source	chrom	pos	ref	alt	variant_type	ems_class	effect	gene_id	standard_gene_id	ncbi_geneid	transcripts	carrier_n	carriers	variant_id	portal_version	data_version	query_total
typical_cds_rare	Chr8	52013295	G	A	SNV	EMS_canonical_SNV	CDS_variant	LOC130998983	SmilChr08G004254	130998983	rna-XM_057924430.1	4	B104,B115,B139,C67	602069	continuous_repair_20261005_032558	nuclear_20260923	64
lof_cds	Chr8	52013312	C	T	SNV	EMS_canonical_SNV	stop_gained	LOC130998983	SmilChr08G004254	130998983	rna-XM_057924430.1	2	B121,C17	764685	continuous_repair_20261005_032558	nuclear_20260923	64
typical_cds_rare	Chr8	52013312	C	T	SNV	EMS_canonical_SNV	CDS_variant	LOC130998983	SmilChr08G004254	130998983	rna-XM_057924430.1	2	B121,C17	602070	continuous_repair_20261005_032558	nuclear_20260923	64
typical_cds_rare	Chr8	52013468	C	T	SNV	EMS_canonical_SNV	CDS_variant	LOC130998983	SmilChr08G004254	130998983	rna-XM_057924430.1	2	B75,C19	602071	continuous_repair_20261005_032558	nuclear_20260923	64
typical_cds_rare	Chr8	52013475	C	T	SNV	EMS_canonical_SNV	CDS_variant	LOC130998983	SmilChr08G004254	130998983	rna-XM_057924430.1	2	B64,C17	602072	continuous_repair_20261005_032558	nuclear_20260923	64
lof_cds	Chr8	52013484	A	ACC	INDEL	2bp_insertion	frameshift_variant	LOC130998983	SmilChr08G004254	130998983	rna-XM_057924430.1	4	B28,B33,B87,C47	764686	continuous_repair_20261005_032558	nuclear_20260923	64
typical_cds_rare	Chr8	52013484	A	ACC	INDEL	2bp_insertion	CDS_variant	LOC130998983	SmilChr08G004254	130998983	rna-XM_057924430.1	4	B28,B33,B87,C47	602073	continuous_repair_20261005_032558	nuclear_20260923	64
typical_cds_rare	Chr8	52013496	C	T	SNV	EMS_canonical_SNV	CDS_variant	LOC130998983	SmilChr08G004254	130998983	rna-XM_057924430.1	2	B52,B60	602074	continuous_repair_20261005_032558	nuclear_20260923	64
typical_cds_rare	Chr8	52013500	G	A	SNV	EMS_canonical_SNV	CDS_variant	LOC130998983	SmilChr08G004254	130998983	rna-XM_057924430.1	1	C26	602075	continuous_repair_20261005_032558	nuclear_20260923	64
typical_cds_rare	Chr8	52013514	C	T	SNV	EMS_canonical_SNV	CDS_variant	LOC130998983	SmilChr08G004254	130998983	rna-XM_057924430.1	1	D11	602076	continuous_repair_20261005_032558	nuclear_20260923	64
typical_cds_rare	Chr8	52013611	G	A	SNV	EMS_canonical_SNV	CDS_variant	LOC130998983	SmilChr08G004254	130998983	rna-XM_057924430.1	3	A23,B124,B34	602077	continuous_repair_20261005_032558	nuclear_20260923	64
typical_cds_rare	Chr8	52013615	G	A	SNV	EMS_canonical_SNV	CDS_variant	LOC130998983	SmilChr08G004254	130998983	rna-XM_057924430.1	3	B102,B56,B71	602078	continuous_repair_20261005_032558	nuclear_20260923	64
typical_cds_rare	Chr8	52013618	C	T	SNV	EMS_canonical_SNV	CDS_variant	LOC130998983	SmilChr08G004254	130998983	rna-XM_057924430.1	5	A16,B107,B132,C17,C5	602079	continuous_repair_20261005_032558	nuclear_20260923	64
lof_cds	Chr8	52013633	G	A	SNV	EMS_canonical_SNV	stop_gained	LOC130998983	SmilChr08G004254	130998983	rna-XM_057924430.1	46	A13,A18,A25,A3,B10,B103,B109,B112,B118,B133,B134,B19,B24,B30,B32,B36,B37,B38,B42,B50,B54,B57,B58,B74,B77,B79,B84,B86,B87,B9,C15,C20,C22,C30,C43,C5,C57,C6,C60,C68,C7,C77,C80,C86,D7,D8	764687	continuous_repair_20261005_032558	nuclear_20260923	64
lof_cds	Chr8	52013644	C	T	SNV	EMS_canonical_SNV	stop_gained	LOC130998983	SmilChr08G004254	130998983	rna-XM_057924430.1	1	B87	764688	continuous_repair_20261005_032558	nuclear_20260923	64
typical_cds_rare	Chr8	52013644	C	T	SNV	EMS_canonical_SNV	CDS_variant	LOC130998983	SmilChr08G004254	130998983	rna-XM_057924430.1	1	B87	602080	continuous_repair_20261005_032558	nuclear_20260923	64
typical_cds_rare	Chr8	52013660	G	A	SNV	EMS_canonical_SNV	CDS_variant	LOC130998983	SmilChr08G004254	130998983	rna-XM_057924430.1	3	B104,B16,C39	602081	continuous_repair_20261005_032558	nuclear_20260923	64
lof_cds	Chr8	52013691	CT	C	INDEL	1bp_deletion	frameshift_variant	LOC130998983	SmilChr08G004254	130998983	rna-XM_057924430.1	10	A10,B111,B112,B131,B25,B88,B94,C28,C61,D5	764689	continuous_repair_20261005_032558	nuclear_20260923	64
typical_cds_rare	Chr8	52013717	C	T	SNV	EMS_canonical_SNV	CDS_variant	LOC130998983	SmilChr08G004254	130998983	rna-XM_057924430.1	3	B117,B15,B37	602082	continuous_repair_20261005_032558	nuclear_20260923	64
lof_cds	Chr8	52013729	CA	C	INDEL	1bp_deletion	frameshift_variant	LOC130998983	SmilChr08G004254	130998983	rna-XM_057924430.1	12	A7,B100,B137,B16,B48,B57,B66,C10,C36,C74,C79,D6	764690	continuous_repair_20261005_032558	nuclear_20260923	64
typical_cds_rare	Chr8	52013741	C	T	SNV	EMS_canonical_SNV	CDS_variant	LOC130998983	SmilChr08G004254	130998983	rna-XM_057924430.1	1	B38	602083	continuous_repair_20261005_032558	nuclear_20260923	64
lof_cds	Chr8	52013742	A	AG	INDEL	1bp_insertion	frameshift_variant	LOC130998983	SmilChr08G004254	130998983	rna-XM_057924430.1	11	A10,B111,B112,B13,B131,B25,B88,B94,C61,C62,D5	764691	continuous_repair_20261005_032558	nuclear_20260923	64
lof_cds	Chr8	52013744	AC	A	INDEL	1bp_deletion	frameshift_variant	LOC130998983	SmilChr08G004254	130998983	rna-XM_057924430.1	10	A10,B111,B13,B131,B25,B88,B94,C61,C62,D5	764692	continuous_repair_20261005_032558	nuclear_20260923	64
lof_cds	Chr8	52013747	G	A	SNV	EMS_canonical_SNV	stop_gained	LOC130998983	SmilChr08G004254	130998983	rna-XM_057924430.1	20	B120,B19,B31,B5,B55,B57,B58,B60,B96,C29,C31,C34,C4,C40,C41,C45,C52,C60,C70,C83	764693	continuous_repair_20261005_032558	nuclear_20260923	64
lof_cds	Chr8	52013750	G	A	SNV	EMS_canonical_SNV	stop_gained	LOC130998983	SmilChr08G004254	130998983	rna-XM_057924430.1	13	A19,A24,B102,B105,B20,B28,B62,B82,B86,B92,C60,C62,C80	764694	continuous_repair_20261005_032558	nuclear_20260923	64
typical_cds_rare	Chr8	52013754	G	A	SNV	EMS_canonical_SNV	CDS_variant	LOC130998983	SmilChr08G004254	130998983	rna-XM_057924430.1	3	B19,B31,C34	602084	continuous_repair_20261005_032558	nuclear_20260923	64
lof_cds	Chr8	52013760	TC	T	INDEL	1bp_deletion	frameshift_variant	LOC130998983	SmilChr08G004254	130998983	rna-XM_057924430.1	13	A10,B111,B112,B13,B131,B25,B88,C28,C39,C61,C62,C79,D5	764695	continuous_repair_20261005_032558	nuclear_20260923	64
lof_cds	Chr8	52013777	GCA	G	INDEL	2bp_deletion	frameshift_variant	LOC130998983	SmilChr08G004254	130998983	rna-XM_057924430.1	12	A10,B111,B112,B131,B25,B88,C28,C39,C61,C62,C79,D5	764696	continuous_repair_20261005_032558	nuclear_20260923	64
typical_cds_rare	Chr8	52013788	G	A	SNV	EMS_canonical_SNV	CDS_variant	LOC130998983	SmilChr08G004254	130998983	rna-XM_057924430.1	5	A25,B37,B77,C38,D2	602085	continuous_repair_20261005_032558	nuclear_20260923	64
typical_cds_rare	Chr8	52013797	G	A	SNV	EMS_canonical_SNV	CDS_variant	LOC130998983	SmilChr08G004254	130998983	rna-XM_057924430.1	2	B31,B69	602086	continuous_repair_20261005_032558	nuclear_20260923	64
typical_cds_rare	Chr8	52013798	C	T	SNV	EMS_canonical_SNV	CDS_variant	LOC130998983	SmilChr08G004254	130998983	rna-XM_057924430.1	2	B11,C80	602087	continuous_repair_20261005_032558	nuclear_20260923	64
typical_cds_rare	Chr8	52013801	C	T	SNV	EMS_canonical_SNV	CDS_variant	LOC130998983	SmilChr08G004254	130998983	rna-XM_057924430.1	3	B119,C51,C80	602088	continuous_repair_20261005_032558	nuclear_20260923	64
typical_cds_rare	Chr8	52013811	C	T	SNV	EMS_canonical_SNV	CDS_variant	LOC130998983	SmilChr08G004254	130998983	rna-XM_057924430.1	2	C21,C28	602089	continuous_repair_20261005_032558	nuclear_20260923	64
lof_cds	Chr8	52013816	G	A	SNV	EMS_canonical_SNV	stop_gained	LOC130998983	SmilChr08G004254	130998983	rna-XM_057924430.1	8	B45,B74,C14,C17,C41,C55,C86,D11	764697	continuous_repair_20261005_032558	nuclear_20260923	64
typical_cds_rare	Chr8	52013818	C	T	SNV	EMS_canonical_SNV	CDS_variant	LOC130998983	SmilChr08G004254	130998983	rna-XM_057924430.1	3	B45,B88,C19	602090	continuous_repair_20261005_032558	nuclear_20260923	64
lof_cds	Chr8	52013819	G	A	SNV	EMS_canonical_SNV	stop_gained	LOC130998983	SmilChr08G004254	130998983	rna-XM_057924430.1	73	A11,A20,A21,A5,B10,B105,B106,B108,B111,B112,B113,B12,B128,B129,B13,B131,B134,B17,B20,B24,B35,B41,B42,B47,B49,B51,B54,B57,B59,B62,B64,B66,B73,B78,B79,B82,B88,B9,B90,B92,B97,B98,C1,C10,C11,C14,C15,C20,C23,C28,C34,C41,C47,C48,C50,C57,C58,C59,C61,C64,C66,C69,C71,C72,C77,C79,C80,C82,C85,C87,D10,D3,D8	764698	continuous_repair_20261005_032558	nuclear_20260923	64
typical_cds_rare	Chr8	52013824	C	T	SNV	EMS_canonical_SNV	CDS_variant	LOC130998983	SmilChr08G004254	130998983	rna-XM_057924430.1	5	B1,B120,B19,C80,C84	602091	continuous_repair_20261005_032558	nuclear_20260923	64
typical_cds_rare	Chr8	52013854	C	T	SNV	EMS_canonical_SNV	CDS_variant	LOC130998983	SmilChr08G004254	130998983	rna-XM_057924430.1	4	B2,B7,C48,C78	602092	continuous_repair_20261005_032558	nuclear_20260923	64
typical_cds_rare	Chr8	52013860	G	A	SNV	EMS_canonical_SNV	CDS_variant	LOC130998983	SmilChr08G004254	130998983	rna-XM_057924430.1	2	C39,C45	602093	continuous_repair_20261005_032558	nuclear_20260923	64
typical_cds_rare	Chr8	52013873	C	T	SNV	EMS_canonical_SNV	CDS_variant	LOC130998983	SmilChr08G004254	130998983	rna-XM_057924430.1	2	B96,B97	602094	continuous_repair_20261005_032558	nuclear_20260923	64
typical_cds_rare	Chr8	52013875	G	A	SNV	EMS_canonical_SNV	CDS_variant	LOC130998983	SmilChr08G004254	130998983	rna-XM_057924430.1	5	B45,C28,C77,C86,D11	602095	continuous_repair_20261005_032558	nuclear_20260923	64
typical_cds_rare	Chr8	52013879	C	T	SNV	EMS_canonical_SNV	CDS_variant	LOC130998983	SmilChr08G004254	130998983	rna-XM_057924430.1	1	B36	602096	continuous_repair_20261005_032558	nuclear_20260923	64
typical_cds_rare	Chr8	52013888	C	T	SNV	EMS_canonical_SNV	CDS_variant	LOC130998983	SmilChr08G004254	130998983	rna-XM_057924430.1	1	B19	602097	continuous_repair_20261005_032558	nuclear_20260923	64
typical_cds_rare	Chr8	52013984	C	T	SNV	EMS_canonical_SNV	CDS_variant	LOC130998983	SmilChr08G004254	130998983	rna-XM_057924430.1	1	D11	602098	continuous_repair_20261005_032558	nuclear_20260923	64
typical_cds_rare	Chr8	52014004	C	T	SNV	EMS_canonical_SNV	CDS_variant	LOC130998983	SmilChr08G004254	130998983	rna-XM_057924430.1	2	C72,C80	602099	continuous_repair_20261005_032558	nuclear_20260923	64
typical_cds_rare	Chr8	52014048	C	T	SNV	EMS_canonical_SNV	CDS_variant	LOC130998983	SmilChr08G004254	130998983	rna-XM_057924430.1	4	A3,C16,C26,C62	602100	continuous_repair_20261005_032558	nuclear_20260923	64
lof_cds	Chr8	52014085	G	A	SNV	EMS_canonical_SNV	stop_gained	LOC130998983	SmilChr08G004254	130998983	rna-XM_057924430.1	17	A22,A25,A4,B109,B111,B115,B117,B129,B42,B70,B97,B98,C29,C50,D3,D6,D7	764699	continuous_repair_20261005_032558	nuclear_20260923	64
typical_cds_rare	Chr8	52014102	C	T	SNV	EMS_canonical_SNV	CDS_variant	LOC130998983	SmilChr08G004254	130998983	rna-XM_057924430.1	2	B104,C87	602101	continuous_repair_20261005_032558	nuclear_20260923	64
typical_cds_rare	Chr8	52014120	C	T	SNV	EMS_canonical_SNV	CDS_variant	LOC130998983	SmilChr08G004254	130998983	rna-XM_057924430.1	2	B15,C5	602102	continuous_repair_20261005_032558	nuclear_20260923	64
typical_cds_rare	Chr8	52014129	C	T	SNV	EMS_canonical_SNV	CDS_variant	LOC130998983	SmilChr08G004254	130998983	rna-XM_057924430.1	2	B17,B41	602103	continuous_repair_20261005_032558	nuclear_20260923	64
typical_cds_rare	Chr8	52014130	C	T	SNV	EMS_canonical_SNV	CDS_variant	LOC130998983	SmilChr08G004254	130998983	rna-XM_057924430.1	2	B1,C74	602104	continuous_repair_20261005_032558	nuclear_20260923	64
typical_cds_rare	Chr8	52014131	G	A	SNV	EMS_canonical_SNV	CDS_variant	LOC130998983	SmilChr08G004254	130998983	rna-XM_057924430.1	1	C82	602105	continuous_repair_20261005_032558	nuclear_20260923	64
typical_cds_rare	Chr8	52014138	G	A	SNV	EMS_canonical_SNV	CDS_variant	LOC130998983	SmilChr08G004254	130998983	rna-XM_057924430.1	1	C85	602106	continuous_repair_20261005_032558	nuclear_20260923	64
typical_cds_rare	Chr8	52014163	G	A	SNV	EMS_canonical_SNV	CDS_variant	LOC130998983	SmilChr08G004254	130998983	rna-XM_057924430.1	2	B102,B39	602107	continuous_repair_20261005_032558	nuclear_20260923	64
lof_cds	Chr8	52014169	G	A	SNV	EMS_canonical_SNV	stop_gained	LOC130998983	SmilChr08G004254	130998983	rna-XM_057924430.1	5	B1,B102,B51,B89,C74	764700	continuous_repair_20261005_032558	nuclear_20260923	64
typical_cds_rare	Chr8	52014169	G	A	SNV	EMS_canonical_SNV	CDS_variant	LOC130998983	SmilChr08G004254	130998983	rna-XM_057924430.1	5	B1,B102,B51,B89,C74	602108	continuous_repair_20261005_032558	nuclear_20260923	64
typical_cds_rare	Chr8	52014172	C	T	SNV	EMS_canonical_SNV	CDS_variant	LOC130998983	SmilChr08G004254	130998983	rna-XM_057924430.1	2	B125,B70	602109	continuous_repair_20261005_032558	nuclear_20260923	64
lof_cds	Chr8	52014174	TC	T	INDEL	1bp_deletion	frameshift_variant	LOC130998983	SmilChr08G004254	130998983	rna-XM_057924430.1	11	A16,B113,B120,B122,B93,C10,C17,C21,C22,C4,C87	764701	continuous_repair_20261005_032558	nuclear_20260923	64
typical_cds_rare	Chr8	52014178	C	T	SNV	EMS_canonical_SNV	CDS_variant	LOC130998983	SmilChr08G004254	130998983	rna-XM_057924430.1	5	A3,B57,B58,B98,C60	602110	continuous_repair_20261005_032558	nuclear_20260923	64
typical_cds_rare	Chr8	52014196	C	T	SNV	EMS_canonical_SNV	CDS_variant	LOC130998983	SmilChr08G004254	130998983	rna-XM_057924430.1	4	B70,C24,C47,C59	602111	continuous_repair_20261005_032558	nuclear_20260923	64
lof_cds	Chr8	52014217	G	A	SNV	EMS_canonical_SNV	stop_gained	LOC130998983	SmilChr08G004254	130998983	rna-XM_057924430.1	5	B1,B70,C24,C47,C59	764702	continuous_repair_20261005_032558	nuclear_20260923	64
typical_cds_rare	Chr8	52014217	G	A	SNV	EMS_canonical_SNV	CDS_variant	LOC130998983	SmilChr08G004254	130998983	rna-XM_057924430.1	5	B1,B70,C24,C47,C59	602112	continuous_repair_20261005_032558	nuclear_20260923	64
typical_cds_rare	Chr8	52014219	G	A	SNV	EMS_canonical_SNV	CDS_variant	LOC130998983	SmilChr08G004254	130998983	rna-XM_057924430.1	2	A23,B52	602113	continuous_repair_20261005_032558	nuclear_20260923	64
typical_cds_rare	Chr8	52014224	G	A	SNV	EMS_canonical_SNV	CDS_variant	LOC130998983	SmilChr08G004254	130998983	rna-XM_057924430.1	1	B8	602114	continuous_repair_20261005_032558	nuclear_20260923	64