#chr pos(1-based) ref alt aaref aaalt rs_dbSNP151 hg19_chr hg19_pos(1-based) hg18_chr hg18_pos(1-based) aapos genename Ensembl_geneid Ensembl_transcriptid Ensembl_proteinid Uniprot_acc Uniprot_entry HGVSc_ANNOVAR HGVSp_ANNOVAR HGVSc_snpEff HGVSp_snpEff HGVSc_VEP HGVSp_VEP APPRIS GENCODE_basic TSL VEP_canonical cds_strand refcodon codonpos codon_degeneracy Ancestral_allele AltaiNeandertal Denisova VindijiaNeandertal SIFT_score SIFT_converted_rankscore SIFT_pred SIFT4G_score SIFT4G_converted_rankscore SIFT4G_pred Polyphen2_HDIV_score Polyphen2_HDIV_rankscore Polyphen2_HDIV_pred Polyphen2_HVAR_score Polyphen2_HVAR_rankscore Polyphen2_HVAR_pred LRT_score LRT_converted_rankscore LRT_pred LRT_Omega MutationTaster_score MutationTaster_converted_rankscore MutationTaster_pred MutationTaster_model MutationTaster_AAE MutationAssessor_score MutationAssessor_rankscore MutationAssessor_pred FATHMM_score FATHMM_converted_rankscore FATHMM_pred PROVEAN_score PROVEAN_converted_rankscore PROVEAN_pred VEST4_score VEST4_rankscore MetaSVM_score MetaSVM_rankscore MetaSVM_pred MetaLR_score MetaLR_rankscore MetaLR_pred Reliability_index M-CAP_score M-CAP_rankscore M-CAP_pred REVEL_score REVEL_rankscore MutPred_score MutPred_rankscore MutPred_protID MutPred_AAchange MutPred_Top5features MVP_score MVP_rankscore MPC_score MPC_rankscore PrimateAI_score PrimateAI_rankscore PrimateAI_pred DEOGEN2_score DEOGEN2_rankscore DEOGEN2_pred BayesDel_addAF_score BayesDel_addAF_rankscore BayesDel_addAF_pred BayesDel_noAF_score BayesDel_noAF_rankscore BayesDel_noAF_pred ClinPred_score ClinPred_rankscore ClinPred_pred LIST-S2_score LIST-S2_rankscore LIST-S2_pred Aloft_Fraction_transcripts_affected Aloft_prob_Tolerant Aloft_prob_Recessive Aloft_prob_Dominant Aloft_pred Aloft_Confidence CADD_raw CADD_raw_rankscore CADD_phred CADD_raw_hg19 CADD_raw_rankscore_hg19 CADD_phred_hg19 DANN_score DANN_rankscore fathmm-MKL_coding_score fathmm-MKL_coding_rankscore fathmm-MKL_coding_pred fathmm-MKL_coding_group fathmm-XF_coding_score fathmm-XF_coding_rankscore fathmm-XF_coding_pred Eigen-raw_coding Eigen-raw_coding_rankscore Eigen-phred_coding Eigen-PC-raw_coding Eigen-PC-raw_coding_rankscore Eigen-PC-phred_coding GenoCanyon_score GenoCanyon_rankscore integrated_fitCons_score integrated_fitCons_rankscore integrated_confidence_value GM12878_fitCons_score GM12878_fitCons_rankscore GM12878_confidence_value H1-hESC_fitCons_score H1-hESC_fitCons_rankscore H1-hESC_confidence_value HUVEC_fitCons_score HUVEC_fitCons_rankscore HUVEC_confidence_value LINSIGHT LINSIGHT_rankscore GERP++_NR GERP++_RS GERP++_RS_rankscore phyloP100way_vertebrate phyloP100way_vertebrate_rankscore phyloP30way_mammalian phyloP30way_mammalian_rankscore phyloP17way_primate phyloP17way_primate_rankscore phastCons100way_vertebrate phastCons100way_vertebrate_rankscore phastCons30way_mammalian phastCons30way_mammalian_rankscore phastCons17way_primate phastCons17way_primate_rankscore SiPhy_29way_pi SiPhy_29way_logOdds SiPhy_29way_logOdds_rankscore bStatistic bStatistic_converted_rankscore 1000Gp3_AC 1000Gp3_AF 1000Gp3_AFR_AC 1000Gp3_AFR_AF 1000Gp3_EUR_AC 1000Gp3_EUR_AF 1000Gp3_AMR_AC 1000Gp3_AMR_AF 1000Gp3_EAS_AC 1000Gp3_EAS_AF 1000Gp3_SAS_AC 1000Gp3_SAS_AF TWINSUK_AC TWINSUK_AF ALSPAC_AC ALSPAC_AF UK10K_AC UK10K_AF ESP6500_AA_AC ESP6500_AA_AF ESP6500_EA_AC ESP6500_EA_AF ExAC_AC ExAC_AF ExAC_Adj_AC ExAC_Adj_AF ExAC_AFR_AC ExAC_AFR_AF ExAC_AMR_AC ExAC_AMR_AF ExAC_EAS_AC ExAC_EAS_AF ExAC_FIN_AC ExAC_FIN_AF ExAC_NFE_AC ExAC_NFE_AF ExAC_SAS_AC ExAC_SAS_AF ExAC_nonTCGA_AC ExAC_nonTCGA_AF ExAC_nonTCGA_Adj_AC ExAC_nonTCGA_Adj_AF ExAC_nonTCGA_AFR_AC ExAC_nonTCGA_AFR_AF ExAC_nonTCGA_AMR_AC ExAC_nonTCGA_AMR_AF ExAC_nonTCGA_EAS_AC ExAC_nonTCGA_EAS_AF ExAC_nonTCGA_FIN_AC ExAC_nonTCGA_FIN_AF ExAC_nonTCGA_NFE_AC ExAC_nonTCGA_NFE_AF ExAC_nonTCGA_SAS_AC ExAC_nonTCGA_SAS_AF ExAC_nonpsych_AC ExAC_nonpsych_AF ExAC_nonpsych_Adj_AC ExAC_nonpsych_Adj_AF ExAC_nonpsych_AFR_AC ExAC_nonpsych_AFR_AF ExAC_nonpsych_AMR_AC ExAC_nonpsych_AMR_AF ExAC_nonpsych_EAS_AC ExAC_nonpsych_EAS_AF ExAC_nonpsych_FIN_AC ExAC_nonpsych_FIN_AF ExAC_nonpsych_NFE_AC ExAC_nonpsych_NFE_AF ExAC_nonpsych_SAS_AC ExAC_nonpsych_SAS_AF gnomAD_exomes_flag gnomAD_exomes_AC gnomAD_exomes_AN gnomAD_exomes_AF gnomAD_exomes_nhomalt gnomAD_exomes_AFR_AC gnomAD_exomes_AFR_AN gnomAD_exomes_AFR_AF gnomAD_exomes_AFR_nhomalt gnomAD_exomes_AMR_AC gnomAD_exomes_AMR_AN gnomAD_exomes_AMR_AF gnomAD_exomes_AMR_nhomalt gnomAD_exomes_ASJ_AC gnomAD_exomes_ASJ_AN gnomAD_exomes_ASJ_AF gnomAD_exomes_ASJ_nhomalt gnomAD_exomes_EAS_AC gnomAD_exomes_EAS_AN gnomAD_exomes_EAS_AF gnomAD_exomes_EAS_nhomalt gnomAD_exomes_FIN_AC gnomAD_exomes_FIN_AN gnomAD_exomes_FIN_AF gnomAD_exomes_FIN_nhomalt gnomAD_exomes_NFE_AC gnomAD_exomes_NFE_AN gnomAD_exomes_NFE_AF gnomAD_exomes_NFE_nhomalt gnomAD_exomes_SAS_AC gnomAD_exomes_SAS_AN gnomAD_exomes_SAS_AF gnomAD_exomes_SAS_nhomalt gnomAD_exomes_POPMAX_AC gnomAD_exomes_POPMAX_AN gnomAD_exomes_POPMAX_AF gnomAD_exomes_POPMAX_nhomalt gnomAD_exomes_controls_AC gnomAD_exomes_controls_AN gnomAD_exomes_controls_AF gnomAD_exomes_controls_nhomalt gnomAD_exomes_controls_AFR_AC gnomAD_exomes_controls_AFR_AN gnomAD_exomes_controls_AFR_AF gnomAD_exomes_controls_AFR_nhomalt gnomAD_exomes_controls_AMR_AC gnomAD_exomes_controls_AMR_AN gnomAD_exomes_controls_AMR_AF gnomAD_exomes_controls_AMR_nhomalt gnomAD_exomes_controls_ASJ_AC gnomAD_exomes_controls_ASJ_AN gnomAD_exomes_controls_ASJ_AF gnomAD_exomes_controls_ASJ_nhomalt gnomAD_exomes_controls_EAS_AC gnomAD_exomes_controls_EAS_AN gnomAD_exomes_controls_EAS_AF gnomAD_exomes_controls_EAS_nhomalt gnomAD_exomes_controls_FIN_AC gnomAD_exomes_controls_FIN_AN gnomAD_exomes_controls_FIN_AF gnomAD_exomes_controls_FIN_nhomalt gnomAD_exomes_controls_NFE_AC gnomAD_exomes_controls_NFE_AN gnomAD_exomes_controls_NFE_AF gnomAD_exomes_controls_NFE_nhomalt gnomAD_exomes_controls_SAS_AC gnomAD_exomes_controls_SAS_AN gnomAD_exomes_controls_SAS_AF gnomAD_exomes_controls_SAS_nhomalt gnomAD_exomes_controls_POPMAX_AC gnomAD_exomes_controls_POPMAX_AN gnomAD_exomes_controls_POPMAX_AF gnomAD_exomes_controls_POPMAX_nhomalt gnomAD_genomes_flag gnomAD_genomes_AC gnomAD_genomes_AN gnomAD_genomes_AF gnomAD_genomes_nhomalt gnomAD_genomes_AFR_AC gnomAD_genomes_AFR_AN gnomAD_genomes_AFR_AF gnomAD_genomes_AFR_nhomalt gnomAD_genomes_AMR_AC gnomAD_genomes_AMR_AN gnomAD_genomes_AMR_AF gnomAD_genomes_AMR_nhomalt gnomAD_genomes_ASJ_AC gnomAD_genomes_ASJ_AN gnomAD_genomes_ASJ_AF gnomAD_genomes_ASJ_nhomalt gnomAD_genomes_EAS_AC gnomAD_genomes_EAS_AN gnomAD_genomes_EAS_AF gnomAD_genomes_EAS_nhomalt gnomAD_genomes_FIN_AC gnomAD_genomes_FIN_AN gnomAD_genomes_FIN_AF gnomAD_genomes_FIN_nhomalt gnomAD_genomes_NFE_AC gnomAD_genomes_NFE_AN gnomAD_genomes_NFE_AF gnomAD_genomes_NFE_nhomalt gnomAD_genomes_AMI_AC gnomAD_genomes_AMI_AN gnomAD_genomes_AMI_AF gnomAD_genomes_AMI_nhomalt gnomAD_genomes_SAS_AC gnomAD_genomes_SAS_AN gnomAD_genomes_SAS_AF gnomAD_genomes_SAS_nhomalt gnomAD_genomes_POPMAX_AC gnomAD_genomes_POPMAX_AN gnomAD_genomes_POPMAX_AF gnomAD_genomes_POPMAX_nhomalt clinvar_id clinvar_clnsig clinvar_trait clinvar_review clinvar_hgvs clinvar_var_source clinvar_MedGen_id clinvar_OMIM_id clinvar_Orphanet_id Interpro_domain GTEx_V8_gene GTEx_V8_tissue Geuvadis_eQTL_target_gene 1 1118283 C T T I . 1 1118283 1 1108146 315;315;242 TTLL10;TTLL10;TTLL10 ENSG00000162571;ENSG00000162571;ENSG00000162571 ENST00000379290;ENST00000379289;ENST00000379288 ENSP00000368592;ENSP00000368591;ENSP00000368590 Q6ZVT0;Q6ZVT0;Q6ZVT0-3 TTL10_HUMAN;TTL10_HUMAN;TTL10_HUMAN c.944C>T;c.944C>T;c.725C>T p.T315I;p.T315I;p.T242I c.944C>T;c.944C>T;c.725C>T p.Thr315Ile;p.Thr315Ile;p.Thr242Ile c.944C>T;c.944C>T;c.725C>T p.Thr315Ile;p.Thr315Ile;p.Thr242Ile principal1;principal1;. Y;Y;Y 1;2;1 YES;.;. +;+;+ ACA;ACA;ACA 2;2;2 0;0;0 C C/C C/C C/C 0.073;0.073;0.095 0.34800 T;T;T 0.003;0.003;0.003 0.76473 D;D;D 0.883;0.883;0.915 0.50599 P;P;P 0.718;0.718;0.596 0.54779 P;P;P 0.028967 0.25522 U 0.333758 0.746819;0.746819;0.746819 0.33884 D;D;D simple_aae;simple_aae;simple_aae T315I;T242I;T315I 1.48;1.48;. 0.37141 L;L;. 3.41;3.41;3.41 0.05574 T;T;T -4.35;-4.35;-4.12 0.76900 D;D;D 0.681;0.682;0.648 0.68863 -0.9964 0.30919 T 0.0245 0.10464 T 10 0.007729 0.20510 T 0.121 0.34042 0.529 0.63547 Q6ZVT0 T315I Gain of ubiquitination at K313 (P = 0.1884); Loss of disorder (P = 0.255); Gain of glycosylation at K313 (P = 0.3578); Loss of helix (P = 0.3949); Gain of MoRF binding (P = 0.4151) 0.370789594751;0.370789594751;0.370789594751 0.36692 0.207176408666;.;. 0.23165 0.543806016445 0.44983 T 0.005963;0.005963;. 0.05402 T;T;. -0.18413 0.23124 T -0.502266 0.22112 T 0.855398237705231 0.50637 D .;0.863614;0.864914 0.56300 .;D;D .;.;. .;.;. .;.;. .;.;. .;.;. .;.;. 2.643797 0.44380 22.7 2.620953 0.46382 22.8 0.98342319395843136 0.40457 0.85560 0.44705 D AEFDBCIJ 0.256011 0.37502 N -0.140134618962495 0.35655 2.050812 -0.178999282302932 0.32311 1.836925 0.999172948980321 0.38651 0.580535 0.33130 0 0.59043 0.45803 0 0.576033 0.28219 0 0.562822 0.20929 0 . . 3.56 2.64 0.30504 1.503000 0.35323 0.112000 0.17000 -0.255000 0.07062 0.100000 0.22794 0.482000 0.26977 0.416000 0.27139 0.2332:0.7668:0.0:0.0 8.4249 0.31884 789 0.46346 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .;.;. . . .