Datasets:

marin-dna
/

evals_sge_rag_harness_255_v1

chrom large_string	pos int64	ref large_string	alt large_string	label bool	subset large_string	gene large_string	assay large_string	mavedb_urn large_string	function_score float64	author_gene large_string	author_chromosome int64	author_position_hg19 int64	author_reference large_string	author_alt large_string	author_transcript_id large_string	author_transcript_position large_string	author_transcript_ref large_string	author_transcript_alt large_string	author_transcript_variant large_string	author_aa_pos float64	author_aa_ref large_string	author_aa_alt large_string	author_protein_variant large_string	author_consequence large_string	author_function_score_mean float64	author_func_class large_string	author_p_nonfunctional float64	author_experiment large_string	author_negative int64	author_library int64	author_d5_r1 int64	author_d11_r1 int64	author_d5_r2 int64	author_d11_r2 int64	author_neg_freq float64	author_library_freq float64	author_d5_freq_r1 float64	author_d11_freq_r1 float64	author_d5_freq_r2 float64	author_d11_freq_r2 float64	author_d5_lib_ratio_r1 float64	author_loess_fit_r1 float64	author_d11_lib_raw_r1 float64	author_d11_lib_loess_r1 float64	author_d5_lib_ratio_r2 float64	author_loess_fit_r2 float64	author_d11_lib_raw_r2 float64	author_d11_lib_loess_r2 float64	author_function_score_r1 float64	author_function_score_r2 float64	author_rna_r1 float64	author_rna_r2 float64	author_rna_r1_freq float64	author_rna_r2_freq float64	author_rna_score_1 float64	author_rna_score_2 float64	author_mean_rna_score float64	author_cadd_score float64	author_phylop_mammalian float64	author_polyphen2 float64	author_sift float64	author_agvgd_diff float64	author_agvgd_class float64	author_clinvar large_string	author_clinvar_simple large_string	author_gnomad_af float64	author_bravo_af float64	author_flossies_af float64	author_wt_hap1_function_score_r1 float64	author_wt_hap1_function_score_r2 float64	author_wt_hap1_function_score_mean float64	consequence large_string	consequence_cre large_string	exon_closest_pc_gene_id large_string	distance_exon_pc int64	exon_closest_nc_gene_id large_string	distance_exon_nc int64	distance_exon int64	exon_closest_gene_id large_string	consequence_final large_string	tss_closest_pc_gene_id large_string	distance_tss_pc int64	tss_closest_nc_gene_id large_string	distance_tss_nc int64	distance_tss int64	tss_closest_gene_id large_string	consequence_group large_string	author_accession large_string	author_hgvs_nt large_string	author_hgvs_splice large_string	author_hgvs_pro large_string	author_score float64	author_chrom large_string	author_pos int64	author_ref large_string	author_exon large_string	author_target large_string	author_standard_error float64	author_95_ci_upper float64	author_95_ci_lower float64	author_amino_acid_change large_string	author_cds_position large_string	author_cdna_position large_string	author_functional_consequence large_string	author_gmm_density_abnormal float64	author_gmm_density_normal float64	author_variant_qc_flag large_string	author_functional_classification large_string	author_z_score_d4_d7 float64	author_z_score_continuous float64	author_bh_fdr_d4_d7 float64	author_bh_fdr_d4_d14 float64	author_bh_fdr_continuous float64	author_processed_adj_lfc_d4_d7 float64	author_processed_adj_lfc_d4_d14 float64	author_processed_adj_lfc_continuous float64	author_two_tailed_p_d4_d7 float64	author_two_tailed_p_d4_d14 float64	author_two_tailed_p_continuous float64	author_se_bind_d4_d7 float64	author_se_bind_d4_d14 float64	author_se_bind_continuous float64	author_gmm_fast_depleted_z large_string	author_gmm_slow_depleted_z large_string	author_gmm_uncertainty large_string	author_processed_lfc_d4_d7 float64	author_processed_lfc_d4_d10 float64	author_processed_lfc_d4_d14 float64	author_processed_lfc_d4_d21 float64	author_processed_lfc_continuous float64	author_se_bind_d4_d10 float64	author_se_bind_d4_d21 float64	author_processed_z_d4_d7 float64	author_processed_z_d4_d10 float64	author_processed_z_d4_d14 float64	author_processed_z_d4_d21 float64	author_processed_z_continuous float64	author_processed_bh_fdr_d4_d7 float64	author_processed_bh_fdr_d4_d10 float64	author_processed_bh_fdr_d4_d14 float64	author_processed_bh_fdr_d4_d21 float64	author_processed_bh_fdr_continuous float64	author_confidence_of_functionally_abnormal_variant_prediction large_string	author_sge_prediction_of_variant_function_in_ndd_context large_string	author_protein_position large_string	author_score_no_dab large_string	author_score_hap1_hif1a_ko large_string	author_rna_score_d6 large_string	author_rna_score_d20 large_string	assay_phenotypic_assay_method large_string	assay_delivery_method large_string	assay_endogenous_locus_library_method_mechanism large_string	assay_endogenous_locus_library_method_system large_string	assay_phenotypic_assay_dimensionality large_string	assay_phenotypic_assay_mechanism large_string	assay_phenotypic_assay_model_system large_string	assay_phenotypic_assay_profiling_strategy large_string	assay_phenotypic_assay_sequencing_read_type large_string	assay_variant_library_creation_method large_string	assay_molecular_mechanism_assessed large_string	author_class_harmonized large_string	calibrated_class large_string	calibration_scheme large_string	acmg_strength large_string	function_direction int8	function_score_aligned float64	variant_id large_string	query_name large_string	variant_pos0 int64	human_start int64	human_end int64	human_reference_sequence large_string	projection_version large_string	projection_chrom_0 large_string	projection_start_0 int64	projection_end_0 int64	projection_strand_0 large_string	available_0 bool	quality_pass_0 bool	projection_chrom_1 large_string	projection_start_1 int64	projection_end_1 int64	projection_strand_1 large_string	available_1 bool	quality_pass_1 bool	projection_chrom_2 large_string	projection_start_2 int64	projection_end_2 int64	projection_strand_2 large_string	available_2 bool	quality_pass_2 bool	projection_chrom_3 large_string	projection_start_3 int64	projection_end_3 int64	projection_strand_3 large_string	available_3 bool	quality_pass_3 bool	projection_chrom_4 large_string	projection_start_4 int64	projection_end_4 int64	projection_strand_4 large_string	available_4 bool	quality_pass_4 bool	projection_chrom_5 large_string	projection_start_5 int64	projection_end_5 int64	projection_strand_5 large_string	available_5 bool	quality_pass_5 bool	projection_chrom_6 large_string	projection_start_6 int64	projection_end_6 int64	projection_strand_6 large_string	available_6 bool	quality_pass_6 bool	strand large_string	sequence_0 large_string	sequence_1 large_string	sequence_2 large_string	sequence_3 large_string	sequence_4 large_string	sequence_5 large_string	sequence_6 large_string	sequence_7 large_string	context large_string	ref_completion large_string	alt_completion large_string	target bool	available_7 bool	quality_pass_7 bool	projection_chrom_7 large_string	projection_start_7 int64	projection_end_7 int64	projection_strand_7 large_string	species_order_version large_string	document_id large_string
1	35,187,965	T	A	false	splicing	SFPQ	sge	urn:mavedb:00001265-a-1	0.025045	null	null	null	null	A	null	null	null	null	null	null	null	null	null	splicing_variant	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	splice_region_variant	splice_region_variant	ENSG00000116560	7	ENSG00000116560	7	7	ENSG00000116560	splice_region_variant	ENSG00000116560	5,179	ENSG00000116560	76	76	ENSG00000116560	splicing	urn:mavedb:00001265-a-1#76	NC_000001.11:g.35187965T>A	NA	NA	0.025045	chr1	35,187,965	T	SFPQ_X7	SFPQ_X7B	0.014107	0.052694	-0.002605	---	p-	p-	functionally_normal	0.001065	0.998935	PASS	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	Cell proliferation assay	Chemical-based transfection	Nuclease	SpCas9	Single-dimensional data	Loss of function	Immortalized human cells	Direct sequencing	Single-segment (short read)	Endogenous locus library method	null	normal	normal	Investigator-provided functional classes	null	1	0.025045	1:35187965:T>A	sge_00000000	35,187,964	35,187,837	35,188,092	TCAAACATAATATACTTTGTTAGAAAAAAAGCAGAAAATAACTGTAATTTGATATTAAAATTTCCTGTAATTCCTTCTAGGTACCTGCAAGTTCTATAGACAACTCCAATTGGAAGGCAGTAAAGGCTGACTTACTGGATCCATGTAGCCCATTCGGCTGTAACTTTCCTCTCTTTGGCGCCTCATTTGTTCTTCCATCTCACGTTGACGAATCATCATCTCTTCCTCTCTTCTACGTCGTTCCTCCTCTTGCCT	zoonomia-rag-direct-hal-v1	null	null	null	null	false	false	GL010061.1	14,197,946	14,198,201	+	true	true	TolMat_scaffold_339430	3,249	3,504	+	true	true	CM000179.6	111,552,699	111,552,954	-	true	true	CM000378.2	22,062,886	22,063,141	-	true	true	chr4	127,026,726	127,026,981	-	true	true	null	null	null	null	false	false	+	NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN	GCTGTTTGCCTCCCGTGACCCTATCACAGAGTAGAACTGCCCCACAGGGTTTCCTAGGCCGTAATCTTTACAAGCGGATTCTGCTGGCGGATTCGAACCACCAACCTTTCAATTAGCAATTGAGTGCTTAACCAATGTACCACCAGGGCTCCTTACAAGTTCTGTAGGCAGCTCAAATTTGACAACTTACTGGATCCATGTAGCCCATCCTGCTGTAACTTTCCTCTCTTTGGCGTCTCATTTGTTCTTCCATCT	CAACTATTATAAAGAAAATAATGGCTATAATGTGAGACATTACATTTTTCATTTAACTGGGTAAAACTTCATTCTAGGTACCCACAAGTTCTGTAGAAAATTCCAACGACTGCAAAAAAGTGAACTTACTGGATCCATGTAGCCCATCCGGCTGTAGCTTTCCTCTCTTTGGCGTCTCATTTGTTCTTCCATCTCACGTTGACGAATCATCATCTCTTCCTCCCTTCTACGTCGTTCTTCCTCTTGCCTGGAAAT	GGTTAAAAAGAAAGAAAGAAAAAGGTAGAATAGCTACCATGTGAAAAGTGACATTTAACTGAATAAACTGCACCCTAGGTATCCACAAATTCTGTAGAAAACTCCGATTACATTGCAAAAGTTTACTTACTGGATCCATATAGCCCATCCGACTATAACTTTCCTCTCTTTGGCGTCTCATCTGTTCTTCCATCTCACGTTGACGAATCATCATCTCTTCTTCCCTCCTACGTCGTTCTTCCTCTTGCCTGGAAA	AAGCCGTACTGTGGCGGTGTCCCACATATAAAATAGAGGAAGATTGGCACAGATGTTAGCTCAGGGACAATCTTCCTCAAGCAAAAAGAAGATTAGCAACACATGTTAGCTCAGGGCCAGTCTTCCTCACACACACACACAAATTAGCTATAATGCAAAATGTTCTACTTAACTGAGTAACATTTCGTTCTAGGTACCTACAAGTTTTATAGACAACTCCAATTAGATCACAACAGAAGTATACTTACTGGATCC	GCATTTGGTCCAGCAAGATCTGATAGGAGTTTATACACACAAAACAAAACAGCCACGCCTGAGTGAGTGTACACTTACAATGGATAAAAACTTACTGGATCCATGTAGCCCATCCTGCTGTAACTTTCTTCTCGTTGGCGTCTCATTTGTTCTTCCATCTCACGTTGGCGAATCATCATCTCTTCCTCTCGTCTACGCCGTTCCTCCTCTTGCCTACAAATATTTTTCAGGCATATAAAACAAAGTGTCATCCAT	NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN	TCAAACATAATATACTTTGTTAGAAAAAAAGCAGAAAATAACTGTAATTTGATATTAAAATTTCCTGTAATTCCTTCTAGGTACCTGCAAGTTCTATAGACAACTCCAATTGGAAGGCAGTAAAGGCTGACTTACTGGATCCATGTAGCCCATTCGGCTGTAACTTTCCTCTCTTTGGCGCCTCATTTGTTCTTCCATCTCACGTTGACGAATCATCATCTCTTCCTCTCTTCTACGTCGTTCCTCCTCTTGCCT	NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN[SEQ]GCTGTTTGCCTCCCGTGACCCTATCACAGAGTAGAACTGCCCCACAGGGTTTCCTAGGCC...	TGACTTACTGGATCCATGTAGCCCATTCGGCTGTAACTTTCCTCTCTTTGGCGCCTCATTTGTTCTTCCATCTCACGTTGACGAATCATCATCTCTTCCTCTCTTCTACGTCGTTCCTCCTCTTGCCT	AGACTTACTGGATCCATGTAGCCCATTCGGCTGTAACTTTCCTCTCTTTGGCGCCTCATTTGTTCTTCCATCTCACGTTGACGAATCATCATCTCTTCCTCTCTTCTACGTCGTTCCTCCTCTTGCCT	false	true	true	1	35,187,837	35,188,092	+	zoonomia-rag-v1	sge\|1:35187965:T>A\|+
1	35,187,965	T	A	false	splicing	SFPQ	sge	urn:mavedb:00001265-a-1	0.025045	null	null	null	null	A	null	null	null	null	null	null	null	null	null	splicing_variant	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	splice_region_variant	splice_region_variant	ENSG00000116560	7	ENSG00000116560	7	7	ENSG00000116560	splice_region_variant	ENSG00000116560	5,179	ENSG00000116560	76	76	ENSG00000116560	splicing	urn:mavedb:00001265-a-1#76	NC_000001.11:g.35187965T>A	NA	NA	0.025045	chr1	35,187,965	T	SFPQ_X7	SFPQ_X7B	0.014107	0.052694	-0.002605	---	p-	p-	functionally_normal	0.001065	0.998935	PASS	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	Cell proliferation assay	Chemical-based transfection	Nuclease	SpCas9	Single-dimensional data	Loss of function	Immortalized human cells	Direct sequencing	Single-segment (short read)	Endogenous locus library method	null	normal	normal	Investigator-provided functional classes	null	1	0.025045	1:35187965:T>A	sge_00000000	35,187,964	35,187,837	35,188,092	TCAAACATAATATACTTTGTTAGAAAAAAAGCAGAAAATAACTGTAATTTGATATTAAAATTTCCTGTAATTCCTTCTAGGTACCTGCAAGTTCTATAGACAACTCCAATTGGAAGGCAGTAAAGGCTGACTTACTGGATCCATGTAGCCCATTCGGCTGTAACTTTCCTCTCTTTGGCGCCTCATTTGTTCTTCCATCTCACGTTGACGAATCATCATCTCTTCCTCTCTTCTACGTCGTTCCTCCTCTTGCCT	zoonomia-rag-direct-hal-v1	null	null	null	null	false	false	GL010061.1	14,197,946	14,198,201	+	true	true	TolMat_scaffold_339430	3,249	3,504	+	true	true	CM000179.6	111,552,699	111,552,954	-	true	true	CM000378.2	22,062,886	22,063,141	-	true	true	chr4	127,026,726	127,026,981	-	true	true	null	null	null	null	false	false	-	NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN	AGATGGAAGAACAAATGAGACGCCAAAGAGAGGAAAGTTACAGCAGGATGGGCTACATGGATCCAGTAAGTTGTCAAATTTGAGCTGCCTACAGAACTTGTAAGGAGCCCTGGTGGTACATTGGTTAAGCACTCAATTGCTAATTGAAAGGTTGGTGGTTCGAATCCGCCAGCAGAATCCGCTTGTAAAGATTACGGCCTAGGAAACCCTGTGGGGCAGTTCTACTCTGTGATAGGGTCACGGGAGGCAAACAGC	ATTTCCAGGCAAGAGGAAGAACGACGTAGAAGGGAGGAAGAGATGATGATTCGTCAACGTGAGATGGAAGAACAAATGAGACGCCAAAGAGAGGAAAGCTACAGCCGGATGGGCTACATGGATCCAGTAAGTTCACTTTTTTGCAGTCGTTGGAATTTTCTACAGAACTTGTGGGTACCTAGAATGAAGTTTTACCCAGTTAAATGAAAAATGTAATGTCTCACATTATAGCCATTATTTTCTTTATAATAGTTG	TTTCCAGGCAAGAGGAAGAACGACGTAGGAGGGAAGAAGAGATGATGATTCGTCAACGTGAGATGGAAGAACAGATGAGACGCCAAAGAGAGGAAAGTTATAGTCGGATGGGCTATATGGATCCAGTAAGTAAACTTTTGCAATGTAATCGGAGTTTTCTACAGAATTTGTGGATACCTAGGGTGCAGTTTATTCAGTTAAATGTCACTTTTCACATGGTAGCTATTCTACCTTTTTCTTTCTTTCTTTTTAACC	GGATCCAGTAAGTATACTTCTGTTGTGATCTAATTGGAGTTGTCTATAAAACTTGTAGGTACCTAGAACGAAATGTTACTCAGTTAAGTAGAACATTTTGCATTATAGCTAATTTGTGTGTGTGTGTGAGGAAGACTGGCCCTGAGCTAACATGTGTTGCTAATCTTCTTTTTGCTTGAGGAAGATTGTCCCTGAGCTAACATCTGTGCCAATCTTCCTCTATTTTATATGTGGGACACCGCCACAGTACGGCTT	ATGGATGACACTTTGTTTTATATGCCTGAAAAATATTTGTAGGCAAGAGGAGGAACGGCGTAGACGAGAGGAAGAGATGATGATTCGCCAACGTGAGATGGAAGAACAAATGAGACGCCAACGAGAAGAAAGTTACAGCAGGATGGGCTACATGGATCCAGTAAGTTTTTATCCATTGTAAGTGTACACTCACTCAGGCGTGGCTGTTTTGTTTTGTGTGTATAAACTCCTATCAGATCTTGCTGGACCAAATGC	NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN	AGGCAAGAGGAGGAACGACGTAGAAGAGAGGAAGAGATGATGATTCGTCAACGTGAGATGGAAGAACAAATGAGGCGCCAAAGAGAGGAAAGTTACAGCCGAATGGGCTACATGGATCCAGTAAGTCAGCCTTTACTGCCTTCCAATTGGAGTTGTCTATAGAACTTGCAGGTACCTAGAAGGAATTACAGGAAATTTTAATATCAAATTACAGTTATTTTCTGCTTTTTTTCTAACAAAGTATATTATGTTTGA	NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN[SEQ]AGATGGAAGAACAAATGAGACGCCAAAGAGAGGAAAGTTACAGCAGGATGGGCTACATGG...	AGCCTTTACTGCCTTCCAATTGGAGTTGTCTATAGAACTTGCAGGTACCTAGAAGGAATTACAGGAAATTTTAATATCAAATTACAGTTATTTTCTGCTTTTTTTCTAACAAAGTATATTATGTTTGA	TGCCTTTACTGCCTTCCAATTGGAGTTGTCTATAGAACTTGCAGGTACCTAGAAGGAATTACAGGAAATTTTAATATCAAATTACAGTTATTTTCTGCTTTTTTTCTAACAAAGTATATTATGTTTGA	false	true	true	1	35,187,837	35,188,092	-	zoonomia-rag-v1	sge\|1:35187965:T>A\|-
1	35,187,965	T	G	false	splicing	SFPQ	sge	urn:mavedb:00001265-a-1	0.005667	null	null	null	null	G	null	null	null	null	null	null	null	null	null	splicing_variant	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	splice_region_variant	splice_region_variant	ENSG00000116560	7	ENSG00000116560	7	7	ENSG00000116560	splice_region_variant	ENSG00000116560	5,179	ENSG00000116560	76	76	ENSG00000116560	splicing	urn:mavedb:00001265-a-1#78	NC_000001.11:g.35187965T>G	NA	NA	0.005667	chr1	35,187,965	T	SFPQ_X7	SFPQ_X7B	0.009661	0.024602	-0.013268	---	p-	p-	functionally_normal	0.001202	0.998798	PASS	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	Cell proliferation assay	Chemical-based transfection	Nuclease	SpCas9	Single-dimensional data	Loss of function	Immortalized human cells	Direct sequencing	Single-segment (short read)	Endogenous locus library method	null	normal	normal	Investigator-provided functional classes	null	1	0.005667	1:35187965:T>G	sge_00000001	35,187,964	35,187,837	35,188,092	TCAAACATAATATACTTTGTTAGAAAAAAAGCAGAAAATAACTGTAATTTGATATTAAAATTTCCTGTAATTCCTTCTAGGTACCTGCAAGTTCTATAGACAACTCCAATTGGAAGGCAGTAAAGGCTGACTTACTGGATCCATGTAGCCCATTCGGCTGTAACTTTCCTCTCTTTGGCGCCTCATTTGTTCTTCCATCTCACGTTGACGAATCATCATCTCTTCCTCTCTTCTACGTCGTTCCTCCTCTTGCCT	zoonomia-rag-direct-hal-v1	null	null	null	null	false	false	GL010061.1	14,197,946	14,198,201	+	true	true	TolMat_scaffold_339430	3,249	3,504	+	true	true	CM000179.6	111,552,699	111,552,954	-	true	true	CM000378.2	22,062,886	22,063,141	-	true	true	chr4	127,026,726	127,026,981	-	true	true	null	null	null	null	false	false	+	NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN	GCTGTTTGCCTCCCGTGACCCTATCACAGAGTAGAACTGCCCCACAGGGTTTCCTAGGCCGTAATCTTTACAAGCGGATTCTGCTGGCGGATTCGAACCACCAACCTTTCAATTAGCAATTGAGTGCTTAACCAATGTACCACCAGGGCTCCTTACAAGTTCTGTAGGCAGCTCAAATTTGACAACTTACTGGATCCATGTAGCCCATCCTGCTGTAACTTTCCTCTCTTTGGCGTCTCATTTGTTCTTCCATCT	CAACTATTATAAAGAAAATAATGGCTATAATGTGAGACATTACATTTTTCATTTAACTGGGTAAAACTTCATTCTAGGTACCCACAAGTTCTGTAGAAAATTCCAACGACTGCAAAAAAGTGAACTTACTGGATCCATGTAGCCCATCCGGCTGTAGCTTTCCTCTCTTTGGCGTCTCATTTGTTCTTCCATCTCACGTTGACGAATCATCATCTCTTCCTCCCTTCTACGTCGTTCTTCCTCTTGCCTGGAAAT	GGTTAAAAAGAAAGAAAGAAAAAGGTAGAATAGCTACCATGTGAAAAGTGACATTTAACTGAATAAACTGCACCCTAGGTATCCACAAATTCTGTAGAAAACTCCGATTACATTGCAAAAGTTTACTTACTGGATCCATATAGCCCATCCGACTATAACTTTCCTCTCTTTGGCGTCTCATCTGTTCTTCCATCTCACGTTGACGAATCATCATCTCTTCTTCCCTCCTACGTCGTTCTTCCTCTTGCCTGGAAA	AAGCCGTACTGTGGCGGTGTCCCACATATAAAATAGAGGAAGATTGGCACAGATGTTAGCTCAGGGACAATCTTCCTCAAGCAAAAAGAAGATTAGCAACACATGTTAGCTCAGGGCCAGTCTTCCTCACACACACACACAAATTAGCTATAATGCAAAATGTTCTACTTAACTGAGTAACATTTCGTTCTAGGTACCTACAAGTTTTATAGACAACTCCAATTAGATCACAACAGAAGTATACTTACTGGATCC	GCATTTGGTCCAGCAAGATCTGATAGGAGTTTATACACACAAAACAAAACAGCCACGCCTGAGTGAGTGTACACTTACAATGGATAAAAACTTACTGGATCCATGTAGCCCATCCTGCTGTAACTTTCTTCTCGTTGGCGTCTCATTTGTTCTTCCATCTCACGTTGGCGAATCATCATCTCTTCCTCTCGTCTACGCCGTTCCTCCTCTTGCCTACAAATATTTTTCAGGCATATAAAACAAAGTGTCATCCAT	NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN	TCAAACATAATATACTTTGTTAGAAAAAAAGCAGAAAATAACTGTAATTTGATATTAAAATTTCCTGTAATTCCTTCTAGGTACCTGCAAGTTCTATAGACAACTCCAATTGGAAGGCAGTAAAGGCTGACTTACTGGATCCATGTAGCCCATTCGGCTGTAACTTTCCTCTCTTTGGCGCCTCATTTGTTCTTCCATCTCACGTTGACGAATCATCATCTCTTCCTCTCTTCTACGTCGTTCCTCCTCTTGCCT	NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN[SEQ]GCTGTTTGCCTCCCGTGACCCTATCACAGAGTAGAACTGCCCCACAGGGTTTCCTAGGCC...	TGACTTACTGGATCCATGTAGCCCATTCGGCTGTAACTTTCCTCTCTTTGGCGCCTCATTTGTTCTTCCATCTCACGTTGACGAATCATCATCTCTTCCTCTCTTCTACGTCGTTCCTCCTCTTGCCT	GGACTTACTGGATCCATGTAGCCCATTCGGCTGTAACTTTCCTCTCTTTGGCGCCTCATTTGTTCTTCCATCTCACGTTGACGAATCATCATCTCTTCCTCTCTTCTACGTCGTTCCTCCTCTTGCCT	false	true	true	1	35,187,837	35,188,092	+	zoonomia-rag-v1	sge\|1:35187965:T>G\|+
1	35,187,965	T	G	false	splicing	SFPQ	sge	urn:mavedb:00001265-a-1	0.005667	null	null	null	null	G	null	null	null	null	null	null	null	null	null	splicing_variant	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	splice_region_variant	splice_region_variant	ENSG00000116560	7	ENSG00000116560	7	7	ENSG00000116560	splice_region_variant	ENSG00000116560	5,179	ENSG00000116560	76	76	ENSG00000116560	splicing	urn:mavedb:00001265-a-1#78	NC_000001.11:g.35187965T>G	NA	NA	0.005667	chr1	35,187,965	T	SFPQ_X7	SFPQ_X7B	0.009661	0.024602	-0.013268	---	p-	p-	functionally_normal	0.001202	0.998798	PASS	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	Cell proliferation assay	Chemical-based transfection	Nuclease	SpCas9	Single-dimensional data	Loss of function	Immortalized human cells	Direct sequencing	Single-segment (short read)	Endogenous locus library method	null	normal	normal	Investigator-provided functional classes	null	1	0.005667	1:35187965:T>G	sge_00000001	35,187,964	35,187,837	35,188,092	TCAAACATAATATACTTTGTTAGAAAAAAAGCAGAAAATAACTGTAATTTGATATTAAAATTTCCTGTAATTCCTTCTAGGTACCTGCAAGTTCTATAGACAACTCCAATTGGAAGGCAGTAAAGGCTGACTTACTGGATCCATGTAGCCCATTCGGCTGTAACTTTCCTCTCTTTGGCGCCTCATTTGTTCTTCCATCTCACGTTGACGAATCATCATCTCTTCCTCTCTTCTACGTCGTTCCTCCTCTTGCCT	zoonomia-rag-direct-hal-v1	null	null	null	null	false	false	GL010061.1	14,197,946	14,198,201	+	true	true	TolMat_scaffold_339430	3,249	3,504	+	true	true	CM000179.6	111,552,699	111,552,954	-	true	true	CM000378.2	22,062,886	22,063,141	-	true	true	chr4	127,026,726	127,026,981	-	true	true	null	null	null	null	false	false	-	NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN	AGATGGAAGAACAAATGAGACGCCAAAGAGAGGAAAGTTACAGCAGGATGGGCTACATGGATCCAGTAAGTTGTCAAATTTGAGCTGCCTACAGAACTTGTAAGGAGCCCTGGTGGTACATTGGTTAAGCACTCAATTGCTAATTGAAAGGTTGGTGGTTCGAATCCGCCAGCAGAATCCGCTTGTAAAGATTACGGCCTAGGAAACCCTGTGGGGCAGTTCTACTCTGTGATAGGGTCACGGGAGGCAAACAGC	ATTTCCAGGCAAGAGGAAGAACGACGTAGAAGGGAGGAAGAGATGATGATTCGTCAACGTGAGATGGAAGAACAAATGAGACGCCAAAGAGAGGAAAGCTACAGCCGGATGGGCTACATGGATCCAGTAAGTTCACTTTTTTGCAGTCGTTGGAATTTTCTACAGAACTTGTGGGTACCTAGAATGAAGTTTTACCCAGTTAAATGAAAAATGTAATGTCTCACATTATAGCCATTATTTTCTTTATAATAGTTG	TTTCCAGGCAAGAGGAAGAACGACGTAGGAGGGAAGAAGAGATGATGATTCGTCAACGTGAGATGGAAGAACAGATGAGACGCCAAAGAGAGGAAAGTTATAGTCGGATGGGCTATATGGATCCAGTAAGTAAACTTTTGCAATGTAATCGGAGTTTTCTACAGAATTTGTGGATACCTAGGGTGCAGTTTATTCAGTTAAATGTCACTTTTCACATGGTAGCTATTCTACCTTTTTCTTTCTTTCTTTTTAACC	GGATCCAGTAAGTATACTTCTGTTGTGATCTAATTGGAGTTGTCTATAAAACTTGTAGGTACCTAGAACGAAATGTTACTCAGTTAAGTAGAACATTTTGCATTATAGCTAATTTGTGTGTGTGTGTGAGGAAGACTGGCCCTGAGCTAACATGTGTTGCTAATCTTCTTTTTGCTTGAGGAAGATTGTCCCTGAGCTAACATCTGTGCCAATCTTCCTCTATTTTATATGTGGGACACCGCCACAGTACGGCTT	ATGGATGACACTTTGTTTTATATGCCTGAAAAATATTTGTAGGCAAGAGGAGGAACGGCGTAGACGAGAGGAAGAGATGATGATTCGCCAACGTGAGATGGAAGAACAAATGAGACGCCAACGAGAAGAAAGTTACAGCAGGATGGGCTACATGGATCCAGTAAGTTTTTATCCATTGTAAGTGTACACTCACTCAGGCGTGGCTGTTTTGTTTTGTGTGTATAAACTCCTATCAGATCTTGCTGGACCAAATGC	NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN	AGGCAAGAGGAGGAACGACGTAGAAGAGAGGAAGAGATGATGATTCGTCAACGTGAGATGGAAGAACAAATGAGGCGCCAAAGAGAGGAAAGTTACAGCCGAATGGGCTACATGGATCCAGTAAGTCAGCCTTTACTGCCTTCCAATTGGAGTTGTCTATAGAACTTGCAGGTACCTAGAAGGAATTACAGGAAATTTTAATATCAAATTACAGTTATTTTCTGCTTTTTTTCTAACAAAGTATATTATGTTTGA	NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN[SEQ]AGATGGAAGAACAAATGAGACGCCAAAGAGAGGAAAGTTACAGCAGGATGGGCTACATGG...	AGCCTTTACTGCCTTCCAATTGGAGTTGTCTATAGAACTTGCAGGTACCTAGAAGGAATTACAGGAAATTTTAATATCAAATTACAGTTATTTTCTGCTTTTTTTCTAACAAAGTATATTATGTTTGA	CGCCTTTACTGCCTTCCAATTGGAGTTGTCTATAGAACTTGCAGGTACCTAGAAGGAATTACAGGAAATTTTAATATCAAATTACAGTTATTTTCTGCTTTTTTTCTAACAAAGTATATTATGTTTGA	false	true	true	1	35,187,837	35,188,092	-	zoonomia-rag-v1	sge\|1:35187965:T>G\|-
1	35,187,966	G	A	false	splicing	SFPQ	sge	urn:mavedb:00001265-a-1	0.01518	null	null	null	null	A	null	null	null	null	null	null	null	null	null	splicing_variant	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	splice_region_variant	splice_region_variant	ENSG00000116560	6	ENSG00000116560	6	6	ENSG00000116560	splice_region_variant	ENSG00000116560	5,178	ENSG00000116560	75	75	ENSG00000116560	splicing	urn:mavedb:00001265-a-1#79	NC_000001.11:g.35187966G>A	NA	NA	0.01518	chr1	35,187,966	G	SFPQ_X7	SFPQ_X7B	0.007415	0.029713	0.000647	---	p-	p-	functionally_normal	0.000821	0.999179	PASS	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	Cell proliferation assay	Chemical-based transfection	Nuclease	SpCas9	Single-dimensional data	Loss of function	Immortalized human cells	Direct sequencing	Single-segment (short read)	Endogenous locus library method	null	normal	normal	Investigator-provided functional classes	null	1	0.01518	1:35187966:G>A	sge_00000002	35,187,965	35,187,838	35,188,093	CAAACATAATATACTTTGTTAGAAAAAAAGCAGAAAATAACTGTAATTTGATATTAAAATTTCCTGTAATTCCTTCTAGGTACCTGCAAGTTCTATAGACAACTCCAATTGGAAGGCAGTAAAGGCTGACTTACTGGATCCATGTAGCCCATTCGGCTGTAACTTTCCTCTCTTTGGCGCCTCATTTGTTCTTCCATCTCACGTTGACGAATCATCATCTCTTCCTCTCTTCTACGTCGTTCCTCCTCTTGCCTA	zoonomia-rag-direct-hal-v1	null	null	null	null	false	false	GL010061.1	14,197,946	14,198,201	+	true	true	TolMat_scaffold_339430	3,249	3,504	+	true	true	CM000179.6	111,552,699	111,552,954	-	true	true	CM000378.2	22,062,885	22,063,140	-	true	true	chr4	127,026,726	127,026,981	-	true	true	null	null	null	null	false	false	+	NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN	GCTGTTTGCCTCCCGTGACCCTATCACAGAGTAGAACTGCCCCACAGGGTTTCCTAGGCCGTAATCTTTACAAGCGGATTCTGCTGGCGGATTCGAACCACCAACCTTTCAATTAGCAATTGAGTGCTTAACCAATGTACCACCAGGGCTCCTTACAAGTTCTGTAGGCAGCTCAAATTTGACAACTTACTGGATCCATGTAGCCCATCCTGCTGTAACTTTCCTCTCTTTGGCGTCTCATTTGTTCTTCCATCT	CAACTATTATAAAGAAAATAATGGCTATAATGTGAGACATTACATTTTTCATTTAACTGGGTAAAACTTCATTCTAGGTACCCACAAGTTCTGTAGAAAATTCCAACGACTGCAAAAAAGTGAACTTACTGGATCCATGTAGCCCATCCGGCTGTAGCTTTCCTCTCTTTGGCGTCTCATTTGTTCTTCCATCTCACGTTGACGAATCATCATCTCTTCCTCCCTTCTACGTCGTTCTTCCTCTTGCCTGGAAAT	GGTTAAAAAGAAAGAAAGAAAAAGGTAGAATAGCTACCATGTGAAAAGTGACATTTAACTGAATAAACTGCACCCTAGGTATCCACAAATTCTGTAGAAAACTCCGATTACATTGCAAAAGTTTACTTACTGGATCCATATAGCCCATCCGACTATAACTTTCCTCTCTTTGGCGTCTCATCTGTTCTTCCATCTCACGTTGACGAATCATCATCTCTTCTTCCCTCCTACGTCGTTCTTCCTCTTGCCTGGAAA	AGCCGTACTGTGGCGGTGTCCCACATATAAAATAGAGGAAGATTGGCACAGATGTTAGCTCAGGGACAATCTTCCTCAAGCAAAAAGAAGATTAGCAACACATGTTAGCTCAGGGCCAGTCTTCCTCACACACACACACAAATTAGCTATAATGCAAAATGTTCTACTTAACTGAGTAACATTTCGTTCTAGGTACCTACAAGTTTTATAGACAACTCCAATTAGATCACAACAGAAGTATACTTACTGGATCCA	GCATTTGGTCCAGCAAGATCTGATAGGAGTTTATACACACAAAACAAAACAGCCACGCCTGAGTGAGTGTACACTTACAATGGATAAAAACTTACTGGATCCATGTAGCCCATCCTGCTGTAACTTTCTTCTCGTTGGCGTCTCATTTGTTCTTCCATCTCACGTTGGCGAATCATCATCTCTTCCTCTCGTCTACGCCGTTCCTCCTCTTGCCTACAAATATTTTTCAGGCATATAAAACAAAGTGTCATCCAT	NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN	CAAACATAATATACTTTGTTAGAAAAAAAGCAGAAAATAACTGTAATTTGATATTAAAATTTCCTGTAATTCCTTCTAGGTACCTGCAAGTTCTATAGACAACTCCAATTGGAAGGCAGTAAAGGCTGACTTACTGGATCCATGTAGCCCATTCGGCTGTAACTTTCCTCTCTTTGGCGCCTCATTTGTTCTTCCATCTCACGTTGACGAATCATCATCTCTTCCTCTCTTCTACGTCGTTCCTCCTCTTGCCTA	NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN[SEQ]GCTGTTTGCCTCCCGTGACCCTATCACAGAGTAGAACTGCCCCACAGGGTTTCCTAGGCC...	GACTTACTGGATCCATGTAGCCCATTCGGCTGTAACTTTCCTCTCTTTGGCGCCTCATTTGTTCTTCCATCTCACGTTGACGAATCATCATCTCTTCCTCTCTTCTACGTCGTTCCTCCTCTTGCCTA	AACTTACTGGATCCATGTAGCCCATTCGGCTGTAACTTTCCTCTCTTTGGCGCCTCATTTGTTCTTCCATCTCACGTTGACGAATCATCATCTCTTCCTCTCTTCTACGTCGTTCCTCCTCTTGCCTA	false	true	true	1	35,187,838	35,188,093	+	zoonomia-rag-v1	sge\|1:35187966:G>A\|+
1	35,187,966	G	A	false	splicing	SFPQ	sge	urn:mavedb:00001265-a-1	0.01518	null	null	null	null	A	null	null	null	null	null	null	null	null	null	splicing_variant	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	splice_region_variant	splice_region_variant	ENSG00000116560	6	ENSG00000116560	6	6	ENSG00000116560	splice_region_variant	ENSG00000116560	5,178	ENSG00000116560	75	75	ENSG00000116560	splicing	urn:mavedb:00001265-a-1#79	NC_000001.11:g.35187966G>A	NA	NA	0.01518	chr1	35,187,966	G	SFPQ_X7	SFPQ_X7B	0.007415	0.029713	0.000647	---	p-	p-	functionally_normal	0.000821	0.999179	PASS	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	Cell proliferation assay	Chemical-based transfection	Nuclease	SpCas9	Single-dimensional data	Loss of function	Immortalized human cells	Direct sequencing	Single-segment (short read)	Endogenous locus library method	null	normal	normal	Investigator-provided functional classes	null	1	0.01518	1:35187966:G>A	sge_00000002	35,187,965	35,187,838	35,188,093	CAAACATAATATACTTTGTTAGAAAAAAAGCAGAAAATAACTGTAATTTGATATTAAAATTTCCTGTAATTCCTTCTAGGTACCTGCAAGTTCTATAGACAACTCCAATTGGAAGGCAGTAAAGGCTGACTTACTGGATCCATGTAGCCCATTCGGCTGTAACTTTCCTCTCTTTGGCGCCTCATTTGTTCTTCCATCTCACGTTGACGAATCATCATCTCTTCCTCTCTTCTACGTCGTTCCTCCTCTTGCCTA	zoonomia-rag-direct-hal-v1	null	null	null	null	false	false	GL010061.1	14,197,946	14,198,201	+	true	true	TolMat_scaffold_339430	3,249	3,504	+	true	true	CM000179.6	111,552,699	111,552,954	-	true	true	CM000378.2	22,062,885	22,063,140	-	true	true	chr4	127,026,726	127,026,981	-	true	true	null	null	null	null	false	false	-	NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN	AGATGGAAGAACAAATGAGACGCCAAAGAGAGGAAAGTTACAGCAGGATGGGCTACATGGATCCAGTAAGTTGTCAAATTTGAGCTGCCTACAGAACTTGTAAGGAGCCCTGGTGGTACATTGGTTAAGCACTCAATTGCTAATTGAAAGGTTGGTGGTTCGAATCCGCCAGCAGAATCCGCTTGTAAAGATTACGGCCTAGGAAACCCTGTGGGGCAGTTCTACTCTGTGATAGGGTCACGGGAGGCAAACAGC	ATTTCCAGGCAAGAGGAAGAACGACGTAGAAGGGAGGAAGAGATGATGATTCGTCAACGTGAGATGGAAGAACAAATGAGACGCCAAAGAGAGGAAAGCTACAGCCGGATGGGCTACATGGATCCAGTAAGTTCACTTTTTTGCAGTCGTTGGAATTTTCTACAGAACTTGTGGGTACCTAGAATGAAGTTTTACCCAGTTAAATGAAAAATGTAATGTCTCACATTATAGCCATTATTTTCTTTATAATAGTTG	TTTCCAGGCAAGAGGAAGAACGACGTAGGAGGGAAGAAGAGATGATGATTCGTCAACGTGAGATGGAAGAACAGATGAGACGCCAAAGAGAGGAAAGTTATAGTCGGATGGGCTATATGGATCCAGTAAGTAAACTTTTGCAATGTAATCGGAGTTTTCTACAGAATTTGTGGATACCTAGGGTGCAGTTTATTCAGTTAAATGTCACTTTTCACATGGTAGCTATTCTACCTTTTTCTTTCTTTCTTTTTAACC	TGGATCCAGTAAGTATACTTCTGTTGTGATCTAATTGGAGTTGTCTATAAAACTTGTAGGTACCTAGAACGAAATGTTACTCAGTTAAGTAGAACATTTTGCATTATAGCTAATTTGTGTGTGTGTGTGAGGAAGACTGGCCCTGAGCTAACATGTGTTGCTAATCTTCTTTTTGCTTGAGGAAGATTGTCCCTGAGCTAACATCTGTGCCAATCTTCCTCTATTTTATATGTGGGACACCGCCACAGTACGGCT	ATGGATGACACTTTGTTTTATATGCCTGAAAAATATTTGTAGGCAAGAGGAGGAACGGCGTAGACGAGAGGAAGAGATGATGATTCGCCAACGTGAGATGGAAGAACAAATGAGACGCCAACGAGAAGAAAGTTACAGCAGGATGGGCTACATGGATCCAGTAAGTTTTTATCCATTGTAAGTGTACACTCACTCAGGCGTGGCTGTTTTGTTTTGTGTGTATAAACTCCTATCAGATCTTGCTGGACCAAATGC	NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN	TAGGCAAGAGGAGGAACGACGTAGAAGAGAGGAAGAGATGATGATTCGTCAACGTGAGATGGAAGAACAAATGAGGCGCCAAAGAGAGGAAAGTTACAGCCGAATGGGCTACATGGATCCAGTAAGTCAGCCTTTACTGCCTTCCAATTGGAGTTGTCTATAGAACTTGCAGGTACCTAGAAGGAATTACAGGAAATTTTAATATCAAATTACAGTTATTTTCTGCTTTTTTTCTAACAAAGTATATTATGTTTG	NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN[SEQ]AGATGGAAGAACAAATGAGACGCCAAAGAGAGGAAAGTTACAGCAGGATGGGCTACATGG...	CAGCCTTTACTGCCTTCCAATTGGAGTTGTCTATAGAACTTGCAGGTACCTAGAAGGAATTACAGGAAATTTTAATATCAAATTACAGTTATTTTCTGCTTTTTTTCTAACAAAGTATATTATGTTTG	TAGCCTTTACTGCCTTCCAATTGGAGTTGTCTATAGAACTTGCAGGTACCTAGAAGGAATTACAGGAAATTTTAATATCAAATTACAGTTATTTTCTGCTTTTTTTCTAACAAAGTATATTATGTTTG	false	true	true	1	35,187,838	35,188,093	-	zoonomia-rag-v1	sge\|1:35187966:G>A\|-
1	35,187,966	G	C	false	splicing	SFPQ	sge	urn:mavedb:00001265-a-1	0.015469	null	null	null	null	C	null	null	null	null	null	null	null	null	null	splicing_variant	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	splice_region_variant	splice_region_variant	ENSG00000116560	6	ENSG00000116560	6	6	ENSG00000116560	splice_region_variant	ENSG00000116560	5,178	ENSG00000116560	75	75	ENSG00000116560	splicing	urn:mavedb:00001265-a-1#80	NC_000001.11:g.35187966G>C	NA	NA	0.015469	chr1	35,187,966	G	SFPQ_X7	SFPQ_X7B	0.006874	0.028942	0.001997	---	p-	p-	functionally_normal	0.00082	0.99918	PASS	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	Cell proliferation assay	Chemical-based transfection	Nuclease	SpCas9	Single-dimensional data	Loss of function	Immortalized human cells	Direct sequencing	Single-segment (short read)	Endogenous locus library method	null	normal	normal	Investigator-provided functional classes	null	1	0.015469	1:35187966:G>C	sge_00000003	35,187,965	35,187,838	35,188,093	CAAACATAATATACTTTGTTAGAAAAAAAGCAGAAAATAACTGTAATTTGATATTAAAATTTCCTGTAATTCCTTCTAGGTACCTGCAAGTTCTATAGACAACTCCAATTGGAAGGCAGTAAAGGCTGACTTACTGGATCCATGTAGCCCATTCGGCTGTAACTTTCCTCTCTTTGGCGCCTCATTTGTTCTTCCATCTCACGTTGACGAATCATCATCTCTTCCTCTCTTCTACGTCGTTCCTCCTCTTGCCTA	zoonomia-rag-direct-hal-v1	null	null	null	null	false	false	GL010061.1	14,197,946	14,198,201	+	true	true	TolMat_scaffold_339430	3,249	3,504	+	true	true	CM000179.6	111,552,699	111,552,954	-	true	true	CM000378.2	22,062,885	22,063,140	-	true	true	chr4	127,026,726	127,026,981	-	true	true	null	null	null	null	false	false	+	NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN	GCTGTTTGCCTCCCGTGACCCTATCACAGAGTAGAACTGCCCCACAGGGTTTCCTAGGCCGTAATCTTTACAAGCGGATTCTGCTGGCGGATTCGAACCACCAACCTTTCAATTAGCAATTGAGTGCTTAACCAATGTACCACCAGGGCTCCTTACAAGTTCTGTAGGCAGCTCAAATTTGACAACTTACTGGATCCATGTAGCCCATCCTGCTGTAACTTTCCTCTCTTTGGCGTCTCATTTGTTCTTCCATCT	CAACTATTATAAAGAAAATAATGGCTATAATGTGAGACATTACATTTTTCATTTAACTGGGTAAAACTTCATTCTAGGTACCCACAAGTTCTGTAGAAAATTCCAACGACTGCAAAAAAGTGAACTTACTGGATCCATGTAGCCCATCCGGCTGTAGCTTTCCTCTCTTTGGCGTCTCATTTGTTCTTCCATCTCACGTTGACGAATCATCATCTCTTCCTCCCTTCTACGTCGTTCTTCCTCTTGCCTGGAAAT	GGTTAAAAAGAAAGAAAGAAAAAGGTAGAATAGCTACCATGTGAAAAGTGACATTTAACTGAATAAACTGCACCCTAGGTATCCACAAATTCTGTAGAAAACTCCGATTACATTGCAAAAGTTTACTTACTGGATCCATATAGCCCATCCGACTATAACTTTCCTCTCTTTGGCGTCTCATCTGTTCTTCCATCTCACGTTGACGAATCATCATCTCTTCTTCCCTCCTACGTCGTTCTTCCTCTTGCCTGGAAA	AGCCGTACTGTGGCGGTGTCCCACATATAAAATAGAGGAAGATTGGCACAGATGTTAGCTCAGGGACAATCTTCCTCAAGCAAAAAGAAGATTAGCAACACATGTTAGCTCAGGGCCAGTCTTCCTCACACACACACACAAATTAGCTATAATGCAAAATGTTCTACTTAACTGAGTAACATTTCGTTCTAGGTACCTACAAGTTTTATAGACAACTCCAATTAGATCACAACAGAAGTATACTTACTGGATCCA	GCATTTGGTCCAGCAAGATCTGATAGGAGTTTATACACACAAAACAAAACAGCCACGCCTGAGTGAGTGTACACTTACAATGGATAAAAACTTACTGGATCCATGTAGCCCATCCTGCTGTAACTTTCTTCTCGTTGGCGTCTCATTTGTTCTTCCATCTCACGTTGGCGAATCATCATCTCTTCCTCTCGTCTACGCCGTTCCTCCTCTTGCCTACAAATATTTTTCAGGCATATAAAACAAAGTGTCATCCAT	NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN	CAAACATAATATACTTTGTTAGAAAAAAAGCAGAAAATAACTGTAATTTGATATTAAAATTTCCTGTAATTCCTTCTAGGTACCTGCAAGTTCTATAGACAACTCCAATTGGAAGGCAGTAAAGGCTGACTTACTGGATCCATGTAGCCCATTCGGCTGTAACTTTCCTCTCTTTGGCGCCTCATTTGTTCTTCCATCTCACGTTGACGAATCATCATCTCTTCCTCTCTTCTACGTCGTTCCTCCTCTTGCCTA	NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN[SEQ]GCTGTTTGCCTCCCGTGACCCTATCACAGAGTAGAACTGCCCCACAGGGTTTCCTAGGCC...	GACTTACTGGATCCATGTAGCCCATTCGGCTGTAACTTTCCTCTCTTTGGCGCCTCATTTGTTCTTCCATCTCACGTTGACGAATCATCATCTCTTCCTCTCTTCTACGTCGTTCCTCCTCTTGCCTA	CACTTACTGGATCCATGTAGCCCATTCGGCTGTAACTTTCCTCTCTTTGGCGCCTCATTTGTTCTTCCATCTCACGTTGACGAATCATCATCTCTTCCTCTCTTCTACGTCGTTCCTCCTCTTGCCTA	false	true	true	1	35,187,838	35,188,093	+	zoonomia-rag-v1	sge\|1:35187966:G>C\|+
1	35,187,966	G	C	false	splicing	SFPQ	sge	urn:mavedb:00001265-a-1	0.015469	null	null	null	null	C	null	null	null	null	null	null	null	null	null	splicing_variant	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	splice_region_variant	splice_region_variant	ENSG00000116560	6	ENSG00000116560	6	6	ENSG00000116560	splice_region_variant	ENSG00000116560	5,178	ENSG00000116560	75	75	ENSG00000116560	splicing	urn:mavedb:00001265-a-1#80	NC_000001.11:g.35187966G>C	NA	NA	0.015469	chr1	35,187,966	G	SFPQ_X7	SFPQ_X7B	0.006874	0.028942	0.001997	---	p-	p-	functionally_normal	0.00082	0.99918	PASS	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	Cell proliferation assay	Chemical-based transfection	Nuclease	SpCas9	Single-dimensional data	Loss of function	Immortalized human cells	Direct sequencing	Single-segment (short read)	Endogenous locus library method	null	normal	normal	Investigator-provided functional classes	null	1	0.015469	1:35187966:G>C	sge_00000003	35,187,965	35,187,838	35,188,093	CAAACATAATATACTTTGTTAGAAAAAAAGCAGAAAATAACTGTAATTTGATATTAAAATTTCCTGTAATTCCTTCTAGGTACCTGCAAGTTCTATAGACAACTCCAATTGGAAGGCAGTAAAGGCTGACTTACTGGATCCATGTAGCCCATTCGGCTGTAACTTTCCTCTCTTTGGCGCCTCATTTGTTCTTCCATCTCACGTTGACGAATCATCATCTCTTCCTCTCTTCTACGTCGTTCCTCCTCTTGCCTA	zoonomia-rag-direct-hal-v1	null	null	null	null	false	false	GL010061.1	14,197,946	14,198,201	+	true	true	TolMat_scaffold_339430	3,249	3,504	+	true	true	CM000179.6	111,552,699	111,552,954	-	true	true	CM000378.2	22,062,885	22,063,140	-	true	true	chr4	127,026,726	127,026,981	-	true	true	null	null	null	null	false	false	-	NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN	AGATGGAAGAACAAATGAGACGCCAAAGAGAGGAAAGTTACAGCAGGATGGGCTACATGGATCCAGTAAGTTGTCAAATTTGAGCTGCCTACAGAACTTGTAAGGAGCCCTGGTGGTACATTGGTTAAGCACTCAATTGCTAATTGAAAGGTTGGTGGTTCGAATCCGCCAGCAGAATCCGCTTGTAAAGATTACGGCCTAGGAAACCCTGTGGGGCAGTTCTACTCTGTGATAGGGTCACGGGAGGCAAACAGC	ATTTCCAGGCAAGAGGAAGAACGACGTAGAAGGGAGGAAGAGATGATGATTCGTCAACGTGAGATGGAAGAACAAATGAGACGCCAAAGAGAGGAAAGCTACAGCCGGATGGGCTACATGGATCCAGTAAGTTCACTTTTTTGCAGTCGTTGGAATTTTCTACAGAACTTGTGGGTACCTAGAATGAAGTTTTACCCAGTTAAATGAAAAATGTAATGTCTCACATTATAGCCATTATTTTCTTTATAATAGTTG	TTTCCAGGCAAGAGGAAGAACGACGTAGGAGGGAAGAAGAGATGATGATTCGTCAACGTGAGATGGAAGAACAGATGAGACGCCAAAGAGAGGAAAGTTATAGTCGGATGGGCTATATGGATCCAGTAAGTAAACTTTTGCAATGTAATCGGAGTTTTCTACAGAATTTGTGGATACCTAGGGTGCAGTTTATTCAGTTAAATGTCACTTTTCACATGGTAGCTATTCTACCTTTTTCTTTCTTTCTTTTTAACC	TGGATCCAGTAAGTATACTTCTGTTGTGATCTAATTGGAGTTGTCTATAAAACTTGTAGGTACCTAGAACGAAATGTTACTCAGTTAAGTAGAACATTTTGCATTATAGCTAATTTGTGTGTGTGTGTGAGGAAGACTGGCCCTGAGCTAACATGTGTTGCTAATCTTCTTTTTGCTTGAGGAAGATTGTCCCTGAGCTAACATCTGTGCCAATCTTCCTCTATTTTATATGTGGGACACCGCCACAGTACGGCT	ATGGATGACACTTTGTTTTATATGCCTGAAAAATATTTGTAGGCAAGAGGAGGAACGGCGTAGACGAGAGGAAGAGATGATGATTCGCCAACGTGAGATGGAAGAACAAATGAGACGCCAACGAGAAGAAAGTTACAGCAGGATGGGCTACATGGATCCAGTAAGTTTTTATCCATTGTAAGTGTACACTCACTCAGGCGTGGCTGTTTTGTTTTGTGTGTATAAACTCCTATCAGATCTTGCTGGACCAAATGC	NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN	TAGGCAAGAGGAGGAACGACGTAGAAGAGAGGAAGAGATGATGATTCGTCAACGTGAGATGGAAGAACAAATGAGGCGCCAAAGAGAGGAAAGTTACAGCCGAATGGGCTACATGGATCCAGTAAGTCAGCCTTTACTGCCTTCCAATTGGAGTTGTCTATAGAACTTGCAGGTACCTAGAAGGAATTACAGGAAATTTTAATATCAAATTACAGTTATTTTCTGCTTTTTTTCTAACAAAGTATATTATGTTTG	NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN[SEQ]AGATGGAAGAACAAATGAGACGCCAAAGAGAGGAAAGTTACAGCAGGATGGGCTACATGG...	CAGCCTTTACTGCCTTCCAATTGGAGTTGTCTATAGAACTTGCAGGTACCTAGAAGGAATTACAGGAAATTTTAATATCAAATTACAGTTATTTTCTGCTTTTTTTCTAACAAAGTATATTATGTTTG	GAGCCTTTACTGCCTTCCAATTGGAGTTGTCTATAGAACTTGCAGGTACCTAGAAGGAATTACAGGAAATTTTAATATCAAATTACAGTTATTTTCTGCTTTTTTTCTAACAAAGTATATTATGTTTG	false	true	true	1	35,187,838	35,188,093	-	zoonomia-rag-v1	sge\|1:35187966:G>C\|-
1	35,187,966	G	T	false	splicing	SFPQ	sge	urn:mavedb:00001265-a-1	0.009015	null	null	null	null	T	null	null	null	null	null	null	null	null	null	splicing_variant	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	splice_region_variant	splice_region_variant	ENSG00000116560	6	ENSG00000116560	6	6	ENSG00000116560	splice_region_variant	ENSG00000116560	5,178	ENSG00000116560	75	75	ENSG00000116560	splicing	urn:mavedb:00001265-a-1#81	NC_000001.11:g.35187966G>T	NA	NA	0.009015	chr1	35,187,966	G	SFPQ_X7	SFPQ_X7B	0.014983	0.038381	-0.020351	---	p-	p-	functionally_normal	0.00098	0.99902	PASS	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	Cell proliferation assay	Chemical-based transfection	Nuclease	SpCas9	Single-dimensional data	Loss of function	Immortalized human cells	Direct sequencing	Single-segment (short read)	Endogenous locus library method	null	normal	normal	Investigator-provided functional classes	null	1	0.009015	1:35187966:G>T	sge_00000004	35,187,965	35,187,838	35,188,093	CAAACATAATATACTTTGTTAGAAAAAAAGCAGAAAATAACTGTAATTTGATATTAAAATTTCCTGTAATTCCTTCTAGGTACCTGCAAGTTCTATAGACAACTCCAATTGGAAGGCAGTAAAGGCTGACTTACTGGATCCATGTAGCCCATTCGGCTGTAACTTTCCTCTCTTTGGCGCCTCATTTGTTCTTCCATCTCACGTTGACGAATCATCATCTCTTCCTCTCTTCTACGTCGTTCCTCCTCTTGCCTA	zoonomia-rag-direct-hal-v1	null	null	null	null	false	false	GL010061.1	14,197,946	14,198,201	+	true	true	TolMat_scaffold_339430	3,249	3,504	+	true	true	CM000179.6	111,552,699	111,552,954	-	true	true	CM000378.2	22,062,885	22,063,140	-	true	true	chr4	127,026,726	127,026,981	-	true	true	null	null	null	null	false	false	+	NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN	GCTGTTTGCCTCCCGTGACCCTATCACAGAGTAGAACTGCCCCACAGGGTTTCCTAGGCCGTAATCTTTACAAGCGGATTCTGCTGGCGGATTCGAACCACCAACCTTTCAATTAGCAATTGAGTGCTTAACCAATGTACCACCAGGGCTCCTTACAAGTTCTGTAGGCAGCTCAAATTTGACAACTTACTGGATCCATGTAGCCCATCCTGCTGTAACTTTCCTCTCTTTGGCGTCTCATTTGTTCTTCCATCT	CAACTATTATAAAGAAAATAATGGCTATAATGTGAGACATTACATTTTTCATTTAACTGGGTAAAACTTCATTCTAGGTACCCACAAGTTCTGTAGAAAATTCCAACGACTGCAAAAAAGTGAACTTACTGGATCCATGTAGCCCATCCGGCTGTAGCTTTCCTCTCTTTGGCGTCTCATTTGTTCTTCCATCTCACGTTGACGAATCATCATCTCTTCCTCCCTTCTACGTCGTTCTTCCTCTTGCCTGGAAAT	GGTTAAAAAGAAAGAAAGAAAAAGGTAGAATAGCTACCATGTGAAAAGTGACATTTAACTGAATAAACTGCACCCTAGGTATCCACAAATTCTGTAGAAAACTCCGATTACATTGCAAAAGTTTACTTACTGGATCCATATAGCCCATCCGACTATAACTTTCCTCTCTTTGGCGTCTCATCTGTTCTTCCATCTCACGTTGACGAATCATCATCTCTTCTTCCCTCCTACGTCGTTCTTCCTCTTGCCTGGAAA	AGCCGTACTGTGGCGGTGTCCCACATATAAAATAGAGGAAGATTGGCACAGATGTTAGCTCAGGGACAATCTTCCTCAAGCAAAAAGAAGATTAGCAACACATGTTAGCTCAGGGCCAGTCTTCCTCACACACACACACAAATTAGCTATAATGCAAAATGTTCTACTTAACTGAGTAACATTTCGTTCTAGGTACCTACAAGTTTTATAGACAACTCCAATTAGATCACAACAGAAGTATACTTACTGGATCCA	GCATTTGGTCCAGCAAGATCTGATAGGAGTTTATACACACAAAACAAAACAGCCACGCCTGAGTGAGTGTACACTTACAATGGATAAAAACTTACTGGATCCATGTAGCCCATCCTGCTGTAACTTTCTTCTCGTTGGCGTCTCATTTGTTCTTCCATCTCACGTTGGCGAATCATCATCTCTTCCTCTCGTCTACGCCGTTCCTCCTCTTGCCTACAAATATTTTTCAGGCATATAAAACAAAGTGTCATCCAT	NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN	CAAACATAATATACTTTGTTAGAAAAAAAGCAGAAAATAACTGTAATTTGATATTAAAATTTCCTGTAATTCCTTCTAGGTACCTGCAAGTTCTATAGACAACTCCAATTGGAAGGCAGTAAAGGCTGACTTACTGGATCCATGTAGCCCATTCGGCTGTAACTTTCCTCTCTTTGGCGCCTCATTTGTTCTTCCATCTCACGTTGACGAATCATCATCTCTTCCTCTCTTCTACGTCGTTCCTCCTCTTGCCTA	NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN[SEQ]GCTGTTTGCCTCCCGTGACCCTATCACAGAGTAGAACTGCCCCACAGGGTTTCCTAGGCC...	GACTTACTGGATCCATGTAGCCCATTCGGCTGTAACTTTCCTCTCTTTGGCGCCTCATTTGTTCTTCCATCTCACGTTGACGAATCATCATCTCTTCCTCTCTTCTACGTCGTTCCTCCTCTTGCCTA	TACTTACTGGATCCATGTAGCCCATTCGGCTGTAACTTTCCTCTCTTTGGCGCCTCATTTGTTCTTCCATCTCACGTTGACGAATCATCATCTCTTCCTCTCTTCTACGTCGTTCCTCCTCTTGCCTA	false	true	true	1	35,187,838	35,188,093	+	zoonomia-rag-v1	sge\|1:35187966:G>T\|+
1	35,187,966	G	T	false	splicing	SFPQ	sge	urn:mavedb:00001265-a-1	0.009015	null	null	null	null	T	null	null	null	null	null	null	null	null	null	splicing_variant	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	splice_region_variant	splice_region_variant	ENSG00000116560	6	ENSG00000116560	6	6	ENSG00000116560	splice_region_variant	ENSG00000116560	5,178	ENSG00000116560	75	75	ENSG00000116560	splicing	urn:mavedb:00001265-a-1#81	NC_000001.11:g.35187966G>T	NA	NA	0.009015	chr1	35,187,966	G	SFPQ_X7	SFPQ_X7B	0.014983	0.038381	-0.020351	---	p-	p-	functionally_normal	0.00098	0.99902	PASS	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	Cell proliferation assay	Chemical-based transfection	Nuclease	SpCas9	Single-dimensional data	Loss of function	Immortalized human cells	Direct sequencing	Single-segment (short read)	Endogenous locus library method	null	normal	normal	Investigator-provided functional classes	null	1	0.009015	1:35187966:G>T	sge_00000004	35,187,965	35,187,838	35,188,093	CAAACATAATATACTTTGTTAGAAAAAAAGCAGAAAATAACTGTAATTTGATATTAAAATTTCCTGTAATTCCTTCTAGGTACCTGCAAGTTCTATAGACAACTCCAATTGGAAGGCAGTAAAGGCTGACTTACTGGATCCATGTAGCCCATTCGGCTGTAACTTTCCTCTCTTTGGCGCCTCATTTGTTCTTCCATCTCACGTTGACGAATCATCATCTCTTCCTCTCTTCTACGTCGTTCCTCCTCTTGCCTA	zoonomia-rag-direct-hal-v1	null	null	null	null	false	false	GL010061.1	14,197,946	14,198,201	+	true	true	TolMat_scaffold_339430	3,249	3,504	+	true	true	CM000179.6	111,552,699	111,552,954	-	true	true	CM000378.2	22,062,885	22,063,140	-	true	true	chr4	127,026,726	127,026,981	-	true	true	null	null	null	null	false	false	-	NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN	AGATGGAAGAACAAATGAGACGCCAAAGAGAGGAAAGTTACAGCAGGATGGGCTACATGGATCCAGTAAGTTGTCAAATTTGAGCTGCCTACAGAACTTGTAAGGAGCCCTGGTGGTACATTGGTTAAGCACTCAATTGCTAATTGAAAGGTTGGTGGTTCGAATCCGCCAGCAGAATCCGCTTGTAAAGATTACGGCCTAGGAAACCCTGTGGGGCAGTTCTACTCTGTGATAGGGTCACGGGAGGCAAACAGC	ATTTCCAGGCAAGAGGAAGAACGACGTAGAAGGGAGGAAGAGATGATGATTCGTCAACGTGAGATGGAAGAACAAATGAGACGCCAAAGAGAGGAAAGCTACAGCCGGATGGGCTACATGGATCCAGTAAGTTCACTTTTTTGCAGTCGTTGGAATTTTCTACAGAACTTGTGGGTACCTAGAATGAAGTTTTACCCAGTTAAATGAAAAATGTAATGTCTCACATTATAGCCATTATTTTCTTTATAATAGTTG	TTTCCAGGCAAGAGGAAGAACGACGTAGGAGGGAAGAAGAGATGATGATTCGTCAACGTGAGATGGAAGAACAGATGAGACGCCAAAGAGAGGAAAGTTATAGTCGGATGGGCTATATGGATCCAGTAAGTAAACTTTTGCAATGTAATCGGAGTTTTCTACAGAATTTGTGGATACCTAGGGTGCAGTTTATTCAGTTAAATGTCACTTTTCACATGGTAGCTATTCTACCTTTTTCTTTCTTTCTTTTTAACC	TGGATCCAGTAAGTATACTTCTGTTGTGATCTAATTGGAGTTGTCTATAAAACTTGTAGGTACCTAGAACGAAATGTTACTCAGTTAAGTAGAACATTTTGCATTATAGCTAATTTGTGTGTGTGTGTGAGGAAGACTGGCCCTGAGCTAACATGTGTTGCTAATCTTCTTTTTGCTTGAGGAAGATTGTCCCTGAGCTAACATCTGTGCCAATCTTCCTCTATTTTATATGTGGGACACCGCCACAGTACGGCT	ATGGATGACACTTTGTTTTATATGCCTGAAAAATATTTGTAGGCAAGAGGAGGAACGGCGTAGACGAGAGGAAGAGATGATGATTCGCCAACGTGAGATGGAAGAACAAATGAGACGCCAACGAGAAGAAAGTTACAGCAGGATGGGCTACATGGATCCAGTAAGTTTTTATCCATTGTAAGTGTACACTCACTCAGGCGTGGCTGTTTTGTTTTGTGTGTATAAACTCCTATCAGATCTTGCTGGACCAAATGC	NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN	TAGGCAAGAGGAGGAACGACGTAGAAGAGAGGAAGAGATGATGATTCGTCAACGTGAGATGGAAGAACAAATGAGGCGCCAAAGAGAGGAAAGTTACAGCCGAATGGGCTACATGGATCCAGTAAGTCAGCCTTTACTGCCTTCCAATTGGAGTTGTCTATAGAACTTGCAGGTACCTAGAAGGAATTACAGGAAATTTTAATATCAAATTACAGTTATTTTCTGCTTTTTTTCTAACAAAGTATATTATGTTTG	NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN[SEQ]AGATGGAAGAACAAATGAGACGCCAAAGAGAGGAAAGTTACAGCAGGATGGGCTACATGG...	CAGCCTTTACTGCCTTCCAATTGGAGTTGTCTATAGAACTTGCAGGTACCTAGAAGGAATTACAGGAAATTTTAATATCAAATTACAGTTATTTTCTGCTTTTTTTCTAACAAAGTATATTATGTTTG	AAGCCTTTACTGCCTTCCAATTGGAGTTGTCTATAGAACTTGCAGGTACCTAGAAGGAATTACAGGAAATTTTAATATCAAATTACAGTTATTTTCTGCTTTTTTTCTAACAAAGTATATTATGTTTG	false	true	true	1	35,187,838	35,188,093	-	zoonomia-rag-v1	sge\|1:35187966:G>T\|-
1	35,187,967	A	C	true	splicing	SFPQ	sge	urn:mavedb:00001265-a-1	-0.166176	null	null	null	null	C	null	null	null	null	null	null	null	null	null	splicing_variant	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	splice_donor_region_variant	splice_donor_region_variant	ENSG00000116560	5	ENSG00000116560	5	5	ENSG00000116560	splice_donor_region_variant	ENSG00000116560	5,177	ENSG00000116560	74	74	ENSG00000116560	splicing	urn:mavedb:00001265-a-1#82	NC_000001.11:g.35187967A>C	NA	NA	-0.166176	chr1	35,187,967	A	SFPQ_X7	SFPQ_X7B	0.066515	-0.035806	-0.296546	---	p-	p-	functionally_abnormal	1	0	PASS	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	Cell proliferation assay	Chemical-based transfection	Nuclease	SpCas9	Single-dimensional data	Loss of function	Immortalized human cells	Direct sequencing	Single-segment (short read)	Endogenous locus library method	null	abnormal	abnormal	Investigator-provided functional classes	null	1	-0.166176	1:35187967:A>C	sge_00000005	35,187,966	35,187,839	35,188,094	AAACATAATATACTTTGTTAGAAAAAAAGCAGAAAATAACTGTAATTTGATATTAAAATTTCCTGTAATTCCTTCTAGGTACCTGCAAGTTCTATAGACAACTCCAATTGGAAGGCAGTAAAGGCTGACTTACTGGATCCATGTAGCCCATTCGGCTGTAACTTTCCTCTCTTTGGCGCCTCATTTGTTCTTCCATCTCACGTTGACGAATCATCATCTCTTCCTCTCTTCTACGTCGTTCCTCCTCTTGCCTAG	zoonomia-rag-direct-hal-v1	null	null	null	null	false	false	GL010061.1	14,197,947	14,198,202	+	true	true	TolMat_scaffold_339430	3,250	3,505	+	true	true	CM000179.6	111,552,698	111,552,953	-	true	true	CM000378.2	22,062,885	22,063,140	-	true	true	chr4	127,026,725	127,026,980	-	true	true	null	null	null	null	false	false	+	NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN	CTGTTTGCCTCCCGTGACCCTATCACAGAGTAGAACTGCCCCACAGGGTTTCCTAGGCCGTAATCTTTACAAGCGGATTCTGCTGGCGGATTCGAACCACCAACCTTTCAATTAGCAATTGAGTGCTTAACCAATGTACCACCAGGGCTCCTTACAAGTTCTGTAGGCAGCTCAAATTTGACAACTTACTGGATCCATGTAGCCCATCCTGCTGTAACTTTCCTCTCTTTGGCGTCTCATTTGTTCTTCCATCTC	AACTATTATAAAGAAAATAATGGCTATAATGTGAGACATTACATTTTTCATTTAACTGGGTAAAACTTCATTCTAGGTACCCACAAGTTCTGTAGAAAATTCCAACGACTGCAAAAAAGTGAACTTACTGGATCCATGTAGCCCATCCGGCTGTAGCTTTCCTCTCTTTGGCGTCTCATTTGTTCTTCCATCTCACGTTGACGAATCATCATCTCTTCCTCCCTTCTACGTCGTTCTTCCTCTTGCCTGGAAATA	GTTAAAAAGAAAGAAAGAAAAAGGTAGAATAGCTACCATGTGAAAAGTGACATTTAACTGAATAAACTGCACCCTAGGTATCCACAAATTCTGTAGAAAACTCCGATTACATTGCAAAAGTTTACTTACTGGATCCATATAGCCCATCCGACTATAACTTTCCTCTCTTTGGCGTCTCATCTGTTCTTCCATCTCACGTTGACGAATCATCATCTCTTCTTCCCTCCTACGTCGTTCTTCCTCTTGCCTGGAAAT	AGCCGTACTGTGGCGGTGTCCCACATATAAAATAGAGGAAGATTGGCACAGATGTTAGCTCAGGGACAATCTTCCTCAAGCAAAAAGAAGATTAGCAACACATGTTAGCTCAGGGCCAGTCTTCCTCACACACACACACAAATTAGCTATAATGCAAAATGTTCTACTTAACTGAGTAACATTTCGTTCTAGGTACCTACAAGTTTTATAGACAACTCCAATTAGATCACAACAGAAGTATACTTACTGGATCCA	CATTTGGTCCAGCAAGATCTGATAGGAGTTTATACACACAAAACAAAACAGCCACGCCTGAGTGAGTGTACACTTACAATGGATAAAAACTTACTGGATCCATGTAGCCCATCCTGCTGTAACTTTCTTCTCGTTGGCGTCTCATTTGTTCTTCCATCTCACGTTGGCGAATCATCATCTCTTCCTCTCGTCTACGCCGTTCCTCCTCTTGCCTACAAATATTTTTCAGGCATATAAAACAAAGTGTCATCCATG	NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN	AAACATAATATACTTTGTTAGAAAAAAAGCAGAAAATAACTGTAATTTGATATTAAAATTTCCTGTAATTCCTTCTAGGTACCTGCAAGTTCTATAGACAACTCCAATTGGAAGGCAGTAAAGGCTGACTTACTGGATCCATGTAGCCCATTCGGCTGTAACTTTCCTCTCTTTGGCGCCTCATTTGTTCTTCCATCTCACGTTGACGAATCATCATCTCTTCCTCTCTTCTACGTCGTTCCTCCTCTTGCCTAG	NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN[SEQ]CTGTTTGCCTCCCGTGACCCTATCACAGAGTAGAACTGCCCCACAGGGTTTCCTAGGCCG...	ACTTACTGGATCCATGTAGCCCATTCGGCTGTAACTTTCCTCTCTTTGGCGCCTCATTTGTTCTTCCATCTCACGTTGACGAATCATCATCTCTTCCTCTCTTCTACGTCGTTCCTCCTCTTGCCTAG	CCTTACTGGATCCATGTAGCCCATTCGGCTGTAACTTTCCTCTCTTTGGCGCCTCATTTGTTCTTCCATCTCACGTTGACGAATCATCATCTCTTCCTCTCTTCTACGTCGTTCCTCCTCTTGCCTAG	true	true	true	1	35,187,839	35,188,094	+	zoonomia-rag-v1	sge\|1:35187967:A>C\|+
1	35,187,967	A	C	true	splicing	SFPQ	sge	urn:mavedb:00001265-a-1	-0.166176	null	null	null	null	C	null	null	null	null	null	null	null	null	null	splicing_variant	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	splice_donor_region_variant	splice_donor_region_variant	ENSG00000116560	5	ENSG00000116560	5	5	ENSG00000116560	splice_donor_region_variant	ENSG00000116560	5,177	ENSG00000116560	74	74	ENSG00000116560	splicing	urn:mavedb:00001265-a-1#82	NC_000001.11:g.35187967A>C	NA	NA	-0.166176	chr1	35,187,967	A	SFPQ_X7	SFPQ_X7B	0.066515	-0.035806	-0.296546	---	p-	p-	functionally_abnormal	1	0	PASS	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	Cell proliferation assay	Chemical-based transfection	Nuclease	SpCas9	Single-dimensional data	Loss of function	Immortalized human cells	Direct sequencing	Single-segment (short read)	Endogenous locus library method	null	abnormal	abnormal	Investigator-provided functional classes	null	1	-0.166176	1:35187967:A>C	sge_00000005	35,187,966	35,187,839	35,188,094	AAACATAATATACTTTGTTAGAAAAAAAGCAGAAAATAACTGTAATTTGATATTAAAATTTCCTGTAATTCCTTCTAGGTACCTGCAAGTTCTATAGACAACTCCAATTGGAAGGCAGTAAAGGCTGACTTACTGGATCCATGTAGCCCATTCGGCTGTAACTTTCCTCTCTTTGGCGCCTCATTTGTTCTTCCATCTCACGTTGACGAATCATCATCTCTTCCTCTCTTCTACGTCGTTCCTCCTCTTGCCTAG	zoonomia-rag-direct-hal-v1	null	null	null	null	false	false	GL010061.1	14,197,947	14,198,202	+	true	true	TolMat_scaffold_339430	3,250	3,505	+	true	true	CM000179.6	111,552,698	111,552,953	-	true	true	CM000378.2	22,062,885	22,063,140	-	true	true	chr4	127,026,725	127,026,980	-	true	true	null	null	null	null	false	false	-	NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN	GAGATGGAAGAACAAATGAGACGCCAAAGAGAGGAAAGTTACAGCAGGATGGGCTACATGGATCCAGTAAGTTGTCAAATTTGAGCTGCCTACAGAACTTGTAAGGAGCCCTGGTGGTACATTGGTTAAGCACTCAATTGCTAATTGAAAGGTTGGTGGTTCGAATCCGCCAGCAGAATCCGCTTGTAAAGATTACGGCCTAGGAAACCCTGTGGGGCAGTTCTACTCTGTGATAGGGTCACGGGAGGCAAACAG	TATTTCCAGGCAAGAGGAAGAACGACGTAGAAGGGAGGAAGAGATGATGATTCGTCAACGTGAGATGGAAGAACAAATGAGACGCCAAAGAGAGGAAAGCTACAGCCGGATGGGCTACATGGATCCAGTAAGTTCACTTTTTTGCAGTCGTTGGAATTTTCTACAGAACTTGTGGGTACCTAGAATGAAGTTTTACCCAGTTAAATGAAAAATGTAATGTCTCACATTATAGCCATTATTTTCTTTATAATAGTT	ATTTCCAGGCAAGAGGAAGAACGACGTAGGAGGGAAGAAGAGATGATGATTCGTCAACGTGAGATGGAAGAACAGATGAGACGCCAAAGAGAGGAAAGTTATAGTCGGATGGGCTATATGGATCCAGTAAGTAAACTTTTGCAATGTAATCGGAGTTTTCTACAGAATTTGTGGATACCTAGGGTGCAGTTTATTCAGTTAAATGTCACTTTTCACATGGTAGCTATTCTACCTTTTTCTTTCTTTCTTTTTAAC	TGGATCCAGTAAGTATACTTCTGTTGTGATCTAATTGGAGTTGTCTATAAAACTTGTAGGTACCTAGAACGAAATGTTACTCAGTTAAGTAGAACATTTTGCATTATAGCTAATTTGTGTGTGTGTGTGAGGAAGACTGGCCCTGAGCTAACATGTGTTGCTAATCTTCTTTTTGCTTGAGGAAGATTGTCCCTGAGCTAACATCTGTGCCAATCTTCCTCTATTTTATATGTGGGACACCGCCACAGTACGGCT	CATGGATGACACTTTGTTTTATATGCCTGAAAAATATTTGTAGGCAAGAGGAGGAACGGCGTAGACGAGAGGAAGAGATGATGATTCGCCAACGTGAGATGGAAGAACAAATGAGACGCCAACGAGAAGAAAGTTACAGCAGGATGGGCTACATGGATCCAGTAAGTTTTTATCCATTGTAAGTGTACACTCACTCAGGCGTGGCTGTTTTGTTTTGTGTGTATAAACTCCTATCAGATCTTGCTGGACCAAATG	NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN	CTAGGCAAGAGGAGGAACGACGTAGAAGAGAGGAAGAGATGATGATTCGTCAACGTGAGATGGAAGAACAAATGAGGCGCCAAAGAGAGGAAAGTTACAGCCGAATGGGCTACATGGATCCAGTAAGTCAGCCTTTACTGCCTTCCAATTGGAGTTGTCTATAGAACTTGCAGGTACCTAGAAGGAATTACAGGAAATTTTAATATCAAATTACAGTTATTTTCTGCTTTTTTTCTAACAAAGTATATTATGTTT	NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN[SEQ]GAGATGGAAGAACAAATGAGACGCCAAAGAGAGGAAAGTTACAGCAGGATGGGCTACATG...	TCAGCCTTTACTGCCTTCCAATTGGAGTTGTCTATAGAACTTGCAGGTACCTAGAAGGAATTACAGGAAATTTTAATATCAAATTACAGTTATTTTCTGCTTTTTTTCTAACAAAGTATATTATGTTT	GCAGCCTTTACTGCCTTCCAATTGGAGTTGTCTATAGAACTTGCAGGTACCTAGAAGGAATTACAGGAAATTTTAATATCAAATTACAGTTATTTTCTGCTTTTTTTCTAACAAAGTATATTATGTTT	true	true	true	1	35,187,839	35,188,094	-	zoonomia-rag-v1	sge\|1:35187967:A>C\|-
1	35,187,967	A	G	true	splicing	SFPQ	sge	urn:mavedb:00001265-a-1	-0.122606	null	null	null	null	G	null	null	null	null	null	null	null	null	null	splicing_variant	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	splice_donor_region_variant	splice_donor_region_variant	ENSG00000116560	5	ENSG00000116560	5	5	ENSG00000116560	splice_donor_region_variant	ENSG00000116560	5,177	ENSG00000116560	74	74	ENSG00000116560	splicing	urn:mavedb:00001265-a-1#83	NC_000001.11:g.35187967A>G	NA	NA	-0.122606	chr1	35,187,967	A	SFPQ_X7	SFPQ_X7B	0.067752	0.010187	-0.255399	---	p-	p-	functionally_abnormal	1	0	PASS	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	Cell proliferation assay	Chemical-based transfection	Nuclease	SpCas9	Single-dimensional data	Loss of function	Immortalized human cells	Direct sequencing	Single-segment (short read)	Endogenous locus library method	null	abnormal	abnormal	Investigator-provided functional classes	null	1	-0.122606	1:35187967:A>G	sge_00000006	35,187,966	35,187,839	35,188,094	AAACATAATATACTTTGTTAGAAAAAAAGCAGAAAATAACTGTAATTTGATATTAAAATTTCCTGTAATTCCTTCTAGGTACCTGCAAGTTCTATAGACAACTCCAATTGGAAGGCAGTAAAGGCTGACTTACTGGATCCATGTAGCCCATTCGGCTGTAACTTTCCTCTCTTTGGCGCCTCATTTGTTCTTCCATCTCACGTTGACGAATCATCATCTCTTCCTCTCTTCTACGTCGTTCCTCCTCTTGCCTAG	zoonomia-rag-direct-hal-v1	null	null	null	null	false	false	GL010061.1	14,197,947	14,198,202	+	true	true	TolMat_scaffold_339430	3,250	3,505	+	true	true	CM000179.6	111,552,698	111,552,953	-	true	true	CM000378.2	22,062,885	22,063,140	-	true	true	chr4	127,026,725	127,026,980	-	true	true	null	null	null	null	false	false	+	NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN	CTGTTTGCCTCCCGTGACCCTATCACAGAGTAGAACTGCCCCACAGGGTTTCCTAGGCCGTAATCTTTACAAGCGGATTCTGCTGGCGGATTCGAACCACCAACCTTTCAATTAGCAATTGAGTGCTTAACCAATGTACCACCAGGGCTCCTTACAAGTTCTGTAGGCAGCTCAAATTTGACAACTTACTGGATCCATGTAGCCCATCCTGCTGTAACTTTCCTCTCTTTGGCGTCTCATTTGTTCTTCCATCTC	AACTATTATAAAGAAAATAATGGCTATAATGTGAGACATTACATTTTTCATTTAACTGGGTAAAACTTCATTCTAGGTACCCACAAGTTCTGTAGAAAATTCCAACGACTGCAAAAAAGTGAACTTACTGGATCCATGTAGCCCATCCGGCTGTAGCTTTCCTCTCTTTGGCGTCTCATTTGTTCTTCCATCTCACGTTGACGAATCATCATCTCTTCCTCCCTTCTACGTCGTTCTTCCTCTTGCCTGGAAATA	GTTAAAAAGAAAGAAAGAAAAAGGTAGAATAGCTACCATGTGAAAAGTGACATTTAACTGAATAAACTGCACCCTAGGTATCCACAAATTCTGTAGAAAACTCCGATTACATTGCAAAAGTTTACTTACTGGATCCATATAGCCCATCCGACTATAACTTTCCTCTCTTTGGCGTCTCATCTGTTCTTCCATCTCACGTTGACGAATCATCATCTCTTCTTCCCTCCTACGTCGTTCTTCCTCTTGCCTGGAAAT	AGCCGTACTGTGGCGGTGTCCCACATATAAAATAGAGGAAGATTGGCACAGATGTTAGCTCAGGGACAATCTTCCTCAAGCAAAAAGAAGATTAGCAACACATGTTAGCTCAGGGCCAGTCTTCCTCACACACACACACAAATTAGCTATAATGCAAAATGTTCTACTTAACTGAGTAACATTTCGTTCTAGGTACCTACAAGTTTTATAGACAACTCCAATTAGATCACAACAGAAGTATACTTACTGGATCCA	CATTTGGTCCAGCAAGATCTGATAGGAGTTTATACACACAAAACAAAACAGCCACGCCTGAGTGAGTGTACACTTACAATGGATAAAAACTTACTGGATCCATGTAGCCCATCCTGCTGTAACTTTCTTCTCGTTGGCGTCTCATTTGTTCTTCCATCTCACGTTGGCGAATCATCATCTCTTCCTCTCGTCTACGCCGTTCCTCCTCTTGCCTACAAATATTTTTCAGGCATATAAAACAAAGTGTCATCCATG	NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN	AAACATAATATACTTTGTTAGAAAAAAAGCAGAAAATAACTGTAATTTGATATTAAAATTTCCTGTAATTCCTTCTAGGTACCTGCAAGTTCTATAGACAACTCCAATTGGAAGGCAGTAAAGGCTGACTTACTGGATCCATGTAGCCCATTCGGCTGTAACTTTCCTCTCTTTGGCGCCTCATTTGTTCTTCCATCTCACGTTGACGAATCATCATCTCTTCCTCTCTTCTACGTCGTTCCTCCTCTTGCCTAG	NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN[SEQ]CTGTTTGCCTCCCGTGACCCTATCACAGAGTAGAACTGCCCCACAGGGTTTCCTAGGCCG...	ACTTACTGGATCCATGTAGCCCATTCGGCTGTAACTTTCCTCTCTTTGGCGCCTCATTTGTTCTTCCATCTCACGTTGACGAATCATCATCTCTTCCTCTCTTCTACGTCGTTCCTCCTCTTGCCTAG	GCTTACTGGATCCATGTAGCCCATTCGGCTGTAACTTTCCTCTCTTTGGCGCCTCATTTGTTCTTCCATCTCACGTTGACGAATCATCATCTCTTCCTCTCTTCTACGTCGTTCCTCCTCTTGCCTAG	true	true	true	1	35,187,839	35,188,094	+	zoonomia-rag-v1	sge\|1:35187967:A>G\|+
1	35,187,967	A	G	true	splicing	SFPQ	sge	urn:mavedb:00001265-a-1	-0.122606	null	null	null	null	G	null	null	null	null	null	null	null	null	null	splicing_variant	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	splice_donor_region_variant	splice_donor_region_variant	ENSG00000116560	5	ENSG00000116560	5	5	ENSG00000116560	splice_donor_region_variant	ENSG00000116560	5,177	ENSG00000116560	74	74	ENSG00000116560	splicing	urn:mavedb:00001265-a-1#83	NC_000001.11:g.35187967A>G	NA	NA	-0.122606	chr1	35,187,967	A	SFPQ_X7	SFPQ_X7B	0.067752	0.010187	-0.255399	---	p-	p-	functionally_abnormal	1	0	PASS	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	Cell proliferation assay	Chemical-based transfection	Nuclease	SpCas9	Single-dimensional data	Loss of function	Immortalized human cells	Direct sequencing	Single-segment (short read)	Endogenous locus library method	null	abnormal	abnormal	Investigator-provided functional classes	null	1	-0.122606	1:35187967:A>G	sge_00000006	35,187,966	35,187,839	35,188,094	AAACATAATATACTTTGTTAGAAAAAAAGCAGAAAATAACTGTAATTTGATATTAAAATTTCCTGTAATTCCTTCTAGGTACCTGCAAGTTCTATAGACAACTCCAATTGGAAGGCAGTAAAGGCTGACTTACTGGATCCATGTAGCCCATTCGGCTGTAACTTTCCTCTCTTTGGCGCCTCATTTGTTCTTCCATCTCACGTTGACGAATCATCATCTCTTCCTCTCTTCTACGTCGTTCCTCCTCTTGCCTAG	zoonomia-rag-direct-hal-v1	null	null	null	null	false	false	GL010061.1	14,197,947	14,198,202	+	true	true	TolMat_scaffold_339430	3,250	3,505	+	true	true	CM000179.6	111,552,698	111,552,953	-	true	true	CM000378.2	22,062,885	22,063,140	-	true	true	chr4	127,026,725	127,026,980	-	true	true	null	null	null	null	false	false	-	NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN	GAGATGGAAGAACAAATGAGACGCCAAAGAGAGGAAAGTTACAGCAGGATGGGCTACATGGATCCAGTAAGTTGTCAAATTTGAGCTGCCTACAGAACTTGTAAGGAGCCCTGGTGGTACATTGGTTAAGCACTCAATTGCTAATTGAAAGGTTGGTGGTTCGAATCCGCCAGCAGAATCCGCTTGTAAAGATTACGGCCTAGGAAACCCTGTGGGGCAGTTCTACTCTGTGATAGGGTCACGGGAGGCAAACAG	TATTTCCAGGCAAGAGGAAGAACGACGTAGAAGGGAGGAAGAGATGATGATTCGTCAACGTGAGATGGAAGAACAAATGAGACGCCAAAGAGAGGAAAGCTACAGCCGGATGGGCTACATGGATCCAGTAAGTTCACTTTTTTGCAGTCGTTGGAATTTTCTACAGAACTTGTGGGTACCTAGAATGAAGTTTTACCCAGTTAAATGAAAAATGTAATGTCTCACATTATAGCCATTATTTTCTTTATAATAGTT	ATTTCCAGGCAAGAGGAAGAACGACGTAGGAGGGAAGAAGAGATGATGATTCGTCAACGTGAGATGGAAGAACAGATGAGACGCCAAAGAGAGGAAAGTTATAGTCGGATGGGCTATATGGATCCAGTAAGTAAACTTTTGCAATGTAATCGGAGTTTTCTACAGAATTTGTGGATACCTAGGGTGCAGTTTATTCAGTTAAATGTCACTTTTCACATGGTAGCTATTCTACCTTTTTCTTTCTTTCTTTTTAAC	TGGATCCAGTAAGTATACTTCTGTTGTGATCTAATTGGAGTTGTCTATAAAACTTGTAGGTACCTAGAACGAAATGTTACTCAGTTAAGTAGAACATTTTGCATTATAGCTAATTTGTGTGTGTGTGTGAGGAAGACTGGCCCTGAGCTAACATGTGTTGCTAATCTTCTTTTTGCTTGAGGAAGATTGTCCCTGAGCTAACATCTGTGCCAATCTTCCTCTATTTTATATGTGGGACACCGCCACAGTACGGCT	CATGGATGACACTTTGTTTTATATGCCTGAAAAATATTTGTAGGCAAGAGGAGGAACGGCGTAGACGAGAGGAAGAGATGATGATTCGCCAACGTGAGATGGAAGAACAAATGAGACGCCAACGAGAAGAAAGTTACAGCAGGATGGGCTACATGGATCCAGTAAGTTTTTATCCATTGTAAGTGTACACTCACTCAGGCGTGGCTGTTTTGTTTTGTGTGTATAAACTCCTATCAGATCTTGCTGGACCAAATG	NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN	CTAGGCAAGAGGAGGAACGACGTAGAAGAGAGGAAGAGATGATGATTCGTCAACGTGAGATGGAAGAACAAATGAGGCGCCAAAGAGAGGAAAGTTACAGCCGAATGGGCTACATGGATCCAGTAAGTCAGCCTTTACTGCCTTCCAATTGGAGTTGTCTATAGAACTTGCAGGTACCTAGAAGGAATTACAGGAAATTTTAATATCAAATTACAGTTATTTTCTGCTTTTTTTCTAACAAAGTATATTATGTTT	NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN[SEQ]GAGATGGAAGAACAAATGAGACGCCAAAGAGAGGAAAGTTACAGCAGGATGGGCTACATG...	TCAGCCTTTACTGCCTTCCAATTGGAGTTGTCTATAGAACTTGCAGGTACCTAGAAGGAATTACAGGAAATTTTAATATCAAATTACAGTTATTTTCTGCTTTTTTTCTAACAAAGTATATTATGTTT	CCAGCCTTTACTGCCTTCCAATTGGAGTTGTCTATAGAACTTGCAGGTACCTAGAAGGAATTACAGGAAATTTTAATATCAAATTACAGTTATTTTCTGCTTTTTTTCTAACAAAGTATATTATGTTT	true	true	true	1	35,187,839	35,188,094	-	zoonomia-rag-v1	sge\|1:35187967:A>G\|-
1	35,187,967	A	T	true	splicing	SFPQ	sge	urn:mavedb:00001265-a-1	-0.215358	null	null	null	null	T	null	null	null	null	null	null	null	null	null	splicing_variant	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	splice_donor_region_variant	splice_donor_region_variant	ENSG00000116560	5	ENSG00000116560	5	5	ENSG00000116560	splice_donor_region_variant	ENSG00000116560	5,177	ENSG00000116560	74	74	ENSG00000116560	splicing	urn:mavedb:00001265-a-1#84	NC_000001.11:g.35187967A>T	NA	NA	-0.215358	chr1	35,187,967	A	SFPQ_X7	SFPQ_X7B	0.068086	-0.08191	-0.348807	---	p-	p-	functionally_abnormal	1	0	PASS	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	null	Cell proliferation assay	Chemical-based transfection	Nuclease	SpCas9	Single-dimensional data	Loss of function	Immortalized human cells	Direct sequencing	Single-segment (short read)	Endogenous locus library method	null	abnormal	abnormal	Investigator-provided functional classes	null	1	-0.215358	1:35187967:A>T	sge_00000007	35,187,966	35,187,839	35,188,094	AAACATAATATACTTTGTTAGAAAAAAAGCAGAAAATAACTGTAATTTGATATTAAAATTTCCTGTAATTCCTTCTAGGTACCTGCAAGTTCTATAGACAACTCCAATTGGAAGGCAGTAAAGGCTGACTTACTGGATCCATGTAGCCCATTCGGCTGTAACTTTCCTCTCTTTGGCGCCTCATTTGTTCTTCCATCTCACGTTGACGAATCATCATCTCTTCCTCTCTTCTACGTCGTTCCTCCTCTTGCCTAG	zoonomia-rag-direct-hal-v1	null	null	null	null	false	false	GL010061.1	14,197,947	14,198,202	+	true	true	TolMat_scaffold_339430	3,250	3,505	+	true	true	CM000179.6	111,552,698	111,552,953	-	true	true	CM000378.2	22,062,885	22,063,140	-	true	true	chr4	127,026,725	127,026,980	-	true	true	null	null	null	null	false	false	+	NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN	CTGTTTGCCTCCCGTGACCCTATCACAGAGTAGAACTGCCCCACAGGGTTTCCTAGGCCGTAATCTTTACAAGCGGATTCTGCTGGCGGATTCGAACCACCAACCTTTCAATTAGCAATTGAGTGCTTAACCAATGTACCACCAGGGCTCCTTACAAGTTCTGTAGGCAGCTCAAATTTGACAACTTACTGGATCCATGTAGCCCATCCTGCTGTAACTTTCCTCTCTTTGGCGTCTCATTTGTTCTTCCATCTC	AACTATTATAAAGAAAATAATGGCTATAATGTGAGACATTACATTTTTCATTTAACTGGGTAAAACTTCATTCTAGGTACCCACAAGTTCTGTAGAAAATTCCAACGACTGCAAAAAAGTGAACTTACTGGATCCATGTAGCCCATCCGGCTGTAGCTTTCCTCTCTTTGGCGTCTCATTTGTTCTTCCATCTCACGTTGACGAATCATCATCTCTTCCTCCCTTCTACGTCGTTCTTCCTCTTGCCTGGAAATA	GTTAAAAAGAAAGAAAGAAAAAGGTAGAATAGCTACCATGTGAAAAGTGACATTTAACTGAATAAACTGCACCCTAGGTATCCACAAATTCTGTAGAAAACTCCGATTACATTGCAAAAGTTTACTTACTGGATCCATATAGCCCATCCGACTATAACTTTCCTCTCTTTGGCGTCTCATCTGTTCTTCCATCTCACGTTGACGAATCATCATCTCTTCTTCCCTCCTACGTCGTTCTTCCTCTTGCCTGGAAAT	AGCCGTACTGTGGCGGTGTCCCACATATAAAATAGAGGAAGATTGGCACAGATGTTAGCTCAGGGACAATCTTCCTCAAGCAAAAAGAAGATTAGCAACACATGTTAGCTCAGGGCCAGTCTTCCTCACACACACACACAAATTAGCTATAATGCAAAATGTTCTACTTAACTGAGTAACATTTCGTTCTAGGTACCTACAAGTTTTATAGACAACTCCAATTAGATCACAACAGAAGTATACTTACTGGATCCA	CATTTGGTCCAGCAAGATCTGATAGGAGTTTATACACACAAAACAAAACAGCCACGCCTGAGTGAGTGTACACTTACAATGGATAAAAACTTACTGGATCCATGTAGCCCATCCTGCTGTAACTTTCTTCTCGTTGGCGTCTCATTTGTTCTTCCATCTCACGTTGGCGAATCATCATCTCTTCCTCTCGTCTACGCCGTTCCTCCTCTTGCCTACAAATATTTTTCAGGCATATAAAACAAAGTGTCATCCATG	NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN	AAACATAATATACTTTGTTAGAAAAAAAGCAGAAAATAACTGTAATTTGATATTAAAATTTCCTGTAATTCCTTCTAGGTACCTGCAAGTTCTATAGACAACTCCAATTGGAAGGCAGTAAAGGCTGACTTACTGGATCCATGTAGCCCATTCGGCTGTAACTTTCCTCTCTTTGGCGCCTCATTTGTTCTTCCATCTCACGTTGACGAATCATCATCTCTTCCTCTCTTCTACGTCGTTCCTCCTCTTGCCTAG	NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN[SEQ]CTGTTTGCCTCCCGTGACCCTATCACAGAGTAGAACTGCCCCACAGGGTTTCCTAGGCCG...	ACTTACTGGATCCATGTAGCCCATTCGGCTGTAACTTTCCTCTCTTTGGCGCCTCATTTGTTCTTCCATCTCACGTTGACGAATCATCATCTCTTCCTCTCTTCTACGTCGTTCCTCCTCTTGCCTAG	TCTTACTGGATCCATGTAGCCCATTCGGCTGTAACTTTCCTCTCTTTGGCGCCTCATTTGTTCTTCCATCTCACGTTGACGAATCATCATCTCTTCCTCTCTTCTACGTCGTTCCTCCTCTTGCCTAG	true	true	true	1	35,187,839	35,188,094	+	zoonomia-rag-v1	sge\|1:35187967:A>T\|+

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marin-dna/evals_sge_rag_harness_255_v1

Retrieval-conditioned, eval-harness-ready SGE SNV benchmark for the MarinDNA SGE leaderboard. Each row contains seven fully materialized Zoonomia ortholog slots, the shared 127-base human prefix, and separate reference/alternate completions. Every source variant has forward and reverse-complement rows.

Produced by the commit-pinned issue #402 RAG pipeline.

Split	Source variants	Materialized rows
train	23,853	47,706
test	14,888	29,776

Frozen document contract

Species order/version: zoonomia-rag-v1; human is slot 7.
Projection/version: zoonomia-rag-direct-hal-v1.
context is 1,919 tokens before BOS: seven 255-base non-human slots, seven atomic [SEQ] boundaries, and the shared 127-base human prefix.
Each completion is 128 bases; BOS + context + completion is exactly 2,048 tokens.
The centered SNV is absolute token index 1920.
Missing projections are exactly 255 N bases.

Every exact unique human window was projected directly with halLiftover --noDupes against the pinned Zoonomia 447-mammalian 2022 v1 HAL, then filtered and strand-normalized with the same issue #402 quality contract. Model scoring needs only this pinned dataset and a checkpoint.

Provenance

Source: marin-dna/evals_sge at 225d3d1ea32a4af547891b13c33b5e92a5aae849 (GRCh38, source pos is 1-based).
Score protocol: minus_llr.
Alignment source leaf: Homo_sapiens.
Derived genomic coordinates: 0-based, half-open.

manifest.json records exact revisions, counts, projection settings, and per-species availability. All original source columns are retained.

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