Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
FMN2_chr1_240086883_240480187	240465330	CTGTGTGT others(25): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03041.hp2 HG02809.hp2 HG03041.hp2	a0002 a0003 a0002 a0003	a0002c0127 a0003c0010 a0002c0127 a0003c0010	a0002c0127t0001 a0003c0010t0001 a0002c0127t0001 a0003c0010t0001	a0002c0127t0001g0137 a0003c0010t0001g0074 a0002c0127t0001g0137 a0003c0010t0001g0074	2	174	0.0115	-32	c.506 others(51): Show c.5061-7016_5061-6985delGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGT	FMN2	ENSG00000155816.21	transcript	ENST00000319653.14	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
FMNL2_chr2_152330174_152654826	152412444	TTTTATAT others(25): Show TTTTATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0152 a0001c0006t0001g0152	1	200	0.0050	-32	c.117 others(51): Show c.117+76726_117+76757delTTATATATATATATATATATATATAT ATATAT	FMNL2	ENSG00000157827.20	transcript	ENST00000288670.14	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
FMNL2_chr2_152330174_152654826	152412446	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp2 HG02109.hp2 others(5): Show HG01884.hp2 HG01891.hp2 HG02109.hp2 HG02258.hp1 HG02280.hp1 HG02647.hp2 HG03041.hp1 HG03209.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0010	a0001c0003 a0001c0006 a0001c0025 others(4): Show a0001c0003 a0001c0006 a0001c0025 a0002c0002 a0002c0004 a0004c0023 a0010c0044	a0001c0003t0001 a0001c0006t0013 a0001c0025t0012 others(4): Show a0001c0003t0001 a0001c0006t0013 a0001c0025t0012 a0002c0002t0006 a0002c0004t0001 a0004c0023t0002 a0010c0044t0001	a0001c0003t0001g0004 a0001c0006t0013g0091 a0001c0025t0012g0087 others(5): Show a0001c0003t0001g0004 a0001c0006t0013g0091 a0001c0025t0012g0087 a0002c0002t0006g0113 a0002c0004t0001g0111 a0002c0004t0001g0112 a0004c0023t0002g0084 a0010c0044t0001g0155	8	200	0.0400	-32	c.117 others(51): Show c.117+76751_117+76782delTATATATATATATATATATATATATA TATATA	FMNL2	ENSG00000157827.20	transcript	ENST00000288670.14	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
FN1_chr2_215355865_215441068	215401219	AAAGAAAG others(25): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGG	A A	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0062 a0001c0062	a0001c0062t0003 a0001c0062t0003	a0001c0062t0003g0136 a0001c0062t0003g0136	1	240	0.0042	-32	c.325 others(51): Show c.3254-1900_3254-1869delCCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTT	FN1	ENSG00000115414.21	transcript	ENST00000354785.11	protein_coding	20/45			chr2	TogoVar
FN3K_chr17_82730615_82756196	82743783	GCTGGGCT others(25): Show GCTGGGCTTCGACCCTCAGTCTGGCTTCAGACC	G G	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	402	0.0025	-32	c.468 others(49): Show c.468+2391_468+2422delCTGGGCTTCGACCCTCAGTCTGGCTTCA GACC	FN3K	ENSG00000167363.14	transcript	ENST00000300784.8	protein_coding	4/5			chr17	TogoVar
FNBP1L_chr1_93443118_93559661	93507083	ACACACAC others(25): Show ACACACACACACACACACACACACACTCTCTCT	A A	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	324	0.0031	-32	c.140 others(49): Show c.140+7502_140+7533delACACACACACACACACACACACACTCTC TCTC	FNBP1L	ENSG00000137942.18	transcript	ENST00000271234.13	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
FNBP1_chr9_129882187_130048189	129965771	GGGAAGGG others(25): Show GGGAAGGGAGGGAAGGAGGGAGGGAGGGGGGAA	G G	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0027 a0002c0003t0027	a0002c0003t0027g0140 a0002c0003t0027g0140	1	212	0.0047	-32	c.346 others(49): Show c.346-7250_346-7219delTTCCCCCCTCCCTCCCTCCTTCCCTCCC TTCC	FNBP1	ENSG00000187239.19	transcript	ENST00000446176.7	protein_coding	4/16			chr9	TogoVar
FOCAD_chr9_20679259_21000950	20699761	AAAAAAAA others(25): Show AAAAAAAAAAAAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0044 a0001c0044	a0001c0044t0001 a0001c0044t0001	a0001c0044t0001g0007 a0001c0044t0001g0007	1	320	0.0031	-32	c.-33 others(51): Show c.-33+15470_-33+15501delAAAAAAAAAAAATATATATATATATA TATATA	FOCAD	ENSG00000188352.13	transcript	ENST00000338382.11	protein_coding	1/43		INFO_REALIGN_3_PRIME	chr9	TogoVar
FOCAD_chr9_20679259_21000950	20699763	AAAAAAAA others(25): Show AAAAAAAAAAAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG03225.hp2 NA20129.hp2 HG02896.hp1 HG03225.hp2 NA20129.hp2	a0002 a0005 a0002 a0005	a0002c0002 a0005c0006 a0002c0002 a0005c0006	a0002c0002t0001 a0005c0006t0001 a0002c0002t0001 a0005c0006t0001	a0002c0002t0001g0134 a0002c0002t0001g0135 a0005c0006t0001g0005 a0002c0002t0001g0134 a0002c0002t0001g0135 a0005c0006t0001g0005	3	320	0.0094	-32	c.-33 others(51): Show c.-33+15472_-33+15503delAAAAAAAAAATATATATATATATATA TATATA	FOCAD	ENSG00000188352.13	transcript	ENST00000338382.11	protein_coding	1/43		INFO_REALIGN_3_PRIME	chr9	TogoVar
FOCAD_chr9_20679259_21000950	20699765	AAAAAAAA others(25): Show AAAAAAAAAATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 NA18906.hp1 HG02451.hp1 NA18906.hp1	a0005 a0032 a0005 a0032	a0005c0012 a0032c0022 a0005c0012 a0032c0022	a0005c0012t0001 a0032c0022t0001 a0005c0012t0001 a0032c0022t0001	a0005c0012t0001g0004 a0032c0022t0001g0043 a0005c0012t0001g0004 a0032c0022t0001g0043	2	320	0.0063	-32	c.-33 others(51): Show c.-33+15474_-33+15505delAAAAAAAATATATATATATATATATA TATATA	FOCAD	ENSG00000188352.13	transcript	ENST00000338382.11	protein_coding	1/43		INFO_REALIGN_3_PRIME	chr9	TogoVar
FOLR1_chr11_72187140_72201299	72201266	ATACGTAT others(25): Show ATACGTATGTACACGTATACACGTATACGTATG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	412	0.0024	-32	c.50 others(43): Show c.5090_*5121delTACGTATGTACACGTATACACGTATACGTATG	FOLR1	ENSG00000110195.14	transcript	ENST00000393676.5	protein_coding		4968		chr11	TogoVar
FOXK1_chr7_4677295_4776442	4705974	GTATATAT others(25): Show GTATATATACGTATATATACGTATATATACGTA	G G	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0122 a0001c0008t0122	a0001c0008t0122g0272 a0001c0008t0122g0272	1	294	0.0034	-32	c.560 others(51): Show c.560+23113_560+23144delTACGTATATATACGTATATATACGTA TATATA	FOXK1	ENSG00000164916.11	transcript	ENST00000328914.5	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
FOXN3_chr14_89151177_89422233	89288651	GCTGTAAT others(25): Show GCTGTAATAGGCACTCTCTTTCTCTCTCTCTCT	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02922.hp1 HG02055.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0081 a0001c0001t0032 a0001c0001t0081	a0001c0001t0032g0006 a0001c0001t0081g0098 a0001c0001t0032g0006 a0001c0001t0081g0098	2	230	0.0087	-32	c.681 others(49): Show c.681-7669_681-7638delAGAGAGAGAGAGAAAGAGAGTGCCTATT ACAG	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	3/5			chr14	TogoVar
FOXN3_chr14_89151177_89422233	89288706	CTCTCTCT others(25): Show CTCTCTCTCTCTCTCTCTCTATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0077 a0001c0001t0077	a0001c0001t0077g0187 a0001c0001t0077g0187	1	230	0.0044	-32	c.681 others(49): Show c.681-7724_681-7693delTATATATATATATAGAGAGAGAGAGAGA GAGA	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	3/5			chr14	TogoVar
FOXN3_chr14_89151177_89422233	89288712	CTCTCTCT others(25): Show CTCTCTCTCTCTCTATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG03516.hp1 NA18946.hp1 HG01517.hp1 HG03516.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0020 a0001c0001t0001 a0001c0001t0005 a0001c0001t0020	a0001c0001t0001g0026 a0001c0001t0005g0099 a0001c0001t0020g0005 a0001c0001t0001g0026 a0001c0001t0005g0099 a0001c0001t0020g0005	3	230	0.0130	-32	c.681 others(49): Show c.681-7730_681-7699delTATATATATATATATATATAGAGAGAGA GAGA	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	3/5			chr14	TogoVar
FOXN4_chr12_109272978_109314284	109304221	GAGAAAGA others(25): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0228 a0001c0001t0005g0228	1	368	0.0027	-32	c.86+ others(47): Show c.86+3983_86+4014delTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CT	FOXN4	ENSG00000139445.18	transcript	ENST00000299162.10	protein_coding	2/9			chr12	TogoVar
FOXO1_chr13_40550667_40671641	40641712	CGGTGGCT others(25): Show CGGTGGCTCACACCTGTAATCCCAGCAACTTTG	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02257.hp2 HG02622.hp2 others(2): Show HG01891.hp2 HG02257.hp2 HG02622.hp2 NA18522.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0223 a0001c0001t0005g0224 a0001c0001t0005g0225 others(2): Show a0001c0001t0005g0223 a0001c0001t0005g0224 a0001c0001t0005g0225 a0001c0001t0005g0226 a0001c0001t0005g0227	5	394	0.0127	-32	c.630 others(51): Show c.630+23839_630+23870delCAAAGTTGCTGGGATTACAGGTGTGA GCCACC	FOXO1	ENSG00000150907.10	transcript	ENST00000379561.6	protein_coding	1/2			chr13	TogoVar
FOXO4_chrX_71090851_71108532	71094241	GAAGGAAG others(25): Show GAAGGAAGGAAGGAGAAAGAAAGAAAGAAAGAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	295	0.0034	-32	c.-22 others(43): Show c.-2287_-2256delAAGGAAGGAAGGAGAAAGAAAGAAAGAAAGAA	FOXO4	ENSG00000184481.17	transcript	ENST00000374259.8	protein_coding		1609		chrX	TogoVar
FOXP1_chr3_70949708_71588728	70976022	CTTAGTAT others(25): Show CTTAGTATATCTATGAGGGACAATCTCCTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01516.hp1 HG02258.hp1 others(3): Show HG01109.hp2 HG01516.hp1 HG02258.hp1 HG02809.hp2 HG02976.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0008 a0001c0001t0030 others(3): Show a0001c0001t0005 a0001c0001t0008 a0001c0001t0030 a0001c0001t0033 a0001c0001t0048 a0001c0001t0078	a0001c0001t0005g0022 a0001c0001t0008g0039 a0001c0001t0030g0002 others(3): Show a0001c0001t0005g0022 a0001c0001t0008g0039 a0001c0001t0030g0002 a0001c0001t0033g0057 a0001c0001t0048g0031 a0001c0001t0078g0028	6	96	0.0625	-32	c.153 others(49): Show c.1530+887_1530+918delAAAAAGGAGATTGTCCCTCATAGATATA CTAA	FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	17/20			chr3	TogoVar
FOXP1_chr3_70949708_71588728	71348518	TGTGCGTG others(25): Show TGTGCGTGTGTGTGTGTGTGTGTGTGTGTGTGC	T T	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0084 a0001c0001t0084	a0001c0001t0084g0061 a0001c0001t0084g0061	1	96	0.0104	-32	c.-73 others(51): Show c.-73+10600_-73+10631delGCACACACACACACACACACACACAC ACGCAC	FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	4/20			chr3	TogoVar
FOXP2_chr7_114409815_114698765	114645128	TAATATAT others(25): Show TAATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0117 a0001c0001t0006g0117	1	174	0.0058	-32	c.109 others(49): Show c.1094+340_1094+371delAATATATATATATATATATATATATATA TATA	FOXP2	ENSG00000128573.28	transcript	ENST00000350908.9	protein_coding	8/16			chr7	TogoVar
FOXP2_chr7_114409815_114698765	114645129	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0011 a0001c0001t0026g0011	1	174	0.0058	-32	c.109 others(49): Show c.1094+359_1094+390delATATATATATATATATATATATATATAT ATAT	FOXP2	ENSG00000128573.28	transcript	ENST00000350908.9	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
FOXS1_chr20_31839303_31850604	31846051	GAGAGACA others(25): Show GAGAGACACACAGACATACACGTACAGACACAC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	380	0.0026	-32	c.-54 others(41): Show c.-541_-510delGTGTGTCTGTACGTGTATGTCTGTGTGTCTCT	FOXS1	ENSG00000179772.8	transcript	ENST00000375978.5	protein_coding		448		chr20	TogoVar
FPR2_chr19_51756180_51775531	51772432	AGATACAA others(25): Show AGATACAAAAATAGTATCACATTAGTACATAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	472	0.0021	-32	c.27 others(43): Show c.2719_*2750delGATACAAAAATAGTATCACATTAGTACATAAG	FPR2	ENSG00000171049.9	transcript	ENST00000340023.7	protein_coding		1902		chr19	TogoVar
FRAS1_chr4_78052323_78549269	78289238	TTATCATT others(25): Show TTATCATTTTCTCTTTTCTCTTGAGTTTAGGGG	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02145.hp2 HG02630.hp2 others(3): Show HG01891.hp2 HG02145.hp2 HG02630.hp2 HG02818.hp2 HG03195.hp1 HG03471.hp1	a0051 a0052 a0091 others(3): Show a0051 a0052 a0091 a0092 a0093 a0094	a0051c0062 a0052c0063 a0091c0120 others(3): Show a0051c0062 a0052c0063 a0091c0120 a0092c0121 a0093c0119 a0094c0122	a0051c0062t0015 a0052c0063t0006 a0091c0120t0039 others(3): Show a0051c0062t0015 a0052c0063t0006 a0091c0120t0039 a0092c0121t0012 a0093c0119t0040 a0094c0122t0008	a0051c0062t0015g0045 a0052c0063t0006g0067 a0091c0120t0039g0096 others(3): Show a0051c0062t0015g0045 a0052c0063t0006g0067 a0091c0120t0039g0096 a0092c0121t0012g0154 a0093c0119t0040g0103 a0094c0122t0008g0081	6	178	0.0337	-32	c.153 others(51): Show c.1534+2703_1534+2734delCATTTTCTCTTTTCTCTTGAGTTTAG GGGTAT	FRAS1	ENSG00000138759.20	transcript	ENST00000512123.4	protein_coding	14/73		INFO_REALIGN_3_PRIME	chr4	TogoVar
FREM2_chr13_38682077_38892131	38813510	CTCTCTCT others(25): Show CTCTCTCTCCTCTCTCTCTCTCTCTCTCTCTCT	C C	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18977.hp2 NA18962.hp2 NA18977.hp2	a0003 a0004 a0003 a0004	a0003c0003 a0004c0004 a0003c0003 a0004c0004	a0003c0003t0002 a0004c0004t0004 a0003c0003t0002 a0004c0004t0004	a0003c0003t0002g0067 a0004c0004t0004g0008 a0003c0003t0002g0067 a0004c0004t0004g0008	2	262	0.0076	-32	c.601 others(53): Show c.6019+28703_6019+28734delTCTCTCTCCTCTCTCTCTCTCTCT CTCTCTCT	FREM2	ENSG00000150893.11	transcript	ENST00000280481.9	protein_coding	6/23			chr13	TogoVar
FREM2_chr13_38682077_38892131	38813537	CTCTCTCT others(25): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTATATA	C C	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0004 a0002c0011t0004	a0002c0011t0004g0211 a0002c0011t0004g0211	1	262	0.0038	-32	c.601 others(53): Show c.6019+28731_6019+28762delCTCTCTCTCTCTCTCTCTCTCTCT CTATATAT	FREM2	ENSG00000150893.11	transcript	ENST00000280481.9	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr13	TogoVar
FREM2_chr13_38682077_38892131	38813539	CTCTCTCT others(25): Show CTCTCTCTCTCTCTCTCTCTCTCTCTATATATA	C C	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0141 a0001c0002t0004g0141	1	262	0.0038	-32	c.601 others(53): Show c.6019+28733_6019+28764delCTCTCTCTCTCTCTCTCTCTCTCT ATATATAT	FREM2	ENSG00000150893.11	transcript	ENST00000280481.9	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr13	TogoVar
FREM2_chr13_38682077_38892131	38813541	CTCTCTCT others(25): Show CTCTCTCTCTCTCTCTCTCTCTCTATATATATA	C C	intron_variant intron_variant	MODIFIER	HG02135.hp1 NA19087.hp2 HG02135.hp1 NA19087.hp2	a0003 a0042 a0003 a0042	a0003c0005 a0042c0080 a0003c0005 a0042c0080	a0003c0005t0001 a0042c0080t0004 a0003c0005t0001 a0042c0080t0004	a0003c0005t0001g0071 a0042c0080t0004g0088 a0003c0005t0001g0071 a0042c0080t0004g0088	2	262	0.0076	-32	c.601 others(53): Show c.6019+28735_6019+28766delCTCTCTCTCTCTCTCTCTCTCTAT ATATATAT	FREM2	ENSG00000150893.11	transcript	ENST00000280481.9	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr13	TogoVar
FREM2_chr13_38682077_38892131	38813543	CTCTCTCT others(25): Show CTCTCTCTCTCTCTCTCTCTCTATATATATATA	C C	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0163 a0001c0002t0005g0163	1	262	0.0038	-32	c.601 others(53): Show c.6019+28737_6019+28768delCTCTCTCTCTCTCTCTCTCTATAT ATATATAT	FREM2	ENSG00000150893.11	transcript	ENST00000280481.9	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr13	TogoVar
FRMD3_chr9_83239622_83543401	83320528	TATTTGCT others(25): Show TATTTGCTGAAAATACAATTTTCAGCAAATAAA	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02622.hp1 HG02258.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0037 a0001c0001t0024 a0001c0001t0037	a0001c0001t0024g0227 a0001c0001t0037g0030 a0001c0001t0024g0227 a0001c0001t0037g0030	2	242	0.0083	-32	c.597 others(49): Show c.597-6813_597-6782delTTTATTTGCTGAAAATTGTATTTTCAGC AAAT	FRMD3	ENSG00000172159.16	transcript	ENST00000304195.8	protein_coding	6/13			chr9	TogoVar
FRMD3_chr9_83239622_83543401	83357214	AATATATA others(25): Show AATATATATATTTTATATATATATAATACATAC	A A	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG03834.hp1 NA18986.hp2 others(1): Show HG01515.hp2 HG03834.hp1 NA18986.hp2 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0005 a0001c0001t0031 others(1): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0031 a0001c0002t0007	a0001c0001t0002g0215 a0001c0001t0005g0176 a0001c0001t0031g0180 others(1): Show a0001c0001t0002g0215 a0001c0001t0005g0176 a0001c0001t0031g0180 a0001c0002t0007g0239	4	242	0.0165	-32	c.296 others(49): Show c.296-7489_296-7458delGTATGTATTATATATATATAAAATATAT ATAT	FRMD3	ENSG00000172159.16	transcript	ENST00000304195.8	protein_coding	3/13			chr9	TogoVar
FRMD3_chr9_83239622_83543401	83362804	TTCCTTCC others(25): Show TTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp1 HG00544.hp1 others(22): Show HG00423.hp1 HG00438.hp1 HG00544.hp1 HG00735.hp1 HG01496.hp2 HG02004.hp2 HG02074.hp1 HG03834.hp1 NA18747.hp2 NA18946.hp2 NA18949.hp2 NA18951.hp2 NA18952.hp2 NA18954.hp1 NA18957.hp1 NA18960.hp1 NA18961.hp2 NA18967.hp2 NA18970.hp2 NA18980.hp2 NA18988.hp1 NA19060.hp2 NA19064.hp1 NA19065.hp1 NA19091.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0013 a0001c0001t0052 a0001c0002t0007 a0001c0002t0029 a0001c0002t0047 a0001c0002t0067 a0002c0003t0014 a0002c0003t0017 a0002c0003t0061	a0001c0001t0001g0136 a0001c0001t0002g0106 a0001c0001t0002g0132 others(22): Show a0001c0001t0001g0136 a0001c0001t0002g0106 a0001c0001t0002g0132 a0001c0001t0004g0096 a0001c0001t0004g0100 a0001c0001t0004g0126 a0001c0001t0004g0168 a0001c0001t0004g0207 a0001c0001t0004g0220 a0001c0001t0004g0231 a0001c0001t0004g0233 a0001c0001t0005g0122 a0001c0001t0005g0130 a0001c0001t0005g0204 a0001c0001t0008g0022 a0001c0001t0013g0167 a0001c0001t0052g0083 a0001c0002t0007g0209 a0001c0002t0007g0239 a0001c0002t0029g0241 a0001c0002t0047g0039 a0001c0002t0067g0127 a0002c0003t0014g0125 a0002c0003t0017g0086 a0002c0003t0061g0128	25	242	0.1033	-32	c.295 others(51): Show c.295+10077_295+10108delGGGAGGGAAGGAAGGAGGGAGGGAAG GAAGGA	FRMD3	ENSG00000172159.16	transcript	ENST00000304195.8	protein_coding	3/13			chr9	TogoVar
FRMD3_chr9_83239622_83543401	83378735	ACTTTATA others(25): Show ACTTTATATTATATATAATATATAATTTATATT	A A	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02055.hp1 HG01123.hp2 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0011 a0001c0001t0010 a0001c0001t0011	a0001c0001t0010g0094 a0001c0001t0011g0093 a0001c0001t0010g0094 a0001c0001t0011g0093	2	242	0.0083	-32	c.253 others(49): Show c.253-5812_253-5781delAATATAAATTATATATTATATATAATAT AAAG	FRMD3	ENSG00000172159.16	transcript	ENST00000304195.8	protein_coding	2/13			chr9	TogoVar
FRMD3_chr9_83239622_83543401	83479765	GGGAGGGA others(25): Show GGGAGGGAGGGAGGGAGGGAGGGAAGGAAGGAA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00438.hp1 HG00438.hp2 others(24): Show HG00099.hp2 HG00438.hp1 HG00438.hp2 HG00621.hp1 HG01109.hp1 HG01168.hp1 HG01192.hp1 HG01496.hp1 HG02165.hp1 HG02572.hp1 HG03831.hp2 HG04115.hp2 HG04199.hp2 HG04228.hp1 NA18944.hp1 NA18948.hp1 NA18951.hp1 NA18957.hp1 NA18967.hp2 NA18986.hp2 NA18990.hp1 NA19043.hp1 NA19065.hp1 NA19066.hp2 NA19084.hp1 NA20752.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0016 a0001c0001t0031 a0001c0001t0041 a0001c0001t0052 a0001c0001t0054 a0001c0002t0003 a0001c0002t0007 a0001c0002t0048 a0002c0003t0014 a0002c0003t0017 a0002c0003t0061	a0001c0001t0001g0141 a0001c0001t0001g0185 a0001c0001t0002g0138 others(24): Show a0001c0001t0001g0141 a0001c0001t0001g0185 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0219 a0001c0001t0004g0123 a0001c0001t0004g0129 a0001c0001t0005g0200 a0001c0001t0005g0214 a0001c0001t0008g0034 a0001c0001t0009g0046 a0001c0001t0009g0085 a0001c0001t0010g0028 a0001c0001t0010g0089 a0001c0001t0012g0146 a0001c0001t0016g0031 a0001c0001t0031g0180 a0001c0001t0041g0059 a0001c0001t0052g0083 a0001c0001t0054g0181 a0001c0002t0003g0084 a0001c0002t0007g0124 a0001c0002t0007g0135 a0001c0002t0048g0044 a0002c0003t0014g0125 a0002c0003t0017g0086 a0002c0003t0061g0128	27	242	0.1116	-32	c.147 others(51): Show c.147+58288_147+58319delTTCCTTCCTTCCCTCCCTCCCTCCCT CCCTCC	FRMD3	ENSG00000172159.16	transcript	ENST00000304195.8	protein_coding	1/13			chr9	TogoVar
FRMD3_chr9_83239622_83543401	83507687	CATACATA others(25): Show CATACATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG03041.hp1 HG03209.hp2 HG02896.hp2 HG03041.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0015 a0001c0002t0028 a0001c0001t0001 a0001c0001t0015 a0001c0002t0028	a0001c0001t0001g0158 a0001c0001t0015g0107 a0001c0002t0028g0157 a0001c0001t0001g0158 a0001c0001t0015g0107 a0001c0002t0028g0157	3	242	0.0124	-32	c.147 others(51): Show c.147+30366_147+30397delATATATATATATATATATATATATAT ATGTAT	FRMD3	ENSG00000172159.16	transcript	ENST00000304195.8	protein_coding	1/13			chr9	TogoVar
FRMD4A_chr10_13638706_14335924	13884164	ACACTCAC others(25): Show ACACTCACACACTCACACACACACACACACACT	A A	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0061 a0001c0008t0001g0061	1	134	0.0075	-32	c.46- others(49): Show c.46-25284_46-25253delAGTGTGTGTGTGTGTGTGTGAGTGTGTG AGTG	FRMD4A	ENSG00000151474.23	transcript	ENST00000357447.7	protein_coding	2/24			chr10	TogoVar
FRMD4A_chr10_13638706_14335924	14128031	CCTTCCTT others(25): Show CCTTCCTTTCTTTCCCTCTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0039	1	134	0.0075	-32	c.45+ others(51): Show c.45+201995_45+202026delAAAGAAAGAAAGAAAGAGGGAAAGAA AGGAAG	FRMD4A	ENSG00000151474.23	transcript	ENST00000357447.7	protein_coding	2/24			chr10	TogoVar
FRMD4B_chr3_69163782_69391088	69267589	GTGTGTGT others(25): Show GTGTGTGTATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0005 a0002c0013t0005	a0002c0013t0005g0069 a0002c0013t0005g0069	1	224	0.0045	-32	c.502 others(51): Show c.502-17522_502-17491delTATATATATATATATATATATATATA CACACA	FRMD4B	ENSG00000114541.15	transcript	ENST00000398540.8	protein_coding	5/22			chr3	TogoVar
FRMD4B_chr3_69163782_69391088	69267614	TATATATA others(25): Show TATATATATATATATATATATATAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0013 a0002c0011t0013	a0002c0011t0013g0029 a0002c0011t0013g0029	1	224	0.0045	-32	c.502 others(51): Show c.502-17547_502-17516delCTCTCTCTCTATATATATATATATAT ATATAT	FRMD4B	ENSG00000114541.15	transcript	ENST00000398540.8	protein_coding	5/22			chr3	TogoVar
FRMD4B_chr3_69163782_69391088	69267616	TATATATA others(25): Show TATATATATATATATATATATAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0167 a0002c0002t0002g0167	1	224	0.0045	-32	c.502 others(51): Show c.502-17549_502-17518delCTCTCTCTCTCTATATATATATATAT ATATAT	FRMD4B	ENSG00000114541.15	transcript	ENST00000398540.8	protein_coding	5/22			chr3	TogoVar
FRMD4B_chr3_69163782_69391088	69267620	TATATATA others(25): Show TATATATATATATATATAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0179 a0001c0001t0051g0179	1	224	0.0045	-32	c.502 others(51): Show c.502-17553_502-17522delCTCTCTCTCTCTCTCTATATATATAT ATATAT	FRMD4B	ENSG00000114541.15	transcript	ENST00000398540.8	protein_coding	5/22			chr3	TogoVar
FRMD4B_chr3_69163782_69391088	69267624	TATATATA others(25): Show TATATATATATATAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0125 a0003c0003t0003g0125	1	224	0.0045	-32	c.502 others(51): Show c.502-17557_502-17526delCTCTCTCTCTCTCTCTCTCTATATAT ATATAT	FRMD4B	ENSG00000114541.15	transcript	ENST00000398540.8	protein_coding	5/22			chr3	TogoVar
FRMD4B_chr3_69163782_69391088	69323608	GTATATAT others(25): Show GTATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA20129.hp1 NA19063.hp2 NA20129.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0014 a0003c0003t0008 a0001c0001t0014 a0003c0003t0008	a0001c0001t0014g0024 a0003c0003t0008g0164 a0001c0001t0014g0024 a0003c0003t0008g0164	2	224	0.0089	-32	c.163 others(51): Show c.163-10123_163-10092delTATATATATATATATATATATATATA TATATA	FRMD4B	ENSG00000114541.15	transcript	ENST00000398540.8	protein_coding	1/22			chr3	TogoVar
FRMD4B_chr3_69163782_69391088	69375005	AACCCACC others(25): Show AACCCACCCACCCATCCAATCATCCATCCACCC	A A	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG04199.hp1 HG03490.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0023 a0001c0001t0001 a0001c0001t0023	a0001c0001t0001g0218 a0001c0001t0023g0203 a0001c0001t0001g0218 a0001c0001t0023g0203	2	224	0.0089	-32	c.162 others(51): Show c.162+10791_162+10822delGGGTGGATGGATGATTGGATGGGTGG GTGGGT	FRMD4B	ENSG00000114541.15	transcript	ENST00000398540.8	protein_coding	1/22			chr3	TogoVar
FRMPD4_chrX_12133473_12729523	12612796	TGCACATA others(25): Show TGCACATAATACTTATAATAAGTTTCCCAAGTG	T T	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0095 a0001c0002t0001g0095	1	174	0.0058	-32	c.320 others(49): Show c.320-1981_320-1950delCACATAATACTTATAATAAGTTTCCCAA GTGG	FRMPD4	ENSG00000169933.17	transcript	ENST00000675598.1	protein_coding	3/16		INFO_REALIGN_3_PRIME	chrX	TogoVar
FRYL_chr4_48492357_48785279	48506615	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00438.hp1 others(42): Show HG00140.hp1 HG00323.hp2 HG00438.hp1 HG00558.hp1 HG00597.hp2 HG00733.hp2 HG00735.hp2 HG01358.hp2 HG01361.hp1 HG01516.hp1 HG01517.hp2 HG02015.hp2 HG02040.hp1 HG02071.hp2 HG02074.hp2 HG02155.hp2 HG03834.hp1 NA18939.hp2 NA18942.hp1 NA18944.hp1 NA18947.hp1 NA18948.hp1 NA18954.hp1 NA18955.hp2 NA18963.hp2 NA18965.hp1 NA18970.hp1 NA18971.hp2 NA18972.hp1 NA18973.hp2 NA18974.hp1 NA18978.hp1 NA18983.hp2 NA18984.hp1 NA18991.hp2 NA18993.hp2 NA19003.hp2 NA19007.hp2 NA19012.hp2 NA19054.hp1 NA19063.hp1 NA19088.hp2 NA20805.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0010 a0023 a0001 a0010 a0023	a0001c0001 a0001c0011 a0010c0028 others(1): Show a0001c0001 a0001c0011 a0010c0028 a0023c0033	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0014 a0001c0011t0001 a0010c0028t0001 a0023c0033t0002	a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 others(42): Show a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0136 a0001c0001t0001g0188 a0001c0001t0001g0194 a0001c0001t0001g0246 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0270 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0003g0164 a0001c0001t0014g0269 a0001c0011t0001g0190 a0001c0011t0001g0191 a0010c0028t0001g0192 a0023c0033t0002g0271	45	282	0.1596	-32	c.839 others(51): Show c.8395-1032_8395-1001delATATATATATATATATATATATATAT ATATAT	FRYL	ENSG00000075539.15	transcript	ENST00000358350.9	protein_coding	59/63			chr4	TogoVar
FSD1L_chr9_105443034_105557433	105452665	GCCTGCCT others(25): Show GCCTGCCTTCCTTCCTTCCTTCCTTCCTTCCTT	G G	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0313 a0001c0001t0011g0313	1	380	0.0026	-32	c.15+ others(47): Show c.15+4434_15+4465delGCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CT	FSD1L	ENSG00000106701.13	transcript	ENST00000481272.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
FSHR_chr2_48957157_49159515	49023941	GTTGGGGT others(25): Show GTTGGGGTAGGGTGTTTTCCAATATTGAGGACT	G G	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0019 a0003c0003t0002g0019	1	350	0.0029	-32	c.225 others(49): Show c.225-3813_225-3782delAGTCCTCAATATTGGAAAACACCCTACC CCAA	FSHR	ENSG00000170820.12	transcript	ENST00000406846.7	protein_coding	2/9			chr2	TogoVar
FSTL1_chr3_120387293_120455992	120412806	ACACACAC others(25): Show ACACACACACATGTGCGCGCGCGCGCGCGCGCG	A A	intron_variant intron_variant	MODIFIER	HG02071.hp1 NA18612.hp2 NA18747.hp1 others(3): Show HG02071.hp1 NA18612.hp2 NA18747.hp1 NA18978.hp1 NA18993.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0021 a0001c0001t0002 a0001c0001t0021	a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0067 others(1): Show a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0067 a0001c0001t0021g0045	6	332	0.0181	-32	c.169 others(47): Show c.169-855_169-824delCGCGCGCGCGCGCGCGCGCACATGTGTGTG TG	FSTL1	ENSG00000163430.13	transcript	ENST00000295633.8	protein_coding	3/10			chr3	TogoVar

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