source	chrom	pos	ref	alt	variant_type	ems_class	effect	gene_id	standard_gene_id	ncbi_geneid	transcripts	carrier_n	carriers
typical_cds_rare	Chr1	49226958	G	A	SNV	EMS_canonical_SNV	CDS_variant	LOC130989159	SmilChr01G003021	130989159	rna-XM_057913101.1,rna-XM_057913107.1	3	B103,C31,C60
typical_cds_rare	Chr1	49227849	G	A	SNV	EMS_canonical_SNV	CDS_variant	LOC130989159	SmilChr01G003021	130989159	rna-XM_057913101.1,rna-XM_057913107.1	3	B100,B80,B82
typical_cds_rare	Chr1	49228143	C	T	SNV	EMS_canonical_SNV	CDS_variant	LOC130989159	SmilChr01G003021	130989159	rna-XM_057913101.1,rna-XM_057913107.1	1	B40
typical_cds_rare	Chr1	49228265	G	A	SNV	EMS_canonical_SNV	CDS_variant	LOC130989159	SmilChr01G003021	130989159	rna-XM_057913101.1,rna-XM_057913107.1	1	C5
typical_cds_rare	Chr1	49228326	G	A	SNV	EMS_canonical_SNV	CDS_variant	LOC130989159	SmilChr01G003021	130989159	rna-XM_057913101.1,rna-XM_057913107.1	1	C18
typical_cds_rare	Chr1	49228408	G	A	SNV	EMS_canonical_SNV	CDS_variant	LOC130989159	SmilChr01G003021	130989159	rna-XM_057913101.1,rna-XM_057913107.1	2	B35,B37
typical_cds_rare	Chr1	49228419	C	T	SNV	EMS_canonical_SNV	CDS_variant	LOC130989159	SmilChr01G003021	130989159	rna-XM_057913101.1,rna-XM_057913107.1	1	B49
typical_cds_rare	Chr1	49228560	C	T	SNV	EMS_canonical_SNV	CDS_variant	LOC130989159	SmilChr01G003021	130989159	rna-XM_057913101.1,rna-XM_057913107.1	1	B122
typical_cds_rare	Chr1	49228668	C	T	SNV	EMS_canonical_SNV	CDS_variant	LOC130989159	SmilChr01G003021	130989159	rna-XM_057913101.1,rna-XM_057913107.1	1	B123
typical_cds_rare	Chr1	49228806	C	T	SNV	EMS_canonical_SNV	CDS_variant	LOC130989159	SmilChr01G003021	130989159	rna-XM_057913101.1,rna-XM_057913107.1	1	B40
lof_cds	Chr1	49230394	G	A	SNV	EMS_canonical_SNV	stop_gained	LOC130989159	SmilChr01G003021	130989159	rna-XM_057913101.1,rna-XM_057913107.1	5	A15,B7,C21,C72,C79
typical_cds_rare	Chr1	49230394	G	A	SNV	EMS_canonical_SNV	CDS_variant	LOC130989159	SmilChr01G003021	130989159	rna-XM_057913101.1,rna-XM_057913107.1	5	A15,B7,C21,C72,C79
typical_cds_rare	Chr1	49230470	C	T	SNV	EMS_canonical_SNV	CDS_variant	LOC130989159	SmilChr01G003021	130989159	rna-XM_057913101.1,rna-XM_057913107.1	4	B117,B83,C59,C65
typical_cds_rare	Chr1	49230657	C	T	SNV	EMS_canonical_SNV	CDS_variant	LOC130989159	SmilChr01G003021	130989159	rna-XM_057913101.1,rna-XM_057913107.1	1	B103
typical_cds_rare	Chr1	49232460	C	T	SNV	EMS_canonical_SNV	CDS_variant	LOC130989159	SmilChr01G003021	130989159	rna-XM_057913101.1,rna-XM_057913107.1	1	B97
typical_cds_rare	Chr1	49232580	G	A	SNV	EMS_canonical_SNV	CDS_variant	LOC130989159	SmilChr01G003021	130989159	rna-XM_057913101.1,rna-XM_057913107.1	1	B13
typical_cds_rare	Chr1	49232604	G	A	SNV	EMS_canonical_SNV	CDS_variant	LOC130989159	SmilChr01G003021	130989159	rna-XM_057913101.1,rna-XM_057913107.1	1	B104
typical_cds_rare	Chr1	49232635	G	A	SNV	EMS_canonical_SNV	CDS_variant	LOC130989159	SmilChr01G003021	130989159	rna-XM_057913101.1,rna-XM_057913107.1	1	C59
typical_cds_rare	Chr1	49232672	C	T	SNV	EMS_canonical_SNV	CDS_variant	LOC130989159	SmilChr01G003021	130989159	rna-XM_057913101.1,rna-XM_057913107.1	1	C43
typical_cds_rare	Chr1	49232767	G	A	SNV	EMS_canonical_SNV	CDS_variant	LOC130989159	SmilChr01G003021	130989159	rna-XM_057913101.1,rna-XM_057913107.1	1	B139
typical_cds_rare	Chr1	49232799	G	A	SNV	EMS_canonical_SNV	CDS_variant	LOC130989159	SmilChr01G003021	130989159	rna-XM_057913101.1,rna-XM_057913107.1	1	B59
typical_cds_rare	Chr1	49233228	G	A	SNV	EMS_canonical_SNV	CDS_variant	LOC130989159	SmilChr01G003021	130989159	rna-XM_057913101.1	1	B129