=0.0885;AMR_AF=0.0043;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs74373056 10:5404203 T ENSG00000178462 ENST00000479328 Transcript intron_variant - - - - - rs74373056 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=TUBAL3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23534;AF=0.0240;AFR_AF=0.0885;AMR_AF=0.0043;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs10904491 10:5404669 A ENSG00000178462 ENST00000380419 Transcript intron_variant - - - - - rs10904491 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=TUBAL3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23534;AF=0.6358;AFR_AF=0.6331;AMR_AF=0.768;EAS_AF=0.6478;EUR_AF=0.6551;SAS_AF=0.5133 rs10904491 10:5404669 A ENSG00000178462 ENST00000479328 Transcript intron_variant - - - - - rs10904491 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=TUBAL3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23534;AF=0.6358;AFR_AF=0.6331;AMR_AF=0.768;EAS_AF=0.6478;EUR_AF=0.6551;SAS_AF=0.5133 rs554769738 10:5404690 T ENSG00000178462 ENST00000380419 Transcript intron_variant - - - - - rs554769738 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=TUBAL3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23534;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs554769738 10:5404690 T ENSG00000178462 ENST00000479328 Transcript intron_variant - - - - - rs554769738 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=TUBAL3;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23534;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs576250239 10:24982211 C ENSG00000151023 ENST00000331161 Transcript 3_prime_UTR_variant 3152 - - - - rs576250239 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=ENKUR;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28388;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs576250239 10:24982211 C ENSG00000151023 ENST00000376363 Transcript downstream_gene_variant - - - - - rs576250239 IND=P1;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=2191;STRAND=-1;SYMBOL=ENKUR;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28388;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs576250239 10:24982211 C ENSG00000151023 ENST00000483339 Transcript downstream_gene_variant - - - - - rs576250239 IND=P1;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=2625;STRAND=-1;FLAGS=cds_end_NF;SYMBOL=ENKUR;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28388;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs576250239 10:24982211 C ENSG00000151023 ENST00000496261 Transcript 3_prime_UTR_variant,NMD_transcript_variant 1715 - - - - rs576250239 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=ENKUR;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28388;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs576250239 10:24982211 C ENSG00000151023 ENST00000615958 Transcript 3_prime_UTR_variant 3063 - - - - rs576250239 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=ENKUR;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28388;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs576250239 10:24982211 C ENSG00000285859 ENST00000648191 Transcript intron_variant,non_coding_transcript_variant - - - - - rs576250239 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs538220592 10:24985323 T ENSG00000151023 ENST00000331161 Transcript intron_variant - - - - - rs538220592 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=ENKUR;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28388;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs538220592 10:24985323 T ENSG00000151023 ENST00000376363 Transcript intron_variant - - - - - rs538220592 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=ENKUR;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28388;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs538220592 10:24985323 T ENSG00000151023 ENST00000483339 Transcript intron_variant - - - - - rs538220592 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;FLAGS=cds_end_NF;SYMBOL=ENKUR;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28388;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs538220592 10:24985323 T ENSG00000151023 ENST00000496261 Transcript intron_variant,NMD_transcript_variant - - - - - rs538220592 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=ENKUR;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28388;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs538220592 10:24985323 T ENSG00000151023 ENST00000615958 Transcript intron_variant - - - - - rs538220592 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=ENKUR;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28388;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs538220592 10:24985323 T ENSG00000285859 ENST00000648191 Transcript intron_variant,non_coding_transcript_variant - - - - - rs538220592 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs549666616 10:25005070 C ENSG00000151023 ENST00000331161 Transcript intron_variant - - - - - rs549666616 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=ENKUR;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28388;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs549666616 10:25005070 C ENSG00000151023 ENST00000376363 Transcript intron_variant - - - - - rs549666616 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=ENKUR;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28388;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs549666616 10:25005070 C ENSG00000151023 ENST00000483339 Transcript intron_variant - - - - - rs549666616 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;FLAGS=cds_end_NF;SYMBOL=ENKUR;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28388;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs549666616 10:25005070 C ENSG00000151023 ENST00000496261 Transcript intron_variant,NMD_transcript_variant - - - - - rs549666616 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=ENKUR;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28388;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs549666616 10:25005070 C ENSG00000151023 ENST00000615958 Transcript intron_variant - - - - - rs549666616 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=ENKUR;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28388;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs549666616 10:25005070 C ENSG00000285859 ENST00000648191 Transcript intron_variant,non_coding_transcript_variant - - - - - rs549666616 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs115282368 10:25013118 T ENSG00000151023 ENST00000331161 Transcript intron_variant - - - - - rs115282368 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=ENKUR;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28388;AF=0.0168;AFR_AF=0.062;AMR_AF=0.0029;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs115282368 10:25013118 T ENSG00000185875 ENST00000376356 Transcript upstream_gene_variant - - - - - rs115282368 IND=P1;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=3494;STRAND=1;SYMBOL=THNSL1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26160;AF=0.0168;AFR_AF=0.062;AMR_AF=0.0029;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs115282368 10:25013118 T ENSG00000151023 ENST00000376363 Transcript intron_variant - - - - - rs115282368 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=ENKUR;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28388;AF=0.0168;AFR_AF=0.062;AMR_AF=0.0029;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs115282368 10:25013118 T ENSG00000151023 ENST00000483339 Transcript intron_variant - - - - - rs115282368 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;FLAGS=cds_end_NF;SYMBOL=ENKUR;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28388;AF=0.0168;AFR_AF=0.062;AMR_AF=0.0029;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs115282368 10:25013118 T ENSG00000151023 ENST00000496261 Transcript intron_variant,NMD_transcript_variant - - - - - rs115282368 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=ENKUR;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28388;AF=0.0168;AFR_AF=0.062;AMR_AF=0.0029;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs115282368 10:25013118 T ENSG00000185875 ENST00000524413 Transcript upstream_gene_variant - - - - - rs115282368 IND=P1;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=3540;STRAND=1;SYMBOL=THNSL1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26160;AF=0.0168;AFR_AF=0.062;AMR_AF=0.0029;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs115282368 10:25013118 T ENSG00000151023 ENST00000615958 Transcript intron_variant - - - - - rs115282368 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=ENKUR;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28388;AF=0.0168;AFR_AF=0.062;AMR_AF=0.0029;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs115282368 10:25013118 T ENSG00000285859 ENST00000648191 Transcript intron_variant,non_coding_transcript_variant - - - - - rs115282368 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;AF=0.0168;AFR_AF=0.062;AMR_AF=0.0029;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs184528875 10:25017570 G ENSG00000151023 ENST00000331161 Transcript upstream_gene_variant - - - - - rs184528875 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1412;STRAND=-1;SYMBOL=ENKUR;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28388;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs184528875 10:25017570 G ENSG00000185875 ENST00000376356 Transcript intron_variant - - - - - rs184528875 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=THNSL1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26160;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs184528875 10:25017570 G ENSG00000151023 ENST00000376363 Transcript upstream_gene_variant - - - - - rs184528875 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1414;STRAND=-1;SYMBOL=ENKUR;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28388;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs184528875 10:25017570 G ENSG00000151023 ENST00000483339 Transcript upstream_gene_variant - - - - - rs184528875 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1610;STRAND=-1;FLAGS=cds_end_NF;SYMBOL=ENKUR;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28388;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs184528875 10:25017570 G ENSG00000151023 ENST00000496261 Transcript upstream_gene_variant - - - - - rs184528875 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1410;STRAND=-1;SYMBOL=ENKUR;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28388;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs184528875 10:25017570 G ENSG00000185875 ENST00000524413 Transcript intron_variant - - - - - rs184528875 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=THNSL1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26160;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs184528875 10:25017570 G ENSG00000151023 ENST00000615958 Transcript intron_variant - - - - - rs184528875 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=ENKUR;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28388;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs184528875 10:25017570 G ENSG00000285859 ENST00000648191 Transcript intron_variant,non_coding_transcript_variant - - - - - rs184528875 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs558881065 10:25017803 G ENSG00000151023 ENST00000331161 Transcript upstream_gene_variant - - - - - rs558881065 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=1645;STRAND=-1;SYMBOL=ENKUR;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28388;AF=0.0004;AFR_AF=0;AMR_AF=0;EAS_AF=0.002;EUR_AF=0;SAS_AF=0 rs558881065 10:25017803 G ENSG00000185875 ENST00000376356 Transcript intron_variant - - - - - rs558881065 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=THNSL1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26160;AF=0.0004;AFR_AF=0;AMR_AF=0;EAS_AF=0.002;EUR_AF=0;SAS_AF=0 rs558881065 10:25017803 G ENSG00000151023 ENST00000376363 Transcript upstream_gene_variant - - - - - rs558881065 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=1647;STRAND=-1;SYMBOL=ENKUR;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28388;AF=0.0004;AFR_AF=0;AMR_AF=0;EAS_AF=0.002;EUR_AF=0;SAS_AF=0 rs558881065 10:25017803 G ENSG00000151023 ENST00000483339 Transcript upstream_gene_variant - - - - - rs558881065 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=1843;STRAND=-1;FLAGS=cds_end_NF;SYMBOL=ENKUR;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28388;AF=0.0004;AFR_AF=0;AMR_AF=0;EAS_AF=0.002;EUR_AF=0;SAS_AF=0 rs558881065 10:25017803 G ENSG00000151023 ENST00000496261 Transcript upstream_gene_variant - - - - - rs558881065 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=1643;STRAND=-1;SYMBOL=ENKUR;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28388;AF=0.0004;AFR_AF=0;AMR_AF=0;EAS_AF=0.002;EUR_AF=0;SAS_AF=0 rs558881065 10:25017803 G ENSG00000185875 ENST00000524413 Transcript intron_variant - - - - - rs558881065 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=THNSL1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26160;AF=0.0004;AFR_AF=0;AMR_AF=0;EAS_AF=0.002;EUR_AF=0;SAS_AF=0 rs558881065 10:25017803 G ENSG00000151023 ENST00000615958 Transcript intron_variant - - - - - rs558881065 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=ENKUR;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28388;AF=0.0004;AFR_AF=0;AMR_AF=0;EAS_AF=0.002;EUR_AF=0;SAS_AF=0 rs558881065 10:25017803 G ENSG00000285859 ENST00000648191 Transcript intron_variant,non_coding_transcript_variant - - - - - rs558881065 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;AF=0.0004;AFR_AF=0;AMR_AF=0;EAS_AF=0.002;EUR_AF=0;SAS_AF=0 rs574539893 10:25022848 G ENSG00000185875 ENST00000376356 Transcript intron_variant - - - - - rs574539893 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=THNSL1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26160;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001 rs574539893 10:25022848 G ENSG00000185875 ENST00000524413 Transcript intron_variant - - - - - rs574539893 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=THNSL1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26160;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001 rs574539893 10:25022848 G ENSG00000151023 ENST00000615958 Transcript intron_variant - - - - - rs574539893 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=ENKUR;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28388;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001 rs574539893 10:25022848 G ENSG00000285859 ENST00000648191 Transcript intron_variant,non_coding_transcript_variant - - - - - rs574539893 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001 rs200544875 10:25023932 A ENSG00000185875 ENST00000376356 Transcript missense_variant 1005 709 237 V/I Gtt/Att rs200544875,COSV64478901 IND=P3;ZYG=HET;IMPACT=MODERATE;STRAND=1;SYMBOL=THNSL1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26160;SIFT=tolerated(0.23);PolyPhen=benign(0);AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0;gnomAD_AF=0.0003905;gnomAD_AFR_AF=6.228e-05;gnomAD_AMR_AF=2.893e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=5.437e-05;gnomAD_FIN_AF=0.0001848;gnomAD_NFE_AF=0.0007843;gnomAD_OTH_AF=0.0001636;gnomAD_SAS_AF=3.267e-05;SOMATIC=0,1;PHENO=0,1 rs200544875 10:25023932 A ENSG00000185875 ENST00000524413 Transcript missense_variant 1056 709 237 V/I Gtt/Att rs200544875,COSV64478901 IND=P3;ZYG=HET;IMPACT=MODERATE;STRAND=1;SYMBOL=THNSL1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26160;SIFT=tolerated(0.23);PolyPhen=benign(0);AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0;gnomAD_AF=0.0003905;gnomAD_AFR_AF=6.228e-05;gnomAD_AMR_AF=2.893e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=5.437e-05;gnomAD_FIN_AF=0.0001848;gnomAD_NFE_AF=0.0007843;gnomAD_OTH_AF=0.0001636;gnomAD_SAS_AF=3.267e-05;SOMATIC=0,1;PHENO=0,1 rs200544875 10:25023932 A ENSG00000151023 ENST00000615958 Transcript intron_variant - - - - - rs200544875,COSV64478901 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=ENKUR;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28388;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0;gnomAD_AF=0.0003905;gnomAD_AFR_AF=6.228e-05;gnomAD_AMR_AF=2.893e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=5.437e-05;gnomAD_FIN_AF=0.0001848;gnomAD_NFE_AF=0.0007843;gnomAD_OTH_AF=0.0001636;gnomAD_SAS_AF=3.267e-05;SOMATIC=0,1;PHENO=0,1 rs200544875 10:25023932 A ENSG00000285859 ENST00000648191 Transcript intron_variant,non_coding_transcript_variant - - - - - rs200544875,COSV64478901 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0;gnomAD_AF=0.0003905;gnomAD_AFR_AF=6.228e-05;gnomAD_AMR_AF=2.893e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=5.437e-05;gnomAD_FIN_AF=0.0001848;gnomAD_NFE_AF=0.0007843;gnomAD_OTH_AF=0.0001636;gnomAD_SAS_AF=3.267e-05;SOMATIC=0,1;PHENO=0,1 rs181285836 10:25024726 G ENSG00000185875 ENST00000376356 Transcript synonymous_variant 1799 1503 501 P ccA/ccG rs181285836 IND=P3;ZYG=HOM;IMPACT=LOW;STRAND=1;SYMBOL=THNSL1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26160;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=0.0001353;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0.0009837;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs181285836 10:25024726 G ENSG00000185875 ENST00000524413 Transcript synonymous_variant 1850 1503 501 P ccA/ccG rs181285836 IND=P3;ZYG=HOM;IMPACT=LOW;STRAND=1;SYMBOL=THNSL1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26160;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=0.0001353;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0.0009837;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs181285836 10:25024726 G ENSG00000151023 ENST00000615958 Transcript intron_variant - - - - - rs181285836 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=ENKUR;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28388;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=0.0001353;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0.0009837;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs181285836 10:25024726 G ENSG00000285859 ENST00000648191 Transcript intron_variant,non_coding_transcript_variant - - - - - rs181285836 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=0.0001353;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0.0009837;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs78131600 10:25025199 T ENSG00000185875 ENST00000376356 Transcript missense_variant 2272 1976 659 P/L cCt/cTt rs78131600 IND=P1;ZYG=HOM;IMPACT=MODERATE;STRAND=1;SYMBOL=THNSL1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26160;SIFT=deleterious(0);PolyPhen=probably_damaging(1);AF=0.0024;AFR_AF=0;AMR_AF=0;EAS_AF=0.0119;EUR_AF=0;SAS_AF=0;gnomAD_AF=0.001643;gnomAD_AFR_AF=0.0003076;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0.02088;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0.0008154;gnomAD_SAS_AF=0.0006206 rs78131600 10:25025199 T ENSG00000185875 ENST00000524413 Transcript missense_variant 2323 1976 659 P/L cCt/cTt rs78131600 IND=P1;ZYG=HOM;IMPACT=MODERATE;STRAND=1;SYMBOL=THNSL1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26160;SIFT=deleterious(0);PolyPhen=probably_damaging(1);AF=0.0024;AFR_AF=0;AMR_AF=0;EAS_AF=0.0119;EUR_AF=0;SAS_AF=0;gnomAD_AF=0.001643;gnomAD_AFR_AF=0.0003076;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0.02088;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0.0008154;gnomAD_SAS_AF=0.0006206 rs78131600 10:25025199 T ENSG00000151023 ENST00000615958 Transcript intron_variant - - - - - rs78131600 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=ENKUR;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28388;AF=0.0024;AFR_AF=0;AMR_AF=0;EAS_AF=0.0119;EUR_AF=0;SAS_AF=0;gnomAD_AF=0.001643;gnomAD_AFR_AF=0.0003076;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0.02088;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0.0008154;gnomAD_SAS_AF=0.0006206 rs78131600 10:25025199 T ENSG00000285859 ENST00000648191 Transcript intron_variant,non_coding_transcript_variant - - - - - rs78131600 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;AF=0.0024;AFR_AF=0;AMR_AF=0;EAS_AF=0.0119;EUR_AF=0;SAS_AF=0;gnomAD_AF=0.001643;gnomAD_AFR_AF=0.0003076;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0.02088;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0.0008154;gnomAD_SAS_AF=0.0006206 rs558025612 10:25031703 C ENSG00000151023 ENST00000615958 Transcript intron_variant - - - - - rs558025612 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=ENKUR;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28388;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs558025612 10:25031703 C ENSG00000285859 ENST00000648191 Transcript intron_variant,non_coding_transcript_variant - - - - - rs558025612 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs548379420 10:25043888 T ENSG00000151023 ENST00000615958 Transcript intron_variant - - - - - rs548379420 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=ENKUR;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28388;AF=0.0020;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.0102 rs548379420 10:25043888 T ENSG00000285859 ENST00000648191 Transcript intron_variant,non_coding_transcript_variant - - - - - rs548379420 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;AF=0.0020;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.0102 rs116543392 10:25051066 A ENSG00000151023 ENST00000615958 Transcript intron_variant - - - - - rs116543392 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=ENKUR;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28388;AF=0.0132;AFR_AF=0.0492;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs116543392 10:25051066 A ENSG00000285859 ENST00000648191 Transcript intron_variant,non_coding_transcript_variant - - - - - rs116543392 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;AF=0.0132;AFR_AF=0.0492;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs145720360 10:25059961 T ENSG00000151023 ENST00000615958 Transcript intron_variant - - - - - rs145720360 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=ENKUR;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28388;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs145720360 10:25059961 T ENSG00000285859 ENST00000648191 Transcript intron_variant,non_coding_transcript_variant - - - - - rs145720360 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs778941278 10:68231203-68231214 - ENSG00000179774 ENST00000373673 Transcript 3_prime_UTR_variant 900-911 - - - - rs778941278 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=ATOH7;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13907;gnomAD_AF=1.383e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=2.943e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs778941278 10:68231203-68231214 - ENSG00000233590 ENST00000429634 Transcript downstream_gene_variant - - - - - rs778941278 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=2039;STRAND=-1;SYMBOL=LINC02640;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:54123;gnomAD_AF=1.383e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=2.943e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs778941278 10:68231203-68231214 - ENSG00000233590 ENST00000444086 Transcript downstream_gene_variant - - - - - rs778941278 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=2037;STRAND=-1;SYMBOL=LINC02640;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:54123;gnomAD_AF=1.383e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=2.943e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs770514524 10:68231245 C ENSG00000179774 ENST00000373673 Transcript missense_variant 869 433 145 P/A Ccc/Gcc rs770514524 IND=P2;ZYG=HET;IMPACT=MODERATE;STRAND=-1;SYMBOL=ATOH7;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13907;SIFT=deleterious_low_confidence(0.02);PolyPhen=possibly_damaging(0.76);gnomAD_AF=4.664e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=3.311e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs770514524 10:68231245 C ENSG00000233590 ENST00000429634 Transcript downstream_gene_variant - - - - - rs770514524 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2008;STRAND=-1;SYMBOL=LINC02640;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:54123;gnomAD_AF=4.664e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=3.311e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs770514524 10:68231245 C ENSG00000233590 ENST00000444086 Transcript downstream_gene_variant - - - - - rs770514524 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2006;STRAND=-1;SYMBOL=LINC02640;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:54123;gnomAD_AF=4.664e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=3.311e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs755930408 10:68231309 A ENSG00000179774 ENST00000373673 Transcript synonymous_variant 805 369 123 P ccG/ccT rs755930408 IND=P2;ZYG=HET;IMPACT=LOW;STRAND=-1;SYMBOL=ATOH7;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13907;gnomAD_AF=8.13e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=1.805e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs755930408 10:68231309 A ENSG00000233590 ENST00000429634 Transcript downstream_gene_variant - - - - - rs755930408 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1944;STRAND=-1;SYMBOL=LINC02640;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:54123;gnomAD_AF=8.13e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=1.805e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs755930408 10:68231309 A ENSG00000233590 ENST00000444086 Transcript downstream_gene_variant - - - - - rs755930408 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1942;STRAND=-1;SYMBOL=LINC02640;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:54123;gnomAD_AF=8.13e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=1.805e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1029820465 10:68231432 T ENSG00000179774 ENST00000373673 Transcript synonymous_variant 682 246 82 L ctG/ctA rs1029820465 IND=P2;ZYG=HET;IMPACT=LOW;STRAND=-1;SYMBOL=ATOH7;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13907;gnomAD_AF=8.022e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=1.778e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1029820465 10:68231432 T ENSG00000233590 ENST00000429634 Transcript downstream_gene_variant - - - - - rs1029820465 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1821;STRAND=-1;SYMBOL=LINC02640;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:54123;gnomAD_AF=8.022e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=1.778e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1029820465 10:68231432 T ENSG00000233590 ENST00000444086 Transcript downstream_gene_variant - - - - - rs1029820465 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1819;STRAND=-1;SYMBOL=LINC02640;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:54123;gnomAD_AF=8.022e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=1.778e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs751214066 10:68231554 C ENSG00000179774 ENST00000373673 Transcript missense_variant 560 124 42 R/G Cgc/Ggc rs751214066 IND=P2;ZYG=HET;IMPACT=MODERATE;STRAND=-1;SYMBOL=ATOH7;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13907;SIFT=deleterious(0);PolyPhen=probably_damaging(0.947);gnomAD_AF=0;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;CLIN_SIG=uncertain_significance;PHENO=1 rs751214066 10:68231554 C ENSG00000233590 ENST00000429634 Transcript downstream_gene_variant - - - - - rs751214066 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1699;STRAND=-1;SYMBOL=LINC02640;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:54123;gnomAD_AF=0;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;CLIN_SIG=uncertain_significance;PHENO=1 rs751214066 10:68231554 C ENSG00000233590 ENST00000444086 Transcript downstream_gene_variant - - - - - rs751214066 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1697;STRAND=-1;SYMBOL=LINC02640;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:54123;gnomAD_AF=0;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;CLIN_SIG=uncertain_significance;PHENO=1 rs1312918598 10:68231588 A ENSG00000179774 ENST00000373673 Transcript synonymous_variant 526 90 30 A gcC/gcT rs1312918598 IND=P2;ZYG=HET;IMPACT=LOW;STRAND=-1;SYMBOL=ATOH7;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13907;gnomAD_AF=0.0001252;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0.0003266;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1312918598 10:68231588 A ENSG00000233590 ENST00000429634 Transcript downstream_gene_variant - - - - - rs1312918598 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1665;STRAND=-1;SYMBOL=LINC02640;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:54123;gnomAD_AF=0.0001252;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0.0003266;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1312918598 10:68231588 A ENSG00000233590 ENST00000444086 Transcript downstream_gene_variant - - - - - rs1312918598 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1663;STRAND=-1;SYMBOL=LINC02640;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:54123;gnomAD_AF=0.0001252;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0.0003266;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1302212617 10:68422197 G ENSG00000138346 ENST00000358410 Transcript intron_variant - - - - - rs1302212617 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=DNA2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2939;gnomAD_AF=0;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1302212617 10:68422197 G ENSG00000138346 ENST00000399179 Transcript intron_variant,NMD_transcript_variant - - - - - rs1302212617 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=DNA2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2939;gnomAD_AF=0;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1302212617 10:68422197 G ENSG00000138346 ENST00000399180 Transcript intron_variant - - - - - rs1302212617 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=DNA2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2939;gnomAD_AF=0;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1302212617 10:68422197 G ENSG00000234806 ENST00000415623 Transcript upstream_gene_variant - - - - - rs1302212617 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2363;STRAND=1;SYMBOL=RPL26P29;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:36135;gnomAD_AF=0;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1302212617 10:68422197 G ENSG00000138346 ENST00000440722 Transcript intron_variant - - - - - rs1302212617 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;FLAGS=cds_start_NF;SYMBOL=DNA2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2939;gnomAD_AF=0;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1302212617 10:68422197 G ENSG00000138346 ENST00000550545 Transcript upstream_gene_variant - - - - - rs1302212617 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2774;STRAND=-1;SYMBOL=DNA2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2939;gnomAD_AF=0;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1302212617 10:68422197 G ENSG00000138346 ENST00000551118 Transcript intron_variant - - - - - rs1302212617 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=DNA2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2939;gnomAD_AF=0;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1064793617 10:68431906 T ENSG00000138346 ENST00000358410 Transcript missense_variant 2048 1939 647 V/M Gtg/Atg rs1064793617 IND=P3;ZYG=HET;IMPACT=MODERATE;STRAND=-1;SYMBOL=DNA2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2939;SIFT=deleterious(0.01);PolyPhen=probably_damaging(0.997);gnomAD_AF=1.605e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=1.771e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=6.539e-05;CLIN_SIG=uncertain_significance;PHENO=1 rs1064793617 10:68431906 T ENSG00000138346 ENST00000399179 Transcript missense_variant,NMD_transcript_variant 2028 1939 647 V/M Gtg/Atg rs1064793617 IND=P3;ZYG=HET;IMPACT=MODERATE;STRAND=-1;SYMBOL=DNA2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2939;SIFT=deleterious(0);PolyPhen=probably_damaging(0.996);gnomAD_AF=1.605e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=1.771e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=6.539e-05;CLIN_SIG=uncertain_significance;PHENO=1 rs1064793617 10:68431906 T ENSG00000138346 ENST00000399180 Transcript missense_variant 2028 1939 647 V/M Gtg/Atg rs1064793617 IND=P3;ZYG=HET;IMPACT=MODERATE;STRAND=-1;SYMBOL=DNA2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2939;SIFT=deleterious(0);PolyPhen=probably_damaging(0.996);gnomAD_AF=1.605e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=1.771e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=6.539e-05;CLIN_SIG=uncertain_significance;PHENO=1 rs1064793617 10:68431906 T ENSG00000138346 ENST00000440722 Transcript upstream_gene_variant - - - - - rs1064793617 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1299;STRAND=-1;FLAGS=cds_start_NF;SYMBOL=DNA2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2939;gnomAD_AF=1.605e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=1.771e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=6.539e-05;CLIN_SIG=uncertain_significance;PHENO=1 rs1064793617 10:68431906 T ENSG00000138346 ENST00000478029 Transcript downstream_gene_variant - - - - - rs1064793617 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=4948;STRAND=-1;SYMBOL=DNA2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2939;gnomAD_AF=1.605e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=1.771e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=6.539e-05;CLIN_SIG=uncertain_significance;PHENO=1 rs1064793617 10:68431906 T ENSG00000138346 ENST00000551118 Transcript missense_variant 1961 1939 647 V/M Gtg/Atg rs1064793617 IND=P3;ZYG=HET;IMPACT=MODERATE;STRAND=-1;SYMBOL=DNA2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2939;SIFT=deleterious(0);PolyPhen=probably_damaging(0.965);gnomAD_AF=1.605e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=1.771e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=6.539e-05;CLIN_SIG=uncertain_significance;PHENO=1 rs1306077508 10:68432372 C ENSG00000138346 ENST00000358410 Transcript intron_variant - - - - - rs1306077508 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=DNA2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2939;gnomAD_AF=4.297e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=3.454e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1306077508 10:68432372 C ENSG00000138346 ENST00000399179 Transcript intron_variant,NMD_transcript_variant - - - - - rs1306077508 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=DNA2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2939;gnomAD_AF=4.297e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=3.454e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1306077508 10:68432372 C ENSG00000138346 ENST00000399180 Transcript intron_variant - - - - - rs1306077508 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=DNA2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2939;gnomAD_AF=4.297e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=3.454e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1306077508 10:68432372 C ENSG00000138346 ENST00000440722 Transcript upstream_gene_variant - - - - - rs1306077508 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1765;STRAND=-1;FLAGS=cds_start_NF;SYMBOL=DNA2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2939;gnomAD_AF=4.297e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=3.454e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1306077508 10:68432372 C ENSG00000138346 ENST00000478029 Transcript downstream_gene_variant - - - - - rs1306077508 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=4482;STRAND=-1;SYMBOL=DNA2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2939;gnomAD_AF=4.297e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=3.454e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1306077508 10:68432372 C ENSG00000138346 ENST00000551118 Transcript intron_variant - - - - - rs1306077508 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=DNA2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2939;gnomAD_AF=4.297e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=3.454e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs774207032 10:68444923 A ENSG00000138346 ENST00000358410 Transcript splice_region_variant,synonymous_variant 1327 1218 406 S agC/agT rs774207032 IND=P3;ZYG=HET;IMPACT=LOW;STRAND=-1;SYMBOL=DNA2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2939;gnomAD_AF=4.024e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=8.881e-06;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs774207032 10:68444923 A ENSG00000138346 ENST00000399179 Transcript splice_region_variant,synonymous_variant,NMD_transcript_variant 1307 1218 406 S agC/agT rs774207032 IND=P3;ZYG=HET;IMPACT=LOW;STRAND=-1;SYMBOL=DNA2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2939;gnomAD_AF=4.024e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=8.881e-06;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs774207032 10:68444923 A ENSG00000138346 ENST00000399180 Transcript splice_region_variant,synonymous_variant 1307 1218 406 S agC/agT rs774207032 IND=P3;ZYG=HET;IMPACT=LOW;STRAND=-1;SYMBOL=DNA2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2939;gnomAD_AF=4.024e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=8.881e-06;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs774207032 10:68444923 A ENSG00000138346 ENST00000478029 Transcript upstream_gene_variant - - - - - rs774207032 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1917;STRAND=-1;SYMBOL=DNA2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2939;gnomAD_AF=4.024e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=8.881e-06;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs774207032 10:68444923 A ENSG00000138346 ENST00000551118 Transcript splice_region_variant,synonymous_variant 1240 1218 406 S agC/agT rs774207032 IND=P3;ZYG=HET;IMPACT=LOW;STRAND=-1;SYMBOL=DNA2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2939;gnomAD_AF=4.024e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=8.881e-06;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs376901918 10:68470148 T ENSG00000138346 ENST00000358410 Transcript synonymous_variant 199 90 30 V gtG/gtA rs376901918 IND=P3;ZYG=HET;IMPACT=LOW;STRAND=-1;SYMBOL=DNA2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2939;gnomAD_AF=2.239e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=4.713e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;CLIN_SIG=likely_benign;PHENO=1 rs376901918 10:68470148 T ENSG00000138346 ENST00000399179 Transcript synonymous_variant,NMD_transcript_variant 179 90 30 V gtG/gtA rs376901918 IND=P3;ZYG=HET;IMPACT=LOW;STRAND=-1;SYMBOL=DNA2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2939;gnomAD_AF=2.239e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=4.713e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;CLIN_SIG=likely_benign;PHENO=1 rs376901918 10:68470148 T ENSG00000138346 ENST00000399180 Transcript synonymous_variant 179 90 30 V gtG/gtA rs376901918 IND=P3;ZYG=HET;IMPACT=LOW;STRAND=-1;SYMBOL=DNA2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2939;gnomAD_AF=2.239e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=4.713e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;CLIN_SIG=likely_benign;PHENO=1 rs376901918 10:68470148 T ENSG00000138346 ENST00000550357 Transcript 3_prime_UTR_variant,NMD_transcript_variant 236 - - - - rs376901918 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=DNA2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2939;gnomAD_AF=2.239e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=4.713e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;CLIN_SIG=likely_benign;PHENO=1 rs376901918 10:68470148 T ENSG00000138346 ENST00000551118 Transcript synonymous_variant 112 90 30 V gtG/gtA rs376901918 IND=P3;ZYG=HET;IMPACT=LOW;STRAND=-1;SYMBOL=DNA2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2939;gnomAD_AF=2.239e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=4.713e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;CLIN_SIG=likely_benign;PHENO=1 rs779404104 10:68471800 T ENSG00000138346 ENST00000358410 Transcript missense_variant 174 65 22 P/Q cCg/cAg rs779404104,COSV64429087 IND=P3;ZYG=HET;IMPACT=MODERATE;STRAND=-1;SYMBOL=DNA2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2939;SIFT=deleterious_low_confidence(0.02);PolyPhen=benign(0.042);gnomAD_AF=4.167e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=3.405e-05;SOMATIC=0,1;PHENO=0,1 rs779404104 10:68471800 T ENSG00000138346 ENST00000399179 Transcript missense_variant,NMD_transcript_variant 154 65 22 P/Q cCg/cAg rs779404104,COSV64429087 IND=P3;ZYG=HET;IMPACT=MODERATE;STRAND=-1;SYMBOL=DNA2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2939;SIFT=deleterious_low_confidence(0.01);PolyPhen=benign(0.368);gnomAD_AF=4.167e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=3.405e-05;SOMATIC=0,1;PHENO=0,1 rs779404104 10:68471800 T ENSG00000138346 ENST00000399180 Transcript missense_variant 154 65 22 P/Q cCg/cAg rs779404104,COSV64429087 IND=P3;ZYG=HET;IMPACT=MODERATE;STRAND=-1;SYMBOL=DNA2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2939;SIFT=deleterious_low_confidence(0.01);PolyPhen=benign(0.368);gnomAD_AF=4.167e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=3.405e-05;SOMATIC=0,1;PHENO=0,1 rs779404104 10:68471800 T ENSG00000138346 ENST00000550357 Transcript missense_variant,NMD_transcript_variant 87 65 22 P/Q cCg/cAg rs779404104,COSV64429087 IND=P3;ZYG=HET;IMPACT=MODERATE;STRAND=-1;SYMBOL=DNA2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2939;SIFT=deleterious_low_confidence(0);PolyPhen=benign(0.368);gnomAD_AF=4.167e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=3.405e-05;SOMATIC=0,1;PHENO=0,1 rs779404104 10:68471800 T ENSG00000138346 ENST00000551118 Transcript missense_variant 87 65 22 P/Q cCg/cAg rs779404104,COSV64429087 IND=P3;ZYG=HET;IMPACT=MODERATE;STRAND=-1;SYMBOL=DNA2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2939;SIFT=deleterious(0.01);PolyPhen=possibly_damaging(0.467);gnomAD_AF=4.167e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=3.405e-05;SOMATIC=0,1;PHENO=0,1 rs117798253 10:98384333 T ENSG00000119943 ENST00000370575 Transcript intron_variant - - - - - rs117798253 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=PYROXD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23517;AF=0.0056;AFR_AF=0.0015;AMR_AF=0.0072;EAS_AF=0;EUR_AF=0.0169;SAS_AF=0.0041 rs117798253 10:98384333 T ENSG00000119943 ENST00000464808 Transcript downstream_gene_variant - - - - - rs117798253 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2868;STRAND=-1;SYMBOL=PYROXD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23517;AF=0.0056;AFR_AF=0.0015;AMR_AF=0.0072;EAS_AF=0;EUR_AF=0.0169;SAS_AF=0.0041 rs117798253 10:98384333 T ENSG00000119943 ENST00000483923 Transcript intron_variant,non_coding_transcript_variant - - - - - rs117798253 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=PYROXD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23517;AF=0.0056;AFR_AF=0.0015;AMR_AF=0.0072;EAS_AF=0;EUR_AF=0.0169;SAS_AF=0.0041 rs7085599 10:98384444 T ENSG00000119943 ENST00000370575 Transcript intron_variant - - - - - rs7085599 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=PYROXD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23517;AF=0.0563;AFR_AF=0.1959;AMR_AF=0.0274;EAS_AF=0;EUR_AF=0.004;SAS_AF=0 rs7085599 10:98384444 T ENSG00000119943 ENST00000464808 Transcript downstream_gene_variant - - - - - rs7085599 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2757;STRAND=-1;SYMBOL=PYROXD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23517;AF=0.0563;AFR_AF=0.1959;AMR_AF=0.0274;EAS_AF=0;EUR_AF=0.004;SAS_AF=0 rs7085599 10:98384444 T ENSG00000119943 ENST00000483923 Transcript intron_variant,non_coding_transcript_variant - - - - - rs7085599 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=PYROXD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23517;AF=0.0563;AFR_AF=0.1959;AMR_AF=0.0274;EAS_AF=0;EUR_AF=0.004;SAS_AF=0 rs538505970 10:98385022 A ENSG00000119943 ENST00000370575 Transcript missense_variant 1647 1600 534 R/C Cgc/Tgc rs538505970,COSV100995982 IND=P1;ZYG=HET;IMPACT=MODERATE;STRAND=-1;SYMBOL=PYROXD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23517;SIFT=deleterious(0);PolyPhen=probably_damaging(1);AF=0.0006;AFR_AF=0;AMR_AF=0;EAS_AF=0.003;EUR_AF=0;SAS_AF=0;gnomAD_AF=0.0002352;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0.003209;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs538505970 10:98385022 A ENSG00000119943 ENST00000464808 Transcript downstream_gene_variant - - - - - rs538505970,COSV100995982 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2179;STRAND=-1;SYMBOL=PYROXD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23517;AF=0.0006;AFR_AF=0;AMR_AF=0;EAS_AF=0.003;EUR_AF=0;SAS_AF=0;gnomAD_AF=0.0002352;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0.003209;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs538505970 10:98385022 A ENSG00000119943 ENST00000483923 Transcript non_coding_transcript_exon_variant 2486 - - - - rs538505970,COSV100995982 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=PYROXD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23517;AF=0.0006;AFR_AF=0;AMR_AF=0;EAS_AF=0.003;EUR_AF=0;SAS_AF=0;gnomAD_AF=0.0002352;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0.003209;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs571101180 10:98385446 T ENSG00000119943 ENST00000370575 Transcript intron_variant - - - - - rs571101180 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=PYROXD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23517;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs571101180 10:98385446 T ENSG00000119943 ENST00000464808 Transcript downstream_gene_variant - - - - - rs571101180 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1755;STRAND=-1;SYMBOL=PYROXD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23517;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs571101180 10:98385446 T ENSG00000119943 ENST00000483923 Transcript intron_variant,non_coding_transcript_variant - - - - - rs571101180 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=PYROXD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23517;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs537963771 10:98385924 C ENSG00000119943 ENST00000370575 Transcript intron_variant - - - - - rs537963771 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=PYROXD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23517;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs537963771 10:98385924 C ENSG00000119943 ENST00000464808 Transcript downstream_gene_variant - - - - - rs537963771 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1277;STRAND=-1;SYMBOL=PYROXD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23517;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs537963771 10:98385924 C ENSG00000119943 ENST00000483923 Transcript intron_variant,non_coding_transcript_variant - - - - - rs537963771 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=PYROXD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23517;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs570975274 10:98388667 T ENSG00000119943 ENST00000370575 Transcript intron_variant - - - - - rs570975274 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=PYROXD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23517;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001 rs570975274 10:98388667 T ENSG00000119943 ENST00000464808 Transcript upstream_gene_variant - - - - - rs570975274 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=231;STRAND=-1;SYMBOL=PYROXD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23517;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001 rs570975274 10:98388667 T ENSG00000119943 ENST00000483923 Transcript intron_variant,non_coding_transcript_variant - - - - - rs570975274 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=PYROXD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23517;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001 rs6584191 10:98392298 A ENSG00000119943 ENST00000370575 Transcript intron_variant - - - - - rs6584191,COSV65330780 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=PYROXD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23517;AFR_AF=0.0023;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs6584191 10:98392298 A ENSG00000284415 ENST00000408492 Transcript downstream_gene_variant - - - - - rs6584191,COSV65330780 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=2920;STRAND=-1;SYMBOL=MIR1287;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:35280;AFR_AF=0.0023;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs6584191 10:98392298 A ENSG00000119943 ENST00000464808 Transcript upstream_gene_variant - - - - - rs6584191,COSV65330780 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=3862;STRAND=-1;SYMBOL=PYROXD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23517;AFR_AF=0.0023;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs6584191 10:98392298 A ENSG00000119943 ENST00000483923 Transcript intron_variant,non_coding_transcript_variant - - - - - rs6584191,COSV65330780 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=PYROXD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23517;AFR_AF=0.0023;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs547103539 10:98393489 G ENSG00000119943 ENST00000370575 Transcript intron_variant - - - - - rs547103539 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=PYROXD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23517;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs547103539 10:98393489 G ENSG00000284415 ENST00000408492 Transcript downstream_gene_variant - - - - - rs547103539 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=1729;STRAND=-1;SYMBOL=MIR1287;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:35280;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs547103539 10:98393489 G ENSG00000119943 ENST00000483923 Transcript intron_variant,non_coding_transcript_variant - - - - - rs547103539 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=PYROXD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23517;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs185765077 10:98396312 T ENSG00000119943 ENST00000370575 Transcript intron_variant - - - - - rs185765077 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=PYROXD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23517;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs185765077 10:98396312 T ENSG00000284415 ENST00000408492 Transcript upstream_gene_variant - - - - - rs185765077 IND=P1;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=1005;STRAND=-1;SYMBOL=MIR1287;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:35280;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs185765077 10:98396312 T ENSG00000119943 ENST00000483923 Transcript intron_variant,non_coding_transcript_variant - - - - - rs185765077 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=PYROXD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23517;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs147876416 10:98399457 A ENSG00000119943 ENST00000370575 Transcript intron_variant - - - - - rs147876416 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=PYROXD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23517;AF=0.0024;AFR_AF=0.0083;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs147876416 10:98399457 A ENSG00000284415 ENST00000408492 Transcript upstream_gene_variant - - - - - rs147876416 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=4150;STRAND=-1;SYMBOL=MIR1287;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:35280;AF=0.0024;AFR_AF=0.0083;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs147876416 10:98399457 A ENSG00000119943 ENST00000483923 Transcript intron_variant,non_coding_transcript_variant - - - - - rs147876416 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=PYROXD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23517;AF=0.0024;AFR_AF=0.0083;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs183449910 10:98403271 C ENSG00000119943 ENST00000370575 Transcript intron_variant - - - - - rs183449910 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=PYROXD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23517;AF=0.0004;AFR_AF=0.0015;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs183449910 10:98403271 C ENSG00000119943 ENST00000483923 Transcript intron_variant,non_coding_transcript_variant - - - - - rs183449910 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=PYROXD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23517;AF=0.0004;AFR_AF=0.0015;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs190545664 10:98403893 G ENSG00000119943 ENST00000370575 Transcript intron_variant - - - - - rs190545664 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=PYROXD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23517;AF=0.0006;AFR_AF=0;AMR_AF=0;EAS_AF=0.003;EUR_AF=0;SAS_AF=0 rs190545664 10:98403893 G ENSG00000119943 ENST00000483923 Transcript intron_variant,non_coding_transcript_variant - - - - - rs190545664 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=PYROXD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23517;AF=0.0006;AFR_AF=0;AMR_AF=0;EAS_AF=0.003;EUR_AF=0;SAS_AF=0 rs147109339 10:98407600 A ENSG00000119943 ENST00000370575 Transcript synonymous_variant 344 297 99 Y taC/taT rs147109339 IND=P2;ZYG=HET;IMPACT=LOW;STRAND=-1;SYMBOL=PYROXD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23517;AF=0.0004;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0.001;SAS_AF=0;gnomAD_AF=0.001017;gnomAD_AFR_AF=0.0002471;gnomAD_AMR_AF=0.0009271;gnomAD_ASJ_AF=0.01135;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0.0008725;gnomAD_OTH_AF=0.0009801;gnomAD_SAS_AF=0 rs147109339 10:98407600 A ENSG00000119943 ENST00000483923 Transcript non_coding_transcript_exon_variant 1199 - - - - rs147109339 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=PYROXD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23517;AF=0.0004;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0.001;SAS_AF=0;gnomAD_AF=0.001017;gnomAD_AFR_AF=0.0002471;gnomAD_AMR_AF=0.0009271;gnomAD_ASJ_AF=0.01135;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0.0008725;gnomAD_OTH_AF=0.0009801;gnomAD_SAS_AF=0 rs139568446 10:98411840 G ENSG00000107521 ENST00000325103 Transcript downstream_gene_variant - - - - - rs139568446 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=4358;STRAND=-1;SYMBOL=HPS1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5163;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs139568446 10:98411840 G ENSG00000107521 ENST00000361490 Transcript downstream_gene_variant - - - - - rs139568446 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=4358;STRAND=-1;SYMBOL=HPS1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5163;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs139568446 10:98411840 G ENSG00000119943 ENST00000370575 Transcript intron_variant - - - - - rs139568446 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=PYROXD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23517;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs139568446 10:98411840 G ENSG00000119943 ENST00000462874 Transcript downstream_gene_variant - - - - - rs139568446 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2327;STRAND=-1;SYMBOL=PYROXD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23517;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs139568446 10:98411840 G ENSG00000119943 ENST00000483923 Transcript non_coding_transcript_exon_variant 38 - - - - rs139568446 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=PYROXD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23517;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs139568446 10:98411840 G ENSG00000119943 ENST00000494941 Transcript downstream_gene_variant - - - - - rs139568446 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2108;STRAND=-1;SYMBOL=PYROXD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23517;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs146366464 10:126035080 G ENSG00000148848 ENST00000368679 Transcript intron_variant - - - - - rs146366464 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=ADAM12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:190;AF=0.0016;AFR_AF=0.0038;AMR_AF=0;EAS_AF=0;EUR_AF=0.003;SAS_AF=0 rs146366464 10:126035080 G ENSG00000148848 ENST00000448723 Transcript intron_variant - - - - - rs146366464 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=ADAM12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:190;AF=0.0016;AFR_AF=0.0038;AMR_AF=0;EAS_AF=0;EUR_AF=0.003;SAS_AF=0 rs552045616 10:126043883 T ENSG00000148848 ENST00000368676 Transcript intron_variant - - - - - rs552045616 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=ADAM12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:190;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs552045616 10:126043883 T ENSG00000148848 ENST00000368679 Transcript intron_variant - - - - - rs552045616 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=ADAM12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:190;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs552045616 10:126043883 T ENSG00000148848 ENST00000448723 Transcript intron_variant - - - - - rs552045616 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=ADAM12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:190;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs144748827 10:126057404 C ENSG00000148848 ENST00000368676 Transcript intron_variant - - - - - rs144748827 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=ADAM12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:190;AF=0.0038;AFR_AF=0.0015;AMR_AF=0.0014;EAS_AF=0.0159;EUR_AF=0;SAS_AF=0 rs144748827 10:126057404 C ENSG00000148848 ENST00000368679 Transcript intron_variant - - - - - rs144748827 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=ADAM12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:190;AF=0.0038;AFR_AF=0.0015;AMR_AF=0.0014;EAS_AF=0.0159;EUR_AF=0;SAS_AF=0 rs144748827 10:126057404 C ENSG00000148848 ENST00000448723 Transcript intron_variant - - - - - rs144748827 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=ADAM12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:190;AF=0.0038;AFR_AF=0.0015;AMR_AF=0.0014;EAS_AF=0.0159;EUR_AF=0;SAS_AF=0 rs144748827 10:126057404 C ENSG00000148848 ENST00000467145 Transcript intron_variant,non_coding_transcript_variant - - - - - rs144748827 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=ADAM12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:190;AF=0.0038;AFR_AF=0.0015;AMR_AF=0.0014;EAS_AF=0.0159;EUR_AF=0;SAS_AF=0 rs531916288 10:126075896 T ENSG00000148848 ENST00000368676 Transcript intron_variant - - - - - rs531916288 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=ADAM12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:190;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs531916288 10:126075896 T ENSG00000148848 ENST00000368679 Transcript intron_variant - - - - - rs531916288 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=ADAM12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:190;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs531916288 10:126075896 T ENSG00000148848 ENST00000448723 Transcript intron_variant - - - - - rs531916288 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=ADAM12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:190;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs564631694 10:126087511 T ENSG00000148848 ENST00000368676 Transcript intron_variant - - - - - rs564631694 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=ADAM12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:190;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs564631694 10:126087511 T ENSG00000148848 ENST00000368679 Transcript intron_variant - - - - - rs564631694 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=ADAM12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:190;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs564631694 10:126087511 T ENSG00000148848 ENST00000448723 Transcript intron_variant - - - - - rs564631694 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=ADAM12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:190;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs564631694 10:126087511 T ENSG00000148848 ENST00000485388 Transcript downstream_gene_variant - - - - - rs564631694 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=3225;STRAND=-1;SYMBOL=ADAM12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:190;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs556106529 10:126089051 G ENSG00000148848 ENST00000368676 Transcript intron_variant - - - - - rs556106529 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=ADAM12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:190;AF=0.0004;AFR_AF=0.0015;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs556106529 10:126089051 G ENSG00000148848 ENST00000368679 Transcript intron_variant - - - - - rs556106529 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=ADAM12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:190;AF=0.0004;AFR_AF=0.0015;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs556106529 10:126089051 G ENSG00000148848 ENST00000448723 Transcript intron_variant - - - - - rs556106529 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=ADAM12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:190;AF=0.0004;AFR_AF=0.0015;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs556106529 10:126089051 G ENSG00000148848 ENST00000485388 Transcript downstream_gene_variant - - - - - rs556106529 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1685;STRAND=-1;SYMBOL=ADAM12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:190;AF=0.0004;AFR_AF=0.0015;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs576774229 10:126094787 A ENSG00000148848 ENST00000368676 Transcript intron_variant - - - - - rs576774229 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=ADAM12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:190;AF=0.0004;AFR_AF=0.0015;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs576774229 10:126094787 A ENSG00000148848 ENST00000368679 Transcript intron_variant - - - - - rs576774229 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=ADAM12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:190;AF=0.0004;AFR_AF=0.0015;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs576774229 10:126094787 A ENSG00000148848 ENST00000448723 Transcript intron_variant - - - - - rs576774229 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=ADAM12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:190;AF=0.0004;AFR_AF=0.0015;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs576774229 10:126094787 A ENSG00000148848 ENST00000485388 Transcript intron_variant,non_coding_transcript_variant - - - - - rs576774229 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=ADAM12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:190;AF=0.0004;AFR_AF=0.0015;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs371529833 10:126104500 T ENSG00000148848 ENST00000368676 Transcript intron_variant - - - - - rs371529833 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=ADAM12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:190;AF=0.0004;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs371529833 10:126104500 T ENSG00000148848 ENST00000368679 Transcript intron_variant - - - - - rs371529833 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=ADAM12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:190;AF=0.0004;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs371529833 10:126104500 T ENSG00000148848 ENST00000448723 Transcript intron_variant - - - - - rs371529833 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=ADAM12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:190;AF=0.0004;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs371529833 10:126104500 T ENSG00000148848 ENST00000485388 Transcript intron_variant,non_coding_transcript_variant - - - - - rs371529833 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=ADAM12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:190;AF=0.0004;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs564626655 10:126183789 G ENSG00000148848 ENST00000368676 Transcript intron_variant - - - - - rs564626655 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=ADAM12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:190;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001 rs564626655 10:126183789 G ENSG00000148848 ENST00000368679 Transcript intron_variant - - - - - rs564626655 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=ADAM12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:190;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001 rs564626655 10:126183789 G ENSG00000148848 ENST00000448723 Transcript intron_variant - - - - - rs564626655 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=ADAM12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:190;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001 rs144590134 10:126185737 C ENSG00000148848 ENST00000368676 Transcript intron_variant - - - - - rs144590134 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=ADAM12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:190;AF=0.0032;AFR_AF=0;AMR_AF=0.0043;EAS_AF=0;EUR_AF=0.008;SAS_AF=0.0051 rs144590134 10:126185737 C ENSG00000148848 ENST00000368679 Transcript intron_variant - - - - - rs144590134 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=ADAM12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:190;AF=0.0032;AFR_AF=0;AMR_AF=0.0043;EAS_AF=0;EUR_AF=0.008;SAS_AF=0.0051 rs144590134 10:126185737 C ENSG00000148848 ENST00000448723 Transcript intron_variant - - - - - rs144590134 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=ADAM12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:190;AF=0.0032;AFR_AF=0;AMR_AF=0.0043;EAS_AF=0;EUR_AF=0.008;SAS_AF=0.0051 rs6597744 10:126206434 A ENSG00000148848 ENST00000368676 Transcript intron_variant - - - - - rs6597744 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=ADAM12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:190;AF=0.7899;AFR_AF=0.7859;AMR_AF=0.7738;EAS_AF=0.7212;EUR_AF=0.8201;SAS_AF=0.8466 rs6597744 10:126206434 A ENSG00000148848 ENST00000368679 Transcript intron_variant - - - - - rs6597744 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=ADAM12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:190;AF=0.7899;AFR_AF=0.7859;AMR_AF=0.7738;EAS_AF=0.7212;EUR_AF=0.8201;SAS_AF=0.8466 rs6597744 10:126206434 A ENSG00000148848 ENST00000448723 Transcript intron_variant - - - - - rs6597744 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=ADAM12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:190;AF=0.7899;AFR_AF=0.7859;AMR_AF=0.7738;EAS_AF=0.7212;EUR_AF=0.8201;SAS_AF=0.8466 rs72828749 10:126337300 G ENSG00000148848 ENST00000368676 Transcript intron_variant - - - - - rs72828749 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=ADAM12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:190;AF=0.1238;AFR_AF=0.1135;AMR_AF=0.1398;EAS_AF=0.0734;EUR_AF=0.2107;SAS_AF=0.089 rs72828749 10:126337300 G ENSG00000148848 ENST00000368679 Transcript intron_variant - - - - - rs72828749 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=ADAM12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:190;AF=0.1238;AFR_AF=0.1135;AMR_AF=0.1398;EAS_AF=0.0734;EUR_AF=0.2107;SAS_AF=0.089 rs72828749 10:126337300 G ENSG00000148848 ENST00000448723 Transcript intron_variant - - - - - rs72828749 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=ADAM12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:190;AF=0.1238;AFR_AF=0.1135;AMR_AF=0.1398;EAS_AF=0.0734;EUR_AF=0.2107;SAS_AF=0.089 rs576248710 10:126349327 A ENSG00000148848 ENST00000368676 Transcript intron_variant - - - - - rs576248710 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=ADAM12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:190;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001 rs576248710 10:126349327 A ENSG00000148848 ENST00000368679 Transcript intron_variant - - - - - rs576248710 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=ADAM12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:190;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001 rs576248710 10:126349327 A ENSG00000148848 ENST00000448723 Transcript intron_variant - - - - - rs576248710 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=ADAM12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:190;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001 rs550384222 13:51764121 C ENSG00000102796 ENST00000218981 Transcript downstream_gene_variant - - - - - rs550384222 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=3874;STRAND=-1;SYMBOL=DHRS12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25832;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs550384222 13:51764121 C ENSG00000139668 ENST00000298125 Transcript 3_prime_UTR_variant 5781 - - - - rs550384222 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=WDFY2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:20482;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs550384222 13:51764121 C ENSG00000102796 ENST00000444610 Transcript downstream_gene_variant - - - - - rs550384222 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=3872;STRAND=-1;SYMBOL=DHRS12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25832;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs550384222 13:51764121 C ENSG00000102796 ENST00000469957 Transcript downstream_gene_variant - - - - - rs550384222 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=4494;STRAND=-1;SYMBOL=DHRS12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25832;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs550384222 13:51764121 C ENSG00000285444 ENST00000642706 Transcript 3_prime_UTR_variant,NMD_transcript_variant 4202 - - - - rs550384222 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs550384222 13:51764121 C ENSG00000102796 ENST00000650833 Transcript downstream_gene_variant - - - - - rs550384222 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=3872;STRAND=-1;SYMBOL=DHRS12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25832;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs550384222 13:51764121 C ENSG00000102796 ENST00000682342 Transcript downstream_gene_variant - - - - - rs550384222 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=3874;STRAND=-1;SYMBOL=DHRS12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25832;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs544885052 13:51767519 G ENSG00000102796 ENST00000218981 Transcript downstream_gene_variant - - - - - rs544885052 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=476;STRAND=-1;SYMBOL=DHRS12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25832;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs544885052 13:51767519 G ENSG00000102796 ENST00000280056 Transcript downstream_gene_variant - - - - - rs544885052 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=3265;STRAND=-1;SYMBOL=DHRS12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25832;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs544885052 13:51767519 G ENSG00000139668 ENST00000298125 Transcript 3_prime_UTR_variant 9179 - - - - rs544885052 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=WDFY2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:20482;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs544885052 13:51767519 G ENSG00000102796 ENST00000444610 Transcript downstream_gene_variant - - - - - rs544885052 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=474;STRAND=-1;SYMBOL=DHRS12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25832;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs544885052 13:51767519 G ENSG00000102796 ENST00000469957 Transcript downstream_gene_variant - - - - - rs544885052 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=1096;STRAND=-1;SYMBOL=DHRS12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25832;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs544885052 13:51767519 G ENSG00000102796 ENST00000472372 Transcript downstream_gene_variant - - - - - rs544885052 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=4302;STRAND=-1;SYMBOL=DHRS12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25832;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs544885052 13:51767519 G ENSG00000102796 ENST00000489680 Transcript downstream_gene_variant - - - - - rs544885052 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=4302;STRAND=-1;SYMBOL=DHRS12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25832;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs544885052 13:51767519 G ENSG00000102796 ENST00000490949 Transcript downstream_gene_variant - - - - - rs544885052 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=4302;STRAND=-1;SYMBOL=DHRS12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25832;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs544885052 13:51767519 G ENSG00000285444 ENST00000642706 Transcript intron_variant,NMD_transcript_variant - - - - - rs544885052 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs544885052 13:51767519 G ENSG00000102796 ENST00000650833 Transcript downstream_gene_variant - - - - - rs544885052 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=474;STRAND=-1;SYMBOL=DHRS12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25832;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs544885052 13:51767519 G ENSG00000102796 ENST00000682342 Transcript downstream_gene_variant - - - - - rs544885052 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=476;STRAND=-1;SYMBOL=DHRS12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25832;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs114765799 13:51770087 A ENSG00000102796 ENST00000218981 Transcript intron_variant - - - - - rs114765799 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=DHRS12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25832;AF=0.0044;AFR_AF=0.0136;AMR_AF=0.0058;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs114765799 13:51770087 A ENSG00000102796 ENST00000280056 Transcript downstream_gene_variant - - - - - rs114765799 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=697;STRAND=-1;SYMBOL=DHRS12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25832;AF=0.0044;AFR_AF=0.0136;AMR_AF=0.0058;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs114765799 13:51770087 A ENSG00000139668 ENST00000298125 Transcript downstream_gene_variant - - - - - rs114765799 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2378;STRAND=1;SYMBOL=WDFY2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:20482;AF=0.0044;AFR_AF=0.0136;AMR_AF=0.0058;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs114765799 13:51770087 A ENSG00000102796 ENST00000444610 Transcript intron_variant - - - - - rs114765799 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=DHRS12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25832;AF=0.0044;AFR_AF=0.0136;AMR_AF=0.0058;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs114765799 13:51770087 A ENSG00000102796 ENST00000461948 Transcript downstream_gene_variant - - - - - rs114765799 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2679;STRAND=-1;FLAGS=cds_start_NF;SYMBOL=DHRS12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25832;AF=0.0044;AFR_AF=0.0136;AMR_AF=0.0058;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs114765799 13:51770087 A ENSG00000102796 ENST00000469957 Transcript intron_variant,non_coding_transcript_variant - - - - - rs114765799 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=DHRS12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25832;AF=0.0044;AFR_AF=0.0136;AMR_AF=0.0058;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs114765799 13:51770087 A ENSG00000102796 ENST00000472372 Transcript downstream_gene_variant - - - - - rs114765799 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1734;STRAND=-1;SYMBOL=DHRS12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25832;AF=0.0044;AFR_AF=0.0136;AMR_AF=0.0058;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs114765799 13:51770087 A ENSG00000102796 ENST00000489680 Transcript downstream_gene_variant - - - - - rs114765799 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1734;STRAND=-1;SYMBOL=DHRS12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25832;AF=0.0044;AFR_AF=0.0136;AMR_AF=0.0058;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs114765799 13:51770087 A ENSG00000102796 ENST00000490949 Transcript downstream_gene_variant - - - - - rs114765799 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1734;STRAND=-1;SYMBOL=DHRS12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25832;AF=0.0044;AFR_AF=0.0136;AMR_AF=0.0058;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs114765799 13:51770087 A ENSG00000285444 ENST00000642706 Transcript intron_variant,NMD_transcript_variant - - - - - rs114765799 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;AF=0.0044;AFR_AF=0.0136;AMR_AF=0.0058;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs114765799 13:51770087 A ENSG00000102796 ENST00000650833 Transcript intron_variant,NMD_transcript_variant - - - - - rs114765799 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=DHRS12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25832;AF=0.0044;AFR_AF=0.0136;AMR_AF=0.0058;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs114765799 13:51770087 A ENSG00000102796 ENST00000682342 Transcript intron_variant,NMD_transcript_variant - - - - - rs114765799 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=DHRS12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25832;AF=0.0044;AFR_AF=0.0136;AMR_AF=0.0058;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs371091134 13:51771930 A ENSG00000102796 ENST00000218981 Transcript intron_variant - - - - - rs371091134 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=DHRS12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25832;AF=0.0006;AFR_AF=0.0023;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=0.0001794;gnomAD_AFR_AF=0.002407;gnomAD_AMR_AF=5.795e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=1.764e-05;gnomAD_OTH_AF=0.0001636;gnomAD_SAS_AF=3.268e-05 rs371091134 13:51771930 A ENSG00000102796 ENST00000280056 Transcript intron_variant - - - - - rs371091134 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=DHRS12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25832;AF=0.0006;AFR_AF=0.0023;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=0.0001794;gnomAD_AFR_AF=0.002407;gnomAD_AMR_AF=5.795e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=1.764e-05;gnomAD_OTH_AF=0.0001636;gnomAD_SAS_AF=3.268e-05 rs371091134 13:51771930 A ENSG00000139668 ENST00000298125 Transcript downstream_gene_variant - - - - - rs371091134 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=4221;STRAND=1;SYMBOL=WDFY2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:20482;AF=0.0006;AFR_AF=0.0023;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=0.0001794;gnomAD_AFR_AF=0.002407;gnomAD_AMR_AF=5.795e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=1.764e-05;gnomAD_OTH_AF=0.0001636;gnomAD_SAS_AF=3.268e-05 rs371091134 13:51771930 A ENSG00000102796 ENST00000444610 Transcript intron_variant - - - - - rs371091134 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=DHRS12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25832;AF=0.0006;AFR_AF=0.0023;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=0.0001794;gnomAD_AFR_AF=0.002407;gnomAD_AMR_AF=5.795e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=1.764e-05;gnomAD_OTH_AF=0.0001636;gnomAD_SAS_AF=3.268e-05 rs371091134 13:51771930 A ENSG00000102796 ENST00000461948 Transcript downstream_gene_variant - - - - - rs371091134 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=836;STRAND=-1;FLAGS=cds_start_NF;SYMBOL=DHRS12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25832;AF=0.0006;AFR_AF=0.0023;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=0.0001794;gnomAD_AFR_AF=0.002407;gnomAD_AMR_AF=5.795e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=1.764e-05;gnomAD_OTH_AF=0.0001636;gnomAD_SAS_AF=3.268e-05 rs371091134 13:51771930 A ENSG00000102796 ENST00000469957 Transcript intron_variant,non_coding_transcript_variant - - - - - rs371091134 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=DHRS12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25832;AF=0.0006;AFR_AF=0.0023;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=0.0001794;gnomAD_AFR_AF=0.002407;gnomAD_AMR_AF=5.795e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=1.764e-05;gnomAD_OTH_AF=0.0001636;gnomAD_SAS_AF=3.268e-05 rs371091134 13:51771930 A ENSG00000102796 ENST00000472372 Transcript intron_variant,non_coding_transcript_variant - - - - - rs371091134 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=DHRS12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25832;AF=0.0006;AFR_AF=0.0023;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=0.0001794;gnomAD_AFR_AF=0.002407;gnomAD_AMR_AF=5.795e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=1.764e-05;gnomAD_OTH_AF=0.0001636;gnomAD_SAS_AF=3.268e-05 rs371091134 13:51771930 A ENSG00000102796 ENST00000489680 Transcript intron_variant,non_coding_transcript_variant - - - - - rs371091134 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=DHRS12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25832;AF=0.0006;AFR_AF=0.0023;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=0.0001794;gnomAD_AFR_AF=0.002407;gnomAD_AMR_AF=5.795e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=1.764e-05;gnomAD_OTH_AF=0.0001636;gnomAD_SAS_AF=3.268e-05 rs371091134 13:51771930 A ENSG00000102796 ENST00000490949 Transcript intron_variant,non_coding_transcript_variant - - - - - rs371091134 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=DHRS12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25832;AF=0.0006;AFR_AF=0.0023;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=0.0001794;gnomAD_AFR_AF=0.002407;gnomAD_AMR_AF=5.795e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=1.764e-05;gnomAD_OTH_AF=0.0001636;gnomAD_SAS_AF=3.268e-05 rs371091134 13:51771930 A ENSG00000285444 ENST00000642706 Transcript intron_variant,NMD_transcript_variant - - - - - rs371091134 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;AF=0.0006;AFR_AF=0.0023;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=0.0001794;gnomAD_AFR_AF=0.002407;gnomAD_AMR_AF=5.795e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=1.764e-05;gnomAD_OTH_AF=0.0001636;gnomAD_SAS_AF=3.268e-05 rs371091134 13:51771930 A ENSG00000102796 ENST00000650833 Transcript intron_variant,NMD_transcript_variant - - - - - rs371091134 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=DHRS12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25832;AF=0.0006;AFR_AF=0.0023;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=0.0001794;gnomAD_AFR_AF=0.002407;gnomAD_AMR_AF=5.795e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=1.764e-05;gnomAD_OTH_AF=0.0001636;gnomAD_SAS_AF=3.268e-05 rs371091134 13:51771930 A ENSG00000102796 ENST00000682342 Transcript intron_variant,NMD_transcript_variant - - - - - rs371091134 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=DHRS12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25832;AF=0.0006;AFR_AF=0.0023;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=0.0001794;gnomAD_AFR_AF=0.002407;gnomAD_AMR_AF=5.795e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=1.764e-05;gnomAD_OTH_AF=0.0001636;gnomAD_SAS_AF=3.268e-05 rs544450308 13:51777210 T ENSG00000102796 ENST00000218981 Transcript intron_variant - - - - - rs544450308 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=DHRS12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25832;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs544450308 13:51777210 T ENSG00000102796 ENST00000280056 Transcript intron_variant - - - - - rs544450308 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=DHRS12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25832;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs544450308 13:51777210 T ENSG00000102796 ENST00000444610 Transcript intron_variant - - - - - rs544450308 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=DHRS12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25832;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs544450308 13:51777210 T ENSG00000102796 ENST00000461948 Transcript intron_variant - - - - - rs544450308 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;FLAGS=cds_start_NF;SYMBOL=DHRS12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25832;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs544450308 13:51777210 T ENSG00000102796 ENST00000469957 Transcript upstream_gene_variant - - - - - rs544450308 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=3086;STRAND=-1;SYMBOL=DHRS12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25832;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs544450308 13:51777210 T ENSG00000102796 ENST00000472372 Transcript intron_variant,non_coding_transcript_variant - - - - - rs544450308 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=DHRS12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25832;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs544450308 13:51777210 T ENSG00000102796 ENST00000489680 Transcript intron_variant,non_coding_transcript_variant - - - - - rs544450308 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=DHRS12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25832;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs544450308 13:51777210 T ENSG00000102796 ENST00000490949 Transcript intron_variant,non_coding_transcript_variant - - - - - rs544450308 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=DHRS12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25832;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs544450308 13:51777210 T ENSG00000285444 ENST00000642706 Transcript intron_variant,NMD_transcript_variant - - - - - rs544450308 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs544450308 13:51777210 T ENSG00000102796 ENST00000650833 Transcript intron_variant,NMD_transcript_variant - - - - - rs544450308 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=DHRS12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25832;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs544450308 13:51777210 T ENSG00000102796 ENST00000682342 Transcript intron_variant,NMD_transcript_variant - - - - - rs544450308 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=DHRS12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25832;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs147650200 13:51789757 T ENSG00000102796 ENST00000218981 Transcript intron_variant - - - - - rs147650200 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=DHRS12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25832;AF=0.0018;AFR_AF=0;AMR_AF=0;EAS_AF=0.0089;EUR_AF=0;SAS_AF=0 rs147650200 13:51789757 T ENSG00000102796 ENST00000280056 Transcript intron_variant - - - - - rs147650200 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=DHRS12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25832;AF=0.0018;AFR_AF=0;AMR_AF=0;EAS_AF=0.0089;EUR_AF=0;SAS_AF=0 rs147650200 13:51789757 T ENSG00000102796 ENST00000444610 Transcript intron_variant - - - - - rs147650200 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=DHRS12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25832;AF=0.0018;AFR_AF=0;AMR_AF=0;EAS_AF=0.0089;EUR_AF=0;SAS_AF=0 rs147650200 13:51789757 T ENSG00000102796 ENST00000461948 Transcript intron_variant - - - - - rs147650200 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;FLAGS=cds_start_NF;SYMBOL=DHRS12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25832;AF=0.0018;AFR_AF=0;AMR_AF=0;EAS_AF=0.0089;EUR_AF=0;SAS_AF=0 rs147650200 13:51789757 T ENSG00000102796 ENST00000489680 Transcript intron_variant,non_coding_transcript_variant - - - - - rs147650200 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=DHRS12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25832;AF=0.0018;AFR_AF=0;AMR_AF=0;EAS_AF=0.0089;EUR_AF=0;SAS_AF=0 rs147650200 13:51789757 T ENSG00000102796 ENST00000490949 Transcript intron_variant,non_coding_transcript_variant - - - - - rs147650200 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=DHRS12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25832;AF=0.0018;AFR_AF=0;AMR_AF=0;EAS_AF=0.0089;EUR_AF=0;SAS_AF=0 rs147650200 13:51789757 T ENSG00000102796 ENST00000497151 Transcript downstream_gene_variant - - - - - rs147650200 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=266;STRAND=-1;SYMBOL=DHRS12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25832;AF=0.0018;AFR_AF=0;AMR_AF=0;EAS_AF=0.0089;EUR_AF=0;SAS_AF=0 rs147650200 13:51789757 T ENSG00000285444 ENST00000642706 Transcript intron_variant,NMD_transcript_variant - - - - - rs147650200 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;AF=0.0018;AFR_AF=0;AMR_AF=0;EAS_AF=0.0089;EUR_AF=0;SAS_AF=0 rs147650200 13:51789757 T ENSG00000102796 ENST00000650833 Transcript intron_variant,NMD_transcript_variant - - - - - rs147650200 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=DHRS12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25832;AF=0.0018;AFR_AF=0;AMR_AF=0;EAS_AF=0.0089;EUR_AF=0;SAS_AF=0 rs147650200 13:51789757 T ENSG00000102796 ENST00000682342 Transcript intron_variant,NMD_transcript_variant - - - - - rs147650200 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=DHRS12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25832;AF=0.0018;AFR_AF=0;AMR_AF=0;EAS_AF=0.0089;EUR_AF=0;SAS_AF=0 rs559617918 13:51796128 A ENSG00000102796 ENST00000218981 Transcript intron_variant - - - - - rs559617918 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=DHRS12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25832;AF=0.0004;AFR_AF=0.0015;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs559617918 13:51796128 A ENSG00000102796 ENST00000280056 Transcript intron_variant - - - - - rs559617918 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=DHRS12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25832;AF=0.0004;AFR_AF=0.0015;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs559617918 13:51796128 A ENSG00000102796 ENST00000444610 Transcript intron_variant - - - - - rs559617918 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=DHRS12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25832;AF=0.0004;AFR_AF=0.0015;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs559617918 13:51796128 A ENSG00000102796 ENST00000490949 Transcript intron_variant,non_coding_transcript_variant - - - - - rs559617918 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=DHRS12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25832;AF=0.0004;AFR_AF=0.0015;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs559617918 13:51796128 A ENSG00000102796 ENST00000497151 Transcript intron_variant,non_coding_transcript_variant - - - - - rs559617918 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=DHRS12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25832;AF=0.0004;AFR_AF=0.0015;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs559617918 13:51796128 A ENSG00000285444 ENST00000642706 Transcript intron_variant,NMD_transcript_variant - - - - - rs559617918 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;AF=0.0004;AFR_AF=0.0015;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs559617918 13:51796128 A ENSG00000102796 ENST00000650833 Transcript intron_variant,NMD_transcript_variant - - - - - rs559617918 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=DHRS12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25832;AF=0.0004;AFR_AF=0.0015;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs559617918 13:51796128 A ENSG00000102796 ENST00000682342 Transcript intron_variant,NMD_transcript_variant - - - - - rs559617918 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=DHRS12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25832;AF=0.0004;AFR_AF=0.0015;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs140317344 13:51796777 A ENSG00000102796 ENST00000218981 Transcript intron_variant - - - - - rs140317344 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=DHRS12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25832;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs140317344 13:51796777 A ENSG00000102796 ENST00000280056 Transcript intron_variant - - - - - rs140317344 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=DHRS12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25832;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs140317344 13:51796777 A ENSG00000102796 ENST00000444610 Transcript intron_variant - - - - - rs140317344 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=DHRS12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25832;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs140317344 13:51796777 A ENSG00000102796 ENST00000490949 Transcript intron_variant,non_coding_transcript_variant - - - - - rs140317344 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=DHRS12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25832;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs140317344 13:51796777 A ENSG00000102796 ENST00000497151 Transcript intron_variant,non_coding_transcript_variant - - - - - rs140317344 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=DHRS12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25832;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs140317344 13:51796777 A ENSG00000285444 ENST00000642706 Transcript intron_variant,NMD_transcript_variant - - - - - rs140317344 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs140317344 13:51796777 A ENSG00000102796 ENST00000650833 Transcript intron_variant,NMD_transcript_variant - - - - - rs140317344 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=DHRS12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25832;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs140317344 13:51796777 A ENSG00000102796 ENST00000682342 Transcript intron_variant,NMD_transcript_variant - - - - - rs140317344 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=DHRS12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25832;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs566742020 13:51798295 C ENSG00000102796 ENST00000218981 Transcript intron_variant - - - - - rs566742020 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=DHRS12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25832;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs566742020 13:51798295 C ENSG00000102796 ENST00000280056 Transcript intron_variant - - - - - rs566742020 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=DHRS12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25832;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs566742020 13:51798295 C ENSG00000102796 ENST00000444610 Transcript intron_variant - - - - - rs566742020 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=DHRS12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25832;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs566742020 13:51798295 C ENSG00000102796 ENST00000490949 Transcript intron_variant,non_coding_transcript_variant - - - - - rs566742020 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=DHRS12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25832;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs566742020 13:51798295 C ENSG00000102796 ENST00000497151 Transcript intron_variant,non_coding_transcript_variant - - - - - rs566742020 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=DHRS12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25832;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs566742020 13:51798295 C ENSG00000285444 ENST00000642706 Transcript intron_variant,NMD_transcript_variant - - - - - rs566742020 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs566742020 13:51798295 C ENSG00000102796 ENST00000650833 Transcript intron_variant,NMD_transcript_variant - - - - - rs566742020 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=DHRS12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25832;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs566742020 13:51798295 C ENSG00000102796 ENST00000682342 Transcript intron_variant,NMD_transcript_variant - - - - - rs566742020 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=DHRS12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25832;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs145779371 13:51807243 G ENSG00000102796 ENST00000218981 Transcript upstream_gene_variant - - - - - rs145779371 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=3086;STRAND=-1;SYMBOL=DHRS12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25832;AF=0.0014;AFR_AF=0.0045;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs145779371 13:51807243 G ENSG00000102796 ENST00000280056 Transcript upstream_gene_variant - - - - - rs145779371 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=3145;STRAND=-1;SYMBOL=DHRS12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25832;AF=0.0014;AFR_AF=0.0045;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs145779371 13:51807243 G ENSG00000102796 ENST00000444610 Transcript upstream_gene_variant - - - - - rs145779371 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=3080;STRAND=-1;SYMBOL=DHRS12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25832;AF=0.0014;AFR_AF=0.0045;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs145779371 13:51807243 G ENSG00000231856 ENST00000456688 Transcript intron_variant,non_coding_transcript_variant - - - - - rs145779371 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;AF=0.0014;AFR_AF=0.0045;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs145779371 13:51807243 G ENSG00000102796 ENST00000490949 Transcript upstream_gene_variant - - - - - rs145779371 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=3086;STRAND=-1;SYMBOL=DHRS12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25832;AF=0.0014;AFR_AF=0.0045;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs145779371 13:51807243 G ENSG00000102796 ENST00000497151 Transcript upstream_gene_variant - - - - - rs145779371 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=3520;STRAND=-1;SYMBOL=DHRS12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25832;AF=0.0014;AFR_AF=0.0045;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs145779371 13:51807243 G ENSG00000231856 ENST00000618844 Transcript downstream_gene_variant - - - - - rs145779371 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=1613;STRAND=1;AF=0.0014;AFR_AF=0.0045;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs145779371 13:51807243 G ENSG00000285444 ENST00000642706 Transcript intron_variant,NMD_transcript_variant - - - - - rs145779371 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;AF=0.0014;AFR_AF=0.0045;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs145779371 13:51807243 G ENSG00000102796 ENST00000650833 Transcript upstream_gene_variant - - - - - rs145779371 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=3120;STRAND=-1;SYMBOL=DHRS12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25832;AF=0.0014;AFR_AF=0.0045;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs145779371 13:51807243 G ENSG00000102796 ENST00000682342 Transcript upstream_gene_variant - - - - - rs145779371 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=3081;STRAND=-1;SYMBOL=DHRS12;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25832;AF=0.0014;AFR_AF=0.0045;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs145779371 13:51807243 G ENSG00000231856 ENST00000687602 Transcript downstream_gene_variant - - - - - rs145779371 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=1615;STRAND=1;AF=0.0014;AFR_AF=0.0045;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs145779371 13:51807243 G ENSG00000231856 ENST00000691400 Transcript downstream_gene_variant - - - - - rs145779371 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=1615;STRAND=1;AF=0.0014;AFR_AF=0.0045;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs55649476 13:51818137 C ENSG00000231856 ENST00000456688 Transcript downstream_gene_variant - - - - - rs55649476 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=4305;STRAND=1;AF=0.0507;AFR_AF=0.0015;AMR_AF=0.1009;EAS_AF=0.0218;EUR_AF=0.0358;SAS_AF=0.1268 rs55649476 13:51818137 C ENSG00000281106 ENST00000626362 Transcript intron_variant - - - - - rs55649476 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=TMEM272;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26737;AF=0.0507;AFR_AF=0.0015;AMR_AF=0.1009;EAS_AF=0.0218;EUR_AF=0.0358;SAS_AF=0.1268 rs55649476 13:51818137 C ENSG00000281106 ENST00000627246 Transcript intron_variant - - - - - rs55649476 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=TMEM272;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26737;AF=0.0507;AFR_AF=0.0015;AMR_AF=0.1009;EAS_AF=0.0218;EUR_AF=0.0358;SAS_AF=0.1268 rs55649476 13:51818137 C ENSG00000281106 ENST00000629372 Transcript intron_variant - - - - - rs55649476 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=TMEM272;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26737;AF=0.0507;AFR_AF=0.0015;AMR_AF=0.1009;EAS_AF=0.0218;EUR_AF=0.0358;SAS_AF=0.1268 rs55649476 13:51818137 C ENSG00000285444 ENST00000642706 Transcript intron_variant,NMD_transcript_variant - - - - - rs55649476 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;AF=0.0507;AFR_AF=0.0015;AMR_AF=0.1009;EAS_AF=0.0218;EUR_AF=0.0358;SAS_AF=0.1268 rs17075988 13:51834599 A ENSG00000281106 ENST00000626362 Transcript intron_variant - - - - - rs17075988 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=TMEM272;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26737;AF=0.0489;AFR_AF=0.0605;AMR_AF=0.0764;EAS_AF=0;EUR_AF=0.0358;SAS_AF=0.0777 rs17075988 13:51834599 A ENSG00000281106 ENST00000627246 Transcript intron_variant - - - - - rs17075988 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=TMEM272;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26737;AF=0.0489;AFR_AF=0.0605;AMR_AF=0.0764;EAS_AF=0;EUR_AF=0.0358;SAS_AF=0.0777 rs17075988 13:51834599 A ENSG00000281106 ENST00000629372 Transcript intron_variant - - - - - rs17075988 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=TMEM272;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26737;AF=0.0489;AFR_AF=0.0605;AMR_AF=0.0764;EAS_AF=0;EUR_AF=0.0358;SAS_AF=0.0777 rs17075988 13:51834599 A ENSG00000285444 ENST00000642706 Transcript intron_variant,NMD_transcript_variant - - - - - rs17075988 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;AF=0.0489;AFR_AF=0.0605;AMR_AF=0.0764;EAS_AF=0;EUR_AF=0.0358;SAS_AF=0.0777 rs368142304 15:74749260 A ENSG00000140505 ENST00000343932 Transcript intron_variant - - - - - rs368142304 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=CYP1A2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2596;AF=0.0008;AFR_AF=0;AMR_AF=0;EAS_AF=0.004;EUR_AF=0;SAS_AF=0 rs41279194 15:74749678 G ENSG00000140505 ENST00000343932 Transcript intron_variant - - - - - rs41279194 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=CYP1A2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2596;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs369511887 15:74750297 A ENSG00000140505 ENST00000343932 Transcript missense_variant 621 559 187 D/N Gac/Aac rs369511887 IND=P3;ZYG=HOM;IMPACT=MODERATE;STRAND=1;SYMBOL=CYP1A2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2596;SIFT=tolerated(0.14);PolyPhen=benign(0.117);AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0;gnomAD_AF=0.0001988;gnomAD_AFR_AF=6.152e-05;gnomAD_AMR_AF=0.0004337;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0.0001631;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0.0002637;gnomAD_OTH_AF=0.0001629;gnomAD_SAS_AF=0 rs45540640 15:74750351 G ENSG00000140505 ENST00000343932 Transcript missense_variant 675 613 205 F/V Ttc/Gtc rs45540640 IND=P1;ZYG=HOM;IMPACT=MODERATE;STRAND=1;SYMBOL=CYP1A2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2596;SIFT=deleterious(0);PolyPhen=probably_damaging(1);AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=0.0002903;gnomAD_AFR_AF=0.004122;gnomAD_AMR_AF=0.0001735;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs539316577 15:74750377 T ENSG00000140505 ENST00000343932 Transcript synonymous_variant 701 639 213 S agC/agT rs539316577 IND=P1;ZYG=HET;IMPACT=LOW;STRAND=1;SYMBOL=CYP1A2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2596;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001;gnomAD_AF=2.386e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0.0001087;gnomAD_FIN_AF=0;gnomAD_NFE_AF=8.79e-06;gnomAD_OTH_AF=0;gnomAD_SAS_AF=9.799e-05 rs539316577 15:74750377 T ENSG00000140505 ENST00000343932 Transcript synonymous_variant 701 639 213 S agC/agT rs539316577 IND=P3;ZYG=HOM;IMPACT=LOW;STRAND=1;SYMBOL=CYP1A2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2596;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001;gnomAD_AF=2.386e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0.0001087;gnomAD_FIN_AF=0;gnomAD_NFE_AF=8.79e-06;gnomAD_OTH_AF=0;gnomAD_SAS_AF=9.799e-05 rs201537008 15:74750435 A ENSG00000140505 ENST00000343932 Transcript missense_variant 759 697 233 G/R Ggg/Agg rs201537008,COSV59659008 IND=P2;ZYG=HOM;IMPACT=MODERATE;STRAND=1;SYMBOL=CYP1A2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2596;SIFT=deleterious(0);PolyPhen=probably_damaging(0.996);AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0;gnomAD_AF=3.181e-05;gnomAD_AFR_AF=0.0002461;gnomAD_AMR_AF=5.782e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=8.791e-06;gnomAD_OTH_AF=0;gnomAD_SAS_AF=3.266e-05;SOMATIC=0,1;PHENO=0,1 rs572622349 15:74751052 G ENSG00000140505 ENST00000343932 Transcript intron_variant - - - - - rs572622349 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=CYP1A2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2596;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs576229861 15:74751092 C ENSG00000140505 ENST00000343932 Transcript intron_variant - - - - - rs576229861 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=CYP1A2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2596;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs185915507 15:74751615 A ENSG00000140505 ENST00000343932 Transcript intron_variant - - - - - rs185915507 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=CYP1A2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2596;AF=0.0032;AFR_AF=0.0121;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs540758077 15:74752353 C ENSG00000140505 ENST00000343932 Transcript intron_variant - - - - - rs540758077 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=CYP1A2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2596;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs557351047 15:74752846 A ENSG00000140505 ENST00000343932 Transcript intron_variant - - - - - rs557351047 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=CYP1A2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2596;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs191189487 15:74753462 A ENSG00000140505 ENST00000343932 Transcript intron_variant - - - - - rs191189487 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=CYP1A2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2596;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs34151816 15:74754906 T ENSG00000140505 ENST00000343932 Transcript missense_variant 1431 1369 457 R/W Cgg/Tgg rs34151816 IND=P3;ZYG=HET;IMPACT=MODERATE;STRAND=1;SYMBOL=CYP1A2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2596;SIFT=deleterious(0);PolyPhen=probably_damaging(0.948);AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=1.59e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=2.891e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=9.799e-05 rs180740697 15:74756028 A ENSG00000140505 ENST00000343932 Transcript 3_prime_UTR_variant 2553 - - - - rs180740697 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=CYP1A2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2596;AF=0.0008;AFR_AF=0;AMR_AF=0.0058;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs186973942 16:3298826 T ENSG00000140993 ENST00000396862 Transcript 3_prime_UTR_variant 3403 - - - - rs186973942 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=TIGD7;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18331;AF=0.0004;AFR_AF=0;AMR_AF=0.0029;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs186973942 16:3298826 T ENSG00000140993 ENST00000570634 Transcript downstream_gene_variant - - - - - rs186973942 IND=P1;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=2821;STRAND=-1;SYMBOL=TIGD7;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18331;AF=0.0004;AFR_AF=0;AMR_AF=0.0029;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs186973942 16:3298826 T ENSG00000140993 ENST00000571748 Transcript downstream_gene_variant - - - - - rs186973942 IND=P1;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=3037;STRAND=-1;SYMBOL=TIGD7;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18331;AF=0.0004;AFR_AF=0;AMR_AF=0.0029;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs186973942 16:3298826 T ENSG00000140993 ENST00000572297 Transcript downstream_gene_variant - - - - - rs186973942 IND=P1;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=2668;STRAND=-1;SYMBOL=TIGD7;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18331;AF=0.0004;AFR_AF=0;AMR_AF=0.0029;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs186973942 16:3298826 T ENSG00000140993 ENST00000573608 Transcript downstream_gene_variant - - - - - rs186973942 IND=P1;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=1441;STRAND=-1;FLAGS=cds_end_NF;SYMBOL=TIGD7;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18331;AF=0.0004;AFR_AF=0;AMR_AF=0.0029;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs186973942 16:3298826 T ENSG00000140993 ENST00000573695 Transcript downstream_gene_variant - - - - - rs186973942 IND=P1;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=2853;STRAND=-1;SYMBOL=TIGD7;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18331;AF=0.0004;AFR_AF=0;AMR_AF=0.0029;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs186973942 16:3298826 T ENSG00000140993 ENST00000574598 Transcript downstream_gene_variant - - - - - rs186973942 IND=P1;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=2497;STRAND=-1;SYMBOL=TIGD7;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18331;AF=0.0004;AFR_AF=0;AMR_AF=0.0029;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs186973942 16:3298826 T ENSG00000006194 ENST00000574674 Transcript intron_variant - - - - - rs186973942 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_start_NF;SYMBOL=ZNF263;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13056;AF=0.0004;AFR_AF=0;AMR_AF=0.0029;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs186973942 16:3298826 T ENSG00000006194 ENST00000575332 Transcript intron_variant - - - - - rs186973942 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_start_NF;SYMBOL=ZNF263;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13056;AF=0.0004;AFR_AF=0;AMR_AF=0.0029;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs186973942 16:3298826 T ENSG00000140993 ENST00000576104 Transcript downstream_gene_variant - - - - - rs186973942 IND=P1;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=3016;STRAND=-1;SYMBOL=TIGD7;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18331;AF=0.0004;AFR_AF=0;AMR_AF=0.0029;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs143297362 16:3299115 A ENSG00000140993 ENST00000396862 Transcript synonymous_variant 3114 1500 500 F ttC/ttT rs143297362 IND=P2;ZYG=HET;IMPACT=LOW;STRAND=-1;SYMBOL=TIGD7;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18331;AF=0.0006;AFR_AF=0.0023;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=0.0001494;gnomAD_AFR_AF=0.00149;gnomAD_AMR_AF=7.565e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=3.91e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs143297362 16:3299115 A ENSG00000140993 ENST00000570634 Transcript downstream_gene_variant - - - - - rs143297362 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2532;STRAND=-1;SYMBOL=TIGD7;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18331;AF=0.0006;AFR_AF=0.0023;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=0.0001494;gnomAD_AFR_AF=0.00149;gnomAD_AMR_AF=7.565e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=3.91e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs143297362 16:3299115 A ENSG00000140993 ENST00000571748 Transcript downstream_gene_variant - - - - - rs143297362 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2748;STRAND=-1;SYMBOL=TIGD7;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18331;AF=0.0006;AFR_AF=0.0023;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=0.0001494;gnomAD_AFR_AF=0.00149;gnomAD_AMR_AF=7.565e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=3.91e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs143297362 16:3299115 A ENSG00000140993 ENST00000572297 Transcript downstream_gene_variant - - - - - rs143297362 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2379;STRAND=-1;SYMBOL=TIGD7;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18331;AF=0.0006;AFR_AF=0.0023;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=0.0001494;gnomAD_AFR_AF=0.00149;gnomAD_AMR_AF=7.565e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=3.91e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs143297362 16:3299115 A ENSG00000140993 ENST00000573608 Transcript downstream_gene_variant - - - - - rs143297362 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1152;STRAND=-1;FLAGS=cds_end_NF;SYMBOL=TIGD7;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18331;AF=0.0006;AFR_AF=0.0023;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=0.0001494;gnomAD_AFR_AF=0.00149;gnomAD_AMR_AF=7.565e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=3.91e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs143297362 16:3299115 A ENSG00000140993 ENST00000573695 Transcript downstream_gene_variant - - - - - rs143297362 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2564;STRAND=-1;SYMBOL=TIGD7;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18331;AF=0.0006;AFR_AF=0.0023;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=0.0001494;gnomAD_AFR_AF=0.00149;gnomAD_AMR_AF=7.565e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=3.91e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs143297362 16:3299115 A ENSG00000140993 ENST00000574598 Transcript downstream_gene_variant - - - - - rs143297362 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2208;STRAND=-1;SYMBOL=TIGD7;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18331;AF=0.0006;AFR_AF=0.0023;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=0.0001494;gnomAD_AFR_AF=0.00149;gnomAD_AMR_AF=7.565e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=3.91e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs143297362 16:3299115 A ENSG00000006194 ENST00000574674 Transcript 3_prime_UTR_variant 161 - - - - rs143297362 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_start_NF;SYMBOL=ZNF263;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13056;AF=0.0006;AFR_AF=0.0023;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=0.0001494;gnomAD_AFR_AF=0.00149;gnomAD_AMR_AF=7.565e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=3.91e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs143297362 16:3299115 A ENSG00000006194 ENST00000575332 Transcript 3_prime_UTR_variant 352 - - - - rs143297362 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_start_NF;SYMBOL=ZNF263;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13056;AF=0.0006;AFR_AF=0.0023;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=0.0001494;gnomAD_AFR_AF=0.00149;gnomAD_AMR_AF=7.565e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=3.91e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs143297362 16:3299115 A ENSG00000140993 ENST00000576104 Transcript downstream_gene_variant - - - - - rs143297362 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2727;STRAND=-1;SYMBOL=TIGD7;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18331;AF=0.0006;AFR_AF=0.0023;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=0.0001494;gnomAD_AFR_AF=0.00149;gnomAD_AMR_AF=7.565e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=3.91e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs562944022 16:3299887 T ENSG00000140993 ENST00000396862 Transcript missense_variant 2342 728 243 S/N aGt/aAt rs562944022 IND=P3;ZYG=HET;IMPACT=MODERATE;STRAND=-1;SYMBOL=TIGD7;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18331;SIFT=tolerated(0.53);PolyPhen=benign(0);AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001;gnomAD_AF=9.416e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0.0007909 rs562944022 16:3299887 T ENSG00000140993 ENST00000570634 Transcript downstream_gene_variant - - - - - rs562944022 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1760;STRAND=-1;SYMBOL=TIGD7;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18331;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001;gnomAD_AF=9.416e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0.0007909 rs562944022 16:3299887 T ENSG00000140993 ENST00000571748 Transcript downstream_gene_variant - - - - - rs562944022 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1976;STRAND=-1;SYMBOL=TIGD7;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18331;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001;gnomAD_AF=9.416e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0.0007909 rs562944022 16:3299887 T ENSG00000140993 ENST00000572297 Transcript downstream_gene_variant - - - - - rs562944022 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1607;STRAND=-1;SYMBOL=TIGD7;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18331;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001;gnomAD_AF=9.416e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0.0007909 rs562944022 16:3299887 T ENSG00000140993 ENST00000573608 Transcript downstream_gene_variant - - - - - rs562944022 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=380;STRAND=-1;FLAGS=cds_end_NF;SYMBOL=TIGD7;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18331;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001;gnomAD_AF=9.416e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0.0007909 rs562944022 16:3299887 T ENSG00000140993 ENST00000573695 Transcript downstream_gene_variant - - - - - rs562944022 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1792;STRAND=-1;SYMBOL=TIGD7;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18331;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001;gnomAD_AF=9.416e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0.0007909 rs562944022 16:3299887 T ENSG00000140993 ENST00000574598 Transcript downstream_gene_variant - - - - - rs562944022 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1436;STRAND=-1;SYMBOL=TIGD7;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18331;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001;gnomAD_AF=9.416e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0.0007909 rs562944022 16:3299887 T ENSG00000006194 ENST00000574674 Transcript intron_variant - - - - - rs562944022 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_start_NF;SYMBOL=ZNF263;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13056;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001;gnomAD_AF=9.416e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0.0007909 rs562944022 16:3299887 T ENSG00000006194 ENST00000575332 Transcript 3_prime_UTR_variant 1124 - - - - rs562944022 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_start_NF;SYMBOL=ZNF263;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13056;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001;gnomAD_AF=9.416e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0.0007909 rs562944022 16:3299887 T ENSG00000140993 ENST00000576104 Transcript downstream_gene_variant - - - - - rs562944022 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1955;STRAND=-1;SYMBOL=TIGD7;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18331;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001;gnomAD_AF=9.416e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0.0007909 rs573253724 16:3300281 A ENSG00000140993 ENST00000396862 Transcript missense_variant 1948 334 112 R/W Cgg/Tgg rs573253724 IND=P1;ZYG=HOM;IMPACT=MODERATE;STRAND=-1;SYMBOL=TIGD7;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18331;SIFT=deleterious(0);PolyPhen=benign(0);AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0;gnomAD_AF=5.567e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0.0003181;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0.0001631;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs573253724 16:3300281 A ENSG00000140993 ENST00000570634 Transcript downstream_gene_variant - - - - - rs573253724 IND=P1;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=1366;STRAND=-1;SYMBOL=TIGD7;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18331;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0;gnomAD_AF=5.567e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0.0003181;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0.0001631;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs573253724 16:3300281 A ENSG00000140993 ENST00000571748 Transcript downstream_gene_variant - - - - - rs573253724 IND=P1;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=1582;STRAND=-1;SYMBOL=TIGD7;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18331;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0;gnomAD_AF=5.567e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0.0003181;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0.0001631;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs573253724 16:3300281 A ENSG00000140993 ENST00000572297 Transcript downstream_gene_variant - - - - - rs573253724 IND=P1;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=1213;STRAND=-1;SYMBOL=TIGD7;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18331;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0;gnomAD_AF=5.567e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0.0003181;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0.0001631;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs573253724 16:3300281 A ENSG00000140993 ENST00000573608 Transcript missense_variant 541 334 112 R/W Cgg/Tgg rs573253724 IND=P1;ZYG=HOM;IMPACT=MODERATE;STRAND=-1;FLAGS=cds_end_NF;SYMBOL=TIGD7;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18331;SIFT=deleterious(0);PolyPhen=benign(0);AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0;gnomAD_AF=5.567e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0.0003181;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0.0001631;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs573253724 16:3300281 A ENSG00000140993 ENST00000573695 Transcript downstream_gene_variant - - - - - rs573253724 IND=P1;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=1398;STRAND=-1;SYMBOL=TIGD7;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18331;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0;gnomAD_AF=5.567e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0.0003181;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0.0001631;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs573253724 16:3300281 A ENSG00000140993 ENST00000574598 Transcript downstream_gene_variant - - - - - rs573253724 IND=P1;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=1042;STRAND=-1;SYMBOL=TIGD7;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18331;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0;gnomAD_AF=5.567e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0.0003181;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0.0001631;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs573253724 16:3300281 A ENSG00000006194 ENST00000574674 Transcript intron_variant - - - - - rs573253724 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_start_NF;SYMBOL=ZNF263;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13056;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0;gnomAD_AF=5.567e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0.0003181;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0.0001631;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs573253724 16:3300281 A ENSG00000006194 ENST00000575332 Transcript 3_prime_UTR_variant 1518 - - - - rs573253724 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_start_NF;SYMBOL=ZNF263;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13056;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0;gnomAD_AF=5.567e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0.0003181;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0.0001631;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs573253724 16:3300281 A ENSG00000140993 ENST00000576104 Transcript downstream_gene_variant - - - - - rs573253724 IND=P1;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=1561;STRAND=-1;SYMBOL=TIGD7;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18331;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0;gnomAD_AF=5.567e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0.0003181;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0.0001631;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs573253724 16:3300281 A ENSG00000140993 ENST00000396862 Transcript missense_variant 1948 334 112 R/W Cgg/Tgg rs573253724 IND=P3;ZYG=HET;IMPACT=MODERATE;STRAND=-1;SYMBOL=TIGD7;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18331;SIFT=deleterious(0);PolyPhen=benign(0);AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0;gnomAD_AF=5.567e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0.0003181;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0.0001631;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs573253724 16:3300281 A ENSG00000140993 ENST00000570634 Transcript downstream_gene_variant - - - - - rs573253724 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1366;STRAND=-1;SYMBOL=TIGD7;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18331;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0;gnomAD_AF=5.567e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0.0003181;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0.0001631;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs573253724 16:3300281 A ENSG00000140993 ENST00000571748 Transcript downstream_gene_variant - - - - - rs573253724 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1582;STRAND=-1;SYMBOL=TIGD7;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18331;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0;gnomAD_AF=5.567e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0.0003181;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0.0001631;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs573253724 16:3300281 A ENSG00000140993 ENST00000572297 Transcript downstream_gene_variant - - - - - rs573253724 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1213;STRAND=-1;SYMBOL=TIGD7;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18331;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0;gnomAD_AF=5.567e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0.0003181;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0.0001631;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs573253724 16:3300281 A ENSG00000140993 ENST00000573608 Transcript missense_variant 541 334 112 R/W Cgg/Tgg rs573253724 IND=P3;ZYG=HET;IMPACT=MODERATE;STRAND=-1;FLAGS=cds_end_NF;SYMBOL=TIGD7;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18331;SIFT=deleterious(0);PolyPhen=benign(0);AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0;gnomAD_AF=5.567e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0.0003181;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0.0001631;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs573253724 16:3300281 A ENSG00000140993 ENST00000573695 Transcript downstream_gene_variant - - - - - rs573253724 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1398;STRAND=-1;SYMBOL=TIGD7;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18331;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0;gnomAD_AF=5.567e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0.0003181;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0.0001631;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs573253724 16:3300281 A ENSG00000140993 ENST00000574598 Transcript downstream_gene_variant - - - - - rs573253724 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1042;STRAND=-1;SYMBOL=TIGD7;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18331;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0;gnomAD_AF=5.567e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0.0003181;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0.0001631;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs573253724 16:3300281 A ENSG00000006194 ENST00000574674 Transcript intron_variant - - - - - rs573253724 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_start_NF;SYMBOL=ZNF263;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13056;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0;gnomAD_AF=5.567e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0.0003181;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0.0001631;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs573253724 16:3300281 A ENSG00000006194 ENST00000575332 Transcript 3_prime_UTR_variant 1518 - - - - rs573253724 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_start_NF;SYMBOL=ZNF263;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13056;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0;gnomAD_AF=5.567e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0.0003181;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0.0001631;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs573253724 16:3300281 A ENSG00000140993 ENST00000576104 Transcript downstream_gene_variant - - - - - rs573253724 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1561;STRAND=-1;SYMBOL=TIGD7;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18331;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0;gnomAD_AF=5.567e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0.0003181;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0.0001631;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs571155336 16:3301246 T ENSG00000140993 ENST00000396862 Transcript 5_prime_UTR_variant 983 - - - - rs571155336 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=TIGD7;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18331;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs571155336 16:3301246 T ENSG00000162086 ENST00000498240 Transcript upstream_gene_variant - - - - - rs571155336 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=4160;STRAND=1;SYMBOL=ZNF75A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13146;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs571155336 16:3301246 T ENSG00000140993 ENST00000570634 Transcript downstream_gene_variant - - - - - rs571155336 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=401;STRAND=-1;SYMBOL=TIGD7;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18331;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs571155336 16:3301246 T ENSG00000162086 ENST00000571101 Transcript upstream_gene_variant - - - - - rs571155336 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=4262;STRAND=1;SYMBOL=ZNF75A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13146;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs571155336 16:3301246 T ENSG00000140993 ENST00000571748 Transcript downstream_gene_variant - - - - - rs571155336 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=617;STRAND=-1;SYMBOL=TIGD7;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18331;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs571155336 16:3301246 T ENSG00000140993 ENST00000572297 Transcript downstream_gene_variant - - - - - rs571155336 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=248;STRAND=-1;SYMBOL=TIGD7;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18331;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs571155336 16:3301246 T ENSG00000140993 ENST00000573608 Transcript intron_variant - - - - - rs571155336 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;FLAGS=cds_end_NF;SYMBOL=TIGD7;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18331;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs571155336 16:3301246 T ENSG00000140993 ENST00000573695 Transcript downstream_gene_variant - - - - - rs571155336 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=433;STRAND=-1;SYMBOL=TIGD7;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18331;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs571155336 16:3301246 T ENSG00000162086 ENST00000574298 Transcript upstream_gene_variant - - - - - rs571155336 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=4226;STRAND=1;SYMBOL=ZNF75A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13146;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs571155336 16:3301246 T ENSG00000140993 ENST00000574598 Transcript downstream_gene_variant - - - - - rs571155336 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=77;STRAND=-1;SYMBOL=TIGD7;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18331;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs571155336 16:3301246 T ENSG00000006194 ENST00000574674 Transcript 3_prime_UTR_variant 536 - - - - rs571155336 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_start_NF;SYMBOL=ZNF263;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13056;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs571155336 16:3301246 T ENSG00000162086 ENST00000575234 Transcript upstream_gene_variant - - - - - rs571155336 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=4238;STRAND=1;SYMBOL=ZNF75A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13146;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs571155336 16:3301246 T ENSG00000006194 ENST00000575332 Transcript 3_prime_UTR_variant 2483 - - - - rs571155336 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_start_NF;SYMBOL=ZNF263;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13056;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs571155336 16:3301246 T ENSG00000140993 ENST00000576104 Transcript downstream_gene_variant - - - - - rs571155336 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=596;STRAND=-1;SYMBOL=TIGD7;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18331;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs571155336 16:3301246 T ENSG00000162086 ENST00000669516 Transcript upstream_gene_variant - - - - - rs571155336 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=4251;STRAND=1;SYMBOL=ZNF75A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13146;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs569509664 16:3301300 G ENSG00000140993 ENST00000396862 Transcript 5_prime_UTR_variant 929 - - - - rs569509664 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=TIGD7;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18331;AF=0.0008;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.0041 rs569509664 16:3301300 G ENSG00000162086 ENST00000498240 Transcript upstream_gene_variant - - - - - rs569509664 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=4106;STRAND=1;SYMBOL=ZNF75A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13146;AF=0.0008;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.0041 rs569509664 16:3301300 G ENSG00000140993 ENST00000570634 Transcript downstream_gene_variant - - - - - rs569509664 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=347;STRAND=-1;SYMBOL=TIGD7;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18331;AF=0.0008;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.0041 rs569509664 16:3301300 G ENSG00000162086 ENST00000571101 Transcript upstream_gene_variant - - - - - rs569509664 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=4208;STRAND=1;SYMBOL=ZNF75A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13146;AF=0.0008;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.0041 rs569509664 16:3301300 G ENSG00000140993 ENST00000571748 Transcript downstream_gene_variant - - - - - rs569509664 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=563;STRAND=-1;SYMBOL=TIGD7;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18331;AF=0.0008;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.0041 rs569509664 16:3301300 G ENSG00000140993 ENST00000572297 Transcript downstream_gene_variant - - - - - rs569509664 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=194;STRAND=-1;SYMBOL=TIGD7;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18331;AF=0.0008;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.0041 rs569509664 16:3301300 G ENSG00000140993 ENST00000573608 Transcript intron_variant - - - - - rs569509664 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;FLAGS=cds_end_NF;SYMBOL=TIGD7;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18331;AF=0.0008;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.0041 rs569509664 16:3301300 G ENSG00000140993 ENST00000573695 Transcript downstream_gene_variant - - - - - rs569509664 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=379;STRAND=-1;SYMBOL=TIGD7;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18331;AF=0.0008;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.0041 rs569509664 16:3301300 G ENSG00000162086 ENST00000574298 Transcript upstream_gene_variant - - - - - rs569509664 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=4172;STRAND=1;SYMBOL=ZNF75A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13146;AF=0.0008;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.0041 rs569509664 16:3301300 G ENSG00000140993 ENST00000574598 Transcript downstream_gene_variant - - - - - rs569509664 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=23;STRAND=-1;SYMBOL=TIGD7;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18331;AF=0.0008;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.0041 rs569509664 16:3301300 G ENSG00000006194 ENST00000574674 Transcript 3_prime_UTR_variant 590 - - - - rs569509664 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_start_NF;SYMBOL=ZNF263;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13056;AF=0.0008;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.0041 rs569509664 16:3301300 G ENSG00000162086 ENST00000575234 Transcript upstream_gene_variant - - - - - rs569509664 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=4184;STRAND=1;SYMBOL=ZNF75A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13146;AF=0.0008;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.0041 rs569509664 16:3301300 G ENSG00000006194 ENST00000575332 Transcript 3_prime_UTR_variant 2537 - - - - rs569509664 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_start_NF;SYMBOL=ZNF263;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13056;AF=0.0008;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.0041 rs569509664 16:3301300 G ENSG00000140993 ENST00000576104 Transcript downstream_gene_variant - - - - - rs569509664 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=542;STRAND=-1;SYMBOL=TIGD7;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18331;AF=0.0008;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.0041 rs569509664 16:3301300 G ENSG00000162086 ENST00000669516 Transcript upstream_gene_variant - - - - - rs569509664 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=4197;STRAND=1;SYMBOL=ZNF75A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13146;AF=0.0008;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.0041 rs61426507 16:3301387 C ENSG00000140993 ENST00000396862 Transcript 5_prime_UTR_variant 842 - - - - rs61426507 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=TIGD7;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18331;AF=0.0679;AFR_AF=0.2428;AMR_AF=0.0259;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs61426507 16:3301387 C ENSG00000162086 ENST00000498240 Transcript upstream_gene_variant - - - - - rs61426507 IND=P1;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=4019;STRAND=1;SYMBOL=ZNF75A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13146;AF=0.0679;AFR_AF=0.2428;AMR_AF=0.0259;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs61426507 16:3301387 C ENSG00000140993 ENST00000570634 Transcript downstream_gene_variant - - - - - rs61426507 IND=P1;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=260;STRAND=-1;SYMBOL=TIGD7;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18331;AF=0.0679;AFR_AF=0.2428;AMR_AF=0.0259;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs61426507 16:3301387 C ENSG00000162086 ENST00000571101 Transcript upstream_gene_variant - - - - - rs61426507 IND=P1;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=4121;STRAND=1;SYMBOL=ZNF75A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13146;AF=0.0679;AFR_AF=0.2428;AMR_AF=0.0259;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs61426507 16:3301387 C ENSG00000140993 ENST00000571748 Transcript downstream_gene_variant - - - - - rs61426507 IND=P1;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=476;STRAND=-1;SYMBOL=TIGD7;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18331;AF=0.0679;AFR_AF=0.2428;AMR_AF=0.0259;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs61426507 16:3301387 C ENSG00000140993 ENST00000572297 Transcript downstream_gene_variant - - - - - rs61426507 IND=P1;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=107;STRAND=-1;SYMBOL=TIGD7;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18331;AF=0.0679;AFR_AF=0.2428;AMR_AF=0.0259;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs61426507 16:3301387 C ENSG00000140993 ENST00000573608 Transcript intron_variant - - - - - rs61426507 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;FLAGS=cds_end_NF;SYMBOL=TIGD7;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18331;AF=0.0679;AFR_AF=0.2428;AMR_AF=0.0259;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs61426507 16:3301387 C ENSG00000140993 ENST00000573695 Transcript downstream_gene_variant - - - - - rs61426507 IND=P1;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=292;STRAND=-1;SYMBOL=TIGD7;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18331;AF=0.0679;AFR_AF=0.2428;AMR_AF=0.0259;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs61426507 16:3301387 C ENSG00000162086 ENST00000574298 Transcript upstream_gene_variant - - - - - rs61426507 IND=P1;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=4085;STRAND=1;SYMBOL=ZNF75A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13146;AF=0.0679;AFR_AF=0.2428;AMR_AF=0.0259;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs61426507 16:3301387 C ENSG00000140993 ENST00000574598 Transcript non_coding_transcript_exon_variant 737 - - - - rs61426507 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=TIGD7;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18331;AF=0.0679;AFR_AF=0.2428;AMR_AF=0.0259;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs61426507 16:3301387 C ENSG00000006194 ENST00000574674 Transcript 3_prime_UTR_variant 677 - - - - rs61426507 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_start_NF;SYMBOL=ZNF263;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13056;AF=0.0679;AFR_AF=0.2428;AMR_AF=0.0259;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs61426507 16:3301387 C ENSG00000162086 ENST00000575234 Transcript upstream_gene_variant - - - - - rs61426507 IND=P1;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=4097;STRAND=1;SYMBOL=ZNF75A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13146;AF=0.0679;AFR_AF=0.2428;AMR_AF=0.0259;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs61426507 16:3301387 C ENSG00000006194 ENST00000575332 Transcript 3_prime_UTR_variant 2624 - - - - rs61426507 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_start_NF;SYMBOL=ZNF263;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13056;AF=0.0679;AFR_AF=0.2428;AMR_AF=0.0259;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs61426507 16:3301387 C ENSG00000140993 ENST00000576104 Transcript downstream_gene_variant - - - - - rs61426507 IND=P1;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=455;STRAND=-1;SYMBOL=TIGD7;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18331;AF=0.0679;AFR_AF=0.2428;AMR_AF=0.0259;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs61426507 16:3301387 C ENSG00000162086 ENST00000669516 Transcript upstream_gene_variant - - - - - rs61426507 IND=P1;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=4110;STRAND=1;SYMBOL=ZNF75A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13146;AF=0.0679;AFR_AF=0.2428;AMR_AF=0.0259;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs559292743 16:3301441 T ENSG00000140993 ENST00000396862 Transcript 5_prime_UTR_variant 788 - - - - rs559292743 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=TIGD7;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18331;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs559292743 16:3301441 T ENSG00000162086 ENST00000498240 Transcript upstream_gene_variant - - - - - rs559292743 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=3965;STRAND=1;SYMBOL=ZNF75A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13146;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs559292743 16:3301441 T ENSG00000140993 ENST00000570634 Transcript downstream_gene_variant - - - - - rs559292743 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=206;STRAND=-1;SYMBOL=TIGD7;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18331;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs559292743 16:3301441 T ENSG00000162086 ENST00000571101 Transcript upstream_gene_variant - - - - - rs559292743 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=4067;STRAND=1;SYMBOL=ZNF75A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13146;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs559292743 16:3301441 T ENSG00000140993 ENST00000571748 Transcript downstream_gene_variant - - - - - rs559292743 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=422;STRAND=-1;SYMBOL=TIGD7;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18331;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs559292743 16:3301441 T ENSG00000140993 ENST00000572297 Transcript downstream_gene_variant - - - - - rs559292743 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=53;STRAND=-1;SYMBOL=TIGD7;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18331;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs559292743 16:3301441 T ENSG00000140993 ENST00000573608 Transcript intron_variant - - - - - rs559292743 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;FLAGS=cds_end_NF;SYMBOL=TIGD7;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18331;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs559292743 16:3301441 T ENSG00000140993 ENST00000573695 Transcript downstream_gene_variant - - - - - rs559292743 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=238;STRAND=-1;SYMBOL=TIGD7;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18331;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs559292743 16:3301441 T ENSG00000162086 ENST00000574298 Transcript upstream_gene_variant - - - - - rs559292743 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=4031;STRAND=1;SYMBOL=ZNF75A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13146;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs559292743 16:3301441 T ENSG00000140993 ENST00000574598 Transcript non_coding_transcript_exon_variant 683 - - - - rs559292743 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=TIGD7;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18331;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs559292743 16:3301441 T ENSG00000006194 ENST00000574674 Transcript downstream_gene_variant - - - - - rs559292743 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=40;STRAND=1;FLAGS=cds_start_NF;SYMBOL=ZNF263;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13056;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs559292743 16:3301441 T ENSG00000162086 ENST00000575234 Transcript upstream_gene_variant - - - - - rs559292743 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=4043;STRAND=1;SYMBOL=ZNF75A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13146;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs559292743 16:3301441 T ENSG00000006194 ENST00000575332 Transcript downstream_gene_variant - - - - - rs559292743 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=41;STRAND=1;FLAGS=cds_start_NF;SYMBOL=ZNF263;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13056;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs559292743 16:3301441 T ENSG00000140993 ENST00000576104 Transcript downstream_gene_variant - - - - - rs559292743 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=401;STRAND=-1;SYMBOL=TIGD7;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18331;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs559292743 16:3301441 T ENSG00000162086 ENST00000669516 Transcript upstream_gene_variant - - - - - rs559292743 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=4056;STRAND=1;SYMBOL=ZNF75A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13146;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs569680304 16:3302149 C ENSG00000140993 ENST00000396862 Transcript intron_variant - - - - - rs569680304 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=TIGD7;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18331;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs569680304 16:3302149 C ENSG00000162086 ENST00000498240 Transcript upstream_gene_variant - - - - - rs569680304 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=3257;STRAND=1;SYMBOL=ZNF75A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13146;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs569680304 16:3302149 C ENSG00000140993 ENST00000570634 Transcript intron_variant,non_coding_transcript_variant - - - - - rs569680304 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=TIGD7;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18331;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs569680304 16:3302149 C ENSG00000162086 ENST00000571101 Transcript upstream_gene_variant - - - - - rs569680304 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=3359;STRAND=1;SYMBOL=ZNF75A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13146;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs569680304 16:3302149 C ENSG00000140993 ENST00000571748 Transcript intron_variant,non_coding_transcript_variant - - - - - rs569680304 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=TIGD7;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18331;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs569680304 16:3302149 C ENSG00000140993 ENST00000572297 Transcript intron_variant,non_coding_transcript_variant - - - - - rs569680304 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=TIGD7;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18331;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs569680304 16:3302149 C ENSG00000140993 ENST00000573608 Transcript intron_variant - - - - - rs569680304 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;FLAGS=cds_end_NF;SYMBOL=TIGD7;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18331;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs569680304 16:3302149 C ENSG00000140993 ENST00000573695 Transcript intron_variant,non_coding_transcript_variant - - - - - rs569680304 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=TIGD7;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18331;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs569680304 16:3302149 C ENSG00000162086 ENST00000574298 Transcript upstream_gene_variant - - - - - rs569680304 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=3323;STRAND=1;SYMBOL=ZNF75A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13146;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs569680304 16:3302149 C ENSG00000140993 ENST00000574598 Transcript intron_variant,non_coding_transcript_variant - - - - - rs569680304 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=TIGD7;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18331;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs569680304 16:3302149 C ENSG00000006194 ENST00000574674 Transcript downstream_gene_variant - - - - - rs569680304 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=748;STRAND=1;FLAGS=cds_start_NF;SYMBOL=ZNF263;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13056;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs569680304 16:3302149 C ENSG00000162086 ENST00000575234 Transcript upstream_gene_variant - - - - - rs569680304 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=3335;STRAND=1;SYMBOL=ZNF75A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13146;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs569680304 16:3302149 C ENSG00000006194 ENST00000575332 Transcript downstream_gene_variant - - - - - rs569680304 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=749;STRAND=1;FLAGS=cds_start_NF;SYMBOL=ZNF263;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13056;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs569680304 16:3302149 C ENSG00000140993 ENST00000576104 Transcript intron_variant,non_coding_transcript_variant - - - - - rs569680304 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=TIGD7;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18331;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs569680304 16:3302149 C ENSG00000162086 ENST00000669516 Transcript upstream_gene_variant - - - - - rs569680304 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=3348;STRAND=1;SYMBOL=ZNF75A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13146;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs552690194 16:3305184 A ENSG00000140993 ENST00000396862 Transcript intron_variant - - - - - rs552690194 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=TIGD7;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18331;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs552690194 16:3305184 A ENSG00000162086 ENST00000498240 Transcript upstream_gene_variant - - - - - rs552690194 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=222;STRAND=1;SYMBOL=ZNF75A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13146;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs552690194 16:3305184 A ENSG00000140993 ENST00000570634 Transcript intron_variant,non_coding_transcript_variant - - - - - rs552690194 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=TIGD7;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18331;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs552690194 16:3305184 A ENSG00000162086 ENST00000571101 Transcript upstream_gene_variant - - - - - rs552690194 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=324;STRAND=1;SYMBOL=ZNF75A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13146;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs552690194 16:3305184 A ENSG00000140993 ENST00000571748 Transcript upstream_gene_variant - - - - - rs552690194 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=34;STRAND=-1;SYMBOL=TIGD7;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18331;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs552690194 16:3305184 A ENSG00000140993 ENST00000572297 Transcript upstream_gene_variant - - - - - rs552690194 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=113;STRAND=-1;SYMBOL=TIGD7;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18331;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs552690194 16:3305184 A ENSG00000140993 ENST00000573608 Transcript intron_variant - - - - - rs552690194 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;FLAGS=cds_end_NF;SYMBOL=TIGD7;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18331;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs552690194 16:3305184 A ENSG00000140993 ENST00000573695 Transcript intron_variant,non_coding_transcript_variant - - - - - rs552690194 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=TIGD7;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18331;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs552690194 16:3305184 A ENSG00000262899 ENST00000574245 Transcript downstream_gene_variant - - - - - rs552690194 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=2389;STRAND=-1;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs552690194 16:3305184 A ENSG00000162086 ENST00000574298 Transcript upstream_gene_variant - - - - - rs552690194 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=288;STRAND=1;SYMBOL=ZNF75A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13146;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs552690194 16:3305184 A ENSG00000140993 ENST00000574598 Transcript upstream_gene_variant - - - - - rs552690194 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=1312;STRAND=-1;SYMBOL=TIGD7;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18331;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs552690194 16:3305184 A ENSG00000006194 ENST00000574674 Transcript downstream_gene_variant - - - - - rs552690194 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=3783;STRAND=1;FLAGS=cds_start_NF;SYMBOL=ZNF263;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13056;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs552690194 16:3305184 A ENSG00000162086 ENST00000575234 Transcript upstream_gene_variant - - - - - rs552690194 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=300;STRAND=1;SYMBOL=ZNF75A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13146;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs552690194 16:3305184 A ENSG00000006194 ENST00000575332 Transcript downstream_gene_variant - - - - - rs552690194 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=3784;STRAND=1;FLAGS=cds_start_NF;SYMBOL=ZNF263;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13056;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs552690194 16:3305184 A ENSG00000162086 ENST00000575812 Transcript upstream_gene_variant - - - - - rs552690194 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=3554;STRAND=1;SYMBOL=ZNF75A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13146;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs552690194 16:3305184 A ENSG00000140993 ENST00000576104 Transcript intron_variant,non_coding_transcript_variant - - - - - rs552690194 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=TIGD7;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18331;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs552690194 16:3305184 A ENSG00000162086 ENST00000612186 Transcript upstream_gene_variant - - - - - rs552690194 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=3148;STRAND=1;SYMBOL=ZNF75A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13146;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs552690194 16:3305184 A ENSG00000162086 ENST00000669516 Transcript upstream_gene_variant - - - - - rs552690194 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=313;STRAND=1;SYMBOL=ZNF75A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13146;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs539748166 16:3305532 T ENSG00000140993 ENST00000396862 Transcript upstream_gene_variant - - - - - rs539748166 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=102;STRAND=-1;SYMBOL=TIGD7;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18331;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs539748166 16:3305532 T ENSG00000162086 ENST00000498240 Transcript 5_prime_UTR_variant,NMD_transcript_variant 127 - - - - rs539748166 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=ZNF75A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13146;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs539748166 16:3305532 T ENSG00000140993 ENST00000570634 Transcript non_coding_transcript_exon_variant 198 - - - - rs539748166 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=TIGD7;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18331;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs539748166 16:3305532 T ENSG00000162086 ENST00000571101 Transcript non_coding_transcript_exon_variant 25 - - - - rs539748166 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=ZNF75A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13146;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs539748166 16:3305532 T ENSG00000140993 ENST00000571748 Transcript upstream_gene_variant - - - - - rs539748166 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=382;STRAND=-1;SYMBOL=TIGD7;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18331;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs539748166 16:3305532 T ENSG00000140993 ENST00000572297 Transcript upstream_gene_variant - - - - - rs539748166 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=461;STRAND=-1;SYMBOL=TIGD7;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18331;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs539748166 16:3305532 T ENSG00000140993 ENST00000573608 Transcript 5_prime_UTR_variant 174 - - - - rs539748166 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;FLAGS=cds_end_NF;SYMBOL=TIGD7;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18331;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs539748166 16:3305532 T ENSG00000140993 ENST00000573695 Transcript upstream_gene_variant - - - - - rs539748166 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=102;STRAND=-1;SYMBOL=TIGD7;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18331;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs539748166 16:3305532 T ENSG00000262899 ENST00000574245 Transcript downstream_gene_variant - - - - - rs539748166 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2041;STRAND=-1;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs539748166 16:3305532 T ENSG00000162086 ENST00000574298 Transcript 5_prime_UTR_variant 61 - - - - rs539748166 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=ZNF75A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13146;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs539748166 16:3305532 T ENSG00000140993 ENST00000574598 Transcript upstream_gene_variant - - - - - rs539748166 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1660;STRAND=-1;SYMBOL=TIGD7;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18331;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs539748166 16:3305532 T ENSG00000006194 ENST00000574674 Transcript downstream_gene_variant - - - - - rs539748166 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=4131;STRAND=1;FLAGS=cds_start_NF;SYMBOL=ZNF263;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13056;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs539748166 16:3305532 T ENSG00000162086 ENST00000575234 Transcript non_coding_transcript_exon_variant 49 - - - - rs539748166 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=ZNF75A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13146;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs539748166 16:3305532 T ENSG00000006194 ENST00000575332 Transcript downstream_gene_variant - - - - - rs539748166 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=4132;STRAND=1;FLAGS=cds_start_NF;SYMBOL=ZNF263;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13056;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs539748166 16:3305532 T ENSG00000162086 ENST00000575812 Transcript upstream_gene_variant - - - - - rs539748166 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=3206;STRAND=1;SYMBOL=ZNF75A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13146;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs539748166 16:3305532 T ENSG00000140993 ENST00000576104 Transcript non_coding_transcript_exon_variant 196 - - - - rs539748166 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=TIGD7;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18331;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs539748166 16:3305532 T ENSG00000162086 ENST00000612186 Transcript upstream_gene_variant - - - - - rs539748166 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2800;STRAND=1;SYMBOL=ZNF75A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13146;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs539748166 16:3305532 T ENSG00000162086 ENST00000669516 Transcript 5_prime_UTR_variant 36 - - - - rs539748166 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=ZNF75A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13146;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs537515226 16:3305664 T ENSG00000140993 ENST00000396862 Transcript upstream_gene_variant - - - - - rs537515226 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=234;STRAND=-1;SYMBOL=TIGD7;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18331;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001 rs537515226 16:3305664 T ENSG00000162086 ENST00000498240 Transcript intron_variant,NMD_transcript_variant - - - - - rs537515226 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=ZNF75A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13146;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001 rs537515226 16:3305664 T ENSG00000140993 ENST00000570634 Transcript non_coding_transcript_exon_variant 66 - - - - rs537515226 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=TIGD7;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18331;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001 rs537515226 16:3305664 T ENSG00000162086 ENST00000571101 Transcript intron_variant,non_coding_transcript_variant - - - - - rs537515226 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=ZNF75A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13146;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001 rs537515226 16:3305664 T ENSG00000140993 ENST00000571748 Transcript upstream_gene_variant - - - - - rs537515226 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=514;STRAND=-1;SYMBOL=TIGD7;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18331;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001 rs537515226 16:3305664 T ENSG00000140993 ENST00000572297 Transcript upstream_gene_variant - - - - - rs537515226 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=593;STRAND=-1;SYMBOL=TIGD7;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18331;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001 rs537515226 16:3305664 T ENSG00000140993 ENST00000573608 Transcript 5_prime_UTR_variant 42 - - - - rs537515226 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;FLAGS=cds_end_NF;SYMBOL=TIGD7;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18331;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001 rs537515226 16:3305664 T ENSG00000140993 ENST00000573695 Transcript upstream_gene_variant - - - - - rs537515226 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=234;STRAND=-1;SYMBOL=TIGD7;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18331;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001 rs537515226 16:3305664 T ENSG00000162086 ENST00000573828 Transcript upstream_gene_variant - - - - - rs537515226 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=4947;STRAND=1;SYMBOL=ZNF75A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13146;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001 rs537515226 16:3305664 T ENSG00000262899 ENST00000574245 Transcript downstream_gene_variant - - - - - rs537515226 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1909;STRAND=-1;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001 rs537515226 16:3305664 T ENSG00000162086 ENST00000574298 Transcript intron_variant - - - - - rs537515226 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=ZNF75A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13146;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001 rs537515226 16:3305664 T ENSG00000140993 ENST00000574598 Transcript upstream_gene_variant - - - - - rs537515226 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1792;STRAND=-1;SYMBOL=TIGD7;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18331;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001 rs537515226 16:3305664 T ENSG00000006194 ENST00000574674 Transcript downstream_gene_variant - - - - - rs537515226 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=4263;STRAND=1;FLAGS=cds_start_NF;SYMBOL=ZNF263;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13056;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001 rs537515226 16:3305664 T ENSG00000162086 ENST00000575234 Transcript non_coding_transcript_exon_variant 181 - - - - rs537515226 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=ZNF75A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13146;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001 rs537515226 16:3305664 T ENSG00000006194 ENST00000575332 Transcript downstream_gene_variant - - - - - rs537515226 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=4264;STRAND=1;FLAGS=cds_start_NF;SYMBOL=ZNF263;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13056;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001 rs537515226 16:3305664 T ENSG00000162086 ENST00000575812 Transcript upstream_gene_variant - - - - - rs537515226 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=3074;STRAND=1;SYMBOL=ZNF75A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13146;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001 rs537515226 16:3305664 T ENSG00000140993 ENST00000576104 Transcript non_coding_transcript_exon_variant 64 - - - - rs537515226 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=TIGD7;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18331;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001 rs537515226 16:3305664 T ENSG00000162086 ENST00000612186 Transcript upstream_gene_variant - - - - - rs537515226 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2668;STRAND=1;SYMBOL=ZNF75A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13146;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001 rs537515226 16:3305664 T ENSG00000162086 ENST00000669516 Transcript intron_variant - - - - - rs537515226 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=ZNF75A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13146;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001 rs538017052 17:63017959 G ENSG00000170921 ENST00000389520 Transcript intron_variant - - - - - rs538017052 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=TANC2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30212;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs538017052 17:63017959 G ENSG00000170921 ENST00000424789 Transcript intron_variant - - - - - rs538017052 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=TANC2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30212;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs538017052 17:63017959 G ENSG00000170921 ENST00000689528 Transcript intron_variant - - - - - rs538017052 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=TANC2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30212;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs187372618 17:63042134 C ENSG00000170921 ENST00000389520 Transcript intron_variant - - - - - rs187372618 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=TANC2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30212;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs187372618 17:63042134 C ENSG00000170921 ENST00000424789 Transcript intron_variant - - - - - rs187372618 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=TANC2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30212;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs187372618 17:63042134 C ENSG00000170921 ENST00000689528 Transcript intron_variant - - - - - rs187372618 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=TANC2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30212;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs564552383 17:63046586 T ENSG00000170921 ENST00000389520 Transcript intron_variant - - - - - rs564552383 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=TANC2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30212;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs564552383 17:63046586 T ENSG00000170921 ENST00000424789 Transcript intron_variant - - - - - rs564552383 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=TANC2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30212;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs564552383 17:63046586 T ENSG00000170921 ENST00000689528 Transcript intron_variant - - - - - rs564552383 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=TANC2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30212;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs542621575 17:63058475 T ENSG00000170921 ENST00000389520 Transcript intron_variant - - - - - rs542621575 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=TANC2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30212;AF=0.0008;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0.003;EUR_AF=0;SAS_AF=0 rs542621575 17:63058475 T ENSG00000170921 ENST00000424789 Transcript intron_variant - - - - - rs542621575 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=TANC2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30212;AF=0.0008;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0.003;EUR_AF=0;SAS_AF=0 rs542621575 17:63058475 T ENSG00000170921 ENST00000689528 Transcript intron_variant - - - - - rs542621575 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=TANC2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30212;AF=0.0008;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0.003;EUR_AF=0;SAS_AF=0 rs368693148 17:63128374 A ENSG00000170921 ENST00000389520 Transcript intron_variant - - - - - rs368693148 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=TANC2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30212;AF=0.0010;AFR_AF=0.003;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001 rs368693148 17:63128374 A ENSG00000170921 ENST00000424789 Transcript intron_variant - - - - - rs368693148 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=TANC2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30212;AF=0.0010;AFR_AF=0.003;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001 rs368693148 17:63128374 A ENSG00000170921 ENST00000580068 Transcript intron_variant - - - - - rs368693148 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_start_NF,cds_end_NF;SYMBOL=TANC2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30212;AF=0.0010;AFR_AF=0.003;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001 rs368693148 17:63128374 A ENSG00000170921 ENST00000580466 Transcript intron_variant - - - - - rs368693148 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_start_NF,cds_end_NF;SYMBOL=TANC2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30212;AF=0.0010;AFR_AF=0.003;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001 rs368693148 17:63128374 A ENSG00000264513 ENST00000582889 Transcript intron_variant,non_coding_transcript_variant - - - - - rs368693148 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;AF=0.0010;AFR_AF=0.003;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001 rs368693148 17:63128374 A ENSG00000170921 ENST00000689528 Transcript intron_variant - - - - - rs368693148 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=TANC2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30212;AF=0.0010;AFR_AF=0.003;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001 rs575821161 17:63163541 T ENSG00000170921 ENST00000389520 Transcript intron_variant - - - - - rs575821161 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=TANC2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30212;AF=0.0004;AFR_AF=0;AMR_AF=0.0029;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs575821161 17:63163541 T ENSG00000170921 ENST00000424789 Transcript intron_variant - - - - - rs575821161 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=TANC2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30212;AF=0.0004;AFR_AF=0;AMR_AF=0.0029;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs575821161 17:63163541 T ENSG00000170921 ENST00000580068 Transcript intron_variant - - - - - rs575821161 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_start_NF,cds_end_NF;SYMBOL=TANC2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30212;AF=0.0004;AFR_AF=0;AMR_AF=0.0029;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs575821161 17:63163541 T ENSG00000170921 ENST00000580466 Transcript intron_variant - - - - - rs575821161 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_start_NF,cds_end_NF;SYMBOL=TANC2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30212;AF=0.0004;AFR_AF=0;AMR_AF=0.0029;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs575821161 17:63163541 T ENSG00000170921 ENST00000689528 Transcript intron_variant - - - - - rs575821161 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=TANC2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30212;AF=0.0004;AFR_AF=0;AMR_AF=0.0029;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs118094873 17:63176080 A ENSG00000170921 ENST00000389520 Transcript intron_variant - - - - - rs118094873 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=TANC2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30212;AF=0.0008;AFR_AF=0;AMR_AF=0;EAS_AF=0.004;EUR_AF=0;SAS_AF=0 rs118094873 17:63176080 A ENSG00000170921 ENST00000424789 Transcript intron_variant - - - - - rs118094873 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=TANC2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30212;AF=0.0008;AFR_AF=0;AMR_AF=0;EAS_AF=0.004;EUR_AF=0;SAS_AF=0 rs118094873 17:63176080 A ENSG00000170921 ENST00000580068 Transcript intron_variant - - - - - rs118094873 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_start_NF,cds_end_NF;SYMBOL=TANC2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30212;AF=0.0008;AFR_AF=0;AMR_AF=0;EAS_AF=0.004;EUR_AF=0;SAS_AF=0 rs118094873 17:63176080 A ENSG00000170921 ENST00000580466 Transcript intron_variant - - - - - rs118094873 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_start_NF,cds_end_NF;SYMBOL=TANC2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30212;AF=0.0008;AFR_AF=0;AMR_AF=0;EAS_AF=0.004;EUR_AF=0;SAS_AF=0 rs118094873 17:63176080 A ENSG00000170921 ENST00000689528 Transcript intron_variant - - - - - rs118094873 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=TANC2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30212;AF=0.0008;AFR_AF=0;AMR_AF=0;EAS_AF=0.004;EUR_AF=0;SAS_AF=0 rs553051779 17:63180981 C ENSG00000170921 ENST00000389520 Transcript intron_variant - - - - - rs553051779 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=TANC2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30212;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs553051779 17:63180981 C ENSG00000170921 ENST00000424789 Transcript intron_variant - - - - - rs553051779 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=TANC2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30212;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs553051779 17:63180981 C ENSG00000264529 ENST00000578523 Transcript upstream_gene_variant - - - - - rs553051779 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=1185;STRAND=1;SYMBOL=DNAJB6P8;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:54761;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs553051779 17:63180981 C ENSG00000170921 ENST00000580068 Transcript intron_variant - - - - - rs553051779 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_start_NF,cds_end_NF;SYMBOL=TANC2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30212;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs553051779 17:63180981 C ENSG00000170921 ENST00000580466 Transcript intron_variant - - - - - rs553051779 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_start_NF,cds_end_NF;SYMBOL=TANC2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30212;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs553051779 17:63180981 C ENSG00000170921 ENST00000689528 Transcript intron_variant - - - - - rs553051779 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=TANC2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30212;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs2429744 17:63205966 C ENSG00000170921 ENST00000389520 Transcript intron_variant - - - - - rs2429744 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=TANC2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30212;AF=0.2147;AFR_AF=0.6369;AMR_AF=0.0764;EAS_AF=0.0139;EUR_AF=0.0636;SAS_AF=0.1043 rs2429744 17:63205966 C ENSG00000170921 ENST00000424789 Transcript intron_variant - - - - - rs2429744 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=TANC2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30212;AF=0.2147;AFR_AF=0.6369;AMR_AF=0.0764;EAS_AF=0.0139;EUR_AF=0.0636;SAS_AF=0.1043 rs2429744 17:63205966 C ENSG00000233635 ENST00000581421 Transcript intron_variant,non_coding_transcript_variant - - - - - rs2429744 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;AF=0.2147;AFR_AF=0.6369;AMR_AF=0.0764;EAS_AF=0.0139;EUR_AF=0.0636;SAS_AF=0.1043 rs2429744 17:63205966 C ENSG00000170921 ENST00000583356 Transcript intron_variant - - - - - rs2429744 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_start_NF;SYMBOL=TANC2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30212;AF=0.2147;AFR_AF=0.6369;AMR_AF=0.0764;EAS_AF=0.0139;EUR_AF=0.0636;SAS_AF=0.1043 rs2429744 17:63205966 C ENSG00000170921 ENST00000689528 Transcript intron_variant - - - - - rs2429744 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=TANC2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30212;AF=0.2147;AFR_AF=0.6369;AMR_AF=0.0764;EAS_AF=0.0139;EUR_AF=0.0636;SAS_AF=0.1043 rs559629072 17:63216979 A ENSG00000170921 ENST00000389520 Transcript intron_variant - - - - - rs559629072 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=TANC2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30212;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs559629072 17:63216979 A ENSG00000170921 ENST00000424789 Transcript intron_variant - - - - - rs559629072 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=TANC2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30212;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs559629072 17:63216979 A ENSG00000233635 ENST00000581421 Transcript intron_variant,non_coding_transcript_variant - - - - - rs559629072 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs559629072 17:63216979 A ENSG00000170921 ENST00000583356 Transcript intron_variant - - - - - rs559629072 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_start_NF;SYMBOL=TANC2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30212;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs559629072 17:63216979 A ENSG00000170921 ENST00000689528 Transcript intron_variant - - - - - rs559629072 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=TANC2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30212;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs553183034 17:63336025 T ENSG00000170921 ENST00000389520 Transcript intron_variant - - - - - rs553183034 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=TANC2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30212;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs553183034 17:63336025 T ENSG00000170921 ENST00000424789 Transcript intron_variant - - - - - rs553183034 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=TANC2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30212;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs553183034 17:63336025 T ENSG00000233635 ENST00000581421 Transcript intron_variant,non_coding_transcript_variant - - - - - rs553183034 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs553183034 17:63336025 T ENSG00000170921 ENST00000583356 Transcript intron_variant - - - - - rs553183034 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_start_NF;SYMBOL=TANC2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30212;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs553183034 17:63336025 T ENSG00000271919 ENST00000607331 Transcript upstream_gene_variant - - - - - rs553183034 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=3486;STRAND=-1;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs553183034 17:63336025 T ENSG00000170921 ENST00000689528 Transcript intron_variant - - - - - rs553183034 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=TANC2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30212;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs181924845 17:63353634 C ENSG00000170921 ENST00000389520 Transcript intron_variant - - - - - rs181924845 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=TANC2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30212;AF=0.0004;AFR_AF=0;AMR_AF=0;EAS_AF=0.002;EUR_AF=0;SAS_AF=0 rs181924845 17:63353634 C ENSG00000170921 ENST00000424789 Transcript intron_variant - - - - - rs181924845 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=TANC2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30212;AF=0.0004;AFR_AF=0;AMR_AF=0;EAS_AF=0.002;EUR_AF=0;SAS_AF=0 rs181924845 17:63353634 C ENSG00000170921 ENST00000583356 Transcript intron_variant - - - - - rs181924845 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_start_NF;SYMBOL=TANC2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30212;AF=0.0004;AFR_AF=0;AMR_AF=0;EAS_AF=0.002;EUR_AF=0;SAS_AF=0 rs181924845 17:63353634 C ENSG00000170921 ENST00000583545 Transcript upstream_gene_variant - - - - - rs181924845 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1421;STRAND=1;SYMBOL=TANC2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30212;AF=0.0004;AFR_AF=0;AMR_AF=0;EAS_AF=0.002;EUR_AF=0;SAS_AF=0 rs181924845 17:63353634 C ENSG00000170921 ENST00000689528 Transcript intron_variant - - - - - rs181924845 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=TANC2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30212;AF=0.0004;AFR_AF=0;AMR_AF=0;EAS_AF=0.002;EUR_AF=0;SAS_AF=0 rs564724257 17:63397578 T ENSG00000170921 ENST00000389520 Transcript intron_variant - - - - - rs564724257 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=TANC2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30212;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001 rs564724257 17:63397578 T ENSG00000170921 ENST00000424789 Transcript intron_variant - - - - - rs564724257 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=TANC2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30212;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001 rs564724257 17:63397578 T ENSG00000226797 ENST00000431604 Transcript intron_variant,non_coding_transcript_variant - - - - - rs564724257 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001 rs564724257 17:63397578 T ENSG00000170921 ENST00000581143 Transcript downstream_gene_variant - - - - - rs564724257 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=602;STRAND=1;SYMBOL=TANC2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30212;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001 rs564724257 17:63397578 T ENSG00000170921 ENST00000583016 Transcript intron_variant - - - - - rs564724257 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_start_NF;SYMBOL=TANC2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30212;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001 rs564724257 17:63397578 T ENSG00000170921 ENST00000583356 Transcript intron_variant - - - - - rs564724257 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_start_NF;SYMBOL=TANC2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30212;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001 rs564724257 17:63397578 T ENSG00000263644 ENST00000583552 Transcript intron_variant,non_coding_transcript_variant - - - - - rs564724257 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001 rs564724257 17:63397578 T ENSG00000271749 ENST00000606610 Transcript downstream_gene_variant - - - - - rs564724257 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=3992;STRAND=1;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001 rs564724257 17:63397578 T ENSG00000170921 ENST00000689528 Transcript intron_variant - - - - - rs564724257 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=TANC2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30212;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001 rs9914441 17:77969276 G ENSG00000078687 ENST00000636222 Transcript intron_variant - - - - - rs9914441 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=TNRC6C;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29318;AF=0.0982;AFR_AF=0.3162;AMR_AF=0.036;EAS_AF=0.0069;EUR_AF=0.007;SAS_AF=0.0358 rs9914441 17:77969276 G ENSG00000078687 ENST00000696270 Transcript intron_variant - - - - - rs9914441 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=TNRC6C;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29318;AF=0.0982;AFR_AF=0.3162;AMR_AF=0.036;EAS_AF=0.0069;EUR_AF=0.007;SAS_AF=0.0358 rs9914441 17:77969276 G ENSG00000078687 ENST00000696541 Transcript intron_variant - - - - - rs9914441 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=TNRC6C;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29318;AF=0.0982;AFR_AF=0.3162;AMR_AF=0.036;EAS_AF=0.0069;EUR_AF=0.007;SAS_AF=0.0358 rs559267459 17:77972208 T ENSG00000078687 ENST00000636222 Transcript intron_variant - - - - - rs559267459 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=TNRC6C;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29318;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs559267459 17:77972208 T ENSG00000078687 ENST00000696270 Transcript intron_variant - - - - - rs559267459 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=TNRC6C;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29318;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs559267459 17:77972208 T ENSG00000078687 ENST00000696541 Transcript intron_variant - - - - - rs559267459 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=TNRC6C;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29318;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs543835842 17:77974378 A ENSG00000078687 ENST00000636222 Transcript intron_variant - - - - - rs543835842 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=TNRC6C;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29318;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001 rs543835842 17:77974378 A ENSG00000078687 ENST00000696270 Transcript intron_variant - - - - - rs543835842 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=TNRC6C;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29318;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001 rs543835842 17:77974378 A ENSG00000078687 ENST00000696541 Transcript intron_variant - - - - - rs543835842 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=TNRC6C;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29318;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001 rs143422951 17:78015935 C ENSG00000078687 ENST00000588847 Transcript intron_variant,non_coding_transcript_variant - - - - - rs143422951 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=TNRC6C;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29318;AF=0.0014;AFR_AF=0.0045;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs143422951 17:78015935 C ENSG00000078687 ENST00000636222 Transcript intron_variant - - - - - rs143422951 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=TNRC6C;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29318;AF=0.0014;AFR_AF=0.0045;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs143422951 17:78015935 C ENSG00000078687 ENST00000696270 Transcript intron_variant - - - - - rs143422951 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=TNRC6C;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29318;AF=0.0014;AFR_AF=0.0045;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs143422951 17:78015935 C ENSG00000078687 ENST00000696541 Transcript intron_variant - - - - - rs143422951 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=TNRC6C;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29318;AF=0.0014;AFR_AF=0.0045;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs80261573 17:78016769 C ENSG00000078687 ENST00000588847 Transcript intron_variant,non_coding_transcript_variant - - - - - rs80261573 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=TNRC6C;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29318;AF=0.0012;AFR_AF=0;AMR_AF=0;EAS_AF=0.006;EUR_AF=0;SAS_AF=0 rs80261573 17:78016769 C ENSG00000078687 ENST00000636222 Transcript intron_variant - - - - - rs80261573 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=TNRC6C;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29318;AF=0.0012;AFR_AF=0;AMR_AF=0;EAS_AF=0.006;EUR_AF=0;SAS_AF=0 rs80261573 17:78016769 C ENSG00000078687 ENST00000696270 Transcript intron_variant - - - - - rs80261573 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=TNRC6C;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29318;AF=0.0012;AFR_AF=0;AMR_AF=0;EAS_AF=0.006;EUR_AF=0;SAS_AF=0 rs80261573 17:78016769 C ENSG00000078687 ENST00000696541 Transcript intron_variant - - - - - rs80261573 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=TNRC6C;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29318;AF=0.0012;AFR_AF=0;AMR_AF=0;EAS_AF=0.006;EUR_AF=0;SAS_AF=0 rs112449282 17:78028662 C ENSG00000078687 ENST00000585438 Transcript upstream_gene_variant - - - - - rs112449282 IND=P1;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=2860;STRAND=1;FLAGS=cds_start_NF,cds_end_NF;SYMBOL=TNRC6C;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29318;AF=0.0032;AFR_AF=0.0121;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs112449282 17:78028662 C ENSG00000078687 ENST00000588847 Transcript intron_variant,non_coding_transcript_variant - - - - - rs112449282 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=TNRC6C;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29318;AF=0.0032;AFR_AF=0.0121;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs112449282 17:78028662 C ENSG00000078687 ENST00000636222 Transcript intron_variant - - - - - rs112449282 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=TNRC6C;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29318;AF=0.0032;AFR_AF=0.0121;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs112449282 17:78028662 C ENSG00000078687 ENST00000696270 Transcript intron_variant - - - - - rs112449282 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=TNRC6C;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29318;AF=0.0032;AFR_AF=0.0121;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs112449282 17:78028662 C ENSG00000078687 ENST00000696541 Transcript intron_variant - - - - - rs112449282 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=TNRC6C;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29318;AF=0.0032;AFR_AF=0.0121;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs527356303 17:78036917 G ENSG00000078687 ENST00000585438 Transcript intron_variant - - - - - rs527356303 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_start_NF,cds_end_NF;SYMBOL=TNRC6C;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29318;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs527356303 17:78036917 G ENSG00000078687 ENST00000588549 Transcript upstream_gene_variant - - - - - rs527356303 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=4130;STRAND=1;FLAGS=cds_end_NF;SYMBOL=TNRC6C;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29318;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs527356303 17:78036917 G ENSG00000078687 ENST00000636222 Transcript intron_variant - - - - - rs527356303 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=TNRC6C;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29318;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs527356303 17:78036917 G ENSG00000078687 ENST00000696270 Transcript intron_variant - - - - - rs527356303 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=TNRC6C;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29318;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs527356303 17:78036917 G ENSG00000078687 ENST00000696541 Transcript intron_variant - - - - - rs527356303 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=TNRC6C;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29318;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs182534722 17:78047708 T ENSG00000078687 ENST00000585438 Transcript intron_variant - - - - - rs182534722 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_start_NF,cds_end_NF;SYMBOL=TNRC6C;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29318;AF=0.0004;AFR_AF=0.0015;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs182534722 17:78047708 T ENSG00000078687 ENST00000588061 Transcript upstream_gene_variant - - - - - rs182534722 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1205;STRAND=1;FLAGS=cds_start_NF;SYMBOL=TNRC6C;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29318;AF=0.0004;AFR_AF=0.0015;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs182534722 17:78047708 T ENSG00000078687 ENST00000588549 Transcript intron_variant - - - - - rs182534722 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_end_NF;SYMBOL=TNRC6C;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29318;AF=0.0004;AFR_AF=0.0015;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs182534722 17:78047708 T ENSG00000078687 ENST00000591851 Transcript upstream_gene_variant - - - - - rs182534722 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=3359;STRAND=1;SYMBOL=TNRC6C;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29318;AF=0.0004;AFR_AF=0.0015;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs182534722 17:78047708 T ENSG00000078687 ENST00000636222 Transcript intron_variant - - - - - rs182534722 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=TNRC6C;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29318;AF=0.0004;AFR_AF=0.0015;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs182534722 17:78047708 T ENSG00000078687 ENST00000696270 Transcript intron_variant - - - - - rs182534722 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=TNRC6C;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29318;AF=0.0004;AFR_AF=0.0015;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs182534722 17:78047708 T ENSG00000078687 ENST00000696541 Transcript intron_variant - - - - - rs182534722 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=TNRC6C;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29318;AF=0.0004;AFR_AF=0.0015;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs150252046 17:78052216 C ENSG00000078687 ENST00000585438 Transcript intron_variant - - - - - rs150252046 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_start_NF,cds_end_NF;SYMBOL=TNRC6C;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29318;AF=0.0060;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0.001;SAS_AF=0.0286 rs150252046 17:78052216 C ENSG00000078687 ENST00000588061 Transcript intron_variant - - - - - rs150252046 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_start_NF;SYMBOL=TNRC6C;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29318;AF=0.0060;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0.001;SAS_AF=0.0286 rs150252046 17:78052216 C ENSG00000078687 ENST00000588549 Transcript downstream_gene_variant - - - - - rs150252046 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2867;STRAND=1;FLAGS=cds_end_NF;SYMBOL=TNRC6C;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29318;AF=0.0060;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0.001;SAS_AF=0.0286 rs150252046 17:78052216 C ENSG00000078687 ENST00000591851 Transcript intron_variant,non_coding_transcript_variant - - - - - rs150252046 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=TNRC6C;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29318;AF=0.0060;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0.001;SAS_AF=0.0286 rs150252046 17:78052216 C ENSG00000078687 ENST00000636222 Transcript intron_variant - - - - - rs150252046 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=TNRC6C;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29318;AF=0.0060;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0.001;SAS_AF=0.0286 rs150252046 17:78052216 C ENSG00000078687 ENST00000696270 Transcript intron_variant - - - - - rs150252046 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=TNRC6C;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29318;AF=0.0060;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0.001;SAS_AF=0.0286 rs150252046 17:78052216 C ENSG00000078687 ENST00000696541 Transcript intron_variant - - - - - rs150252046 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=TNRC6C;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29318;AF=0.0060;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0.001;SAS_AF=0.0286 rs567502103 17:78066155 T ENSG00000238658 ENST00000459412 Transcript upstream_gene_variant - - - - - rs567502103 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=792;STRAND=1;SYMBOL=RNU6-625P;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:47588;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs567502103 17:78066155 T ENSG00000078687 ENST00000585438 Transcript intron_variant - - - - - rs567502103 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_start_NF,cds_end_NF;SYMBOL=TNRC6C;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29318;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs567502103 17:78066155 T ENSG00000267463 ENST00000587677 Transcript downstream_gene_variant - - - - - rs567502103 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=103;STRAND=-1;SYMBOL=UBE2V2P2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:44887;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs567502103 17:78066155 T ENSG00000078687 ENST00000587990 Transcript intron_variant,non_coding_transcript_variant - - - - - rs567502103 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=TNRC6C;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29318;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs567502103 17:78066155 T ENSG00000078687 ENST00000588061 Transcript intron_variant - - - - - rs567502103 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_start_NF;SYMBOL=TNRC6C;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29318;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs567502103 17:78066155 T ENSG00000078687 ENST00000591851 Transcript intron_variant,non_coding_transcript_variant - - - - - rs567502103 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=TNRC6C;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29318;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs567502103 17:78066155 T ENSG00000078687 ENST00000636222 Transcript intron_variant - - - - - rs567502103 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=TNRC6C;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29318;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs567502103 17:78066155 T ENSG00000078687 ENST00000696270 Transcript intron_variant - - - - - rs567502103 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=TNRC6C;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29318;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs567502103 17:78066155 T ENSG00000078687 ENST00000696541 Transcript intron_variant - - - - - rs567502103 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=TNRC6C;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29318;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs190521968 17:78070651 A ENSG00000238658 ENST00000459412 Transcript downstream_gene_variant - - - - - rs190521968 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=3598;STRAND=1;SYMBOL=RNU6-625P;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:47588;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs190521968 17:78070651 A ENSG00000078687 ENST00000585438 Transcript downstream_gene_variant - - - - - rs190521968 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2741;STRAND=1;FLAGS=cds_start_NF,cds_end_NF;SYMBOL=TNRC6C;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29318;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs190521968 17:78070651 A ENSG00000267463 ENST00000587677 Transcript upstream_gene_variant - - - - - rs190521968 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=3890;STRAND=-1;SYMBOL=UBE2V2P2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:44887;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs190521968 17:78070651 A ENSG00000078687 ENST00000587990 Transcript intron_variant,non_coding_transcript_variant - - - - - rs190521968 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=TNRC6C;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29318;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs190521968 17:78070651 A ENSG00000078687 ENST00000588061 Transcript intron_variant - - - - - rs190521968 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_start_NF;SYMBOL=TNRC6C;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29318;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs190521968 17:78070651 A ENSG00000078687 ENST00000591851 Transcript intron_variant,non_coding_transcript_variant - - - - - rs190521968 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=TNRC6C;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29318;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs190521968 17:78070651 A ENSG00000078687 ENST00000636222 Transcript intron_variant - - - - - rs190521968 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=TNRC6C;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29318;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs190521968 17:78070651 A ENSG00000078687 ENST00000696270 Transcript intron_variant - - - - - rs190521968 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=TNRC6C;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29318;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs190521968 17:78070651 A ENSG00000078687 ENST00000696541 Transcript intron_variant - - - - - rs190521968 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=TNRC6C;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29318;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs570429045 17:78080479 T ENSG00000078687 ENST00000588061 Transcript intron_variant - - - - - rs570429045 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_start_NF;SYMBOL=TNRC6C;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29318;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs570429045 17:78080479 T ENSG00000078687 ENST00000591851 Transcript downstream_gene_variant - - - - - rs570429045 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2700;STRAND=1;SYMBOL=TNRC6C;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29318;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs570429045 17:78080479 T ENSG00000078687 ENST00000636222 Transcript intron_variant - - - - - rs570429045 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=TNRC6C;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29318;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs570429045 17:78080479 T ENSG00000078687 ENST00000696270 Transcript intron_variant - - - - - rs570429045 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=TNRC6C;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29318;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs570429045 17:78080479 T ENSG00000078687 ENST00000696541 Transcript intron_variant - - - - - rs570429045 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=TNRC6C;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29318;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs529462367 17:78083540 G ENSG00000078687 ENST00000588061 Transcript intron_variant - - - - - rs529462367 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_start_NF;SYMBOL=TNRC6C;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29318;AF=0.0004;AFR_AF=0;AMR_AF=0;EAS_AF=0.002;EUR_AF=0;SAS_AF=0 rs529462367 17:78083540 G ENSG00000078687 ENST00000636222 Transcript intron_variant - - - - - rs529462367 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=TNRC6C;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29318;AF=0.0004;AFR_AF=0;AMR_AF=0;EAS_AF=0.002;EUR_AF=0;SAS_AF=0 rs529462367 17:78083540 G ENSG00000078687 ENST00000696270 Transcript intron_variant - - - - - rs529462367 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=TNRC6C;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29318;AF=0.0004;AFR_AF=0;AMR_AF=0;EAS_AF=0.002;EUR_AF=0;SAS_AF=0 rs529462367 17:78083540 G ENSG00000078687 ENST00000696541 Transcript intron_variant - - - - - rs529462367 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=TNRC6C;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29318;AF=0.0004;AFR_AF=0;AMR_AF=0;EAS_AF=0.002;EUR_AF=0;SAS_AF=0 rs1332239671 19:11199515 C ENSG00000130158 ENST00000294618 Transcript missense_variant 6210 6126 2042 F/L ttC/ttG rs1332239671 IND=P2;ZYG=HOM;IMPACT=MODERATE;STRAND=-1;SYMBOL=DOCK6;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19189;SIFT=tolerated_low_confidence(0.48);PolyPhen=benign(0.005);gnomAD_AF=4.943e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=1.133e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;G2P_complete=biallelic_autosomal=HOM:19_11199515_G/C;G2P_flag=biallelic_autosomal=HOM rs1332239671 19:11199515 C ENSG00000197256 ENST00000586659 Transcript upstream_gene_variant - - - - - rs1332239671 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=1970;STRAND=-1;SYMBOL=KANK2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29300;gnomAD_AF=4.943e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=1.133e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1332239671 19:11199515 C ENSG00000130158 ENST00000586702 Transcript non_coding_transcript_exon_variant 1029 - - - - rs1332239671 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=DOCK6;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19189;gnomAD_AF=4.943e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=1.133e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1332239671 19:11199515 C ENSG00000130158 ENST00000587656 Transcript missense_variant 3991 3993 1331 F/L ttC/ttG rs1332239671 IND=P2;ZYG=HOM;IMPACT=MODERATE;STRAND=-1;FLAGS=cds_start_NF;SYMBOL=DOCK6;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19189;SIFT=tolerated_low_confidence(0.45);PolyPhen=benign(0.009);gnomAD_AF=4.943e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=1.133e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;G2P_complete=biallelic_autosomal=HOM:19_11199515_G/C;G2P_flag=biallelic_autosomal=HOM rs1332239671 19:11199515 C ENSG00000130158 ENST00000587734 Transcript missense_variant 100 100 34 P/A Ccg/Gcg rs1332239671 IND=P2;ZYG=HOM;IMPACT=MODERATE;STRAND=-1;FLAGS=cds_start_NF;SYMBOL=DOCK6;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19189;PolyPhen=benign(0);gnomAD_AF=4.943e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=1.133e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;G2P_complete=biallelic_autosomal=HOM:19_11199515_G/C;G2P_flag=biallelic_autosomal=HOM rs1332239671 19:11199515 C ENSG00000267082 ENST00000588634 Transcript upstream_gene_variant - - - - - rs1332239671 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=4113;STRAND=1;gnomAD_AF=4.943e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=1.133e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1332239671 19:11199515 C ENSG00000130158 ENST00000588666 Transcript downstream_gene_variant - - - - - rs1332239671 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=2567;STRAND=-1;FLAGS=cds_start_NF,cds_end_NF;SYMBOL=DOCK6;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19189;gnomAD_AF=4.943e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=1.133e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1332239671 19:11199515 C ENSG00000197256 ENST00000588724 Transcript upstream_gene_variant - - - - - rs1332239671 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=1967;STRAND=-1;FLAGS=cds_end_NF;SYMBOL=KANK2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29300;gnomAD_AF=4.943e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=1.133e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1332239671 19:11199515 C ENSG00000197256 ENST00000589359 Transcript upstream_gene_variant - - - - - rs1332239671 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=1968;STRAND=-1;SYMBOL=KANK2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29300;gnomAD_AF=4.943e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=1.133e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1332239671 19:11199515 C ENSG00000197256 ENST00000589427 Transcript upstream_gene_variant - - - - - rs1332239671 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=2332;STRAND=-1;SYMBOL=KANK2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29300;gnomAD_AF=4.943e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=1.133e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1332239671 19:11199515 C ENSG00000197256 ENST00000590095 Transcript upstream_gene_variant - - - - - rs1332239671 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=3288;STRAND=-1;SYMBOL=KANK2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29300;gnomAD_AF=4.943e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=1.133e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1332239671 19:11199515 C ENSG00000197256 ENST00000590400 Transcript upstream_gene_variant - - - - - rs1332239671 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=1724;STRAND=-1;SYMBOL=KANK2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29300;gnomAD_AF=4.943e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=1.133e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1332239671 19:11199515 C ENSG00000197256 ENST00000590685 Transcript upstream_gene_variant - - - - - rs1332239671 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=4323;STRAND=-1;FLAGS=cds_end_NF;SYMBOL=KANK2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29300;gnomAD_AF=4.943e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=1.133e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1332239671 19:11199515 C ENSG00000197256 ENST00000592215 Transcript upstream_gene_variant - - - - - rs1332239671 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=3286;STRAND=-1;SYMBOL=KANK2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29300;gnomAD_AF=4.943e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=1.133e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1332239671 19:11199515 C ENSG00000197256 ENST00000592675 Transcript upstream_gene_variant - - - - - rs1332239671 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=3830;STRAND=-1;FLAGS=cds_end_NF;SYMBOL=KANK2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29300;gnomAD_AF=4.943e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=1.133e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1332239671 19:11199515 C ENSG00000197256 ENST00000592903 Transcript upstream_gene_variant - - - - - rs1332239671 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=1985;STRAND=-1;FLAGS=cds_end_NF;SYMBOL=KANK2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29300;gnomAD_AF=4.943e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=1.133e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs750689710 19:11208850 C ENSG00000130158 ENST00000294618 Transcript intron_variant - - - - - rs750689710 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=DOCK6;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19189;gnomAD_AF=4.024e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=8.891e-06;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs750689710 19:11208850 C ENSG00000130158 ENST00000587656 Transcript intron_variant - - - - - rs750689710 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;FLAGS=cds_start_NF;SYMBOL=DOCK6;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19189;gnomAD_AF=4.024e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=8.891e-06;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs750689710 19:11208850 C ENSG00000267082 ENST00000588634 Transcript intron_variant,non_coding_transcript_variant - - - - - rs750689710 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;gnomAD_AF=4.024e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=8.891e-06;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs750689710 19:11208850 C ENSG00000130158 ENST00000588666 Transcript intron_variant - - - - - rs750689710 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;FLAGS=cds_start_NF,cds_end_NF;SYMBOL=DOCK6;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19189;gnomAD_AF=4.024e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=8.891e-06;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs750689710 19:11208850 C ENSG00000130158 ENST00000592463 Transcript upstream_gene_variant - - - - - rs750689710 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=92;STRAND=-1;SYMBOL=DOCK6;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19189;gnomAD_AF=4.024e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=8.891e-06;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs750689710 19:11208850 C ENSG00000279807 ENST00000624079 Transcript downstream_gene_variant - - - - - rs750689710 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=148;STRAND=1;gnomAD_AF=4.024e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=8.891e-06;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs779305788 19:11211872 C ENSG00000130158 ENST00000294618 Transcript missense_variant 4739 4655 1552 Q/R cAg/cGg rs779305788 IND=P2;ZYG=HOM;IMPACT=MODERATE;STRAND=-1;SYMBOL=DOCK6;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19189;SIFT=tolerated(0.56);PolyPhen=benign(0.007);gnomAD_AF=2.495e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0.0003544;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;G2P_complete=biallelic_autosomal=HOM:19_11211872_T/C&HOM:19_11199515_G/C;G2P_flag=biallelic_autosomal=HOM rs779305788 19:11211872 C ENSG00000130158 ENST00000587656 Transcript missense_variant 2520 2522 841 Q/R cAg/cGg rs779305788 IND=P2;ZYG=HOM;IMPACT=MODERATE;STRAND=-1;FLAGS=cds_start_NF;SYMBOL=DOCK6;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19189;SIFT=tolerated(0.51);PolyPhen=possibly_damaging(0.5);gnomAD_AF=2.495e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0.0003544;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;G2P_complete=biallelic_autosomal=HOM:19_11211872_T/C&HOM:19_11199515_G/C;G2P_flag=biallelic_autosomal=HOM rs779305788 19:11211872 C ENSG00000130158 ENST00000588429 Transcript downstream_gene_variant - - - - - rs779305788 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=3739;STRAND=-1;SYMBOL=DOCK6;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19189;gnomAD_AF=2.495e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0.0003544;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs779305788 19:11211872 C ENSG00000267082 ENST00000588634 Transcript intron_variant,non_coding_transcript_variant - - - - - rs779305788 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;gnomAD_AF=2.495e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0.0003544;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs779305788 19:11211872 C ENSG00000130158 ENST00000588666 Transcript upstream_gene_variant - - - - - rs779305788 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=2928;STRAND=-1;FLAGS=cds_start_NF,cds_end_NF;SYMBOL=DOCK6;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19189;gnomAD_AF=2.495e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0.0003544;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs779305788 19:11211872 C ENSG00000130158 ENST00000592403 Transcript downstream_gene_variant - - - - - rs779305788 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=4804;STRAND=-1;SYMBOL=DOCK6;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19189;gnomAD_AF=2.495e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0.0003544;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs779305788 19:11211872 C ENSG00000130158 ENST00000592463 Transcript upstream_gene_variant - - - - - rs779305788 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=3114;STRAND=-1;SYMBOL=DOCK6;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19189;gnomAD_AF=2.495e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0.0003544;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs779305788 19:11211872 C ENSG00000279807 ENST00000624079 Transcript downstream_gene_variant - - - - - rs779305788 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=3170;STRAND=1;gnomAD_AF=2.495e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0.0003544;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs761843431 19:11222944 T ENSG00000130158 ENST00000294618 Transcript intron_variant - - - - - rs761843431 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=DOCK6;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19189;gnomAD_AF=8.127e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=1.8e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs761843431 19:11222944 T ENSG00000130158 ENST00000587656 Transcript intron_variant - - - - - rs761843431 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;FLAGS=cds_start_NF;SYMBOL=DOCK6;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19189;gnomAD_AF=8.127e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=1.8e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs761843431 19:11222944 T ENSG00000130158 ENST00000590680 Transcript downstream_gene_variant - - - - - rs761843431 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=4393;STRAND=-1;FLAGS=cds_start_NF,cds_end_NF;SYMBOL=DOCK6;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19189;gnomAD_AF=8.127e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=1.8e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs761843431 19:11222944 T ENSG00000130158 ENST00000592550 Transcript upstream_gene_variant - - - - - rs761843431 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=620;STRAND=-1;SYMBOL=DOCK6;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19189;gnomAD_AF=8.127e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=1.8e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs761843431 19:11222944 T ENSG00000273733 ENST00000615848 Transcript downstream_gene_variant - - - - - rs761843431 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1371;STRAND=1;gnomAD_AF=8.127e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=1.8e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs748910971 19:11238188 A ENSG00000130173 ENST00000252453 Transcript upstream_gene_variant - - - - - rs748910971 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1431;STRAND=1;SYMBOL=ANGPTL8;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24933;gnomAD_AF=2.809e-05;gnomAD_AFR_AF=0.0001291;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=3.54e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=3.268e-05 rs748910971 19:11238188 A ENSG00000130158 ENST00000294618 Transcript missense_variant,splice_region_variant 1844 1760 587 P/L cCg/cTg rs748910971 IND=P2;ZYG=HET;IMPACT=MODERATE;STRAND=-1;SYMBOL=DOCK6;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19189;SIFT=deleterious(0.01);PolyPhen=possibly_damaging(0.7);gnomAD_AF=2.809e-05;gnomAD_AFR_AF=0.0001291;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=3.54e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=3.268e-05;G2P_complete=biallelic_autosomal=HOM:19_11211872_T/C&HOM:19_11199515_G/C;G2P_flag=biallelic_autosomal=HET rs748910971 19:11238188 A ENSG00000130158 ENST00000585904 Transcript upstream_gene_variant - - - - - rs748910971 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2434;STRAND=-1;FLAGS=cds_start_NF,cds_end_NF;SYMBOL=DOCK6;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19189;gnomAD_AF=2.809e-05;gnomAD_AFR_AF=0.0001291;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=3.54e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=3.268e-05 rs748910971 19:11238188 A ENSG00000130173 ENST00000587543 Transcript upstream_gene_variant - - - - - rs748910971 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1709;STRAND=1;FLAGS=cds_start_NF;SYMBOL=ANGPTL8;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24933;gnomAD_AF=2.809e-05;gnomAD_AFR_AF=0.0001291;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=3.54e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=3.268e-05 rs748910971 19:11238188 A ENSG00000130158 ENST00000587656 Transcript upstream_gene_variant - - - - - rs748910971 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1691;STRAND=-1;FLAGS=cds_start_NF;SYMBOL=DOCK6;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19189;gnomAD_AF=2.809e-05;gnomAD_AFR_AF=0.0001291;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=3.54e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=3.268e-05 rs748910971 19:11238188 A ENSG00000130158 ENST00000590680 Transcript missense_variant,splice_region_variant 103 104 35 P/L cCg/cTg rs748910971 IND=P2;ZYG=HET;IMPACT=MODERATE;STRAND=-1;FLAGS=cds_start_NF,cds_end_NF;SYMBOL=DOCK6;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19189;SIFT=deleterious(0);PolyPhen=probably_damaging(1);gnomAD_AF=2.809e-05;gnomAD_AFR_AF=0.0001291;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=3.54e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=3.268e-05;G2P_flag=biallelic_autosomal=HET rs748910971 19:11238188 A ENSG00000130173 ENST00000591200 Transcript intron_variant - - - - - rs748910971 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=ANGPTL8;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24933;gnomAD_AF=2.809e-05;gnomAD_AFR_AF=0.0001291;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=3.54e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=3.268e-05 rs748910971 19:11238188 A ENSG00000130158 ENST00000591750 Transcript non_coding_transcript_exon_variant 734 - - - - rs748910971 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=DOCK6;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19189;gnomAD_AF=2.809e-05;gnomAD_AFR_AF=0.0001291;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=3.54e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=3.268e-05 rs748910971 19:11238188 A ENSG00000130173 ENST00000616433 Transcript 5_prime_UTR_variant 257 - - - - rs748910971 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=ANGPTL8;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24933;gnomAD_AF=2.809e-05;gnomAD_AFR_AF=0.0001291;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=3.54e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=3.268e-05 rs989512077 19:11243373 A ENSG00000130173 ENST00000252453 Transcript downstream_gene_variant - - - - - rs989512077 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=1430;STRAND=1;SYMBOL=ANGPTL8;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24933;gnomAD_AF=0;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs989512077 19:11243373 A ENSG00000130158 ENST00000294618 Transcript missense_variant 1355 1271 424 A/V gCc/gTc rs989512077 IND=P2;ZYG=HOM;IMPACT=MODERATE;STRAND=-1;SYMBOL=DOCK6;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19189;SIFT=tolerated(0.09);PolyPhen=benign(0.04);gnomAD_AF=0;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;G2P_complete=biallelic_autosomal=HOM:19_11211872_T/C&HOM:19_11243373_G/A&HOM:19_11199515_G/C;G2P_flag=biallelic_autosomal=HOM rs989512077 19:11243373 A ENSG00000130158 ENST00000585609 Transcript downstream_gene_variant - - - - - rs989512077 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=3885;STRAND=-1;SYMBOL=DOCK6;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19189;gnomAD_AF=0;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs989512077 19:11243373 A ENSG00000130173 ENST00000587543 Transcript downstream_gene_variant - - - - - rs989512077 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=1430;STRAND=1;FLAGS=cds_start_NF;SYMBOL=ANGPTL8;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24933;gnomAD_AF=0;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs989512077 19:11243373 A ENSG00000130173 ENST00000591200 Transcript downstream_gene_variant - - - - - rs989512077 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=1555;STRAND=1;SYMBOL=ANGPTL8;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24933;gnomAD_AF=0;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs989512077 19:11243373 A ENSG00000130158 ENST00000591750 Transcript upstream_gene_variant - - - - - rs989512077 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=4452;STRAND=-1;SYMBOL=DOCK6;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19189;gnomAD_AF=0;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs989512077 19:11243373 A ENSG00000130173 ENST00000616433 Transcript downstream_gene_variant - - - - - rs989512077 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=1430;STRAND=1;SYMBOL=ANGPTL8;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24933;gnomAD_AF=0;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs754233307 19:33387885 A ENSG00000124299 ENST00000244137 Transcript splice_donor_5th_base_variant,intron_variant - - - - - rs754233307 IND=P1;ZYG=HOM;IMPACT=LOW;STRAND=-1;SYMBOL=PEPD;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8840;gnomAD_AF=0;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs754233307 19:33387885 A ENSG00000124299 ENST00000397032 Transcript splice_donor_5th_base_variant,intron_variant - - - - - rs754233307 IND=P1;ZYG=HOM;IMPACT=LOW;STRAND=-1;SYMBOL=PEPD;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8840;gnomAD_AF=0;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs754233307 19:33387885 A ENSG00000124299 ENST00000436370 Transcript splice_donor_5th_base_variant,intron_variant - - - - - rs754233307 IND=P1;ZYG=HOM;IMPACT=LOW;STRAND=-1;SYMBOL=PEPD;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8840;gnomAD_AF=0;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs754233307 19:33387885 A ENSG00000124299 ENST00000588328 Transcript splice_donor_5th_base_variant,intron_variant - - - - - rs754233307 IND=P1;ZYG=HOM;IMPACT=LOW;STRAND=-1;FLAGS=cds_start_NF;SYMBOL=PEPD;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8840;gnomAD_AF=0;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs754233307 19:33387885 A ENSG00000124299 ENST00000590731 Transcript downstream_gene_variant - - - - - rs754233307 IND=P1;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=74;STRAND=-1;SYMBOL=PEPD;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8840;gnomAD_AF=0;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs754233307 19:33387885 A ENSG00000124299 ENST00000591968 Transcript splice_donor_5th_base_variant,intron_variant,non_coding_transcript_variant - - - - - rs754233307 IND=P1;ZYG=HOM;IMPACT=LOW;STRAND=-1;SYMBOL=PEPD;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8840;gnomAD_AF=0;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs754233307 19:33387885 A ENSG00000124299 ENST00000593085 Transcript splice_donor_5th_base_variant,intron_variant,non_coding_transcript_variant - - - - - rs754233307 IND=P1;ZYG=HOM;IMPACT=LOW;STRAND=-1;SYMBOL=PEPD;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8840;gnomAD_AF=0;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs754233307 19:33387885 A ENSG00000124299 ENST00000651901 Transcript splice_donor_5th_base_variant,intron_variant - - - - - rs754233307 IND=P1;ZYG=HOM;IMPACT=LOW;STRAND=-1;FLAGS=cds_start_NF;SYMBOL=PEPD;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8840;gnomAD_AF=0;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1482765731 19:33391439 A ENSG00000124299 ENST00000244137 Transcript synonymous_variant 1039 1008 336 I atC/atT rs1482765731 IND=P1;ZYG=HOM;IMPACT=LOW;STRAND=-1;SYMBOL=PEPD;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8840;gnomAD_AF=0;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1482765731 19:33391439 A ENSG00000124299 ENST00000397032 Transcript synonymous_variant 916 885 295 I atC/atT rs1482765731 IND=P1;ZYG=HOM;IMPACT=LOW;STRAND=-1;SYMBOL=PEPD;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8840;gnomAD_AF=0;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1482765731 19:33391439 A ENSG00000124299 ENST00000436370 Transcript synonymous_variant 844 816 272 I atC/atT rs1482765731 IND=P1;ZYG=HOM;IMPACT=LOW;STRAND=-1;SYMBOL=PEPD;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8840;gnomAD_AF=0;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1482765731 19:33391439 A ENSG00000124299 ENST00000588328 Transcript synonymous_variant 1063 1065 355 I atC/atT rs1482765731 IND=P1;ZYG=HOM;IMPACT=LOW;STRAND=-1;FLAGS=cds_start_NF;SYMBOL=PEPD;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8840;gnomAD_AF=0;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1482765731 19:33391439 A ENSG00000124299 ENST00000590731 Transcript non_coding_transcript_exon_variant 683 - - - - rs1482765731 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=PEPD;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8840;gnomAD_AF=0;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1482765731 19:33391439 A ENSG00000124299 ENST00000591968 Transcript non_coding_transcript_exon_variant 80 - - - - rs1482765731 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=PEPD;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8840;gnomAD_AF=0;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1482765731 19:33391439 A ENSG00000124299 ENST00000593085 Transcript upstream_gene_variant - - - - - rs1482765731 IND=P1;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=2319;STRAND=-1;SYMBOL=PEPD;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8840;gnomAD_AF=0;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1482765731 19:33391439 A ENSG00000124299 ENST00000651901 Transcript synonymous_variant 1004 1005 335 I atC/atT rs1482765731 IND=P1;ZYG=HOM;IMPACT=LOW;STRAND=-1;FLAGS=cds_start_NF;SYMBOL=PEPD;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8840;gnomAD_AF=0;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs768628385 19:33401709 A ENSG00000124299 ENST00000244137 Transcript intron_variant - - - - - rs768628385 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=PEPD;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8840;gnomAD_AF=1.739e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0.0001397 rs768628385 19:33401709 A ENSG00000124299 ENST00000397032 Transcript intron_variant - - - - - rs768628385 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=PEPD;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8840;gnomAD_AF=1.739e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0.0001397 rs768628385 19:33401709 A ENSG00000124299 ENST00000436370 Transcript intron_variant - - - - - rs768628385 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=PEPD;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8840;gnomAD_AF=1.739e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0.0001397 rs768628385 19:33401709 A ENSG00000124299 ENST00000588328 Transcript intron_variant - - - - - rs768628385 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;FLAGS=cds_start_NF;SYMBOL=PEPD;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8840;gnomAD_AF=1.739e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0.0001397 rs768628385 19:33401709 A ENSG00000124299 ENST00000588719 Transcript downstream_gene_variant - - - - - rs768628385 IND=P1;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=130;STRAND=-1;SYMBOL=PEPD;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8840;gnomAD_AF=1.739e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0.0001397 rs768628385 19:33401709 A ENSG00000124299 ENST00000590731 Transcript intron_variant,non_coding_transcript_variant - - - - - rs768628385 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=PEPD;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8840;gnomAD_AF=1.739e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0.0001397 rs768628385 19:33401709 A ENSG00000124299 ENST00000609145 Transcript downstream_gene_variant - - - - - rs768628385 IND=P1;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=99;STRAND=-1;SYMBOL=PEPD;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8840;gnomAD_AF=1.739e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0.0001397 rs768628385 19:33401709 A ENSG00000124299 ENST00000651901 Transcript intron_variant - - - - - rs768628385 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;FLAGS=cds_start_NF;SYMBOL=PEPD;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8840;gnomAD_AF=1.739e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0.0001397 rs1263325805 19:33413668 A ENSG00000124299 ENST00000244137 Transcript intron_variant - - - - - rs1263325805 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=PEPD;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8840;gnomAD_AF=5.834e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=3.713e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1263325805 19:33413668 A ENSG00000124299 ENST00000397032 Transcript intron_variant - - - - - rs1263325805 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=PEPD;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8840;gnomAD_AF=5.834e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=3.713e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1263325805 19:33413668 A ENSG00000124299 ENST00000436370 Transcript intron_variant - - - - - rs1263325805 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=PEPD;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8840;gnomAD_AF=5.834e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=3.713e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1263325805 19:33413668 A ENSG00000124299 ENST00000588328 Transcript intron_variant - - - - - rs1263325805 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;FLAGS=cds_start_NF;SYMBOL=PEPD;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8840;gnomAD_AF=5.834e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=3.713e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1263325805 19:33413668 A ENSG00000124299 ENST00000588719 Transcript intron_variant,non_coding_transcript_variant - - - - - rs1263325805 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=PEPD;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8840;gnomAD_AF=5.834e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=3.713e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1263325805 19:33413668 A ENSG00000124299 ENST00000590731 Transcript intron_variant,non_coding_transcript_variant - - - - - rs1263325805 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=PEPD;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8840;gnomAD_AF=5.834e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=3.713e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1263325805 19:33413668 A ENSG00000124299 ENST00000609145 Transcript intron_variant,non_coding_transcript_variant - - - - - rs1263325805 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=PEPD;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8840;gnomAD_AF=5.834e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=3.713e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1263325805 19:33413668 A ENSG00000124299 ENST00000651901 Transcript intron_variant - - - - - rs1263325805 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;FLAGS=cds_start_NF;SYMBOL=PEPD;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8840;gnomAD_AF=5.834e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=3.713e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs542228812 19:33478091 A ENSG00000124299 ENST00000244137 Transcript splice_acceptor_variant - - - - - rs542228812 IND=P1;ZYG=HOM;IMPACT=HIGH;STRAND=-1;SYMBOL=PEPD;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8840;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=4.105e-06;gnomAD_AFR_AF=6.784e-05;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;PHENO=1;G2P_complete=biallelic_autosomal=HOM:19_33478091_C/A;G2P_flag=biallelic_autosomal=HOM rs542228812 19:33478091 A ENSG00000124299 ENST00000397032 Transcript splice_acceptor_variant - - - - - rs542228812 IND=P1;ZYG=HOM;IMPACT=HIGH;STRAND=-1;SYMBOL=PEPD;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8840;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=4.105e-06;gnomAD_AFR_AF=6.784e-05;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;PHENO=1;G2P_complete=biallelic_autosomal=HOM:19_33478091_C/A;G2P_flag=biallelic_autosomal=HOM rs542228812 19:33478091 A ENSG00000124299 ENST00000436370 Transcript splice_acceptor_variant - - - - - rs542228812 IND=P1;ZYG=HOM;IMPACT=HIGH;STRAND=-1;SYMBOL=PEPD;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8840;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=4.105e-06;gnomAD_AFR_AF=6.784e-05;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;PHENO=1;G2P_complete=biallelic_autosomal=HOM:19_33478091_C/A;G2P_flag=biallelic_autosomal=HOM rs542228812 19:33478091 A ENSG00000124299 ENST00000588328 Transcript splice_acceptor_variant - - - - - rs542228812 IND=P1;ZYG=HOM;IMPACT=HIGH;STRAND=-1;FLAGS=cds_start_NF;SYMBOL=PEPD;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8840;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=4.105e-06;gnomAD_AFR_AF=6.784e-05;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;PHENO=1;G2P_complete=biallelic_autosomal=HOM:19_33478091_C/A;G2P_flag=biallelic_autosomal=HOM rs542228812 19:33478091 A ENSG00000124299 ENST00000588719 Transcript splice_acceptor_variant,non_coding_transcript_variant - - - - - rs542228812 IND=P1;ZYG=HOM;IMPACT=HIGH;STRAND=-1;SYMBOL=PEPD;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8840;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=4.105e-06;gnomAD_AFR_AF=6.784e-05;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;PHENO=1;G2P_complete=biallelic_autosomal=HOM:19_33478091_C/A;G2P_flag=biallelic_autosomal=HOM rs542228812 19:33478091 A ENSG00000124299 ENST00000590408 Transcript splice_acceptor_variant,NMD_transcript_variant - - - - - rs542228812 IND=P1;ZYG=HOM;IMPACT=HIGH;STRAND=-1;FLAGS=cds_start_NF;SYMBOL=PEPD;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8840;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=4.105e-06;gnomAD_AFR_AF=6.784e-05;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;PHENO=1;G2P_complete=biallelic_autosomal=HOM:19_33478091_C/A;G2P_flag=biallelic_autosomal=HOM rs542228812 19:33478091 A ENSG00000124299 ENST00000590731 Transcript splice_acceptor_variant,non_coding_transcript_variant - - - - - rs542228812 IND=P1;ZYG=HOM;IMPACT=HIGH;STRAND=-1;SYMBOL=PEPD;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8840;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=4.105e-06;gnomAD_AFR_AF=6.784e-05;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;PHENO=1;G2P_complete=biallelic_autosomal=HOM:19_33478091_C/A;G2P_flag=biallelic_autosomal=HOM rs542228812 19:33478091 A ENSG00000124299 ENST00000590755 Transcript splice_acceptor_variant,NMD_transcript_variant - - - - - rs542228812 IND=P1;ZYG=HOM;IMPACT=HIGH;STRAND=-1;FLAGS=cds_start_NF;SYMBOL=PEPD;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8840;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=4.105e-06;gnomAD_AFR_AF=6.784e-05;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;PHENO=1;G2P_complete=biallelic_autosomal=HOM:19_33478091_C/A;G2P_flag=biallelic_autosomal=HOM rs542228812 19:33478091 A ENSG00000124299 ENST00000609145 Transcript splice_acceptor_variant,non_coding_transcript_variant - - - - - rs542228812 IND=P1;ZYG=HOM;IMPACT=HIGH;STRAND=-1;SYMBOL=PEPD;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8840;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=4.105e-06;gnomAD_AFR_AF=6.784e-05;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;PHENO=1;G2P_complete=biallelic_autosomal=HOM:19_33478091_C/A;G2P_flag=biallelic_autosomal=HOM rs542228812 19:33478091 A ENSG00000124299 ENST00000651646 Transcript splice_acceptor_variant - - - - - rs542228812 IND=P1;ZYG=HOM;IMPACT=HIGH;STRAND=-1;FLAGS=cds_start_NF;SYMBOL=PEPD;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8840;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=4.105e-06;gnomAD_AFR_AF=6.784e-05;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;PHENO=1;G2P_complete=biallelic_autosomal=HOM:19_33478091_C/A;G2P_flag=biallelic_autosomal=HOM rs542228812 19:33478091 A ENSG00000124299 ENST00000651901 Transcript splice_acceptor_variant - - - - - rs542228812 IND=P1;ZYG=HOM;IMPACT=HIGH;STRAND=-1;FLAGS=cds_start_NF;SYMBOL=PEPD;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8840;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=4.105e-06;gnomAD_AFR_AF=6.784e-05;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;PHENO=1;G2P_complete=biallelic_autosomal=HOM:19_33478091_C/A;G2P_flag=biallelic_autosomal=HOM rs767306239 19:33521746 A ENSG00000124299 ENST00000244137 Transcript splice_region_variant,synonymous_variant 46 15 5 T acC/acT rs767306239 IND=P1;ZYG=HOM;IMPACT=LOW;STRAND=-1;SYMBOL=PEPD;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8840;gnomAD_AF=1.654e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=3.284e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=1.297e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=3.955e-05 rs767306239 19:33521746 A ENSG00000124299 ENST00000397032 Transcript splice_region_variant,synonymous_variant 46 15 5 T acC/acT rs767306239 IND=P1;ZYG=HOM;IMPACT=LOW;STRAND=-1;SYMBOL=PEPD;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8840;gnomAD_AF=1.654e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=3.284e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=1.297e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=3.955e-05 rs767306239 19:33521746 A ENSG00000124299 ENST00000436370 Transcript splice_region_variant,synonymous_variant 43 15 5 T acC/acT rs767306239 IND=P1;ZYG=HOM;IMPACT=LOW;STRAND=-1;SYMBOL=PEPD;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8840;gnomAD_AF=1.654e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=3.284e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=1.297e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=3.955e-05 rs767306239 19:33521746 A ENSG00000124299 ENST00000588328 Transcript splice_region_variant,synonymous_variant 4 6 2 T acC/acT rs767306239 IND=P1;ZYG=HOM;IMPACT=LOW;STRAND=-1;FLAGS=cds_start_NF;SYMBOL=PEPD;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8840;gnomAD_AF=1.654e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=3.284e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=1.297e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=3.955e-05 rs767306239 19:33521746 A ENSG00000124299 ENST00000651646 Transcript splice_region_variant,synonymous_variant 13 15 5 T acC/acT rs767306239 IND=P1;ZYG=HOM;IMPACT=LOW;STRAND=-1;FLAGS=cds_start_NF;SYMBOL=PEPD;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8840;gnomAD_AF=1.654e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=3.284e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=1.297e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=3.955e-05 rs767306239 19:33521746 A ENSG00000124299 ENST00000651901 Transcript splice_region_variant,synonymous_variant 11 12 4 T acC/acT rs767306239 IND=P1;ZYG=HOM;IMPACT=LOW;STRAND=-1;FLAGS=cds_start_NF;SYMBOL=PEPD;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8840;gnomAD_AF=1.654e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=3.284e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=1.297e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=3.955e-05 rs566132261 19:49488045 A ENSG00000090554 ENST00000204637 Transcript downstream_gene_variant - - - - - rs566132261 IND=P1;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=1814;STRAND=1;SYMBOL=FLT3LG;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3766;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs566132261 19:49488045 A ENSG00000199631 ENST00000362761 Transcript upstream_gene_variant - - - - - rs566132261 IND=P1;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=2570;STRAND=1;SYMBOL=SNORD33;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10160;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs566132261 19:49488045 A ENSG00000200259 ENST00000363389 Transcript upstream_gene_variant - - - - - rs566132261 IND=P1;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=3130;STRAND=1;SYMBOL=SNORD35A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10162;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs566132261 19:49488045 A ENSG00000201675 ENST00000364805 Transcript upstream_gene_variant - - - - - rs566132261 IND=P1;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=1920;STRAND=1;SYMBOL=SNORD32A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10159;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs566132261 19:49488045 A ENSG00000202503 ENST00000365633 Transcript upstream_gene_variant - - - - - rs566132261 IND=P1;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=2859;STRAND=1;SYMBOL=SNORD34;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10161;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs566132261 19:49488045 A ENSG00000142541 ENST00000391857 Transcript intron_variant - - - - - rs566132261 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs566132261 19:49488045 A ENSG00000142541 ENST00000467825 Transcript intron_variant - - - - - rs566132261 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_start_NF;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs566132261 19:49488045 A ENSG00000142541 ENST00000468655 Transcript upstream_gene_variant - - - - - rs566132261 IND=P1;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=2600;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs566132261 19:49488045 A ENSG00000142541 ENST00000472481 Transcript intron_variant,non_coding_transcript_variant - - - - - rs566132261 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs566132261 19:49488045 A ENSG00000142541 ENST00000474171 Transcript upstream_gene_variant - - - - - rs566132261 IND=P1;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=2484;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs566132261 19:49488045 A ENSG00000142541 ENST00000476268 Transcript upstream_gene_variant - - - - - rs566132261 IND=P1;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=1805;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs566132261 19:49488045 A ENSG00000142541 ENST00000476300 Transcript upstream_gene_variant - - - - - rs566132261 IND=P1;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=2795;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs566132261 19:49488045 A ENSG00000142541 ENST00000477613 Transcript intron_variant,non_coding_transcript_variant - - - - - rs566132261 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs566132261 19:49488045 A ENSG00000142541 ENST00000479992 Transcript intron_variant,non_coding_transcript_variant - - - - - rs566132261 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs566132261 19:49488045 A ENSG00000142541 ENST00000484279 Transcript intron_variant,NMD_transcript_variant - - - - - rs566132261 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs566132261 19:49488045 A ENSG00000142541 ENST00000486930 Transcript intron_variant,non_coding_transcript_variant - - - - - rs566132261 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs566132261 19:49488045 A ENSG00000142541 ENST00000488946 Transcript intron_variant,non_coding_transcript_variant - - - - - rs566132261 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs566132261 19:49488045 A ENSG00000090554 ENST00000594009 Transcript downstream_gene_variant - - - - - rs566132261 IND=P1;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=1814;STRAND=1;SYMBOL=FLT3LG;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3766;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs566132261 19:49488045 A ENSG00000273189 ENST00000595815 Transcript downstream_gene_variant - - - - - rs566132261 IND=P1;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=408;STRAND=1;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs566132261 19:49488045 A ENSG00000090554 ENST00000596435 Transcript downstream_gene_variant - - - - - rs566132261 IND=P1;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=1814;STRAND=1;SYMBOL=FLT3LG;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3766;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs566132261 19:49488045 A ENSG00000090554 ENST00000597551 Transcript downstream_gene_variant - - - - - rs566132261 IND=P1;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=1814;STRAND=1;SYMBOL=FLT3LG;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3766;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs566132261 19:49488045 A ENSG00000090554 ENST00000598472 Transcript downstream_gene_variant - - - - - rs566132261 IND=P1;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=2016;STRAND=1;SYMBOL=FLT3LG;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3766;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs566132261 19:49488045 A ENSG00000090554 ENST00000598555 Transcript downstream_gene_variant - - - - - rs566132261 IND=P1;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=1814;STRAND=1;FLAGS=cds_start_NF;SYMBOL=FLT3LG;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3766;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs566132261 19:49488045 A ENSG00000269469 ENST00000599536 Transcript downstream_gene_variant - - - - - rs566132261 IND=P1;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=1814;STRAND=1;FLAGS=cds_start_NF;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs566132261 19:49488045 A ENSG00000090554 ENST00000600084 Transcript downstream_gene_variant - - - - - rs566132261 IND=P1;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=1814;STRAND=1;SYMBOL=FLT3LG;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3766;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs566132261 19:49488045 A ENSG00000090554 ENST00000600429 Transcript downstream_gene_variant - - - - - rs566132261 IND=P1;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=1894;STRAND=1;SYMBOL=FLT3LG;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3766;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs566132261 19:49488045 A ENSG00000090554 ENST00000601800 Transcript downstream_gene_variant - - - - - rs566132261 IND=P1;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=1814;STRAND=1;SYMBOL=FLT3LG;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3766;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs566132261 19:49488045 A ENSG00000142541 ENST00000621674 Transcript intron_variant - - - - - rs566132261 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs566132261 19:49488045 A ENSG00000142541 ENST00000624069 Transcript intron_variant,NMD_transcript_variant - - - - - rs566132261 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs566132261 19:49488045 A ENSG00000142541 ENST00000676477 Transcript intron_variant,non_coding_transcript_variant - - - - - rs566132261 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs566132261 19:49488045 A ENSG00000142541 ENST00000676556 Transcript intron_variant,non_coding_transcript_variant - - - - - rs566132261 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs566132261 19:49488045 A ENSG00000142541 ENST00000677048 Transcript intron_variant,non_coding_transcript_variant - - - - - rs566132261 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs566132261 19:49488045 A ENSG00000142541 ENST00000678146 Transcript intron_variant,non_coding_transcript_variant - - - - - rs566132261 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs566132261 19:49488045 A ENSG00000142541 ENST00000678187 Transcript upstream_gene_variant - - - - - rs566132261 IND=P1;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=1739;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs566132261 19:49488045 A ENSG00000142541 ENST00000678510 Transcript intron_variant - - - - - rs566132261 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs566132261 19:49488045 A ENSG00000142541 ENST00000678713 Transcript upstream_gene_variant - - - - - rs566132261 IND=P1;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=1818;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs566132261 19:49488045 A ENSG00000142541 ENST00000679106 Transcript intron_variant - - - - - rs566132261 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs531313248 19:49488213 T ENSG00000090554 ENST00000204637 Transcript downstream_gene_variant - - - - - rs531313248 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=1982;STRAND=1;SYMBOL=FLT3LG;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3766;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs531313248 19:49488213 T ENSG00000199631 ENST00000362761 Transcript upstream_gene_variant - - - - - rs531313248 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=2402;STRAND=1;SYMBOL=SNORD33;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10160;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs531313248 19:49488213 T ENSG00000200259 ENST00000363389 Transcript upstream_gene_variant - - - - - rs531313248 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=2962;STRAND=1;SYMBOL=SNORD35A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10162;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs531313248 19:49488213 T ENSG00000201675 ENST00000364805 Transcript upstream_gene_variant - - - - - rs531313248 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=1752;STRAND=1;SYMBOL=SNORD32A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10159;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs531313248 19:49488213 T ENSG00000202503 ENST00000365633 Transcript upstream_gene_variant - - - - - rs531313248 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=2691;STRAND=1;SYMBOL=SNORD34;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10161;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs531313248 19:49488213 T ENSG00000142541 ENST00000391857 Transcript intron_variant - - - - - rs531313248 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs531313248 19:49488213 T ENSG00000142541 ENST00000467825 Transcript intron_variant - - - - - rs531313248 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_start_NF;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs531313248 19:49488213 T ENSG00000142541 ENST00000468655 Transcript upstream_gene_variant - - - - - rs531313248 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=2432;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs531313248 19:49488213 T ENSG00000142541 ENST00000472481 Transcript intron_variant,non_coding_transcript_variant - - - - - rs531313248 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs531313248 19:49488213 T ENSG00000142541 ENST00000474171 Transcript upstream_gene_variant - - - - - rs531313248 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=2316;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs531313248 19:49488213 T ENSG00000142541 ENST00000476268 Transcript upstream_gene_variant - - - - - rs531313248 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=1637;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs531313248 19:49488213 T ENSG00000142541 ENST00000476300 Transcript upstream_gene_variant - - - - - rs531313248 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=2627;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs531313248 19:49488213 T ENSG00000142541 ENST00000477613 Transcript intron_variant,non_coding_transcript_variant - - - - - rs531313248 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs531313248 19:49488213 T ENSG00000142541 ENST00000479992 Transcript intron_variant,non_coding_transcript_variant - - - - - rs531313248 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs531313248 19:49488213 T ENSG00000142541 ENST00000484279 Transcript intron_variant,NMD_transcript_variant - - - - - rs531313248 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs531313248 19:49488213 T ENSG00000142541 ENST00000486930 Transcript intron_variant,non_coding_transcript_variant - - - - - rs531313248 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs531313248 19:49488213 T ENSG00000142541 ENST00000488946 Transcript intron_variant,non_coding_transcript_variant - - - - - rs531313248 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs531313248 19:49488213 T ENSG00000090554 ENST00000594009 Transcript downstream_gene_variant - - - - - rs531313248 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=1982;STRAND=1;SYMBOL=FLT3LG;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3766;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs531313248 19:49488213 T ENSG00000273189 ENST00000595815 Transcript downstream_gene_variant - - - - - rs531313248 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=576;STRAND=1;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs531313248 19:49488213 T ENSG00000090554 ENST00000596435 Transcript downstream_gene_variant - - - - - rs531313248 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=1982;STRAND=1;SYMBOL=FLT3LG;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3766;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs531313248 19:49488213 T ENSG00000090554 ENST00000597551 Transcript downstream_gene_variant - - - - - rs531313248 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=1982;STRAND=1;SYMBOL=FLT3LG;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3766;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs531313248 19:49488213 T ENSG00000090554 ENST00000598472 Transcript downstream_gene_variant - - - - - rs531313248 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=2184;STRAND=1;SYMBOL=FLT3LG;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3766;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs531313248 19:49488213 T ENSG00000090554 ENST00000598555 Transcript downstream_gene_variant - - - - - rs531313248 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=1982;STRAND=1;FLAGS=cds_start_NF;SYMBOL=FLT3LG;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3766;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs531313248 19:49488213 T ENSG00000269469 ENST00000599536 Transcript downstream_gene_variant - - - - - rs531313248 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=1982;STRAND=1;FLAGS=cds_start_NF;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs531313248 19:49488213 T ENSG00000090554 ENST00000600084 Transcript downstream_gene_variant - - - - - rs531313248 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=1982;STRAND=1;SYMBOL=FLT3LG;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3766;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs531313248 19:49488213 T ENSG00000090554 ENST00000600429 Transcript downstream_gene_variant - - - - - rs531313248 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=2062;STRAND=1;SYMBOL=FLT3LG;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3766;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs531313248 19:49488213 T ENSG00000090554 ENST00000601800 Transcript downstream_gene_variant - - - - - rs531313248 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=1982;STRAND=1;SYMBOL=FLT3LG;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3766;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs531313248 19:49488213 T ENSG00000142541 ENST00000621674 Transcript intron_variant - - - - - rs531313248 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs531313248 19:49488213 T ENSG00000142541 ENST00000624069 Transcript intron_variant,NMD_transcript_variant - - - - - rs531313248 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs531313248 19:49488213 T ENSG00000142541 ENST00000676477 Transcript intron_variant,non_coding_transcript_variant - - - - - rs531313248 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs531313248 19:49488213 T ENSG00000142541 ENST00000676556 Transcript intron_variant,non_coding_transcript_variant - - - - - rs531313248 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs531313248 19:49488213 T ENSG00000142541 ENST00000677048 Transcript intron_variant,non_coding_transcript_variant - - - - - rs531313248 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs531313248 19:49488213 T ENSG00000142541 ENST00000678146 Transcript intron_variant,non_coding_transcript_variant - - - - - rs531313248 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs531313248 19:49488213 T ENSG00000142541 ENST00000678187 Transcript upstream_gene_variant - - - - - rs531313248 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=1571;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs531313248 19:49488213 T ENSG00000142541 ENST00000678510 Transcript intron_variant - - - - - rs531313248 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs531313248 19:49488213 T ENSG00000142541 ENST00000678713 Transcript upstream_gene_variant - - - - - rs531313248 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=1650;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs531313248 19:49488213 T ENSG00000142541 ENST00000679106 Transcript intron_variant - - - - - rs531313248 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs78155281 19:49488370 A ENSG00000090554 ENST00000204637 Transcript downstream_gene_variant - - - - - rs78155281 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2139;STRAND=1;SYMBOL=FLT3LG;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3766;AF=0.0020;AFR_AF=0;AMR_AF=0;EAS_AF=0.0079;EUR_AF=0;SAS_AF=0.002 rs78155281 19:49488370 A ENSG00000199631 ENST00000362761 Transcript upstream_gene_variant - - - - - rs78155281 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2245;STRAND=1;SYMBOL=SNORD33;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10160;AF=0.0020;AFR_AF=0;AMR_AF=0;EAS_AF=0.0079;EUR_AF=0;SAS_AF=0.002 rs78155281 19:49488370 A ENSG00000200259 ENST00000363389 Transcript upstream_gene_variant - - - - - rs78155281 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2805;STRAND=1;SYMBOL=SNORD35A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10162;AF=0.0020;AFR_AF=0;AMR_AF=0;EAS_AF=0.0079;EUR_AF=0;SAS_AF=0.002 rs78155281 19:49488370 A ENSG00000201675 ENST00000364805 Transcript upstream_gene_variant - - - - - rs78155281 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1595;STRAND=1;SYMBOL=SNORD32A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10159;AF=0.0020;AFR_AF=0;AMR_AF=0;EAS_AF=0.0079;EUR_AF=0;SAS_AF=0.002 rs78155281 19:49488370 A ENSG00000202503 ENST00000365633 Transcript upstream_gene_variant - - - - - rs78155281 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2534;STRAND=1;SYMBOL=SNORD34;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10161;AF=0.0020;AFR_AF=0;AMR_AF=0;EAS_AF=0.0079;EUR_AF=0;SAS_AF=0.002 rs78155281 19:49488370 A ENSG00000142541 ENST00000391857 Transcript intron_variant - - - - - rs78155281 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0020;AFR_AF=0;AMR_AF=0;EAS_AF=0.0079;EUR_AF=0;SAS_AF=0.002 rs78155281 19:49488370 A ENSG00000142541 ENST00000467825 Transcript intron_variant - - - - - rs78155281 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_start_NF;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0020;AFR_AF=0;AMR_AF=0;EAS_AF=0.0079;EUR_AF=0;SAS_AF=0.002 rs78155281 19:49488370 A ENSG00000142541 ENST00000468655 Transcript upstream_gene_variant - - - - - rs78155281 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2275;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0020;AFR_AF=0;AMR_AF=0;EAS_AF=0.0079;EUR_AF=0;SAS_AF=0.002 rs78155281 19:49488370 A ENSG00000142541 ENST00000472481 Transcript intron_variant,non_coding_transcript_variant - - - - - rs78155281 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0020;AFR_AF=0;AMR_AF=0;EAS_AF=0.0079;EUR_AF=0;SAS_AF=0.002 rs78155281 19:49488370 A ENSG00000142541 ENST00000474171 Transcript upstream_gene_variant - - - - - rs78155281 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2159;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0020;AFR_AF=0;AMR_AF=0;EAS_AF=0.0079;EUR_AF=0;SAS_AF=0.002 rs78155281 19:49488370 A ENSG00000142541 ENST00000476268 Transcript upstream_gene_variant - - - - - rs78155281 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1480;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0020;AFR_AF=0;AMR_AF=0;EAS_AF=0.0079;EUR_AF=0;SAS_AF=0.002 rs78155281 19:49488370 A ENSG00000142541 ENST00000476300 Transcript upstream_gene_variant - - - - - rs78155281 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2470;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0020;AFR_AF=0;AMR_AF=0;EAS_AF=0.0079;EUR_AF=0;SAS_AF=0.002 rs78155281 19:49488370 A ENSG00000142541 ENST00000477613 Transcript intron_variant,non_coding_transcript_variant - - - - - rs78155281 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0020;AFR_AF=0;AMR_AF=0;EAS_AF=0.0079;EUR_AF=0;SAS_AF=0.002 rs78155281 19:49488370 A ENSG00000142541 ENST00000479992 Transcript intron_variant,non_coding_transcript_variant - - - - - rs78155281 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0020;AFR_AF=0;AMR_AF=0;EAS_AF=0.0079;EUR_AF=0;SAS_AF=0.002 rs78155281 19:49488370 A ENSG00000142541 ENST00000484279 Transcript intron_variant,NMD_transcript_variant - - - - - rs78155281 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0020;AFR_AF=0;AMR_AF=0;EAS_AF=0.0079;EUR_AF=0;SAS_AF=0.002 rs78155281 19:49488370 A ENSG00000142541 ENST00000486930 Transcript intron_variant,non_coding_transcript_variant - - - - - rs78155281 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0020;AFR_AF=0;AMR_AF=0;EAS_AF=0.0079;EUR_AF=0;SAS_AF=0.002 rs78155281 19:49488370 A ENSG00000142541 ENST00000488946 Transcript intron_variant,non_coding_transcript_variant - - - - - rs78155281 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0020;AFR_AF=0;AMR_AF=0;EAS_AF=0.0079;EUR_AF=0;SAS_AF=0.002 rs78155281 19:49488370 A ENSG00000090554 ENST00000594009 Transcript downstream_gene_variant - - - - - rs78155281 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2139;STRAND=1;SYMBOL=FLT3LG;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3766;AF=0.0020;AFR_AF=0;AMR_AF=0;EAS_AF=0.0079;EUR_AF=0;SAS_AF=0.002 rs78155281 19:49488370 A ENSG00000273189 ENST00000595815 Transcript downstream_gene_variant - - - - - rs78155281 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=733;STRAND=1;AF=0.0020;AFR_AF=0;AMR_AF=0;EAS_AF=0.0079;EUR_AF=0;SAS_AF=0.002 rs78155281 19:49488370 A ENSG00000090554 ENST00000596435 Transcript downstream_gene_variant - - - - - rs78155281 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2139;STRAND=1;SYMBOL=FLT3LG;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3766;AF=0.0020;AFR_AF=0;AMR_AF=0;EAS_AF=0.0079;EUR_AF=0;SAS_AF=0.002 rs78155281 19:49488370 A ENSG00000090554 ENST00000597551 Transcript downstream_gene_variant - - - - - rs78155281 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2139;STRAND=1;SYMBOL=FLT3LG;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3766;AF=0.0020;AFR_AF=0;AMR_AF=0;EAS_AF=0.0079;EUR_AF=0;SAS_AF=0.002 rs78155281 19:49488370 A ENSG00000090554 ENST00000598472 Transcript downstream_gene_variant - - - - - rs78155281 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2341;STRAND=1;SYMBOL=FLT3LG;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3766;AF=0.0020;AFR_AF=0;AMR_AF=0;EAS_AF=0.0079;EUR_AF=0;SAS_AF=0.002 rs78155281 19:49488370 A ENSG00000090554 ENST00000598555 Transcript downstream_gene_variant - - - - - rs78155281 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2139;STRAND=1;FLAGS=cds_start_NF;SYMBOL=FLT3LG;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3766;AF=0.0020;AFR_AF=0;AMR_AF=0;EAS_AF=0.0079;EUR_AF=0;SAS_AF=0.002 rs78155281 19:49488370 A ENSG00000269469 ENST00000599536 Transcript downstream_gene_variant - - - - - rs78155281 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2139;STRAND=1;FLAGS=cds_start_NF;AF=0.0020;AFR_AF=0;AMR_AF=0;EAS_AF=0.0079;EUR_AF=0;SAS_AF=0.002 rs78155281 19:49488370 A ENSG00000090554 ENST00000600084 Transcript downstream_gene_variant - - - - - rs78155281 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2139;STRAND=1;SYMBOL=FLT3LG;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3766;AF=0.0020;AFR_AF=0;AMR_AF=0;EAS_AF=0.0079;EUR_AF=0;SAS_AF=0.002 rs78155281 19:49488370 A ENSG00000090554 ENST00000600429 Transcript downstream_gene_variant - - - - - rs78155281 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2219;STRAND=1;SYMBOL=FLT3LG;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3766;AF=0.0020;AFR_AF=0;AMR_AF=0;EAS_AF=0.0079;EUR_AF=0;SAS_AF=0.002 rs78155281 19:49488370 A ENSG00000090554 ENST00000601800 Transcript downstream_gene_variant - - - - - rs78155281 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2139;STRAND=1;SYMBOL=FLT3LG;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3766;AF=0.0020;AFR_AF=0;AMR_AF=0;EAS_AF=0.0079;EUR_AF=0;SAS_AF=0.002 rs78155281 19:49488370 A ENSG00000142541 ENST00000621674 Transcript intron_variant - - - - - rs78155281 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0020;AFR_AF=0;AMR_AF=0;EAS_AF=0.0079;EUR_AF=0;SAS_AF=0.002 rs78155281 19:49488370 A ENSG00000142541 ENST00000624069 Transcript intron_variant,NMD_transcript_variant - - - - - rs78155281 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0020;AFR_AF=0;AMR_AF=0;EAS_AF=0.0079;EUR_AF=0;SAS_AF=0.002 rs78155281 19:49488370 A ENSG00000142541 ENST00000676477 Transcript intron_variant,non_coding_transcript_variant - - - - - rs78155281 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0020;AFR_AF=0;AMR_AF=0;EAS_AF=0.0079;EUR_AF=0;SAS_AF=0.002 rs78155281 19:49488370 A ENSG00000142541 ENST00000676556 Transcript intron_variant,non_coding_transcript_variant - - - - - rs78155281 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0020;AFR_AF=0;AMR_AF=0;EAS_AF=0.0079;EUR_AF=0;SAS_AF=0.002 rs78155281 19:49488370 A ENSG00000142541 ENST00000677048 Transcript intron_variant,non_coding_transcript_variant - - - - - rs78155281 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0020;AFR_AF=0;AMR_AF=0;EAS_AF=0.0079;EUR_AF=0;SAS_AF=0.002 rs78155281 19:49488370 A ENSG00000142541 ENST00000678146 Transcript intron_variant,non_coding_transcript_variant - - - - - rs78155281 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0020;AFR_AF=0;AMR_AF=0;EAS_AF=0.0079;EUR_AF=0;SAS_AF=0.002 rs78155281 19:49488370 A ENSG00000142541 ENST00000678187 Transcript upstream_gene_variant - - - - - rs78155281 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1414;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0020;AFR_AF=0;AMR_AF=0;EAS_AF=0.0079;EUR_AF=0;SAS_AF=0.002 rs78155281 19:49488370 A ENSG00000142541 ENST00000678510 Transcript intron_variant - - - - - rs78155281 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0020;AFR_AF=0;AMR_AF=0;EAS_AF=0.0079;EUR_AF=0;SAS_AF=0.002 rs78155281 19:49488370 A ENSG00000142541 ENST00000678713 Transcript upstream_gene_variant - - - - - rs78155281 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1493;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0020;AFR_AF=0;AMR_AF=0;EAS_AF=0.0079;EUR_AF=0;SAS_AF=0.002 rs78155281 19:49488370 A ENSG00000142541 ENST00000679106 Transcript intron_variant - - - - - rs78155281 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0020;AFR_AF=0;AMR_AF=0;EAS_AF=0.0079;EUR_AF=0;SAS_AF=0.002 rs114262775 19:49488465 A ENSG00000090554 ENST00000204637 Transcript downstream_gene_variant - - - - - rs114262775 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=2234;STRAND=1;SYMBOL=FLT3LG;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3766;AF=0.0008;AFR_AF=0.003;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs114262775 19:49488465 A ENSG00000199631 ENST00000362761 Transcript upstream_gene_variant - - - - - rs114262775 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=2150;STRAND=1;SYMBOL=SNORD33;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10160;AF=0.0008;AFR_AF=0.003;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs114262775 19:49488465 A ENSG00000200259 ENST00000363389 Transcript upstream_gene_variant - - - - - rs114262775 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=2710;STRAND=1;SYMBOL=SNORD35A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10162;AF=0.0008;AFR_AF=0.003;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs114262775 19:49488465 A ENSG00000201675 ENST00000364805 Transcript upstream_gene_variant - - - - - rs114262775 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=1500;STRAND=1;SYMBOL=SNORD32A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10159;AF=0.0008;AFR_AF=0.003;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs114262775 19:49488465 A ENSG00000202503 ENST00000365633 Transcript upstream_gene_variant - - - - - rs114262775 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=2439;STRAND=1;SYMBOL=SNORD34;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10161;AF=0.0008;AFR_AF=0.003;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs114262775 19:49488465 A ENSG00000142541 ENST00000391857 Transcript intron_variant - - - - - rs114262775 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0008;AFR_AF=0.003;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs114262775 19:49488465 A ENSG00000142541 ENST00000467825 Transcript intron_variant - - - - - rs114262775 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_start_NF;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0008;AFR_AF=0.003;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs114262775 19:49488465 A ENSG00000142541 ENST00000468655 Transcript upstream_gene_variant - - - - - rs114262775 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=2180;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0008;AFR_AF=0.003;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs114262775 19:49488465 A ENSG00000142541 ENST00000472481 Transcript intron_variant,non_coding_transcript_variant - - - - - rs114262775 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0008;AFR_AF=0.003;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs114262775 19:49488465 A ENSG00000142541 ENST00000474171 Transcript upstream_gene_variant - - - - - rs114262775 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=2064;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0008;AFR_AF=0.003;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs114262775 19:49488465 A ENSG00000142541 ENST00000476268 Transcript upstream_gene_variant - - - - - rs114262775 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=1385;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0008;AFR_AF=0.003;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs114262775 19:49488465 A ENSG00000142541 ENST00000476300 Transcript upstream_gene_variant - - - - - rs114262775 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=2375;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0008;AFR_AF=0.003;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs114262775 19:49488465 A ENSG00000142541 ENST00000477613 Transcript intron_variant,non_coding_transcript_variant - - - - - rs114262775 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0008;AFR_AF=0.003;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs114262775 19:49488465 A ENSG00000142541 ENST00000479992 Transcript intron_variant,non_coding_transcript_variant - - - - - rs114262775 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0008;AFR_AF=0.003;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs114262775 19:49488465 A ENSG00000142541 ENST00000484279 Transcript intron_variant,NMD_transcript_variant - - - - - rs114262775 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0008;AFR_AF=0.003;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs114262775 19:49488465 A ENSG00000142541 ENST00000486930 Transcript intron_variant,non_coding_transcript_variant - - - - - rs114262775 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0008;AFR_AF=0.003;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs114262775 19:49488465 A ENSG00000142541 ENST00000488946 Transcript intron_variant,non_coding_transcript_variant - - - - - rs114262775 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0008;AFR_AF=0.003;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs114262775 19:49488465 A ENSG00000090554 ENST00000594009 Transcript downstream_gene_variant - - - - - rs114262775 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=2234;STRAND=1;SYMBOL=FLT3LG;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3766;AF=0.0008;AFR_AF=0.003;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs114262775 19:49488465 A ENSG00000273189 ENST00000595815 Transcript downstream_gene_variant - - - - - rs114262775 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=828;STRAND=1;AF=0.0008;AFR_AF=0.003;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs114262775 19:49488465 A ENSG00000090554 ENST00000596435 Transcript downstream_gene_variant - - - - - rs114262775 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=2234;STRAND=1;SYMBOL=FLT3LG;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3766;AF=0.0008;AFR_AF=0.003;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs114262775 19:49488465 A ENSG00000090554 ENST00000597551 Transcript downstream_gene_variant - - - - - rs114262775 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=2234;STRAND=1;SYMBOL=FLT3LG;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3766;AF=0.0008;AFR_AF=0.003;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs114262775 19:49488465 A ENSG00000090554 ENST00000598472 Transcript downstream_gene_variant - - - - - rs114262775 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=2436;STRAND=1;SYMBOL=FLT3LG;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3766;AF=0.0008;AFR_AF=0.003;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs114262775 19:49488465 A ENSG00000090554 ENST00000598555 Transcript downstream_gene_variant - - - - - rs114262775 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=2234;STRAND=1;FLAGS=cds_start_NF;SYMBOL=FLT3LG;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3766;AF=0.0008;AFR_AF=0.003;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs114262775 19:49488465 A ENSG00000269469 ENST00000599536 Transcript downstream_gene_variant - - - - - rs114262775 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=2234;STRAND=1;FLAGS=cds_start_NF;AF=0.0008;AFR_AF=0.003;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs114262775 19:49488465 A ENSG00000090554 ENST00000600084 Transcript downstream_gene_variant - - - - - rs114262775 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=2234;STRAND=1;SYMBOL=FLT3LG;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3766;AF=0.0008;AFR_AF=0.003;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs114262775 19:49488465 A ENSG00000090554 ENST00000600429 Transcript downstream_gene_variant - - - - - rs114262775 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=2314;STRAND=1;SYMBOL=FLT3LG;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3766;AF=0.0008;AFR_AF=0.003;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs114262775 19:49488465 A ENSG00000090554 ENST00000601800 Transcript downstream_gene_variant - - - - - rs114262775 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=2234;STRAND=1;SYMBOL=FLT3LG;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3766;AF=0.0008;AFR_AF=0.003;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs114262775 19:49488465 A ENSG00000142541 ENST00000621674 Transcript intron_variant - - - - - rs114262775 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0008;AFR_AF=0.003;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs114262775 19:49488465 A ENSG00000142541 ENST00000624069 Transcript intron_variant,NMD_transcript_variant - - - - - rs114262775 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0008;AFR_AF=0.003;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs114262775 19:49488465 A ENSG00000142541 ENST00000676477 Transcript intron_variant,non_coding_transcript_variant - - - - - rs114262775 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0008;AFR_AF=0.003;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs114262775 19:49488465 A ENSG00000142541 ENST00000676556 Transcript intron_variant,non_coding_transcript_variant - - - - - rs114262775 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0008;AFR_AF=0.003;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs114262775 19:49488465 A ENSG00000142541 ENST00000677048 Transcript intron_variant,non_coding_transcript_variant - - - - - rs114262775 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0008;AFR_AF=0.003;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs114262775 19:49488465 A ENSG00000142541 ENST00000678146 Transcript intron_variant,non_coding_transcript_variant - - - - - rs114262775 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0008;AFR_AF=0.003;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs114262775 19:49488465 A ENSG00000142541 ENST00000678187 Transcript upstream_gene_variant - - - - - rs114262775 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=1319;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0008;AFR_AF=0.003;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs114262775 19:49488465 A ENSG00000142541 ENST00000678510 Transcript intron_variant - - - - - rs114262775 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0008;AFR_AF=0.003;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs114262775 19:49488465 A ENSG00000142541 ENST00000678713 Transcript upstream_gene_variant - - - - - rs114262775 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=1398;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0008;AFR_AF=0.003;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs114262775 19:49488465 A ENSG00000142541 ENST00000679106 Transcript intron_variant - - - - - rs114262775 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0008;AFR_AF=0.003;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs531218169 19:49488501 G ENSG00000090554 ENST00000204637 Transcript downstream_gene_variant - - - - - rs531218169 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2270;STRAND=1;SYMBOL=FLT3LG;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3766;AF=0.0006;AFR_AF=0.0023;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs531218169 19:49488501 G ENSG00000199631 ENST00000362761 Transcript upstream_gene_variant - - - - - rs531218169 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2114;STRAND=1;SYMBOL=SNORD33;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10160;AF=0.0006;AFR_AF=0.0023;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs531218169 19:49488501 G ENSG00000200259 ENST00000363389 Transcript upstream_gene_variant - - - - - rs531218169 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2674;STRAND=1;SYMBOL=SNORD35A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10162;AF=0.0006;AFR_AF=0.0023;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs531218169 19:49488501 G ENSG00000201675 ENST00000364805 Transcript upstream_gene_variant - - - - - rs531218169 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1464;STRAND=1;SYMBOL=SNORD32A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10159;AF=0.0006;AFR_AF=0.0023;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs531218169 19:49488501 G ENSG00000202503 ENST00000365633 Transcript upstream_gene_variant - - - - - rs531218169 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2403;STRAND=1;SYMBOL=SNORD34;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10161;AF=0.0006;AFR_AF=0.0023;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs531218169 19:49488501 G ENSG00000142541 ENST00000391857 Transcript intron_variant - - - - - rs531218169 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0006;AFR_AF=0.0023;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs531218169 19:49488501 G ENSG00000142541 ENST00000467825 Transcript intron_variant - - - - - rs531218169 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_start_NF;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0006;AFR_AF=0.0023;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs531218169 19:49488501 G ENSG00000142541 ENST00000468655 Transcript upstream_gene_variant - - - - - rs531218169 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2144;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0006;AFR_AF=0.0023;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs531218169 19:49488501 G ENSG00000142541 ENST00000472481 Transcript intron_variant,non_coding_transcript_variant - - - - - rs531218169 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0006;AFR_AF=0.0023;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs531218169 19:49488501 G ENSG00000142541 ENST00000474171 Transcript upstream_gene_variant - - - - - rs531218169 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2028;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0006;AFR_AF=0.0023;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs531218169 19:49488501 G ENSG00000142541 ENST00000476268 Transcript upstream_gene_variant - - - - - rs531218169 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1349;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0006;AFR_AF=0.0023;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs531218169 19:49488501 G ENSG00000142541 ENST00000476300 Transcript upstream_gene_variant - - - - - rs531218169 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2339;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0006;AFR_AF=0.0023;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs531218169 19:49488501 G ENSG00000142541 ENST00000477613 Transcript intron_variant,non_coding_transcript_variant - - - - - rs531218169 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0006;AFR_AF=0.0023;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs531218169 19:49488501 G ENSG00000142541 ENST00000479992 Transcript intron_variant,non_coding_transcript_variant - - - - - rs531218169 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0006;AFR_AF=0.0023;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs531218169 19:49488501 G ENSG00000142541 ENST00000484279 Transcript intron_variant,NMD_transcript_variant - - - - - rs531218169 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0006;AFR_AF=0.0023;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs531218169 19:49488501 G ENSG00000142541 ENST00000486930 Transcript intron_variant,non_coding_transcript_variant - - - - - rs531218169 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0006;AFR_AF=0.0023;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs531218169 19:49488501 G ENSG00000142541 ENST00000488946 Transcript intron_variant,non_coding_transcript_variant - - - - - rs531218169 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0006;AFR_AF=0.0023;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs531218169 19:49488501 G ENSG00000090554 ENST00000594009 Transcript downstream_gene_variant - - - - - rs531218169 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2270;STRAND=1;SYMBOL=FLT3LG;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3766;AF=0.0006;AFR_AF=0.0023;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs531218169 19:49488501 G ENSG00000273189 ENST00000595815 Transcript downstream_gene_variant - - - - - rs531218169 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=864;STRAND=1;AF=0.0006;AFR_AF=0.0023;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs531218169 19:49488501 G ENSG00000090554 ENST00000596435 Transcript downstream_gene_variant - - - - - rs531218169 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2270;STRAND=1;SYMBOL=FLT3LG;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3766;AF=0.0006;AFR_AF=0.0023;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs531218169 19:49488501 G ENSG00000090554 ENST00000597551 Transcript downstream_gene_variant - - - - - rs531218169 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2270;STRAND=1;SYMBOL=FLT3LG;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3766;AF=0.0006;AFR_AF=0.0023;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs531218169 19:49488501 G ENSG00000090554 ENST00000598472 Transcript downstream_gene_variant - - - - - rs531218169 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2472;STRAND=1;SYMBOL=FLT3LG;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3766;AF=0.0006;AFR_AF=0.0023;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs531218169 19:49488501 G ENSG00000090554 ENST00000598555 Transcript downstream_gene_variant - - - - - rs531218169 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2270;STRAND=1;FLAGS=cds_start_NF;SYMBOL=FLT3LG;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3766;AF=0.0006;AFR_AF=0.0023;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs531218169 19:49488501 G ENSG00000269469 ENST00000599536 Transcript downstream_gene_variant - - - - - rs531218169 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2270;STRAND=1;FLAGS=cds_start_NF;AF=0.0006;AFR_AF=0.0023;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs531218169 19:49488501 G ENSG00000090554 ENST00000600084 Transcript downstream_gene_variant - - - - - rs531218169 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2270;STRAND=1;SYMBOL=FLT3LG;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3766;AF=0.0006;AFR_AF=0.0023;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs531218169 19:49488501 G ENSG00000090554 ENST00000600429 Transcript downstream_gene_variant - - - - - rs531218169 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2350;STRAND=1;SYMBOL=FLT3LG;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3766;AF=0.0006;AFR_AF=0.0023;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs531218169 19:49488501 G ENSG00000090554 ENST00000601800 Transcript downstream_gene_variant - - - - - rs531218169 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2270;STRAND=1;SYMBOL=FLT3LG;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3766;AF=0.0006;AFR_AF=0.0023;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs531218169 19:49488501 G ENSG00000142541 ENST00000621674 Transcript intron_variant - - - - - rs531218169 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0006;AFR_AF=0.0023;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs531218169 19:49488501 G ENSG00000142541 ENST00000624069 Transcript intron_variant,NMD_transcript_variant - - - - - rs531218169 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0006;AFR_AF=0.0023;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs531218169 19:49488501 G ENSG00000142541 ENST00000676477 Transcript intron_variant,non_coding_transcript_variant - - - - - rs531218169 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0006;AFR_AF=0.0023;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs531218169 19:49488501 G ENSG00000142541 ENST00000676556 Transcript intron_variant,non_coding_transcript_variant - - - - - rs531218169 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0006;AFR_AF=0.0023;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs531218169 19:49488501 G ENSG00000142541 ENST00000677048 Transcript intron_variant,non_coding_transcript_variant - - - - - rs531218169 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0006;AFR_AF=0.0023;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs531218169 19:49488501 G ENSG00000142541 ENST00000678146 Transcript intron_variant,non_coding_transcript_variant - - - - - rs531218169 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0006;AFR_AF=0.0023;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs531218169 19:49488501 G ENSG00000142541 ENST00000678187 Transcript upstream_gene_variant - - - - - rs531218169 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1283;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0006;AFR_AF=0.0023;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs531218169 19:49488501 G ENSG00000142541 ENST00000678510 Transcript intron_variant - - - - - rs531218169 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0006;AFR_AF=0.0023;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs531218169 19:49488501 G ENSG00000142541 ENST00000678713 Transcript upstream_gene_variant - - - - - rs531218169 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1362;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0006;AFR_AF=0.0023;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs531218169 19:49488501 G ENSG00000142541 ENST00000679106 Transcript intron_variant - - - - - rs531218169 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0006;AFR_AF=0.0023;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs3786567 19:49488532 T ENSG00000090554 ENST00000204637 Transcript downstream_gene_variant - - - - - rs3786567 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2301;STRAND=1;SYMBOL=FLT3LG;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3766;AF=0.2622;AFR_AF=0.6936;AMR_AF=0.1398;EAS_AF=0.0694;EUR_AF=0.1272;SAS_AF=0.1033 rs3786567 19:49488532 T ENSG00000199631 ENST00000362761 Transcript upstream_gene_variant - - - - - rs3786567 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2083;STRAND=1;SYMBOL=SNORD33;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10160;AF=0.2622;AFR_AF=0.6936;AMR_AF=0.1398;EAS_AF=0.0694;EUR_AF=0.1272;SAS_AF=0.1033 rs3786567 19:49488532 T ENSG00000200259 ENST00000363389 Transcript upstream_gene_variant - - - - - rs3786567 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2643;STRAND=1;SYMBOL=SNORD35A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10162;AF=0.2622;AFR_AF=0.6936;AMR_AF=0.1398;EAS_AF=0.0694;EUR_AF=0.1272;SAS_AF=0.1033 rs3786567 19:49488532 T ENSG00000201675 ENST00000364805 Transcript upstream_gene_variant - - - - - rs3786567 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1433;STRAND=1;SYMBOL=SNORD32A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10159;AF=0.2622;AFR_AF=0.6936;AMR_AF=0.1398;EAS_AF=0.0694;EUR_AF=0.1272;SAS_AF=0.1033 rs3786567 19:49488532 T ENSG00000202503 ENST00000365633 Transcript upstream_gene_variant - - - - - rs3786567 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2372;STRAND=1;SYMBOL=SNORD34;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10161;AF=0.2622;AFR_AF=0.6936;AMR_AF=0.1398;EAS_AF=0.0694;EUR_AF=0.1272;SAS_AF=0.1033 rs3786567 19:49488532 T ENSG00000142541 ENST00000391857 Transcript intron_variant - - - - - rs3786567 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.2622;AFR_AF=0.6936;AMR_AF=0.1398;EAS_AF=0.0694;EUR_AF=0.1272;SAS_AF=0.1033 rs3786567 19:49488532 T ENSG00000142541 ENST00000467825 Transcript intron_variant - - - - - rs3786567 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_start_NF;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.2622;AFR_AF=0.6936;AMR_AF=0.1398;EAS_AF=0.0694;EUR_AF=0.1272;SAS_AF=0.1033 rs3786567 19:49488532 T ENSG00000142541 ENST00000468655 Transcript upstream_gene_variant - - - - - rs3786567 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2113;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.2622;AFR_AF=0.6936;AMR_AF=0.1398;EAS_AF=0.0694;EUR_AF=0.1272;SAS_AF=0.1033 rs3786567 19:49488532 T ENSG00000142541 ENST00000472481 Transcript intron_variant,non_coding_transcript_variant - - - - - rs3786567 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.2622;AFR_AF=0.6936;AMR_AF=0.1398;EAS_AF=0.0694;EUR_AF=0.1272;SAS_AF=0.1033 rs3786567 19:49488532 T ENSG00000142541 ENST00000474171 Transcript upstream_gene_variant - - - - - rs3786567 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1997;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.2622;AFR_AF=0.6936;AMR_AF=0.1398;EAS_AF=0.0694;EUR_AF=0.1272;SAS_AF=0.1033 rs3786567 19:49488532 T ENSG00000142541 ENST00000476268 Transcript upstream_gene_variant - - - - - rs3786567 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1318;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.2622;AFR_AF=0.6936;AMR_AF=0.1398;EAS_AF=0.0694;EUR_AF=0.1272;SAS_AF=0.1033 rs3786567 19:49488532 T ENSG00000142541 ENST00000476300 Transcript upstream_gene_variant - - - - - rs3786567 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2308;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.2622;AFR_AF=0.6936;AMR_AF=0.1398;EAS_AF=0.0694;EUR_AF=0.1272;SAS_AF=0.1033 rs3786567 19:49488532 T ENSG00000142541 ENST00000477613 Transcript intron_variant,non_coding_transcript_variant - - - - - rs3786567 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.2622;AFR_AF=0.6936;AMR_AF=0.1398;EAS_AF=0.0694;EUR_AF=0.1272;SAS_AF=0.1033 rs3786567 19:49488532 T ENSG00000142541 ENST00000479992 Transcript intron_variant,non_coding_transcript_variant - - - - - rs3786567 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.2622;AFR_AF=0.6936;AMR_AF=0.1398;EAS_AF=0.0694;EUR_AF=0.1272;SAS_AF=0.1033 rs3786567 19:49488532 T ENSG00000142541 ENST00000484279 Transcript intron_variant,NMD_transcript_variant - - - - - rs3786567 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.2622;AFR_AF=0.6936;AMR_AF=0.1398;EAS_AF=0.0694;EUR_AF=0.1272;SAS_AF=0.1033 rs3786567 19:49488532 T ENSG00000142541 ENST00000486930 Transcript intron_variant,non_coding_transcript_variant - - - - - rs3786567 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.2622;AFR_AF=0.6936;AMR_AF=0.1398;EAS_AF=0.0694;EUR_AF=0.1272;SAS_AF=0.1033 rs3786567 19:49488532 T ENSG00000142541 ENST00000488946 Transcript intron_variant,non_coding_transcript_variant - - - - - rs3786567 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.2622;AFR_AF=0.6936;AMR_AF=0.1398;EAS_AF=0.0694;EUR_AF=0.1272;SAS_AF=0.1033 rs3786567 19:49488532 T ENSG00000090554 ENST00000594009 Transcript downstream_gene_variant - - - - - rs3786567 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2301;STRAND=1;SYMBOL=FLT3LG;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3766;AF=0.2622;AFR_AF=0.6936;AMR_AF=0.1398;EAS_AF=0.0694;EUR_AF=0.1272;SAS_AF=0.1033 rs3786567 19:49488532 T ENSG00000273189 ENST00000595815 Transcript downstream_gene_variant - - - - - rs3786567 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=895;STRAND=1;AF=0.2622;AFR_AF=0.6936;AMR_AF=0.1398;EAS_AF=0.0694;EUR_AF=0.1272;SAS_AF=0.1033 rs3786567 19:49488532 T ENSG00000090554 ENST00000596435 Transcript downstream_gene_variant - - - - - rs3786567 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2301;STRAND=1;SYMBOL=FLT3LG;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3766;AF=0.2622;AFR_AF=0.6936;AMR_AF=0.1398;EAS_AF=0.0694;EUR_AF=0.1272;SAS_AF=0.1033 rs3786567 19:49488532 T ENSG00000090554 ENST00000597551 Transcript downstream_gene_variant - - - - - rs3786567 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2301;STRAND=1;SYMBOL=FLT3LG;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3766;AF=0.2622;AFR_AF=0.6936;AMR_AF=0.1398;EAS_AF=0.0694;EUR_AF=0.1272;SAS_AF=0.1033 rs3786567 19:49488532 T ENSG00000090554 ENST00000598472 Transcript downstream_gene_variant - - - - - rs3786567 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2503;STRAND=1;SYMBOL=FLT3LG;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3766;AF=0.2622;AFR_AF=0.6936;AMR_AF=0.1398;EAS_AF=0.0694;EUR_AF=0.1272;SAS_AF=0.1033 rs3786567 19:49488532 T ENSG00000090554 ENST00000598555 Transcript downstream_gene_variant - - - - - rs3786567 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2301;STRAND=1;FLAGS=cds_start_NF;SYMBOL=FLT3LG;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3766;AF=0.2622;AFR_AF=0.6936;AMR_AF=0.1398;EAS_AF=0.0694;EUR_AF=0.1272;SAS_AF=0.1033 rs3786567 19:49488532 T ENSG00000269469 ENST00000599536 Transcript downstream_gene_variant - - - - - rs3786567 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2301;STRAND=1;FLAGS=cds_start_NF;AF=0.2622;AFR_AF=0.6936;AMR_AF=0.1398;EAS_AF=0.0694;EUR_AF=0.1272;SAS_AF=0.1033 rs3786567 19:49488532 T ENSG00000090554 ENST00000600084 Transcript downstream_gene_variant - - - - - rs3786567 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2301;STRAND=1;SYMBOL=FLT3LG;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3766;AF=0.2622;AFR_AF=0.6936;AMR_AF=0.1398;EAS_AF=0.0694;EUR_AF=0.1272;SAS_AF=0.1033 rs3786567 19:49488532 T ENSG00000090554 ENST00000600429 Transcript downstream_gene_variant - - - - - rs3786567 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2381;STRAND=1;SYMBOL=FLT3LG;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3766;AF=0.2622;AFR_AF=0.6936;AMR_AF=0.1398;EAS_AF=0.0694;EUR_AF=0.1272;SAS_AF=0.1033 rs3786567 19:49488532 T ENSG00000090554 ENST00000601800 Transcript downstream_gene_variant - - - - - rs3786567 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2301;STRAND=1;SYMBOL=FLT3LG;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3766;AF=0.2622;AFR_AF=0.6936;AMR_AF=0.1398;EAS_AF=0.0694;EUR_AF=0.1272;SAS_AF=0.1033 rs3786567 19:49488532 T ENSG00000142541 ENST00000621674 Transcript intron_variant - - - - - rs3786567 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.2622;AFR_AF=0.6936;AMR_AF=0.1398;EAS_AF=0.0694;EUR_AF=0.1272;SAS_AF=0.1033 rs3786567 19:49488532 T ENSG00000142541 ENST00000624069 Transcript intron_variant,NMD_transcript_variant - - - - - rs3786567 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.2622;AFR_AF=0.6936;AMR_AF=0.1398;EAS_AF=0.0694;EUR_AF=0.1272;SAS_AF=0.1033 rs3786567 19:49488532 T ENSG00000142541 ENST00000676477 Transcript intron_variant,non_coding_transcript_variant - - - - - rs3786567 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.2622;AFR_AF=0.6936;AMR_AF=0.1398;EAS_AF=0.0694;EUR_AF=0.1272;SAS_AF=0.1033 rs3786567 19:49488532 T ENSG00000142541 ENST00000676556 Transcript intron_variant,non_coding_transcript_variant - - - - - rs3786567 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.2622;AFR_AF=0.6936;AMR_AF=0.1398;EAS_AF=0.0694;EUR_AF=0.1272;SAS_AF=0.1033 rs3786567 19:49488532 T ENSG00000142541 ENST00000677048 Transcript intron_variant,non_coding_transcript_variant - - - - - rs3786567 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.2622;AFR_AF=0.6936;AMR_AF=0.1398;EAS_AF=0.0694;EUR_AF=0.1272;SAS_AF=0.1033 rs3786567 19:49488532 T ENSG00000142541 ENST00000678146 Transcript intron_variant,non_coding_transcript_variant - - - - - rs3786567 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.2622;AFR_AF=0.6936;AMR_AF=0.1398;EAS_AF=0.0694;EUR_AF=0.1272;SAS_AF=0.1033 rs3786567 19:49488532 T ENSG00000142541 ENST00000678187 Transcript upstream_gene_variant - - - - - rs3786567 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1252;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.2622;AFR_AF=0.6936;AMR_AF=0.1398;EAS_AF=0.0694;EUR_AF=0.1272;SAS_AF=0.1033 rs3786567 19:49488532 T ENSG00000142541 ENST00000678510 Transcript intron_variant - - - - - rs3786567 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.2622;AFR_AF=0.6936;AMR_AF=0.1398;EAS_AF=0.0694;EUR_AF=0.1272;SAS_AF=0.1033 rs3786567 19:49488532 T ENSG00000142541 ENST00000678713 Transcript upstream_gene_variant - - - - - rs3786567 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1331;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.2622;AFR_AF=0.6936;AMR_AF=0.1398;EAS_AF=0.0694;EUR_AF=0.1272;SAS_AF=0.1033 rs3786567 19:49488532 T ENSG00000142541 ENST00000679106 Transcript intron_variant - - - - - rs3786567 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.2622;AFR_AF=0.6936;AMR_AF=0.1398;EAS_AF=0.0694;EUR_AF=0.1272;SAS_AF=0.1033 rs537048544 19:49488750 A ENSG00000090554 ENST00000204637 Transcript downstream_gene_variant - - - - - rs537048544 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=2519;STRAND=1;SYMBOL=FLT3LG;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3766;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs537048544 19:49488750 A ENSG00000199631 ENST00000362761 Transcript upstream_gene_variant - - - - - rs537048544 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=1865;STRAND=1;SYMBOL=SNORD33;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10160;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs537048544 19:49488750 A ENSG00000200259 ENST00000363389 Transcript upstream_gene_variant - - - - - rs537048544 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=2425;STRAND=1;SYMBOL=SNORD35A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10162;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs537048544 19:49488750 A ENSG00000201675 ENST00000364805 Transcript upstream_gene_variant - - - - - rs537048544 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=1215;STRAND=1;SYMBOL=SNORD32A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10159;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs537048544 19:49488750 A ENSG00000202503 ENST00000365633 Transcript upstream_gene_variant - - - - - rs537048544 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=2154;STRAND=1;SYMBOL=SNORD34;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10161;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs537048544 19:49488750 A ENSG00000142541 ENST00000391857 Transcript intron_variant - - - - - rs537048544 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs537048544 19:49488750 A ENSG00000142541 ENST00000467825 Transcript intron_variant - - - - - rs537048544 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_start_NF;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs537048544 19:49488750 A ENSG00000142541 ENST00000468655 Transcript upstream_gene_variant - - - - - rs537048544 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=1895;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs537048544 19:49488750 A ENSG00000142541 ENST00000472481 Transcript intron_variant,non_coding_transcript_variant - - - - - rs537048544 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs537048544 19:49488750 A ENSG00000142541 ENST00000474171 Transcript upstream_gene_variant - - - - - rs537048544 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=1779;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs537048544 19:49488750 A ENSG00000142541 ENST00000476268 Transcript upstream_gene_variant - - - - - rs537048544 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=1100;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs537048544 19:49488750 A ENSG00000142541 ENST00000476300 Transcript upstream_gene_variant - - - - - rs537048544 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=2090;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs537048544 19:49488750 A ENSG00000142541 ENST00000477613 Transcript intron_variant,non_coding_transcript_variant - - - - - rs537048544 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs537048544 19:49488750 A ENSG00000142541 ENST00000479992 Transcript intron_variant,non_coding_transcript_variant - - - - - rs537048544 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs537048544 19:49488750 A ENSG00000142541 ENST00000484279 Transcript intron_variant,NMD_transcript_variant - - - - - rs537048544 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs537048544 19:49488750 A ENSG00000142541 ENST00000486930 Transcript intron_variant,non_coding_transcript_variant - - - - - rs537048544 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs537048544 19:49488750 A ENSG00000142541 ENST00000488946 Transcript intron_variant,non_coding_transcript_variant - - - - - rs537048544 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs537048544 19:49488750 A ENSG00000090554 ENST00000594009 Transcript downstream_gene_variant - - - - - rs537048544 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=2519;STRAND=1;SYMBOL=FLT3LG;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3766;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs537048544 19:49488750 A ENSG00000273189 ENST00000595815 Transcript downstream_gene_variant - - - - - rs537048544 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=1113;STRAND=1;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs537048544 19:49488750 A ENSG00000090554 ENST00000596435 Transcript downstream_gene_variant - - - - - rs537048544 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=2519;STRAND=1;SYMBOL=FLT3LG;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3766;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs537048544 19:49488750 A ENSG00000090554 ENST00000597551 Transcript downstream_gene_variant - - - - - rs537048544 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=2519;STRAND=1;SYMBOL=FLT3LG;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3766;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs537048544 19:49488750 A ENSG00000090554 ENST00000598472 Transcript downstream_gene_variant - - - - - rs537048544 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=2721;STRAND=1;SYMBOL=FLT3LG;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3766;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs537048544 19:49488750 A ENSG00000090554 ENST00000598555 Transcript downstream_gene_variant - - - - - rs537048544 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=2519;STRAND=1;FLAGS=cds_start_NF;SYMBOL=FLT3LG;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3766;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs537048544 19:49488750 A ENSG00000269469 ENST00000599536 Transcript downstream_gene_variant - - - - - rs537048544 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=2519;STRAND=1;FLAGS=cds_start_NF;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs537048544 19:49488750 A ENSG00000090554 ENST00000600084 Transcript downstream_gene_variant - - - - - rs537048544 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=2519;STRAND=1;SYMBOL=FLT3LG;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3766;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs537048544 19:49488750 A ENSG00000090554 ENST00000600429 Transcript downstream_gene_variant - - - - - rs537048544 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=2599;STRAND=1;SYMBOL=FLT3LG;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3766;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs537048544 19:49488750 A ENSG00000090554 ENST00000601800 Transcript downstream_gene_variant - - - - - rs537048544 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=2519;STRAND=1;SYMBOL=FLT3LG;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3766;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs537048544 19:49488750 A ENSG00000142541 ENST00000621674 Transcript intron_variant - - - - - rs537048544 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs537048544 19:49488750 A ENSG00000142541 ENST00000624069 Transcript intron_variant,NMD_transcript_variant - - - - - rs537048544 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs537048544 19:49488750 A ENSG00000142541 ENST00000676477 Transcript intron_variant,non_coding_transcript_variant - - - - - rs537048544 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs537048544 19:49488750 A ENSG00000142541 ENST00000676556 Transcript intron_variant,non_coding_transcript_variant - - - - - rs537048544 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs537048544 19:49488750 A ENSG00000142541 ENST00000677048 Transcript intron_variant,non_coding_transcript_variant - - - - - rs537048544 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs537048544 19:49488750 A ENSG00000142541 ENST00000678146 Transcript intron_variant,non_coding_transcript_variant - - - - - rs537048544 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs537048544 19:49488750 A ENSG00000142541 ENST00000678187 Transcript upstream_gene_variant - - - - - rs537048544 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=1034;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs537048544 19:49488750 A ENSG00000142541 ENST00000678510 Transcript intron_variant - - - - - rs537048544 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs537048544 19:49488750 A ENSG00000142541 ENST00000678713 Transcript upstream_gene_variant - - - - - rs537048544 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=1113;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs537048544 19:49488750 A ENSG00000142541 ENST00000679106 Transcript intron_variant - - - - - rs537048544 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs112700484 19:49489182 G ENSG00000090554 ENST00000204637 Transcript downstream_gene_variant - - - - - rs112700484 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2951;STRAND=1;SYMBOL=FLT3LG;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3766;AF=0.0134;AFR_AF=0.0499;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs112700484 19:49489182 G ENSG00000199631 ENST00000362761 Transcript upstream_gene_variant - - - - - rs112700484 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1433;STRAND=1;SYMBOL=SNORD33;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10160;AF=0.0134;AFR_AF=0.0499;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs112700484 19:49489182 G ENSG00000200259 ENST00000363389 Transcript upstream_gene_variant - - - - - rs112700484 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1993;STRAND=1;SYMBOL=SNORD35A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10162;AF=0.0134;AFR_AF=0.0499;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs112700484 19:49489182 G ENSG00000201675 ENST00000364805 Transcript upstream_gene_variant - - - - - rs112700484 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=783;STRAND=1;SYMBOL=SNORD32A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10159;AF=0.0134;AFR_AF=0.0499;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs112700484 19:49489182 G ENSG00000202503 ENST00000365633 Transcript upstream_gene_variant - - - - - rs112700484 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1722;STRAND=1;SYMBOL=SNORD34;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10161;AF=0.0134;AFR_AF=0.0499;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs112700484 19:49489182 G ENSG00000142541 ENST00000391857 Transcript intron_variant - - - - - rs112700484 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0134;AFR_AF=0.0499;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs112700484 19:49489182 G ENSG00000142541 ENST00000467825 Transcript intron_variant - - - - - rs112700484 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_start_NF;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0134;AFR_AF=0.0499;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs112700484 19:49489182 G ENSG00000142541 ENST00000468655 Transcript upstream_gene_variant - - - - - rs112700484 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1463;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0134;AFR_AF=0.0499;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs112700484 19:49489182 G ENSG00000142541 ENST00000472481 Transcript intron_variant,non_coding_transcript_variant - - - - - rs112700484 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0134;AFR_AF=0.0499;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs112700484 19:49489182 G ENSG00000142541 ENST00000474171 Transcript upstream_gene_variant - - - - - rs112700484 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1347;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0134;AFR_AF=0.0499;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs112700484 19:49489182 G ENSG00000142541 ENST00000476268 Transcript upstream_gene_variant - - - - - rs112700484 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=668;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0134;AFR_AF=0.0499;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs112700484 19:49489182 G ENSG00000142541 ENST00000476300 Transcript upstream_gene_variant - - - - - rs112700484 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1658;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0134;AFR_AF=0.0499;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs112700484 19:49489182 G ENSG00000142541 ENST00000477613 Transcript intron_variant,non_coding_transcript_variant - - - - - rs112700484 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0134;AFR_AF=0.0499;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs112700484 19:49489182 G ENSG00000142541 ENST00000479992 Transcript intron_variant,non_coding_transcript_variant - - - - - rs112700484 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0134;AFR_AF=0.0499;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs112700484 19:49489182 G ENSG00000142541 ENST00000484279 Transcript intron_variant,NMD_transcript_variant - - - - - rs112700484 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0134;AFR_AF=0.0499;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs112700484 19:49489182 G ENSG00000142541 ENST00000486930 Transcript intron_variant,non_coding_transcript_variant - - - - - rs112700484 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0134;AFR_AF=0.0499;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs112700484 19:49489182 G ENSG00000142541 ENST00000488946 Transcript intron_variant,non_coding_transcript_variant - - - - - rs112700484 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0134;AFR_AF=0.0499;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs112700484 19:49489182 G ENSG00000090554 ENST00000594009 Transcript downstream_gene_variant - - - - - rs112700484 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2951;STRAND=1;SYMBOL=FLT3LG;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3766;AF=0.0134;AFR_AF=0.0499;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs112700484 19:49489182 G ENSG00000273189 ENST00000595815 Transcript downstream_gene_variant - - - - - rs112700484 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1545;STRAND=1;AF=0.0134;AFR_AF=0.0499;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs112700484 19:49489182 G ENSG00000090554 ENST00000596435 Transcript downstream_gene_variant - - - - - rs112700484 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2951;STRAND=1;SYMBOL=FLT3LG;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3766;AF=0.0134;AFR_AF=0.0499;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs112700484 19:49489182 G ENSG00000090554 ENST00000597551 Transcript downstream_gene_variant - - - - - rs112700484 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2951;STRAND=1;SYMBOL=FLT3LG;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3766;AF=0.0134;AFR_AF=0.0499;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs112700484 19:49489182 G ENSG00000090554 ENST00000598472 Transcript downstream_gene_variant - - - - - rs112700484 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=3153;STRAND=1;SYMBOL=FLT3LG;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3766;AF=0.0134;AFR_AF=0.0499;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs112700484 19:49489182 G ENSG00000090554 ENST00000598555 Transcript downstream_gene_variant - - - - - rs112700484 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2951;STRAND=1;FLAGS=cds_start_NF;SYMBOL=FLT3LG;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3766;AF=0.0134;AFR_AF=0.0499;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs112700484 19:49489182 G ENSG00000269469 ENST00000599536 Transcript downstream_gene_variant - - - - - rs112700484 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2951;STRAND=1;FLAGS=cds_start_NF;AF=0.0134;AFR_AF=0.0499;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs112700484 19:49489182 G ENSG00000090554 ENST00000600084 Transcript downstream_gene_variant - - - - - rs112700484 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2951;STRAND=1;SYMBOL=FLT3LG;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3766;AF=0.0134;AFR_AF=0.0499;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs112700484 19:49489182 G ENSG00000090554 ENST00000600429 Transcript downstream_gene_variant - - - - - rs112700484 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=3031;STRAND=1;SYMBOL=FLT3LG;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3766;AF=0.0134;AFR_AF=0.0499;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs112700484 19:49489182 G ENSG00000090554 ENST00000601800 Transcript downstream_gene_variant - - - - - rs112700484 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2951;STRAND=1;SYMBOL=FLT3LG;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3766;AF=0.0134;AFR_AF=0.0499;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs112700484 19:49489182 G ENSG00000142541 ENST00000621674 Transcript intron_variant - - - - - rs112700484 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0134;AFR_AF=0.0499;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs112700484 19:49489182 G ENSG00000142541 ENST00000624069 Transcript intron_variant,NMD_transcript_variant - - - - - rs112700484 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0134;AFR_AF=0.0499;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs112700484 19:49489182 G ENSG00000142541 ENST00000676477 Transcript intron_variant,non_coding_transcript_variant - - - - - rs112700484 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0134;AFR_AF=0.0499;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs112700484 19:49489182 G ENSG00000142541 ENST00000676556 Transcript intron_variant,non_coding_transcript_variant - - - - - rs112700484 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0134;AFR_AF=0.0499;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs112700484 19:49489182 G ENSG00000142541 ENST00000677048 Transcript intron_variant,non_coding_transcript_variant - - - - - rs112700484 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0134;AFR_AF=0.0499;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs112700484 19:49489182 G ENSG00000142541 ENST00000678146 Transcript intron_variant,non_coding_transcript_variant - - - - - rs112700484 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0134;AFR_AF=0.0499;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs112700484 19:49489182 G ENSG00000142541 ENST00000678187 Transcript upstream_gene_variant - - - - - rs112700484 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=602;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0134;AFR_AF=0.0499;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs112700484 19:49489182 G ENSG00000142541 ENST00000678510 Transcript intron_variant - - - - - rs112700484 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0134;AFR_AF=0.0499;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs112700484 19:49489182 G ENSG00000142541 ENST00000678713 Transcript upstream_gene_variant - - - - - rs112700484 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=681;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0134;AFR_AF=0.0499;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs112700484 19:49489182 G ENSG00000142541 ENST00000679106 Transcript intron_variant - - - - - rs112700484 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0134;AFR_AF=0.0499;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs149515283 19:49490186 C ENSG00000090554 ENST00000204637 Transcript downstream_gene_variant - - - - - rs149515283 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=3955;STRAND=1;SYMBOL=FLT3LG;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3766;AF=0.0006;AFR_AF=0.0015;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=0.0002239;gnomAD_AFR_AF=0.0004969;gnomAD_AMR_AF=0.000232;gnomAD_ASJ_AF=0.0003989;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0.0002834;gnomAD_OTH_AF=0.0004921;gnomAD_SAS_AF=3.271e-05 rs149515283 19:49490186 C ENSG00000199631 ENST00000362761 Transcript upstream_gene_variant - - - - - rs149515283 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=429;STRAND=1;SYMBOL=SNORD33;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10160;AF=0.0006;AFR_AF=0.0015;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=0.0002239;gnomAD_AFR_AF=0.0004969;gnomAD_AMR_AF=0.000232;gnomAD_ASJ_AF=0.0003989;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0.0002834;gnomAD_OTH_AF=0.0004921;gnomAD_SAS_AF=3.271e-05 rs149515283 19:49490186 C ENSG00000200259 ENST00000363389 Transcript upstream_gene_variant - - - - - rs149515283 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=989;STRAND=1;SYMBOL=SNORD35A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10162;AF=0.0006;AFR_AF=0.0015;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=0.0002239;gnomAD_AFR_AF=0.0004969;gnomAD_AMR_AF=0.000232;gnomAD_ASJ_AF=0.0003989;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0.0002834;gnomAD_OTH_AF=0.0004921;gnomAD_SAS_AF=3.271e-05 rs149515283 19:49490186 C ENSG00000201675 ENST00000364805 Transcript downstream_gene_variant - - - - - rs149515283 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=138;STRAND=1;SYMBOL=SNORD32A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10159;AF=0.0006;AFR_AF=0.0015;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=0.0002239;gnomAD_AFR_AF=0.0004969;gnomAD_AMR_AF=0.000232;gnomAD_ASJ_AF=0.0003989;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0.0002834;gnomAD_OTH_AF=0.0004921;gnomAD_SAS_AF=3.271e-05 rs149515283 19:49490186 C ENSG00000202503 ENST00000365633 Transcript upstream_gene_variant - - - - - rs149515283 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=718;STRAND=1;SYMBOL=SNORD34;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10161;AF=0.0006;AFR_AF=0.0015;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=0.0002239;gnomAD_AFR_AF=0.0004969;gnomAD_AMR_AF=0.000232;gnomAD_ASJ_AF=0.0003989;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0.0002834;gnomAD_OTH_AF=0.0004921;gnomAD_SAS_AF=3.271e-05 rs149515283 19:49490186 C ENSG00000142541 ENST00000391857 Transcript intron_variant - - - - - rs149515283 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0006;AFR_AF=0.0015;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=0.0002239;gnomAD_AFR_AF=0.0004969;gnomAD_AMR_AF=0.000232;gnomAD_ASJ_AF=0.0003989;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0.0002834;gnomAD_OTH_AF=0.0004921;gnomAD_SAS_AF=3.271e-05 rs149515283 19:49490186 C ENSG00000142541 ENST00000467825 Transcript intron_variant - - - - - rs149515283 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_start_NF;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0006;AFR_AF=0.0015;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=0.0002239;gnomAD_AFR_AF=0.0004969;gnomAD_AMR_AF=0.000232;gnomAD_ASJ_AF=0.0003989;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0.0002834;gnomAD_OTH_AF=0.0004921;gnomAD_SAS_AF=3.271e-05 rs149515283 19:49490186 C ENSG00000142541 ENST00000468655 Transcript upstream_gene_variant - - - - - rs149515283 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=459;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0006;AFR_AF=0.0015;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=0.0002239;gnomAD_AFR_AF=0.0004969;gnomAD_AMR_AF=0.000232;gnomAD_ASJ_AF=0.0003989;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0.0002834;gnomAD_OTH_AF=0.0004921;gnomAD_SAS_AF=3.271e-05 rs149515283 19:49490186 C ENSG00000142541 ENST00000472481 Transcript intron_variant,non_coding_transcript_variant - - - - - rs149515283 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0006;AFR_AF=0.0015;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=0.0002239;gnomAD_AFR_AF=0.0004969;gnomAD_AMR_AF=0.000232;gnomAD_ASJ_AF=0.0003989;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0.0002834;gnomAD_OTH_AF=0.0004921;gnomAD_SAS_AF=3.271e-05 rs149515283 19:49490186 C ENSG00000142541 ENST00000474171 Transcript upstream_gene_variant - - - - - rs149515283 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=343;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0006;AFR_AF=0.0015;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=0.0002239;gnomAD_AFR_AF=0.0004969;gnomAD_AMR_AF=0.000232;gnomAD_ASJ_AF=0.0003989;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0.0002834;gnomAD_OTH_AF=0.0004921;gnomAD_SAS_AF=3.271e-05 rs149515283 19:49490186 C ENSG00000142541 ENST00000476268 Transcript non_coding_transcript_exon_variant 337 - - - - rs149515283 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0006;AFR_AF=0.0015;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=0.0002239;gnomAD_AFR_AF=0.0004969;gnomAD_AMR_AF=0.000232;gnomAD_ASJ_AF=0.0003989;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0.0002834;gnomAD_OTH_AF=0.0004921;gnomAD_SAS_AF=3.271e-05 rs149515283 19:49490186 C ENSG00000142541 ENST00000476300 Transcript upstream_gene_variant - - - - - rs149515283 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=654;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0006;AFR_AF=0.0015;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=0.0002239;gnomAD_AFR_AF=0.0004969;gnomAD_AMR_AF=0.000232;gnomAD_ASJ_AF=0.0003989;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0.0002834;gnomAD_OTH_AF=0.0004921;gnomAD_SAS_AF=3.271e-05 rs149515283 19:49490186 C ENSG00000142541 ENST00000477613 Transcript non_coding_transcript_exon_variant 153 - - - - rs149515283 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0006;AFR_AF=0.0015;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=0.0002239;gnomAD_AFR_AF=0.0004969;gnomAD_AMR_AF=0.000232;gnomAD_ASJ_AF=0.0003989;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0.0002834;gnomAD_OTH_AF=0.0004921;gnomAD_SAS_AF=3.271e-05 rs149515283 19:49490186 C ENSG00000142541 ENST00000479992 Transcript intron_variant,non_coding_transcript_variant - - - - - rs149515283 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0006;AFR_AF=0.0015;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=0.0002239;gnomAD_AFR_AF=0.0004969;gnomAD_AMR_AF=0.000232;gnomAD_ASJ_AF=0.0003989;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0.0002834;gnomAD_OTH_AF=0.0004921;gnomAD_SAS_AF=3.271e-05 rs149515283 19:49490186 C ENSG00000142541 ENST00000484279 Transcript intron_variant,NMD_transcript_variant - - - - - rs149515283 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0006;AFR_AF=0.0015;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=0.0002239;gnomAD_AFR_AF=0.0004969;gnomAD_AMR_AF=0.000232;gnomAD_ASJ_AF=0.0003989;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0.0002834;gnomAD_OTH_AF=0.0004921;gnomAD_SAS_AF=3.271e-05 rs149515283 19:49490186 C ENSG00000142541 ENST00000486930 Transcript non_coding_transcript_exon_variant 374 - - - - rs149515283 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0006;AFR_AF=0.0015;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=0.0002239;gnomAD_AFR_AF=0.0004969;gnomAD_AMR_AF=0.000232;gnomAD_ASJ_AF=0.0003989;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0.0002834;gnomAD_OTH_AF=0.0004921;gnomAD_SAS_AF=3.271e-05 rs149515283 19:49490186 C ENSG00000142541 ENST00000488946 Transcript non_coding_transcript_exon_variant 374 - - - - rs149515283 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0006;AFR_AF=0.0015;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=0.0002239;gnomAD_AFR_AF=0.0004969;gnomAD_AMR_AF=0.000232;gnomAD_ASJ_AF=0.0003989;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0.0002834;gnomAD_OTH_AF=0.0004921;gnomAD_SAS_AF=3.271e-05 rs149515283 19:49490186 C ENSG00000090554 ENST00000594009 Transcript downstream_gene_variant - - - - - rs149515283 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=3955;STRAND=1;SYMBOL=FLT3LG;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3766;AF=0.0006;AFR_AF=0.0015;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=0.0002239;gnomAD_AFR_AF=0.0004969;gnomAD_AMR_AF=0.000232;gnomAD_ASJ_AF=0.0003989;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0.0002834;gnomAD_OTH_AF=0.0004921;gnomAD_SAS_AF=3.271e-05 rs149515283 19:49490186 C ENSG00000273189 ENST00000595815 Transcript downstream_gene_variant - - - - - rs149515283 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2549;STRAND=1;AF=0.0006;AFR_AF=0.0015;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=0.0002239;gnomAD_AFR_AF=0.0004969;gnomAD_AMR_AF=0.000232;gnomAD_ASJ_AF=0.0003989;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0.0002834;gnomAD_OTH_AF=0.0004921;gnomAD_SAS_AF=3.271e-05 rs149515283 19:49490186 C ENSG00000090554 ENST00000596435 Transcript downstream_gene_variant - - - - - rs149515283 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=3955;STRAND=1;SYMBOL=FLT3LG;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3766;AF=0.0006;AFR_AF=0.0015;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=0.0002239;gnomAD_AFR_AF=0.0004969;gnomAD_AMR_AF=0.000232;gnomAD_ASJ_AF=0.0003989;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0.0002834;gnomAD_OTH_AF=0.0004921;gnomAD_SAS_AF=3.271e-05 rs149515283 19:49490186 C ENSG00000090554 ENST00000597551 Transcript downstream_gene_variant - - - - - rs149515283 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=3955;STRAND=1;SYMBOL=FLT3LG;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3766;AF=0.0006;AFR_AF=0.0015;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=0.0002239;gnomAD_AFR_AF=0.0004969;gnomAD_AMR_AF=0.000232;gnomAD_ASJ_AF=0.0003989;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0.0002834;gnomAD_OTH_AF=0.0004921;gnomAD_SAS_AF=3.271e-05 rs149515283 19:49490186 C ENSG00000090554 ENST00000598472 Transcript downstream_gene_variant - - - - - rs149515283 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=4157;STRAND=1;SYMBOL=FLT3LG;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3766;AF=0.0006;AFR_AF=0.0015;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=0.0002239;gnomAD_AFR_AF=0.0004969;gnomAD_AMR_AF=0.000232;gnomAD_ASJ_AF=0.0003989;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0.0002834;gnomAD_OTH_AF=0.0004921;gnomAD_SAS_AF=3.271e-05 rs149515283 19:49490186 C ENSG00000090554 ENST00000598555 Transcript downstream_gene_variant - - - - - rs149515283 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=3955;STRAND=1;FLAGS=cds_start_NF;SYMBOL=FLT3LG;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3766;AF=0.0006;AFR_AF=0.0015;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=0.0002239;gnomAD_AFR_AF=0.0004969;gnomAD_AMR_AF=0.000232;gnomAD_ASJ_AF=0.0003989;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0.0002834;gnomAD_OTH_AF=0.0004921;gnomAD_SAS_AF=3.271e-05 rs149515283 19:49490186 C ENSG00000269469 ENST00000599536 Transcript downstream_gene_variant - - - - - rs149515283 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=3955;STRAND=1;FLAGS=cds_start_NF;AF=0.0006;AFR_AF=0.0015;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=0.0002239;gnomAD_AFR_AF=0.0004969;gnomAD_AMR_AF=0.000232;gnomAD_ASJ_AF=0.0003989;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0.0002834;gnomAD_OTH_AF=0.0004921;gnomAD_SAS_AF=3.271e-05 rs149515283 19:49490186 C ENSG00000090554 ENST00000600084 Transcript downstream_gene_variant - - - - - rs149515283 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=3955;STRAND=1;SYMBOL=FLT3LG;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3766;AF=0.0006;AFR_AF=0.0015;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=0.0002239;gnomAD_AFR_AF=0.0004969;gnomAD_AMR_AF=0.000232;gnomAD_ASJ_AF=0.0003989;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0.0002834;gnomAD_OTH_AF=0.0004921;gnomAD_SAS_AF=3.271e-05 rs149515283 19:49490186 C ENSG00000090554 ENST00000600429 Transcript downstream_gene_variant - - - - - rs149515283 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=4035;STRAND=1;SYMBOL=FLT3LG;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3766;AF=0.0006;AFR_AF=0.0015;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=0.0002239;gnomAD_AFR_AF=0.0004969;gnomAD_AMR_AF=0.000232;gnomAD_ASJ_AF=0.0003989;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0.0002834;gnomAD_OTH_AF=0.0004921;gnomAD_SAS_AF=3.271e-05 rs149515283 19:49490186 C ENSG00000090554 ENST00000601800 Transcript downstream_gene_variant - - - - - rs149515283 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=3955;STRAND=1;SYMBOL=FLT3LG;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3766;AF=0.0006;AFR_AF=0.0015;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=0.0002239;gnomAD_AFR_AF=0.0004969;gnomAD_AMR_AF=0.000232;gnomAD_ASJ_AF=0.0003989;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0.0002834;gnomAD_OTH_AF=0.0004921;gnomAD_SAS_AF=3.271e-05 rs149515283 19:49490186 C ENSG00000142541 ENST00000621674 Transcript intron_variant - - - - - rs149515283 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0006;AFR_AF=0.0015;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=0.0002239;gnomAD_AFR_AF=0.0004969;gnomAD_AMR_AF=0.000232;gnomAD_ASJ_AF=0.0003989;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0.0002834;gnomAD_OTH_AF=0.0004921;gnomAD_SAS_AF=3.271e-05 rs149515283 19:49490186 C ENSG00000142541 ENST00000624069 Transcript intron_variant,NMD_transcript_variant - - - - - rs149515283 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0006;AFR_AF=0.0015;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=0.0002239;gnomAD_AFR_AF=0.0004969;gnomAD_AMR_AF=0.000232;gnomAD_ASJ_AF=0.0003989;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0.0002834;gnomAD_OTH_AF=0.0004921;gnomAD_SAS_AF=3.271e-05 rs149515283 19:49490186 C ENSG00000142541 ENST00000676477 Transcript non_coding_transcript_exon_variant 374 - - - - rs149515283 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0006;AFR_AF=0.0015;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=0.0002239;gnomAD_AFR_AF=0.0004969;gnomAD_AMR_AF=0.000232;gnomAD_ASJ_AF=0.0003989;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0.0002834;gnomAD_OTH_AF=0.0004921;gnomAD_SAS_AF=3.271e-05 rs149515283 19:49490186 C ENSG00000142541 ENST00000676556 Transcript non_coding_transcript_exon_variant 366 - - - - rs149515283 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0006;AFR_AF=0.0015;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=0.0002239;gnomAD_AFR_AF=0.0004969;gnomAD_AMR_AF=0.000232;gnomAD_ASJ_AF=0.0003989;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0.0002834;gnomAD_OTH_AF=0.0004921;gnomAD_SAS_AF=3.271e-05 rs149515283 19:49490186 C ENSG00000142541 ENST00000677048 Transcript non_coding_transcript_exon_variant 373 - - - - rs149515283 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0006;AFR_AF=0.0015;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=0.0002239;gnomAD_AFR_AF=0.0004969;gnomAD_AMR_AF=0.000232;gnomAD_ASJ_AF=0.0003989;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0.0002834;gnomAD_OTH_AF=0.0004921;gnomAD_SAS_AF=3.271e-05 rs149515283 19:49490186 C ENSG00000142541 ENST00000678146 Transcript non_coding_transcript_exon_variant 373 - - - - rs149515283 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0006;AFR_AF=0.0015;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=0.0002239;gnomAD_AFR_AF=0.0004969;gnomAD_AMR_AF=0.000232;gnomAD_ASJ_AF=0.0003989;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0.0002834;gnomAD_OTH_AF=0.0004921;gnomAD_SAS_AF=3.271e-05 rs149515283 19:49490186 C ENSG00000142541 ENST00000678187 Transcript non_coding_transcript_exon_variant 403 - - - - rs149515283 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0006;AFR_AF=0.0015;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=0.0002239;gnomAD_AFR_AF=0.0004969;gnomAD_AMR_AF=0.000232;gnomAD_ASJ_AF=0.0003989;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0.0002834;gnomAD_OTH_AF=0.0004921;gnomAD_SAS_AF=3.271e-05 rs149515283 19:49490186 C ENSG00000142541 ENST00000678510 Transcript intron_variant - - - - - rs149515283 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0006;AFR_AF=0.0015;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=0.0002239;gnomAD_AFR_AF=0.0004969;gnomAD_AMR_AF=0.000232;gnomAD_ASJ_AF=0.0003989;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0.0002834;gnomAD_OTH_AF=0.0004921;gnomAD_SAS_AF=3.271e-05 rs149515283 19:49490186 C ENSG00000142541 ENST00000678713 Transcript intron_variant,NMD_transcript_variant - - - - - rs149515283 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0006;AFR_AF=0.0015;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=0.0002239;gnomAD_AFR_AF=0.0004969;gnomAD_AMR_AF=0.000232;gnomAD_ASJ_AF=0.0003989;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0.0002834;gnomAD_OTH_AF=0.0004921;gnomAD_SAS_AF=3.271e-05 rs149515283 19:49490186 C ENSG00000142541 ENST00000679106 Transcript intron_variant - - - - - rs149515283 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0006;AFR_AF=0.0015;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=0.0002239;gnomAD_AFR_AF=0.0004969;gnomAD_AMR_AF=0.000232;gnomAD_ASJ_AF=0.0003989;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0.0002834;gnomAD_OTH_AF=0.0004921;gnomAD_SAS_AF=3.271e-05 rs1061320 19:49490817 T ENSG00000090554 ENST00000204637 Transcript downstream_gene_variant - - - - - rs1061320 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=4586;STRAND=1;SYMBOL=FLT3LG;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3766;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=7.961e-06;gnomAD_AFR_AF=0.0001232;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1061320 19:49490817 T ENSG00000199631 ENST00000362761 Transcript downstream_gene_variant - - - - - rs1061320 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=118;STRAND=1;SYMBOL=SNORD33;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10160;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=7.961e-06;gnomAD_AFR_AF=0.0001232;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1061320 19:49490817 T ENSG00000200259 ENST00000363389 Transcript upstream_gene_variant - - - - - rs1061320 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=358;STRAND=1;SYMBOL=SNORD35A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10162;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=7.961e-06;gnomAD_AFR_AF=0.0001232;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1061320 19:49490817 T ENSG00000201675 ENST00000364805 Transcript downstream_gene_variant - - - - - rs1061320 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=769;STRAND=1;SYMBOL=SNORD32A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10159;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=7.961e-06;gnomAD_AFR_AF=0.0001232;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1061320 19:49490817 T ENSG00000202503 ENST00000365633 Transcript upstream_gene_variant - - - - - rs1061320 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=87;STRAND=1;SYMBOL=SNORD34;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10161;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=7.961e-06;gnomAD_AFR_AF=0.0001232;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1061320 19:49490817 T ENSG00000142541 ENST00000391857 Transcript synonymous_variant 317 295 99 L Ctg/Ttg rs1061320 IND=P2;ZYG=HET;IMPACT=LOW;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=7.961e-06;gnomAD_AFR_AF=0.0001232;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1061320 19:49490817 T ENSG00000142541 ENST00000467825 Transcript synonymous_variant 315 316 106 L Ctg/Ttg rs1061320 IND=P2;ZYG=HET;IMPACT=LOW;STRAND=1;FLAGS=cds_start_NF;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=7.961e-06;gnomAD_AFR_AF=0.0001232;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1061320 19:49490817 T ENSG00000142541 ENST00000468655 Transcript non_coding_transcript_exon_variant 173 - - - - rs1061320 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=7.961e-06;gnomAD_AFR_AF=0.0001232;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1061320 19:49490817 T ENSG00000142541 ENST00000472481 Transcript non_coding_transcript_exon_variant 317 - - - - rs1061320 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=7.961e-06;gnomAD_AFR_AF=0.0001232;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1061320 19:49490817 T ENSG00000142541 ENST00000474171 Transcript non_coding_transcript_exon_variant 87 - - - - rs1061320 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=7.961e-06;gnomAD_AFR_AF=0.0001232;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1061320 19:49490817 T ENSG00000142541 ENST00000476268 Transcript non_coding_transcript_exon_variant 968 - - - - rs1061320 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=7.961e-06;gnomAD_AFR_AF=0.0001232;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1061320 19:49490817 T ENSG00000142541 ENST00000476300 Transcript upstream_gene_variant - - - - - rs1061320 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=23;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=7.961e-06;gnomAD_AFR_AF=0.0001232;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1061320 19:49490817 T ENSG00000142541 ENST00000477613 Transcript non_coding_transcript_exon_variant 405 - - - - rs1061320 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=7.961e-06;gnomAD_AFR_AF=0.0001232;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1061320 19:49490817 T ENSG00000142541 ENST00000479992 Transcript non_coding_transcript_exon_variant 487 - - - - rs1061320 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=7.961e-06;gnomAD_AFR_AF=0.0001232;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1061320 19:49490817 T ENSG00000142541 ENST00000484279 Transcript 3_prime_UTR_variant,NMD_transcript_variant 485 - - - - rs1061320 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=7.961e-06;gnomAD_AFR_AF=0.0001232;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1061320 19:49490817 T ENSG00000142541 ENST00000486930 Transcript non_coding_transcript_exon_variant 803 - - - - rs1061320 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=7.961e-06;gnomAD_AFR_AF=0.0001232;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1061320 19:49490817 T ENSG00000142541 ENST00000488946 Transcript non_coding_transcript_exon_variant 1005 - - - - rs1061320 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=7.961e-06;gnomAD_AFR_AF=0.0001232;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1061320 19:49490817 T ENSG00000090554 ENST00000594009 Transcript downstream_gene_variant - - - - - rs1061320 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=4586;STRAND=1;SYMBOL=FLT3LG;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3766;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=7.961e-06;gnomAD_AFR_AF=0.0001232;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1061320 19:49490817 T ENSG00000273189 ENST00000595815 Transcript downstream_gene_variant - - - - - rs1061320 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=3180;STRAND=1;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=7.961e-06;gnomAD_AFR_AF=0.0001232;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1061320 19:49490817 T ENSG00000090554 ENST00000596435 Transcript downstream_gene_variant - - - - - rs1061320 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=4586;STRAND=1;SYMBOL=FLT3LG;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3766;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=7.961e-06;gnomAD_AFR_AF=0.0001232;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1061320 19:49490817 T ENSG00000090554 ENST00000597551 Transcript downstream_gene_variant - - - - - rs1061320 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=4586;STRAND=1;SYMBOL=FLT3LG;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3766;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=7.961e-06;gnomAD_AFR_AF=0.0001232;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1061320 19:49490817 T ENSG00000090554 ENST00000598472 Transcript downstream_gene_variant - - - - - rs1061320 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=4788;STRAND=1;SYMBOL=FLT3LG;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3766;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=7.961e-06;gnomAD_AFR_AF=0.0001232;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1061320 19:49490817 T ENSG00000090554 ENST00000598555 Transcript downstream_gene_variant - - - - - rs1061320 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=4586;STRAND=1;FLAGS=cds_start_NF;SYMBOL=FLT3LG;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3766;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=7.961e-06;gnomAD_AFR_AF=0.0001232;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1061320 19:49490817 T ENSG00000269469 ENST00000599536 Transcript downstream_gene_variant - - - - - rs1061320 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=4586;STRAND=1;FLAGS=cds_start_NF;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=7.961e-06;gnomAD_AFR_AF=0.0001232;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1061320 19:49490817 T ENSG00000090554 ENST00000600084 Transcript downstream_gene_variant - - - - - rs1061320 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=4586;STRAND=1;SYMBOL=FLT3LG;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3766;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=7.961e-06;gnomAD_AFR_AF=0.0001232;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1061320 19:49490817 T ENSG00000090554 ENST00000600429 Transcript downstream_gene_variant - - - - - rs1061320 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=4666;STRAND=1;SYMBOL=FLT3LG;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3766;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=7.961e-06;gnomAD_AFR_AF=0.0001232;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1061320 19:49490817 T ENSG00000090554 ENST00000601800 Transcript downstream_gene_variant - - - - - rs1061320 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=4586;STRAND=1;SYMBOL=FLT3LG;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3766;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=7.961e-06;gnomAD_AFR_AF=0.0001232;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1061320 19:49490817 T ENSG00000142541 ENST00000621674 Transcript synonymous_variant 295 112 38 L Ctg/Ttg rs1061320 IND=P2;ZYG=HET;IMPACT=LOW;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=7.961e-06;gnomAD_AFR_AF=0.0001232;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1061320 19:49490817 T ENSG00000142541 ENST00000624069 Transcript 3_prime_UTR_variant,NMD_transcript_variant 312 - - - - rs1061320 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=7.961e-06;gnomAD_AFR_AF=0.0001232;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1061320 19:49490817 T ENSG00000142541 ENST00000676477 Transcript non_coding_transcript_exon_variant 626 - - - - rs1061320 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=7.961e-06;gnomAD_AFR_AF=0.0001232;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1061320 19:49490817 T ENSG00000142541 ENST00000676556 Transcript non_coding_transcript_exon_variant 618 - - - - rs1061320 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=7.961e-06;gnomAD_AFR_AF=0.0001232;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1061320 19:49490817 T ENSG00000142541 ENST00000677048 Transcript non_coding_transcript_exon_variant 1004 - - - - rs1061320 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=7.961e-06;gnomAD_AFR_AF=0.0001232;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1061320 19:49490817 T ENSG00000142541 ENST00000678146 Transcript non_coding_transcript_exon_variant 1004 - - - - rs1061320 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=7.961e-06;gnomAD_AFR_AF=0.0001232;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1061320 19:49490817 T ENSG00000142541 ENST00000678187 Transcript non_coding_transcript_exon_variant 1034 - - - - rs1061320 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=7.961e-06;gnomAD_AFR_AF=0.0001232;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1061320 19:49490817 T ENSG00000142541 ENST00000678510 Transcript synonymous_variant 302 280 94 L Ctg/Ttg rs1061320 IND=P2;ZYG=HET;IMPACT=LOW;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=7.961e-06;gnomAD_AFR_AF=0.0001232;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1061320 19:49490817 T ENSG00000142541 ENST00000678713 Transcript missense_variant,NMD_transcript_variant 266 266 89 S/F tCt/tTt rs1061320 IND=P2;ZYG=HET;IMPACT=MODERATE;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;PolyPhen=unknown(0);AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=7.961e-06;gnomAD_AFR_AF=0.0001232;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1061320 19:49490817 T ENSG00000142541 ENST00000679106 Transcript synonymous_variant 415 295 99 L Ctg/Ttg rs1061320 IND=P2;ZYG=HET;IMPACT=LOW;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=7.961e-06;gnomAD_AFR_AF=0.0001232;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs542203553 19:49491229 A ENSG00000090554 ENST00000204637 Transcript downstream_gene_variant - - - - - rs542203553 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=4998;STRAND=1;SYMBOL=FLT3LG;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3766;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=2.514e-05;gnomAD_AFR_AF=0.0001296;gnomAD_AMR_AF=5.799e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0.0003322;gnomAD_SAS_AF=0 rs542203553 19:49491229 A ENSG00000199631 ENST00000362761 Transcript downstream_gene_variant - - - - - rs542203553 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=530;STRAND=1;SYMBOL=SNORD33;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10160;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=2.514e-05;gnomAD_AFR_AF=0.0001296;gnomAD_AMR_AF=5.799e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0.0003322;gnomAD_SAS_AF=0 rs542203553 19:49491229 A ENSG00000200259 ENST00000363389 Transcript non_coding_transcript_exon_variant 55 - - - - rs542203553 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=SNORD35A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10162;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=2.514e-05;gnomAD_AFR_AF=0.0001296;gnomAD_AMR_AF=5.799e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0.0003322;gnomAD_SAS_AF=0 rs542203553 19:49491229 A ENSG00000201675 ENST00000364805 Transcript downstream_gene_variant - - - - - rs542203553 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=1181;STRAND=1;SYMBOL=SNORD32A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10159;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=2.514e-05;gnomAD_AFR_AF=0.0001296;gnomAD_AMR_AF=5.799e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0.0003322;gnomAD_SAS_AF=0 rs542203553 19:49491229 A ENSG00000202503 ENST00000365633 Transcript downstream_gene_variant - - - - - rs542203553 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=255;STRAND=1;SYMBOL=SNORD34;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10161;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=2.514e-05;gnomAD_AFR_AF=0.0001296;gnomAD_AMR_AF=5.799e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0.0003322;gnomAD_SAS_AF=0 rs542203553 19:49491229 A ENSG00000142541 ENST00000391857 Transcript intron_variant - - - - - rs542203553 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=2.514e-05;gnomAD_AFR_AF=0.0001296;gnomAD_AMR_AF=5.799e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0.0003322;gnomAD_SAS_AF=0 rs542203553 19:49491229 A ENSG00000142541 ENST00000467825 Transcript intron_variant - - - - - rs542203553 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_start_NF;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=2.514e-05;gnomAD_AFR_AF=0.0001296;gnomAD_AMR_AF=5.799e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0.0003322;gnomAD_SAS_AF=0 rs542203553 19:49491229 A ENSG00000142541 ENST00000468655 Transcript downstream_gene_variant - - - - - rs542203553 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=3;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=2.514e-05;gnomAD_AFR_AF=0.0001296;gnomAD_AMR_AF=5.799e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0.0003322;gnomAD_SAS_AF=0 rs542203553 19:49491229 A ENSG00000142541 ENST00000472481 Transcript downstream_gene_variant - - - - - rs542203553 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=1;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=2.514e-05;gnomAD_AFR_AF=0.0001296;gnomAD_AMR_AF=5.799e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0.0003322;gnomAD_SAS_AF=0 rs542203553 19:49491229 A ENSG00000142541 ENST00000474171 Transcript intron_variant,non_coding_transcript_variant - - - - - rs542203553 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=2.514e-05;gnomAD_AFR_AF=0.0001296;gnomAD_AMR_AF=5.799e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0.0003322;gnomAD_SAS_AF=0 rs542203553 19:49491229 A ENSG00000142541 ENST00000476268 Transcript non_coding_transcript_exon_variant 1380 - - - - rs542203553 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=2.514e-05;gnomAD_AFR_AF=0.0001296;gnomAD_AMR_AF=5.799e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0.0003322;gnomAD_SAS_AF=0 rs542203553 19:49491229 A ENSG00000142541 ENST00000476300 Transcript non_coding_transcript_exon_variant 215 - - - - rs542203553 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=2.514e-05;gnomAD_AFR_AF=0.0001296;gnomAD_AMR_AF=5.799e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0.0003322;gnomAD_SAS_AF=0 rs542203553 19:49491229 A ENSG00000142541 ENST00000477613 Transcript intron_variant,non_coding_transcript_variant - - - - - rs542203553 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=2.514e-05;gnomAD_AFR_AF=0.0001296;gnomAD_AMR_AF=5.799e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0.0003322;gnomAD_SAS_AF=0 rs542203553 19:49491229 A ENSG00000142541 ENST00000479992 Transcript intron_variant,non_coding_transcript_variant - - - - - rs542203553 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=2.514e-05;gnomAD_AFR_AF=0.0001296;gnomAD_AMR_AF=5.799e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0.0003322;gnomAD_SAS_AF=0 rs542203553 19:49491229 A ENSG00000142541 ENST00000484279 Transcript intron_variant,NMD_transcript_variant - - - - - rs542203553 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=2.514e-05;gnomAD_AFR_AF=0.0001296;gnomAD_AMR_AF=5.799e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0.0003322;gnomAD_SAS_AF=0 rs542203553 19:49491229 A ENSG00000142541 ENST00000486930 Transcript non_coding_transcript_exon_variant 1040 - - - - rs542203553 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=2.514e-05;gnomAD_AFR_AF=0.0001296;gnomAD_AMR_AF=5.799e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0.0003322;gnomAD_SAS_AF=0 rs542203553 19:49491229 A ENSG00000142541 ENST00000488946 Transcript non_coding_transcript_exon_variant 1417 - - - - rs542203553 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=2.514e-05;gnomAD_AFR_AF=0.0001296;gnomAD_AMR_AF=5.799e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0.0003322;gnomAD_SAS_AF=0 rs542203553 19:49491229 A ENSG00000090554 ENST00000594009 Transcript downstream_gene_variant - - - - - rs542203553 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=4998;STRAND=1;SYMBOL=FLT3LG;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3766;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=2.514e-05;gnomAD_AFR_AF=0.0001296;gnomAD_AMR_AF=5.799e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0.0003322;gnomAD_SAS_AF=0 rs542203553 19:49491229 A ENSG00000273189 ENST00000595815 Transcript downstream_gene_variant - - - - - rs542203553 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=3592;STRAND=1;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=2.514e-05;gnomAD_AFR_AF=0.0001296;gnomAD_AMR_AF=5.799e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0.0003322;gnomAD_SAS_AF=0 rs542203553 19:49491229 A ENSG00000090554 ENST00000596435 Transcript downstream_gene_variant - - - - - rs542203553 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=4998;STRAND=1;SYMBOL=FLT3LG;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3766;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=2.514e-05;gnomAD_AFR_AF=0.0001296;gnomAD_AMR_AF=5.799e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0.0003322;gnomAD_SAS_AF=0 rs542203553 19:49491229 A ENSG00000090554 ENST00000597551 Transcript downstream_gene_variant - - - - - rs542203553 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=4998;STRAND=1;SYMBOL=FLT3LG;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3766;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=2.514e-05;gnomAD_AFR_AF=0.0001296;gnomAD_AMR_AF=5.799e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0.0003322;gnomAD_SAS_AF=0 rs542203553 19:49491229 A ENSG00000090554 ENST00000598555 Transcript downstream_gene_variant - - - - - rs542203553 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=4998;STRAND=1;FLAGS=cds_start_NF;SYMBOL=FLT3LG;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3766;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=2.514e-05;gnomAD_AFR_AF=0.0001296;gnomAD_AMR_AF=5.799e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0.0003322;gnomAD_SAS_AF=0 rs542203553 19:49491229 A ENSG00000269469 ENST00000599536 Transcript downstream_gene_variant - - - - - rs542203553 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=4998;STRAND=1;FLAGS=cds_start_NF;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=2.514e-05;gnomAD_AFR_AF=0.0001296;gnomAD_AMR_AF=5.799e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0.0003322;gnomAD_SAS_AF=0 rs542203553 19:49491229 A ENSG00000090554 ENST00000600084 Transcript downstream_gene_variant - - - - - rs542203553 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=4998;STRAND=1;SYMBOL=FLT3LG;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3766;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=2.514e-05;gnomAD_AFR_AF=0.0001296;gnomAD_AMR_AF=5.799e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0.0003322;gnomAD_SAS_AF=0 rs542203553 19:49491229 A ENSG00000090554 ENST00000601800 Transcript downstream_gene_variant - - - - - rs542203553 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=4998;STRAND=1;SYMBOL=FLT3LG;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3766;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=2.514e-05;gnomAD_AFR_AF=0.0001296;gnomAD_AMR_AF=5.799e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0.0003322;gnomAD_SAS_AF=0 rs542203553 19:49491229 A ENSG00000142541 ENST00000621674 Transcript intron_variant - - - - - rs542203553 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=2.514e-05;gnomAD_AFR_AF=0.0001296;gnomAD_AMR_AF=5.799e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0.0003322;gnomAD_SAS_AF=0 rs542203553 19:49491229 A ENSG00000142541 ENST00000624069 Transcript intron_variant,NMD_transcript_variant - - - - - rs542203553 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=2.514e-05;gnomAD_AFR_AF=0.0001296;gnomAD_AMR_AF=5.799e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0.0003322;gnomAD_SAS_AF=0 rs542203553 19:49491229 A ENSG00000142541 ENST00000676477 Transcript non_coding_transcript_exon_variant 1038 - - - - rs542203553 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=2.514e-05;gnomAD_AFR_AF=0.0001296;gnomAD_AMR_AF=5.799e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0.0003322;gnomAD_SAS_AF=0 rs542203553 19:49491229 A ENSG00000142541 ENST00000676556 Transcript intron_variant,non_coding_transcript_variant - - - - - rs542203553 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=2.514e-05;gnomAD_AFR_AF=0.0001296;gnomAD_AMR_AF=5.799e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0.0003322;gnomAD_SAS_AF=0 rs542203553 19:49491229 A ENSG00000142541 ENST00000677048 Transcript intron_variant,non_coding_transcript_variant - - - - - rs542203553 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=2.514e-05;gnomAD_AFR_AF=0.0001296;gnomAD_AMR_AF=5.799e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0.0003322;gnomAD_SAS_AF=0 rs542203553 19:49491229 A ENSG00000142541 ENST00000678146 Transcript non_coding_transcript_exon_variant 1416 - - - - rs542203553 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=2.514e-05;gnomAD_AFR_AF=0.0001296;gnomAD_AMR_AF=5.799e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0.0003322;gnomAD_SAS_AF=0 rs542203553 19:49491229 A ENSG00000142541 ENST00000678187 Transcript intron_variant,non_coding_transcript_variant - - - - - rs542203553 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=2.514e-05;gnomAD_AFR_AF=0.0001296;gnomAD_AMR_AF=5.799e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0.0003322;gnomAD_SAS_AF=0 rs542203553 19:49491229 A ENSG00000142541 ENST00000678510 Transcript intron_variant - - - - - rs542203553 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=2.514e-05;gnomAD_AFR_AF=0.0001296;gnomAD_AMR_AF=5.799e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0.0003322;gnomAD_SAS_AF=0 rs542203553 19:49491229 A ENSG00000142541 ENST00000678713 Transcript intron_variant,NMD_transcript_variant - - - - - rs542203553 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=2.514e-05;gnomAD_AFR_AF=0.0001296;gnomAD_AMR_AF=5.799e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0.0003322;gnomAD_SAS_AF=0 rs542203553 19:49491229 A ENSG00000142541 ENST00000679106 Transcript intron_variant - - - - - rs542203553 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=2.514e-05;gnomAD_AFR_AF=0.0001296;gnomAD_AMR_AF=5.799e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0.0003322;gnomAD_SAS_AF=0 rs570574723 19:49491414 G ENSG00000199631 ENST00000362761 Transcript downstream_gene_variant - - - - - rs570574723 IND=P1;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=715;STRAND=1;SYMBOL=SNORD33;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10160;AF=0.0014;AFR_AF=0;AMR_AF=0;EAS_AF=0.002;EUR_AF=0;SAS_AF=0.0051;gnomAD_AF=0.000943;gnomAD_AFR_AF=0.0001694;gnomAD_AMR_AF=9.206e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0.001581;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0.0001491;gnomAD_OTH_AF=0.0003245;gnomAD_SAS_AF=0.004696 rs570574723 19:49491414 G ENSG00000200259 ENST00000363389 Transcript downstream_gene_variant - - - - - rs570574723 IND=P1;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=154;STRAND=1;SYMBOL=SNORD35A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10162;AF=0.0014;AFR_AF=0;AMR_AF=0;EAS_AF=0.002;EUR_AF=0;SAS_AF=0.0051;gnomAD_AF=0.000943;gnomAD_AFR_AF=0.0001694;gnomAD_AMR_AF=9.206e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0.001581;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0.0001491;gnomAD_OTH_AF=0.0003245;gnomAD_SAS_AF=0.004696 rs570574723 19:49491414 G ENSG00000201675 ENST00000364805 Transcript downstream_gene_variant - - - - - rs570574723 IND=P1;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=1366;STRAND=1;SYMBOL=SNORD32A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10159;AF=0.0014;AFR_AF=0;AMR_AF=0;EAS_AF=0.002;EUR_AF=0;SAS_AF=0.0051;gnomAD_AF=0.000943;gnomAD_AFR_AF=0.0001694;gnomAD_AMR_AF=9.206e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0.001581;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0.0001491;gnomAD_OTH_AF=0.0003245;gnomAD_SAS_AF=0.004696 rs570574723 19:49491414 G ENSG00000202503 ENST00000365633 Transcript downstream_gene_variant - - - - - rs570574723 IND=P1;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=440;STRAND=1;SYMBOL=SNORD34;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10161;AF=0.0014;AFR_AF=0;AMR_AF=0;EAS_AF=0.002;EUR_AF=0;SAS_AF=0.0051;gnomAD_AF=0.000943;gnomAD_AFR_AF=0.0001694;gnomAD_AMR_AF=9.206e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0.001581;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0.0001491;gnomAD_OTH_AF=0.0003245;gnomAD_SAS_AF=0.004696 rs570574723 19:49491414 G ENSG00000142541 ENST00000391857 Transcript splice_polypyrimidine_tract_variant,intron_variant - - - - - rs570574723 IND=P1;ZYG=HOM;IMPACT=LOW;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0014;AFR_AF=0;AMR_AF=0;EAS_AF=0.002;EUR_AF=0;SAS_AF=0.0051;gnomAD_AF=0.000943;gnomAD_AFR_AF=0.0001694;gnomAD_AMR_AF=9.206e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0.001581;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0.0001491;gnomAD_OTH_AF=0.0003245;gnomAD_SAS_AF=0.004696 rs570574723 19:49491414 G ENSG00000142541 ENST00000467825 Transcript splice_polypyrimidine_tract_variant,intron_variant - - - - - rs570574723 IND=P1;ZYG=HOM;IMPACT=LOW;STRAND=1;FLAGS=cds_start_NF;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0014;AFR_AF=0;AMR_AF=0;EAS_AF=0.002;EUR_AF=0;SAS_AF=0.0051;gnomAD_AF=0.000943;gnomAD_AFR_AF=0.0001694;gnomAD_AMR_AF=9.206e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0.001581;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0.0001491;gnomAD_OTH_AF=0.0003245;gnomAD_SAS_AF=0.004696 rs570574723 19:49491414 G ENSG00000142541 ENST00000468655 Transcript downstream_gene_variant - - - - - rs570574723 IND=P1;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=188;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0014;AFR_AF=0;AMR_AF=0;EAS_AF=0.002;EUR_AF=0;SAS_AF=0.0051;gnomAD_AF=0.000943;gnomAD_AFR_AF=0.0001694;gnomAD_AMR_AF=9.206e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0.001581;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0.0001491;gnomAD_OTH_AF=0.0003245;gnomAD_SAS_AF=0.004696 rs570574723 19:49491414 G ENSG00000142541 ENST00000472481 Transcript downstream_gene_variant - - - - - rs570574723 IND=P1;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=186;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0014;AFR_AF=0;AMR_AF=0;EAS_AF=0.002;EUR_AF=0;SAS_AF=0.0051;gnomAD_AF=0.000943;gnomAD_AFR_AF=0.0001694;gnomAD_AMR_AF=9.206e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0.001581;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0.0001491;gnomAD_OTH_AF=0.0003245;gnomAD_SAS_AF=0.004696 rs570574723 19:49491414 G ENSG00000142541 ENST00000474171 Transcript splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant - - - - - rs570574723 IND=P1;ZYG=HOM;IMPACT=LOW;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0014;AFR_AF=0;AMR_AF=0;EAS_AF=0.002;EUR_AF=0;SAS_AF=0.0051;gnomAD_AF=0.000943;gnomAD_AFR_AF=0.0001694;gnomAD_AMR_AF=9.206e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0.001581;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0.0001491;gnomAD_OTH_AF=0.0003245;gnomAD_SAS_AF=0.004696 rs570574723 19:49491414 G ENSG00000142541 ENST00000476268 Transcript splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant - - - - - rs570574723 IND=P1;ZYG=HOM;IMPACT=LOW;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0014;AFR_AF=0;AMR_AF=0;EAS_AF=0.002;EUR_AF=0;SAS_AF=0.0051;gnomAD_AF=0.000943;gnomAD_AFR_AF=0.0001694;gnomAD_AMR_AF=9.206e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0.001581;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0.0001491;gnomAD_OTH_AF=0.0003245;gnomAD_SAS_AF=0.004696 rs570574723 19:49491414 G ENSG00000142541 ENST00000476300 Transcript non_coding_transcript_exon_variant 400 - - - - rs570574723 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0014;AFR_AF=0;AMR_AF=0;EAS_AF=0.002;EUR_AF=0;SAS_AF=0.0051;gnomAD_AF=0.000943;gnomAD_AFR_AF=0.0001694;gnomAD_AMR_AF=9.206e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0.001581;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0.0001491;gnomAD_OTH_AF=0.0003245;gnomAD_SAS_AF=0.004696 rs570574723 19:49491414 G ENSG00000142541 ENST00000477613 Transcript splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant - - - - - rs570574723 IND=P1;ZYG=HOM;IMPACT=LOW;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0014;AFR_AF=0;AMR_AF=0;EAS_AF=0.002;EUR_AF=0;SAS_AF=0.0051;gnomAD_AF=0.000943;gnomAD_AFR_AF=0.0001694;gnomAD_AMR_AF=9.206e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0.001581;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0.0001491;gnomAD_OTH_AF=0.0003245;gnomAD_SAS_AF=0.004696 rs570574723 19:49491414 G ENSG00000142541 ENST00000479992 Transcript splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant - - - - - rs570574723 IND=P1;ZYG=HOM;IMPACT=LOW;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0014;AFR_AF=0;AMR_AF=0;EAS_AF=0.002;EUR_AF=0;SAS_AF=0.0051;gnomAD_AF=0.000943;gnomAD_AFR_AF=0.0001694;gnomAD_AMR_AF=9.206e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0.001581;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0.0001491;gnomAD_OTH_AF=0.0003245;gnomAD_SAS_AF=0.004696 rs570574723 19:49491414 G ENSG00000142541 ENST00000484279 Transcript splice_polypyrimidine_tract_variant,intron_variant,NMD_transcript_variant - - - - - rs570574723 IND=P1;ZYG=HOM;IMPACT=LOW;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0014;AFR_AF=0;AMR_AF=0;EAS_AF=0.002;EUR_AF=0;SAS_AF=0.0051;gnomAD_AF=0.000943;gnomAD_AFR_AF=0.0001694;gnomAD_AMR_AF=9.206e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0.001581;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0.0001491;gnomAD_OTH_AF=0.0003245;gnomAD_SAS_AF=0.004696 rs570574723 19:49491414 G ENSG00000142541 ENST00000486930 Transcript downstream_gene_variant - - - - - rs570574723 IND=P1;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=26;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0014;AFR_AF=0;AMR_AF=0;EAS_AF=0.002;EUR_AF=0;SAS_AF=0.0051;gnomAD_AF=0.000943;gnomAD_AFR_AF=0.0001694;gnomAD_AMR_AF=9.206e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0.001581;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0.0001491;gnomAD_OTH_AF=0.0003245;gnomAD_SAS_AF=0.004696 rs570574723 19:49491414 G ENSG00000142541 ENST00000488946 Transcript non_coding_transcript_exon_variant 1602 - - - - rs570574723 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0014;AFR_AF=0;AMR_AF=0;EAS_AF=0.002;EUR_AF=0;SAS_AF=0.0051;gnomAD_AF=0.000943;gnomAD_AFR_AF=0.0001694;gnomAD_AMR_AF=9.206e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0.001581;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0.0001491;gnomAD_OTH_AF=0.0003245;gnomAD_SAS_AF=0.004696 rs570574723 19:49491414 G ENSG00000273189 ENST00000595815 Transcript downstream_gene_variant - - - - - rs570574723 IND=P1;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=3777;STRAND=1;AF=0.0014;AFR_AF=0;AMR_AF=0;EAS_AF=0.002;EUR_AF=0;SAS_AF=0.0051;gnomAD_AF=0.000943;gnomAD_AFR_AF=0.0001694;gnomAD_AMR_AF=9.206e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0.001581;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0.0001491;gnomAD_OTH_AF=0.0003245;gnomAD_SAS_AF=0.004696 rs570574723 19:49491414 G ENSG00000142534 ENST00000599167 Transcript upstream_gene_variant - - - - - rs570574723 IND=P1;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=4956;STRAND=1;SYMBOL=RPS11;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10384;AF=0.0014;AFR_AF=0;AMR_AF=0;EAS_AF=0.002;EUR_AF=0;SAS_AF=0.0051;gnomAD_AF=0.000943;gnomAD_AFR_AF=0.0001694;gnomAD_AMR_AF=9.206e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0.001581;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0.0001491;gnomAD_OTH_AF=0.0003245;gnomAD_SAS_AF=0.004696 rs570574723 19:49491414 G ENSG00000142534 ENST00000600027 Transcript upstream_gene_variant - - - - - rs570574723 IND=P1;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=4951;STRAND=1;SYMBOL=RPS11;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10384;AF=0.0014;AFR_AF=0;AMR_AF=0;EAS_AF=0.002;EUR_AF=0;SAS_AF=0.0051;gnomAD_AF=0.000943;gnomAD_AFR_AF=0.0001694;gnomAD_AMR_AF=9.206e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0.001581;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0.0001491;gnomAD_OTH_AF=0.0003245;gnomAD_SAS_AF=0.004696 rs570574723 19:49491414 G ENSG00000142541 ENST00000621674 Transcript splice_polypyrimidine_tract_variant,intron_variant - - - - - rs570574723 IND=P1;ZYG=HOM;IMPACT=LOW;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0014;AFR_AF=0;AMR_AF=0;EAS_AF=0.002;EUR_AF=0;SAS_AF=0.0051;gnomAD_AF=0.000943;gnomAD_AFR_AF=0.0001694;gnomAD_AMR_AF=9.206e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0.001581;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0.0001491;gnomAD_OTH_AF=0.0003245;gnomAD_SAS_AF=0.004696 rs570574723 19:49491414 G ENSG00000142541 ENST00000624069 Transcript splice_polypyrimidine_tract_variant,intron_variant,NMD_transcript_variant - - - - - rs570574723 IND=P1;ZYG=HOM;IMPACT=LOW;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0014;AFR_AF=0;AMR_AF=0;EAS_AF=0.002;EUR_AF=0;SAS_AF=0.0051;gnomAD_AF=0.000943;gnomAD_AFR_AF=0.0001694;gnomAD_AMR_AF=9.206e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0.001581;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0.0001491;gnomAD_OTH_AF=0.0003245;gnomAD_SAS_AF=0.004696 rs570574723 19:49491414 G ENSG00000142541 ENST00000676477 Transcript non_coding_transcript_exon_variant 1223 - - - - rs570574723 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0014;AFR_AF=0;AMR_AF=0;EAS_AF=0.002;EUR_AF=0;SAS_AF=0.0051;gnomAD_AF=0.000943;gnomAD_AFR_AF=0.0001694;gnomAD_AMR_AF=9.206e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0.001581;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0.0001491;gnomAD_OTH_AF=0.0003245;gnomAD_SAS_AF=0.004696 rs570574723 19:49491414 G ENSG00000142541 ENST00000676556 Transcript splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant - - - - - rs570574723 IND=P1;ZYG=HOM;IMPACT=LOW;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0014;AFR_AF=0;AMR_AF=0;EAS_AF=0.002;EUR_AF=0;SAS_AF=0.0051;gnomAD_AF=0.000943;gnomAD_AFR_AF=0.0001694;gnomAD_AMR_AF=9.206e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0.001581;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0.0001491;gnomAD_OTH_AF=0.0003245;gnomAD_SAS_AF=0.004696 rs570574723 19:49491414 G ENSG00000142541 ENST00000677048 Transcript splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant - - - - - rs570574723 IND=P1;ZYG=HOM;IMPACT=LOW;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0014;AFR_AF=0;AMR_AF=0;EAS_AF=0.002;EUR_AF=0;SAS_AF=0.0051;gnomAD_AF=0.000943;gnomAD_AFR_AF=0.0001694;gnomAD_AMR_AF=9.206e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0.001581;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0.0001491;gnomAD_OTH_AF=0.0003245;gnomAD_SAS_AF=0.004696 rs570574723 19:49491414 G ENSG00000142541 ENST00000678146 Transcript downstream_gene_variant - - - - - rs570574723 IND=P1;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=42;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0014;AFR_AF=0;AMR_AF=0;EAS_AF=0.002;EUR_AF=0;SAS_AF=0.0051;gnomAD_AF=0.000943;gnomAD_AFR_AF=0.0001694;gnomAD_AMR_AF=9.206e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0.001581;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0.0001491;gnomAD_OTH_AF=0.0003245;gnomAD_SAS_AF=0.004696 rs570574723 19:49491414 G ENSG00000142541 ENST00000678187 Transcript splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant - - - - - rs570574723 IND=P1;ZYG=HOM;IMPACT=LOW;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0014;AFR_AF=0;AMR_AF=0;EAS_AF=0.002;EUR_AF=0;SAS_AF=0.0051;gnomAD_AF=0.000943;gnomAD_AFR_AF=0.0001694;gnomAD_AMR_AF=9.206e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0.001581;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0.0001491;gnomAD_OTH_AF=0.0003245;gnomAD_SAS_AF=0.004696 rs570574723 19:49491414 G ENSG00000142541 ENST00000678510 Transcript splice_polypyrimidine_tract_variant,intron_variant - - - - - rs570574723 IND=P1;ZYG=HOM;IMPACT=LOW;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0014;AFR_AF=0;AMR_AF=0;EAS_AF=0.002;EUR_AF=0;SAS_AF=0.0051;gnomAD_AF=0.000943;gnomAD_AFR_AF=0.0001694;gnomAD_AMR_AF=9.206e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0.001581;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0.0001491;gnomAD_OTH_AF=0.0003245;gnomAD_SAS_AF=0.004696 rs570574723 19:49491414 G ENSG00000142541 ENST00000678713 Transcript splice_polypyrimidine_tract_variant,intron_variant,NMD_transcript_variant - - - - - rs570574723 IND=P1;ZYG=HOM;IMPACT=LOW;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0014;AFR_AF=0;AMR_AF=0;EAS_AF=0.002;EUR_AF=0;SAS_AF=0.0051;gnomAD_AF=0.000943;gnomAD_AFR_AF=0.0001694;gnomAD_AMR_AF=9.206e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0.001581;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0.0001491;gnomAD_OTH_AF=0.0003245;gnomAD_SAS_AF=0.004696 rs570574723 19:49491414 G ENSG00000142541 ENST00000679106 Transcript splice_polypyrimidine_tract_variant,intron_variant - - - - - rs570574723 IND=P1;ZYG=HOM;IMPACT=LOW;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0014;AFR_AF=0;AMR_AF=0;EAS_AF=0.002;EUR_AF=0;SAS_AF=0.0051;gnomAD_AF=0.000943;gnomAD_AFR_AF=0.0001694;gnomAD_AMR_AF=9.206e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0.001581;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0.0001491;gnomAD_OTH_AF=0.0003245;gnomAD_SAS_AF=0.004696 rs150697570 19:49491483 A ENSG00000142534 ENST00000270625 Transcript upstream_gene_variant - - - - - rs150697570,COSV99569374,COSV99569487 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=4951;STRAND=1;SYMBOL=RPS11;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10384;AF=0.0044;AFR_AF=0.0008;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0.0089;SAS_AF=0.0112;gnomAD_AF=0.008763;gnomAD_AFR_AF=0.001078;gnomAD_AMR_AF=0.002208;gnomAD_ASJ_AF=0.006413;gnomAD_EAS_AF=0.0001632;gnomAD_FIN_AF=0.01253;gnomAD_NFE_AF=0.01214;gnomAD_OTH_AF=0.008826;gnomAD_SAS_AF=0.01351;SOMATIC=0,1,1;PHENO=0,1,1 rs150697570 19:49491483 A ENSG00000199631 ENST00000362761 Transcript downstream_gene_variant - - - - - rs150697570,COSV99569374,COSV99569487 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=784;STRAND=1;SYMBOL=SNORD33;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10160;AF=0.0044;AFR_AF=0.0008;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0.0089;SAS_AF=0.0112;gnomAD_AF=0.008763;gnomAD_AFR_AF=0.001078;gnomAD_AMR_AF=0.002208;gnomAD_ASJ_AF=0.006413;gnomAD_EAS_AF=0.0001632;gnomAD_FIN_AF=0.01253;gnomAD_NFE_AF=0.01214;gnomAD_OTH_AF=0.008826;gnomAD_SAS_AF=0.01351;SOMATIC=0,1,1;PHENO=0,1,1 rs150697570 19:49491483 A ENSG00000200259 ENST00000363389 Transcript downstream_gene_variant - - - - - rs150697570,COSV99569374,COSV99569487 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=223;STRAND=1;SYMBOL=SNORD35A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10162;AF=0.0044;AFR_AF=0.0008;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0.0089;SAS_AF=0.0112;gnomAD_AF=0.008763;gnomAD_AFR_AF=0.001078;gnomAD_AMR_AF=0.002208;gnomAD_ASJ_AF=0.006413;gnomAD_EAS_AF=0.0001632;gnomAD_FIN_AF=0.01253;gnomAD_NFE_AF=0.01214;gnomAD_OTH_AF=0.008826;gnomAD_SAS_AF=0.01351;SOMATIC=0,1,1;PHENO=0,1,1 rs150697570 19:49491483 A ENSG00000201675 ENST00000364805 Transcript downstream_gene_variant - - - - - rs150697570,COSV99569374,COSV99569487 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=1435;STRAND=1;SYMBOL=SNORD32A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10159;AF=0.0044;AFR_AF=0.0008;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0.0089;SAS_AF=0.0112;gnomAD_AF=0.008763;gnomAD_AFR_AF=0.001078;gnomAD_AMR_AF=0.002208;gnomAD_ASJ_AF=0.006413;gnomAD_EAS_AF=0.0001632;gnomAD_FIN_AF=0.01253;gnomAD_NFE_AF=0.01214;gnomAD_OTH_AF=0.008826;gnomAD_SAS_AF=0.01351;SOMATIC=0,1,1;PHENO=0,1,1 rs150697570 19:49491483 A ENSG00000202503 ENST00000365633 Transcript downstream_gene_variant - - - - - rs150697570,COSV99569374,COSV99569487 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=509;STRAND=1;SYMBOL=SNORD34;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10161;AF=0.0044;AFR_AF=0.0008;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0.0089;SAS_AF=0.0112;gnomAD_AF=0.008763;gnomAD_AFR_AF=0.001078;gnomAD_AMR_AF=0.002208;gnomAD_ASJ_AF=0.006413;gnomAD_EAS_AF=0.0001632;gnomAD_FIN_AF=0.01253;gnomAD_NFE_AF=0.01214;gnomAD_OTH_AF=0.008826;gnomAD_SAS_AF=0.01351;SOMATIC=0,1,1;PHENO=0,1,1 rs150697570 19:49491483 A ENSG00000142541 ENST00000391857 Transcript missense_variant 483 461 154 A/D gCc/gAc rs150697570,COSV99569374,COSV99569487 IND=P3;ZYG=HOM;IMPACT=MODERATE;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;SIFT=tolerated(0.43);PolyPhen=benign(0.027);AF=0.0044;AFR_AF=0.0008;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0.0089;SAS_AF=0.0112;gnomAD_AF=0.008763;gnomAD_AFR_AF=0.001078;gnomAD_AMR_AF=0.002208;gnomAD_ASJ_AF=0.006413;gnomAD_EAS_AF=0.0001632;gnomAD_FIN_AF=0.01253;gnomAD_NFE_AF=0.01214;gnomAD_OTH_AF=0.008826;gnomAD_SAS_AF=0.01351;SOMATIC=0,1,1;PHENO=0,1,1 rs150697570 19:49491483 A ENSG00000142541 ENST00000467825 Transcript missense_variant 481 482 161 A/D gCc/gAc rs150697570,COSV99569374,COSV99569487 IND=P3;ZYG=HOM;IMPACT=MODERATE;STRAND=1;FLAGS=cds_start_NF;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;SIFT=tolerated(0.47);PolyPhen=benign(0.043);AF=0.0044;AFR_AF=0.0008;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0.0089;SAS_AF=0.0112;gnomAD_AF=0.008763;gnomAD_AFR_AF=0.001078;gnomAD_AMR_AF=0.002208;gnomAD_ASJ_AF=0.006413;gnomAD_EAS_AF=0.0001632;gnomAD_FIN_AF=0.01253;gnomAD_NFE_AF=0.01214;gnomAD_OTH_AF=0.008826;gnomAD_SAS_AF=0.01351;SOMATIC=0,1,1;PHENO=0,1,1 rs150697570 19:49491483 A ENSG00000142541 ENST00000468655 Transcript downstream_gene_variant - - - - - rs150697570,COSV99569374,COSV99569487 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=257;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0044;AFR_AF=0.0008;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0.0089;SAS_AF=0.0112;gnomAD_AF=0.008763;gnomAD_AFR_AF=0.001078;gnomAD_AMR_AF=0.002208;gnomAD_ASJ_AF=0.006413;gnomAD_EAS_AF=0.0001632;gnomAD_FIN_AF=0.01253;gnomAD_NFE_AF=0.01214;gnomAD_OTH_AF=0.008826;gnomAD_SAS_AF=0.01351;SOMATIC=0,1,1;PHENO=0,1,1 rs150697570 19:49491483 A ENSG00000142541 ENST00000472481 Transcript downstream_gene_variant - - - - - rs150697570,COSV99569374,COSV99569487 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=255;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0044;AFR_AF=0.0008;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0.0089;SAS_AF=0.0112;gnomAD_AF=0.008763;gnomAD_AFR_AF=0.001078;gnomAD_AMR_AF=0.002208;gnomAD_ASJ_AF=0.006413;gnomAD_EAS_AF=0.0001632;gnomAD_FIN_AF=0.01253;gnomAD_NFE_AF=0.01214;gnomAD_OTH_AF=0.008826;gnomAD_SAS_AF=0.01351;SOMATIC=0,1,1;PHENO=0,1,1 rs150697570 19:49491483 A ENSG00000142541 ENST00000474171 Transcript non_coding_transcript_exon_variant 428 - - - - rs150697570,COSV99569374,COSV99569487 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0044;AFR_AF=0.0008;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0.0089;SAS_AF=0.0112;gnomAD_AF=0.008763;gnomAD_AFR_AF=0.001078;gnomAD_AMR_AF=0.002208;gnomAD_ASJ_AF=0.006413;gnomAD_EAS_AF=0.0001632;gnomAD_FIN_AF=0.01253;gnomAD_NFE_AF=0.01214;gnomAD_OTH_AF=0.008826;gnomAD_SAS_AF=0.01351;SOMATIC=0,1,1;PHENO=0,1,1 rs150697570 19:49491483 A ENSG00000142541 ENST00000476268 Transcript non_coding_transcript_exon_variant 1476 - - - - rs150697570,COSV99569374,COSV99569487 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0044;AFR_AF=0.0008;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0.0089;SAS_AF=0.0112;gnomAD_AF=0.008763;gnomAD_AFR_AF=0.001078;gnomAD_AMR_AF=0.002208;gnomAD_ASJ_AF=0.006413;gnomAD_EAS_AF=0.0001632;gnomAD_FIN_AF=0.01253;gnomAD_NFE_AF=0.01214;gnomAD_OTH_AF=0.008826;gnomAD_SAS_AF=0.01351;SOMATIC=0,1,1;PHENO=0,1,1 rs150697570 19:49491483 A ENSG00000142541 ENST00000476300 Transcript non_coding_transcript_exon_variant 469 - - - - rs150697570,COSV99569374,COSV99569487 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0044;AFR_AF=0.0008;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0.0089;SAS_AF=0.0112;gnomAD_AF=0.008763;gnomAD_AFR_AF=0.001078;gnomAD_AMR_AF=0.002208;gnomAD_ASJ_AF=0.006413;gnomAD_EAS_AF=0.0001632;gnomAD_FIN_AF=0.01253;gnomAD_NFE_AF=0.01214;gnomAD_OTH_AF=0.008826;gnomAD_SAS_AF=0.01351;SOMATIC=0,1,1;PHENO=0,1,1 rs150697570 19:49491483 A ENSG00000142541 ENST00000477613 Transcript non_coding_transcript_exon_variant 571 - - - - rs150697570,COSV99569374,COSV99569487 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0044;AFR_AF=0.0008;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0.0089;SAS_AF=0.0112;gnomAD_AF=0.008763;gnomAD_AFR_AF=0.001078;gnomAD_AMR_AF=0.002208;gnomAD_ASJ_AF=0.006413;gnomAD_EAS_AF=0.0001632;gnomAD_FIN_AF=0.01253;gnomAD_NFE_AF=0.01214;gnomAD_OTH_AF=0.008826;gnomAD_SAS_AF=0.01351;SOMATIC=0,1,1;PHENO=0,1,1 rs150697570 19:49491483 A ENSG00000142541 ENST00000479992 Transcript non_coding_transcript_exon_variant 653 - - - - rs150697570,COSV99569374,COSV99569487 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0044;AFR_AF=0.0008;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0.0089;SAS_AF=0.0112;gnomAD_AF=0.008763;gnomAD_AFR_AF=0.001078;gnomAD_AMR_AF=0.002208;gnomAD_ASJ_AF=0.006413;gnomAD_EAS_AF=0.0001632;gnomAD_FIN_AF=0.01253;gnomAD_NFE_AF=0.01214;gnomAD_OTH_AF=0.008826;gnomAD_SAS_AF=0.01351;SOMATIC=0,1,1;PHENO=0,1,1 rs150697570 19:49491483 A ENSG00000142541 ENST00000484279 Transcript 3_prime_UTR_variant,NMD_transcript_variant 651 - - - - rs150697570,COSV99569374,COSV99569487 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0044;AFR_AF=0.0008;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0.0089;SAS_AF=0.0112;gnomAD_AF=0.008763;gnomAD_AFR_AF=0.001078;gnomAD_AMR_AF=0.002208;gnomAD_ASJ_AF=0.006413;gnomAD_EAS_AF=0.0001632;gnomAD_FIN_AF=0.01253;gnomAD_NFE_AF=0.01214;gnomAD_OTH_AF=0.008826;gnomAD_SAS_AF=0.01351;SOMATIC=0,1,1;PHENO=0,1,1 rs150697570 19:49491483 A ENSG00000142541 ENST00000486930 Transcript downstream_gene_variant - - - - - rs150697570,COSV99569374,COSV99569487 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=95;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0044;AFR_AF=0.0008;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0.0089;SAS_AF=0.0112;gnomAD_AF=0.008763;gnomAD_AFR_AF=0.001078;gnomAD_AMR_AF=0.002208;gnomAD_ASJ_AF=0.006413;gnomAD_EAS_AF=0.0001632;gnomAD_FIN_AF=0.01253;gnomAD_NFE_AF=0.01214;gnomAD_OTH_AF=0.008826;gnomAD_SAS_AF=0.01351;SOMATIC=0,1,1;PHENO=0,1,1 rs150697570 19:49491483 A ENSG00000142541 ENST00000488946 Transcript non_coding_transcript_exon_variant 1671 - - - - rs150697570,COSV99569374,COSV99569487 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0044;AFR_AF=0.0008;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0.0089;SAS_AF=0.0112;gnomAD_AF=0.008763;gnomAD_AFR_AF=0.001078;gnomAD_AMR_AF=0.002208;gnomAD_ASJ_AF=0.006413;gnomAD_EAS_AF=0.0001632;gnomAD_FIN_AF=0.01253;gnomAD_NFE_AF=0.01214;gnomAD_OTH_AF=0.008826;gnomAD_SAS_AF=0.01351;SOMATIC=0,1,1;PHENO=0,1,1 rs150697570 19:49491483 A ENSG00000142534 ENST00000594493 Transcript upstream_gene_variant - - - - - rs150697570,COSV99569374,COSV99569487 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=4951;STRAND=1;SYMBOL=RPS11;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10384;AF=0.0044;AFR_AF=0.0008;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0.0089;SAS_AF=0.0112;gnomAD_AF=0.008763;gnomAD_AFR_AF=0.001078;gnomAD_AMR_AF=0.002208;gnomAD_ASJ_AF=0.006413;gnomAD_EAS_AF=0.0001632;gnomAD_FIN_AF=0.01253;gnomAD_NFE_AF=0.01214;gnomAD_OTH_AF=0.008826;gnomAD_SAS_AF=0.01351;SOMATIC=0,1,1;PHENO=0,1,1 rs150697570 19:49491483 A ENSG00000273189 ENST00000595815 Transcript downstream_gene_variant - - - - - rs150697570,COSV99569374,COSV99569487 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=3846;STRAND=1;AF=0.0044;AFR_AF=0.0008;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0.0089;SAS_AF=0.0112;gnomAD_AF=0.008763;gnomAD_AFR_AF=0.001078;gnomAD_AMR_AF=0.002208;gnomAD_ASJ_AF=0.006413;gnomAD_EAS_AF=0.0001632;gnomAD_FIN_AF=0.01253;gnomAD_NFE_AF=0.01214;gnomAD_OTH_AF=0.008826;gnomAD_SAS_AF=0.01351;SOMATIC=0,1,1;PHENO=0,1,1 rs150697570 19:49491483 A ENSG00000142534 ENST00000596873 Transcript upstream_gene_variant - - - - - rs150697570,COSV99569374,COSV99569487 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=4949;STRAND=1;SYMBOL=RPS11;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10384;AF=0.0044;AFR_AF=0.0008;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0.0089;SAS_AF=0.0112;gnomAD_AF=0.008763;gnomAD_AFR_AF=0.001078;gnomAD_AMR_AF=0.002208;gnomAD_ASJ_AF=0.006413;gnomAD_EAS_AF=0.0001632;gnomAD_FIN_AF=0.01253;gnomAD_NFE_AF=0.01214;gnomAD_OTH_AF=0.008826;gnomAD_SAS_AF=0.01351;SOMATIC=0,1,1;PHENO=0,1,1 rs150697570 19:49491483 A ENSG00000142534 ENST00000599167 Transcript upstream_gene_variant - - - - - rs150697570,COSV99569374,COSV99569487 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=4887;STRAND=1;SYMBOL=RPS11;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10384;AF=0.0044;AFR_AF=0.0008;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0.0089;SAS_AF=0.0112;gnomAD_AF=0.008763;gnomAD_AFR_AF=0.001078;gnomAD_AMR_AF=0.002208;gnomAD_ASJ_AF=0.006413;gnomAD_EAS_AF=0.0001632;gnomAD_FIN_AF=0.01253;gnomAD_NFE_AF=0.01214;gnomAD_OTH_AF=0.008826;gnomAD_SAS_AF=0.01351;SOMATIC=0,1,1;PHENO=0,1,1 rs150697570 19:49491483 A ENSG00000142534 ENST00000599561 Transcript upstream_gene_variant - - - - - rs150697570,COSV99569374,COSV99569487 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=4971;STRAND=1;SYMBOL=RPS11;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10384;AF=0.0044;AFR_AF=0.0008;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0.0089;SAS_AF=0.0112;gnomAD_AF=0.008763;gnomAD_AFR_AF=0.001078;gnomAD_AMR_AF=0.002208;gnomAD_ASJ_AF=0.006413;gnomAD_EAS_AF=0.0001632;gnomAD_FIN_AF=0.01253;gnomAD_NFE_AF=0.01214;gnomAD_OTH_AF=0.008826;gnomAD_SAS_AF=0.01351;SOMATIC=0,1,1;PHENO=0,1,1 rs150697570 19:49491483 A ENSG00000142534 ENST00000600027 Transcript upstream_gene_variant - - - - - rs150697570,COSV99569374,COSV99569487 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=4882;STRAND=1;SYMBOL=RPS11;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10384;AF=0.0044;AFR_AF=0.0008;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0.0089;SAS_AF=0.0112;gnomAD_AF=0.008763;gnomAD_AFR_AF=0.001078;gnomAD_AMR_AF=0.002208;gnomAD_ASJ_AF=0.006413;gnomAD_EAS_AF=0.0001632;gnomAD_FIN_AF=0.01253;gnomAD_NFE_AF=0.01214;gnomAD_OTH_AF=0.008826;gnomAD_SAS_AF=0.01351;SOMATIC=0,1,1;PHENO=0,1,1 rs150697570 19:49491483 A ENSG00000142534 ENST00000601216 Transcript upstream_gene_variant - - - - - rs150697570,COSV99569374,COSV99569487 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=4953;STRAND=1;SYMBOL=RPS11;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10384;AF=0.0044;AFR_AF=0.0008;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0.0089;SAS_AF=0.0112;gnomAD_AF=0.008763;gnomAD_AFR_AF=0.001078;gnomAD_AMR_AF=0.002208;gnomAD_ASJ_AF=0.006413;gnomAD_EAS_AF=0.0001632;gnomAD_FIN_AF=0.01253;gnomAD_NFE_AF=0.01214;gnomAD_OTH_AF=0.008826;gnomAD_SAS_AF=0.01351;SOMATIC=0,1,1;PHENO=0,1,1 rs150697570 19:49491483 A ENSG00000142534 ENST00000601306 Transcript upstream_gene_variant - - - - - rs150697570,COSV99569374,COSV99569487 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=4983;STRAND=1;FLAGS=cds_start_NF;SYMBOL=RPS11;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10384;AF=0.0044;AFR_AF=0.0008;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0.0089;SAS_AF=0.0112;gnomAD_AF=0.008763;gnomAD_AFR_AF=0.001078;gnomAD_AMR_AF=0.002208;gnomAD_ASJ_AF=0.006413;gnomAD_EAS_AF=0.0001632;gnomAD_FIN_AF=0.01253;gnomAD_NFE_AF=0.01214;gnomAD_OTH_AF=0.008826;gnomAD_SAS_AF=0.01351;SOMATIC=0,1,1;PHENO=0,1,1 rs150697570 19:49491483 A ENSG00000142534 ENST00000602252 Transcript upstream_gene_variant - - - - - rs150697570,COSV99569374,COSV99569487 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=4948;STRAND=1;SYMBOL=RPS11;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10384;AF=0.0044;AFR_AF=0.0008;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0.0089;SAS_AF=0.0112;gnomAD_AF=0.008763;gnomAD_AFR_AF=0.001078;gnomAD_AMR_AF=0.002208;gnomAD_ASJ_AF=0.006413;gnomAD_EAS_AF=0.0001632;gnomAD_FIN_AF=0.01253;gnomAD_NFE_AF=0.01214;gnomAD_OTH_AF=0.008826;gnomAD_SAS_AF=0.01351;SOMATIC=0,1,1;PHENO=0,1,1 rs150697570 19:49491483 A ENSG00000142541 ENST00000621674 Transcript missense_variant 461 278 93 A/D gCc/gAc rs150697570,COSV99569374,COSV99569487 IND=P3;ZYG=HOM;IMPACT=MODERATE;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;SIFT=tolerated(0.45);PolyPhen=benign(0.027);AF=0.0044;AFR_AF=0.0008;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0.0089;SAS_AF=0.0112;gnomAD_AF=0.008763;gnomAD_AFR_AF=0.001078;gnomAD_AMR_AF=0.002208;gnomAD_ASJ_AF=0.006413;gnomAD_EAS_AF=0.0001632;gnomAD_FIN_AF=0.01253;gnomAD_NFE_AF=0.01214;gnomAD_OTH_AF=0.008826;gnomAD_SAS_AF=0.01351;SOMATIC=0,1,1;PHENO=0,1,1 rs150697570 19:49491483 A ENSG00000142541 ENST00000624069 Transcript 3_prime_UTR_variant,NMD_transcript_variant 478 - - - - rs150697570,COSV99569374,COSV99569487 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0044;AFR_AF=0.0008;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0.0089;SAS_AF=0.0112;gnomAD_AF=0.008763;gnomAD_AFR_AF=0.001078;gnomAD_AMR_AF=0.002208;gnomAD_ASJ_AF=0.006413;gnomAD_EAS_AF=0.0001632;gnomAD_FIN_AF=0.01253;gnomAD_NFE_AF=0.01214;gnomAD_OTH_AF=0.008826;gnomAD_SAS_AF=0.01351;SOMATIC=0,1,1;PHENO=0,1,1 rs150697570 19:49491483 A ENSG00000142541 ENST00000676477 Transcript non_coding_transcript_exon_variant 1292 - - - - rs150697570,COSV99569374,COSV99569487 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0044;AFR_AF=0.0008;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0.0089;SAS_AF=0.0112;gnomAD_AF=0.008763;gnomAD_AFR_AF=0.001078;gnomAD_AMR_AF=0.002208;gnomAD_ASJ_AF=0.006413;gnomAD_EAS_AF=0.0001632;gnomAD_FIN_AF=0.01253;gnomAD_NFE_AF=0.01214;gnomAD_OTH_AF=0.008826;gnomAD_SAS_AF=0.01351;SOMATIC=0,1,1;PHENO=0,1,1 rs150697570 19:49491483 A ENSG00000142541 ENST00000676556 Transcript non_coding_transcript_exon_variant 784 - - - - rs150697570,COSV99569374,COSV99569487 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0044;AFR_AF=0.0008;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0.0089;SAS_AF=0.0112;gnomAD_AF=0.008763;gnomAD_AFR_AF=0.001078;gnomAD_AMR_AF=0.002208;gnomAD_ASJ_AF=0.006413;gnomAD_EAS_AF=0.0001632;gnomAD_FIN_AF=0.01253;gnomAD_NFE_AF=0.01214;gnomAD_OTH_AF=0.008826;gnomAD_SAS_AF=0.01351;SOMATIC=0,1,1;PHENO=0,1,1 rs150697570 19:49491483 A ENSG00000142541 ENST00000677048 Transcript non_coding_transcript_exon_variant 1170 - - - - rs150697570,COSV99569374,COSV99569487 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0044;AFR_AF=0.0008;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0.0089;SAS_AF=0.0112;gnomAD_AF=0.008763;gnomAD_AFR_AF=0.001078;gnomAD_AMR_AF=0.002208;gnomAD_ASJ_AF=0.006413;gnomAD_EAS_AF=0.0001632;gnomAD_FIN_AF=0.01253;gnomAD_NFE_AF=0.01214;gnomAD_OTH_AF=0.008826;gnomAD_SAS_AF=0.01351;SOMATIC=0,1,1;PHENO=0,1,1 rs150697570 19:49491483 A ENSG00000142541 ENST00000678146 Transcript downstream_gene_variant - - - - - rs150697570,COSV99569374,COSV99569487 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=111;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0044;AFR_AF=0.0008;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0.0089;SAS_AF=0.0112;gnomAD_AF=0.008763;gnomAD_AFR_AF=0.001078;gnomAD_AMR_AF=0.002208;gnomAD_ASJ_AF=0.006413;gnomAD_EAS_AF=0.0001632;gnomAD_FIN_AF=0.01253;gnomAD_NFE_AF=0.01214;gnomAD_OTH_AF=0.008826;gnomAD_SAS_AF=0.01351;SOMATIC=0,1,1;PHENO=0,1,1 rs150697570 19:49491483 A ENSG00000142541 ENST00000678187 Transcript non_coding_transcript_exon_variant 1375 - - - - rs150697570,COSV99569374,COSV99569487 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0044;AFR_AF=0.0008;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0.0089;SAS_AF=0.0112;gnomAD_AF=0.008763;gnomAD_AFR_AF=0.001078;gnomAD_AMR_AF=0.002208;gnomAD_ASJ_AF=0.006413;gnomAD_EAS_AF=0.0001632;gnomAD_FIN_AF=0.01253;gnomAD_NFE_AF=0.01214;gnomAD_OTH_AF=0.008826;gnomAD_SAS_AF=0.01351;SOMATIC=0,1,1;PHENO=0,1,1 rs150697570 19:49491483 A ENSG00000142541 ENST00000678510 Transcript missense_variant 468 446 149 A/D gCc/gAc rs150697570,COSV99569374,COSV99569487 IND=P3;ZYG=HOM;IMPACT=MODERATE;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;SIFT=tolerated(0.4);PolyPhen=benign(0.049);AF=0.0044;AFR_AF=0.0008;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0.0089;SAS_AF=0.0112;gnomAD_AF=0.008763;gnomAD_AFR_AF=0.001078;gnomAD_AMR_AF=0.002208;gnomAD_ASJ_AF=0.006413;gnomAD_EAS_AF=0.0001632;gnomAD_FIN_AF=0.01253;gnomAD_NFE_AF=0.01214;gnomAD_OTH_AF=0.008826;gnomAD_SAS_AF=0.01351;SOMATIC=0,1,1;PHENO=0,1,1 rs150697570 19:49491483 A ENSG00000142541 ENST00000678713 Transcript 3_prime_UTR_variant,NMD_transcript_variant 432 - - - - rs150697570,COSV99569374,COSV99569487 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0044;AFR_AF=0.0008;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0.0089;SAS_AF=0.0112;gnomAD_AF=0.008763;gnomAD_AFR_AF=0.001078;gnomAD_AMR_AF=0.002208;gnomAD_ASJ_AF=0.006413;gnomAD_EAS_AF=0.0001632;gnomAD_FIN_AF=0.01253;gnomAD_NFE_AF=0.01214;gnomAD_OTH_AF=0.008826;gnomAD_SAS_AF=0.01351;SOMATIC=0,1,1;PHENO=0,1,1 rs150697570 19:49491483 A ENSG00000142541 ENST00000679106 Transcript missense_variant 581 461 154 A/D gCc/gAc rs150697570,COSV99569374,COSV99569487 IND=P3;ZYG=HOM;IMPACT=MODERATE;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;SIFT=tolerated(0.49);PolyPhen=benign(0.056);AF=0.0044;AFR_AF=0.0008;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0.0089;SAS_AF=0.0112;gnomAD_AF=0.008763;gnomAD_AFR_AF=0.001078;gnomAD_AMR_AF=0.002208;gnomAD_ASJ_AF=0.006413;gnomAD_EAS_AF=0.0001632;gnomAD_FIN_AF=0.01253;gnomAD_NFE_AF=0.01214;gnomAD_OTH_AF=0.008826;gnomAD_SAS_AF=0.01351;SOMATIC=0,1,1;PHENO=0,1,1 rs568251536 19:49492001 C ENSG00000142534 ENST00000270625 Transcript upstream_gene_variant - - - - - rs568251536 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=4433;STRAND=1;SYMBOL=RPS11;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10384;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs568251536 19:49492001 C ENSG00000199631 ENST00000362761 Transcript downstream_gene_variant - - - - - rs568251536 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1302;STRAND=1;SYMBOL=SNORD33;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10160;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs568251536 19:49492001 C ENSG00000200259 ENST00000363389 Transcript downstream_gene_variant - - - - - rs568251536 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=741;STRAND=1;SYMBOL=SNORD35A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10162;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs568251536 19:49492001 C ENSG00000201675 ENST00000364805 Transcript downstream_gene_variant - - - - - rs568251536 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1953;STRAND=1;SYMBOL=SNORD32A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10159;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs568251536 19:49492001 C ENSG00000202503 ENST00000365633 Transcript downstream_gene_variant - - - - - rs568251536 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1027;STRAND=1;SYMBOL=SNORD34;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10161;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs568251536 19:49492001 C ENSG00000142541 ENST00000391857 Transcript 3_prime_UTR_variant 820 - - - - rs568251536 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs568251536 19:49492001 C ENSG00000142541 ENST00000467825 Transcript downstream_gene_variant - - - - - rs568251536 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=158;STRAND=1;FLAGS=cds_start_NF;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs568251536 19:49492001 C ENSG00000142541 ENST00000468655 Transcript downstream_gene_variant - - - - - rs568251536 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=775;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs568251536 19:49492001 C ENSG00000142541 ENST00000472481 Transcript downstream_gene_variant - - - - - rs568251536 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=773;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs568251536 19:49492001 C ENSG00000142541 ENST00000474171 Transcript downstream_gene_variant - - - - - rs568251536 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=244;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs568251536 19:49492001 C ENSG00000142541 ENST00000476268 Transcript downstream_gene_variant - - - - - rs568251536 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=190;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs568251536 19:49492001 C ENSG00000142541 ENST00000476300 Transcript downstream_gene_variant - - - - - rs568251536 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=187;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs568251536 19:49492001 C ENSG00000142541 ENST00000477613 Transcript downstream_gene_variant - - - - - rs568251536 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=112;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs568251536 19:49492001 C ENSG00000142541 ENST00000479992 Transcript downstream_gene_variant - - - - - rs568251536 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=140;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs568251536 19:49492001 C ENSG00000142541 ENST00000484279 Transcript downstream_gene_variant - - - - - rs568251536 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=194;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs568251536 19:49492001 C ENSG00000142541 ENST00000486930 Transcript downstream_gene_variant - - - - - rs568251536 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=613;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs568251536 19:49492001 C ENSG00000142541 ENST00000488946 Transcript non_coding_transcript_exon_variant 2008 - - - - rs568251536 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs568251536 19:49492001 C ENSG00000142534 ENST00000594493 Transcript upstream_gene_variant - - - - - rs568251536 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=4433;STRAND=1;SYMBOL=RPS11;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10384;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs568251536 19:49492001 C ENSG00000273189 ENST00000595815 Transcript downstream_gene_variant - - - - - rs568251536 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=4364;STRAND=1;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs568251536 19:49492001 C ENSG00000142534 ENST00000596873 Transcript upstream_gene_variant - - - - - rs568251536 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=4431;STRAND=1;SYMBOL=RPS11;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10384;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs568251536 19:49492001 C ENSG00000142534 ENST00000599167 Transcript upstream_gene_variant - - - - - rs568251536 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=4369;STRAND=1;SYMBOL=RPS11;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10384;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs568251536 19:49492001 C ENSG00000142534 ENST00000599561 Transcript upstream_gene_variant - - - - - rs568251536 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=4453;STRAND=1;SYMBOL=RPS11;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10384;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs568251536 19:49492001 C ENSG00000142534 ENST00000600027 Transcript upstream_gene_variant - - - - - rs568251536 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=4364;STRAND=1;SYMBOL=RPS11;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10384;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs568251536 19:49492001 C ENSG00000142534 ENST00000601216 Transcript upstream_gene_variant - - - - - rs568251536 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=4435;STRAND=1;SYMBOL=RPS11;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10384;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs568251536 19:49492001 C ENSG00000142534 ENST00000601306 Transcript upstream_gene_variant - - - - - rs568251536 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=4465;STRAND=1;FLAGS=cds_start_NF;SYMBOL=RPS11;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10384;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs568251536 19:49492001 C ENSG00000142534 ENST00000602252 Transcript upstream_gene_variant - - - - - rs568251536 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=4430;STRAND=1;SYMBOL=RPS11;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10384;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs568251536 19:49492001 C ENSG00000142541 ENST00000621674 Transcript 3_prime_UTR_variant 798 - - - - rs568251536 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs568251536 19:49492001 C ENSG00000142541 ENST00000624069 Transcript 3_prime_UTR_variant,NMD_transcript_variant 815 - - - - rs568251536 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs568251536 19:49492001 C ENSG00000142541 ENST00000676477 Transcript non_coding_transcript_exon_variant 1629 - - - - rs568251536 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs568251536 19:49492001 C ENSG00000142541 ENST00000676556 Transcript non_coding_transcript_exon_variant 1121 - - - - rs568251536 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs568251536 19:49492001 C ENSG00000142541 ENST00000677048 Transcript non_coding_transcript_exon_variant 1507 - - - - rs568251536 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs568251536 19:49492001 C ENSG00000142541 ENST00000678146 Transcript downstream_gene_variant - - - - - rs568251536 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=629;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs568251536 19:49492001 C ENSG00000142541 ENST00000678187 Transcript non_coding_transcript_exon_variant 1712 - - - - rs568251536 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs568251536 19:49492001 C ENSG00000142541 ENST00000678510 Transcript 3_prime_UTR_variant 805 - - - - rs568251536 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs568251536 19:49492001 C ENSG00000142541 ENST00000678713 Transcript 3_prime_UTR_variant,NMD_transcript_variant 769 - - - - rs568251536 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs568251536 19:49492001 C ENSG00000142541 ENST00000679106 Transcript 3_prime_UTR_variant 916 - - - - rs568251536 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=RPL13A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10304;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs547755207 2:28461695 A ENSG00000163803 ENST00000416713 Transcript intron_variant - - - - - rs547755207 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_end_NF;SYMBOL=PLB1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30041;AF=0.0006;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0.001;SAS_AF=0.001 rs547755207 2:28461695 A ENSG00000242915 ENST00000469016 Transcript upstream_gene_variant - - - - - rs547755207 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1334;STRAND=-1;SYMBOL=SNRPGP7;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:39326;AF=0.0006;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0.001;SAS_AF=0.001 rs568357302 2:28471461 G ENSG00000163803 ENST00000416713 Transcript intron_variant - - - - - rs568357302 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_end_NF;SYMBOL=PLB1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30041;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs7583603 2:28474193 T ENSG00000163803 ENST00000416713 Transcript intron_variant - - - - - rs7583603 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_end_NF;SYMBOL=PLB1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30041;AF=1;AFR_AF=1;AMR_AF=1;EAS_AF=1;EUR_AF=1;SAS_AF=1 rs559304991 2:28533389 G ENSG00000163803 ENST00000327757 Transcript intron_variant - - - - - rs559304991 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=PLB1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30041;AF=0.0044;AFR_AF=0.0151;AMR_AF=0.0029;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs559304991 2:28533389 G ENSG00000163803 ENST00000404858 Transcript intron_variant - - - - - rs559304991 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_start_NF;SYMBOL=PLB1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30041;AF=0.0044;AFR_AF=0.0151;AMR_AF=0.0029;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs559304991 2:28533389 G ENSG00000163803 ENST00000416713 Transcript intron_variant - - - - - rs559304991 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_end_NF;SYMBOL=PLB1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30041;AF=0.0044;AFR_AF=0.0151;AMR_AF=0.0029;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs559304991 2:28533389 G ENSG00000163803 ENST00000422425 Transcript intron_variant - - - - - rs559304991 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=PLB1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30041;AF=0.0044;AFR_AF=0.0151;AMR_AF=0.0029;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs540958085 2:28535740 C ENSG00000163803 ENST00000327757 Transcript intron_variant - - - - - rs540958085 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=PLB1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30041;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001 rs540958085 2:28535740 C ENSG00000163803 ENST00000404858 Transcript intron_variant - - - - - rs540958085 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_start_NF;SYMBOL=PLB1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30041;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001 rs540958085 2:28535740 C ENSG00000163803 ENST00000416713 Transcript intron_variant - - - - - rs540958085 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_end_NF;SYMBOL=PLB1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30041;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001 rs540958085 2:28535740 C ENSG00000163803 ENST00000422425 Transcript intron_variant - - - - - rs540958085 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=PLB1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30041;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001 rs190900229 2:28536728 C ENSG00000163803 ENST00000327757 Transcript intron_variant - - - - - rs190900229 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=PLB1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30041;AF=0.0008;AFR_AF=0.003;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs190900229 2:28536728 C ENSG00000163803 ENST00000404858 Transcript intron_variant - - - - - rs190900229 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_start_NF;SYMBOL=PLB1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30041;AF=0.0008;AFR_AF=0.003;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs190900229 2:28536728 C ENSG00000163803 ENST00000416713 Transcript intron_variant - - - - - rs190900229 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_end_NF;SYMBOL=PLB1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30041;AF=0.0008;AFR_AF=0.003;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs190900229 2:28536728 C ENSG00000163803 ENST00000422425 Transcript intron_variant - - - - - rs190900229 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=PLB1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30041;AF=0.0008;AFR_AF=0.003;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs375019783 2:28539213 A ENSG00000163803 ENST00000327757 Transcript intron_variant - - - - - rs375019783 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=PLB1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30041;AF=0.0008;AFR_AF=0.003;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=0.000223;gnomAD_AFR_AF=0.003145;gnomAD_AMR_AF=0.0001158;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0.0001633;gnomAD_SAS_AF=0 rs375019783 2:28539213 A ENSG00000163803 ENST00000404858 Transcript intron_variant - - - - - rs375019783 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_start_NF;SYMBOL=PLB1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30041;AF=0.0008;AFR_AF=0.003;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=0.000223;gnomAD_AFR_AF=0.003145;gnomAD_AMR_AF=0.0001158;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0.0001633;gnomAD_SAS_AF=0 rs375019783 2:28539213 A ENSG00000163803 ENST00000416713 Transcript downstream_gene_variant - - - - - rs375019783 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=48;STRAND=1;FLAGS=cds_end_NF;SYMBOL=PLB1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30041;AF=0.0008;AFR_AF=0.003;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=0.000223;gnomAD_AFR_AF=0.003145;gnomAD_AMR_AF=0.0001158;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0.0001633;gnomAD_SAS_AF=0 rs375019783 2:28539213 A ENSG00000163803 ENST00000422425 Transcript intron_variant - - - - - rs375019783 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=PLB1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30041;AF=0.0008;AFR_AF=0.003;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=0.000223;gnomAD_AFR_AF=0.003145;gnomAD_AMR_AF=0.0001158;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0.0001633;gnomAD_SAS_AF=0 rs6717637 2:28595149 A ENSG00000163803 ENST00000327757 Transcript intron_variant - - - - - rs6717637 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=PLB1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30041;AF=0.0268;AFR_AF=0.0991;AMR_AF=0.0043;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs6717637 2:28595149 A ENSG00000163803 ENST00000404858 Transcript intron_variant - - - - - rs6717637 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_start_NF;SYMBOL=PLB1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30041;AF=0.0268;AFR_AF=0.0991;AMR_AF=0.0043;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs6717637 2:28595149 A ENSG00000163803 ENST00000422425 Transcript intron_variant - - - - - rs6717637 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=PLB1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30041;AF=0.0268;AFR_AF=0.0991;AMR_AF=0.0043;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs6717637 2:28595149 A ENSG00000163803 ENST00000436544 Transcript 3_prime_UTR_variant 2629 - - - - rs6717637 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_start_NF;SYMBOL=PLB1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30041;AF=0.0268;AFR_AF=0.0991;AMR_AF=0.0043;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs6717637 2:28595149 A ENSG00000163803 ENST00000481449 Transcript downstream_gene_variant - - - - - rs6717637 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=3991;STRAND=1;SYMBOL=PLB1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30041;AF=0.0268;AFR_AF=0.0991;AMR_AF=0.0043;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs551302233 2:28597532 G ENSG00000163803 ENST00000327757 Transcript intron_variant - - - - - rs551302233 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=PLB1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30041;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs551302233 2:28597532 G ENSG00000163803 ENST00000404858 Transcript intron_variant - - - - - rs551302233 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_start_NF;SYMBOL=PLB1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30041;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs551302233 2:28597532 G ENSG00000163803 ENST00000411743 Transcript upstream_gene_variant - - - - - rs551302233 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=4387;STRAND=1;FLAGS=cds_start_NF;SYMBOL=PLB1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30041;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs551302233 2:28597532 G ENSG00000163803 ENST00000422425 Transcript intron_variant - - - - - rs551302233 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=PLB1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30041;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs551302233 2:28597532 G ENSG00000163803 ENST00000436544 Transcript downstream_gene_variant - - - - - rs551302233 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1469;STRAND=1;FLAGS=cds_start_NF;SYMBOL=PLB1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30041;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs551302233 2:28597532 G ENSG00000163803 ENST00000479065 Transcript upstream_gene_variant - - - - - rs551302233 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=4355;STRAND=1;SYMBOL=PLB1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30041;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs148017311 2:28602872 T ENSG00000163803 ENST00000327757 Transcript missense_variant 2780 2725 909 R/W Cgg/Tgg rs148017311,COSV59821484 IND=P1;ZYG=HET;IMPACT=MODERATE;STRAND=1;SYMBOL=PLB1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30041;SIFT=deleterious(0.01);PolyPhen=benign(0.141);AF=0.0004;AFR_AF=0.0015;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=5.967e-05;gnomAD_AFR_AF=0.0006767;gnomAD_AMR_AF=2.893e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=5.437e-05;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0.000163;gnomAD_SAS_AF=3.266e-05;SOMATIC=0,1;PHENO=0,1 rs148017311 2:28602872 T ENSG00000163803 ENST00000404858 Transcript missense_variant 2688 2689 897 R/W Cgg/Tgg rs148017311,COSV59821484 IND=P1;ZYG=HET;IMPACT=MODERATE;STRAND=1;FLAGS=cds_start_NF;SYMBOL=PLB1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30041;SIFT=deleterious(0.01);PolyPhen=benign(0.066);AF=0.0004;AFR_AF=0.0015;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=5.967e-05;gnomAD_AFR_AF=0.0006767;gnomAD_AMR_AF=2.893e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=5.437e-05;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0.000163;gnomAD_SAS_AF=3.266e-05;SOMATIC=0,1;PHENO=0,1 rs148017311 2:28602872 T ENSG00000163803 ENST00000411743 Transcript missense_variant,NMD_transcript_variant 98 100 34 R/W Cgg/Tgg rs148017311,COSV59821484 IND=P1;ZYG=HET;IMPACT=MODERATE;STRAND=1;FLAGS=cds_start_NF;SYMBOL=PLB1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30041;SIFT=deleterious_low_confidence(0.02);PolyPhen=benign(0.157);AF=0.0004;AFR_AF=0.0015;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=5.967e-05;gnomAD_AFR_AF=0.0006767;gnomAD_AMR_AF=2.893e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=5.437e-05;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0.000163;gnomAD_SAS_AF=3.266e-05;SOMATIC=0,1;PHENO=0,1 rs148017311 2:28602872 T ENSG00000163803 ENST00000422425 Transcript missense_variant 2736 2692 898 R/W Cgg/Tgg rs148017311,COSV59821484 IND=P1;ZYG=HET;IMPACT=MODERATE;STRAND=1;SYMBOL=PLB1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30041;SIFT=deleterious(0.01);PolyPhen=benign(0.201);AF=0.0004;AFR_AF=0.0015;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=5.967e-05;gnomAD_AFR_AF=0.0006767;gnomAD_AMR_AF=2.893e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=5.437e-05;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0.000163;gnomAD_SAS_AF=3.266e-05;SOMATIC=0,1;PHENO=0,1 rs148017311 2:28602872 T ENSG00000163803 ENST00000444257 Transcript upstream_gene_variant - - - - - rs148017311,COSV59821484 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1855;STRAND=1;FLAGS=cds_start_NF;SYMBOL=PLB1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30041;AF=0.0004;AFR_AF=0.0015;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=5.967e-05;gnomAD_AFR_AF=0.0006767;gnomAD_AMR_AF=2.893e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=5.437e-05;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0.000163;gnomAD_SAS_AF=3.266e-05;SOMATIC=0,1;PHENO=0,1 rs148017311 2:28602872 T ENSG00000163803 ENST00000479065 Transcript non_coding_transcript_exon_variant 130 - - - - rs148017311,COSV59821484 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=PLB1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30041;AF=0.0004;AFR_AF=0.0015;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=5.967e-05;gnomAD_AFR_AF=0.0006767;gnomAD_AMR_AF=2.893e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=5.437e-05;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0.000163;gnomAD_SAS_AF=3.266e-05;SOMATIC=0,1;PHENO=0,1 rs6547859 2:28608081 T ENSG00000163803 ENST00000327757 Transcript intron_variant - - - - - rs6547859 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=PLB1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30041;AF=0.0549;AFR_AF=0.1959;AMR_AF=0.0216;EAS_AF=0;EUR_AF=0;SAS_AF=0.001 rs6547859 2:28608081 T ENSG00000163803 ENST00000404858 Transcript intron_variant - - - - - rs6547859 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_start_NF;SYMBOL=PLB1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30041;AF=0.0549;AFR_AF=0.1959;AMR_AF=0.0216;EAS_AF=0;EUR_AF=0;SAS_AF=0.001 rs6547859 2:28608081 T ENSG00000163803 ENST00000411743 Transcript intron_variant,NMD_transcript_variant - - - - - rs6547859 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_start_NF;SYMBOL=PLB1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30041;AF=0.0549;AFR_AF=0.1959;AMR_AF=0.0216;EAS_AF=0;EUR_AF=0;SAS_AF=0.001 rs6547859 2:28608081 T ENSG00000163803 ENST00000422425 Transcript intron_variant - - - - - rs6547859 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=PLB1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30041;AF=0.0549;AFR_AF=0.1959;AMR_AF=0.0216;EAS_AF=0;EUR_AF=0;SAS_AF=0.001 rs6547859 2:28608081 T ENSG00000163803 ENST00000444257 Transcript intron_variant,NMD_transcript_variant - - - - - rs6547859 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_start_NF;SYMBOL=PLB1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30041;AF=0.0549;AFR_AF=0.1959;AMR_AF=0.0216;EAS_AF=0;EUR_AF=0;SAS_AF=0.001 rs6547859 2:28608081 T ENSG00000163803 ENST00000479065 Transcript intron_variant,non_coding_transcript_variant - - - - - rs6547859 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=PLB1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30041;AF=0.0549;AFR_AF=0.1959;AMR_AF=0.0216;EAS_AF=0;EUR_AF=0;SAS_AF=0.001 rs565653176 2:28619028 A ENSG00000163803 ENST00000327757 Transcript intron_variant - - - - - rs565653176 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=PLB1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30041;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs565653176 2:28619028 A ENSG00000163803 ENST00000404858 Transcript intron_variant - - - - - rs565653176 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_start_NF;SYMBOL=PLB1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30041;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs565653176 2:28619028 A ENSG00000163803 ENST00000411743 Transcript intron_variant,NMD_transcript_variant - - - - - rs565653176 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_start_NF;SYMBOL=PLB1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30041;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs565653176 2:28619028 A ENSG00000163803 ENST00000422425 Transcript intron_variant - - - - - rs565653176 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=PLB1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30041;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs565653176 2:28619028 A ENSG00000163803 ENST00000444257 Transcript intron_variant,NMD_transcript_variant - - - - - rs565653176 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_start_NF;SYMBOL=PLB1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30041;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs565653176 2:28619028 A ENSG00000163803 ENST00000473272 Transcript upstream_gene_variant - - - - - rs565653176 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1644;STRAND=1;SYMBOL=PLB1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30041;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs565653176 2:28619028 A ENSG00000163803 ENST00000479065 Transcript downstream_gene_variant - - - - - rs565653176 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=576;STRAND=1;SYMBOL=PLB1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30041;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs573763622 2:28624474 T ENSG00000163803 ENST00000327757 Transcript intron_variant - - - - - rs573763622 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=PLB1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30041;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs573763622 2:28624474 T ENSG00000163803 ENST00000404858 Transcript intron_variant - - - - - rs573763622 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_start_NF;SYMBOL=PLB1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30041;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs573763622 2:28624474 T ENSG00000163803 ENST00000411743 Transcript intron_variant,NMD_transcript_variant - - - - - rs573763622 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_start_NF;SYMBOL=PLB1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30041;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs573763622 2:28624474 T ENSG00000163803 ENST00000422425 Transcript intron_variant - - - - - rs573763622 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=PLB1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30041;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs573763622 2:28624474 T ENSG00000163803 ENST00000444257 Transcript intron_variant,NMD_transcript_variant - - - - - rs573763622 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_start_NF;SYMBOL=PLB1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30041;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs573763622 2:28624474 T ENSG00000163803 ENST00000473272 Transcript intron_variant,non_coding_transcript_variant - - - - - rs573763622 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=PLB1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30041;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs112344623 2:28638891 A ENSG00000163803 ENST00000327757 Transcript intron_variant - - - - - rs112344623 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=PLB1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30041;AF=0.0136;AFR_AF=0.0484;AMR_AF=0.0043;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs112344623 2:28638891 A ENSG00000163803 ENST00000404858 Transcript intron_variant - - - - - rs112344623 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_start_NF;SYMBOL=PLB1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30041;AF=0.0136;AFR_AF=0.0484;AMR_AF=0.0043;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs112344623 2:28638891 A ENSG00000163803 ENST00000411743 Transcript intron_variant,NMD_transcript_variant - - - - - rs112344623 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_start_NF;SYMBOL=PLB1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30041;AF=0.0136;AFR_AF=0.0484;AMR_AF=0.0043;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs112344623 2:28638891 A ENSG00000163803 ENST00000422425 Transcript intron_variant - - - - - rs112344623 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=PLB1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30041;AF=0.0136;AFR_AF=0.0484;AMR_AF=0.0043;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs112344623 2:28638891 A ENSG00000230730 ENST00000431376 Transcript intron_variant,non_coding_transcript_variant - - - - - rs112344623 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;AF=0.0136;AFR_AF=0.0484;AMR_AF=0.0043;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs112344623 2:28638891 A ENSG00000163803 ENST00000436775 Transcript intron_variant - - - - - rs112344623 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_start_NF;SYMBOL=PLB1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30041;AF=0.0136;AFR_AF=0.0484;AMR_AF=0.0043;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs112344623 2:28638891 A ENSG00000163803 ENST00000444257 Transcript intron_variant,NMD_transcript_variant - - - - - rs112344623 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_start_NF;SYMBOL=PLB1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30041;AF=0.0136;AFR_AF=0.0484;AMR_AF=0.0043;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs575661641 2:209460379 T ENSG00000078018 ENST00000199940 Transcript intron_variant - - - - - rs575661641 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=MAP2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6839;AF=0.0000;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs575661641 2:209460379 T ENSG00000078018 ENST00000682079 Transcript intron_variant - - - - - rs575661641 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=MAP2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6839;AF=0.0000;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs184139608 2:209461072 C ENSG00000078018 ENST00000199940 Transcript intron_variant - - - - - rs184139608 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=MAP2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6839;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs184139608 2:209461072 C ENSG00000078018 ENST00000682079 Transcript intron_variant - - - - - rs184139608 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=MAP2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6839;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs112928364 2:209473213 T ENSG00000078018 ENST00000199940 Transcript intron_variant - - - - - rs112928364 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=MAP2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6839;AF=0.0078;AFR_AF=0.028;AMR_AF=0.0029;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs112928364 2:209473213 T ENSG00000078018 ENST00000682079 Transcript intron_variant - - - - - rs112928364 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=MAP2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6839;AF=0.0078;AFR_AF=0.028;AMR_AF=0.0029;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs551148611 2:209480656 A ENSG00000078018 ENST00000199940 Transcript intron_variant - - - - - rs551148611 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=MAP2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6839;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs551148611 2:209480656 A ENSG00000078018 ENST00000682079 Transcript intron_variant - - - - - rs551148611 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=MAP2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6839;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs559987679 2:209523356 C ENSG00000078018 ENST00000199940 Transcript intron_variant - - - - - rs559987679 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=MAP2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6839;AF=0.0008;AFR_AF=0.003;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs559987679 2:209523356 C ENSG00000078018 ENST00000682079 Transcript intron_variant - - - - - rs559987679 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=MAP2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6839;AF=0.0008;AFR_AF=0.003;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs552029731 2:209532254 T ENSG00000078018 ENST00000199940 Transcript intron_variant - - - - - rs552029731 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=MAP2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6839;AF=0.0154;AFR_AF=0.0575;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs552029731 2:209532254 T ENSG00000078018 ENST00000682079 Transcript intron_variant - - - - - rs552029731 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=MAP2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6839;AF=0.0154;AFR_AF=0.0575;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs558694782 2:209534926 G ENSG00000078018 ENST00000199940 Transcript intron_variant - - - - - rs558694782 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=MAP2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6839;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs558694782 2:209534926 G ENSG00000078018 ENST00000682079 Transcript intron_variant - - - - - rs558694782 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=MAP2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6839;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs188085256 2:209560912 G ENSG00000078018 ENST00000199940 Transcript intron_variant - - - - - rs188085256 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=MAP2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6839;AF=0.0010;AFR_AF=0.003;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs188085256 2:209560912 G ENSG00000078018 ENST00000682079 Transcript intron_variant - - - - - rs188085256 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=MAP2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6839;AF=0.0010;AFR_AF=0.003;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs550563138 2:209563393 G ENSG00000078018 ENST00000199940 Transcript intron_variant - - - - - rs550563138 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=MAP2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6839;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs550563138 2:209563393 G ENSG00000078018 ENST00000682079 Transcript intron_variant - - - - - rs550563138 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=MAP2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6839;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs552425029 2:209630280 G ENSG00000078018 ENST00000199940 Transcript intron_variant - - - - - rs552425029 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=MAP2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6839;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs552425029 2:209630280 G ENSG00000078018 ENST00000360351 Transcript intron_variant - - - - - rs552425029 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=MAP2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6839;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs552425029 2:209630280 G ENSG00000078018 ENST00000361559 Transcript intron_variant - - - - - rs552425029 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=MAP2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6839;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs552425029 2:209630280 G ENSG00000078018 ENST00000392193 Transcript intron_variant - - - - - rs552425029 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_end_NF;SYMBOL=MAP2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6839;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs552425029 2:209630280 G ENSG00000078018 ENST00000392194 Transcript intron_variant - - - - - rs552425029 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=MAP2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6839;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs552425029 2:209630280 G ENSG00000078018 ENST00000445941 Transcript intron_variant - - - - - rs552425029 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_end_NF;SYMBOL=MAP2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6839;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs552425029 2:209630280 G ENSG00000078018 ENST00000673860 Transcript intron_variant - - - - - rs552425029 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=MAP2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6839;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs552425029 2:209630280 G ENSG00000078018 ENST00000682079 Transcript intron_variant - - - - - rs552425029 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=MAP2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6839;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs140984073 2:209633993 C ENSG00000078018 ENST00000199940 Transcript intron_variant - - - - - rs140984073 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=MAP2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6839;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs140984073 2:209633993 C ENSG00000078018 ENST00000360351 Transcript intron_variant - - - - - rs140984073 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=MAP2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6839;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs140984073 2:209633993 C ENSG00000078018 ENST00000361559 Transcript intron_variant - - - - - rs140984073 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=MAP2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6839;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs140984073 2:209633993 C ENSG00000078018 ENST00000392193 Transcript intron_variant - - - - - rs140984073 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_end_NF;SYMBOL=MAP2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6839;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs140984073 2:209633993 C ENSG00000078018 ENST00000392194 Transcript intron_variant - - - - - rs140984073 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=MAP2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6839;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs140984073 2:209633993 C ENSG00000078018 ENST00000445941 Transcript intron_variant - - - - - rs140984073 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_end_NF;SYMBOL=MAP2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6839;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs140984073 2:209633993 C ENSG00000078018 ENST00000673860 Transcript intron_variant - - - - - rs140984073 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=MAP2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6839;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs140984073 2:209633993 C ENSG00000078018 ENST00000682079 Transcript intron_variant - - - - - rs140984073 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=MAP2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6839;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs11891356 2:209658490 G ENSG00000078018 ENST00000199940 Transcript intron_variant - - - - - rs11891356,COSV52281424 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=MAP2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6839;AF=0.0421;AFR_AF=0.1528;AMR_AF=0.0115;EAS_AF=0;EUR_AF=0.001;SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs11891356 2:209658490 G ENSG00000078018 ENST00000360351 Transcript intron_variant - - - - - rs11891356,COSV52281424 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=MAP2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6839;AF=0.0421;AFR_AF=0.1528;AMR_AF=0.0115;EAS_AF=0;EUR_AF=0.001;SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs11891356 2:209658490 G ENSG00000078018 ENST00000361559 Transcript intron_variant - - - - - rs11891356,COSV52281424 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=MAP2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6839;AF=0.0421;AFR_AF=0.1528;AMR_AF=0.0115;EAS_AF=0;EUR_AF=0.001;SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs11891356 2:209658490 G ENSG00000078018 ENST00000392193 Transcript intron_variant - - - - - rs11891356,COSV52281424 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_end_NF;SYMBOL=MAP2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6839;AF=0.0421;AFR_AF=0.1528;AMR_AF=0.0115;EAS_AF=0;EUR_AF=0.001;SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs11891356 2:209658490 G ENSG00000078018 ENST00000392194 Transcript intron_variant - - - - - rs11891356,COSV52281424 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=MAP2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6839;AF=0.0421;AFR_AF=0.1528;AMR_AF=0.0115;EAS_AF=0;EUR_AF=0.001;SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs11891356 2:209658490 G ENSG00000078018 ENST00000445941 Transcript intron_variant - - - - - rs11891356,COSV52281424 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_end_NF;SYMBOL=MAP2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6839;AF=0.0421;AFR_AF=0.1528;AMR_AF=0.0115;EAS_AF=0;EUR_AF=0.001;SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs11891356 2:209658490 G ENSG00000078018 ENST00000447185 Transcript intron_variant - - - - - rs11891356,COSV52281424 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=MAP2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6839;AF=0.0421;AFR_AF=0.1528;AMR_AF=0.0115;EAS_AF=0;EUR_AF=0.001;SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs11891356 2:209658490 G ENSG00000078018 ENST00000452717 Transcript intron_variant - - - - - rs11891356,COSV52281424 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_end_NF,cds_start_NF;SYMBOL=MAP2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6839;AF=0.0421;AFR_AF=0.1528;AMR_AF=0.0115;EAS_AF=0;EUR_AF=0.001;SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs11891356 2:209658490 G ENSG00000078018 ENST00000471619 Transcript upstream_gene_variant - - - - - rs11891356,COSV52281424 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2975;STRAND=1;SYMBOL=MAP2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6839;AF=0.0421;AFR_AF=0.1528;AMR_AF=0.0115;EAS_AF=0;EUR_AF=0.001;SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs11891356 2:209658490 G ENSG00000078018 ENST00000482864 Transcript upstream_gene_variant - - - - - rs11891356,COSV52281424 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=3025;STRAND=1;SYMBOL=MAP2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6839;AF=0.0421;AFR_AF=0.1528;AMR_AF=0.0115;EAS_AF=0;EUR_AF=0.001;SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs11891356 2:209658490 G ENSG00000078018 ENST00000673860 Transcript intron_variant - - - - - rs11891356,COSV52281424 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=MAP2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6839;AF=0.0421;AFR_AF=0.1528;AMR_AF=0.0115;EAS_AF=0;EUR_AF=0.001;SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs11891356 2:209658490 G ENSG00000078018 ENST00000682079 Transcript intron_variant - - - - - rs11891356,COSV52281424 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=MAP2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6839;AF=0.0421;AFR_AF=0.1528;AMR_AF=0.0115;EAS_AF=0;EUR_AF=0.001;SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs16843621 2:209731149 C ENSG00000078018 ENST00000199940 Transcript downstream_gene_variant - - - - - rs16843621 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=631;STRAND=1;SYMBOL=MAP2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6839;AF=0.0082;AFR_AF=0.0008;AMR_AF=0.0216;EAS_AF=0.0238;EUR_AF=0;SAS_AF=0.001 rs16843621 2:209731149 C ENSG00000078018 ENST00000360351 Transcript 3_prime_UTR_variant 6742 - - - - rs16843621 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=MAP2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6839;AF=0.0082;AFR_AF=0.0008;AMR_AF=0.0216;EAS_AF=0.0238;EUR_AF=0;SAS_AF=0.001 rs16843621 2:209731149 C ENSG00000078018 ENST00000361559 Transcript downstream_gene_variant - - - - - rs16843621 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=626;STRAND=1;SYMBOL=MAP2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6839;AF=0.0082;AFR_AF=0.0008;AMR_AF=0.0216;EAS_AF=0.0238;EUR_AF=0;SAS_AF=0.001 rs16843621 2:209731149 C ENSG00000078018 ENST00000392194 Transcript 3_prime_UTR_variant 2334 - - - - rs16843621 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=MAP2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6839;AF=0.0082;AFR_AF=0.0008;AMR_AF=0.0216;EAS_AF=0.0238;EUR_AF=0;SAS_AF=0.001 rs16843621 2:209731149 C ENSG00000078018 ENST00000447185 Transcript downstream_gene_variant - - - - - rs16843621 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=752;STRAND=1;SYMBOL=MAP2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6839;AF=0.0082;AFR_AF=0.0008;AMR_AF=0.0216;EAS_AF=0.0238;EUR_AF=0;SAS_AF=0.001 rs16843621 2:209731149 C ENSG00000078018 ENST00000475600 Transcript downstream_gene_variant - - - - - rs16843621 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1281;STRAND=1;SYMBOL=MAP2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6839;AF=0.0082;AFR_AF=0.0008;AMR_AF=0.0216;EAS_AF=0.0238;EUR_AF=0;SAS_AF=0.001 rs16843621 2:209731149 C ENSG00000078018 ENST00000673860 Transcript 3_prime_UTR_variant 7043 - - - - rs16843621 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=MAP2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6839;AF=0.0082;AFR_AF=0.0008;AMR_AF=0.0216;EAS_AF=0.0238;EUR_AF=0;SAS_AF=0.001 rs16843621 2:209731149 C ENSG00000078018 ENST00000682079 Transcript 3_prime_UTR_variant 6687 - - - - rs16843621 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=MAP2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6839;AF=0.0082;AFR_AF=0.0008;AMR_AF=0.0216;EAS_AF=0.0238;EUR_AF=0;SAS_AF=0.001 rs553151966 20:45366551 C ENSG00000204070 ENST00000243918 Transcript intron_variant - - - - - rs553151966 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=SYS1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16162;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs553151966 20:45366551 C ENSG00000204070 ENST00000372727 Transcript intron_variant - - - - - rs553151966 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=SYS1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16162;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs553151966 20:45366551 C ENSG00000204070 ENST00000414310 Transcript intron_variant - - - - - rs553151966 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=SYS1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16162;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs553151966 20:45366551 C ENSG00000254806 ENST00000419593 Transcript intron_variant,NMD_transcript_variant - - - - - rs553151966 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=SYS1-DBNDD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:33535;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs553151966 20:45366551 C ENSG00000204070 ENST00000426004 Transcript intron_variant - - - - - rs553151966 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=SYS1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16162;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs553151966 20:45366551 C ENSG00000254806 ENST00000452133 Transcript intron_variant,NMD_transcript_variant - - - - - rs553151966 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=SYS1-DBNDD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:33535;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs553151966 20:45366551 C ENSG00000204070 ENST00000453003 Transcript intron_variant - - - - - rs553151966 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_end_NF;SYMBOL=SYS1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16162;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs553151966 20:45366551 C ENSG00000204070 ENST00000457307 Transcript intron_variant,NMD_transcript_variant - - - - - rs553151966 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=SYS1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16162;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs553151966 20:45366551 C ENSG00000254806 ENST00000458187 Transcript intron_variant,NMD_transcript_variant - - - - - rs553151966 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=SYS1-DBNDD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:33535;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs553151966 20:45366551 C ENSG00000204070 ENST00000461890 Transcript downstream_gene_variant - - - - - rs553151966 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=683;STRAND=1;SYMBOL=SYS1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16162;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs553151966 20:45366551 C ENSG00000254806 ENST00000475242 Transcript intron_variant,non_coding_transcript_variant - - - - - rs553151966 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=SYS1-DBNDD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:33535;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs553151966 20:45366551 C ENSG00000204070 ENST00000479779 Transcript intron_variant,non_coding_transcript_variant - - - - - rs553151966 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=SYS1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16162;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs542643785 20:45370629 C ENSG00000204070 ENST00000243918 Transcript downstream_gene_variant - - - - - rs542643785 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1420;STRAND=1;SYMBOL=SYS1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16162;AF=0.0010;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.005;SAS_AF=0 rs542643785 20:45370629 C ENSG00000124251 ENST00000372726 Transcript downstream_gene_variant - - - - - rs542643785 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1928;STRAND=-1;SYMBOL=TP53TG5;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:15856;AF=0.0010;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.005;SAS_AF=0 rs542643785 20:45370629 C ENSG00000204070 ENST00000372727 Transcript downstream_gene_variant - - - - - rs542643785 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=3415;STRAND=1;SYMBOL=SYS1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16162;AF=0.0010;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.005;SAS_AF=0 rs542643785 20:45370629 C ENSG00000204070 ENST00000414310 Transcript downstream_gene_variant - - - - - rs542643785 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=3404;STRAND=1;SYMBOL=SYS1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16162;AF=0.0010;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.005;SAS_AF=0 rs542643785 20:45370629 C ENSG00000254806 ENST00000419593 Transcript intron_variant,NMD_transcript_variant - - - - - rs542643785 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=SYS1-DBNDD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:33535;AF=0.0010;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.005;SAS_AF=0 rs542643785 20:45370629 C ENSG00000204070 ENST00000426004 Transcript intron_variant - - - - - rs542643785 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=SYS1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16162;AF=0.0010;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.005;SAS_AF=0 rs542643785 20:45370629 C ENSG00000254806 ENST00000452133 Transcript intron_variant,NMD_transcript_variant - - - - - rs542643785 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=SYS1-DBNDD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:33535;AF=0.0010;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.005;SAS_AF=0 rs542643785 20:45370629 C ENSG00000204070 ENST00000453003 Transcript downstream_gene_variant - - - - - rs542643785 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=3630;STRAND=1;FLAGS=cds_end_NF;SYMBOL=SYS1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16162;AF=0.0010;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.005;SAS_AF=0 rs542643785 20:45370629 C ENSG00000204070 ENST00000457307 Transcript downstream_gene_variant - - - - - rs542643785 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=3205;STRAND=1;SYMBOL=SYS1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16162;AF=0.0010;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.005;SAS_AF=0 rs542643785 20:45370629 C ENSG00000254806 ENST00000458187 Transcript intron_variant,NMD_transcript_variant - - - - - rs542643785 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=SYS1-DBNDD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:33535;AF=0.0010;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.005;SAS_AF=0 rs542643785 20:45370629 C ENSG00000204070 ENST00000461890 Transcript downstream_gene_variant - - - - - rs542643785 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=4761;STRAND=1;SYMBOL=SYS1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16162;AF=0.0010;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.005;SAS_AF=0 rs542643785 20:45370629 C ENSG00000254806 ENST00000475242 Transcript intron_variant,non_coding_transcript_variant - - - - - rs542643785 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=SYS1-DBNDD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:33535;AF=0.0010;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.005;SAS_AF=0 rs542643785 20:45370629 C ENSG00000204070 ENST00000479779 Transcript downstream_gene_variant - - - - - rs542643785 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=3201;STRAND=1;SYMBOL=SYS1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16162;AF=0.0010;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.005;SAS_AF=0 rs542643785 20:45370629 C ENSG00000124251 ENST00000494455 Transcript downstream_gene_variant - - - - - rs542643785 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=4848;STRAND=-1;SYMBOL=TP53TG5;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:15856;AF=0.0010;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.005;SAS_AF=0 rs572711835 20:45371029 T ENSG00000204070 ENST00000243918 Transcript downstream_gene_variant - - - - - rs572711835 IND=P1;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=1820;STRAND=1;SYMBOL=SYS1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16162;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs572711835 20:45371029 T ENSG00000124251 ENST00000372726 Transcript downstream_gene_variant - - - - - rs572711835 IND=P1;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=1528;STRAND=-1;SYMBOL=TP53TG5;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:15856;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs572711835 20:45371029 T ENSG00000204070 ENST00000372727 Transcript downstream_gene_variant - - - - - rs572711835 IND=P1;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=3815;STRAND=1;SYMBOL=SYS1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16162;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs572711835 20:45371029 T ENSG00000204070 ENST00000414310 Transcript downstream_gene_variant - - - - - rs572711835 IND=P1;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=3804;STRAND=1;SYMBOL=SYS1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16162;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs572711835 20:45371029 T ENSG00000254806 ENST00000419593 Transcript intron_variant,NMD_transcript_variant - - - - - rs572711835 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=SYS1-DBNDD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:33535;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs572711835 20:45371029 T ENSG00000204070 ENST00000426004 Transcript intron_variant - - - - - rs572711835 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=SYS1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16162;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs572711835 20:45371029 T ENSG00000254806 ENST00000452133 Transcript intron_variant,NMD_transcript_variant - - - - - rs572711835 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=SYS1-DBNDD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:33535;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs572711835 20:45371029 T ENSG00000204070 ENST00000453003 Transcript downstream_gene_variant - - - - - rs572711835 IND=P1;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=4030;STRAND=1;FLAGS=cds_end_NF;SYMBOL=SYS1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16162;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs572711835 20:45371029 T ENSG00000204070 ENST00000457307 Transcript downstream_gene_variant - - - - - rs572711835 IND=P1;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=3605;STRAND=1;SYMBOL=SYS1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16162;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs572711835 20:45371029 T ENSG00000254806 ENST00000458187 Transcript intron_variant,NMD_transcript_variant - - - - - rs572711835 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=SYS1-DBNDD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:33535;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs572711835 20:45371029 T ENSG00000254806 ENST00000475242 Transcript intron_variant,non_coding_transcript_variant - - - - - rs572711835 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=SYS1-DBNDD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:33535;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs572711835 20:45371029 T ENSG00000204070 ENST00000479779 Transcript downstream_gene_variant - - - - - rs572711835 IND=P1;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=3601;STRAND=1;SYMBOL=SYS1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16162;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs572711835 20:45371029 T ENSG00000124251 ENST00000494455 Transcript downstream_gene_variant - - - - - rs572711835 IND=P1;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=4448;STRAND=-1;SYMBOL=TP53TG5;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:15856;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs144298785 20:45371797 T ENSG00000204070 ENST00000243918 Transcript downstream_gene_variant - - - - - rs144298785 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2588;STRAND=1;SYMBOL=SYS1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16162;AF=0.0014;AFR_AF=0;AMR_AF=0.0086;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs144298785 20:45371797 T ENSG00000124251 ENST00000372726 Transcript downstream_gene_variant - - - - - rs144298785 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=760;STRAND=-1;SYMBOL=TP53TG5;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:15856;AF=0.0014;AFR_AF=0;AMR_AF=0.0086;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs144298785 20:45371797 T ENSG00000204070 ENST00000372727 Transcript downstream_gene_variant - - - - - rs144298785 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=4583;STRAND=1;SYMBOL=SYS1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16162;AF=0.0014;AFR_AF=0;AMR_AF=0.0086;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs144298785 20:45371797 T ENSG00000204070 ENST00000414310 Transcript downstream_gene_variant - - - - - rs144298785 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=4572;STRAND=1;SYMBOL=SYS1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16162;AF=0.0014;AFR_AF=0;AMR_AF=0.0086;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs144298785 20:45371797 T ENSG00000254806 ENST00000419593 Transcript intron_variant,NMD_transcript_variant - - - - - rs144298785 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=SYS1-DBNDD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:33535;AF=0.0014;AFR_AF=0;AMR_AF=0.0086;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs144298785 20:45371797 T ENSG00000204070 ENST00000426004 Transcript intron_variant - - - - - rs144298785 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=SYS1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16162;AF=0.0014;AFR_AF=0;AMR_AF=0.0086;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs144298785 20:45371797 T ENSG00000254806 ENST00000452133 Transcript intron_variant,NMD_transcript_variant - - - - - rs144298785 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=SYS1-DBNDD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:33535;AF=0.0014;AFR_AF=0;AMR_AF=0.0086;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs144298785 20:45371797 T ENSG00000204070 ENST00000453003 Transcript downstream_gene_variant - - - - - rs144298785 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=4798;STRAND=1;FLAGS=cds_end_NF;SYMBOL=SYS1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16162;AF=0.0014;AFR_AF=0;AMR_AF=0.0086;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs144298785 20:45371797 T ENSG00000204070 ENST00000457307 Transcript downstream_gene_variant - - - - - rs144298785 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=4373;STRAND=1;SYMBOL=SYS1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16162;AF=0.0014;AFR_AF=0;AMR_AF=0.0086;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs144298785 20:45371797 T ENSG00000254806 ENST00000458187 Transcript intron_variant,NMD_transcript_variant - - - - - rs144298785 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=SYS1-DBNDD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:33535;AF=0.0014;AFR_AF=0;AMR_AF=0.0086;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs144298785 20:45371797 T ENSG00000254806 ENST00000475242 Transcript intron_variant,non_coding_transcript_variant - - - - - rs144298785 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=SYS1-DBNDD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:33535;AF=0.0014;AFR_AF=0;AMR_AF=0.0086;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs144298785 20:45371797 T ENSG00000204070 ENST00000479779 Transcript downstream_gene_variant - - - - - rs144298785 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=4369;STRAND=1;SYMBOL=SYS1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16162;AF=0.0014;AFR_AF=0;AMR_AF=0.0086;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs144298785 20:45371797 T ENSG00000124251 ENST00000494455 Transcript downstream_gene_variant - - - - - rs144298785 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=3680;STRAND=-1;SYMBOL=TP53TG5;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:15856;AF=0.0014;AFR_AF=0;AMR_AF=0.0086;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs73907926 20:45372459 T ENSG00000204070 ENST00000243918 Transcript downstream_gene_variant - - - - - rs73907926 IND=P1;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=3250;STRAND=1;SYMBOL=SYS1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16162;AF=0.0303;AFR_AF=0.1089;AMR_AF=0.0115;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs73907926 20:45372459 T ENSG00000124251 ENST00000372726 Transcript downstream_gene_variant - - - - - rs73907926 IND=P1;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=98;STRAND=-1;SYMBOL=TP53TG5;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:15856;AF=0.0303;AFR_AF=0.1089;AMR_AF=0.0115;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs73907926 20:45372459 T ENSG00000254806 ENST00000419593 Transcript intron_variant,NMD_transcript_variant - - - - - rs73907926 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=SYS1-DBNDD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:33535;AF=0.0303;AFR_AF=0.1089;AMR_AF=0.0115;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs73907926 20:45372459 T ENSG00000204070 ENST00000426004 Transcript intron_variant - - - - - rs73907926 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=SYS1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16162;AF=0.0303;AFR_AF=0.1089;AMR_AF=0.0115;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs73907926 20:45372459 T ENSG00000254806 ENST00000452133 Transcript intron_variant,NMD_transcript_variant - - - - - rs73907926 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=SYS1-DBNDD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:33535;AF=0.0303;AFR_AF=0.1089;AMR_AF=0.0115;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs73907926 20:45372459 T ENSG00000254806 ENST00000458187 Transcript intron_variant,NMD_transcript_variant - - - - - rs73907926 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=SYS1-DBNDD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:33535;AF=0.0303;AFR_AF=0.1089;AMR_AF=0.0115;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs73907926 20:45372459 T ENSG00000254806 ENST00000475242 Transcript intron_variant,non_coding_transcript_variant - - - - - rs73907926 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=SYS1-DBNDD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:33535;AF=0.0303;AFR_AF=0.1089;AMR_AF=0.0115;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs73907926 20:45372459 T ENSG00000124251 ENST00000488588 Transcript downstream_gene_variant - - - - - rs73907926 IND=P1;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=4738;STRAND=-1;SYMBOL=TP53TG5;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:15856;AF=0.0303;AFR_AF=0.1089;AMR_AF=0.0115;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs73907926 20:45372459 T ENSG00000124251 ENST00000494455 Transcript downstream_gene_variant - - - - - rs73907926 IND=P1;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=3018;STRAND=-1;SYMBOL=TP53TG5;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:15856;AF=0.0303;AFR_AF=0.1089;AMR_AF=0.0115;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs570020108 20:45375158 A ENSG00000124251 ENST00000372726 Transcript stop_gained 738 649 217 R/* Cga/Tga rs570020108,COSV65578289 IND=P3;ZYG=HET;IMPACT=HIGH;STRAND=-1;SYMBOL=TP53TG5;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:15856;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0;gnomAD_AF=1.591e-05;gnomAD_AFR_AF=6.152e-05;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=5.437e-05;gnomAD_FIN_AF=0;gnomAD_NFE_AF=1.758e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs570020108 20:45375158 A ENSG00000254806 ENST00000419593 Transcript intron_variant,NMD_transcript_variant - - - - - rs570020108,COSV65578289 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=SYS1-DBNDD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:33535;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0;gnomAD_AF=1.591e-05;gnomAD_AFR_AF=6.152e-05;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=5.437e-05;gnomAD_FIN_AF=0;gnomAD_NFE_AF=1.758e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs570020108 20:45375158 A ENSG00000204070 ENST00000426004 Transcript 3_prime_UTR_variant 1275 - - - - rs570020108,COSV65578289 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=SYS1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16162;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0;gnomAD_AF=1.591e-05;gnomAD_AFR_AF=6.152e-05;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=5.437e-05;gnomAD_FIN_AF=0;gnomAD_NFE_AF=1.758e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs570020108 20:45375158 A ENSG00000254806 ENST00000452133 Transcript intron_variant,NMD_transcript_variant - - - - - rs570020108,COSV65578289 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=SYS1-DBNDD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:33535;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0;gnomAD_AF=1.591e-05;gnomAD_AFR_AF=6.152e-05;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=5.437e-05;gnomAD_FIN_AF=0;gnomAD_NFE_AF=1.758e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs570020108 20:45375158 A ENSG00000254806 ENST00000458187 Transcript intron_variant,NMD_transcript_variant - - - - - rs570020108,COSV65578289 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=SYS1-DBNDD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:33535;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0;gnomAD_AF=1.591e-05;gnomAD_AFR_AF=6.152e-05;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=5.437e-05;gnomAD_FIN_AF=0;gnomAD_NFE_AF=1.758e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs570020108 20:45375158 A ENSG00000254806 ENST00000475242 Transcript intron_variant,non_coding_transcript_variant - - - - - rs570020108,COSV65578289 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=SYS1-DBNDD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:33535;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0;gnomAD_AF=1.591e-05;gnomAD_AFR_AF=6.152e-05;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=5.437e-05;gnomAD_FIN_AF=0;gnomAD_NFE_AF=1.758e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs570020108 20:45375158 A ENSG00000124251 ENST00000488588 Transcript downstream_gene_variant - - - - - rs570020108,COSV65578289 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2039;STRAND=-1;SYMBOL=TP53TG5;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:15856;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0;gnomAD_AF=1.591e-05;gnomAD_AFR_AF=6.152e-05;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=5.437e-05;gnomAD_FIN_AF=0;gnomAD_NFE_AF=1.758e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs570020108 20:45375158 A ENSG00000124251 ENST00000494455 Transcript downstream_gene_variant - - - - - rs570020108,COSV65578289 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=319;STRAND=-1;SYMBOL=TP53TG5;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:15856;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0;gnomAD_AF=1.591e-05;gnomAD_AFR_AF=6.152e-05;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=5.437e-05;gnomAD_FIN_AF=0;gnomAD_NFE_AF=1.758e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs2231620 20:45375235 T ENSG00000124251 ENST00000372726 Transcript missense_variant 661 572 191 R/H cGc/cAc rs2231620 IND=P3;ZYG=HET;IMPACT=MODERATE;STRAND=-1;SYMBOL=TP53TG5;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:15856;SIFT=tolerated(1);PolyPhen=benign(0);AF=0.0032;AFR_AF=0.0121;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=0.0009186;gnomAD_AFR_AF=0.01323;gnomAD_AMR_AF=0.0002024;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=4.395e-05;gnomAD_OTH_AF=0.0004889;gnomAD_SAS_AF=3.266e-05 rs2231620 20:45375235 T ENSG00000254806 ENST00000419593 Transcript intron_variant,NMD_transcript_variant - - - - - rs2231620 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=SYS1-DBNDD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:33535;AF=0.0032;AFR_AF=0.0121;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=0.0009186;gnomAD_AFR_AF=0.01323;gnomAD_AMR_AF=0.0002024;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=4.395e-05;gnomAD_OTH_AF=0.0004889;gnomAD_SAS_AF=3.266e-05 rs2231620 20:45375235 T ENSG00000204070 ENST00000426004 Transcript 3_prime_UTR_variant 1352 - - - - rs2231620 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=SYS1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16162;AF=0.0032;AFR_AF=0.0121;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=0.0009186;gnomAD_AFR_AF=0.01323;gnomAD_AMR_AF=0.0002024;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=4.395e-05;gnomAD_OTH_AF=0.0004889;gnomAD_SAS_AF=3.266e-05 rs2231620 20:45375235 T ENSG00000254806 ENST00000452133 Transcript intron_variant,NMD_transcript_variant - - - - - rs2231620 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=SYS1-DBNDD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:33535;AF=0.0032;AFR_AF=0.0121;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=0.0009186;gnomAD_AFR_AF=0.01323;gnomAD_AMR_AF=0.0002024;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=4.395e-05;gnomAD_OTH_AF=0.0004889;gnomAD_SAS_AF=3.266e-05 rs2231620 20:45375235 T ENSG00000254806 ENST00000458187 Transcript intron_variant,NMD_transcript_variant - - - - - rs2231620 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=SYS1-DBNDD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:33535;AF=0.0032;AFR_AF=0.0121;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=0.0009186;gnomAD_AFR_AF=0.01323;gnomAD_AMR_AF=0.0002024;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=4.395e-05;gnomAD_OTH_AF=0.0004889;gnomAD_SAS_AF=3.266e-05 rs2231620 20:45375235 T ENSG00000254806 ENST00000475242 Transcript intron_variant,non_coding_transcript_variant - - - - - rs2231620 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=SYS1-DBNDD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:33535;AF=0.0032;AFR_AF=0.0121;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=0.0009186;gnomAD_AFR_AF=0.01323;gnomAD_AMR_AF=0.0002024;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=4.395e-05;gnomAD_OTH_AF=0.0004889;gnomAD_SAS_AF=3.266e-05 rs2231620 20:45375235 T ENSG00000124251 ENST00000488588 Transcript downstream_gene_variant - - - - - rs2231620 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1962;STRAND=-1;SYMBOL=TP53TG5;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:15856;AF=0.0032;AFR_AF=0.0121;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=0.0009186;gnomAD_AFR_AF=0.01323;gnomAD_AMR_AF=0.0002024;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=4.395e-05;gnomAD_OTH_AF=0.0004889;gnomAD_SAS_AF=3.266e-05 rs2231620 20:45375235 T ENSG00000124251 ENST00000494455 Transcript downstream_gene_variant - - - - - rs2231620 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=242;STRAND=-1;SYMBOL=TP53TG5;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:15856;AF=0.0032;AFR_AF=0.0121;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=0.0009186;gnomAD_AFR_AF=0.01323;gnomAD_AMR_AF=0.0002024;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=4.395e-05;gnomAD_OTH_AF=0.0004889;gnomAD_SAS_AF=3.266e-05 rs10546815 20:45375516-45375518 - ENSG00000124251 ENST00000372726 Transcript inframe_deletion 378-380 289-291 97 N/- AAT/- rs10546815 IND=P2;ZYG=HOM;IMPACT=MODERATE;STRAND=-1;SYMBOL=TP53TG5;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:15856;AFR_AF=0.1914;AMR_AF=0.4452;EAS_AF=0.255;EUR_AF=0.659;SAS_AF=0.4642;gnomAD_AF=0.5429;gnomAD_AFR_AF=0.229;gnomAD_AMR_AF=0.4475;gnomAD_ASJ_AF=0.6931;gnomAD_EAS_AF=0.2513;gnomAD_FIN_AF=0.6509;gnomAD_NFE_AF=0.6399;gnomAD_OTH_AF=0.5989;gnomAD_SAS_AF=0.4946 rs10546815 20:45375516-45375518 - ENSG00000254806 ENST00000419593 Transcript intron_variant,NMD_transcript_variant - - - - - rs10546815 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=SYS1-DBNDD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:33535;AFR_AF=0.1914;AMR_AF=0.4452;EAS_AF=0.255;EUR_AF=0.659;SAS_AF=0.4642;gnomAD_AF=0.5429;gnomAD_AFR_AF=0.229;gnomAD_AMR_AF=0.4475;gnomAD_ASJ_AF=0.6931;gnomAD_EAS_AF=0.2513;gnomAD_FIN_AF=0.6509;gnomAD_NFE_AF=0.6399;gnomAD_OTH_AF=0.5989;gnomAD_SAS_AF=0.4946 rs10546815 20:45375516-45375518 - ENSG00000204070 ENST00000426004 Transcript 3_prime_UTR_variant 1633-1635 - - - - rs10546815 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=SYS1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16162;AFR_AF=0.1914;AMR_AF=0.4452;EAS_AF=0.255;EUR_AF=0.659;SAS_AF=0.4642;gnomAD_AF=0.5429;gnomAD_AFR_AF=0.229;gnomAD_AMR_AF=0.4475;gnomAD_ASJ_AF=0.6931;gnomAD_EAS_AF=0.2513;gnomAD_FIN_AF=0.6509;gnomAD_NFE_AF=0.6399;gnomAD_OTH_AF=0.5989;gnomAD_SAS_AF=0.4946 rs10546815 20:45375516-45375518 - ENSG00000254806 ENST00000452133 Transcript intron_variant,NMD_transcript_variant - - - - - rs10546815 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=SYS1-DBNDD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:33535;AFR_AF=0.1914;AMR_AF=0.4452;EAS_AF=0.255;EUR_AF=0.659;SAS_AF=0.4642;gnomAD_AF=0.5429;gnomAD_AFR_AF=0.229;gnomAD_AMR_AF=0.4475;gnomAD_ASJ_AF=0.6931;gnomAD_EAS_AF=0.2513;gnomAD_FIN_AF=0.6509;gnomAD_NFE_AF=0.6399;gnomAD_OTH_AF=0.5989;gnomAD_SAS_AF=0.4946 rs10546815 20:45375516-45375518 - ENSG00000254806 ENST00000458187 Transcript intron_variant,NMD_transcript_variant - - - - - rs10546815 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=SYS1-DBNDD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:33535;AFR_AF=0.1914;AMR_AF=0.4452;EAS_AF=0.255;EUR_AF=0.659;SAS_AF=0.4642;gnomAD_AF=0.5429;gnomAD_AFR_AF=0.229;gnomAD_AMR_AF=0.4475;gnomAD_ASJ_AF=0.6931;gnomAD_EAS_AF=0.2513;gnomAD_FIN_AF=0.6509;gnomAD_NFE_AF=0.6399;gnomAD_OTH_AF=0.5989;gnomAD_SAS_AF=0.4946 rs10546815 20:45375516-45375518 - ENSG00000254806 ENST00000475242 Transcript intron_variant,non_coding_transcript_variant - - - - - rs10546815 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=SYS1-DBNDD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:33535;AFR_AF=0.1914;AMR_AF=0.4452;EAS_AF=0.255;EUR_AF=0.659;SAS_AF=0.4642;gnomAD_AF=0.5429;gnomAD_AFR_AF=0.229;gnomAD_AMR_AF=0.4475;gnomAD_ASJ_AF=0.6931;gnomAD_EAS_AF=0.2513;gnomAD_FIN_AF=0.6509;gnomAD_NFE_AF=0.6399;gnomAD_OTH_AF=0.5989;gnomAD_SAS_AF=0.4946 rs10546815 20:45375516-45375518 - ENSG00000124251 ENST00000488588 Transcript downstream_gene_variant - - - - - rs10546815 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=1679;STRAND=-1;SYMBOL=TP53TG5;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:15856;AFR_AF=0.1914;AMR_AF=0.4452;EAS_AF=0.255;EUR_AF=0.659;SAS_AF=0.4642;gnomAD_AF=0.5429;gnomAD_AFR_AF=0.229;gnomAD_AMR_AF=0.4475;gnomAD_ASJ_AF=0.6931;gnomAD_EAS_AF=0.2513;gnomAD_FIN_AF=0.6509;gnomAD_NFE_AF=0.6399;gnomAD_OTH_AF=0.5989;gnomAD_SAS_AF=0.4946 rs10546815 20:45375516-45375518 - ENSG00000124251 ENST00000494455 Transcript non_coding_transcript_exon_variant 541-543 - - - - rs10546815 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=TP53TG5;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:15856;AFR_AF=0.1914;AMR_AF=0.4452;EAS_AF=0.255;EUR_AF=0.659;SAS_AF=0.4642;gnomAD_AF=0.5429;gnomAD_AFR_AF=0.229;gnomAD_AMR_AF=0.4475;gnomAD_ASJ_AF=0.6931;gnomAD_EAS_AF=0.2513;gnomAD_FIN_AF=0.6509;gnomAD_NFE_AF=0.6399;gnomAD_OTH_AF=0.5989;gnomAD_SAS_AF=0.4946 rs556237689 20:45380580 G ENSG00000124251 ENST00000372726 Transcript upstream_gene_variant - - - - - rs556237689 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2255;STRAND=-1;SYMBOL=TP53TG5;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:15856;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001 rs556237689 20:45380580 G ENSG00000254806 ENST00000419593 Transcript intron_variant,NMD_transcript_variant - - - - - rs556237689 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=SYS1-DBNDD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:33535;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001 rs556237689 20:45380580 G ENSG00000204070 ENST00000426004 Transcript downstream_gene_variant - - - - - rs556237689 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=3782;STRAND=1;SYMBOL=SYS1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16162;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001 rs556237689 20:45380580 G ENSG00000254806 ENST00000452133 Transcript intron_variant,NMD_transcript_variant - - - - - rs556237689 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=SYS1-DBNDD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:33535;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001 rs556237689 20:45380580 G ENSG00000254806 ENST00000458187 Transcript intron_variant,NMD_transcript_variant - - - - - rs556237689 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=SYS1-DBNDD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:33535;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001 rs556237689 20:45380580 G ENSG00000254806 ENST00000475242 Transcript intron_variant,non_coding_transcript_variant - - - - - rs556237689 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=SYS1-DBNDD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:33535;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001 rs556237689 20:45380580 G ENSG00000124251 ENST00000488588 Transcript intron_variant,non_coding_transcript_variant - - - - - rs556237689 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=TP53TG5;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:15856;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001 rs556237689 20:45380580 G ENSG00000124251 ENST00000494455 Transcript intron_variant,non_coding_transcript_variant - - - - - rs556237689 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=TP53TG5;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:15856;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001 rs79526496 20:45397695 C ENSG00000254806 ENST00000419593 Transcript intron_variant,NMD_transcript_variant - - - - - rs79526496 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=SYS1-DBNDD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:33535;AF=0.0162;AFR_AF=0.059;AMR_AF=0.0043;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs79526496 20:45397695 C ENSG00000254806 ENST00000452133 Transcript intron_variant,NMD_transcript_variant - - - - - rs79526496 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=SYS1-DBNDD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:33535;AF=0.0162;AFR_AF=0.059;AMR_AF=0.0043;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs79526496 20:45397695 C ENSG00000254806 ENST00000458187 Transcript intron_variant,NMD_transcript_variant - - - - - rs79526496 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=SYS1-DBNDD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:33535;AF=0.0162;AFR_AF=0.059;AMR_AF=0.0043;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs79526496 20:45397695 C ENSG00000254806 ENST00000475242 Transcript intron_variant,non_coding_transcript_variant - - - - - rs79526496 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=SYS1-DBNDD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:33535;AF=0.0162;AFR_AF=0.059;AMR_AF=0.0043;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs79526496 20:45397695 C ENSG00000124251 ENST00000488588 Transcript intron_variant,non_coding_transcript_variant - - - - - rs79526496 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=TP53TG5;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:15856;AF=0.0162;AFR_AF=0.059;AMR_AF=0.0043;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs79526496 20:45397695 C ENSG00000124251 ENST00000494455 Transcript intron_variant,non_coding_transcript_variant - - - - - rs79526496 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=TP53TG5;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:15856;AF=0.0162;AFR_AF=0.059;AMR_AF=0.0043;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs565731166 20:45398788 G ENSG00000254806 ENST00000419593 Transcript intron_variant,NMD_transcript_variant - - - - - rs565731166 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=SYS1-DBNDD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:33535;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs565731166 20:45398788 G ENSG00000254806 ENST00000452133 Transcript intron_variant,NMD_transcript_variant - - - - - rs565731166 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=SYS1-DBNDD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:33535;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs565731166 20:45398788 G ENSG00000254806 ENST00000458187 Transcript intron_variant,NMD_transcript_variant - - - - - rs565731166 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=SYS1-DBNDD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:33535;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs565731166 20:45398788 G ENSG00000254806 ENST00000475242 Transcript intron_variant,non_coding_transcript_variant - - - - - rs565731166 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=SYS1-DBNDD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:33535;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs565731166 20:45398788 G ENSG00000124251 ENST00000488588 Transcript intron_variant,non_coding_transcript_variant - - - - - rs565731166 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=TP53TG5;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:15856;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs565731166 20:45398788 G ENSG00000124251 ENST00000494455 Transcript intron_variant,non_coding_transcript_variant - - - - - rs565731166 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=TP53TG5;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:15856;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs75041987 20:45401337 A ENSG00000244274 ENST00000357275 Transcript upstream_gene_variant - - - - - rs75041987 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=4847;STRAND=1;SYMBOL=DBNDD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:15881;AF=0.0303;AFR_AF=0.1089;AMR_AF=0.0115;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs75041987 20:45401337 A ENSG00000244274 ENST00000372720 Transcript upstream_gene_variant - - - - - rs75041987 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=4884;STRAND=1;SYMBOL=DBNDD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:15881;AF=0.0303;AFR_AF=0.1089;AMR_AF=0.0115;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs75041987 20:45401337 A ENSG00000244274 ENST00000372722 Transcript upstream_gene_variant - - - - - rs75041987 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=4734;STRAND=1;SYMBOL=DBNDD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:15881;AF=0.0303;AFR_AF=0.1089;AMR_AF=0.0115;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs75041987 20:45401337 A ENSG00000244274 ENST00000372723 Transcript upstream_gene_variant - - - - - rs75041987 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=4720;STRAND=1;SYMBOL=DBNDD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:15881;AF=0.0303;AFR_AF=0.1089;AMR_AF=0.0115;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs75041987 20:45401337 A ENSG00000254806 ENST00000419593 Transcript intron_variant,NMD_transcript_variant - - - - - rs75041987 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=SYS1-DBNDD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:33535;AF=0.0303;AFR_AF=0.1089;AMR_AF=0.0115;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs75041987 20:45401337 A ENSG00000254806 ENST00000452133 Transcript intron_variant,NMD_transcript_variant - - - - - rs75041987 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=SYS1-DBNDD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:33535;AF=0.0303;AFR_AF=0.1089;AMR_AF=0.0115;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs75041987 20:45401337 A ENSG00000254806 ENST00000458187 Transcript intron_variant,NMD_transcript_variant - - - - - rs75041987 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=SYS1-DBNDD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:33535;AF=0.0303;AFR_AF=0.1089;AMR_AF=0.0115;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs75041987 20:45401337 A ENSG00000124251 ENST00000468375 Transcript downstream_gene_variant - - - - - rs75041987 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2739;STRAND=-1;SYMBOL=TP53TG5;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:15856;AF=0.0303;AFR_AF=0.1089;AMR_AF=0.0115;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs75041987 20:45401337 A ENSG00000254806 ENST00000475242 Transcript intron_variant,non_coding_transcript_variant - - - - - rs75041987 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=SYS1-DBNDD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:33535;AF=0.0303;AFR_AF=0.1089;AMR_AF=0.0115;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs75041987 20:45401337 A ENSG00000124251 ENST00000488588 Transcript intron_variant,non_coding_transcript_variant - - - - - rs75041987 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=TP53TG5;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:15856;AF=0.0303;AFR_AF=0.1089;AMR_AF=0.0115;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs75041987 20:45401337 A ENSG00000124251 ENST00000494455 Transcript intron_variant,non_coding_transcript_variant - - - - - rs75041987 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=TP53TG5;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:15856;AF=0.0303;AFR_AF=0.1089;AMR_AF=0.0115;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs532274504 20:45402101-45402104 - ENSG00000244274 ENST00000357275 Transcript upstream_gene_variant - - - - - rs532274504 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=4080;STRAND=1;SYMBOL=DBNDD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:15881;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0.003;SAS_AF=0 rs532274504 20:45402101-45402104 - ENSG00000244274 ENST00000360981 Transcript upstream_gene_variant - - - - - rs532274504 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=4515;STRAND=1;SYMBOL=DBNDD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:15881;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0.003;SAS_AF=0 rs532274504 20:45402101-45402104 - ENSG00000244274 ENST00000372717 Transcript upstream_gene_variant - - - - - rs532274504 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=4484;STRAND=1;SYMBOL=DBNDD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:15881;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0.003;SAS_AF=0 rs532274504 20:45402101-45402104 - ENSG00000244274 ENST00000372720 Transcript upstream_gene_variant - - - - - rs532274504 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=4117;STRAND=1;SYMBOL=DBNDD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:15881;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0.003;SAS_AF=0 rs532274504 20:45402101-45402104 - ENSG00000244274 ENST00000372722 Transcript upstream_gene_variant - - - - - rs532274504 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=3967;STRAND=1;SYMBOL=DBNDD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:15881;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0.003;SAS_AF=0 rs532274504 20:45402101-45402104 - ENSG00000244274 ENST00000372723 Transcript upstream_gene_variant - - - - - rs532274504 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=3953;STRAND=1;SYMBOL=DBNDD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:15881;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0.003;SAS_AF=0 rs532274504 20:45402101-45402104 - ENSG00000254806 ENST00000419593 Transcript intron_variant,NMD_transcript_variant - - - - - rs532274504 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=SYS1-DBNDD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:33535;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0.003;SAS_AF=0 rs532274504 20:45402101-45402104 - ENSG00000254806 ENST00000452133 Transcript intron_variant,NMD_transcript_variant - - - - - rs532274504 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=SYS1-DBNDD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:33535;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0.003;SAS_AF=0 rs532274504 20:45402101-45402104 - ENSG00000254806 ENST00000458187 Transcript intron_variant,NMD_transcript_variant - - - - - rs532274504 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=SYS1-DBNDD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:33535;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0.003;SAS_AF=0 rs532274504 20:45402101-45402104 - ENSG00000124251 ENST00000468375 Transcript downstream_gene_variant - - - - - rs532274504 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1972;STRAND=-1;SYMBOL=TP53TG5;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:15856;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0.003;SAS_AF=0 rs532274504 20:45402101-45402104 - ENSG00000254806 ENST00000475242 Transcript intron_variant,non_coding_transcript_variant - - - - - rs532274504 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=SYS1-DBNDD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:33535;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0.003;SAS_AF=0 rs532274504 20:45402101-45402104 - ENSG00000124251 ENST00000488588 Transcript intron_variant,non_coding_transcript_variant - - - - - rs532274504 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=TP53TG5;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:15856;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0.003;SAS_AF=0 rs532274504 20:45402101-45402104 - ENSG00000124251 ENST00000494455 Transcript intron_variant,non_coding_transcript_variant - - - - - rs532274504 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=TP53TG5;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:15856;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0.003;SAS_AF=0 rs577717281 20:45406683 C ENSG00000244274 ENST00000357275 Transcript intron_variant - - - - - rs577717281 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=DBNDD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:15881;AF=0.0010;AFR_AF=0.003;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs577717281 20:45406683 C ENSG00000244274 ENST00000360981 Transcript 5_prime_UTR_variant 65 - - - - rs577717281 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=DBNDD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:15881;AF=0.0010;AFR_AF=0.003;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs577717281 20:45406683 C ENSG00000244274 ENST00000372710 Transcript upstream_gene_variant - - - - - rs577717281 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=1606;STRAND=1;SYMBOL=DBNDD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:15881;AF=0.0010;AFR_AF=0.003;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs577717281 20:45406683 C ENSG00000244274 ENST00000372712 Transcript upstream_gene_variant - - - - - rs577717281 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=524;STRAND=1;SYMBOL=DBNDD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:15881;AF=0.0010;AFR_AF=0.003;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs577717281 20:45406683 C ENSG00000244274 ENST00000372717 Transcript 5_prime_UTR_variant 96 - - - - rs577717281 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=DBNDD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:15881;AF=0.0010;AFR_AF=0.003;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs577717281 20:45406683 C ENSG00000244274 ENST00000372720 Transcript intron_variant - - - - - rs577717281 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=DBNDD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:15881;AF=0.0010;AFR_AF=0.003;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs577717281 20:45406683 C ENSG00000244274 ENST00000372722 Transcript intron_variant - - - - - rs577717281 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=DBNDD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:15881;AF=0.0010;AFR_AF=0.003;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs577717281 20:45406683 C ENSG00000244274 ENST00000372723 Transcript intron_variant - - - - - rs577717281 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=DBNDD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:15881;AF=0.0010;AFR_AF=0.003;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs577717281 20:45406683 C ENSG00000254806 ENST00000419593 Transcript intron_variant,NMD_transcript_variant - - - - - rs577717281 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=SYS1-DBNDD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:33535;AF=0.0010;AFR_AF=0.003;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs577717281 20:45406683 C ENSG00000244274 ENST00000443296 Transcript upstream_gene_variant - - - - - rs577717281 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=1606;STRAND=1;FLAGS=cds_start_NF;SYMBOL=DBNDD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:15881;AF=0.0010;AFR_AF=0.003;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs577717281 20:45406683 C ENSG00000254806 ENST00000452133 Transcript intron_variant,NMD_transcript_variant - - - - - rs577717281 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=SYS1-DBNDD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:33535;AF=0.0010;AFR_AF=0.003;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs577717281 20:45406683 C ENSG00000254806 ENST00000458187 Transcript intron_variant,NMD_transcript_variant - - - - - rs577717281 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=SYS1-DBNDD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:33535;AF=0.0010;AFR_AF=0.003;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs577717281 20:45406683 C ENSG00000124251 ENST00000468375 Transcript intron_variant,non_coding_transcript_variant - - - - - rs577717281 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=TP53TG5;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:15856;AF=0.0010;AFR_AF=0.003;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs577717281 20:45406683 C ENSG00000254806 ENST00000475242 Transcript intron_variant,non_coding_transcript_variant - - - - - rs577717281 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=SYS1-DBNDD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:33535;AF=0.0010;AFR_AF=0.003;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs577717281 20:45406683 C ENSG00000124251 ENST00000488588 Transcript upstream_gene_variant - - - - - rs577717281 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=689;STRAND=-1;SYMBOL=TP53TG5;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:15856;AF=0.0010;AFR_AF=0.003;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs577717281 20:45406683 C ENSG00000124251 ENST00000494455 Transcript intron_variant,non_coding_transcript_variant - - - - - rs577717281 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=TP53TG5;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:15856;AF=0.0010;AFR_AF=0.003;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs543281357 20:45406791 C ENSG00000244274 ENST00000357275 Transcript intron_variant - - - - - rs543281357 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=DBNDD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:15881;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs543281357 20:45406791 C ENSG00000244274 ENST00000360981 Transcript intron_variant - - - - - rs543281357 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=DBNDD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:15881;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs543281357 20:45406791 C ENSG00000244274 ENST00000372710 Transcript upstream_gene_variant - - - - - rs543281357 IND=P1;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=1498;STRAND=1;SYMBOL=DBNDD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:15881;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs543281357 20:45406791 C ENSG00000244274 ENST00000372712 Transcript upstream_gene_variant - - - - - rs543281357 IND=P1;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=416;STRAND=1;SYMBOL=DBNDD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:15881;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs543281357 20:45406791 C ENSG00000244274 ENST00000372717 Transcript intron_variant - - - - - rs543281357 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=DBNDD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:15881;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs543281357 20:45406791 C ENSG00000244274 ENST00000372720 Transcript intron_variant - - - - - rs543281357 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=DBNDD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:15881;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs543281357 20:45406791 C ENSG00000244274 ENST00000372722 Transcript intron_variant - - - - - rs543281357 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=DBNDD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:15881;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs543281357 20:45406791 C ENSG00000244274 ENST00000372723 Transcript intron_variant - - - - - rs543281357 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=DBNDD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:15881;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs543281357 20:45406791 C ENSG00000254806 ENST00000419593 Transcript intron_variant,NMD_transcript_variant - - - - - rs543281357 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=SYS1-DBNDD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:33535;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs543281357 20:45406791 C ENSG00000244274 ENST00000443296 Transcript upstream_gene_variant - - - - - rs543281357 IND=P1;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=1498;STRAND=1;FLAGS=cds_start_NF;SYMBOL=DBNDD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:15881;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs543281357 20:45406791 C ENSG00000254806 ENST00000452133 Transcript intron_variant,NMD_transcript_variant - - - - - rs543281357 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=SYS1-DBNDD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:33535;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs543281357 20:45406791 C ENSG00000254806 ENST00000458187 Transcript intron_variant,NMD_transcript_variant - - - - - rs543281357 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=SYS1-DBNDD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:33535;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs543281357 20:45406791 C ENSG00000124251 ENST00000468375 Transcript intron_variant,non_coding_transcript_variant - - - - - rs543281357 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=TP53TG5;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:15856;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs543281357 20:45406791 C ENSG00000254806 ENST00000475242 Transcript intron_variant,non_coding_transcript_variant - - - - - rs543281357 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=SYS1-DBNDD2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:33535;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs543281357 20:45406791 C ENSG00000124251 ENST00000488588 Transcript upstream_gene_variant - - - - - rs543281357 IND=P1;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=797;STRAND=-1;SYMBOL=TP53TG5;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:15856;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs543281357 20:45406791 C ENSG00000124251 ENST00000494455 Transcript intron_variant,non_coding_transcript_variant - - - - - rs543281357 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=TP53TG5;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:15856;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs181141327 20:46348401 T ENSG00000080189 ENST00000243896 Transcript downstream_gene_variant - - - - - rs181141327 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=1127;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0018;AFR_AF=0.0068;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs181141327 20:46348401 T ENSG00000080189 ENST00000317734 Transcript downstream_gene_variant - - - - - rs181141327 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=1129;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0018;AFR_AF=0.0068;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs181141327 20:46348401 T ENSG00000080189 ENST00000372227 Transcript downstream_gene_variant - - - - - rs181141327 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=1127;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0018;AFR_AF=0.0068;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs181141327 20:46348401 T ENSG00000080189 ENST00000372230 Transcript 3_prime_UTR_variant 3403 - - - - rs181141327 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0018;AFR_AF=0.0068;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs181141327 20:46348401 T ENSG00000080189 ENST00000420518 Transcript downstream_gene_variant - - - - - rs181141327 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=3763;STRAND=-1;FLAGS=cds_end_NF;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0018;AFR_AF=0.0068;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs181141327 20:46348401 T ENSG00000080189 ENST00000480329 Transcript downstream_gene_variant - - - - - rs181141327 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=1954;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0018;AFR_AF=0.0068;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs181141327 20:46348401 T ENSG00000080189 ENST00000481809 Transcript downstream_gene_variant - - - - - rs181141327 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=3749;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0018;AFR_AF=0.0068;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs181141327 20:46348401 T ENSG00000080189 ENST00000484318 Transcript downstream_gene_variant - - - - - rs181141327 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=3722;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0018;AFR_AF=0.0068;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs181141327 20:46348401 T ENSG00000080189 ENST00000487729 Transcript downstream_gene_variant - - - - - rs181141327 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=2370;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0018;AFR_AF=0.0068;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs181141327 20:46348401 T ENSG00000080189 ENST00000493599 Transcript downstream_gene_variant - - - - - rs181141327 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=1127;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0018;AFR_AF=0.0068;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs181141327 20:46348401 T ENSG00000080189 ENST00000543605 Transcript 3_prime_UTR_variant 3319 - - - - rs181141327 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0018;AFR_AF=0.0068;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs537704603 20:46349257 G ENSG00000080189 ENST00000243896 Transcript downstream_gene_variant - - - - - rs537704603 IND=P1;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=271;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs537704603 20:46349257 G ENSG00000080189 ENST00000317734 Transcript downstream_gene_variant - - - - - rs537704603 IND=P1;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=273;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs537704603 20:46349257 G ENSG00000080189 ENST00000372227 Transcript downstream_gene_variant - - - - - rs537704603 IND=P1;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=271;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs537704603 20:46349257 G ENSG00000080189 ENST00000372230 Transcript 3_prime_UTR_variant 2547 - - - - rs537704603 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs537704603 20:46349257 G ENSG00000080189 ENST00000420518 Transcript downstream_gene_variant - - - - - rs537704603 IND=P1;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=2907;STRAND=-1;FLAGS=cds_end_NF;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs537704603 20:46349257 G ENSG00000080189 ENST00000480329 Transcript downstream_gene_variant - - - - - rs537704603 IND=P1;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=1098;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs537704603 20:46349257 G ENSG00000080189 ENST00000481809 Transcript downstream_gene_variant - - - - - rs537704603 IND=P1;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=2893;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs537704603 20:46349257 G ENSG00000080189 ENST00000484318 Transcript downstream_gene_variant - - - - - rs537704603 IND=P1;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=2866;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs537704603 20:46349257 G ENSG00000080189 ENST00000487729 Transcript downstream_gene_variant - - - - - rs537704603 IND=P1;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=1514;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs537704603 20:46349257 G ENSG00000080189 ENST00000493599 Transcript downstream_gene_variant - - - - - rs537704603 IND=P1;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=271;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs537704603 20:46349257 G ENSG00000080189 ENST00000543605 Transcript 3_prime_UTR_variant 2463 - - - - rs537704603 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs549108249 20:46350461 T ENSG00000080189 ENST00000243896 Transcript missense_variant 1514 1031 344 R/Q cGg/cAg rs549108249,COSV54756437,COSV54758660 IND=P2;ZYG=HET;IMPACT=MODERATE;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;SIFT=tolerated(0.33);PolyPhen=benign(0);AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001;gnomAD_AF=5.184e-05;gnomAD_AFR_AF=6.18e-05;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0.0001088;gnomAD_FIN_AF=4.621e-05;gnomAD_NFE_AF=1.764e-05;gnomAD_OTH_AF=0.0001637;gnomAD_SAS_AF=0.0001965;SOMATIC=0,1,1;PHENO=0,1,1 rs549108249 20:46350461 T ENSG00000080189 ENST00000317734 Transcript missense_variant 1244 1118 373 R/Q cGg/cAg rs549108249,COSV54756437,COSV54758660 IND=P2;ZYG=HET;IMPACT=MODERATE;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;SIFT=tolerated(0.34);PolyPhen=benign(0.003);AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001;gnomAD_AF=5.184e-05;gnomAD_AFR_AF=6.18e-05;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0.0001088;gnomAD_FIN_AF=4.621e-05;gnomAD_NFE_AF=1.764e-05;gnomAD_OTH_AF=0.0001637;gnomAD_SAS_AF=0.0001965;SOMATIC=0,1,1;PHENO=0,1,1 rs549108249 20:46350461 T ENSG00000080189 ENST00000372227 Transcript missense_variant 1572 1031 344 R/Q cGg/cAg rs549108249,COSV54756437,COSV54758660 IND=P2;ZYG=HET;IMPACT=MODERATE;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;SIFT=tolerated(0.33);PolyPhen=benign(0);AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001;gnomAD_AF=5.184e-05;gnomAD_AFR_AF=6.18e-05;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0.0001088;gnomAD_FIN_AF=4.621e-05;gnomAD_NFE_AF=1.764e-05;gnomAD_OTH_AF=0.0001637;gnomAD_SAS_AF=0.0001965;SOMATIC=0,1,1;PHENO=0,1,1 rs549108249 20:46350461 T ENSG00000080189 ENST00000372230 Transcript missense_variant 1343 1031 344 R/Q cGg/cAg rs549108249,COSV54756437,COSV54758660 IND=P2;ZYG=HET;IMPACT=MODERATE;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;SIFT=tolerated(0.33);PolyPhen=benign(0);AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001;gnomAD_AF=5.184e-05;gnomAD_AFR_AF=6.18e-05;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0.0001088;gnomAD_FIN_AF=4.621e-05;gnomAD_NFE_AF=1.764e-05;gnomAD_OTH_AF=0.0001637;gnomAD_SAS_AF=0.0001965;SOMATIC=0,1,1;PHENO=0,1,1 rs549108249 20:46350461 T ENSG00000080189 ENST00000420518 Transcript downstream_gene_variant - - - - - rs549108249,COSV54756437,COSV54758660 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1703;STRAND=-1;FLAGS=cds_end_NF;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001;gnomAD_AF=5.184e-05;gnomAD_AFR_AF=6.18e-05;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0.0001088;gnomAD_FIN_AF=4.621e-05;gnomAD_NFE_AF=1.764e-05;gnomAD_OTH_AF=0.0001637;gnomAD_SAS_AF=0.0001965;SOMATIC=0,1,1;PHENO=0,1,1 rs549108249 20:46350461 T ENSG00000080189 ENST00000424568 Transcript downstream_gene_variant - - - - - rs549108249,COSV54756437,COSV54758660 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=4643;STRAND=-1;FLAGS=cds_end_NF;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001;gnomAD_AF=5.184e-05;gnomAD_AFR_AF=6.18e-05;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0.0001088;gnomAD_FIN_AF=4.621e-05;gnomAD_NFE_AF=1.764e-05;gnomAD_OTH_AF=0.0001637;gnomAD_SAS_AF=0.0001965;SOMATIC=0,1,1;PHENO=0,1,1 rs549108249 20:46350461 T ENSG00000080189 ENST00000480329 Transcript non_coding_transcript_exon_variant 813 - - - - rs549108249,COSV54756437,COSV54758660 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001;gnomAD_AF=5.184e-05;gnomAD_AFR_AF=6.18e-05;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0.0001088;gnomAD_FIN_AF=4.621e-05;gnomAD_NFE_AF=1.764e-05;gnomAD_OTH_AF=0.0001637;gnomAD_SAS_AF=0.0001965;SOMATIC=0,1,1;PHENO=0,1,1 rs549108249 20:46350461 T ENSG00000080189 ENST00000481809 Transcript downstream_gene_variant - - - - - rs549108249,COSV54756437,COSV54758660 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1689;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001;gnomAD_AF=5.184e-05;gnomAD_AFR_AF=6.18e-05;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0.0001088;gnomAD_FIN_AF=4.621e-05;gnomAD_NFE_AF=1.764e-05;gnomAD_OTH_AF=0.0001637;gnomAD_SAS_AF=0.0001965;SOMATIC=0,1,1;PHENO=0,1,1 rs549108249 20:46350461 T ENSG00000080189 ENST00000484318 Transcript downstream_gene_variant - - - - - rs549108249,COSV54756437,COSV54758660 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1662;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001;gnomAD_AF=5.184e-05;gnomAD_AFR_AF=6.18e-05;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0.0001088;gnomAD_FIN_AF=4.621e-05;gnomAD_NFE_AF=1.764e-05;gnomAD_OTH_AF=0.0001637;gnomAD_SAS_AF=0.0001965;SOMATIC=0,1,1;PHENO=0,1,1 rs549108249 20:46350461 T ENSG00000080189 ENST00000487729 Transcript downstream_gene_variant - - - - - rs549108249,COSV54756437,COSV54758660 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=310;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001;gnomAD_AF=5.184e-05;gnomAD_AFR_AF=6.18e-05;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0.0001088;gnomAD_FIN_AF=4.621e-05;gnomAD_NFE_AF=1.764e-05;gnomAD_OTH_AF=0.0001637;gnomAD_SAS_AF=0.0001965;SOMATIC=0,1,1;PHENO=0,1,1 rs549108249 20:46350461 T ENSG00000080189 ENST00000493599 Transcript non_coding_transcript_exon_variant 1577 - - - - rs549108249,COSV54756437,COSV54758660 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001;gnomAD_AF=5.184e-05;gnomAD_AFR_AF=6.18e-05;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0.0001088;gnomAD_FIN_AF=4.621e-05;gnomAD_NFE_AF=1.764e-05;gnomAD_OTH_AF=0.0001637;gnomAD_SAS_AF=0.0001965;SOMATIC=0,1,1;PHENO=0,1,1 rs549108249 20:46350461 T ENSG00000080189 ENST00000543605 Transcript missense_variant 1259 968 323 R/Q cGg/cAg rs549108249,COSV54756437,COSV54758660 IND=P2;ZYG=HET;IMPACT=MODERATE;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;SIFT=tolerated(0.23);PolyPhen=benign(0);AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001;gnomAD_AF=5.184e-05;gnomAD_AFR_AF=6.18e-05;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0.0001088;gnomAD_FIN_AF=4.621e-05;gnomAD_NFE_AF=1.764e-05;gnomAD_OTH_AF=0.0001637;gnomAD_SAS_AF=0.0001965;SOMATIC=0,1,1;PHENO=0,1,1 rs530902759 20:46350989 T ENSG00000080189 ENST00000243896 Transcript intron_variant - - - - - rs530902759 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs530902759 20:46350989 T ENSG00000080189 ENST00000317734 Transcript intron_variant - - - - - rs530902759 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs530902759 20:46350989 T ENSG00000080189 ENST00000372227 Transcript intron_variant - - - - - rs530902759 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs530902759 20:46350989 T ENSG00000080189 ENST00000372230 Transcript intron_variant - - - - - rs530902759 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs530902759 20:46350989 T ENSG00000080189 ENST00000420518 Transcript downstream_gene_variant - - - - - rs530902759 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1175;STRAND=-1;FLAGS=cds_end_NF;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs530902759 20:46350989 T ENSG00000080189 ENST00000424568 Transcript downstream_gene_variant - - - - - rs530902759 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=4115;STRAND=-1;FLAGS=cds_end_NF;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs530902759 20:46350989 T ENSG00000080189 ENST00000480329 Transcript intron_variant,non_coding_transcript_variant - - - - - rs530902759 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs530902759 20:46350989 T ENSG00000080189 ENST00000481809 Transcript downstream_gene_variant - - - - - rs530902759 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1161;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs530902759 20:46350989 T ENSG00000080189 ENST00000484318 Transcript downstream_gene_variant - - - - - rs530902759 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1134;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs530902759 20:46350989 T ENSG00000080189 ENST00000487729 Transcript intron_variant,non_coding_transcript_variant - - - - - rs530902759 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs530902759 20:46350989 T ENSG00000080189 ENST00000493599 Transcript intron_variant,non_coding_transcript_variant - - - - - rs530902759 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs530902759 20:46350989 T ENSG00000080189 ENST00000543605 Transcript intron_variant - - - - - rs530902759 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs576849230 20:46352436 A ENSG00000080189 ENST00000243896 Transcript intron_variant - - - - - rs576849230 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0008;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.0041 rs576849230 20:46352436 A ENSG00000080189 ENST00000317734 Transcript intron_variant - - - - - rs576849230 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0008;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.0041 rs576849230 20:46352436 A ENSG00000080189 ENST00000372227 Transcript intron_variant - - - - - rs576849230 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0008;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.0041 rs576849230 20:46352436 A ENSG00000080189 ENST00000372230 Transcript intron_variant - - - - - rs576849230 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0008;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.0041 rs576849230 20:46352436 A ENSG00000080189 ENST00000420518 Transcript intron_variant - - - - - rs576849230 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;FLAGS=cds_end_NF;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0008;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.0041 rs576849230 20:46352436 A ENSG00000080189 ENST00000424568 Transcript downstream_gene_variant - - - - - rs576849230 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2668;STRAND=-1;FLAGS=cds_end_NF;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0008;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.0041 rs576849230 20:46352436 A ENSG00000080189 ENST00000480329 Transcript intron_variant,non_coding_transcript_variant - - - - - rs576849230 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0008;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.0041 rs576849230 20:46352436 A ENSG00000080189 ENST00000481809 Transcript intron_variant,non_coding_transcript_variant - - - - - rs576849230 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0008;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.0041 rs576849230 20:46352436 A ENSG00000080189 ENST00000484318 Transcript intron_variant,non_coding_transcript_variant - - - - - rs576849230 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0008;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.0041 rs576849230 20:46352436 A ENSG00000080189 ENST00000487729 Transcript intron_variant,non_coding_transcript_variant - - - - - rs576849230 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0008;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.0041 rs576849230 20:46352436 A ENSG00000080189 ENST00000493599 Transcript non_coding_transcript_exon_variant 762 - - - - rs576849230 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0008;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.0041 rs576849230 20:46352436 A ENSG00000080189 ENST00000543605 Transcript intron_variant - - - - - rs576849230 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0008;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.0041 rs190960172 20:46352642 T ENSG00000080189 ENST00000243896 Transcript intron_variant - - - - - rs190960172 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0110;AFR_AF=0.0393;AMR_AF=0.0043;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs190960172 20:46352642 T ENSG00000080189 ENST00000317734 Transcript intron_variant - - - - - rs190960172 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0110;AFR_AF=0.0393;AMR_AF=0.0043;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs190960172 20:46352642 T ENSG00000080189 ENST00000372227 Transcript intron_variant - - - - - rs190960172 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0110;AFR_AF=0.0393;AMR_AF=0.0043;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs190960172 20:46352642 T ENSG00000080189 ENST00000372230 Transcript intron_variant - - - - - rs190960172 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0110;AFR_AF=0.0393;AMR_AF=0.0043;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs190960172 20:46352642 T ENSG00000080189 ENST00000420518 Transcript intron_variant - - - - - rs190960172 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;FLAGS=cds_end_NF;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0110;AFR_AF=0.0393;AMR_AF=0.0043;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs190960172 20:46352642 T ENSG00000080189 ENST00000424568 Transcript downstream_gene_variant - - - - - rs190960172 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2462;STRAND=-1;FLAGS=cds_end_NF;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0110;AFR_AF=0.0393;AMR_AF=0.0043;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs190960172 20:46352642 T ENSG00000080189 ENST00000480329 Transcript intron_variant,non_coding_transcript_variant - - - - - rs190960172 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0110;AFR_AF=0.0393;AMR_AF=0.0043;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs190960172 20:46352642 T ENSG00000080189 ENST00000481809 Transcript intron_variant,non_coding_transcript_variant - - - - - rs190960172 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0110;AFR_AF=0.0393;AMR_AF=0.0043;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs190960172 20:46352642 T ENSG00000080189 ENST00000484318 Transcript intron_variant,non_coding_transcript_variant - - - - - rs190960172 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0110;AFR_AF=0.0393;AMR_AF=0.0043;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs190960172 20:46352642 T ENSG00000080189 ENST00000487729 Transcript intron_variant,non_coding_transcript_variant - - - - - rs190960172 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0110;AFR_AF=0.0393;AMR_AF=0.0043;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs190960172 20:46352642 T ENSG00000080189 ENST00000493599 Transcript non_coding_transcript_exon_variant 556 - - - - rs190960172 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0110;AFR_AF=0.0393;AMR_AF=0.0043;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs190960172 20:46352642 T ENSG00000080189 ENST00000543605 Transcript intron_variant - - - - - rs190960172 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0110;AFR_AF=0.0393;AMR_AF=0.0043;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs563462073 20:46356891 T ENSG00000080189 ENST00000243896 Transcript intron_variant - - - - - rs563462073 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0004;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.002;SAS_AF=0 rs563462073 20:46356891 T ENSG00000080189 ENST00000317734 Transcript intron_variant - - - - - rs563462073 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0004;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.002;SAS_AF=0 rs563462073 20:46356891 T ENSG00000080189 ENST00000372227 Transcript intron_variant - - - - - rs563462073 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0004;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.002;SAS_AF=0 rs563462073 20:46356891 T ENSG00000080189 ENST00000372230 Transcript intron_variant - - - - - rs563462073 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0004;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.002;SAS_AF=0 rs563462073 20:46356891 T ENSG00000080189 ENST00000420518 Transcript intron_variant - - - - - rs563462073 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;FLAGS=cds_end_NF;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0004;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.002;SAS_AF=0 rs563462073 20:46356891 T ENSG00000080189 ENST00000424568 Transcript intron_variant - - - - - rs563462073 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;FLAGS=cds_end_NF;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0004;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.002;SAS_AF=0 rs563462073 20:46356891 T ENSG00000080189 ENST00000480329 Transcript upstream_gene_variant - - - - - rs563462073 IND=P1;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=1696;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0004;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.002;SAS_AF=0 rs563462073 20:46356891 T ENSG00000080189 ENST00000481809 Transcript intron_variant,non_coding_transcript_variant - - - - - rs563462073 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0004;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.002;SAS_AF=0 rs563462073 20:46356891 T ENSG00000080189 ENST00000484188 Transcript downstream_gene_variant - - - - - rs563462073 IND=P1;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=1536;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0004;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.002;SAS_AF=0 rs563462073 20:46356891 T ENSG00000080189 ENST00000484318 Transcript intron_variant,non_coding_transcript_variant - - - - - rs563462073 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0004;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.002;SAS_AF=0 rs563462073 20:46356891 T ENSG00000080189 ENST00000487729 Transcript intron_variant,non_coding_transcript_variant - - - - - rs563462073 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0004;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.002;SAS_AF=0 rs563462073 20:46356891 T ENSG00000080189 ENST00000493599 Transcript upstream_gene_variant - - - - - rs563462073 IND=P1;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=3694;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0004;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.002;SAS_AF=0 rs563462073 20:46356891 T ENSG00000080189 ENST00000543605 Transcript intron_variant - - - - - rs563462073 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0004;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.002;SAS_AF=0 rs182026026 20:46358109 A ENSG00000080189 ENST00000243896 Transcript intron_variant - - - - - rs182026026 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0062;AFR_AF=0.0227;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001 rs182026026 20:46358109 A ENSG00000080189 ENST00000317734 Transcript intron_variant - - - - - rs182026026 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0062;AFR_AF=0.0227;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001 rs182026026 20:46358109 A ENSG00000080189 ENST00000372227 Transcript intron_variant - - - - - rs182026026 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0062;AFR_AF=0.0227;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001 rs182026026 20:46358109 A ENSG00000080189 ENST00000372230 Transcript intron_variant - - - - - rs182026026 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0062;AFR_AF=0.0227;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001 rs182026026 20:46358109 A ENSG00000080189 ENST00000420518 Transcript intron_variant - - - - - rs182026026 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;FLAGS=cds_end_NF;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0062;AFR_AF=0.0227;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001 rs182026026 20:46358109 A ENSG00000080189 ENST00000424568 Transcript intron_variant - - - - - rs182026026 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;FLAGS=cds_end_NF;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0062;AFR_AF=0.0227;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001 rs182026026 20:46358109 A ENSG00000080189 ENST00000480329 Transcript upstream_gene_variant - - - - - rs182026026 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2914;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0062;AFR_AF=0.0227;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001 rs182026026 20:46358109 A ENSG00000080189 ENST00000481809 Transcript intron_variant,non_coding_transcript_variant - - - - - rs182026026 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0062;AFR_AF=0.0227;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001 rs182026026 20:46358109 A ENSG00000080189 ENST00000484188 Transcript downstream_gene_variant - - - - - rs182026026 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=318;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0062;AFR_AF=0.0227;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001 rs182026026 20:46358109 A ENSG00000080189 ENST00000484318 Transcript intron_variant,non_coding_transcript_variant - - - - - rs182026026 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0062;AFR_AF=0.0227;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001 rs182026026 20:46358109 A ENSG00000080189 ENST00000487729 Transcript upstream_gene_variant - - - - - rs182026026 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=408;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0062;AFR_AF=0.0227;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001 rs182026026 20:46358109 A ENSG00000080189 ENST00000493599 Transcript upstream_gene_variant - - - - - rs182026026 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=4912;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0062;AFR_AF=0.0227;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001 rs182026026 20:46358109 A ENSG00000080189 ENST00000543605 Transcript intron_variant - - - - - rs182026026 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0062;AFR_AF=0.0227;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001 rs569163855 20:46358263 T ENSG00000080189 ENST00000243896 Transcript intron_variant - - - - - rs569163855 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs569163855 20:46358263 T ENSG00000080189 ENST00000317734 Transcript intron_variant - - - - - rs569163855 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs569163855 20:46358263 T ENSG00000080189 ENST00000372227 Transcript intron_variant - - - - - rs569163855 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs569163855 20:46358263 T ENSG00000080189 ENST00000372230 Transcript intron_variant - - - - - rs569163855 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs569163855 20:46358263 T ENSG00000080189 ENST00000420518 Transcript intron_variant - - - - - rs569163855 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;FLAGS=cds_end_NF;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs569163855 20:46358263 T ENSG00000080189 ENST00000424568 Transcript intron_variant - - - - - rs569163855 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;FLAGS=cds_end_NF;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs569163855 20:46358263 T ENSG00000080189 ENST00000480329 Transcript upstream_gene_variant - - - - - rs569163855 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=3068;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs569163855 20:46358263 T ENSG00000080189 ENST00000481809 Transcript intron_variant,non_coding_transcript_variant - - - - - rs569163855 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs569163855 20:46358263 T ENSG00000080189 ENST00000484188 Transcript downstream_gene_variant - - - - - rs569163855 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=164;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs569163855 20:46358263 T ENSG00000080189 ENST00000484318 Transcript intron_variant,non_coding_transcript_variant - - - - - rs569163855 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs569163855 20:46358263 T ENSG00000080189 ENST00000487729 Transcript upstream_gene_variant - - - - - rs569163855 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=562;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs569163855 20:46358263 T ENSG00000080189 ENST00000543605 Transcript intron_variant - - - - - rs569163855 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs562148227 20:46359080 A ENSG00000080189 ENST00000243896 Transcript intron_variant - - - - - rs562148227 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0006;AFR_AF=0.0023;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs562148227 20:46359080 A ENSG00000080189 ENST00000317734 Transcript intron_variant - - - - - rs562148227 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0006;AFR_AF=0.0023;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs562148227 20:46359080 A ENSG00000080189 ENST00000372227 Transcript intron_variant - - - - - rs562148227 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0006;AFR_AF=0.0023;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs562148227 20:46359080 A ENSG00000080189 ENST00000372230 Transcript intron_variant - - - - - rs562148227 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0006;AFR_AF=0.0023;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs562148227 20:46359080 A ENSG00000080189 ENST00000420518 Transcript upstream_gene_variant - - - - - rs562148227 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=574;STRAND=-1;FLAGS=cds_end_NF;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0006;AFR_AF=0.0023;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs562148227 20:46359080 A ENSG00000080189 ENST00000424568 Transcript upstream_gene_variant - - - - - rs562148227 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=316;STRAND=-1;FLAGS=cds_end_NF;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0006;AFR_AF=0.0023;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs562148227 20:46359080 A ENSG00000080189 ENST00000480329 Transcript upstream_gene_variant - - - - - rs562148227 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=3885;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0006;AFR_AF=0.0023;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs562148227 20:46359080 A ENSG00000080189 ENST00000481809 Transcript intron_variant,non_coding_transcript_variant - - - - - rs562148227 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0006;AFR_AF=0.0023;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs562148227 20:46359080 A ENSG00000080189 ENST00000484188 Transcript intron_variant,non_coding_transcript_variant - - - - - rs562148227 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0006;AFR_AF=0.0023;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs562148227 20:46359080 A ENSG00000080189 ENST00000484318 Transcript intron_variant,non_coding_transcript_variant - - - - - rs562148227 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0006;AFR_AF=0.0023;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs562148227 20:46359080 A ENSG00000080189 ENST00000487729 Transcript upstream_gene_variant - - - - - rs562148227 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1379;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0006;AFR_AF=0.0023;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs562148227 20:46359080 A ENSG00000080189 ENST00000543605 Transcript intron_variant - - - - - rs562148227 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0006;AFR_AF=0.0023;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs540459127 20:46359385 A ENSG00000080189 ENST00000243896 Transcript intron_variant - - - - - rs540459127 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0004;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.002 rs540459127 20:46359385 A ENSG00000080189 ENST00000317734 Transcript intron_variant - - - - - rs540459127 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0004;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.002 rs540459127 20:46359385 A ENSG00000080189 ENST00000372227 Transcript intron_variant - - - - - rs540459127 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0004;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.002 rs540459127 20:46359385 A ENSG00000080189 ENST00000372230 Transcript intron_variant - - - - - rs540459127 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0004;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.002 rs540459127 20:46359385 A ENSG00000080189 ENST00000420518 Transcript upstream_gene_variant - - - - - rs540459127 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=879;STRAND=-1;FLAGS=cds_end_NF;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0004;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.002 rs540459127 20:46359385 A ENSG00000080189 ENST00000424568 Transcript upstream_gene_variant - - - - - rs540459127 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=621;STRAND=-1;FLAGS=cds_end_NF;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0004;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.002 rs540459127 20:46359385 A ENSG00000080189 ENST00000480329 Transcript upstream_gene_variant - - - - - rs540459127 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=4190;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0004;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.002 rs540459127 20:46359385 A ENSG00000080189 ENST00000481809 Transcript intron_variant,non_coding_transcript_variant - - - - - rs540459127 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0004;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.002 rs540459127 20:46359385 A ENSG00000080189 ENST00000484188 Transcript intron_variant,non_coding_transcript_variant - - - - - rs540459127 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0004;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.002 rs540459127 20:46359385 A ENSG00000080189 ENST00000484318 Transcript intron_variant,non_coding_transcript_variant - - - - - rs540459127 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0004;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.002 rs540459127 20:46359385 A ENSG00000080189 ENST00000487729 Transcript upstream_gene_variant - - - - - rs540459127 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1684;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0004;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.002 rs540459127 20:46359385 A ENSG00000080189 ENST00000543605 Transcript intron_variant - - - - - rs540459127 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0004;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.002 rs541890120 20:46362658 T ENSG00000080189 ENST00000243896 Transcript intron_variant - - - - - rs541890120 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0032;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.0164 rs541890120 20:46362658 T ENSG00000062598 ENST00000290246 Transcript downstream_gene_variant - - - - - rs541890120 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=3392;STRAND=-1;SYMBOL=ELMO2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17233;AF=0.0032;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.0164 rs541890120 20:46362658 T ENSG00000080189 ENST00000317734 Transcript intron_variant - - - - - rs541890120 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0032;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.0164 rs541890120 20:46362658 T ENSG00000062598 ENST00000352077 Transcript downstream_gene_variant - - - - - rs541890120 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=4702;STRAND=-1;SYMBOL=ELMO2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17233;AF=0.0032;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.0164 rs541890120 20:46362658 T ENSG00000062598 ENST00000372176 Transcript downstream_gene_variant - - - - - rs541890120 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=3392;STRAND=-1;SYMBOL=ELMO2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17233;AF=0.0032;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.0164 rs541890120 20:46362658 T ENSG00000080189 ENST00000372227 Transcript intron_variant - - - - - rs541890120 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0032;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.0164 rs541890120 20:46362658 T ENSG00000080189 ENST00000372230 Transcript intron_variant - - - - - rs541890120 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0032;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.0164 rs541890120 20:46362658 T ENSG00000062598 ENST00000396391 Transcript downstream_gene_variant - - - - - rs541890120 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=3397;STRAND=-1;SYMBOL=ELMO2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17233;AF=0.0032;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.0164 rs541890120 20:46362658 T ENSG00000080189 ENST00000420518 Transcript upstream_gene_variant - - - - - rs541890120 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=4152;STRAND=-1;FLAGS=cds_end_NF;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0032;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.0164 rs541890120 20:46362658 T ENSG00000080189 ENST00000424568 Transcript upstream_gene_variant - - - - - rs541890120 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=3894;STRAND=-1;FLAGS=cds_end_NF;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0032;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.0164 rs541890120 20:46362658 T ENSG00000062598 ENST00000452857 Transcript downstream_gene_variant - - - - - rs541890120 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=3396;STRAND=-1;FLAGS=cds_start_NF;SYMBOL=ELMO2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17233;AF=0.0032;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.0164 rs541890120 20:46362658 T ENSG00000062598 ENST00000467800 Transcript downstream_gene_variant - - - - - rs541890120 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=3392;STRAND=-1;FLAGS=cds_start_NF;SYMBOL=ELMO2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17233;AF=0.0032;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.0164 rs541890120 20:46362658 T ENSG00000080189 ENST00000481809 Transcript intron_variant,non_coding_transcript_variant - - - - - rs541890120 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0032;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.0164 rs541890120 20:46362658 T ENSG00000080189 ENST00000484188 Transcript intron_variant,non_coding_transcript_variant - - - - - rs541890120 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0032;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.0164 rs541890120 20:46362658 T ENSG00000080189 ENST00000484318 Transcript intron_variant,non_coding_transcript_variant - - - - - rs541890120 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0032;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.0164 rs541890120 20:46362658 T ENSG00000080189 ENST00000487729 Transcript upstream_gene_variant - - - - - rs541890120 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=4957;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0032;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.0164 rs541890120 20:46362658 T ENSG00000080189 ENST00000543605 Transcript intron_variant - - - - - rs541890120 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0032;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.0164 rs541890120 20:46362658 T ENSG00000273828 ENST00000612368 Transcript upstream_gene_variant - - - - - rs541890120 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1893;STRAND=1;AF=0.0032;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.0164 rs541890120 20:46362658 T ENSG00000273828 ENST00000651935 Transcript upstream_gene_variant - - - - - rs541890120 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1912;STRAND=1;AF=0.0032;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.0164 rs540589671 20:46363722 T ENSG00000080189 ENST00000243896 Transcript intron_variant - - - - - rs540589671 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0004;AFR_AF=0.0015;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs540589671 20:46363722 T ENSG00000062598 ENST00000290246 Transcript downstream_gene_variant - - - - - rs540589671 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2328;STRAND=-1;SYMBOL=ELMO2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17233;AF=0.0004;AFR_AF=0.0015;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs540589671 20:46363722 T ENSG00000080189 ENST00000317734 Transcript intron_variant - - - - - rs540589671 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0004;AFR_AF=0.0015;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs540589671 20:46363722 T ENSG00000062598 ENST00000352077 Transcript downstream_gene_variant - - - - - rs540589671 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=3638;STRAND=-1;SYMBOL=ELMO2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17233;AF=0.0004;AFR_AF=0.0015;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs540589671 20:46363722 T ENSG00000062598 ENST00000372176 Transcript downstream_gene_variant - - - - - rs540589671 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2328;STRAND=-1;SYMBOL=ELMO2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17233;AF=0.0004;AFR_AF=0.0015;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs540589671 20:46363722 T ENSG00000080189 ENST00000372227 Transcript upstream_gene_variant - - - - - rs540589671 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=548;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0004;AFR_AF=0.0015;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs540589671 20:46363722 T ENSG00000080189 ENST00000372230 Transcript intron_variant - - - - - rs540589671 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0004;AFR_AF=0.0015;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs540589671 20:46363722 T ENSG00000062598 ENST00000396391 Transcript downstream_gene_variant - - - - - rs540589671 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2333;STRAND=-1;SYMBOL=ELMO2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17233;AF=0.0004;AFR_AF=0.0015;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs540589671 20:46363722 T ENSG00000080189 ENST00000424568 Transcript upstream_gene_variant - - - - - rs540589671 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=4958;STRAND=-1;FLAGS=cds_end_NF;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0004;AFR_AF=0.0015;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs540589671 20:46363722 T ENSG00000062598 ENST00000452857 Transcript downstream_gene_variant - - - - - rs540589671 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2332;STRAND=-1;FLAGS=cds_start_NF;SYMBOL=ELMO2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17233;AF=0.0004;AFR_AF=0.0015;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs540589671 20:46363722 T ENSG00000062598 ENST00000467800 Transcript downstream_gene_variant - - - - - rs540589671 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2328;STRAND=-1;FLAGS=cds_start_NF;SYMBOL=ELMO2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17233;AF=0.0004;AFR_AF=0.0015;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs540589671 20:46363722 T ENSG00000080189 ENST00000481809 Transcript intron_variant,non_coding_transcript_variant - - - - - rs540589671 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0004;AFR_AF=0.0015;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs540589671 20:46363722 T ENSG00000080189 ENST00000484188 Transcript intron_variant,non_coding_transcript_variant - - - - - rs540589671 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0004;AFR_AF=0.0015;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs540589671 20:46363722 T ENSG00000080189 ENST00000484318 Transcript intron_variant,non_coding_transcript_variant - - - - - rs540589671 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0004;AFR_AF=0.0015;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs540589671 20:46363722 T ENSG00000080189 ENST00000543605 Transcript intron_variant - - - - - rs540589671 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0004;AFR_AF=0.0015;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs540589671 20:46363722 T ENSG00000273828 ENST00000612368 Transcript upstream_gene_variant - - - - - rs540589671 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=829;STRAND=1;AF=0.0004;AFR_AF=0.0015;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs540589671 20:46363722 T ENSG00000273828 ENST00000651935 Transcript upstream_gene_variant - - - - - rs540589671 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=848;STRAND=1;AF=0.0004;AFR_AF=0.0015;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs567278086 20:46363878 A ENSG00000080189 ENST00000243896 Transcript intron_variant - - - - - rs567278086 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs567278086 20:46363878 A ENSG00000062598 ENST00000290246 Transcript downstream_gene_variant - - - - - rs567278086 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2172;STRAND=-1;SYMBOL=ELMO2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17233;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs567278086 20:46363878 A ENSG00000080189 ENST00000317734 Transcript intron_variant - - - - - rs567278086 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs567278086 20:46363878 A ENSG00000062598 ENST00000352077 Transcript downstream_gene_variant - - - - - rs567278086 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=3482;STRAND=-1;SYMBOL=ELMO2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17233;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs567278086 20:46363878 A ENSG00000062598 ENST00000372176 Transcript downstream_gene_variant - - - - - rs567278086 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2172;STRAND=-1;SYMBOL=ELMO2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17233;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs567278086 20:46363878 A ENSG00000080189 ENST00000372227 Transcript upstream_gene_variant - - - - - rs567278086 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=704;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs567278086 20:46363878 A ENSG00000080189 ENST00000372230 Transcript intron_variant - - - - - rs567278086 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs567278086 20:46363878 A ENSG00000062598 ENST00000396391 Transcript downstream_gene_variant - - - - - rs567278086 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2177;STRAND=-1;SYMBOL=ELMO2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17233;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs567278086 20:46363878 A ENSG00000062598 ENST00000452857 Transcript downstream_gene_variant - - - - - rs567278086 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2176;STRAND=-1;FLAGS=cds_start_NF;SYMBOL=ELMO2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17233;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs567278086 20:46363878 A ENSG00000062598 ENST00000467800 Transcript downstream_gene_variant - - - - - rs567278086 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2172;STRAND=-1;FLAGS=cds_start_NF;SYMBOL=ELMO2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17233;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs567278086 20:46363878 A ENSG00000080189 ENST00000481809 Transcript intron_variant,non_coding_transcript_variant - - - - - rs567278086 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs567278086 20:46363878 A ENSG00000080189 ENST00000484188 Transcript intron_variant,non_coding_transcript_variant - - - - - rs567278086 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs567278086 20:46363878 A ENSG00000080189 ENST00000484318 Transcript intron_variant,non_coding_transcript_variant - - - - - rs567278086 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs567278086 20:46363878 A ENSG00000080189 ENST00000543605 Transcript intron_variant - - - - - rs567278086 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=SLC35C2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17117;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs567278086 20:46363878 A ENSG00000273828 ENST00000612368 Transcript upstream_gene_variant - - - - - rs567278086 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=673;STRAND=1;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs567278086 20:46363878 A ENSG00000273828 ENST00000651935 Transcript upstream_gene_variant - - - - - rs567278086 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=692;STRAND=1;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs565466934 3:44729601 G ENSG00000186446 ENST00000396048 Transcript 5_prime_UTR_variant 6 - - - - rs565466934 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=ZNF501;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23717;AF=0.0004;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.002 rs565466934 3:44729601 G ENSG00000186446 ENST00000484233 Transcript upstream_gene_variant - - - - - rs565466934 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=180;STRAND=1;SYMBOL=ZNF501;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23717;AF=0.0004;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.002 rs565466934 3:44729601 G ENSG00000186446 ENST00000486486 Transcript upstream_gene_variant - - - - - rs565466934 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=23;STRAND=1;SYMBOL=ZNF501;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23717;AF=0.0004;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.002 rs565466934 3:44729601 G ENSG00000186446 ENST00000620116 Transcript upstream_gene_variant - - - - - rs565466934 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=34;STRAND=1;SYMBOL=ZNF501;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23717;AF=0.0004;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.002 rs536732973 3:44729783 T ENSG00000186446 ENST00000396048 Transcript intron_variant - - - - - rs536732973 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=ZNF501;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23717;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001 rs536732973 3:44729783 T ENSG00000186446 ENST00000484233 Transcript non_coding_transcript_exon_variant 3 - - - - rs536732973 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=ZNF501;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23717;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001 rs536732973 3:44729783 T ENSG00000186446 ENST00000486486 Transcript intron_variant,non_coding_transcript_variant - - - - - rs536732973 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=ZNF501;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23717;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001 rs536732973 3:44729783 T ENSG00000186446 ENST00000620116 Transcript 5_prime_UTR_variant 149 - - - - rs536732973 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=ZNF501;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23717;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001 rs148442019 3:44730303 G ENSG00000186446 ENST00000396048 Transcript intron_variant - - - - - rs148442019 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=ZNF501;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23717;AF=0.0042;AFR_AF=0.0136;AMR_AF=0.0043;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs148442019 3:44730303 G ENSG00000186446 ENST00000484233 Transcript intron_variant,non_coding_transcript_variant - - - - - rs148442019 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=ZNF501;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23717;AF=0.0042;AFR_AF=0.0136;AMR_AF=0.0043;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs148442019 3:44730303 G ENSG00000186446 ENST00000486486 Transcript intron_variant,non_coding_transcript_variant - - - - - rs148442019 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=ZNF501;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23717;AF=0.0042;AFR_AF=0.0136;AMR_AF=0.0043;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs148442019 3:44730303 G ENSG00000186446 ENST00000620116 Transcript intron_variant - - - - - rs148442019 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=ZNF501;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23717;AF=0.0042;AFR_AF=0.0136;AMR_AF=0.0043;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs146715527 3:44731294 T ENSG00000186446 ENST00000396048 Transcript intron_variant - - - - - rs146715527 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=ZNF501;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23717;AF=0.0042;AFR_AF=0.0136;AMR_AF=0.0043;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs146715527 3:44731294 T ENSG00000186446 ENST00000484233 Transcript intron_variant,non_coding_transcript_variant - - - - - rs146715527 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=ZNF501;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23717;AF=0.0042;AFR_AF=0.0136;AMR_AF=0.0043;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs146715527 3:44731294 T ENSG00000186446 ENST00000486486 Transcript intron_variant,non_coding_transcript_variant - - - - - rs146715527 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=ZNF501;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23717;AF=0.0042;AFR_AF=0.0136;AMR_AF=0.0043;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs146715527 3:44731294 T ENSG00000186446 ENST00000620116 Transcript intron_variant - - - - - rs146715527 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=ZNF501;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23717;AF=0.0042;AFR_AF=0.0136;AMR_AF=0.0043;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs574727606 3:44732420 T ENSG00000186446 ENST00000396048 Transcript intron_variant - - - - - rs574727606 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=ZNF501;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23717;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs574727606 3:44732420 T ENSG00000186446 ENST00000484233 Transcript downstream_gene_variant - - - - - rs574727606 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=155;STRAND=1;SYMBOL=ZNF501;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23717;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs574727606 3:44732420 T ENSG00000186446 ENST00000486486 Transcript downstream_gene_variant - - - - - rs574727606 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=501;STRAND=1;SYMBOL=ZNF501;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23717;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs574727606 3:44732420 T ENSG00000186446 ENST00000620116 Transcript intron_variant - - - - - rs574727606 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=ZNF501;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23717;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs528997422 3:44734106 A ENSG00000186446 ENST00000396048 Transcript intron_variant - - - - - rs528997422 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=ZNF501;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23717;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001 rs528997422 3:44734106 A ENSG00000186446 ENST00000484233 Transcript downstream_gene_variant - - - - - rs528997422 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1841;STRAND=1;SYMBOL=ZNF501;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23717;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001 rs528997422 3:44734106 A ENSG00000163807 ENST00000484437 Transcript downstream_gene_variant - - - - - rs528997422 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=3555;STRAND=-1;SYMBOL=KIAA1143;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29198;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001 rs528997422 3:44734106 A ENSG00000186446 ENST00000486486 Transcript downstream_gene_variant - - - - - rs528997422 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2187;STRAND=1;SYMBOL=ZNF501;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23717;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001 rs528997422 3:44734106 A ENSG00000186446 ENST00000620116 Transcript intron_variant - - - - - rs528997422 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=ZNF501;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23717;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001 rs185663012 3:44734719 A ENSG00000186446 ENST00000396048 Transcript missense_variant 735 298 100 H/N Cat/Aat rs185663012 IND=P2;ZYG=HOM;IMPACT=MODERATE;STRAND=1;SYMBOL=ZNF501;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23717;SIFT=deleterious_low_confidence(0);PolyPhen=probably_damaging(0.998);AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=1.996e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=4.409e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs185663012 3:44734719 A ENSG00000186446 ENST00000484233 Transcript downstream_gene_variant - - - - - rs185663012 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=2454;STRAND=1;SYMBOL=ZNF501;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23717;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=1.996e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=4.409e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs185663012 3:44734719 A ENSG00000163807 ENST00000484437 Transcript downstream_gene_variant - - - - - rs185663012 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=2942;STRAND=-1;SYMBOL=KIAA1143;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29198;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=1.996e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=4.409e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs185663012 3:44734719 A ENSG00000186446 ENST00000486486 Transcript downstream_gene_variant - - - - - rs185663012 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=2800;STRAND=1;SYMBOL=ZNF501;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23717;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=1.996e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=4.409e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs185663012 3:44734719 A ENSG00000186446 ENST00000620116 Transcript missense_variant 989 298 100 H/N Cat/Aat rs185663012 IND=P2;ZYG=HOM;IMPACT=MODERATE;STRAND=1;SYMBOL=ZNF501;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23717;SIFT=deleterious_low_confidence(0);PolyPhen=probably_damaging(0.998);AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=1.996e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=4.409e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs201711373 3:44734996 C ENSG00000186446 ENST00000396048 Transcript missense_variant 1012 575 192 C/S tGc/tCc rs201711373 IND=P1;ZYG=HOM;IMPACT=MODERATE;STRAND=1;SYMBOL=ZNF501;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23717;SIFT=deleterious_low_confidence(0);PolyPhen=probably_damaging(1);AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=1.199e-05;gnomAD_AFR_AF=0.0001927;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs201711373 3:44734996 C ENSG00000186446 ENST00000484233 Transcript downstream_gene_variant - - - - - rs201711373 IND=P1;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=2731;STRAND=1;SYMBOL=ZNF501;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23717;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=1.199e-05;gnomAD_AFR_AF=0.0001927;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs201711373 3:44734996 C ENSG00000163807 ENST00000484437 Transcript downstream_gene_variant - - - - - rs201711373 IND=P1;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=2665;STRAND=-1;SYMBOL=KIAA1143;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29198;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=1.199e-05;gnomAD_AFR_AF=0.0001927;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs201711373 3:44734996 C ENSG00000186446 ENST00000486486 Transcript downstream_gene_variant - - - - - rs201711373 IND=P1;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=3077;STRAND=1;SYMBOL=ZNF501;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23717;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=1.199e-05;gnomAD_AFR_AF=0.0001927;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs201711373 3:44734996 C ENSG00000186446 ENST00000620116 Transcript missense_variant 1266 575 192 C/S tGc/tCc rs201711373 IND=P1;ZYG=HOM;IMPACT=MODERATE;STRAND=1;SYMBOL=ZNF501;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23717;SIFT=deleterious_low_confidence(0);PolyPhen=probably_damaging(1);AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=1.199e-05;gnomAD_AFR_AF=0.0001927;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs372150222 3:44735028 C ENSG00000186446 ENST00000396048 Transcript missense_variant 1044 607 203 S/P Tct/Cct rs372150222 IND=P1;ZYG=HET;IMPACT=MODERATE;STRAND=1;SYMBOL=ZNF501;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23717;SIFT=deleterious_low_confidence(0.01);PolyPhen=possibly_damaging(0.651);AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=3.997e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=2.892e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs372150222 3:44735028 C ENSG00000186446 ENST00000484233 Transcript downstream_gene_variant - - - - - rs372150222 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2763;STRAND=1;SYMBOL=ZNF501;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23717;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=3.997e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=2.892e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs372150222 3:44735028 C ENSG00000163807 ENST00000484437 Transcript downstream_gene_variant - - - - - rs372150222 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2633;STRAND=-1;SYMBOL=KIAA1143;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29198;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=3.997e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=2.892e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs372150222 3:44735028 C ENSG00000186446 ENST00000486486 Transcript downstream_gene_variant - - - - - rs372150222 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=3109;STRAND=1;SYMBOL=ZNF501;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23717;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=3.997e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=2.892e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs372150222 3:44735028 C ENSG00000186446 ENST00000620116 Transcript missense_variant 1298 607 203 S/P Tct/Cct rs372150222 IND=P1;ZYG=HET;IMPACT=MODERATE;STRAND=1;SYMBOL=ZNF501;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23717;SIFT=deleterious_low_confidence(0.01);PolyPhen=possibly_damaging(0.651);AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=3.997e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=2.892e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs372723266 3:44735080 A ENSG00000186446 ENST00000396048 Transcript missense_variant 1096 659 220 C/Y tGt/tAt rs372723266 IND=P2;ZYG=HET;IMPACT=MODERATE;STRAND=1;SYMBOL=ZNF501;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23717;SIFT=deleterious_low_confidence(0.02);PolyPhen=probably_damaging(0.999);AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=5.198e-05;gnomAD_AFR_AF=0.0004511;gnomAD_AMR_AF=0.0001447;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0.0001649;gnomAD_SAS_AF=0 rs372723266 3:44735080 A ENSG00000186446 ENST00000484233 Transcript downstream_gene_variant - - - - - rs372723266 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2815;STRAND=1;SYMBOL=ZNF501;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23717;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=5.198e-05;gnomAD_AFR_AF=0.0004511;gnomAD_AMR_AF=0.0001447;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0.0001649;gnomAD_SAS_AF=0 rs372723266 3:44735080 A ENSG00000163807 ENST00000484437 Transcript downstream_gene_variant - - - - - rs372723266 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2581;STRAND=-1;SYMBOL=KIAA1143;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29198;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=5.198e-05;gnomAD_AFR_AF=0.0004511;gnomAD_AMR_AF=0.0001447;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0.0001649;gnomAD_SAS_AF=0 rs372723266 3:44735080 A ENSG00000186446 ENST00000486486 Transcript downstream_gene_variant - - - - - rs372723266 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=3161;STRAND=1;SYMBOL=ZNF501;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23717;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=5.198e-05;gnomAD_AFR_AF=0.0004511;gnomAD_AMR_AF=0.0001447;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0.0001649;gnomAD_SAS_AF=0 rs372723266 3:44735080 A ENSG00000186446 ENST00000620116 Transcript missense_variant 1350 659 220 C/Y tGt/tAt rs372723266 IND=P2;ZYG=HET;IMPACT=MODERATE;STRAND=1;SYMBOL=ZNF501;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23717;SIFT=deleterious_low_confidence(0.02);PolyPhen=probably_damaging(0.999);AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=5.198e-05;gnomAD_AFR_AF=0.0004511;gnomAD_AMR_AF=0.0001447;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0.0001649;gnomAD_SAS_AF=0 rs375975679 3:44735611 C ENSG00000186446 ENST00000396048 Transcript 3_prime_UTR_variant 1627 - - - - rs375975679 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=ZNF501;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23717;AF=0.0004;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.002 rs375975679 3:44735611 C ENSG00000186446 ENST00000484233 Transcript downstream_gene_variant - - - - - rs375975679 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=3346;STRAND=1;SYMBOL=ZNF501;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23717;AF=0.0004;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.002 rs375975679 3:44735611 C ENSG00000163807 ENST00000484437 Transcript downstream_gene_variant - - - - - rs375975679 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2050;STRAND=-1;SYMBOL=KIAA1143;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29198;AF=0.0004;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.002 rs375975679 3:44735611 C ENSG00000186446 ENST00000486486 Transcript downstream_gene_variant - - - - - rs375975679 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=3692;STRAND=1;SYMBOL=ZNF501;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23717;AF=0.0004;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.002 rs375975679 3:44735611 C ENSG00000186446 ENST00000620116 Transcript 3_prime_UTR_variant 1881 - - - - rs375975679 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=ZNF501;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23717;AF=0.0004;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.002 rs555199418 3:44735652 C ENSG00000186446 ENST00000396048 Transcript 3_prime_UTR_variant 1668 - - - - rs555199418 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=ZNF501;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23717;AF=0.0008;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.0041 rs555199418 3:44735652 C ENSG00000186446 ENST00000484233 Transcript downstream_gene_variant - - - - - rs555199418 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=3387;STRAND=1;SYMBOL=ZNF501;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23717;AF=0.0008;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.0041 rs555199418 3:44735652 C ENSG00000163807 ENST00000484437 Transcript downstream_gene_variant - - - - - rs555199418 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2009;STRAND=-1;SYMBOL=KIAA1143;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29198;AF=0.0008;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.0041 rs555199418 3:44735652 C ENSG00000186446 ENST00000486486 Transcript downstream_gene_variant - - - - - rs555199418 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=3733;STRAND=1;SYMBOL=ZNF501;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23717;AF=0.0008;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.0041 rs555199418 3:44735652 C ENSG00000186446 ENST00000620116 Transcript 3_prime_UTR_variant 1922 - - - - rs555199418 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=ZNF501;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23717;AF=0.0008;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.0041 rs188699749 3:44735671 A ENSG00000186446 ENST00000396048 Transcript 3_prime_UTR_variant 1687 - - - - rs188699749 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=ZNF501;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23717;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs188699749 3:44735671 A ENSG00000186446 ENST00000484233 Transcript downstream_gene_variant - - - - - rs188699749 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=3406;STRAND=1;SYMBOL=ZNF501;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23717;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs188699749 3:44735671 A ENSG00000163807 ENST00000484437 Transcript downstream_gene_variant - - - - - rs188699749 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=1990;STRAND=-1;SYMBOL=KIAA1143;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29198;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs188699749 3:44735671 A ENSG00000186446 ENST00000486486 Transcript downstream_gene_variant - - - - - rs188699749 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=3752;STRAND=1;SYMBOL=ZNF501;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23717;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs188699749 3:44735671 A ENSG00000186446 ENST00000620116 Transcript 3_prime_UTR_variant 1941 - - - - rs188699749 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=ZNF501;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23717;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs191619485 3:44736667 A ENSG00000186446 ENST00000396048 Transcript 3_prime_UTR_variant 2683 - - - - rs191619485 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=ZNF501;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23717;AF=0.0004;AFR_AF=0.0015;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs191619485 3:44736667 A ENSG00000186446 ENST00000484233 Transcript downstream_gene_variant - - - - - rs191619485 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=4402;STRAND=1;SYMBOL=ZNF501;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23717;AF=0.0004;AFR_AF=0.0015;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs191619485 3:44736667 A ENSG00000163807 ENST00000484437 Transcript downstream_gene_variant - - - - - rs191619485 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=994;STRAND=-1;SYMBOL=KIAA1143;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29198;AF=0.0004;AFR_AF=0.0015;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs191619485 3:44736667 A ENSG00000186446 ENST00000486486 Transcript downstream_gene_variant - - - - - rs191619485 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=4748;STRAND=1;SYMBOL=ZNF501;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23717;AF=0.0004;AFR_AF=0.0015;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs191619485 3:44736667 A ENSG00000186446 ENST00000620116 Transcript 3_prime_UTR_variant 2937 - - - - rs191619485 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=ZNF501;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23717;AF=0.0004;AFR_AF=0.0015;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs76485678 3:44736775 A ENSG00000186446 ENST00000396048 Transcript 3_prime_UTR_variant 2791 - - - - rs76485678 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=ZNF501;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23717;AF=0.0154;AFR_AF=0.0575;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs76485678 3:44736775 A ENSG00000186446 ENST00000484233 Transcript downstream_gene_variant - - - - - rs76485678 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=4510;STRAND=1;SYMBOL=ZNF501;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23717;AF=0.0154;AFR_AF=0.0575;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs76485678 3:44736775 A ENSG00000163807 ENST00000484437 Transcript downstream_gene_variant - - - - - rs76485678 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=886;STRAND=-1;SYMBOL=KIAA1143;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29198;AF=0.0154;AFR_AF=0.0575;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs76485678 3:44736775 A ENSG00000186446 ENST00000486486 Transcript downstream_gene_variant - - - - - rs76485678 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=4856;STRAND=1;SYMBOL=ZNF501;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23717;AF=0.0154;AFR_AF=0.0575;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs76485678 3:44736775 A ENSG00000186446 ENST00000620116 Transcript 3_prime_UTR_variant 3045 - - - - rs76485678 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=ZNF501;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23717;AF=0.0154;AFR_AF=0.0575;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs587709355 3:50267571 T ENSG00000232352 ENST00000421735 Transcript upstream_gene_variant - - - - - rs587709355 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=30;STRAND=-1;SYMBOL=SEMA3B-AS1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:49096;AF=0.0010;AFR_AF=0.0038;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs587709355 3:50267571 T ENSG00000230454 ENST00000426302 Transcript downstream_gene_variant - - - - - rs587709355 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=4259;STRAND=1;AF=0.0010;AFR_AF=0.0038;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs587709355 3:50267571 T ENSG00000012171 ENST00000433753 Transcript upstream_gene_variant - - - - - rs587709355 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=1598;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0010;AFR_AF=0.0038;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs587709355 3:50267571 T ENSG00000230454 ENST00000439898 Transcript downstream_gene_variant - - - - - rs587709355 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=4213;STRAND=1;AF=0.0010;AFR_AF=0.0038;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs587709355 3:50267571 T ENSG00000012171 ENST00000441915 Transcript upstream_gene_variant - - - - - rs587709355 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=2990;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0010;AFR_AF=0.0038;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs587709355 3:50267571 T ENSG00000012171 ENST00000611067 Transcript upstream_gene_variant - - - - - rs587709355 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=1643;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0010;AFR_AF=0.0038;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs587709355 3:50267571 T ENSG00000012171 ENST00000612509 Transcript upstream_gene_variant - - - - - rs587709355 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=1594;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0010;AFR_AF=0.0038;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs587709355 3:50267571 T ENSG00000012171 ENST00000616701 Transcript upstream_gene_variant - - - - - rs587709355 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=1576;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0010;AFR_AF=0.0038;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs587709355 3:50267571 T ENSG00000012171 ENST00000618865 Transcript upstream_gene_variant - - - - - rs587709355 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=37;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0010;AFR_AF=0.0038;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs587709355 3:50267571 T ENSG00000012171 ENST00000619119 Transcript upstream_gene_variant - - - - - rs587709355 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=1303;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0010;AFR_AF=0.0038;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs587709355 3:50267571 T ENSG00000012171 ENST00000621029 Transcript 5_prime_UTR_variant 14 - - - - rs587709355 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_end_NF;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0010;AFR_AF=0.0038;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs587709355 3:50267571 T ENSG00000232352 ENST00000686401 Transcript upstream_gene_variant - - - - - rs587709355 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=38;STRAND=-1;SYMBOL=SEMA3B-AS1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:49096;AF=0.0010;AFR_AF=0.0038;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs587759252 3:50267636 G ENSG00000232352 ENST00000421735 Transcript upstream_gene_variant - - - - - rs587759252 IND=P1;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=95;STRAND=-1;SYMBOL=SEMA3B-AS1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:49096;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs587759252 3:50267636 G ENSG00000230454 ENST00000426302 Transcript downstream_gene_variant - - - - - rs587759252 IND=P1;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=4324;STRAND=1;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs587759252 3:50267636 G ENSG00000012171 ENST00000433753 Transcript upstream_gene_variant - - - - - rs587759252 IND=P1;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=1533;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs587759252 3:50267636 G ENSG00000230454 ENST00000439898 Transcript downstream_gene_variant - - - - - rs587759252 IND=P1;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=4278;STRAND=1;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs587759252 3:50267636 G ENSG00000012171 ENST00000441915 Transcript upstream_gene_variant - - - - - rs587759252 IND=P1;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=2925;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs587759252 3:50267636 G ENSG00000012171 ENST00000611067 Transcript upstream_gene_variant - - - - - rs587759252 IND=P1;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=1578;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs587759252 3:50267636 G ENSG00000012171 ENST00000612509 Transcript upstream_gene_variant - - - - - rs587759252 IND=P1;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=1529;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs587759252 3:50267636 G ENSG00000012171 ENST00000616701 Transcript upstream_gene_variant - - - - - rs587759252 IND=P1;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=1511;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs587759252 3:50267636 G ENSG00000012171 ENST00000618865 Transcript 5_prime_UTR_variant 29 - - - - rs587759252 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs587759252 3:50267636 G ENSG00000012171 ENST00000619119 Transcript upstream_gene_variant - - - - - rs587759252 IND=P1;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=1238;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs587759252 3:50267636 G ENSG00000012171 ENST00000621029 Transcript 5_prime_UTR_variant 79 - - - - rs587759252 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_end_NF;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs587759252 3:50267636 G ENSG00000232352 ENST00000686401 Transcript upstream_gene_variant - - - - - rs587759252 IND=P1;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=103;STRAND=-1;SYMBOL=SEMA3B-AS1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:49096;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs587602120 3:50267695 A ENSG00000232352 ENST00000421735 Transcript upstream_gene_variant - - - - - rs587602120 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=154;STRAND=-1;SYMBOL=SEMA3B-AS1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:49096;AF=0.0022;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0.004;EUR_AF=0;SAS_AF=0.0061 rs587602120 3:50267695 A ENSG00000230454 ENST00000426302 Transcript downstream_gene_variant - - - - - rs587602120 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=4383;STRAND=1;AF=0.0022;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0.004;EUR_AF=0;SAS_AF=0.0061 rs587602120 3:50267695 A ENSG00000012171 ENST00000433753 Transcript upstream_gene_variant - - - - - rs587602120 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=1474;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0022;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0.004;EUR_AF=0;SAS_AF=0.0061 rs587602120 3:50267695 A ENSG00000230454 ENST00000439898 Transcript downstream_gene_variant - - - - - rs587602120 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=4337;STRAND=1;AF=0.0022;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0.004;EUR_AF=0;SAS_AF=0.0061 rs587602120 3:50267695 A ENSG00000012171 ENST00000441915 Transcript upstream_gene_variant - - - - - rs587602120 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=2866;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0022;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0.004;EUR_AF=0;SAS_AF=0.0061 rs587602120 3:50267695 A ENSG00000012171 ENST00000611067 Transcript upstream_gene_variant - - - - - rs587602120 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=1519;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0022;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0.004;EUR_AF=0;SAS_AF=0.0061 rs587602120 3:50267695 A ENSG00000012171 ENST00000612509 Transcript upstream_gene_variant - - - - - rs587602120 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=1470;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0022;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0.004;EUR_AF=0;SAS_AF=0.0061 rs587602120 3:50267695 A ENSG00000012171 ENST00000616701 Transcript upstream_gene_variant - - - - - rs587602120 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=1452;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0022;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0.004;EUR_AF=0;SAS_AF=0.0061 rs587602120 3:50267695 A ENSG00000012171 ENST00000618865 Transcript 5_prime_UTR_variant 88 - - - - rs587602120 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0022;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0.004;EUR_AF=0;SAS_AF=0.0061 rs587602120 3:50267695 A ENSG00000012171 ENST00000619119 Transcript upstream_gene_variant - - - - - rs587602120 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=1179;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0022;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0.004;EUR_AF=0;SAS_AF=0.0061 rs587602120 3:50267695 A ENSG00000012171 ENST00000621029 Transcript 5_prime_UTR_variant 138 - - - - rs587602120 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_end_NF;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0022;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0.004;EUR_AF=0;SAS_AF=0.0061 rs587602120 3:50267695 A ENSG00000232352 ENST00000686401 Transcript upstream_gene_variant - - - - - rs587602120 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=162;STRAND=-1;SYMBOL=SEMA3B-AS1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:49096;AF=0.0022;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0.004;EUR_AF=0;SAS_AF=0.0061 rs80063532 3:50268140 A ENSG00000232352 ENST00000421735 Transcript upstream_gene_variant - - - - - rs80063532 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=599;STRAND=-1;SYMBOL=SEMA3B-AS1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:49096;AF=0.0032;AFR_AF=0;AMR_AF=0;EAS_AF=0.0119;EUR_AF=0;SAS_AF=0.0041 rs80063532 3:50268140 A ENSG00000230454 ENST00000426302 Transcript downstream_gene_variant - - - - - rs80063532 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=4828;STRAND=1;AF=0.0032;AFR_AF=0;AMR_AF=0;EAS_AF=0.0119;EUR_AF=0;SAS_AF=0.0041 rs80063532 3:50268140 A ENSG00000012171 ENST00000433753 Transcript upstream_gene_variant - - - - - rs80063532 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1029;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0032;AFR_AF=0;AMR_AF=0;EAS_AF=0.0119;EUR_AF=0;SAS_AF=0.0041 rs80063532 3:50268140 A ENSG00000012171 ENST00000439487 Transcript upstream_gene_variant - - - - - rs80063532 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=4990;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0032;AFR_AF=0;AMR_AF=0;EAS_AF=0.0119;EUR_AF=0;SAS_AF=0.0041 rs80063532 3:50268140 A ENSG00000230454 ENST00000439898 Transcript downstream_gene_variant - - - - - rs80063532 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=4782;STRAND=1;AF=0.0032;AFR_AF=0;AMR_AF=0;EAS_AF=0.0119;EUR_AF=0;SAS_AF=0.0041 rs80063532 3:50268140 A ENSG00000012171 ENST00000441915 Transcript upstream_gene_variant - - - - - rs80063532 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2421;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0032;AFR_AF=0;AMR_AF=0;EAS_AF=0.0119;EUR_AF=0;SAS_AF=0.0041 rs80063532 3:50268140 A ENSG00000012171 ENST00000456560 Transcript upstream_gene_variant - - - - - rs80063532 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=4979;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0032;AFR_AF=0;AMR_AF=0;EAS_AF=0.0119;EUR_AF=0;SAS_AF=0.0041 rs80063532 3:50268140 A ENSG00000012171 ENST00000611067 Transcript upstream_gene_variant - - - - - rs80063532 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1074;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0032;AFR_AF=0;AMR_AF=0;EAS_AF=0.0119;EUR_AF=0;SAS_AF=0.0041 rs80063532 3:50268140 A ENSG00000012171 ENST00000612509 Transcript upstream_gene_variant - - - - - rs80063532 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1025;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0032;AFR_AF=0;AMR_AF=0;EAS_AF=0.0119;EUR_AF=0;SAS_AF=0.0041 rs80063532 3:50268140 A ENSG00000012171 ENST00000616701 Transcript upstream_gene_variant - - - - - rs80063532 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1007;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0032;AFR_AF=0;AMR_AF=0;EAS_AF=0.0119;EUR_AF=0;SAS_AF=0.0041 rs80063532 3:50268140 A ENSG00000012171 ENST00000618865 Transcript intron_variant - - - - - rs80063532 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0032;AFR_AF=0;AMR_AF=0;EAS_AF=0.0119;EUR_AF=0;SAS_AF=0.0041 rs80063532 3:50268140 A ENSG00000012171 ENST00000619119 Transcript upstream_gene_variant - - - - - rs80063532 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=734;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0032;AFR_AF=0;AMR_AF=0;EAS_AF=0.0119;EUR_AF=0;SAS_AF=0.0041 rs80063532 3:50268140 A ENSG00000012171 ENST00000621029 Transcript intron_variant - - - - - rs80063532 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_end_NF;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0032;AFR_AF=0;AMR_AF=0;EAS_AF=0.0119;EUR_AF=0;SAS_AF=0.0041 rs80063532 3:50268140 A ENSG00000232352 ENST00000686401 Transcript upstream_gene_variant - - - - - rs80063532 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=607;STRAND=-1;SYMBOL=SEMA3B-AS1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:49096;AF=0.0032;AFR_AF=0;AMR_AF=0;EAS_AF=0.0119;EUR_AF=0;SAS_AF=0.0041 rs587701318 3:50268561 T ENSG00000012171 ENST00000418576 Transcript upstream_gene_variant - - - - - rs587701318 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=4599;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs587701318 3:50268561 T ENSG00000012171 ENST00000419007 Transcript upstream_gene_variant - - - - - rs587701318 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=4785;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs587701318 3:50268561 T ENSG00000232352 ENST00000421735 Transcript upstream_gene_variant - - - - - rs587701318 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1020;STRAND=-1;SYMBOL=SEMA3B-AS1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:49096;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs587701318 3:50268561 T ENSG00000012171 ENST00000433753 Transcript upstream_gene_variant - - - - - rs587701318 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=608;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs587701318 3:50268561 T ENSG00000012171 ENST00000434030 Transcript upstream_gene_variant - - - - - rs587701318 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=4591;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs587701318 3:50268561 T ENSG00000012171 ENST00000439487 Transcript upstream_gene_variant - - - - - rs587701318 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=4569;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs587701318 3:50268561 T ENSG00000012171 ENST00000441915 Transcript upstream_gene_variant - - - - - rs587701318 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2000;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs587701318 3:50268561 T ENSG00000012171 ENST00000456210 Transcript upstream_gene_variant - - - - - rs587701318 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=4596;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs587701318 3:50268561 T ENSG00000012171 ENST00000456560 Transcript upstream_gene_variant - - - - - rs587701318 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=4558;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs587701318 3:50268561 T ENSG00000012171 ENST00000611067 Transcript upstream_gene_variant - - - - - rs587701318 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=653;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs587701318 3:50268561 T ENSG00000012171 ENST00000612509 Transcript upstream_gene_variant - - - - - rs587701318 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=604;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs587701318 3:50268561 T ENSG00000283848 ENST00000612981 Transcript upstream_gene_variant - - - - - rs587701318 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=4675;STRAND=1;SYMBOL=MIR6872;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:50037;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs587701318 3:50268561 T ENSG00000012171 ENST00000616701 Transcript upstream_gene_variant - - - - - rs587701318 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=586;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs587701318 3:50268561 T ENSG00000012171 ENST00000618865 Transcript intron_variant - - - - - rs587701318 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs587701318 3:50268561 T ENSG00000012171 ENST00000619119 Transcript upstream_gene_variant - - - - - rs587701318 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=313;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs587701318 3:50268561 T ENSG00000012171 ENST00000621029 Transcript intron_variant - - - - - rs587701318 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_end_NF;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs587701318 3:50268561 T ENSG00000232352 ENST00000686401 Transcript upstream_gene_variant - - - - - rs587701318 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1028;STRAND=-1;SYMBOL=SEMA3B-AS1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:49096;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs587618842 3:50269329 A ENSG00000012171 ENST00000418576 Transcript upstream_gene_variant - - - - - rs587618842,COSV60352151 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=3831;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0004;AFR_AF=0.0015;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=9.223e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=6.208e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs587618842 3:50269329 A ENSG00000012171 ENST00000419007 Transcript upstream_gene_variant - - - - - rs587618842,COSV60352151 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=4017;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0004;AFR_AF=0.0015;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=9.223e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=6.208e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs587618842 3:50269329 A ENSG00000232352 ENST00000421735 Transcript upstream_gene_variant - - - - - rs587618842,COSV60352151 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1788;STRAND=-1;SYMBOL=SEMA3B-AS1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:49096;AF=0.0004;AFR_AF=0.0015;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=9.223e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=6.208e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs587618842 3:50269329 A ENSG00000012171 ENST00000433753 Transcript missense_variant 161 89 30 R/H cGc/cAc rs587618842,COSV60352151 IND=P2;ZYG=HET;IMPACT=MODERATE;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;SIFT=deleterious(0);PolyPhen=possibly_damaging(0.495);AF=0.0004;AFR_AF=0.0015;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=9.223e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=6.208e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs587618842 3:50269329 A ENSG00000012171 ENST00000434030 Transcript upstream_gene_variant - - - - - rs587618842,COSV60352151 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=3823;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0004;AFR_AF=0.0015;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=9.223e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=6.208e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs587618842 3:50269329 A ENSG00000012171 ENST00000439487 Transcript upstream_gene_variant - - - - - rs587618842,COSV60352151 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=3801;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0004;AFR_AF=0.0015;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=9.223e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=6.208e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs587618842 3:50269329 A ENSG00000012171 ENST00000441915 Transcript upstream_gene_variant - - - - - rs587618842,COSV60352151 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1232;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0004;AFR_AF=0.0015;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=9.223e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=6.208e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs587618842 3:50269329 A ENSG00000012171 ENST00000456210 Transcript upstream_gene_variant - - - - - rs587618842,COSV60352151 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=3828;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0004;AFR_AF=0.0015;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=9.223e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=6.208e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs587618842 3:50269329 A ENSG00000012171 ENST00000456560 Transcript upstream_gene_variant - - - - - rs587618842,COSV60352151 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=3790;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0004;AFR_AF=0.0015;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=9.223e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=6.208e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs587618842 3:50269329 A ENSG00000012171 ENST00000611067 Transcript missense_variant 116 89 30 R/H cGc/cAc rs587618842,COSV60352151 IND=P2;ZYG=HET;IMPACT=MODERATE;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;SIFT=deleterious(0);PolyPhen=probably_damaging(0.998);AF=0.0004;AFR_AF=0.0015;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=9.223e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=6.208e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs587618842 3:50269329 A ENSG00000012171 ENST00000612509 Transcript non_coding_transcript_exon_variant 165 - - - - rs587618842,COSV60352151 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0004;AFR_AF=0.0015;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=9.223e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=6.208e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs587618842 3:50269329 A ENSG00000283848 ENST00000612981 Transcript upstream_gene_variant - - - - - rs587618842,COSV60352151 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=3907;STRAND=1;SYMBOL=MIR6872;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:50037;AF=0.0004;AFR_AF=0.0015;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=9.223e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=6.208e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs587618842 3:50269329 A ENSG00000012171 ENST00000616701 Transcript missense_variant 183 89 30 R/H cGc/cAc rs587618842,COSV60352151 IND=P2;ZYG=HET;IMPACT=MODERATE;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;SIFT=deleterious(0);PolyPhen=possibly_damaging(0.838);AF=0.0004;AFR_AF=0.0015;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=9.223e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=6.208e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs587618842 3:50269329 A ENSG00000012171 ENST00000618865 Transcript missense_variant 331 89 30 R/H cGc/cAc rs587618842,COSV60352151 IND=P2;ZYG=HET;IMPACT=MODERATE;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;SIFT=deleterious(0);PolyPhen=possibly_damaging(0.838);AF=0.0004;AFR_AF=0.0015;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=9.223e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=6.208e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs587618842 3:50269329 A ENSG00000012171 ENST00000619119 Transcript non_coding_transcript_exon_variant 456 - - - - rs587618842,COSV60352151 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0004;AFR_AF=0.0015;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=9.223e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=6.208e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs587618842 3:50269329 A ENSG00000012171 ENST00000621029 Transcript missense_variant 381 89 30 R/H cGc/cAc rs587618842,COSV60352151 IND=P2;ZYG=HET;IMPACT=MODERATE;STRAND=1;FLAGS=cds_end_NF;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;SIFT=deleterious(0);PolyPhen=possibly_damaging(0.838);AF=0.0004;AFR_AF=0.0015;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=9.223e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=6.208e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs587618842 3:50269329 A ENSG00000232352 ENST00000686401 Transcript upstream_gene_variant - - - - - rs587618842,COSV60352151 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1796;STRAND=-1;SYMBOL=SEMA3B-AS1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:49096;AF=0.0004;AFR_AF=0.0015;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=9.223e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=6.208e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs587618273 3:50270058 A ENSG00000012171 ENST00000416295 Transcript upstream_gene_variant - - - - - rs587618273 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=4576;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs587618273 3:50270058 A ENSG00000012171 ENST00000418576 Transcript upstream_gene_variant - - - - - rs587618273 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=3102;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs587618273 3:50270058 A ENSG00000012171 ENST00000419007 Transcript upstream_gene_variant - - - - - rs587618273 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=3288;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs587618273 3:50270058 A ENSG00000232352 ENST00000421735 Transcript upstream_gene_variant - - - - - rs587618273 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=2517;STRAND=-1;SYMBOL=SEMA3B-AS1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:49096;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs587618273 3:50270058 A ENSG00000012171 ENST00000433753 Transcript intron_variant - - - - - rs587618273 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs587618273 3:50270058 A ENSG00000012171 ENST00000434030 Transcript upstream_gene_variant - - - - - rs587618273 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=3094;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs587618273 3:50270058 A ENSG00000012171 ENST00000439487 Transcript upstream_gene_variant - - - - - rs587618273 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=3072;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs587618273 3:50270058 A ENSG00000012171 ENST00000441915 Transcript upstream_gene_variant - - - - - rs587618273 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=503;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs587618273 3:50270058 A ENSG00000012171 ENST00000456210 Transcript upstream_gene_variant - - - - - rs587618273 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=3099;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs587618273 3:50270058 A ENSG00000012171 ENST00000456560 Transcript upstream_gene_variant - - - - - rs587618273 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=3061;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs587618273 3:50270058 A ENSG00000012171 ENST00000611067 Transcript intron_variant - - - - - rs587618273 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs587618273 3:50270058 A ENSG00000012171 ENST00000612509 Transcript intron_variant,non_coding_transcript_variant - - - - - rs587618273 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs587618273 3:50270058 A ENSG00000283848 ENST00000612981 Transcript upstream_gene_variant - - - - - rs587618273 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=3178;STRAND=1;SYMBOL=MIR6872;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:50037;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs587618273 3:50270058 A ENSG00000012171 ENST00000616701 Transcript intron_variant - - - - - rs587618273 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs587618273 3:50270058 A ENSG00000012171 ENST00000618865 Transcript intron_variant - - - - - rs587618273 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs587618273 3:50270058 A ENSG00000012171 ENST00000619119 Transcript intron_variant,non_coding_transcript_variant - - - - - rs587618273 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs587618273 3:50270058 A ENSG00000012171 ENST00000621029 Transcript intron_variant - - - - - rs587618273 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_end_NF;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs587618273 3:50270058 A ENSG00000232352 ENST00000686401 Transcript upstream_gene_variant - - - - - rs587618273 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=2525;STRAND=-1;SYMBOL=SEMA3B-AS1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:49096;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs185948567 3:50271220 G ENSG00000012171 ENST00000416295 Transcript upstream_gene_variant - - - - - rs185948567 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=3414;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=1.297e-05;gnomAD_AFR_AF=0.000251;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs185948567 3:50271220 G ENSG00000012171 ENST00000418576 Transcript upstream_gene_variant - - - - - rs185948567 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1940;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=1.297e-05;gnomAD_AFR_AF=0.000251;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs185948567 3:50271220 G ENSG00000012171 ENST00000419007 Transcript upstream_gene_variant - - - - - rs185948567 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2126;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=1.297e-05;gnomAD_AFR_AF=0.000251;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs185948567 3:50271220 G ENSG00000232352 ENST00000421735 Transcript upstream_gene_variant - - - - - rs185948567 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=3679;STRAND=-1;SYMBOL=SEMA3B-AS1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:49096;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=1.297e-05;gnomAD_AFR_AF=0.000251;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs185948567 3:50271220 G ENSG00000012171 ENST00000433753 Transcript intron_variant - - - - - rs185948567 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=1.297e-05;gnomAD_AFR_AF=0.000251;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs185948567 3:50271220 G ENSG00000012171 ENST00000434030 Transcript upstream_gene_variant - - - - - rs185948567 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1932;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=1.297e-05;gnomAD_AFR_AF=0.000251;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs185948567 3:50271220 G ENSG00000012171 ENST00000439487 Transcript upstream_gene_variant - - - - - rs185948567 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1910;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=1.297e-05;gnomAD_AFR_AF=0.000251;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs185948567 3:50271220 G ENSG00000012171 ENST00000441915 Transcript intron_variant,non_coding_transcript_variant - - - - - rs185948567 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=1.297e-05;gnomAD_AFR_AF=0.000251;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs185948567 3:50271220 G ENSG00000012171 ENST00000456210 Transcript upstream_gene_variant - - - - - rs185948567 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1937;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=1.297e-05;gnomAD_AFR_AF=0.000251;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs185948567 3:50271220 G ENSG00000012171 ENST00000456560 Transcript upstream_gene_variant - - - - - rs185948567 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1899;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=1.297e-05;gnomAD_AFR_AF=0.000251;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs185948567 3:50271220 G ENSG00000012171 ENST00000611067 Transcript intron_variant - - - - - rs185948567 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=1.297e-05;gnomAD_AFR_AF=0.000251;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs185948567 3:50271220 G ENSG00000012171 ENST00000612509 Transcript intron_variant,non_coding_transcript_variant - - - - - rs185948567 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=1.297e-05;gnomAD_AFR_AF=0.000251;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs185948567 3:50271220 G ENSG00000283848 ENST00000612981 Transcript upstream_gene_variant - - - - - rs185948567 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2016;STRAND=1;SYMBOL=MIR6872;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:50037;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=1.297e-05;gnomAD_AFR_AF=0.000251;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs185948567 3:50271220 G ENSG00000012171 ENST00000616701 Transcript intron_variant - - - - - rs185948567 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=1.297e-05;gnomAD_AFR_AF=0.000251;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs185948567 3:50271220 G ENSG00000012171 ENST00000618865 Transcript intron_variant - - - - - rs185948567 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=1.297e-05;gnomAD_AFR_AF=0.000251;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs185948567 3:50271220 G ENSG00000012171 ENST00000619119 Transcript intron_variant,non_coding_transcript_variant - - - - - rs185948567 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=1.297e-05;gnomAD_AFR_AF=0.000251;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs185948567 3:50271220 G ENSG00000012171 ENST00000621029 Transcript intron_variant - - - - - rs185948567 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_end_NF;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=1.297e-05;gnomAD_AFR_AF=0.000251;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs185948567 3:50271220 G ENSG00000232352 ENST00000686401 Transcript upstream_gene_variant - - - - - rs185948567 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=3687;STRAND=-1;SYMBOL=SEMA3B-AS1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:49096;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=1.297e-05;gnomAD_AFR_AF=0.000251;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs191021982 3:50271232 T ENSG00000012171 ENST00000416295 Transcript upstream_gene_variant - - - - - rs191021982 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=3402;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0026;AFR_AF=0.0076;AMR_AF=0.0043;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs191021982 3:50271232 T ENSG00000012171 ENST00000418576 Transcript upstream_gene_variant - - - - - rs191021982 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1928;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0026;AFR_AF=0.0076;AMR_AF=0.0043;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs191021982 3:50271232 T ENSG00000012171 ENST00000419007 Transcript upstream_gene_variant - - - - - rs191021982 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2114;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0026;AFR_AF=0.0076;AMR_AF=0.0043;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs191021982 3:50271232 T ENSG00000232352 ENST00000421735 Transcript upstream_gene_variant - - - - - rs191021982 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=3691;STRAND=-1;SYMBOL=SEMA3B-AS1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:49096;AF=0.0026;AFR_AF=0.0076;AMR_AF=0.0043;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs191021982 3:50271232 T ENSG00000012171 ENST00000433753 Transcript intron_variant - - - - - rs191021982 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0026;AFR_AF=0.0076;AMR_AF=0.0043;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs191021982 3:50271232 T ENSG00000012171 ENST00000434030 Transcript upstream_gene_variant - - - - - rs191021982 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1920;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0026;AFR_AF=0.0076;AMR_AF=0.0043;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs191021982 3:50271232 T ENSG00000012171 ENST00000439487 Transcript upstream_gene_variant - - - - - rs191021982 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1898;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0026;AFR_AF=0.0076;AMR_AF=0.0043;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs191021982 3:50271232 T ENSG00000012171 ENST00000441915 Transcript intron_variant,non_coding_transcript_variant - - - - - rs191021982 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0026;AFR_AF=0.0076;AMR_AF=0.0043;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs191021982 3:50271232 T ENSG00000012171 ENST00000456210 Transcript upstream_gene_variant - - - - - rs191021982 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1925;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0026;AFR_AF=0.0076;AMR_AF=0.0043;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs191021982 3:50271232 T ENSG00000012171 ENST00000456560 Transcript upstream_gene_variant - - - - - rs191021982 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1887;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0026;AFR_AF=0.0076;AMR_AF=0.0043;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs191021982 3:50271232 T ENSG00000012171 ENST00000611067 Transcript intron_variant - - - - - rs191021982 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0026;AFR_AF=0.0076;AMR_AF=0.0043;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs191021982 3:50271232 T ENSG00000012171 ENST00000612509 Transcript intron_variant,non_coding_transcript_variant - - - - - rs191021982 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0026;AFR_AF=0.0076;AMR_AF=0.0043;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs191021982 3:50271232 T ENSG00000283848 ENST00000612981 Transcript upstream_gene_variant - - - - - rs191021982 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2004;STRAND=1;SYMBOL=MIR6872;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:50037;AF=0.0026;AFR_AF=0.0076;AMR_AF=0.0043;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs191021982 3:50271232 T ENSG00000012171 ENST00000616701 Transcript intron_variant - - - - - rs191021982 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0026;AFR_AF=0.0076;AMR_AF=0.0043;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs191021982 3:50271232 T ENSG00000012171 ENST00000618865 Transcript intron_variant - - - - - rs191021982 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0026;AFR_AF=0.0076;AMR_AF=0.0043;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs191021982 3:50271232 T ENSG00000012171 ENST00000619119 Transcript intron_variant,non_coding_transcript_variant - - - - - rs191021982 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0026;AFR_AF=0.0076;AMR_AF=0.0043;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs191021982 3:50271232 T ENSG00000012171 ENST00000621029 Transcript intron_variant - - - - - rs191021982 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_end_NF;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0026;AFR_AF=0.0076;AMR_AF=0.0043;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs191021982 3:50271232 T ENSG00000232352 ENST00000686401 Transcript upstream_gene_variant - - - - - rs191021982 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=3699;STRAND=-1;SYMBOL=SEMA3B-AS1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:49096;AF=0.0026;AFR_AF=0.0076;AMR_AF=0.0043;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs587746689 3:50271619 T ENSG00000012171 ENST00000416295 Transcript upstream_gene_variant - - - - - rs587746689 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=3015;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0004;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.002 rs587746689 3:50271619 T ENSG00000012171 ENST00000418576 Transcript upstream_gene_variant - - - - - rs587746689 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1541;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0004;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.002 rs587746689 3:50271619 T ENSG00000012171 ENST00000419007 Transcript upstream_gene_variant - - - - - rs587746689 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1727;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0004;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.002 rs587746689 3:50271619 T ENSG00000232352 ENST00000421735 Transcript upstream_gene_variant - - - - - rs587746689 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=4078;STRAND=-1;SYMBOL=SEMA3B-AS1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:49096;AF=0.0004;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.002 rs587746689 3:50271619 T ENSG00000012171 ENST00000433753 Transcript intron_variant - - - - - rs587746689 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0004;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.002 rs587746689 3:50271619 T ENSG00000012171 ENST00000434030 Transcript upstream_gene_variant - - - - - rs587746689 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1533;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0004;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.002 rs587746689 3:50271619 T ENSG00000012171 ENST00000439487 Transcript upstream_gene_variant - - - - - rs587746689 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1511;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0004;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.002 rs587746689 3:50271619 T ENSG00000012171 ENST00000441915 Transcript intron_variant,non_coding_transcript_variant - - - - - rs587746689 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0004;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.002 rs587746689 3:50271619 T ENSG00000012171 ENST00000456210 Transcript upstream_gene_variant - - - - - rs587746689 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1538;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0004;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.002 rs587746689 3:50271619 T ENSG00000012171 ENST00000456560 Transcript upstream_gene_variant - - - - - rs587746689 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1500;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0004;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.002 rs587746689 3:50271619 T ENSG00000012171 ENST00000611067 Transcript intron_variant - - - - - rs587746689 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0004;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.002 rs587746689 3:50271619 T ENSG00000012171 ENST00000612509 Transcript intron_variant,non_coding_transcript_variant - - - - - rs587746689 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0004;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.002 rs587746689 3:50271619 T ENSG00000283848 ENST00000612981 Transcript upstream_gene_variant - - - - - rs587746689 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1617;STRAND=1;SYMBOL=MIR6872;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:50037;AF=0.0004;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.002 rs587746689 3:50271619 T ENSG00000012171 ENST00000616701 Transcript intron_variant - - - - - rs587746689 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0004;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.002 rs587746689 3:50271619 T ENSG00000012171 ENST00000618865 Transcript intron_variant - - - - - rs587746689 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0004;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.002 rs587746689 3:50271619 T ENSG00000012171 ENST00000619119 Transcript intron_variant,non_coding_transcript_variant - - - - - rs587746689 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0004;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.002 rs587746689 3:50271619 T ENSG00000012171 ENST00000621029 Transcript downstream_gene_variant - - - - - rs587746689 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=161;STRAND=1;FLAGS=cds_end_NF;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0004;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.002 rs587746689 3:50271619 T ENSG00000232352 ENST00000686401 Transcript upstream_gene_variant - - - - - rs587746689 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=4086;STRAND=-1;SYMBOL=SEMA3B-AS1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:49096;AF=0.0004;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.002 rs138213870 3:50272132 A ENSG00000012171 ENST00000416295 Transcript upstream_gene_variant - - - - - rs138213870 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=2502;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0050;AFR_AF=0.0159;AMR_AF=0.0058;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs138213870 3:50272132 A ENSG00000012171 ENST00000418576 Transcript upstream_gene_variant - - - - - rs138213870 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=1028;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0050;AFR_AF=0.0159;AMR_AF=0.0058;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs138213870 3:50272132 A ENSG00000012171 ENST00000419007 Transcript upstream_gene_variant - - - - - rs138213870 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=1214;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0050;AFR_AF=0.0159;AMR_AF=0.0058;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs138213870 3:50272132 A ENSG00000232352 ENST00000421735 Transcript upstream_gene_variant - - - - - rs138213870 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=4591;STRAND=-1;SYMBOL=SEMA3B-AS1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:49096;AF=0.0050;AFR_AF=0.0159;AMR_AF=0.0058;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs138213870 3:50272132 A ENSG00000012171 ENST00000433753 Transcript intron_variant - - - - - rs138213870 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0050;AFR_AF=0.0159;AMR_AF=0.0058;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs138213870 3:50272132 A ENSG00000012171 ENST00000434030 Transcript upstream_gene_variant - - - - - rs138213870 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=1020;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0050;AFR_AF=0.0159;AMR_AF=0.0058;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs138213870 3:50272132 A ENSG00000012171 ENST00000439487 Transcript upstream_gene_variant - - - - - rs138213870 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=998;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0050;AFR_AF=0.0159;AMR_AF=0.0058;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs138213870 3:50272132 A ENSG00000012171 ENST00000441915 Transcript intron_variant,non_coding_transcript_variant - - - - - rs138213870 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0050;AFR_AF=0.0159;AMR_AF=0.0058;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs138213870 3:50272132 A ENSG00000012171 ENST00000456210 Transcript upstream_gene_variant - - - - - rs138213870 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=1025;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0050;AFR_AF=0.0159;AMR_AF=0.0058;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs138213870 3:50272132 A ENSG00000012171 ENST00000456560 Transcript upstream_gene_variant - - - - - rs138213870 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=987;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0050;AFR_AF=0.0159;AMR_AF=0.0058;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs138213870 3:50272132 A ENSG00000012171 ENST00000611067 Transcript intron_variant - - - - - rs138213870 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0050;AFR_AF=0.0159;AMR_AF=0.0058;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs138213870 3:50272132 A ENSG00000012171 ENST00000612509 Transcript intron_variant,non_coding_transcript_variant - - - - - rs138213870 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0050;AFR_AF=0.0159;AMR_AF=0.0058;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs138213870 3:50272132 A ENSG00000283848 ENST00000612981 Transcript upstream_gene_variant - - - - - rs138213870 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=1104;STRAND=1;SYMBOL=MIR6872;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:50037;AF=0.0050;AFR_AF=0.0159;AMR_AF=0.0058;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs138213870 3:50272132 A ENSG00000012171 ENST00000616701 Transcript intron_variant - - - - - rs138213870 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0050;AFR_AF=0.0159;AMR_AF=0.0058;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs138213870 3:50272132 A ENSG00000012171 ENST00000618865 Transcript intron_variant - - - - - rs138213870 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0050;AFR_AF=0.0159;AMR_AF=0.0058;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs138213870 3:50272132 A ENSG00000012171 ENST00000619119 Transcript intron_variant,non_coding_transcript_variant - - - - - rs138213870 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0050;AFR_AF=0.0159;AMR_AF=0.0058;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs138213870 3:50272132 A ENSG00000012171 ENST00000621029 Transcript downstream_gene_variant - - - - - rs138213870 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=674;STRAND=1;FLAGS=cds_end_NF;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0050;AFR_AF=0.0159;AMR_AF=0.0058;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs138213870 3:50272132 A ENSG00000232352 ENST00000686401 Transcript upstream_gene_variant - - - - - rs138213870 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=4599;STRAND=-1;SYMBOL=SEMA3B-AS1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:49096;AF=0.0050;AFR_AF=0.0159;AMR_AF=0.0058;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs587619566 3:50273234 A ENSG00000012171 ENST00000416295 Transcript upstream_gene_variant - - - - - rs587619566 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=1400;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0;gnomAD_AF=5.741e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=7.665e-05;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs587619566 3:50273234 A ENSG00000012171 ENST00000418576 Transcript 5_prime_UTR_variant 75 - - - - rs587619566 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0;gnomAD_AF=5.741e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=7.665e-05;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs587619566 3:50273234 A ENSG00000012171 ENST00000419007 Transcript upstream_gene_variant - - - - - rs587619566 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=112;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0;gnomAD_AF=5.741e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=7.665e-05;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs587619566 3:50273234 A ENSG00000012171 ENST00000433753 Transcript intron_variant - - - - - rs587619566 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0;gnomAD_AF=5.741e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=7.665e-05;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs587619566 3:50273234 A ENSG00000012171 ENST00000434030 Transcript non_coding_transcript_exon_variant 83 - - - - rs587619566 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0;gnomAD_AF=5.741e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=7.665e-05;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs587619566 3:50273234 A ENSG00000012171 ENST00000439487 Transcript non_coding_transcript_exon_variant 105 - - - - rs587619566 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0;gnomAD_AF=5.741e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=7.665e-05;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs587619566 3:50273234 A ENSG00000012171 ENST00000441915 Transcript intron_variant,non_coding_transcript_variant - - - - - rs587619566 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0;gnomAD_AF=5.741e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=7.665e-05;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs587619566 3:50273234 A ENSG00000012171 ENST00000456210 Transcript non_coding_transcript_exon_variant 78 - - - - rs587619566 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0;gnomAD_AF=5.741e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=7.665e-05;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs587619566 3:50273234 A ENSG00000012171 ENST00000456560 Transcript 5_prime_UTR_variant 116 - - - - rs587619566 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0;gnomAD_AF=5.741e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=7.665e-05;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs587619566 3:50273234 A ENSG00000012171 ENST00000611067 Transcript intron_variant - - - - - rs587619566 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0;gnomAD_AF=5.741e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=7.665e-05;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs587619566 3:50273234 A ENSG00000012171 ENST00000612509 Transcript intron_variant,non_coding_transcript_variant - - - - - rs587619566 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0;gnomAD_AF=5.741e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=7.665e-05;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs587619566 3:50273234 A ENSG00000283848 ENST00000612981 Transcript upstream_gene_variant - - - - - rs587619566 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=2;STRAND=1;SYMBOL=MIR6872;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:50037;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0;gnomAD_AF=5.741e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=7.665e-05;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs587619566 3:50273234 A ENSG00000012171 ENST00000616701 Transcript intron_variant - - - - - rs587619566 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0;gnomAD_AF=5.741e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=7.665e-05;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs587619566 3:50273234 A ENSG00000012171 ENST00000618865 Transcript intron_variant - - - - - rs587619566 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0;gnomAD_AF=5.741e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=7.665e-05;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs587619566 3:50273234 A ENSG00000012171 ENST00000619119 Transcript intron_variant,non_coding_transcript_variant - - - - - rs587619566 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0;gnomAD_AF=5.741e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=7.665e-05;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs587619566 3:50273234 A ENSG00000012171 ENST00000621029 Transcript downstream_gene_variant - - - - - rs587619566 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=1776;STRAND=1;FLAGS=cds_end_NF;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0;gnomAD_AF=5.741e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=7.665e-05;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs587684669 3:50274122 C ENSG00000179564 ENST00000316436 Transcript upstream_gene_variant - - - - - rs587684669 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=4965;STRAND=1;SYMBOL=LSMEM2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26781;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001 rs587684669 3:50274122 C ENSG00000012171 ENST00000416295 Transcript upstream_gene_variant - - - - - rs587684669 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=512;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001 rs587684669 3:50274122 C ENSG00000012171 ENST00000418576 Transcript intron_variant - - - - - rs587684669 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001 rs587684669 3:50274122 C ENSG00000012171 ENST00000419007 Transcript non_coding_transcript_exon_variant 693 - - - - rs587684669 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001 rs587684669 3:50274122 C ENSG00000012171 ENST00000433753 Transcript intron_variant - - - - - rs587684669 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001 rs587684669 3:50274122 C ENSG00000012171 ENST00000434030 Transcript non_coding_transcript_exon_variant 793 - - - - rs587684669 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001 rs587684669 3:50274122 C ENSG00000012171 ENST00000439487 Transcript intron_variant,non_coding_transcript_variant - - - - - rs587684669 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001 rs587684669 3:50274122 C ENSG00000012171 ENST00000441915 Transcript intron_variant,non_coding_transcript_variant - - - - - rs587684669 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001 rs587684669 3:50274122 C ENSG00000012171 ENST00000456210 Transcript intron_variant,non_coding_transcript_variant - - - - - rs587684669 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001 rs587684669 3:50274122 C ENSG00000012171 ENST00000456560 Transcript intron_variant - - - - - rs587684669 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001 rs587684669 3:50274122 C ENSG00000012171 ENST00000611067 Transcript intron_variant - - - - - rs587684669 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001 rs587684669 3:50274122 C ENSG00000012171 ENST00000612509 Transcript downstream_gene_variant - - - - - rs587684669 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=442;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001 rs587684669 3:50274122 C ENSG00000283848 ENST00000612981 Transcript downstream_gene_variant - - - - - rs587684669 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=825;STRAND=1;SYMBOL=MIR6872;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:50037;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001 rs587684669 3:50274122 C ENSG00000012171 ENST00000616701 Transcript intron_variant - - - - - rs587684669 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001 rs587684669 3:50274122 C ENSG00000012171 ENST00000618865 Transcript intron_variant - - - - - rs587684669 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001 rs587684669 3:50274122 C ENSG00000012171 ENST00000619119 Transcript intron_variant,non_coding_transcript_variant - - - - - rs587684669 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001 rs587684669 3:50274122 C ENSG00000012171 ENST00000621029 Transcript downstream_gene_variant - - - - - rs587684669 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2664;STRAND=1;FLAGS=cds_end_NF;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001 rs587736979 3:50275352 T ENSG00000179564 ENST00000316436 Transcript upstream_gene_variant - - - - - rs587736979 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=3735;STRAND=1;SYMBOL=LSMEM2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26781;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001;gnomAD_AF=5.161e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=3.805e-05 rs587736979 3:50275352 T ENSG00000012171 ENST00000416295 Transcript non_coding_transcript_exon_variant 642 - - - - rs587736979 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001;gnomAD_AF=5.161e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=3.805e-05 rs587736979 3:50275352 T ENSG00000012171 ENST00000418576 Transcript synonymous_variant 887 513 171 H caC/caT rs587736979 IND=P2;ZYG=HET;IMPACT=LOW;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001;gnomAD_AF=5.161e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=3.805e-05 rs587736979 3:50275352 T ENSG00000012171 ENST00000419007 Transcript non_coding_transcript_exon_variant 1663 - - - - rs587736979 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001;gnomAD_AF=5.161e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=3.805e-05 rs587736979 3:50275352 T ENSG00000012171 ENST00000433753 Transcript synonymous_variant 1611 1539 513 H caC/caT rs587736979 IND=P2;ZYG=HET;IMPACT=LOW;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001;gnomAD_AF=5.161e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=3.805e-05 rs587736979 3:50275352 T ENSG00000012171 ENST00000434030 Transcript downstream_gene_variant - - - - - rs587736979 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1012;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001;gnomAD_AF=5.161e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=3.805e-05 rs587736979 3:50275352 T ENSG00000012171 ENST00000439487 Transcript downstream_gene_variant - - - - - rs587736979 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=822;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001;gnomAD_AF=5.161e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=3.805e-05 rs587736979 3:50275352 T ENSG00000012171 ENST00000441915 Transcript non_coding_transcript_exon_variant 1538 - - - - rs587736979 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001;gnomAD_AF=5.161e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=3.805e-05 rs587736979 3:50275352 T ENSG00000012171 ENST00000456210 Transcript intron_variant,non_coding_transcript_variant - - - - - rs587736979 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001;gnomAD_AF=5.161e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=3.805e-05 rs587736979 3:50275352 T ENSG00000012171 ENST00000456560 Transcript synonymous_variant 1054 513 171 H caC/caT rs587736979 IND=P2;ZYG=HET;IMPACT=LOW;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001;gnomAD_AF=5.161e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=3.805e-05 rs587736979 3:50275352 T ENSG00000012171 ENST00000611067 Transcript synonymous_variant 1584 1557 519 H caC/caT rs587736979 IND=P2;ZYG=HET;IMPACT=LOW;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001;gnomAD_AF=5.161e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=3.805e-05 rs587736979 3:50275352 T ENSG00000012171 ENST00000612509 Transcript downstream_gene_variant - - - - - rs587736979 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1672;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001;gnomAD_AF=5.161e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=3.805e-05 rs587736979 3:50275352 T ENSG00000283848 ENST00000612981 Transcript downstream_gene_variant - - - - - rs587736979 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2055;STRAND=1;SYMBOL=MIR6872;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:50037;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001;gnomAD_AF=5.161e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=3.805e-05 rs587736979 3:50275352 T ENSG00000012171 ENST00000616701 Transcript synonymous_variant 1636 1542 514 H caC/caT rs587736979 IND=P2;ZYG=HET;IMPACT=LOW;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001;gnomAD_AF=5.161e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=3.805e-05 rs587736979 3:50275352 T ENSG00000012171 ENST00000618865 Transcript synonymous_variant 1784 1542 514 H caC/caT rs587736979 IND=P2;ZYG=HET;IMPACT=LOW;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001;gnomAD_AF=5.161e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=3.805e-05 rs587736979 3:50275352 T ENSG00000012171 ENST00000619119 Transcript non_coding_transcript_exon_variant 2017 - - - - rs587736979 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001;gnomAD_AF=5.161e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=3.805e-05 rs587736979 3:50275352 T ENSG00000012171 ENST00000621029 Transcript downstream_gene_variant - - - - - rs587736979 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=3894;STRAND=1;FLAGS=cds_end_NF;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001;gnomAD_AF=5.161e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=3.805e-05 rs587716162 3:50276238 C ENSG00000179564 ENST00000316436 Transcript upstream_gene_variant - - - - - rs587716162 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2849;STRAND=1;SYMBOL=LSMEM2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26781;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs587716162 3:50276238 C ENSG00000012171 ENST00000416295 Transcript intron_variant,non_coding_transcript_variant - - - - - rs587716162 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs587716162 3:50276238 C ENSG00000012171 ENST00000418576 Transcript intron_variant - - - - - rs587716162 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs587716162 3:50276238 C ENSG00000012171 ENST00000419007 Transcript non_coding_transcript_exon_variant 2360 - - - - rs587716162 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs587716162 3:50276238 C ENSG00000012171 ENST00000433753 Transcript intron_variant - - - - - rs587716162 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs587716162 3:50276238 C ENSG00000012171 ENST00000434030 Transcript downstream_gene_variant - - - - - rs587716162 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1898;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs587716162 3:50276238 C ENSG00000012171 ENST00000439487 Transcript downstream_gene_variant - - - - - rs587716162 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1708;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs587716162 3:50276238 C ENSG00000012171 ENST00000441915 Transcript intron_variant,non_coding_transcript_variant - - - - - rs587716162 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs587716162 3:50276238 C ENSG00000012171 ENST00000456210 Transcript intron_variant,non_coding_transcript_variant - - - - - rs587716162 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs587716162 3:50276238 C ENSG00000012171 ENST00000456560 Transcript intron_variant - - - - - rs587716162 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs587716162 3:50276238 C ENSG00000012171 ENST00000611067 Transcript intron_variant - - - - - rs587716162 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs587716162 3:50276238 C ENSG00000012171 ENST00000612509 Transcript downstream_gene_variant - - - - - rs587716162 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2558;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs587716162 3:50276238 C ENSG00000283848 ENST00000612981 Transcript downstream_gene_variant - - - - - rs587716162 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2941;STRAND=1;SYMBOL=MIR6872;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:50037;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs587716162 3:50276238 C ENSG00000012171 ENST00000616701 Transcript intron_variant - - - - - rs587716162 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs587716162 3:50276238 C ENSG00000012171 ENST00000618865 Transcript intron_variant - - - - - rs587716162 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs587716162 3:50276238 C ENSG00000012171 ENST00000619119 Transcript intron_variant,non_coding_transcript_variant - - - - - rs587716162 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs587716162 3:50276238 C ENSG00000012171 ENST00000621029 Transcript downstream_gene_variant - - - - - rs587716162 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=4780;STRAND=1;FLAGS=cds_end_NF;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs587733290 3:50276331 A ENSG00000179564 ENST00000316436 Transcript upstream_gene_variant - - - - - rs587733290 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2756;STRAND=1;SYMBOL=LSMEM2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26781;AF=0.0004;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0.001;gnomAD_AF=0.000526;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0.003004 rs587733290 3:50276331 A ENSG00000012171 ENST00000416295 Transcript non_coding_transcript_exon_variant 975 - - - - rs587733290 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0004;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0.001;gnomAD_AF=0.000526;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0.003004 rs587733290 3:50276331 A ENSG00000012171 ENST00000418576 Transcript synonymous_variant 1220 846 282 T acC/acA rs587733290 IND=P1;ZYG=HET;IMPACT=LOW;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0004;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0.001;gnomAD_AF=0.000526;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0.003004 rs587733290 3:50276331 A ENSG00000012171 ENST00000419007 Transcript non_coding_transcript_exon_variant 2453 - - - - rs587733290 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0004;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0.001;gnomAD_AF=0.000526;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0.003004 rs587733290 3:50276331 A ENSG00000012171 ENST00000433753 Transcript synonymous_variant 1944 1872 624 T acC/acA rs587733290 IND=P1;ZYG=HET;IMPACT=LOW;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0004;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0.001;gnomAD_AF=0.000526;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0.003004 rs587733290 3:50276331 A ENSG00000012171 ENST00000434030 Transcript downstream_gene_variant - - - - - rs587733290 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1991;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0004;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0.001;gnomAD_AF=0.000526;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0.003004 rs587733290 3:50276331 A ENSG00000012171 ENST00000439487 Transcript downstream_gene_variant - - - - - rs587733290 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1801;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0004;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0.001;gnomAD_AF=0.000526;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0.003004 rs587733290 3:50276331 A ENSG00000012171 ENST00000441915 Transcript non_coding_transcript_exon_variant 1871 - - - - rs587733290 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0004;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0.001;gnomAD_AF=0.000526;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0.003004 rs587733290 3:50276331 A ENSG00000012171 ENST00000456210 Transcript non_coding_transcript_exon_variant 850 - - - - rs587733290 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0004;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0.001;gnomAD_AF=0.000526;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0.003004 rs587733290 3:50276331 A ENSG00000012171 ENST00000456560 Transcript synonymous_variant 1387 846 282 T acC/acA rs587733290 IND=P1;ZYG=HET;IMPACT=LOW;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0004;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0.001;gnomAD_AF=0.000526;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0.003004 rs587733290 3:50276331 A ENSG00000012171 ENST00000611067 Transcript synonymous_variant 1917 1890 630 T acC/acA rs587733290 IND=P1;ZYG=HET;IMPACT=LOW;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0004;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0.001;gnomAD_AF=0.000526;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0.003004 rs587733290 3:50276331 A ENSG00000012171 ENST00000612509 Transcript downstream_gene_variant - - - - - rs587733290 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2651;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0004;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0.001;gnomAD_AF=0.000526;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0.003004 rs587733290 3:50276331 A ENSG00000283848 ENST00000612981 Transcript downstream_gene_variant - - - - - rs587733290 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=3034;STRAND=1;SYMBOL=MIR6872;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:50037;AF=0.0004;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0.001;gnomAD_AF=0.000526;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0.003004 rs587733290 3:50276331 A ENSG00000012171 ENST00000616701 Transcript synonymous_variant 1969 1875 625 T acC/acA rs587733290 IND=P1;ZYG=HET;IMPACT=LOW;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0004;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0.001;gnomAD_AF=0.000526;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0.003004 rs587733290 3:50276331 A ENSG00000012171 ENST00000618865 Transcript synonymous_variant 2117 1875 625 T acC/acA rs587733290 IND=P1;ZYG=HET;IMPACT=LOW;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0004;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0.001;gnomAD_AF=0.000526;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0.003004 rs587733290 3:50276331 A ENSG00000012171 ENST00000619119 Transcript non_coding_transcript_exon_variant 2350 - - - - rs587733290 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0004;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0.001;gnomAD_AF=0.000526;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0.003004 rs587733290 3:50276331 A ENSG00000012171 ENST00000621029 Transcript downstream_gene_variant - - - - - rs587733290 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=4873;STRAND=1;FLAGS=cds_end_NF;SYMBOL=SEMA3B;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10724;AF=0.0004;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0.001;gnomAD_AF=0.000526;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0.003004 rs542445775 8:6439007 G ENSG00000147316 ENST00000344683 Transcript missense_variant 532 491 164 P/R cCc/cGc rs542445775,COSV60913394 IND=P3;ZYG=HET;IMPACT=MODERATE;STRAND=1;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;SIFT=deleterious(0);PolyPhen=probably_damaging(0.993);AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001;gnomAD_AF=2.007e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0.0001634;SOMATIC=0,1;PHENO=0,1;G2P_flag=biallelic_autosomal=HET rs542445775 8:6439007 G ENSG00000147316 ENST00000519480 Transcript missense_variant 567 491 164 P/R cCc/cGc rs542445775,COSV60913394 IND=P3;ZYG=HET;IMPACT=MODERATE;STRAND=1;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;SIFT=deleterious(0);PolyPhen=probably_damaging(0.974);AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001;gnomAD_AF=2.007e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0.0001634;SOMATIC=0,1;PHENO=0,1;G2P_flag=biallelic_autosomal=HET rs542445775 8:6439007 G ENSG00000147316 ENST00000522905 Transcript intron_variant - - - - - rs542445775,COSV60913394 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001;gnomAD_AF=2.007e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0.0001634;SOMATIC=0,1;PHENO=0,1 rs542445775 8:6439007 G ENSG00000147316 ENST00000685179 Transcript missense_variant 541 485 162 P/R cCc/cGc rs542445775,COSV60913394 IND=P3;ZYG=HET;IMPACT=MODERATE;STRAND=1;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;SIFT=deleterious(0);PolyPhen=probably_damaging(0.999);AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001;gnomAD_AF=2.007e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0.0001634;SOMATIC=0,1;PHENO=0,1;G2P_flag=biallelic_autosomal=HET rs542445775 8:6439007 G ENSG00000147316 ENST00000686750 Transcript missense_variant 534 491 164 P/R cCc/cGc rs542445775,COSV60913394 IND=P3;ZYG=HET;IMPACT=MODERATE;STRAND=1;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;SIFT=deleterious(0);PolyPhen=probably_damaging(0.979);AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001;gnomAD_AF=2.007e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0.0001634;SOMATIC=0,1;PHENO=0,1;G2P_flag=biallelic_autosomal=HET rs542445775 8:6439007 G ENSG00000147316 ENST00000687577 Transcript upstream_gene_variant - - - - - rs542445775,COSV60913394 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=919;STRAND=1;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001;gnomAD_AF=2.007e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0.0001634;SOMATIC=0,1;PHENO=0,1 rs542445775 8:6439007 G ENSG00000147316 ENST00000687720 Transcript 3_prime_UTR_variant,NMD_transcript_variant 622 - - - - rs542445775,COSV60913394 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001;gnomAD_AF=2.007e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0.0001634;SOMATIC=0,1;PHENO=0,1 rs542445775 8:6439007 G ENSG00000147316 ENST00000687874 Transcript non_coding_transcript_exon_variant 506 - - - - rs542445775,COSV60913394 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001;gnomAD_AF=2.007e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0.0001634;SOMATIC=0,1;PHENO=0,1 rs542445775 8:6439007 G ENSG00000147316 ENST00000688099 Transcript 3_prime_UTR_variant,NMD_transcript_variant 1153 - - - - rs542445775,COSV60913394 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001;gnomAD_AF=2.007e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0.0001634;SOMATIC=0,1;PHENO=0,1 rs542445775 8:6439007 G ENSG00000147316 ENST00000688101 Transcript upstream_gene_variant - - - - - rs542445775,COSV60913394 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=3060;STRAND=1;FLAGS=cds_start_NF;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001;gnomAD_AF=2.007e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0.0001634;SOMATIC=0,1;PHENO=0,1 rs542445775 8:6439007 G ENSG00000147316 ENST00000688388 Transcript missense_variant,NMD_transcript_variant 537 491 164 P/R cCc/cGc rs542445775,COSV60913394 IND=P3;ZYG=HET;IMPACT=MODERATE;STRAND=1;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;SIFT=deleterious(0);PolyPhen=probably_damaging(0.999);AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001;gnomAD_AF=2.007e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0.0001634;SOMATIC=0,1;PHENO=0,1;G2P_flag=biallelic_autosomal=HET rs542445775 8:6439007 G ENSG00000147316 ENST00000688452 Transcript 3_prime_UTR_variant,NMD_transcript_variant 425 - - - - rs542445775,COSV60913394 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001;gnomAD_AF=2.007e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0.0001634;SOMATIC=0,1;PHENO=0,1 rs542445775 8:6439007 G ENSG00000147316 ENST00000688912 Transcript non_coding_transcript_exon_variant 502 - - - - rs542445775,COSV60913394 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001;gnomAD_AF=2.007e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0.0001634;SOMATIC=0,1;PHENO=0,1 rs542445775 8:6439007 G ENSG00000147316 ENST00000689348 Transcript missense_variant 532 491 164 P/R cCc/cGc rs542445775,COSV60913394 IND=P3;ZYG=HET;IMPACT=MODERATE;STRAND=1;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;SIFT=deleterious(0);PolyPhen=probably_damaging(0.997);AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001;gnomAD_AF=2.007e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0.0001634;SOMATIC=0,1;PHENO=0,1;G2P_flag=biallelic_autosomal=HET rs542445775 8:6439007 G ENSG00000147316 ENST00000689633 Transcript missense_variant 512 491 164 P/R cCc/cGc rs542445775,COSV60913394 IND=P3;ZYG=HET;IMPACT=MODERATE;STRAND=1;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;SIFT=deleterious(0);PolyPhen=probably_damaging(0.999);AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001;gnomAD_AF=2.007e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0.0001634;SOMATIC=0,1;PHENO=0,1;G2P_flag=biallelic_autosomal=HET rs542445775 8:6439007 G ENSG00000147316 ENST00000689736 Transcript missense_variant 532 491 164 P/R cCc/cGc rs542445775,COSV60913394 IND=P3;ZYG=HET;IMPACT=MODERATE;STRAND=1;FLAGS=cds_end_NF;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;SIFT=deleterious(0);PolyPhen=probably_damaging(0.996);AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001;gnomAD_AF=2.007e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0.0001634;SOMATIC=0,1;PHENO=0,1;G2P_flag=biallelic_autosomal=HET rs542445775 8:6439007 G ENSG00000147316 ENST00000690159 Transcript 3_prime_UTR_variant,NMD_transcript_variant 1153 - - - - rs542445775,COSV60913394 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001;gnomAD_AF=2.007e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0.0001634;SOMATIC=0,1;PHENO=0,1 rs542445775 8:6439007 G ENSG00000147316 ENST00000690518 Transcript 3_prime_UTR_variant,NMD_transcript_variant 413 - - - - rs542445775,COSV60913394 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001;gnomAD_AF=2.007e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0.0001634;SOMATIC=0,1;PHENO=0,1 rs542445775 8:6439007 G ENSG00000147316 ENST00000690682 Transcript 3_prime_UTR_variant,NMD_transcript_variant 746 - - - - rs542445775,COSV60913394 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001;gnomAD_AF=2.007e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0.0001634;SOMATIC=0,1;PHENO=0,1 rs542445775 8:6439007 G ENSG00000147316 ENST00000690708 Transcript missense_variant 532 491 164 P/R cCc/cGc rs542445775,COSV60913394 IND=P3;ZYG=HET;IMPACT=MODERATE;STRAND=1;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;SIFT=deleterious(0);PolyPhen=probably_damaging(0.996);AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001;gnomAD_AF=2.007e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0.0001634;SOMATIC=0,1;PHENO=0,1;G2P_flag=biallelic_autosomal=HET rs542445775 8:6439007 G ENSG00000147316 ENST00000690826 Transcript missense_variant 563 491 164 P/R cCc/cGc rs542445775,COSV60913394 IND=P3;ZYG=HET;IMPACT=MODERATE;STRAND=1;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;SIFT=deleterious(0);PolyPhen=probably_damaging(0.999);AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001;gnomAD_AF=2.007e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0.0001634;SOMATIC=0,1;PHENO=0,1;G2P_flag=biallelic_autosomal=HET rs542445775 8:6439007 G ENSG00000147316 ENST00000691435 Transcript missense_variant 512 491 164 P/R cCc/cGc rs542445775,COSV60913394 IND=P3;ZYG=HET;IMPACT=MODERATE;STRAND=1;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;SIFT=deleterious(0);PolyPhen=probably_damaging(0.999);AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001;gnomAD_AF=2.007e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0.0001634;SOMATIC=0,1;PHENO=0,1;G2P_flag=biallelic_autosomal=HET rs542445775 8:6439007 G ENSG00000147316 ENST00000691655 Transcript 3_prime_UTR_variant,NMD_transcript_variant 662 - - - - rs542445775,COSV60913394 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001;gnomAD_AF=2.007e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0.0001634;SOMATIC=0,1;PHENO=0,1 rs542445775 8:6439007 G ENSG00000147316 ENST00000691738 Transcript non_coding_transcript_exon_variant 699 - - - - rs542445775,COSV60913394 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001;gnomAD_AF=2.007e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0.0001634;SOMATIC=0,1;PHENO=0,1 rs542445775 8:6439007 G ENSG00000147316 ENST00000692534 Transcript upstream_gene_variant - - - - - rs542445775,COSV60913394 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=3060;STRAND=1;FLAGS=cds_start_NF;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001;gnomAD_AF=2.007e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0.0001634;SOMATIC=0,1;PHENO=0,1 rs542445775 8:6439007 G ENSG00000147316 ENST00000692836 Transcript missense_variant 505 491 164 P/R cCc/cGc rs542445775,COSV60913394 IND=P3;ZYG=HET;IMPACT=MODERATE;STRAND=1;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;SIFT=deleterious(0);PolyPhen=probably_damaging(0.998);AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001;gnomAD_AF=2.007e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0.0001634;SOMATIC=0,1;PHENO=0,1;G2P_flag=biallelic_autosomal=HET rs542445775 8:6439007 G ENSG00000147316 ENST00000692938 Transcript missense_variant 550 491 164 P/R cCc/cGc rs542445775,COSV60913394 IND=P3;ZYG=HET;IMPACT=MODERATE;STRAND=1;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;SIFT=deleterious(0);PolyPhen=probably_damaging(0.997);AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001;gnomAD_AF=2.007e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0.0001634;SOMATIC=0,1;PHENO=0,1;G2P_flag=biallelic_autosomal=HET rs542445775 8:6439007 G ENSG00000147316 ENST00000693231 Transcript 3_prime_UTR_variant,NMD_transcript_variant 427 - - - - rs542445775,COSV60913394 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001;gnomAD_AF=2.007e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0.0001634;SOMATIC=0,1;PHENO=0,1 rs747765735 8:6444881 T ENSG00000147316 ENST00000344683 Transcript synonymous_variant 1200 1159 387 L Ctg/Ttg rs747765735 IND=P3;ZYG=HOM;IMPACT=LOW;STRAND=1;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;gnomAD_AF=2.407e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=2.897e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=2.654e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=6.536e-05 rs747765735 8:6444881 T ENSG00000147316 ENST00000519480 Transcript synonymous_variant 1235 1159 387 L Ctg/Ttg rs747765735 IND=P3;ZYG=HOM;IMPACT=LOW;STRAND=1;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;gnomAD_AF=2.407e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=2.897e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=2.654e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=6.536e-05 rs747765735 8:6444881 T ENSG00000147316 ENST00000522905 Transcript synonymous_variant 1040 1015 339 L Ctg/Ttg rs747765735 IND=P3;ZYG=HOM;IMPACT=LOW;STRAND=1;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;gnomAD_AF=2.407e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=2.897e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=2.654e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=6.536e-05 rs747765735 8:6444881 T ENSG00000147316 ENST00000685179 Transcript synonymous_variant 1209 1153 385 L Ctg/Ttg rs747765735 IND=P3;ZYG=HOM;IMPACT=LOW;STRAND=1;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;gnomAD_AF=2.407e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=2.897e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=2.654e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=6.536e-05 rs747765735 8:6444881 T ENSG00000147316 ENST00000686750 Transcript synonymous_variant 1112 1069 357 L Ctg/Ttg rs747765735 IND=P3;ZYG=HOM;IMPACT=LOW;STRAND=1;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;gnomAD_AF=2.407e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=2.897e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=2.654e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=6.536e-05 rs747765735 8:6444881 T ENSG00000147316 ENST00000687577 Transcript non_coding_transcript_exon_variant 2720 - - - - rs747765735 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;gnomAD_AF=2.407e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=2.897e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=2.654e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=6.536e-05 rs747765735 8:6444881 T ENSG00000147316 ENST00000687720 Transcript 3_prime_UTR_variant,NMD_transcript_variant 1290 - - - - rs747765735 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;gnomAD_AF=2.407e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=2.897e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=2.654e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=6.536e-05 rs747765735 8:6444881 T ENSG00000147316 ENST00000687874 Transcript intron_variant,non_coding_transcript_variant - - - - - rs747765735 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;gnomAD_AF=2.407e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=2.897e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=2.654e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=6.536e-05 rs747765735 8:6444881 T ENSG00000147316 ENST00000688099 Transcript 3_prime_UTR_variant,NMD_transcript_variant 1821 - - - - rs747765735 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;gnomAD_AF=2.407e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=2.897e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=2.654e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=6.536e-05 rs747765735 8:6444881 T ENSG00000147316 ENST00000688101 Transcript synonymous_variant,NMD_transcript_variant 579 580 194 L Ctg/Ttg rs747765735 IND=P3;ZYG=HOM;IMPACT=LOW;STRAND=1;FLAGS=cds_start_NF;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;gnomAD_AF=2.407e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=2.897e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=2.654e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=6.536e-05 rs747765735 8:6444881 T ENSG00000147316 ENST00000688388 Transcript synonymous_variant,NMD_transcript_variant 1205 1159 387 L Ctg/Ttg rs747765735 IND=P3;ZYG=HOM;IMPACT=LOW;STRAND=1;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;gnomAD_AF=2.407e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=2.897e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=2.654e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=6.536e-05 rs747765735 8:6444881 T ENSG00000147316 ENST00000688452 Transcript 3_prime_UTR_variant,NMD_transcript_variant 1093 - - - - rs747765735 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;gnomAD_AF=2.407e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=2.897e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=2.654e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=6.536e-05 rs747765735 8:6444881 T ENSG00000147316 ENST00000688658 Transcript upstream_gene_variant - - - - - rs747765735 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=2;STRAND=1;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;gnomAD_AF=2.407e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=2.897e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=2.654e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=6.536e-05 rs747765735 8:6444881 T ENSG00000147316 ENST00000688912 Transcript non_coding_transcript_exon_variant 1170 - - - - rs747765735 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;gnomAD_AF=2.407e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=2.897e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=2.654e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=6.536e-05 rs747765735 8:6444881 T ENSG00000147316 ENST00000689348 Transcript synonymous_variant 1200 1159 387 L Ctg/Ttg rs747765735 IND=P3;ZYG=HOM;IMPACT=LOW;STRAND=1;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;gnomAD_AF=2.407e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=2.897e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=2.654e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=6.536e-05 rs747765735 8:6444881 T ENSG00000147316 ENST00000689633 Transcript synonymous_variant 1180 1159 387 L Ctg/Ttg rs747765735 IND=P3;ZYG=HOM;IMPACT=LOW;STRAND=1;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;gnomAD_AF=2.407e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=2.897e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=2.654e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=6.536e-05 rs747765735 8:6444881 T ENSG00000147316 ENST00000689736 Transcript intron_variant - - - - - rs747765735 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_end_NF;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;gnomAD_AF=2.407e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=2.897e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=2.654e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=6.536e-05 rs747765735 8:6444881 T ENSG00000147316 ENST00000690159 Transcript 3_prime_UTR_variant,NMD_transcript_variant 1821 - - - - rs747765735 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;gnomAD_AF=2.407e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=2.897e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=2.654e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=6.536e-05 rs747765735 8:6444881 T ENSG00000147316 ENST00000690518 Transcript 3_prime_UTR_variant,NMD_transcript_variant 1081 - - - - rs747765735 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;gnomAD_AF=2.407e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=2.897e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=2.654e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=6.536e-05 rs747765735 8:6444881 T ENSG00000147316 ENST00000690682 Transcript 3_prime_UTR_variant,NMD_transcript_variant 1414 - - - - rs747765735 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;gnomAD_AF=2.407e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=2.897e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=2.654e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=6.536e-05 rs747765735 8:6444881 T ENSG00000147316 ENST00000690708 Transcript intron_variant - - - - - rs747765735 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;gnomAD_AF=2.407e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=2.897e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=2.654e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=6.536e-05 rs747765735 8:6444881 T ENSG00000147316 ENST00000690826 Transcript synonymous_variant 1231 1159 387 L Ctg/Ttg rs747765735 IND=P3;ZYG=HOM;IMPACT=LOW;STRAND=1;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;gnomAD_AF=2.407e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=2.897e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=2.654e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=6.536e-05 rs747765735 8:6444881 T ENSG00000147316 ENST00000691435 Transcript synonymous_variant 1180 1159 387 L Ctg/Ttg rs747765735 IND=P3;ZYG=HOM;IMPACT=LOW;STRAND=1;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;gnomAD_AF=2.407e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=2.897e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=2.654e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=6.536e-05 rs747765735 8:6444881 T ENSG00000147316 ENST00000691655 Transcript intron_variant,NMD_transcript_variant - - - - - rs747765735 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;gnomAD_AF=2.407e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=2.897e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=2.654e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=6.536e-05 rs747765735 8:6444881 T ENSG00000147316 ENST00000691738 Transcript non_coding_transcript_exon_variant 1367 - - - - rs747765735 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;gnomAD_AF=2.407e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=2.897e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=2.654e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=6.536e-05 rs747765735 8:6444881 T ENSG00000147316 ENST00000692534 Transcript intron_variant,NMD_transcript_variant - - - - - rs747765735 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_start_NF;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;gnomAD_AF=2.407e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=2.897e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=2.654e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=6.536e-05 rs747765735 8:6444881 T ENSG00000147316 ENST00000692836 Transcript synonymous_variant 1173 1159 387 L Ctg/Ttg rs747765735 IND=P3;ZYG=HOM;IMPACT=LOW;STRAND=1;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;gnomAD_AF=2.407e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=2.897e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=2.654e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=6.536e-05 rs747765735 8:6444881 T ENSG00000147316 ENST00000692938 Transcript synonymous_variant 1218 1159 387 L Ctg/Ttg rs747765735 IND=P3;ZYG=HOM;IMPACT=LOW;STRAND=1;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;gnomAD_AF=2.407e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=2.897e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=2.654e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=6.536e-05 rs747765735 8:6444881 T ENSG00000147316 ENST00000693231 Transcript 3_prime_UTR_variant,NMD_transcript_variant 1095 - - - - rs747765735 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;gnomAD_AF=2.407e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=2.897e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=2.654e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=6.536e-05 rs747765735 8:6444881 T ENSG00000147316 ENST00000693528 Transcript upstream_gene_variant - - - - - rs747765735 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=609;STRAND=1;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;gnomAD_AF=2.407e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=2.897e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=2.654e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=6.536e-05 rs764775348 8:6499947 C ENSG00000091879 ENST00000325203 Transcript 3_prime_UTR_variant 5120 - - - - rs764775348 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=ANGPT2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:485;gnomAD_AF=4.008e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=8.829e-06;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs764775348 8:6499947 C ENSG00000091879 ENST00000338312 Transcript downstream_gene_variant - - - - - rs764775348 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=3133;STRAND=-1;SYMBOL=ANGPT2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:485;gnomAD_AF=4.008e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=8.829e-06;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs764775348 8:6499947 C ENSG00000147316 ENST00000344683 Transcript intron_variant - - - - - rs764775348 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;gnomAD_AF=4.008e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=8.829e-06;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs764775348 8:6499947 C ENSG00000147316 ENST00000519221 Transcript intron_variant,non_coding_transcript_variant - - - - - rs764775348 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;gnomAD_AF=4.008e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=8.829e-06;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs764775348 8:6499947 C ENSG00000147316 ENST00000521129 Transcript intron_variant - - - - - rs764775348 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_end_NF;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;gnomAD_AF=4.008e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=8.829e-06;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs764775348 8:6499947 C ENSG00000147316 ENST00000521175 Transcript intron_variant,non_coding_transcript_variant - - - - - rs764775348 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;gnomAD_AF=4.008e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=8.829e-06;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs764775348 8:6499947 C ENSG00000091879 ENST00000629816 Transcript 3_prime_UTR_variant 4953 - - - - rs764775348 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=ANGPT2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:485;gnomAD_AF=4.008e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=8.829e-06;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs764775348 8:6499947 C ENSG00000147316 ENST00000687324 Transcript intron_variant,non_coding_transcript_variant - - - - - rs764775348 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;gnomAD_AF=4.008e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=8.829e-06;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs764775348 8:6499947 C ENSG00000147316 ENST00000687413 Transcript intron_variant - - - - - rs764775348 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_end_NF;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;gnomAD_AF=4.008e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=8.829e-06;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs764775348 8:6499947 C ENSG00000147316 ENST00000687720 Transcript intron_variant,NMD_transcript_variant - - - - - rs764775348 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;gnomAD_AF=4.008e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=8.829e-06;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs764775348 8:6499947 C ENSG00000147316 ENST00000688101 Transcript intron_variant,NMD_transcript_variant - - - - - rs764775348 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_start_NF;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;gnomAD_AF=4.008e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=8.829e-06;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs764775348 8:6499947 C ENSG00000147316 ENST00000688388 Transcript intron_variant,NMD_transcript_variant - - - - - rs764775348 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;gnomAD_AF=4.008e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=8.829e-06;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs764775348 8:6499947 C ENSG00000147316 ENST00000688912 Transcript non_coding_transcript_exon_variant 2243 - - - - rs764775348 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;gnomAD_AF=4.008e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=8.829e-06;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs764775348 8:6499947 C ENSG00000147316 ENST00000689148 Transcript intron_variant,non_coding_transcript_variant - - - - - rs764775348 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;gnomAD_AF=4.008e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=8.829e-06;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs764775348 8:6499947 C ENSG00000147316 ENST00000689348 Transcript intron_variant - - - - - rs764775348 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;gnomAD_AF=4.008e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=8.829e-06;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs764775348 8:6499947 C ENSG00000147316 ENST00000689633 Transcript intron_variant - - - - - rs764775348 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;gnomAD_AF=4.008e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=8.829e-06;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs764775348 8:6499947 C ENSG00000147316 ENST00000689736 Transcript intron_variant - - - - - rs764775348 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_end_NF;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;gnomAD_AF=4.008e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=8.829e-06;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs764775348 8:6499947 C ENSG00000147316 ENST00000690159 Transcript intron_variant,NMD_transcript_variant - - - - - rs764775348 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;gnomAD_AF=4.008e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=8.829e-06;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs764775348 8:6499947 C ENSG00000147316 ENST00000690708 Transcript intron_variant - - - - - rs764775348 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;gnomAD_AF=4.008e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=8.829e-06;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs764775348 8:6499947 C ENSG00000147316 ENST00000690826 Transcript intron_variant - - - - - rs764775348 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;gnomAD_AF=4.008e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=8.829e-06;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs764775348 8:6499947 C ENSG00000147316 ENST00000691435 Transcript intron_variant - - - - - rs764775348 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;gnomAD_AF=4.008e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=8.829e-06;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs764775348 8:6499947 C ENSG00000147316 ENST00000691655 Transcript 3_prime_UTR_variant,NMD_transcript_variant 1330 - - - - rs764775348 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;gnomAD_AF=4.008e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=8.829e-06;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs764775348 8:6499947 C ENSG00000147316 ENST00000692836 Transcript intron_variant - - - - - rs764775348 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;gnomAD_AF=4.008e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=8.829e-06;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs764775348 8:6499947 C ENSG00000147316 ENST00000692938 Transcript intron_variant - - - - - rs764775348 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;gnomAD_AF=4.008e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=8.829e-06;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs764775348 8:6499947 C ENSG00000147316 ENST00000693231 Transcript intron_variant,NMD_transcript_variant - - - - - rs764775348 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;gnomAD_AF=4.008e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=8.829e-06;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs752891870 8:6514799 C ENSG00000091879 ENST00000325203 Transcript intron_variant - - - - - rs752891870 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=ANGPT2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:485;gnomAD_AF=3.985e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=3.271e-05 rs752891870 8:6514799 C ENSG00000091879 ENST00000338312 Transcript intron_variant - - - - - rs752891870 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=ANGPT2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:485;gnomAD_AF=3.985e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=3.271e-05 rs752891870 8:6514799 C ENSG00000147316 ENST00000344683 Transcript intron_variant - - - - - rs752891870 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;gnomAD_AF=3.985e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=3.271e-05 rs752891870 8:6514799 C ENSG00000147316 ENST00000519221 Transcript intron_variant,non_coding_transcript_variant - - - - - rs752891870 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;gnomAD_AF=3.985e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=3.271e-05 rs752891870 8:6514799 C ENSG00000147316 ENST00000521129 Transcript intron_variant - - - - - rs752891870 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_end_NF;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;gnomAD_AF=3.985e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=3.271e-05 rs752891870 8:6514799 C ENSG00000147316 ENST00000521175 Transcript intron_variant,non_coding_transcript_variant - - - - - rs752891870 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;gnomAD_AF=3.985e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=3.271e-05 rs752891870 8:6514799 C ENSG00000091879 ENST00000523120 Transcript intron_variant - - - - - rs752891870 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=ANGPT2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:485;gnomAD_AF=3.985e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=3.271e-05 rs752891870 8:6514799 C ENSG00000091879 ENST00000629816 Transcript intron_variant - - - - - rs752891870 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=ANGPT2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:485;gnomAD_AF=3.985e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=3.271e-05 rs752891870 8:6514799 C ENSG00000147316 ENST00000687324 Transcript intron_variant,non_coding_transcript_variant - - - - - rs752891870 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;gnomAD_AF=3.985e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=3.271e-05 rs752891870 8:6514799 C ENSG00000147316 ENST00000687413 Transcript intron_variant - - - - - rs752891870 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_end_NF;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;gnomAD_AF=3.985e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=3.271e-05 rs752891870 8:6514799 C ENSG00000147316 ENST00000687720 Transcript intron_variant,NMD_transcript_variant - - - - - rs752891870 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;gnomAD_AF=3.985e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=3.271e-05 rs752891870 8:6514799 C ENSG00000147316 ENST00000688101 Transcript intron_variant,NMD_transcript_variant - - - - - rs752891870 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_start_NF;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;gnomAD_AF=3.985e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=3.271e-05 rs752891870 8:6514799 C ENSG00000147316 ENST00000688388 Transcript intron_variant,NMD_transcript_variant - - - - - rs752891870 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;gnomAD_AF=3.985e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=3.271e-05 rs752891870 8:6514799 C ENSG00000147316 ENST00000689148 Transcript intron_variant,non_coding_transcript_variant - - - - - rs752891870 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;gnomAD_AF=3.985e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=3.271e-05 rs752891870 8:6514799 C ENSG00000147316 ENST00000689348 Transcript intron_variant - - - - - rs752891870 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;gnomAD_AF=3.985e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=3.271e-05 rs752891870 8:6514799 C ENSG00000147316 ENST00000689633 Transcript intron_variant - - - - - rs752891870 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;gnomAD_AF=3.985e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=3.271e-05 rs752891870 8:6514799 C ENSG00000147316 ENST00000689736 Transcript intron_variant - - - - - rs752891870 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_end_NF;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;gnomAD_AF=3.985e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=3.271e-05 rs752891870 8:6514799 C ENSG00000147316 ENST00000690159 Transcript intron_variant,NMD_transcript_variant - - - - - rs752891870 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;gnomAD_AF=3.985e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=3.271e-05 rs752891870 8:6514799 C ENSG00000147316 ENST00000690708 Transcript intron_variant - - - - - rs752891870 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;gnomAD_AF=3.985e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=3.271e-05 rs752891870 8:6514799 C ENSG00000147316 ENST00000690826 Transcript intron_variant - - - - - rs752891870 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;gnomAD_AF=3.985e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=3.271e-05 rs752891870 8:6514799 C ENSG00000147316 ENST00000691435 Transcript intron_variant - - - - - rs752891870 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;gnomAD_AF=3.985e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=3.271e-05 rs752891870 8:6514799 C ENSG00000147316 ENST00000692836 Transcript intron_variant - - - - - rs752891870 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;gnomAD_AF=3.985e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=3.271e-05 rs752891870 8:6514799 C ENSG00000147316 ENST00000692938 Transcript intron_variant - - - - - rs752891870 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;gnomAD_AF=3.985e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=3.271e-05 rs752891870 8:6514799 C ENSG00000147316 ENST00000693231 Transcript intron_variant,NMD_transcript_variant - - - - - rs752891870 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;gnomAD_AF=3.985e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=3.271e-05 rs1382524848 8:6527537 G ENSG00000091879 ENST00000325203 Transcript intron_variant - - - - - rs1382524848,COSV100291146 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=ANGPT2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:485;gnomAD_AF=4.002e-06;gnomAD_AFR_AF=6.16e-05;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs1382524848 8:6527537 G ENSG00000091879 ENST00000338312 Transcript intron_variant - - - - - rs1382524848,COSV100291146 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=ANGPT2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:485;gnomAD_AF=4.002e-06;gnomAD_AFR_AF=6.16e-05;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs1382524848 8:6527537 G ENSG00000147316 ENST00000344683 Transcript intron_variant - - - - - rs1382524848,COSV100291146 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;gnomAD_AF=4.002e-06;gnomAD_AFR_AF=6.16e-05;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs1382524848 8:6527537 G ENSG00000147316 ENST00000519221 Transcript intron_variant,non_coding_transcript_variant - - - - - rs1382524848,COSV100291146 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;gnomAD_AF=4.002e-06;gnomAD_AFR_AF=6.16e-05;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs1382524848 8:6527537 G ENSG00000147316 ENST00000521129 Transcript intron_variant - - - - - rs1382524848,COSV100291146 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_end_NF;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;gnomAD_AF=4.002e-06;gnomAD_AFR_AF=6.16e-05;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs1382524848 8:6527537 G ENSG00000147316 ENST00000521175 Transcript intron_variant,non_coding_transcript_variant - - - - - rs1382524848,COSV100291146 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;gnomAD_AF=4.002e-06;gnomAD_AFR_AF=6.16e-05;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs1382524848 8:6527537 G ENSG00000091879 ENST00000523120 Transcript intron_variant - - - - - rs1382524848,COSV100291146 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=ANGPT2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:485;gnomAD_AF=4.002e-06;gnomAD_AFR_AF=6.16e-05;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs1382524848 8:6527537 G ENSG00000091879 ENST00000629816 Transcript intron_variant - - - - - rs1382524848,COSV100291146 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=ANGPT2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:485;gnomAD_AF=4.002e-06;gnomAD_AFR_AF=6.16e-05;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs1382524848 8:6527537 G ENSG00000147316 ENST00000687324 Transcript intron_variant,non_coding_transcript_variant - - - - - rs1382524848,COSV100291146 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;gnomAD_AF=4.002e-06;gnomAD_AFR_AF=6.16e-05;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs1382524848 8:6527537 G ENSG00000147316 ENST00000687413 Transcript intron_variant - - - - - rs1382524848,COSV100291146 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_end_NF;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;gnomAD_AF=4.002e-06;gnomAD_AFR_AF=6.16e-05;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs1382524848 8:6527537 G ENSG00000147316 ENST00000687720 Transcript intron_variant,NMD_transcript_variant - - - - - rs1382524848,COSV100291146 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;gnomAD_AF=4.002e-06;gnomAD_AFR_AF=6.16e-05;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs1382524848 8:6527537 G ENSG00000147316 ENST00000688101 Transcript intron_variant,NMD_transcript_variant - - - - - rs1382524848,COSV100291146 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_start_NF;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;gnomAD_AF=4.002e-06;gnomAD_AFR_AF=6.16e-05;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs1382524848 8:6527537 G ENSG00000147316 ENST00000688388 Transcript intron_variant,NMD_transcript_variant - - - - - rs1382524848,COSV100291146 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;gnomAD_AF=4.002e-06;gnomAD_AFR_AF=6.16e-05;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs1382524848 8:6527537 G ENSG00000147316 ENST00000689148 Transcript intron_variant,non_coding_transcript_variant - - - - - rs1382524848,COSV100291146 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;gnomAD_AF=4.002e-06;gnomAD_AFR_AF=6.16e-05;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs1382524848 8:6527537 G ENSG00000147316 ENST00000689348 Transcript intron_variant - - - - - rs1382524848,COSV100291146 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;gnomAD_AF=4.002e-06;gnomAD_AFR_AF=6.16e-05;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs1382524848 8:6527537 G ENSG00000147316 ENST00000689633 Transcript intron_variant - - - - - rs1382524848,COSV100291146 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;gnomAD_AF=4.002e-06;gnomAD_AFR_AF=6.16e-05;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs1382524848 8:6527537 G ENSG00000147316 ENST00000689736 Transcript intron_variant - - - - - rs1382524848,COSV100291146 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_end_NF;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;gnomAD_AF=4.002e-06;gnomAD_AFR_AF=6.16e-05;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs1382524848 8:6527537 G ENSG00000147316 ENST00000690159 Transcript intron_variant,NMD_transcript_variant - - - - - rs1382524848,COSV100291146 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;gnomAD_AF=4.002e-06;gnomAD_AFR_AF=6.16e-05;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs1382524848 8:6527537 G ENSG00000147316 ENST00000690708 Transcript intron_variant - - - - - rs1382524848,COSV100291146 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;gnomAD_AF=4.002e-06;gnomAD_AFR_AF=6.16e-05;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs1382524848 8:6527537 G ENSG00000147316 ENST00000690826 Transcript intron_variant - - - - - rs1382524848,COSV100291146 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;gnomAD_AF=4.002e-06;gnomAD_AFR_AF=6.16e-05;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs1382524848 8:6527537 G ENSG00000147316 ENST00000691435 Transcript intron_variant - - - - - rs1382524848,COSV100291146 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;gnomAD_AF=4.002e-06;gnomAD_AFR_AF=6.16e-05;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs1382524848 8:6527537 G ENSG00000147316 ENST00000692836 Transcript intron_variant - - - - - rs1382524848,COSV100291146 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;gnomAD_AF=4.002e-06;gnomAD_AFR_AF=6.16e-05;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs1382524848 8:6527537 G ENSG00000147316 ENST00000692938 Transcript intron_variant - - - - - rs1382524848,COSV100291146 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;gnomAD_AF=4.002e-06;gnomAD_AFR_AF=6.16e-05;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs1382524848 8:6527537 G ENSG00000147316 ENST00000693231 Transcript intron_variant,NMD_transcript_variant - - - - - rs1382524848,COSV100291146 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;gnomAD_AF=4.002e-06;gnomAD_AFR_AF=6.16e-05;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs753955316 8:6621423 A ENSG00000147316 ENST00000344683 Transcript intron_variant - - - - - rs753955316 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;gnomAD_AF=0;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs753955316 8:6621423 A ENSG00000249898 ENST00000515608 Transcript non_coding_transcript_exon_variant 898 - - - - rs753955316 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=MCPH1-AS1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:51655;gnomAD_AF=0;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs753955316 8:6621423 A ENSG00000147316 ENST00000519221 Transcript intron_variant,non_coding_transcript_variant - - - - - rs753955316 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;gnomAD_AF=0;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs753955316 8:6621423 A ENSG00000147316 ENST00000521129 Transcript intron_variant - - - - - rs753955316 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_end_NF;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;gnomAD_AF=0;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs753955316 8:6621423 A ENSG00000147316 ENST00000521175 Transcript intron_variant,non_coding_transcript_variant - - - - - rs753955316 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;gnomAD_AF=0;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs753955316 8:6621423 A ENSG00000249898 ENST00000522897 Transcript splice_region_variant,non_coding_transcript_exon_variant 433 - - - - rs753955316 IND=P3;ZYG=HET;IMPACT=LOW;STRAND=-1;SYMBOL=MCPH1-AS1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:51655;gnomAD_AF=0;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs753955316 8:6621423 A ENSG00000271743 ENST00000607368 Transcript upstream_gene_variant - - - - - rs753955316 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=4225;STRAND=-1;gnomAD_AF=0;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs753955316 8:6621423 A ENSG00000276580 ENST00000610739 Transcript downstream_gene_variant - - - - - rs753955316 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=701;STRAND=-1;SYMBOL=MIR8055;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:50241;gnomAD_AF=0;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs753955316 8:6621423 A ENSG00000249898 ENST00000655775 Transcript non_coding_transcript_exon_variant 449 - - - - rs753955316 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=MCPH1-AS1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:51655;gnomAD_AF=0;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs753955316 8:6621423 A ENSG00000249898 ENST00000659007 Transcript non_coding_transcript_exon_variant 1793 - - - - rs753955316 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=MCPH1-AS1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:51655;gnomAD_AF=0;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs753955316 8:6621423 A ENSG00000249898 ENST00000661193 Transcript intron_variant,non_coding_transcript_variant - - - - - rs753955316 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=MCPH1-AS1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:51655;gnomAD_AF=0;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs753955316 8:6621423 A ENSG00000249898 ENST00000662128 Transcript non_coding_transcript_exon_variant 429 - - - - rs753955316 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=MCPH1-AS1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:51655;gnomAD_AF=0;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs753955316 8:6621423 A ENSG00000249898 ENST00000662747 Transcript non_coding_transcript_exon_variant 1254 - - - - rs753955316 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=MCPH1-AS1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:51655;gnomAD_AF=0;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs753955316 8:6621423 A ENSG00000249898 ENST00000671468 Transcript non_coding_transcript_exon_variant 1793 - - - - rs753955316 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=MCPH1-AS1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:51655;gnomAD_AF=0;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs753955316 8:6621423 A ENSG00000147316 ENST00000686882 Transcript intron_variant,non_coding_transcript_variant - - - - - rs753955316 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;gnomAD_AF=0;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs753955316 8:6621423 A ENSG00000147316 ENST00000687324 Transcript intron_variant,non_coding_transcript_variant - - - - - rs753955316 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;gnomAD_AF=0;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs753955316 8:6621423 A ENSG00000147316 ENST00000687413 Transcript intron_variant - - - - - rs753955316 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_end_NF;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;gnomAD_AF=0;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs753955316 8:6621423 A ENSG00000147316 ENST00000687720 Transcript intron_variant,NMD_transcript_variant - - - - - rs753955316 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;gnomAD_AF=0;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs753955316 8:6621423 A ENSG00000147316 ENST00000688101 Transcript intron_variant,NMD_transcript_variant - - - - - rs753955316 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_start_NF;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;gnomAD_AF=0;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs753955316 8:6621423 A ENSG00000147316 ENST00000688388 Transcript intron_variant,NMD_transcript_variant - - - - - rs753955316 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;gnomAD_AF=0;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs753955316 8:6621423 A ENSG00000147316 ENST00000689148 Transcript intron_variant,non_coding_transcript_variant - - - - - rs753955316 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;gnomAD_AF=0;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs753955316 8:6621423 A ENSG00000147316 ENST00000689348 Transcript intron_variant - - - - - rs753955316 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;gnomAD_AF=0;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs753955316 8:6621423 A ENSG00000147316 ENST00000689633 Transcript intron_variant - - - - - rs753955316 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;gnomAD_AF=0;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs753955316 8:6621423 A ENSG00000147316 ENST00000689736 Transcript intron_variant - - - - - rs753955316 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_end_NF;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;gnomAD_AF=0;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs753955316 8:6621423 A ENSG00000147316 ENST00000690159 Transcript intron_variant,NMD_transcript_variant - - - - - rs753955316 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;gnomAD_AF=0;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs753955316 8:6621423 A ENSG00000147316 ENST00000690708 Transcript intron_variant - - - - - rs753955316 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;gnomAD_AF=0;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs753955316 8:6621423 A ENSG00000147316 ENST00000690826 Transcript intron_variant - - - - - rs753955316 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;gnomAD_AF=0;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs753955316 8:6621423 A ENSG00000147316 ENST00000692836 Transcript intron_variant - - - - - rs753955316 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;gnomAD_AF=0;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs753955316 8:6621423 A ENSG00000147316 ENST00000692938 Transcript intron_variant - - - - - rs753955316 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;gnomAD_AF=0;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs753955316 8:6621423 A ENSG00000147316 ENST00000693231 Transcript intron_variant,NMD_transcript_variant - - - - - rs753955316 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=MCPH1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6954;gnomAD_AF=0;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs561728430 8:98025298 A ENSG00000132561 ENST00000254898 Transcript intron_variant - - - - - rs561728430 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0034;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.0174 rs561728430 8:98025298 A ENSG00000132561 ENST00000517321 Transcript intron_variant - - - - - rs561728430 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_start_NF,cds_end_NF;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0034;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.0174 rs561728430 8:98025298 A ENSG00000132561 ENST00000518154 Transcript intron_variant - - - - - rs561728430 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_start_NF;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0034;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.0174 rs561728430 8:98025298 A ENSG00000156482 ENST00000518164 Transcript non_coding_transcript_exon_variant 681 - - - - rs561728430 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=RPL30;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10333;AF=0.0034;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.0174 rs561728430 8:98025298 A ENSG00000132561 ENST00000518370 Transcript intron_variant,non_coding_transcript_variant - - - - - rs561728430 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0034;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.0174 rs561728430 8:98025298 A ENSG00000132561 ENST00000519582 Transcript upstream_gene_variant - - - - - rs561728430 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2409;STRAND=1;FLAGS=cds_start_NF;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0034;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.0174 rs561728430 8:98025298 A ENSG00000132561 ENST00000520016 Transcript intron_variant - - - - - rs561728430 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0034;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.0174 rs561728430 8:98025298 A ENSG00000132561 ENST00000521689 Transcript intron_variant - - - - - rs561728430 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0034;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.0174 rs561728430 8:98025298 A ENSG00000132561 ENST00000521952 Transcript intron_variant,NMD_transcript_variant - - - - - rs561728430 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_start_NF;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0034;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.0174 rs561728430 8:98025298 A ENSG00000132561 ENST00000522025 Transcript intron_variant - - - - - rs561728430 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0034;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.0174 rs561728430 8:98025298 A ENSG00000132561 ENST00000524308 Transcript intron_variant - - - - - rs561728430 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0034;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.0174 rs7843262 8:98026273 A ENSG00000132561 ENST00000254898 Transcript intron_variant - - - - - rs7843262 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.1224;AFR_AF=0.0272;AMR_AF=0.2406;EAS_AF=0.1319;EUR_AF=0.0924;SAS_AF=0.1881 rs7843262 8:98026273 A ENSG00000132561 ENST00000517321 Transcript intron_variant - - - - - rs7843262 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_start_NF,cds_end_NF;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.1224;AFR_AF=0.0272;AMR_AF=0.2406;EAS_AF=0.1319;EUR_AF=0.0924;SAS_AF=0.1881 rs7843262 8:98026273 A ENSG00000132561 ENST00000518154 Transcript intron_variant - - - - - rs7843262 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_start_NF;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.1224;AFR_AF=0.0272;AMR_AF=0.2406;EAS_AF=0.1319;EUR_AF=0.0924;SAS_AF=0.1881 rs7843262 8:98026273 A ENSG00000156482 ENST00000518164 Transcript intron_variant,non_coding_transcript_variant - - - - - rs7843262 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=RPL30;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10333;AF=0.1224;AFR_AF=0.0272;AMR_AF=0.2406;EAS_AF=0.1319;EUR_AF=0.0924;SAS_AF=0.1881 rs7843262 8:98026273 A ENSG00000132561 ENST00000518370 Transcript intron_variant,non_coding_transcript_variant - - - - - rs7843262 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.1224;AFR_AF=0.0272;AMR_AF=0.2406;EAS_AF=0.1319;EUR_AF=0.0924;SAS_AF=0.1881 rs7843262 8:98026273 A ENSG00000132561 ENST00000519582 Transcript upstream_gene_variant - - - - - rs7843262 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=1434;STRAND=1;FLAGS=cds_start_NF;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.1224;AFR_AF=0.0272;AMR_AF=0.2406;EAS_AF=0.1319;EUR_AF=0.0924;SAS_AF=0.1881 rs7843262 8:98026273 A ENSG00000132561 ENST00000520016 Transcript intron_variant - - - - - rs7843262 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.1224;AFR_AF=0.0272;AMR_AF=0.2406;EAS_AF=0.1319;EUR_AF=0.0924;SAS_AF=0.1881 rs7843262 8:98026273 A ENSG00000132561 ENST00000521689 Transcript intron_variant - - - - - rs7843262 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.1224;AFR_AF=0.0272;AMR_AF=0.2406;EAS_AF=0.1319;EUR_AF=0.0924;SAS_AF=0.1881 rs7843262 8:98026273 A ENSG00000132561 ENST00000521952 Transcript intron_variant,NMD_transcript_variant - - - - - rs7843262 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_start_NF;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.1224;AFR_AF=0.0272;AMR_AF=0.2406;EAS_AF=0.1319;EUR_AF=0.0924;SAS_AF=0.1881 rs7843262 8:98026273 A ENSG00000132561 ENST00000522025 Transcript intron_variant - - - - - rs7843262 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.1224;AFR_AF=0.0272;AMR_AF=0.2406;EAS_AF=0.1319;EUR_AF=0.0924;SAS_AF=0.1881 rs7843262 8:98026273 A ENSG00000132561 ENST00000524308 Transcript intron_variant - - - - - rs7843262 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.1224;AFR_AF=0.0272;AMR_AF=0.2406;EAS_AF=0.1319;EUR_AF=0.0924;SAS_AF=0.1881 rs547351986 8:98026983 C ENSG00000132561 ENST00000254898 Transcript intron_variant - - - - - rs547351986 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs547351986 8:98026983 C ENSG00000132561 ENST00000517321 Transcript intron_variant - - - - - rs547351986 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_start_NF,cds_end_NF;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs547351986 8:98026983 C ENSG00000132561 ENST00000518154 Transcript intron_variant - - - - - rs547351986 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_start_NF;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs547351986 8:98026983 C ENSG00000156482 ENST00000518164 Transcript intron_variant,non_coding_transcript_variant - - - - - rs547351986 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=RPL30;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10333;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs547351986 8:98026983 C ENSG00000132561 ENST00000518370 Transcript intron_variant,non_coding_transcript_variant - - - - - rs547351986 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs547351986 8:98026983 C ENSG00000132561 ENST00000519582 Transcript upstream_gene_variant - - - - - rs547351986 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=724;STRAND=1;FLAGS=cds_start_NF;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs547351986 8:98026983 C ENSG00000132561 ENST00000520016 Transcript intron_variant - - - - - rs547351986 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs547351986 8:98026983 C ENSG00000132561 ENST00000521689 Transcript intron_variant - - - - - rs547351986 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs547351986 8:98026983 C ENSG00000132561 ENST00000521952 Transcript intron_variant,NMD_transcript_variant - - - - - rs547351986 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_start_NF;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs547351986 8:98026983 C ENSG00000132561 ENST00000522025 Transcript intron_variant - - - - - rs547351986 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs547351986 8:98026983 C ENSG00000132561 ENST00000523561 Transcript upstream_gene_variant - - - - - rs547351986 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=4459;STRAND=1;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs547351986 8:98026983 C ENSG00000132561 ENST00000524308 Transcript intron_variant - - - - - rs547351986 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs528820253 8:98027352 G ENSG00000132561 ENST00000254898 Transcript intron_variant - - - - - rs528820253 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs528820253 8:98027352 G ENSG00000132561 ENST00000517321 Transcript intron_variant - - - - - rs528820253 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_start_NF,cds_end_NF;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs528820253 8:98027352 G ENSG00000132561 ENST00000518154 Transcript intron_variant - - - - - rs528820253 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_start_NF;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs528820253 8:98027352 G ENSG00000156482 ENST00000518164 Transcript intron_variant,non_coding_transcript_variant - - - - - rs528820253 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=RPL30;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10333;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs528820253 8:98027352 G ENSG00000132561 ENST00000518370 Transcript intron_variant,non_coding_transcript_variant - - - - - rs528820253 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs528820253 8:98027352 G ENSG00000132561 ENST00000519582 Transcript upstream_gene_variant - - - - - rs528820253 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=355;STRAND=1;FLAGS=cds_start_NF;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs528820253 8:98027352 G ENSG00000132561 ENST00000520016 Transcript intron_variant - - - - - rs528820253 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs528820253 8:98027352 G ENSG00000132561 ENST00000521689 Transcript intron_variant - - - - - rs528820253 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs528820253 8:98027352 G ENSG00000132561 ENST00000521952 Transcript intron_variant,NMD_transcript_variant - - - - - rs528820253 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_start_NF;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs528820253 8:98027352 G ENSG00000132561 ENST00000522025 Transcript intron_variant - - - - - rs528820253 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs528820253 8:98027352 G ENSG00000132561 ENST00000522135 Transcript upstream_gene_variant - - - - - rs528820253 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=4897;STRAND=1;FLAGS=cds_start_NF;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs528820253 8:98027352 G ENSG00000132561 ENST00000523561 Transcript upstream_gene_variant - - - - - rs528820253 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=4090;STRAND=1;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs528820253 8:98027352 G ENSG00000132561 ENST00000524308 Transcript intron_variant - - - - - rs528820253 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs142539554 8:98028267 C ENSG00000132561 ENST00000254898 Transcript intron_variant - - - - - rs142539554 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0008;AFR_AF=0;AMR_AF=0;EAS_AF=0.004;EUR_AF=0;SAS_AF=0 rs142539554 8:98028267 C ENSG00000132561 ENST00000517321 Transcript downstream_gene_variant - - - - - rs142539554 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=546;STRAND=1;FLAGS=cds_start_NF,cds_end_NF;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0008;AFR_AF=0;AMR_AF=0;EAS_AF=0.004;EUR_AF=0;SAS_AF=0 rs142539554 8:98028267 C ENSG00000132561 ENST00000518154 Transcript intron_variant - - - - - rs142539554 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_start_NF;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0008;AFR_AF=0;AMR_AF=0;EAS_AF=0.004;EUR_AF=0;SAS_AF=0 rs142539554 8:98028267 C ENSG00000156482 ENST00000518164 Transcript intron_variant,non_coding_transcript_variant - - - - - rs142539554 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=RPL30;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10333;AF=0.0008;AFR_AF=0;AMR_AF=0;EAS_AF=0.004;EUR_AF=0;SAS_AF=0 rs142539554 8:98028267 C ENSG00000132561 ENST00000518370 Transcript downstream_gene_variant - - - - - rs142539554 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=589;STRAND=1;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0008;AFR_AF=0;AMR_AF=0;EAS_AF=0.004;EUR_AF=0;SAS_AF=0 rs142539554 8:98028267 C ENSG00000132561 ENST00000519582 Transcript intron_variant - - - - - rs142539554 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_start_NF;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0008;AFR_AF=0;AMR_AF=0;EAS_AF=0.004;EUR_AF=0;SAS_AF=0 rs142539554 8:98028267 C ENSG00000132561 ENST00000520016 Transcript intron_variant - - - - - rs142539554 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0008;AFR_AF=0;AMR_AF=0;EAS_AF=0.004;EUR_AF=0;SAS_AF=0 rs142539554 8:98028267 C ENSG00000132561 ENST00000521689 Transcript intron_variant - - - - - rs142539554 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0008;AFR_AF=0;AMR_AF=0;EAS_AF=0.004;EUR_AF=0;SAS_AF=0 rs142539554 8:98028267 C ENSG00000132561 ENST00000521952 Transcript intron_variant,NMD_transcript_variant - - - - - rs142539554 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_start_NF;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0008;AFR_AF=0;AMR_AF=0;EAS_AF=0.004;EUR_AF=0;SAS_AF=0 rs142539554 8:98028267 C ENSG00000132561 ENST00000522025 Transcript intron_variant - - - - - rs142539554 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0008;AFR_AF=0;AMR_AF=0;EAS_AF=0.004;EUR_AF=0;SAS_AF=0 rs142539554 8:98028267 C ENSG00000132561 ENST00000522135 Transcript upstream_gene_variant - - - - - rs142539554 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=3982;STRAND=1;FLAGS=cds_start_NF;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0008;AFR_AF=0;AMR_AF=0;EAS_AF=0.004;EUR_AF=0;SAS_AF=0 rs142539554 8:98028267 C ENSG00000132561 ENST00000523561 Transcript upstream_gene_variant - - - - - rs142539554 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=3175;STRAND=1;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0008;AFR_AF=0;AMR_AF=0;EAS_AF=0.004;EUR_AF=0;SAS_AF=0 rs142539554 8:98028267 C ENSG00000132561 ENST00000524308 Transcript intron_variant - - - - - rs142539554 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0008;AFR_AF=0;AMR_AF=0;EAS_AF=0.004;EUR_AF=0;SAS_AF=0 rs145224837 8:98028955 A ENSG00000132561 ENST00000254898 Transcript intron_variant - - - - - rs145224837 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0006;AFR_AF=0.0023;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs145224837 8:98028955 A ENSG00000132561 ENST00000517321 Transcript downstream_gene_variant - - - - - rs145224837 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1234;STRAND=1;FLAGS=cds_start_NF,cds_end_NF;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0006;AFR_AF=0.0023;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs145224837 8:98028955 A ENSG00000132561 ENST00000518154 Transcript intron_variant - - - - - rs145224837 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_start_NF;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0006;AFR_AF=0.0023;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs145224837 8:98028955 A ENSG00000156482 ENST00000518164 Transcript intron_variant,non_coding_transcript_variant - - - - - rs145224837 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=RPL30;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10333;AF=0.0006;AFR_AF=0.0023;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs145224837 8:98028955 A ENSG00000132561 ENST00000518370 Transcript downstream_gene_variant - - - - - rs145224837 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1277;STRAND=1;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0006;AFR_AF=0.0023;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs145224837 8:98028955 A ENSG00000132561 ENST00000519582 Transcript intron_variant - - - - - rs145224837 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_start_NF;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0006;AFR_AF=0.0023;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs145224837 8:98028955 A ENSG00000132561 ENST00000520016 Transcript intron_variant - - - - - rs145224837 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0006;AFR_AF=0.0023;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs145224837 8:98028955 A ENSG00000132561 ENST00000521689 Transcript intron_variant - - - - - rs145224837 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0006;AFR_AF=0.0023;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs145224837 8:98028955 A ENSG00000132561 ENST00000521952 Transcript intron_variant,NMD_transcript_variant - - - - - rs145224837 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_start_NF;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0006;AFR_AF=0.0023;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs145224837 8:98028955 A ENSG00000132561 ENST00000522025 Transcript intron_variant - - - - - rs145224837 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0006;AFR_AF=0.0023;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs145224837 8:98028955 A ENSG00000132561 ENST00000522135 Transcript upstream_gene_variant - - - - - rs145224837 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=3294;STRAND=1;FLAGS=cds_start_NF;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0006;AFR_AF=0.0023;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs145224837 8:98028955 A ENSG00000132561 ENST00000523561 Transcript upstream_gene_variant - - - - - rs145224837 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2487;STRAND=1;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0006;AFR_AF=0.0023;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs145224837 8:98028955 A ENSG00000132561 ENST00000524308 Transcript intron_variant - - - - - rs145224837 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0006;AFR_AF=0.0023;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs11996804 8:98029057 C ENSG00000132561 ENST00000254898 Transcript intron_variant - - - - - rs11996804 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs11996804 8:98029057 C ENSG00000132561 ENST00000517321 Transcript downstream_gene_variant - - - - - rs11996804 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1336;STRAND=1;FLAGS=cds_start_NF,cds_end_NF;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs11996804 8:98029057 C ENSG00000132561 ENST00000518154 Transcript intron_variant - - - - - rs11996804 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_start_NF;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs11996804 8:98029057 C ENSG00000156482 ENST00000518164 Transcript intron_variant,non_coding_transcript_variant - - - - - rs11996804 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=RPL30;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10333;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs11996804 8:98029057 C ENSG00000132561 ENST00000518370 Transcript downstream_gene_variant - - - - - rs11996804 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1379;STRAND=1;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs11996804 8:98029057 C ENSG00000132561 ENST00000519582 Transcript intron_variant - - - - - rs11996804 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_start_NF;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs11996804 8:98029057 C ENSG00000132561 ENST00000520016 Transcript intron_variant - - - - - rs11996804 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs11996804 8:98029057 C ENSG00000132561 ENST00000521689 Transcript intron_variant - - - - - rs11996804 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs11996804 8:98029057 C ENSG00000132561 ENST00000521952 Transcript intron_variant,NMD_transcript_variant - - - - - rs11996804 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_start_NF;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs11996804 8:98029057 C ENSG00000132561 ENST00000522025 Transcript intron_variant - - - - - rs11996804 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs11996804 8:98029057 C ENSG00000132561 ENST00000522135 Transcript upstream_gene_variant - - - - - rs11996804 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=3192;STRAND=1;FLAGS=cds_start_NF;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs11996804 8:98029057 C ENSG00000132561 ENST00000523561 Transcript upstream_gene_variant - - - - - rs11996804 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2385;STRAND=1;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs11996804 8:98029057 C ENSG00000132561 ENST00000524308 Transcript intron_variant - - - - - rs11996804 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs557943547 8:98030220 A ENSG00000132561 ENST00000254898 Transcript intron_variant - - - - - rs557943547 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0004;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.002;SAS_AF=0 rs557943547 8:98030220 A ENSG00000132561 ENST00000517321 Transcript downstream_gene_variant - - - - - rs557943547 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=2499;STRAND=1;FLAGS=cds_start_NF,cds_end_NF;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0004;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.002;SAS_AF=0 rs557943547 8:98030220 A ENSG00000132561 ENST00000518154 Transcript intron_variant - - - - - rs557943547 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_start_NF;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0004;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.002;SAS_AF=0 rs557943547 8:98030220 A ENSG00000156482 ENST00000518164 Transcript intron_variant,non_coding_transcript_variant - - - - - rs557943547 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=RPL30;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10333;AF=0.0004;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.002;SAS_AF=0 rs557943547 8:98030220 A ENSG00000132561 ENST00000518370 Transcript downstream_gene_variant - - - - - rs557943547 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=2542;STRAND=1;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0004;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.002;SAS_AF=0 rs557943547 8:98030220 A ENSG00000132561 ENST00000519582 Transcript intron_variant - - - - - rs557943547 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_start_NF;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0004;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.002;SAS_AF=0 rs557943547 8:98030220 A ENSG00000132561 ENST00000520016 Transcript intron_variant - - - - - rs557943547 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0004;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.002;SAS_AF=0 rs557943547 8:98030220 A ENSG00000132561 ENST00000521689 Transcript intron_variant - - - - - rs557943547 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0004;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.002;SAS_AF=0 rs557943547 8:98030220 A ENSG00000132561 ENST00000521952 Transcript intron_variant,NMD_transcript_variant - - - - - rs557943547 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_start_NF;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0004;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.002;SAS_AF=0 rs557943547 8:98030220 A ENSG00000132561 ENST00000522025 Transcript intron_variant - - - - - rs557943547 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0004;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.002;SAS_AF=0 rs557943547 8:98030220 A ENSG00000132561 ENST00000522135 Transcript upstream_gene_variant - - - - - rs557943547 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=2029;STRAND=1;FLAGS=cds_start_NF;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0004;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.002;SAS_AF=0 rs557943547 8:98030220 A ENSG00000132561 ENST00000523561 Transcript upstream_gene_variant - - - - - rs557943547 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=1222;STRAND=1;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0004;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.002;SAS_AF=0 rs557943547 8:98030220 A ENSG00000132561 ENST00000524308 Transcript intron_variant - - - - - rs557943547 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0004;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.002;SAS_AF=0 rs541226196 8:98030343 G ENSG00000132561 ENST00000254898 Transcript intron_variant - - - - - rs541226196 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs541226196 8:98030343 G ENSG00000132561 ENST00000517321 Transcript downstream_gene_variant - - - - - rs541226196 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2622;STRAND=1;FLAGS=cds_start_NF,cds_end_NF;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs541226196 8:98030343 G ENSG00000132561 ENST00000518154 Transcript intron_variant - - - - - rs541226196 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_start_NF;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs541226196 8:98030343 G ENSG00000156482 ENST00000518164 Transcript intron_variant,non_coding_transcript_variant - - - - - rs541226196 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=RPL30;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10333;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs541226196 8:98030343 G ENSG00000132561 ENST00000518370 Transcript downstream_gene_variant - - - - - rs541226196 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2665;STRAND=1;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs541226196 8:98030343 G ENSG00000132561 ENST00000519582 Transcript intron_variant - - - - - rs541226196 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_start_NF;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs541226196 8:98030343 G ENSG00000132561 ENST00000520016 Transcript intron_variant - - - - - rs541226196 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs541226196 8:98030343 G ENSG00000132561 ENST00000521689 Transcript intron_variant - - - - - rs541226196 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs541226196 8:98030343 G ENSG00000132561 ENST00000521952 Transcript intron_variant,NMD_transcript_variant - - - - - rs541226196 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_start_NF;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs541226196 8:98030343 G ENSG00000132561 ENST00000522025 Transcript intron_variant - - - - - rs541226196 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs541226196 8:98030343 G ENSG00000132561 ENST00000522135 Transcript upstream_gene_variant - - - - - rs541226196 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1906;STRAND=1;FLAGS=cds_start_NF;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs541226196 8:98030343 G ENSG00000132561 ENST00000523561 Transcript upstream_gene_variant - - - - - rs541226196 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1099;STRAND=1;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs541226196 8:98030343 G ENSG00000132561 ENST00000524308 Transcript intron_variant - - - - - rs541226196 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs561713629 8:98031212 T ENSG00000132561 ENST00000254898 Transcript intron_variant - - - - - rs561713629 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs561713629 8:98031212 T ENSG00000132561 ENST00000517321 Transcript downstream_gene_variant - - - - - rs561713629 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=3491;STRAND=1;FLAGS=cds_start_NF,cds_end_NF;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs561713629 8:98031212 T ENSG00000132561 ENST00000518154 Transcript intron_variant - - - - - rs561713629 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_start_NF;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs561713629 8:98031212 T ENSG00000156482 ENST00000518164 Transcript intron_variant,non_coding_transcript_variant - - - - - rs561713629 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=RPL30;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10333;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs561713629 8:98031212 T ENSG00000132561 ENST00000518370 Transcript downstream_gene_variant - - - - - rs561713629 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=3534;STRAND=1;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs561713629 8:98031212 T ENSG00000132561 ENST00000519582 Transcript intron_variant - - - - - rs561713629 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_start_NF;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs561713629 8:98031212 T ENSG00000132561 ENST00000520016 Transcript intron_variant - - - - - rs561713629 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs561713629 8:98031212 T ENSG00000132561 ENST00000521689 Transcript intron_variant - - - - - rs561713629 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs561713629 8:98031212 T ENSG00000132561 ENST00000521952 Transcript intron_variant,NMD_transcript_variant - - - - - rs561713629 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_start_NF;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs561713629 8:98031212 T ENSG00000132561 ENST00000522025 Transcript intron_variant - - - - - rs561713629 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs561713629 8:98031212 T ENSG00000132561 ENST00000522135 Transcript upstream_gene_variant - - - - - rs561713629 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=1037;STRAND=1;FLAGS=cds_start_NF;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs561713629 8:98031212 T ENSG00000132561 ENST00000523561 Transcript upstream_gene_variant - - - - - rs561713629 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=230;STRAND=1;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs561713629 8:98031212 T ENSG00000132561 ENST00000524308 Transcript intron_variant - - - - - rs561713629 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs111236231 8:98032787 T ENSG00000132561 ENST00000254898 Transcript intron_variant - - - - - rs111236231 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0010;AFR_AF=0.0038;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs111236231 8:98032787 T ENSG00000132561 ENST00000518154 Transcript intron_variant - - - - - rs111236231 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_start_NF;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0010;AFR_AF=0.0038;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs111236231 8:98032787 T ENSG00000156482 ENST00000518164 Transcript intron_variant,non_coding_transcript_variant - - - - - rs111236231 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=RPL30;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10333;AF=0.0010;AFR_AF=0.0038;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs111236231 8:98032787 T ENSG00000132561 ENST00000519582 Transcript intron_variant - - - - - rs111236231 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_start_NF;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0010;AFR_AF=0.0038;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs111236231 8:98032787 T ENSG00000132561 ENST00000520016 Transcript intron_variant - - - - - rs111236231 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0010;AFR_AF=0.0038;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs111236231 8:98032787 T ENSG00000132561 ENST00000521689 Transcript intron_variant - - - - - rs111236231 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0010;AFR_AF=0.0038;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs111236231 8:98032787 T ENSG00000132561 ENST00000521952 Transcript intron_variant,NMD_transcript_variant - - - - - rs111236231 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_start_NF;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0010;AFR_AF=0.0038;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs111236231 8:98032787 T ENSG00000132561 ENST00000522025 Transcript intron_variant - - - - - rs111236231 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0010;AFR_AF=0.0038;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs111236231 8:98032787 T ENSG00000132561 ENST00000522135 Transcript intron_variant - - - - - rs111236231 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_start_NF;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0010;AFR_AF=0.0038;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs111236231 8:98032787 T ENSG00000132561 ENST00000523561 Transcript intron_variant,non_coding_transcript_variant - - - - - rs111236231 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0010;AFR_AF=0.0038;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs111236231 8:98032787 T ENSG00000132561 ENST00000524308 Transcript intron_variant - - - - - rs111236231 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0010;AFR_AF=0.0038;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs192228074 8:98036245 T ENSG00000132561 ENST00000254898 Transcript 3_prime_UTR_variant 3654 - - - - rs192228074 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs192228074 8:98036245 T ENSG00000132561 ENST00000518154 Transcript downstream_gene_variant - - - - - rs192228074 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=31;STRAND=1;FLAGS=cds_start_NF;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs192228074 8:98036245 T ENSG00000156482 ENST00000518164 Transcript intron_variant,non_coding_transcript_variant - - - - - rs192228074 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=RPL30;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10333;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs192228074 8:98036245 T ENSG00000132561 ENST00000519582 Transcript downstream_gene_variant - - - - - rs192228074 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1935;STRAND=1;FLAGS=cds_start_NF;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs192228074 8:98036245 T ENSG00000132561 ENST00000520016 Transcript downstream_gene_variant - - - - - rs192228074 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=33;STRAND=1;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs192228074 8:98036245 T ENSG00000132561 ENST00000521689 Transcript downstream_gene_variant - - - - - rs192228074 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=267;STRAND=1;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs192228074 8:98036245 T ENSG00000132561 ENST00000521952 Transcript downstream_gene_variant - - - - - rs192228074 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=542;STRAND=1;FLAGS=cds_start_NF;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs192228074 8:98036245 T ENSG00000132561 ENST00000522025 Transcript downstream_gene_variant - - - - - rs192228074 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=31;STRAND=1;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs192228074 8:98036245 T ENSG00000132561 ENST00000522135 Transcript downstream_gene_variant - - - - - rs192228074 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2473;STRAND=1;FLAGS=cds_start_NF;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs192228074 8:98036245 T ENSG00000132561 ENST00000523561 Transcript downstream_gene_variant - - - - - rs192228074 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=87;STRAND=1;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs192228074 8:98036245 T ENSG00000132561 ENST00000524308 Transcript downstream_gene_variant - - - - - rs192228074 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=35;STRAND=1;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs149017371 8:98036679 A ENSG00000132561 ENST00000254898 Transcript 3_prime_UTR_variant 4088 - - - - rs149017371 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs149017371 8:98036679 A ENSG00000132561 ENST00000518154 Transcript downstream_gene_variant - - - - - rs149017371 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=465;STRAND=1;FLAGS=cds_start_NF;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs149017371 8:98036679 A ENSG00000156482 ENST00000518164 Transcript intron_variant,non_coding_transcript_variant - - - - - rs149017371 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=RPL30;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10333;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs149017371 8:98036679 A ENSG00000132561 ENST00000519582 Transcript downstream_gene_variant - - - - - rs149017371 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=2369;STRAND=1;FLAGS=cds_start_NF;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs149017371 8:98036679 A ENSG00000132561 ENST00000520016 Transcript downstream_gene_variant - - - - - rs149017371 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=467;STRAND=1;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs149017371 8:98036679 A ENSG00000132561 ENST00000521689 Transcript downstream_gene_variant - - - - - rs149017371 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=701;STRAND=1;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs149017371 8:98036679 A ENSG00000132561 ENST00000521952 Transcript downstream_gene_variant - - - - - rs149017371 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=976;STRAND=1;FLAGS=cds_start_NF;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs149017371 8:98036679 A ENSG00000132561 ENST00000522025 Transcript downstream_gene_variant - - - - - rs149017371 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=465;STRAND=1;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs149017371 8:98036679 A ENSG00000132561 ENST00000522135 Transcript downstream_gene_variant - - - - - rs149017371 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=2907;STRAND=1;FLAGS=cds_start_NF;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs149017371 8:98036679 A ENSG00000132561 ENST00000523561 Transcript downstream_gene_variant - - - - - rs149017371 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=521;STRAND=1;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs149017371 8:98036679 A ENSG00000132561 ENST00000524308 Transcript downstream_gene_variant - - - - - rs149017371 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=469;STRAND=1;SYMBOL=MATN2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6908;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs1340951231 8:98104440 C ENSG00000132541 ENST00000254878 Transcript intron_variant - - - - - rs1340951231 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=RIDA;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16897;gnomAD_AF=4.193e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=3.3e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1340951231 8:98104440 C ENSG00000132541 ENST00000519608 Transcript intron_variant,non_coding_transcript_variant - - - - - rs1340951231 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=RIDA;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16897;gnomAD_AF=4.193e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=3.3e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1340951231 8:98104440 C ENSG00000132541 ENST00000520507 Transcript intron_variant - - - - - rs1340951231 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;FLAGS=cds_start_NF;SYMBOL=RIDA;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16897;gnomAD_AF=4.193e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=3.3e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1340951231 8:98104440 C ENSG00000132541 ENST00000521560 Transcript intron_variant - - - - - rs1340951231 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;FLAGS=cds_start_NF;SYMBOL=RIDA;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16897;gnomAD_AF=4.193e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=3.3e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1340951231 8:98104440 C ENSG00000132541 ENST00000522791 Transcript intron_variant,NMD_transcript_variant - - - - - rs1340951231 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=RIDA;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16897;gnomAD_AF=4.193e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=3.3e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs766902349 8:98104581 A ENSG00000132541 ENST00000254878 Transcript intron_variant - - - - - rs766902349 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=RIDA;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16897;gnomAD_AF=8.88e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=7.214e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs766902349 8:98104581 A ENSG00000132541 ENST00000519608 Transcript intron_variant,non_coding_transcript_variant - - - - - rs766902349 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=RIDA;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16897;gnomAD_AF=8.88e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=7.214e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs766902349 8:98104581 A ENSG00000132541 ENST00000520507 Transcript intron_variant - - - - - rs766902349 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;FLAGS=cds_start_NF;SYMBOL=RIDA;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16897;gnomAD_AF=8.88e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=7.214e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs766902349 8:98104581 A ENSG00000132541 ENST00000521560 Transcript intron_variant - - - - - rs766902349 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;FLAGS=cds_start_NF;SYMBOL=RIDA;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16897;gnomAD_AF=8.88e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=7.214e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs766902349 8:98104581 A ENSG00000132541 ENST00000522791 Transcript intron_variant,NMD_transcript_variant - - - - - rs766902349 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=RIDA;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16897;gnomAD_AF=8.88e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=7.214e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs112409824 8:98106358 G ENSG00000132541 ENST00000254878 Transcript intron_variant - - - - - rs112409824 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=RIDA;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16897;gnomAD_AF=8.07e-06;gnomAD_AFR_AF=0.0001239;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs112409824 8:98106358 G ENSG00000132541 ENST00000519608 Transcript non_coding_transcript_exon_variant 274 - - - - rs112409824 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=RIDA;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16897;gnomAD_AF=8.07e-06;gnomAD_AFR_AF=0.0001239;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs112409824 8:98106358 G ENSG00000132541 ENST00000520507 Transcript intron_variant - - - - - rs112409824 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;FLAGS=cds_start_NF;SYMBOL=RIDA;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16897;gnomAD_AF=8.07e-06;gnomAD_AFR_AF=0.0001239;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs112409824 8:98106358 G ENSG00000132541 ENST00000521560 Transcript intron_variant - - - - - rs112409824 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;FLAGS=cds_start_NF;SYMBOL=RIDA;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16897;gnomAD_AF=8.07e-06;gnomAD_AFR_AF=0.0001239;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs112409824 8:98106358 G ENSG00000132541 ENST00000522791 Transcript intron_variant,NMD_transcript_variant - - - - - rs112409824 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=RIDA;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16897;gnomAD_AF=8.07e-06;gnomAD_AFR_AF=0.0001239;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1296955012 8:98106359-98106360 CCTCA ENSG00000132541 ENST00000254878 Transcript intron_variant - - - - - rs1296955012 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=RIDA;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16897;gnomAD_AF=4.047e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=3.004e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1296955012 8:98106359-98106360 CCTCA ENSG00000132541 ENST00000519608 Transcript non_coding_transcript_exon_variant 272-273 - - - - rs1296955012 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=RIDA;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16897;gnomAD_AF=4.047e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=3.004e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1296955012 8:98106359-98106360 CCTCA ENSG00000132541 ENST00000520507 Transcript intron_variant - - - - - rs1296955012 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;FLAGS=cds_start_NF;SYMBOL=RIDA;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16897;gnomAD_AF=4.047e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=3.004e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1296955012 8:98106359-98106360 CCTCA ENSG00000132541 ENST00000521560 Transcript intron_variant - - - - - rs1296955012 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;FLAGS=cds_start_NF;SYMBOL=RIDA;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16897;gnomAD_AF=4.047e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=3.004e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1296955012 8:98106359-98106360 CCTCA ENSG00000132541 ENST00000522791 Transcript intron_variant,NMD_transcript_variant - - - - - rs1296955012 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=RIDA;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16897;gnomAD_AF=4.047e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=3.004e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1281266767 8:98108803 T ENSG00000132541 ENST00000254878 Transcript intron_variant - - - - - rs1281266767 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=RIDA;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16897;gnomAD_AF=4.634e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=9.929e-06;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1281266767 8:98108803 T ENSG00000132541 ENST00000519155 Transcript downstream_gene_variant - - - - - rs1281266767 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=4835;STRAND=-1;SYMBOL=RIDA;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16897;gnomAD_AF=4.634e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=9.929e-06;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1281266767 8:98108803 T ENSG00000132541 ENST00000519608 Transcript upstream_gene_variant - - - - - rs1281266767 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2172;STRAND=-1;SYMBOL=RIDA;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16897;gnomAD_AF=4.634e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=9.929e-06;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1281266767 8:98108803 T ENSG00000132541 ENST00000520507 Transcript intron_variant - - - - - rs1281266767 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;FLAGS=cds_start_NF;SYMBOL=RIDA;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16897;gnomAD_AF=4.634e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=9.929e-06;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1281266767 8:98108803 T ENSG00000132541 ENST00000521560 Transcript intron_variant - - - - - rs1281266767 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;FLAGS=cds_start_NF;SYMBOL=RIDA;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16897;gnomAD_AF=4.634e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=9.929e-06;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1281266767 8:98108803 T ENSG00000132541 ENST00000522791 Transcript intron_variant,NMD_transcript_variant - - - - - rs1281266767 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=RIDA;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16897;gnomAD_AF=4.634e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=9.929e-06;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs775375075 8:98117114 A ENSG00000132541 ENST00000254878 Transcript 5_prime_UTR_variant 58 - - - - rs775375075 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=RIDA;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16897;gnomAD_AF=3.978e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=4.624e-05;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs775375075 8:98117114 A ENSG00000104356 ENST00000349693 Transcript upstream_gene_variant - - - - - rs775375075 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=726;STRAND=1;SYMBOL=POP1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30129;gnomAD_AF=3.978e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=4.624e-05;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs775375075 8:98117114 A ENSG00000104356 ENST00000401707 Transcript upstream_gene_variant - - - - - rs775375075 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=179;STRAND=1;SYMBOL=POP1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30129;gnomAD_AF=3.978e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=4.624e-05;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs775375075 8:98117114 A ENSG00000132541 ENST00000519155 Transcript non_coding_transcript_exon_variant 1 - - - - rs775375075 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=RIDA;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16897;gnomAD_AF=3.978e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=4.624e-05;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs775375075 8:98117114 A ENSG00000132541 ENST00000520507 Transcript upstream_gene_variant - - - - - rs775375075 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=4;STRAND=-1;FLAGS=cds_start_NF;SYMBOL=RIDA;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16897;gnomAD_AF=3.978e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=4.624e-05;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs775375075 8:98117114 A ENSG00000132541 ENST00000521560 Transcript missense_variant 58 59 20 Q/L cAa/cTa rs775375075 IND=P2;ZYG=HOM;IMPACT=MODERATE;STRAND=-1;FLAGS=cds_start_NF;SYMBOL=RIDA;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16897;SIFT=deleterious_low_confidence(0);PolyPhen=unknown(0);gnomAD_AF=3.978e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=4.624e-05;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs775375075 8:98117114 A ENSG00000104356 ENST00000522319 Transcript upstream_gene_variant - - - - - rs775375075 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=183;STRAND=1;FLAGS=cds_end_NF;SYMBOL=POP1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30129;gnomAD_AF=3.978e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=4.624e-05;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs775375075 8:98117114 A ENSG00000132541 ENST00000522791 Transcript 5_prime_UTR_variant,NMD_transcript_variant 46 - - - - rs775375075 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=RIDA;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16897;gnomAD_AF=3.978e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=4.624e-05;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs573195681 9:34457522 C ENSG00000122735 ENST00000242317 Transcript upstream_gene_variant - - - - - rs573195681 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1283;STRAND=1;SYMBOL=DNAI1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2954;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs573195681 9:34457522 C ENSG00000164970 ENST00000297620 Transcript intron_variant - - - - - rs573195681 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=FAM219A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19920;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs573195681 9:34457522 C ENSG00000164970 ENST00000379078 Transcript intron_variant - - - - - rs573195681 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=FAM219A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19920;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs573195681 9:34457522 C ENSG00000164970 ENST00000379080 Transcript intron_variant - - - - - rs573195681 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=FAM219A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19920;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs573195681 9:34457522 C ENSG00000164970 ENST00000379081 Transcript intron_variant - - - - - rs573195681 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=FAM219A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19920;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs573195681 9:34457522 C ENSG00000164970 ENST00000379084 Transcript intron_variant - - - - - rs573195681 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=FAM219A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19920;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs573195681 9:34457522 C ENSG00000164970 ENST00000379087 Transcript intron_variant - - - - - rs573195681 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=FAM219A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19920;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs573195681 9:34457522 C ENSG00000164970 ENST00000379089 Transcript intron_variant - - - - - rs573195681 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=FAM219A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19920;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs573195681 9:34457522 C ENSG00000164970 ENST00000422409 Transcript intron_variant - - - - - rs573195681 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;FLAGS=cds_end_NF;SYMBOL=FAM219A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19920;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs573195681 9:34457522 C ENSG00000122735 ENST00000437363 Transcript upstream_gene_variant - - - - - rs573195681 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1313;STRAND=1;FLAGS=cds_end_NF;SYMBOL=DNAI1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2954;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs573195681 9:34457522 C ENSG00000164970 ENST00000445726 Transcript intron_variant - - - - - rs573195681 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=FAM219A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19920;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs573195681 9:34457522 C ENSG00000122735 ENST00000470982 Transcript intron_variant,non_coding_transcript_variant - - - - - rs573195681 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=DNAI1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2954;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs573195681 9:34457522 C ENSG00000122735 ENST00000614641 Transcript upstream_gene_variant - - - - - rs573195681 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1230;STRAND=1;SYMBOL=DNAI1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2954;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs573195681 9:34457522 C ENSG00000164970 ENST00000651358 Transcript intron_variant - - - - - rs573195681 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=FAM219A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19920;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs10972126 9:34458380 G ENSG00000122735 ENST00000242317 Transcript upstream_gene_variant - - - - - rs10972126 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=425;STRAND=1;SYMBOL=DNAI1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2954;AF=0.0491;AFR_AF=0.0477;AMR_AF=0.0591;EAS_AF=0.1121;EUR_AF=0.004;SAS_AF=0.0256 rs10972126 9:34458380 G ENSG00000164970 ENST00000297620 Transcript 5_prime_UTR_variant 191 - - - - rs10972126 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=FAM219A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19920;AF=0.0491;AFR_AF=0.0477;AMR_AF=0.0591;EAS_AF=0.1121;EUR_AF=0.004;SAS_AF=0.0256 rs10972126 9:34458380 G ENSG00000164970 ENST00000379078 Transcript 5_prime_UTR_variant 173 - - - - rs10972126 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=FAM219A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19920;AF=0.0491;AFR_AF=0.0477;AMR_AF=0.0591;EAS_AF=0.1121;EUR_AF=0.004;SAS_AF=0.0256 rs10972126 9:34458380 G ENSG00000164970 ENST00000379080 Transcript 5_prime_UTR_variant 173 - - - - rs10972126 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=FAM219A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19920;AF=0.0491;AFR_AF=0.0477;AMR_AF=0.0591;EAS_AF=0.1121;EUR_AF=0.004;SAS_AF=0.0256 rs10972126 9:34458380 G ENSG00000164970 ENST00000379081 Transcript 5_prime_UTR_variant 173 - - - - rs10972126 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=FAM219A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19920;AF=0.0491;AFR_AF=0.0477;AMR_AF=0.0591;EAS_AF=0.1121;EUR_AF=0.004;SAS_AF=0.0256 rs10972126 9:34458380 G ENSG00000164970 ENST00000379084 Transcript 5_prime_UTR_variant 173 - - - - rs10972126 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=FAM219A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19920;AF=0.0491;AFR_AF=0.0477;AMR_AF=0.0591;EAS_AF=0.1121;EUR_AF=0.004;SAS_AF=0.0256 rs10972126 9:34458380 G ENSG00000164970 ENST00000379087 Transcript 5_prime_UTR_variant 173 - - - - rs10972126 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=FAM219A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19920;AF=0.0491;AFR_AF=0.0477;AMR_AF=0.0591;EAS_AF=0.1121;EUR_AF=0.004;SAS_AF=0.0256 rs10972126 9:34458380 G ENSG00000164970 ENST00000379089 Transcript 5_prime_UTR_variant 173 - - - - rs10972126 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=FAM219A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19920;AF=0.0491;AFR_AF=0.0477;AMR_AF=0.0591;EAS_AF=0.1121;EUR_AF=0.004;SAS_AF=0.0256 rs10972126 9:34458380 G ENSG00000164970 ENST00000422409 Transcript 5_prime_UTR_variant 173 - - - - rs10972126 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;FLAGS=cds_end_NF;SYMBOL=FAM219A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19920;AF=0.0491;AFR_AF=0.0477;AMR_AF=0.0591;EAS_AF=0.1121;EUR_AF=0.004;SAS_AF=0.0256 rs10972126 9:34458380 G ENSG00000122735 ENST00000437363 Transcript upstream_gene_variant - - - - - rs10972126 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=455;STRAND=1;FLAGS=cds_end_NF;SYMBOL=DNAI1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2954;AF=0.0491;AFR_AF=0.0477;AMR_AF=0.0591;EAS_AF=0.1121;EUR_AF=0.004;SAS_AF=0.0256 rs10972126 9:34458380 G ENSG00000164970 ENST00000445726 Transcript 5_prime_UTR_variant 191 - - - - rs10972126 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=FAM219A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19920;AF=0.0491;AFR_AF=0.0477;AMR_AF=0.0591;EAS_AF=0.1121;EUR_AF=0.004;SAS_AF=0.0256 rs10972126 9:34458380 G ENSG00000122735 ENST00000470982 Transcript intron_variant,non_coding_transcript_variant - - - - - rs10972126 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=DNAI1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2954;AF=0.0491;AFR_AF=0.0477;AMR_AF=0.0591;EAS_AF=0.1121;EUR_AF=0.004;SAS_AF=0.0256 rs10972126 9:34458380 G ENSG00000122735 ENST00000614641 Transcript upstream_gene_variant - - - - - rs10972126 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=372;STRAND=1;SYMBOL=DNAI1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2954;AF=0.0491;AFR_AF=0.0477;AMR_AF=0.0591;EAS_AF=0.1121;EUR_AF=0.004;SAS_AF=0.0256 rs10972126 9:34458380 G ENSG00000164970 ENST00000651358 Transcript 5_prime_UTR_variant 191 - - - - rs10972126 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=FAM219A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19920;AF=0.0491;AFR_AF=0.0477;AMR_AF=0.0591;EAS_AF=0.1121;EUR_AF=0.004;SAS_AF=0.0256 rs59612922 9:34458384 A ENSG00000122735 ENST00000242317 Transcript upstream_gene_variant - - - - - rs59612922 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=421;STRAND=1;SYMBOL=DNAI1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2954;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs59612922 9:34458384 A ENSG00000164970 ENST00000297620 Transcript 5_prime_UTR_variant 187 - - - - rs59612922 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=FAM219A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19920;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs59612922 9:34458384 A ENSG00000164970 ENST00000379078 Transcript 5_prime_UTR_variant 169 - - - - rs59612922 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=FAM219A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19920;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs59612922 9:34458384 A ENSG00000164970 ENST00000379080 Transcript 5_prime_UTR_variant 169 - - - - rs59612922 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=FAM219A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19920;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs59612922 9:34458384 A ENSG00000164970 ENST00000379081 Transcript 5_prime_UTR_variant 169 - - - - rs59612922 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=FAM219A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19920;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs59612922 9:34458384 A ENSG00000164970 ENST00000379084 Transcript 5_prime_UTR_variant 169 - - - - rs59612922 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=FAM219A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19920;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs59612922 9:34458384 A ENSG00000164970 ENST00000379087 Transcript 5_prime_UTR_variant 169 - - - - rs59612922 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=FAM219A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19920;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs59612922 9:34458384 A ENSG00000164970 ENST00000379089 Transcript 5_prime_UTR_variant 169 - - - - rs59612922 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=FAM219A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19920;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs59612922 9:34458384 A ENSG00000164970 ENST00000422409 Transcript 5_prime_UTR_variant 169 - - - - rs59612922 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;FLAGS=cds_end_NF;SYMBOL=FAM219A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19920;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs59612922 9:34458384 A ENSG00000122735 ENST00000437363 Transcript upstream_gene_variant - - - - - rs59612922 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=451;STRAND=1;FLAGS=cds_end_NF;SYMBOL=DNAI1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2954;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs59612922 9:34458384 A ENSG00000164970 ENST00000445726 Transcript 5_prime_UTR_variant 187 - - - - rs59612922 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=FAM219A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19920;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs59612922 9:34458384 A ENSG00000122735 ENST00000470982 Transcript intron_variant,non_coding_transcript_variant - - - - - rs59612922 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=DNAI1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2954;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs59612922 9:34458384 A ENSG00000122735 ENST00000614641 Transcript upstream_gene_variant - - - - - rs59612922 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=368;STRAND=1;SYMBOL=DNAI1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2954;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs59612922 9:34458384 A ENSG00000164970 ENST00000651358 Transcript 5_prime_UTR_variant 187 - - - - rs59612922 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=FAM219A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19920;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs183927691 9:34462671 C ENSG00000122735 ENST00000242317 Transcript intron_variant - - - - - rs183927691 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=DNAI1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2954;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs183927691 9:34462671 C ENSG00000164970 ENST00000297620 Transcript upstream_gene_variant - - - - - rs183927691 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=4101;STRAND=-1;SYMBOL=FAM219A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19920;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs183927691 9:34462671 C ENSG00000164970 ENST00000379078 Transcript upstream_gene_variant - - - - - rs183927691 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=4119;STRAND=-1;SYMBOL=FAM219A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19920;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs183927691 9:34462671 C ENSG00000164970 ENST00000379080 Transcript upstream_gene_variant - - - - - rs183927691 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=4119;STRAND=-1;SYMBOL=FAM219A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19920;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs183927691 9:34462671 C ENSG00000164970 ENST00000379081 Transcript upstream_gene_variant - - - - - rs183927691 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=4119;STRAND=-1;SYMBOL=FAM219A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19920;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs183927691 9:34462671 C ENSG00000164970 ENST00000379084 Transcript upstream_gene_variant - - - - - rs183927691 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=4119;STRAND=-1;SYMBOL=FAM219A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19920;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs183927691 9:34462671 C ENSG00000164970 ENST00000379087 Transcript upstream_gene_variant - - - - - rs183927691 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=4119;STRAND=-1;SYMBOL=FAM219A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19920;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs183927691 9:34462671 C ENSG00000164970 ENST00000379089 Transcript upstream_gene_variant - - - - - rs183927691 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=4119;STRAND=-1;SYMBOL=FAM219A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19920;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs183927691 9:34462671 C ENSG00000164970 ENST00000422409 Transcript upstream_gene_variant - - - - - rs183927691 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=4119;STRAND=-1;FLAGS=cds_end_NF;SYMBOL=FAM219A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19920;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs183927691 9:34462671 C ENSG00000122735 ENST00000437363 Transcript intron_variant - - - - - rs183927691 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_end_NF;SYMBOL=DNAI1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2954;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs183927691 9:34462671 C ENSG00000164970 ENST00000445726 Transcript upstream_gene_variant - - - - - rs183927691 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=4101;STRAND=-1;SYMBOL=FAM219A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19920;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs183927691 9:34462671 C ENSG00000122735 ENST00000470982 Transcript intron_variant,non_coding_transcript_variant - - - - - rs183927691 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=DNAI1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2954;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs183927691 9:34462671 C ENSG00000122735 ENST00000614641 Transcript intron_variant - - - - - rs183927691 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=DNAI1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2954;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs183927691 9:34462671 C ENSG00000164970 ENST00000651358 Transcript upstream_gene_variant - - - - - rs183927691 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=4101;STRAND=-1;SYMBOL=FAM219A;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19920;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs536432028 9:34463603 T ENSG00000122735 ENST00000242317 Transcript intron_variant - - - - - rs536432028 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=DNAI1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2954;AF=0.0004;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.002;SAS_AF=0 rs536432028 9:34463603 T ENSG00000122735 ENST00000437363 Transcript intron_variant - - - - - rs536432028 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_end_NF;SYMBOL=DNAI1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2954;AF=0.0004;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.002;SAS_AF=0 rs536432028 9:34463603 T ENSG00000122735 ENST00000470982 Transcript intron_variant,non_coding_transcript_variant - - - - - rs536432028 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=DNAI1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2954;AF=0.0004;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.002;SAS_AF=0 rs536432028 9:34463603 T ENSG00000122735 ENST00000614641 Transcript intron_variant - - - - - rs536432028 IND=P1;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=DNAI1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2954;AF=0.0004;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.002;SAS_AF=0 rs557277803 9:34472868 T ENSG00000122735 ENST00000242317 Transcript intron_variant - - - - - rs557277803 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=DNAI1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2954;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs557277803 9:34472868 T ENSG00000122735 ENST00000437363 Transcript intron_variant - - - - - rs557277803 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_end_NF;SYMBOL=DNAI1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2954;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs557277803 9:34472868 T ENSG00000122735 ENST00000470982 Transcript intron_variant,non_coding_transcript_variant - - - - - rs557277803 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=DNAI1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2954;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs557277803 9:34472868 T ENSG00000122735 ENST00000614641 Transcript intron_variant - - - - - rs557277803 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=DNAI1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2954;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs573618610 9:34485389 T ENSG00000122735 ENST00000242317 Transcript intron_variant - - - - - rs573618610 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=DNAI1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2954;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001;gnomAD_AF=4.023e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=3.297e-05 rs573618610 9:34485389 T ENSG00000122735 ENST00000437363 Transcript intron_variant - - - - - rs573618610 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_end_NF;SYMBOL=DNAI1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2954;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001;gnomAD_AF=4.023e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=3.297e-05 rs573618610 9:34485389 T ENSG00000122735 ENST00000470982 Transcript intron_variant,non_coding_transcript_variant - - - - - rs573618610 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=DNAI1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2954;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001;gnomAD_AF=4.023e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=3.297e-05 rs573618610 9:34485389 T ENSG00000122735 ENST00000488369 Transcript intron_variant,non_coding_transcript_variant - - - - - rs573618610 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=DNAI1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2954;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001;gnomAD_AF=4.023e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=3.297e-05 rs573618610 9:34485389 T ENSG00000122735 ENST00000614641 Transcript intron_variant - - - - - rs573618610 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=DNAI1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2954;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001;gnomAD_AF=4.023e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=3.297e-05 rs555419765 9:34490244 T ENSG00000122735 ENST00000242317 Transcript intron_variant - - - - - rs555419765 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=DNAI1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2954;AF=0.0006;AFR_AF=0;AMR_AF=0;EAS_AF=0.002;EUR_AF=0;SAS_AF=0.001 rs555419765 9:34490244 T ENSG00000122735 ENST00000437363 Transcript intron_variant - - - - - rs555419765 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_end_NF;SYMBOL=DNAI1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2954;AF=0.0006;AFR_AF=0;AMR_AF=0;EAS_AF=0.002;EUR_AF=0;SAS_AF=0.001 rs555419765 9:34490244 T ENSG00000122735 ENST00000470982 Transcript downstream_gene_variant - - - - - rs555419765 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1707;STRAND=1;SYMBOL=DNAI1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2954;AF=0.0006;AFR_AF=0;AMR_AF=0;EAS_AF=0.002;EUR_AF=0;SAS_AF=0.001 rs555419765 9:34490244 T ENSG00000122735 ENST00000488369 Transcript intron_variant,non_coding_transcript_variant - - - - - rs555419765 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=DNAI1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2954;AF=0.0006;AFR_AF=0;AMR_AF=0;EAS_AF=0.002;EUR_AF=0;SAS_AF=0.001 rs555419765 9:34490244 T ENSG00000122735 ENST00000488790 Transcript upstream_gene_variant - - - - - rs555419765 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1099;STRAND=1;SYMBOL=DNAI1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2954;AF=0.0006;AFR_AF=0;AMR_AF=0;EAS_AF=0.002;EUR_AF=0;SAS_AF=0.001 rs555419765 9:34490244 T ENSG00000122735 ENST00000614641 Transcript intron_variant - - - - - rs555419765 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=DNAI1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2954;AF=0.0006;AFR_AF=0;AMR_AF=0;EAS_AF=0.002;EUR_AF=0;SAS_AF=0.001 rs569943034 9:34491095 T ENSG00000122735 ENST00000242317 Transcript intron_variant - - - - - rs569943034 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=DNAI1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2954;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs569943034 9:34491095 T ENSG00000122735 ENST00000437363 Transcript intron_variant - - - - - rs569943034 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_end_NF;SYMBOL=DNAI1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2954;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs569943034 9:34491095 T ENSG00000122735 ENST00000470982 Transcript downstream_gene_variant - - - - - rs569943034 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2558;STRAND=1;SYMBOL=DNAI1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2954;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs569943034 9:34491095 T ENSG00000122735 ENST00000488369 Transcript intron_variant,non_coding_transcript_variant - - - - - rs569943034 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=DNAI1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2954;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs569943034 9:34491095 T ENSG00000122735 ENST00000488790 Transcript upstream_gene_variant - - - - - rs569943034 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=248;STRAND=1;SYMBOL=DNAI1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2954;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs569943034 9:34491095 T ENSG00000122735 ENST00000614641 Transcript intron_variant - - - - - rs569943034 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=DNAI1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2954;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs575062607 9:34495887 T ENSG00000122735 ENST00000242317 Transcript intron_variant - - - - - rs575062607 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=DNAI1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2954;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs575062607 9:34495887 T ENSG00000122735 ENST00000437363 Transcript intron_variant - - - - - rs575062607 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_end_NF;SYMBOL=DNAI1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2954;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs575062607 9:34495887 T ENSG00000122735 ENST00000488369 Transcript downstream_gene_variant - - - - - rs575062607 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2559;STRAND=1;SYMBOL=DNAI1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2954;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs575062607 9:34495887 T ENSG00000122735 ENST00000488790 Transcript downstream_gene_variant - - - - - rs575062607 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2666;STRAND=1;SYMBOL=DNAI1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2954;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs575062607 9:34495887 T ENSG00000122735 ENST00000614641 Transcript intron_variant - - - - - rs575062607 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=DNAI1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2954;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs116347130 9:34499124 C ENSG00000122735 ENST00000242317 Transcript intron_variant - - - - - rs116347130 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=DNAI1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2954;AF=0.0016;AFR_AF=0.0061;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs116347130 9:34499124 C ENSG00000122735 ENST00000437363 Transcript downstream_gene_variant - - - - - rs116347130 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=1925;STRAND=1;FLAGS=cds_end_NF;SYMBOL=DNAI1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2954;AF=0.0016;AFR_AF=0.0061;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs116347130 9:34499124 C ENSG00000122735 ENST00000614641 Transcript intron_variant - - - - - rs116347130 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=DNAI1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2954;AF=0.0016;AFR_AF=0.0061;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs115137163 9:34499379 T ENSG00000122735 ENST00000242317 Transcript intron_variant - - - - - rs115137163 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=DNAI1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2954;AF=0.0028;AFR_AF=0.0106;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs115137163 9:34499379 T ENSG00000122735 ENST00000437363 Transcript downstream_gene_variant - - - - - rs115137163 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2180;STRAND=1;FLAGS=cds_end_NF;SYMBOL=DNAI1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2954;AF=0.0028;AFR_AF=0.0106;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs115137163 9:34499379 T ENSG00000122735 ENST00000614641 Transcript intron_variant - - - - - rs115137163 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=DNAI1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2954;AF=0.0028;AFR_AF=0.0106;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs184087677 9:34504815 T ENSG00000122735 ENST00000242317 Transcript intron_variant - - - - - rs184087677 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=DNAI1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2954;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs184087677 9:34504815 T ENSG00000122735 ENST00000470169 Transcript upstream_gene_variant - - - - - rs184087677 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1812;STRAND=1;FLAGS=cds_start_NF;SYMBOL=DNAI1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2954;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs184087677 9:34504815 T ENSG00000122735 ENST00000614641 Transcript intron_variant - - - - - rs184087677 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=DNAI1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2954;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs572793830 9:34510718 G ENSG00000122735 ENST00000242317 Transcript intron_variant - - - - - rs572793830 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=DNAI1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2954;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs572793830 9:34510718 G ENSG00000122735 ENST00000442556 Transcript upstream_gene_variant - - - - - rs572793830 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=2394;STRAND=1;FLAGS=cds_start_NF;SYMBOL=DNAI1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2954;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs572793830 9:34510718 G ENSG00000122735 ENST00000470169 Transcript intron_variant,NMD_transcript_variant - - - - - rs572793830 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_start_NF;SYMBOL=DNAI1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2954;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs572793830 9:34510718 G ENSG00000122735 ENST00000485580 Transcript upstream_gene_variant - - - - - rs572793830 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=2426;STRAND=1;SYMBOL=DNAI1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2954;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs572793830 9:34510718 G ENSG00000122735 ENST00000614641 Transcript intron_variant - - - - - rs572793830 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=DNAI1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2954;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs187177043 9:34511971 G ENSG00000122735 ENST00000242317 Transcript intron_variant - - - - - rs187177043 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=DNAI1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2954;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs187177043 9:34511971 G ENSG00000122735 ENST00000442556 Transcript upstream_gene_variant - - - - - rs187177043 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1141;STRAND=1;FLAGS=cds_start_NF;SYMBOL=DNAI1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2954;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs187177043 9:34511971 G ENSG00000122735 ENST00000470169 Transcript intron_variant,NMD_transcript_variant - - - - - rs187177043 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_start_NF;SYMBOL=DNAI1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2954;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs187177043 9:34511971 G ENSG00000122735 ENST00000485580 Transcript upstream_gene_variant - - - - - rs187177043 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1173;STRAND=1;SYMBOL=DNAI1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2954;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs187177043 9:34511971 G ENSG00000122735 ENST00000614641 Transcript intron_variant - - - - - rs187177043 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=DNAI1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2954;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs528168254 9:34515791 C ENSG00000122735 ENST00000242317 Transcript intron_variant - - - - - rs528168254 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=DNAI1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2954;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs528168254 9:34515791 C ENSG00000122735 ENST00000442556 Transcript intron_variant - - - - - rs528168254 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_start_NF;SYMBOL=DNAI1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2954;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs528168254 9:34515791 C ENSG00000122735 ENST00000470169 Transcript intron_variant,NMD_transcript_variant - - - - - rs528168254 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;FLAGS=cds_start_NF;SYMBOL=DNAI1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2954;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs528168254 9:34515791 C ENSG00000122735 ENST00000485580 Transcript intron_variant,non_coding_transcript_variant - - - - - rs528168254 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=DNAI1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2954;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs528168254 9:34515791 C ENSG00000122735 ENST00000614641 Transcript intron_variant - - - - - rs528168254 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=DNAI1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2954;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs570834731 9:135522425 G ENSG00000160349 ENST00000263598 Transcript intron_variant - - - - - rs570834731 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=LCN1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6525;AF=0.0010;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.0051 rs570834731 9:135522425 G ENSG00000160349 ENST00000371781 Transcript intron_variant - - - - - rs570834731 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=LCN1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6525;AF=0.0010;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.0051 rs530307741 9:135522600 T ENSG00000160349 ENST00000263598 Transcript intron_variant - - - - - rs530307741 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=LCN1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6525;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs530307741 9:135522600 T ENSG00000160349 ENST00000371781 Transcript intron_variant - - - - - rs530307741 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=LCN1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6525;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs113630740 9:135522871 C ENSG00000160349 ENST00000263598 Transcript intron_variant - - - - - rs113630740 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=LCN1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6525;AF=0.0992;AFR_AF=0.3616;AMR_AF=0.0216;EAS_AF=0.002;EUR_AF=0.001;SAS_AF=0.001 rs113630740 9:135522871 C ENSG00000160349 ENST00000371781 Transcript intron_variant - - - - - rs113630740 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=LCN1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6525;AF=0.0992;AFR_AF=0.3616;AMR_AF=0.0216;EAS_AF=0.002;EUR_AF=0.001;SAS_AF=0.001 rs551600135 9:135523786 T ENSG00000160349 ENST00000263598 Transcript intron_variant - - - - - rs551600135 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=LCN1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6525;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001 rs551600135 9:135523786 T ENSG00000160349 ENST00000371781 Transcript intron_variant - - - - - rs551600135 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=LCN1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6525;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.001 rs143570737 9:135523950 T ENSG00000160349 ENST00000263598 Transcript synonymous_variant 423 363 121 G ggC/ggT rs143570737,COSV55017881 IND=P3;ZYG=HET;IMPACT=LOW;STRAND=1;SYMBOL=LCN1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6525;AF=0.0020;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.0099;SAS_AF=0;gnomAD_AF=0.0063;gnomAD_AFR_AF=6.158e-05;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0.0002978;gnomAD_EAS_AF=0.0003263;gnomAD_FIN_AF=0.06153;gnomAD_NFE_AF=0.001857;gnomAD_OTH_AF=0.004891;gnomAD_SAS_AF=3.266e-05;SOMATIC=0,1;PHENO=0,1 rs143570737 9:135523950 T ENSG00000160349 ENST00000371781 Transcript synonymous_variant 421 363 121 G ggC/ggT rs143570737,COSV55017881 IND=P3;ZYG=HET;IMPACT=LOW;STRAND=1;SYMBOL=LCN1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6525;AF=0.0020;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.0099;SAS_AF=0;gnomAD_AF=0.0063;gnomAD_AFR_AF=6.158e-05;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0.0002978;gnomAD_EAS_AF=0.0003263;gnomAD_FIN_AF=0.06153;gnomAD_NFE_AF=0.001857;gnomAD_OTH_AF=0.004891;gnomAD_SAS_AF=3.266e-05;SOMATIC=0,1;PHENO=0,1 rs563809550 9:135523974 T ENSG00000160349 ENST00000263598 Transcript synonymous_variant 447 387 129 R cgA/cgT rs563809550 IND=P1;ZYG=HOM;IMPACT=LOW;STRAND=1;SYMBOL=LCN1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6525;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0;gnomAD_AF=1.194e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0.0001632;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs563809550 9:135523974 T ENSG00000160349 ENST00000371781 Transcript synonymous_variant 445 387 129 R cgA/cgT rs563809550 IND=P1;ZYG=HOM;IMPACT=LOW;STRAND=1;SYMBOL=LCN1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6525;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0;gnomAD_AF=1.194e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0.0001632;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs571193018 9:135524099 A ENSG00000160349 ENST00000263598 Transcript intron_variant - - - - - rs571193018 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=LCN1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6525;AF=0.0006;AFR_AF=0.0015;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs571193018 9:135524099 A ENSG00000160349 ENST00000371781 Transcript intron_variant - - - - - rs571193018 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=LCN1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6525;AF=0.0006;AFR_AF=0.0015;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs535427092 9:135524121 T ENSG00000160349 ENST00000263598 Transcript intron_variant - - - - - rs535427092 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=LCN1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6525;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs535427092 9:135524121 T ENSG00000160349 ENST00000371781 Transcript intron_variant - - - - - rs535427092 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=LCN1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6525;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs369599589 9:135524501 A ENSG00000160349 ENST00000263598 Transcript intron_variant - - - - - rs369599589 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=LCN1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6525;AF=0.0008;AFR_AF=0;AMR_AF=0;EAS_AF=0.004;EUR_AF=0;SAS_AF=0 rs369599589 9:135524501 A ENSG00000160349 ENST00000371781 Transcript intron_variant - - - - - rs369599589 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=LCN1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6525;AF=0.0008;AFR_AF=0;AMR_AF=0;EAS_AF=0.004;EUR_AF=0;SAS_AF=0 rs59238865 9:135524568 A ENSG00000160349 ENST00000263598 Transcript intron_variant - - - - - rs59238865 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=LCN1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6525;AF=0.0477;AFR_AF=0.0915;AMR_AF=0.0504;EAS_AF=0.001;EUR_AF=0.0666;SAS_AF=0.0153 rs59238865 9:135524568 A ENSG00000160349 ENST00000371781 Transcript intron_variant - - - - - rs59238865 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=LCN1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6525;AF=0.0477;AFR_AF=0.0915;AMR_AF=0.0504;EAS_AF=0.001;EUR_AF=0.0666;SAS_AF=0.0153 rs201982610 9:135524969 A ENSG00000160349 ENST00000263598 Transcript intron_variant - - - - - rs201982610 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=LCN1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6525;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0;gnomAD_AF=0.0007291;gnomAD_AFR_AF=0.0001399;gnomAD_AMR_AF=0.0003181;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=4.833e-05;gnomAD_NFE_AF=0.001441;gnomAD_OTH_AF=0.0007077;gnomAD_SAS_AF=0.0001394 rs201982610 9:135524969 A ENSG00000160349 ENST00000371781 Transcript intron_variant - - - - - rs201982610 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=LCN1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6525;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0;gnomAD_AF=0.0007291;gnomAD_AFR_AF=0.0001399;gnomAD_AMR_AF=0.0003181;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=4.833e-05;gnomAD_NFE_AF=0.001441;gnomAD_OTH_AF=0.0007077;gnomAD_SAS_AF=0.0001394 rs73560977 9:135525320 A ENSG00000160349 ENST00000263598 Transcript intron_variant - - - - - rs73560977 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=LCN1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6525;AF=0.1170;AFR_AF=0.3185;AMR_AF=0.0951;EAS_AF=0.0069;EUR_AF=0.0169;SAS_AF=0.0767 rs73560977 9:135525320 A ENSG00000160349 ENST00000371781 Transcript intron_variant - - - - - rs73560977 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=LCN1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6525;AF=0.1170;AFR_AF=0.3185;AMR_AF=0.0951;EAS_AF=0.0069;EUR_AF=0.0169;SAS_AF=0.0767 rs111794576 9:135525671 T ENSG00000160349 ENST00000263598 Transcript intron_variant - - - - - rs111794576 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=LCN1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6525;AF=0.0008;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.0041 rs111794576 9:135525671 T ENSG00000160349 ENST00000371781 Transcript intron_variant - - - - - rs111794576 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=LCN1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6525;AF=0.0008;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.0041 rs115665996 9:135526127 A ENSG00000160349 ENST00000263598 Transcript intron_variant - - - - - rs115665996 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=LCN1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6525;AF=0.0214;AFR_AF=0.0779;AMR_AF=0.0043;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs115665996 9:135526127 A ENSG00000160349 ENST00000371781 Transcript intron_variant - - - - - rs115665996 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=LCN1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6525;AF=0.0214;AFR_AF=0.0779;AMR_AF=0.0043;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs566730741 9:135526518 G ENSG00000160349 ENST00000263598 Transcript 3_prime_UTR_variant 762 - - - - rs566730741 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=LCN1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6525;AF=0.0006;AFR_AF=0.0023;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=0.0001322;gnomAD_AFR_AF=0.002383;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs566730741 9:135526518 G ENSG00000160349 ENST00000371781 Transcript 3_prime_UTR_variant 765 - - - - rs566730741 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=LCN1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6525;AF=0.0006;AFR_AF=0.0023;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=0.0001322;gnomAD_AFR_AF=0.002383;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs557091094 9:136328246 A ENSG00000160360 ENST00000354753 Transcript upstream_gene_variant - - - - - rs557091094 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=3737;STRAND=1;SYMBOL=GPSM1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17858;AF=0.0014;AFR_AF=0;AMR_AF=0;EAS_AF=0.006;EUR_AF=0.001;SAS_AF=0 rs557091094 9:136328246 A ENSG00000160360 ENST00000440944 Transcript intron_variant - - - - - rs557091094 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=GPSM1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17858;AF=0.0014;AFR_AF=0;AMR_AF=0;EAS_AF=0.006;EUR_AF=0.001;SAS_AF=0 rs557091094 9:136328246 A ENSG00000262075 ENST00000573103 Transcript upstream_gene_variant - - - - - rs557091094 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=923;STRAND=-1;SYMBOL=DKFZP434A062;SYMBOL_SOURCE=EntrezGene;AF=0.0014;AFR_AF=0;AMR_AF=0;EAS_AF=0.006;EUR_AF=0.001;SAS_AF=0 rs557091094 9:136328246 A ENSG00000262075 ENST00000601276 Transcript upstream_gene_variant - - - - - rs557091094 IND=P2;ZYG=HET;IMPACT=MODIFIER;DISTANCE=3028;STRAND=-1;SYMBOL=DKFZP434A062;SYMBOL_SOURCE=EntrezGene;AF=0.0014;AFR_AF=0;AMR_AF=0;EAS_AF=0.006;EUR_AF=0.001;SAS_AF=0 rs557091094 9:136328246 A ENSG00000160360 ENST00000616132 Transcript intron_variant - - - - - rs557091094 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=GPSM1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17858;AF=0.0014;AFR_AF=0;AMR_AF=0;EAS_AF=0.006;EUR_AF=0.001;SAS_AF=0 rs571541173 9:136332765 T ENSG00000160360 ENST00000354753 Transcript intron_variant - - - - - rs571541173 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=GPSM1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17858;AF=0.0004;AFR_AF=0.0015;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs571541173 9:136332765 T ENSG00000160360 ENST00000440944 Transcript intron_variant - - - - - rs571541173 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=GPSM1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17858;AF=0.0004;AFR_AF=0.0015;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs571541173 9:136332765 T ENSG00000160360 ENST00000616132 Transcript intron_variant - - - - - rs571541173 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=GPSM1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17858;AF=0.0004;AFR_AF=0.0015;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs77874192 9:136335007 C ENSG00000160360 ENST00000354753 Transcript intron_variant - - - - - rs77874192 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=GPSM1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17858;AF=0.0088;AFR_AF=0.0325;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs77874192 9:136335007 C ENSG00000160360 ENST00000440944 Transcript intron_variant - - - - - rs77874192 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=GPSM1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17858;AF=0.0088;AFR_AF=0.0325;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs77874192 9:136335007 C ENSG00000160360 ENST00000616132 Transcript intron_variant - - - - - rs77874192 IND=P2;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=GPSM1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17858;AF=0.0088;AFR_AF=0.0325;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs190129514 9:136338362 A ENSG00000160360 ENST00000354753 Transcript intron_variant - - - - - rs190129514 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=GPSM1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17858;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs190129514 9:136338362 A ENSG00000160360 ENST00000440944 Transcript intron_variant - - - - - rs190129514 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=GPSM1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17858;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs190129514 9:136338362 A ENSG00000160360 ENST00000616132 Transcript intron_variant - - - - - rs190129514 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=GPSM1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17858;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0 rs372337728 9:136338705 T ENSG00000160360 ENST00000354753 Transcript synonymous_variant 1089 1065 355 A gcC/gcT rs372337728,COSV61303436 IND=P2;ZYG=HET;IMPACT=LOW;STRAND=1;SYMBOL=GPSM1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17858;AF=0.0008;AFR_AF=0.003;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=7.727e-05;gnomAD_AFR_AF=0.001224;gnomAD_AMR_AF=4.009e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs372337728 9:136338705 T ENSG00000160360 ENST00000440944 Transcript synonymous_variant 1126 969 323 A gcC/gcT rs372337728,COSV61303436 IND=P2;ZYG=HET;IMPACT=LOW;STRAND=1;SYMBOL=GPSM1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17858;AF=0.0008;AFR_AF=0.003;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=7.727e-05;gnomAD_AFR_AF=0.001224;gnomAD_AMR_AF=4.009e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs372337728 9:136338705 T ENSG00000160360 ENST00000616132 Transcript synonymous_variant 1189 969 323 A gcC/gcT rs372337728,COSV61303436 IND=P2;ZYG=HET;IMPACT=LOW;STRAND=1;SYMBOL=GPSM1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17858;AF=0.0008;AFR_AF=0.003;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=7.727e-05;gnomAD_AFR_AF=0.001224;gnomAD_AMR_AF=4.009e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs372337728 9:136338705 T ENSG00000160360 ENST00000354753 Transcript synonymous_variant 1089 1065 355 A gcC/gcT rs372337728,COSV61303436 IND=P3;ZYG=HOM;IMPACT=LOW;STRAND=1;SYMBOL=GPSM1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17858;AF=0.0008;AFR_AF=0.003;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=7.727e-05;gnomAD_AFR_AF=0.001224;gnomAD_AMR_AF=4.009e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs372337728 9:136338705 T ENSG00000160360 ENST00000440944 Transcript synonymous_variant 1126 969 323 A gcC/gcT rs372337728,COSV61303436 IND=P3;ZYG=HOM;IMPACT=LOW;STRAND=1;SYMBOL=GPSM1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17858;AF=0.0008;AFR_AF=0.003;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=7.727e-05;gnomAD_AFR_AF=0.001224;gnomAD_AMR_AF=4.009e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs372337728 9:136338705 T ENSG00000160360 ENST00000616132 Transcript synonymous_variant 1189 969 323 A gcC/gcT rs372337728,COSV61303436 IND=P3;ZYG=HOM;IMPACT=LOW;STRAND=1;SYMBOL=GPSM1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17858;AF=0.0008;AFR_AF=0.003;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=7.727e-05;gnomAD_AFR_AF=0.001224;gnomAD_AMR_AF=4.009e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs116050919 9:136339015 T ENSG00000160360 ENST00000354753 Transcript intron_variant - - - - - rs116050919 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=GPSM1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17858;AF=0.0064;AFR_AF=0.0212;AMR_AF=0.0043;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs116050919 9:136339015 T ENSG00000160360 ENST00000440944 Transcript intron_variant - - - - - rs116050919 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=GPSM1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17858;AF=0.0064;AFR_AF=0.0212;AMR_AF=0.0043;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs116050919 9:136339015 T ENSG00000160360 ENST00000616132 Transcript intron_variant - - - - - rs116050919 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=GPSM1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17858;AF=0.0064;AFR_AF=0.0212;AMR_AF=0.0043;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs149918997 9:136344982 A ENSG00000160360 ENST00000354753 Transcript intron_variant - - - - - rs149918997 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=GPSM1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17858;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs149918997 9:136344982 A ENSG00000160360 ENST00000440944 Transcript intron_variant - - - - - rs149918997 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=GPSM1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17858;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs149918997 9:136344982 A ENSG00000160360 ENST00000616132 Transcript downstream_gene_variant - - - - - rs149918997 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=3146;STRAND=1;SYMBOL=GPSM1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17858;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0.001;SAS_AF=0 rs529143958 9:136348895 A ENSG00000160360 ENST00000354753 Transcript intron_variant - - - - - rs529143958 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=GPSM1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17858;AF=0.0020;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.0102 rs529143958 9:136348895 A ENSG00000160360 ENST00000429455 Transcript upstream_gene_variant - - - - - rs529143958 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=4162;STRAND=1;SYMBOL=GPSM1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17858;AF=0.0020;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.0102 rs529143958 9:136348895 A ENSG00000160360 ENST00000440944 Transcript intron_variant - - - - - rs529143958 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=GPSM1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17858;AF=0.0020;AFR_AF=0;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0.0102 rs369862356 9:136349557 T ENSG00000160360 ENST00000354753 Transcript intron_variant - - - - - rs369862356 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=GPSM1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17858;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=0.0001441;gnomAD_AFR_AF=0.002338;gnomAD_AMR_AF=8.479e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=4.549e-05 rs369862356 9:136349557 T ENSG00000160360 ENST00000429455 Transcript upstream_gene_variant - - - - - rs369862356 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=3500;STRAND=1;SYMBOL=GPSM1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17858;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=0.0001441;gnomAD_AFR_AF=0.002338;gnomAD_AMR_AF=8.479e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=4.549e-05 rs369862356 9:136349557 T ENSG00000160360 ENST00000440944 Transcript intron_variant - - - - - rs369862356 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=GPSM1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17858;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=0.0001441;gnomAD_AFR_AF=0.002338;gnomAD_AMR_AF=8.479e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=4.549e-05 rs565340854 9:136351726 T ENSG00000160360 ENST00000291775 Transcript upstream_gene_variant - - - - - rs565340854 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=3804;STRAND=1;SYMBOL=GPSM1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17858;AF=0.0006;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0.002;SAS_AF=0 rs565340854 9:136351726 T ENSG00000160360 ENST00000354753 Transcript intron_variant - - - - - rs565340854 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=GPSM1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17858;AF=0.0006;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0.002;SAS_AF=0 rs565340854 9:136351726 T ENSG00000160360 ENST00000392944 Transcript upstream_gene_variant - - - - - rs565340854 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=3082;STRAND=1;SYMBOL=GPSM1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17858;AF=0.0006;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0.002;SAS_AF=0 rs565340854 9:136351726 T ENSG00000160360 ENST00000429455 Transcript upstream_gene_variant - - - - - rs565340854 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1331;STRAND=1;SYMBOL=GPSM1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17858;AF=0.0006;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0.002;SAS_AF=0 rs565340854 9:136351726 T ENSG00000160360 ENST00000440944 Transcript intron_variant - - - - - rs565340854 IND=P1;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=GPSM1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17858;AF=0.0006;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0.002;SAS_AF=0 rs541367679 9:136355078 T ENSG00000160360 ENST00000291775 Transcript upstream_gene_variant - - - - - rs541367679 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=452;STRAND=1;SYMBOL=GPSM1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17858;AF=0.0014;AFR_AF=0.0053;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs541367679 9:136355078 T ENSG00000160360 ENST00000354753 Transcript intron_variant - - - - - rs541367679 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=GPSM1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17858;AF=0.0014;AFR_AF=0.0053;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs541367679 9:136355078 T ENSG00000213221 ENST00000371738 Transcript downstream_gene_variant - - - - - rs541367679 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=4405;STRAND=-1;SYMBOL=DNLZ;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:33879;AF=0.0014;AFR_AF=0.0053;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs541367679 9:136355078 T ENSG00000213221 ENST00000371739 Transcript downstream_gene_variant - - - - - rs541367679 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=4402;STRAND=-1;SYMBOL=DNLZ;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:33879;AF=0.0014;AFR_AF=0.0053;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs541367679 9:136355078 T ENSG00000160360 ENST00000392944 Transcript intron_variant - - - - - rs541367679 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=GPSM1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17858;AF=0.0014;AFR_AF=0.0053;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs541367679 9:136355078 T ENSG00000160360 ENST00000429455 Transcript intron_variant - - - - - rs541367679 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=GPSM1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17858;AF=0.0014;AFR_AF=0.0053;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs541367679 9:136355078 T ENSG00000160360 ENST00000440944 Transcript intron_variant - - - - - rs541367679 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=GPSM1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17858;AF=0.0014;AFR_AF=0.0053;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs146369009 9:136355817 T ENSG00000160360 ENST00000291775 Transcript missense_variant 288 56 19 T/M aCg/aTg rs146369009 IND=P1;ZYG=HET;IMPACT=MODERATE;STRAND=1;SYMBOL=GPSM1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17858;SIFT=deleterious(0.04);PolyPhen=possibly_damaging(0.502);AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=0.0001347;gnomAD_AFR_AF=0.001494;gnomAD_AMR_AF=0.0001169;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=2.738e-05;gnomAD_OTH_AF=0.0001676;gnomAD_SAS_AF=6.562e-05 rs146369009 9:136355817 T ENSG00000160360 ENST00000354753 Transcript missense_variant 1703 1679 560 T/M aCg/aTg rs146369009 IND=P1;ZYG=HET;IMPACT=MODERATE;STRAND=1;SYMBOL=GPSM1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17858;SIFT=deleterious(0.05);PolyPhen=benign(0.143);AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=0.0001347;gnomAD_AFR_AF=0.001494;gnomAD_AMR_AF=0.0001169;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=2.738e-05;gnomAD_OTH_AF=0.0001676;gnomAD_SAS_AF=6.562e-05 rs146369009 9:136355817 T ENSG00000213221 ENST00000371738 Transcript downstream_gene_variant - - - - - rs146369009 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=3666;STRAND=-1;SYMBOL=DNLZ;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:33879;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=0.0001347;gnomAD_AFR_AF=0.001494;gnomAD_AMR_AF=0.0001169;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=2.738e-05;gnomAD_OTH_AF=0.0001676;gnomAD_SAS_AF=6.562e-05 rs146369009 9:136355817 T ENSG00000213221 ENST00000371739 Transcript downstream_gene_variant - - - - - rs146369009 IND=P1;ZYG=HET;IMPACT=MODIFIER;DISTANCE=3663;STRAND=-1;SYMBOL=DNLZ;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:33879;AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=0.0001347;gnomAD_AFR_AF=0.001494;gnomAD_AMR_AF=0.0001169;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=2.738e-05;gnomAD_OTH_AF=0.0001676;gnomAD_SAS_AF=6.562e-05 rs146369009 9:136355817 T ENSG00000160360 ENST00000392944 Transcript missense_variant 343 56 19 T/M aCg/aTg rs146369009 IND=P1;ZYG=HET;IMPACT=MODERATE;STRAND=1;SYMBOL=GPSM1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17858;SIFT=deleterious(0.04);PolyPhen=possibly_damaging(0.502);AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=0.0001347;gnomAD_AFR_AF=0.001494;gnomAD_AMR_AF=0.0001169;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=2.738e-05;gnomAD_OTH_AF=0.0001676;gnomAD_SAS_AF=6.562e-05 rs146369009 9:136355817 T ENSG00000160360 ENST00000429455 Transcript missense_variant 227 56 19 T/M aCg/aTg rs146369009 IND=P1;ZYG=HET;IMPACT=MODERATE;STRAND=1;SYMBOL=GPSM1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17858;SIFT=deleterious(0.04);PolyPhen=possibly_damaging(0.502);AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=0.0001347;gnomAD_AFR_AF=0.001494;gnomAD_AMR_AF=0.0001169;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=2.738e-05;gnomAD_OTH_AF=0.0001676;gnomAD_SAS_AF=6.562e-05 rs146369009 9:136355817 T ENSG00000160360 ENST00000440944 Transcript missense_variant 1740 1583 528 T/M aCg/aTg rs146369009 IND=P1;ZYG=HET;IMPACT=MODERATE;STRAND=1;SYMBOL=GPSM1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17858;SIFT=tolerated(0.07);PolyPhen=benign(0.143);AF=0.0002;AFR_AF=0.0008;AMR_AF=0;EAS_AF=0;EUR_AF=0;SAS_AF=0;gnomAD_AF=0.0001347;gnomAD_AFR_AF=0.001494;gnomAD_AMR_AF=0.0001169;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=2.738e-05;gnomAD_OTH_AF=0.0001676;gnomAD_SAS_AF=6.562e-05 rs548890680 9:136356611 A ENSG00000160360 ENST00000291775 Transcript intron_variant - - - - - rs548890680,COSV52517290 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=GPSM1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17858;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs548890680 9:136356611 A ENSG00000160360 ENST00000354753 Transcript intron_variant - - - - - rs548890680,COSV52517290 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=GPSM1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17858;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs548890680 9:136356611 A ENSG00000213221 ENST00000371738 Transcript downstream_gene_variant - - - - - rs548890680,COSV52517290 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2872;STRAND=-1;SYMBOL=DNLZ;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:33879;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs548890680 9:136356611 A ENSG00000213221 ENST00000371739 Transcript downstream_gene_variant - - - - - rs548890680,COSV52517290 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=2869;STRAND=-1;SYMBOL=DNLZ;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:33879;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs548890680 9:136356611 A ENSG00000160360 ENST00000392944 Transcript intron_variant - - - - - rs548890680,COSV52517290 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=GPSM1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17858;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs548890680 9:136356611 A ENSG00000160360 ENST00000429455 Transcript intron_variant - - - - - rs548890680,COSV52517290 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=GPSM1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17858;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs548890680 9:136356611 A ENSG00000160360 ENST00000440944 Transcript intron_variant - - - - - rs548890680,COSV52517290 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=1;SYMBOL=GPSM1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17858;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0;SOMATIC=0,1;PHENO=0,1 rs555520169 9:136357895 A ENSG00000160360 ENST00000291775 Transcript intron_variant - - - - - rs555520169 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=GPSM1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17858;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs555520169 9:136357895 A ENSG00000160360 ENST00000354753 Transcript intron_variant - - - - - rs555520169 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=GPSM1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17858;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs555520169 9:136357895 A ENSG00000213221 ENST00000371738 Transcript downstream_gene_variant - - - - - rs555520169 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=1588;STRAND=-1;SYMBOL=DNLZ;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:33879;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs555520169 9:136357895 A ENSG00000213221 ENST00000371739 Transcript downstream_gene_variant - - - - - rs555520169 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=1585;STRAND=-1;SYMBOL=DNLZ;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:33879;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs555520169 9:136357895 A ENSG00000160360 ENST00000392944 Transcript intron_variant - - - - - rs555520169 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=GPSM1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17858;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs555520169 9:136357895 A ENSG00000160360 ENST00000429455 Transcript intron_variant - - - - - rs555520169 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=GPSM1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17858;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs555520169 9:136357895 A ENSG00000160360 ENST00000440944 Transcript intron_variant - - - - - rs555520169 IND=P2;ZYG=HOM;IMPACT=MODIFIER;STRAND=1;SYMBOL=GPSM1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17858;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs555520169 9:136357895 A ENSG00000289701 ENST00000696169 Transcript downstream_gene_variant - - - - - rs555520169 IND=P2;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=4009;STRAND=-1;AF=0.0002;AFR_AF=0;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0 rs1246824735 X:64917744 A ENSG00000126970 ENST00000337990 Transcript 3_prime_UTR_variant 1001 - - - - rs1246824735 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=ZC4H2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24931;gnomAD_AF=6.667e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=6.382e-05 rs1246824735 X:64917744 A ENSG00000126970 ENST00000374839 Transcript 3_prime_UTR_variant 787 - - - - rs1246824735 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=ZC4H2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24931;gnomAD_AF=6.667e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=6.382e-05 rs1246824735 X:64917744 A ENSG00000126970 ENST00000447788 Transcript 3_prime_UTR_variant 707 - - - - rs1246824735 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=ZC4H2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24931;gnomAD_AF=6.667e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=6.382e-05 rs1246824735 X:64917744 A ENSG00000126970 ENST00000476032 Transcript downstream_gene_variant - - - - - rs1246824735 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=114;STRAND=-1;SYMBOL=ZC4H2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24931;gnomAD_AF=6.667e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=6.382e-05 rs1246824735 X:64917744 A ENSG00000126970 ENST00000488406 Transcript non_coding_transcript_exon_variant 234 - - - - rs1246824735 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=ZC4H2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24931;gnomAD_AF=6.667e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=6.382e-05 rs1246824735 X:64917744 A ENSG00000126970 ENST00000488608 Transcript non_coding_transcript_exon_variant 2891 - - - - rs1246824735 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=ZC4H2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24931;gnomAD_AF=6.667e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=6.382e-05 rs1246824735 X:64917744 A ENSG00000126970 ENST00000488831 Transcript downstream_gene_variant - - - - - rs1246824735 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=96;STRAND=-1;SYMBOL=ZC4H2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24931;gnomAD_AF=6.667e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=6.382e-05 rs1246824735 X:64917744 A ENSG00000126970 ENST00000492653 Transcript downstream_gene_variant - - - - - rs1246824735 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=36;STRAND=-1;SYMBOL=ZC4H2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24931;gnomAD_AF=6.667e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=6.382e-05 rs1348167495 X:64918994 G ENSG00000126970 ENST00000337990 Transcript intron_variant - - - - - rs1348167495 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=ZC4H2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24931;gnomAD_AF=0;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1348167495 X:64918994 G ENSG00000126970 ENST00000374839 Transcript intron_variant - - - - - rs1348167495 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=ZC4H2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24931;gnomAD_AF=0;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1348167495 X:64918994 G ENSG00000126970 ENST00000447788 Transcript intron_variant - - - - - rs1348167495 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=ZC4H2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24931;gnomAD_AF=0;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1348167495 X:64918994 G ENSG00000126970 ENST00000476032 Transcript intron_variant,non_coding_transcript_variant - - - - - rs1348167495 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=ZC4H2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24931;gnomAD_AF=0;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1348167495 X:64918994 G ENSG00000126970 ENST00000488406 Transcript intron_variant,non_coding_transcript_variant - - - - - rs1348167495 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=ZC4H2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24931;gnomAD_AF=0;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1348167495 X:64918994 G ENSG00000126970 ENST00000488608 Transcript non_coding_transcript_exon_variant 1641 - - - - rs1348167495 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=ZC4H2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24931;gnomAD_AF=0;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1348167495 X:64918994 G ENSG00000126970 ENST00000488831 Transcript intron_variant,non_coding_transcript_variant - - - - - rs1348167495 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=ZC4H2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24931;gnomAD_AF=0;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs1348167495 X:64918994 G ENSG00000126970 ENST00000492653 Transcript intron_variant,non_coding_transcript_variant - - - - - rs1348167495 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=ZC4H2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24931;gnomAD_AF=0;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs756615930 X:64919134 T ENSG00000126970 ENST00000337990 Transcript missense_variant 756 400 134 A/T Gct/Act rs756615930 IND=P3;ZYG=HET;IMPACT=MODERATE;STRAND=-1;SYMBOL=ZC4H2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24931;SIFT=tolerated(0.28);PolyPhen=probably_damaging(0.994);gnomAD_AF=2.275e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=3.783e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=7.491e-05;gnomAD_FIN_AF=0;gnomAD_NFE_AF=2.545e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;CLIN_SIG=likely_benign;PHENO=1;G2P_complete=monoallelic_X_het=HET:X_64919134_C/T\|monoallelic_X_hem=HET:X_64919134_C/T;G2P_flag=monoallelic_X_het=HET,monoallelic_X_hem=HET rs756615930 X:64919134 T ENSG00000126970 ENST00000374839 Transcript missense_variant 542 469 157 A/T Gct/Act rs756615930 IND=P3;ZYG=HET;IMPACT=MODERATE;STRAND=-1;SYMBOL=ZC4H2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24931;SIFT=tolerated(0.21);PolyPhen=probably_damaging(0.994);gnomAD_AF=2.275e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=3.783e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=7.491e-05;gnomAD_FIN_AF=0;gnomAD_NFE_AF=2.545e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;CLIN_SIG=likely_benign;PHENO=1;G2P_complete=monoallelic_X_het=HET:X_64919134_C/T\|monoallelic_X_hem=HET:X_64919134_C/T;G2P_flag=monoallelic_X_het=HET,monoallelic_X_hem=HET rs756615930 X:64919134 T ENSG00000126970 ENST00000447788 Transcript intron_variant - - - - - rs756615930 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=ZC4H2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24931;gnomAD_AF=2.275e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=3.783e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=7.491e-05;gnomAD_FIN_AF=0;gnomAD_NFE_AF=2.545e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;CLIN_SIG=likely_benign;PHENO=1 rs756615930 X:64919134 T ENSG00000126970 ENST00000476032 Transcript non_coding_transcript_exon_variant 710 - - - - rs756615930 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=ZC4H2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24931;gnomAD_AF=2.275e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=3.783e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=7.491e-05;gnomAD_FIN_AF=0;gnomAD_NFE_AF=2.545e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;CLIN_SIG=likely_benign;PHENO=1 rs756615930 X:64919134 T ENSG00000126970 ENST00000488406 Transcript intron_variant,non_coding_transcript_variant - - - - - rs756615930 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=ZC4H2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24931;gnomAD_AF=2.275e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=3.783e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=7.491e-05;gnomAD_FIN_AF=0;gnomAD_NFE_AF=2.545e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;CLIN_SIG=likely_benign;PHENO=1 rs756615930 X:64919134 T ENSG00000126970 ENST00000488608 Transcript non_coding_transcript_exon_variant 1501 - - - - rs756615930 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=ZC4H2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24931;gnomAD_AF=2.275e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=3.783e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=7.491e-05;gnomAD_FIN_AF=0;gnomAD_NFE_AF=2.545e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;CLIN_SIG=likely_benign;PHENO=1 rs756615930 X:64919134 T ENSG00000126970 ENST00000488831 Transcript non_coding_transcript_exon_variant 457 - - - - rs756615930 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=ZC4H2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24931;gnomAD_AF=2.275e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=3.783e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=7.491e-05;gnomAD_FIN_AF=0;gnomAD_NFE_AF=2.545e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;CLIN_SIG=likely_benign;PHENO=1 rs756615930 X:64919134 T ENSG00000126970 ENST00000492653 Transcript non_coding_transcript_exon_variant 597 - - - - rs756615930 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=ZC4H2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24931;gnomAD_AF=2.275e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=3.783e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=7.491e-05;gnomAD_FIN_AF=0;gnomAD_NFE_AF=2.545e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;CLIN_SIG=likely_benign;PHENO=1 rs769885916 X:64919209 A ENSG00000126970 ENST00000337990 Transcript splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant - - - - - rs769885916,COSV100564920 IND=P3;ZYG=HET;IMPACT=LOW;STRAND=-1;SYMBOL=ZC4H2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24931;gnomAD_AF=5.507e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=5.257e-05;SOMATIC=0,1;PHENO=0,1 rs769885916 X:64919209 A ENSG00000126970 ENST00000374839 Transcript splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant - - - - - rs769885916,COSV100564920 IND=P3;ZYG=HET;IMPACT=LOW;STRAND=-1;SYMBOL=ZC4H2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24931;gnomAD_AF=5.507e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=5.257e-05;SOMATIC=0,1;PHENO=0,1 rs769885916 X:64919209 A ENSG00000126970 ENST00000447788 Transcript intron_variant - - - - - rs769885916,COSV100564920 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=ZC4H2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24931;gnomAD_AF=5.507e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=5.257e-05;SOMATIC=0,1;PHENO=0,1 rs769885916 X:64919209 A ENSG00000126970 ENST00000476032 Transcript splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant - - - - - rs769885916,COSV100564920 IND=P3;ZYG=HET;IMPACT=LOW;STRAND=-1;SYMBOL=ZC4H2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24931;gnomAD_AF=5.507e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=5.257e-05;SOMATIC=0,1;PHENO=0,1 rs769885916 X:64919209 A ENSG00000126970 ENST00000488406 Transcript splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant - - - - - rs769885916,COSV100564920 IND=P3;ZYG=HET;IMPACT=LOW;STRAND=-1;SYMBOL=ZC4H2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24931;gnomAD_AF=5.507e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=5.257e-05;SOMATIC=0,1;PHENO=0,1 rs769885916 X:64919209 A ENSG00000126970 ENST00000488608 Transcript non_coding_transcript_exon_variant 1426 - - - - rs769885916,COSV100564920 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=ZC4H2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24931;gnomAD_AF=5.507e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=5.257e-05;SOMATIC=0,1;PHENO=0,1 rs769885916 X:64919209 A ENSG00000126970 ENST00000488831 Transcript splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant - - - - - rs769885916,COSV100564920 IND=P3;ZYG=HET;IMPACT=LOW;STRAND=-1;SYMBOL=ZC4H2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24931;gnomAD_AF=5.507e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=5.257e-05;SOMATIC=0,1;PHENO=0,1 rs769885916 X:64919209 A ENSG00000126970 ENST00000492653 Transcript non_coding_transcript_exon_variant 522 - - - - rs769885916,COSV100564920 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=ZC4H2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24931;gnomAD_AF=5.507e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=5.257e-05;SOMATIC=0,1;PHENO=0,1 rs1345592229 X:64920279 G ENSG00000126970 ENST00000337990 Transcript intron_variant - - - - - rs1345592229 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=ZC4H2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24931;gnomAD_AF=5.966e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=6.658e-05 rs1345592229 X:64920279 G ENSG00000126970 ENST00000374839 Transcript intron_variant - - - - - rs1345592229 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=ZC4H2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24931;gnomAD_AF=5.966e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=6.658e-05 rs1345592229 X:64920279 G ENSG00000126970 ENST00000447788 Transcript intron_variant - - - - - rs1345592229 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=ZC4H2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24931;gnomAD_AF=5.966e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=6.658e-05 rs1345592229 X:64920279 G ENSG00000126970 ENST00000476032 Transcript intron_variant,non_coding_transcript_variant - - - - - rs1345592229 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=ZC4H2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24931;gnomAD_AF=5.966e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=6.658e-05 rs1345592229 X:64920279 G ENSG00000126970 ENST00000488406 Transcript upstream_gene_variant - - - - - rs1345592229 IND=P3;ZYG=HOM;IMPACT=MODIFIER;DISTANCE=152;STRAND=-1;SYMBOL=ZC4H2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24931;gnomAD_AF=5.966e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=6.658e-05 rs1345592229 X:64920279 G ENSG00000126970 ENST00000488608 Transcript intron_variant,non_coding_transcript_variant - - - - - rs1345592229 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=ZC4H2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24931;gnomAD_AF=5.966e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=6.658e-05 rs1345592229 X:64920279 G ENSG00000126970 ENST00000488831 Transcript intron_variant,non_coding_transcript_variant - - - - - rs1345592229 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=ZC4H2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24931;gnomAD_AF=5.966e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=6.658e-05 rs1345592229 X:64920279 G ENSG00000126970 ENST00000492653 Transcript intron_variant,non_coding_transcript_variant - - - - - rs1345592229 IND=P3;ZYG=HOM;IMPACT=MODIFIER;STRAND=-1;SYMBOL=ZC4H2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24931;gnomAD_AF=5.966e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=6.658e-05 rs761355441 X:64921773 A ENSG00000126970 ENST00000337990 Transcript intron_variant - - - - - rs761355441 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=ZC4H2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24931;gnomAD_AF=6.72e-06;gnomAD_AFR_AF=8.408e-05;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs761355441 X:64921773 A ENSG00000126970 ENST00000374839 Transcript intron_variant - - - - - rs761355441 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=ZC4H2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24931;gnomAD_AF=6.72e-06;gnomAD_AFR_AF=8.408e-05;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs761355441 X:64921773 A ENSG00000126970 ENST00000447788 Transcript intron_variant - - - - - rs761355441 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=ZC4H2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24931;gnomAD_AF=6.72e-06;gnomAD_AFR_AF=8.408e-05;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs761355441 X:64921773 A ENSG00000126970 ENST00000476032 Transcript intron_variant,non_coding_transcript_variant - - - - - rs761355441 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=ZC4H2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24931;gnomAD_AF=6.72e-06;gnomAD_AFR_AF=8.408e-05;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs761355441 X:64921773 A ENSG00000126970 ENST00000488406 Transcript upstream_gene_variant - - - - - rs761355441 IND=P3;ZYG=HET;IMPACT=MODIFIER;DISTANCE=1646;STRAND=-1;SYMBOL=ZC4H2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24931;gnomAD_AF=6.72e-06;gnomAD_AFR_AF=8.408e-05;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs761355441 X:64921773 A ENSG00000126970 ENST00000488608 Transcript intron_variant,non_coding_transcript_variant - - - - - rs761355441 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=ZC4H2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24931;gnomAD_AF=6.72e-06;gnomAD_AFR_AF=8.408e-05;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs761355441 X:64921773 A ENSG00000126970 ENST00000488831 Transcript intron_variant,non_coding_transcript_variant - - - - - rs761355441 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=ZC4H2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24931;gnomAD_AF=6.72e-06;gnomAD_AFR_AF=8.408e-05;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0 rs761355441 X:64921773 A ENSG00000126970 ENST00000492653 Transcript intron_variant,non_coding_transcript_variant - - - - - rs761355441 IND=P3;ZYG=HET;IMPACT=MODIFIER;STRAND=-1;SYMBOL=ZC4H2;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24931;gnomAD_AF=6.72e-06;gnomAD_AFR_AF=8.408e-05;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0