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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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
KIAA0930_chr22_45187244_45245894	45229320	T T	TCCCCACC others(197): Show TCCCCACCACCACTCACCTGAAAGATCCCTCTCCACCCCCCCACCACTAA ACACTCACCCGAAAGATCCCTCTCCATGCCCCCCCACCACCAAACACTCA CCTGAAAGATCCCTCTCCACCCCCCCACCACCAAACACTCACCTGAAAGA TCCCTCTCCACCCCCCCACCACCAAACACTCACCTGAAAGATCCCTCTCC ACCCC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG02027.hp2 others(2): Show HG00099.hp2 HG00140.hp1 HG02027.hp2 HG02451.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0023 others(2): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0023 a0001c0001t0103 a0001c0001t0129	a0001c0001t0002g0272 a0001c0001t0007g0174 a0001c0001t0023g0173 others(2): Show a0001c0001t0002g0272 a0001c0001t0007g0174 a0001c0001t0023g0173 a0001c0001t0103g0312 a0001c0001t0129g0320	5	398	0.0126	204	c.64+ others(221): Show c.64+11319_64+11320insGGGGTGGAGAGGGATCTTTCAGGTGAGT GTTTGGTGGTGGGGGGGTGGAGAGGGATCTTTCAGGTGAGTGTTTGGTGG TGGGGGGGTGGAGAGGGATCTTTCAGGTGAGTGTTTGGTGGTGGGGGGGC ATGGAGAGGGATCTTTCGGGTGAGTGTTTAGTGGTGGGGGGGTGGAGAGG GATCTTTCAGGTGAGTGGTGGTGGGG	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KIAA0930_chr22_45187244_45245894	45229322	C C	CCCACCAC others(197): Show CCCACCACCACTCACCTGAAAGATCCCTCTCCACCCCCCCACCACTAAAC ACTCACCCGAAAGATCCCTCTCCATGCCCCCCCACCACCAAACACTCACC TGAAAGATCCCTCTCCACCCCCCCACCACCAAACACTCACCTGAAAGATC CCTCTCCACCCCCCCACCACCAAACACTCACCTGAAAGATCCCTCTCCAC CCCCG	intron_variant intron_variant	MODIFIER	HG01071.hp2 NA20905.hp2 HG01071.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0341 a0001c0001t0012g0229 a0001c0001t0001g0341 a0001c0001t0012g0229	2	398	0.0050	204	c.64+ others(221): Show c.64+11317_64+11318insCGGGGGTGGAGAGGGATCTTTCAGGTGA GTGTTTGGTGGTGGGGGGGTGGAGAGGGATCTTTCAGGTGAGTGTTTGGT GGTGGGGGGGTGGAGAGGGATCTTTCAGGTGAGTGTTTGGTGGTGGGGGG GCATGGAGAGGGATCTTTCGGGTGAGTGTTTAGTGGTGGGGGGGTGGAGA GGGATCTTTCAGGTGAGTGGTGGTGG	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KIAA1958_chr9_112481827_112674397	112525918	T T	TTTCTTCT others(197): Show TTTCTTCTTCTTCTTCTTCTCCTTCTTCTTCTCCTTCTTCTTCTTCTTCT TCTCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTC TTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTC CTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTCTTCT TCTTC	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0143 a0001c0001t0003g0143	1	308	0.0033	204	c.-25 others(223): Show c.-25+38819_-25+38820insCCTTCTTCTTCTCCTTCTTCTTCTTC TTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTTCTTCTC CTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCT	KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
KIAA1958_chr9_112481827_112674397	112525918	T T	TTTCTTCT others(197): Show TTTCTTCTTCTTCTTCTTCTCCTTCTTCTTCTCCTTCTTCTTCTTCTTCT TCTCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTC TTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTT CTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCT TCTTC	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0029 a0001c0001t0039g0029	1	308	0.0033	204	c.-25 others(223): Show c.-25+38819_-25+38820insCCTTCTTCTTCTCCTTCTTCTTCTTC TTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTTCTTCTC CTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCT	KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
KIAA1958_chr9_112481827_112674397	112525918	T T	TTTCTTCT others(197): Show TTTCTTCTTCTTCTTCTTCTCCTTCTTCTTCTCCTTCTTCTTCTTCTTCT TCTCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTC TTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTT CTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTCTTCT TCTTC	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG01168.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0017 a0001c0001t0001g0018	2	308	0.0065	204	c.-25 others(223): Show c.-25+38819_-25+38820insCCTTCTTCTTCTCCTTCTTCTTCTTC TTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTTCTTCTC CTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCT	KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
KIAA1958_chr9_112481827_112674397	112525918	T T	TTTCTTCT others(197): Show TTTCTTCTTCTTCTTCTTCTCCTTCTTCTTCTCCTTCTTCTTCTTCTTCT TCTCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTC TTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTC CTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCT TCTTC	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0076 a0001c0001t0024g0076	1	308	0.0033	204	c.-25 others(223): Show c.-25+38819_-25+38820insCCTTCTTCTTCTCCTTCTTCTTCTTC TTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTTCTTCTC CTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT TCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCT	KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
KIAA1958_chr9_112481827_112674397	112525918	T T	TTTCTTCT others(197): Show TTTCTTCTTCTTCTTCTTCTCCTTCTTCTTCTCCTTCTTCTTCTTCTTCT TCTCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTC TTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTC CTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTCTTCT TCTTC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG02735.hp1 HG03239.hp1 HG00140.hp1 HG02735.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0032 a0001c0001t0037 a0001c0001t0005 a0001c0001t0032 a0001c0001t0037	a0001c0001t0005g0115 a0001c0001t0032g0124 a0001c0001t0037g0045 a0001c0001t0005g0115 a0001c0001t0032g0124 a0001c0001t0037g0045	3	308	0.0097	204	c.-25 others(223): Show c.-25+38819_-25+38820insCCTTCTTCTTCTCCTTCTTCTTCTTC TTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTTCTTCTC CTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT TCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCT	KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
KIAA1958_chr9_112481827_112674397	112525964	T T	TTCTCCTT others(197): Show TTCTCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTT CTTCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCT TCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTCCTTCCTCTTCTTCTTCCTCTTCTT CTTCC	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG02293.hp1 HG01943.hp2 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0231 a0001c0001t0002g0223 a0001c0001t0001g0231 a0001c0001t0002g0223	2	308	0.0065	204	c.-25 others(223): Show c.-25+38849_-25+38850insCCTTCTTCTCCTTCTTCTTCTCCTTC TTCTCCTTCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTCCTTCTC CTTCTCCTTCTCCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTCCTTC CTCTTCTTCTTCCTCTTCTTCTTCCTCT	KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
KIAA1958_chr9_112481827_112674397	112525970	T T	TCCTTCTT others(197): Show TCCTTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTTCTCCTTCTT CTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTCCT TCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCCTCTTCTTCTTCCTCTTCTTCCTCTTCTT CTTCC	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18970.hp1 NA19000.hp1 others(2): Show NA18965.hp2 NA18970.hp1 NA19000.hp1 NA19075.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0021 a0001c0001t0001 a0001c0001t0021	a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0140 others(2): Show a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0140 a0001c0001t0021g0135 a0001c0001t0021g0136	5	308	0.0162	204	c.-25 others(223): Show c.-25+38852_-25+38853insCCTTCTTCTCCTTCTTCTCCTTCTTC TTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTC CTTCTCCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTTC TTCTTCCTCTTCTTCCTCTTCTTCTTCC	KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3			chr9	TogoVar
KIAA1958_chr9_112481827_112674397	112525970	T T	TCCTTCTT others(197): Show TCCTTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTTCTCCTTCTT CTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTCCTTCTCCT TCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCCTCTTCTTCTTCCTCTTCTTCCTCTTCTT CTTCC	intron_variant intron_variant	MODIFIER	HG02129.hp2 NA18946.hp2 NA18953.hp1 others(1): Show HG02129.hp2 NA18946.hp2 NA18953.hp1 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0004 a0001c0002t0049 a0001c0001t0002 a0001c0002t0004 a0001c0002t0049	a0001c0001t0002g0173 a0001c0002t0004g0144 a0001c0002t0004g0168 others(1): Show a0001c0001t0002g0173 a0001c0002t0004g0144 a0001c0002t0004g0168 a0001c0002t0049g0145	4	308	0.0130	204	c.-25 others(223): Show c.-25+38852_-25+38853insCCTTCTTCTCCTTCTTCTCCTTCTTC TTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTC CTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTTC TTCTTCCTCTTCTTCCTCTTCTTCTTCC	KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3			chr9	TogoVar
KIAA1958_chr9_112481827_112674397	112525970	T T	TCCTTCTT others(197): Show TCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTCTT CTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTTCTTCTTCCTCTTCTT CTTCC	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0017 a0001c0003t0017	a0001c0003t0017g0189 a0001c0003t0017g0189	1	308	0.0033	204	c.-25 others(223): Show c.-25+38852_-25+38853insCCTTCTTCTCCTTCTTCTTCTCCTTC TTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTC CTTCTCCTTCTCCTTCTCCTTCTCCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCCTCTTCTTCTTCCTCTTCTTCTTCC	KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3			chr9	TogoVar
KIAA1958_chr9_112481827_112674397	112525970	T T	TCCTTCTT others(197): Show TCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTCTT CTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTCCT TCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTTCTTCTTCCTCTTCTT CTTCC	intron_variant intron_variant	MODIFIER	HG02071.hp1 NA18990.hp1 HG02071.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0024 a0001c0001t0002 a0001c0001t0024	a0001c0001t0002g0048 a0001c0001t0024g0053 a0001c0001t0002g0048 a0001c0001t0024g0053	2	308	0.0065	204	c.-25 others(223): Show c.-25+38852_-25+38853insCCTTCTTCTCCTTCTTCTTCTCCTTC TTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTC CTTCTCCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCCTCTTCTTCTTCCTCTTCTTCTTCC	KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3			chr9	TogoVar
KIAA1958_chr9_112481827_112674397	112525970	T T	TCCTTCTT others(197): Show TCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTCTT CTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTCCT TCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTTCTTCTTCCTCTTCTT CTTCC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02258.hp1 HG02257.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0041 a0001c0003t0017 a0001c0001t0041 a0001c0003t0017	a0001c0001t0041g0084 a0001c0003t0017g0085 a0001c0001t0041g0084 a0001c0003t0017g0085	2	308	0.0065	204	c.-25 others(223): Show c.-25+38852_-25+38853insCCTTCTTCTCCTTCTTCTTCTCCTTC TTCTCCTTCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTCCTTCTC CTTCTCCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCCTCTTCTTCTTCCTCTTCTTCTTCC	KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3			chr9	TogoVar
KIF17_chr1_20659014_20723007	20712841	G G	GATATTAT others(197): Show GATATTATCTATATTATAGATATAGATATTTATATCTATAATATAGATAT AGATATTATCTATATCTATAATATAGATAATATTATCTATATCTATAATA TAGATAATATTATCTATATCTATAATATAGATAATATTATCTATATCTAT AATATAGATAATATTATCTATATCTATAATATAGATAATATTATCTATAT CTATA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01255.hp2 HG02080.hp2 others(4): Show HG00423.hp2 HG01255.hp2 HG02080.hp2 HG02698.hp2 HG03654.hp2 NA19005.hp2 NA19074.hp2	a0001 a0002 a0001 a0002	a0001c0005 a0002c0003 a0002c0010 a0001c0005 a0002c0003 a0002c0010	a0001c0005t0001 a0001c0005t0002 a0002c0003t0001 others(1): Show a0001c0005t0001 a0001c0005t0002 a0002c0003t0001 a0002c0010t0001	a0001c0005t0001g0156 a0001c0005t0002g0150 a0002c0003t0001g0050 others(4): Show a0001c0005t0001g0156 a0001c0005t0002g0150 a0002c0003t0001g0050 a0002c0003t0001g0152 a0002c0003t0001g0153 a0002c0010t0001g0045 a0002c0010t0001g0154	7	414	0.0169	204	c.480 others(219): Show c.480+612_480+613insTATAGATATAGATAATATTATCTATATTAT AGATATAGATAATATTATCTATATTATAGATATAGATAATATTATCTATA TTATAGATATAGATAATATTATCTATATTATAGATATAGATAATATTATC TATATTATAGATATAGATAATATCTATATCTATATTATAGATATAAATAT CTATATCTATAATATAGATAATAT	KIF17	ENSG00000117245.13	transcript	ENST00000400463.8	protein_coding	3/14			chr1	TogoVar
KIF17_chr1_20659014_20723007	20712841	G G	GATATTAT others(197): Show GATATTATCTATATTATAGATATAGATATTTATATCTATAATATAGATAT AGATATTTATATCTATAATATAGATATAGATATTATCTATATCTATAATA TAGATAATATTATCTATATCTATAATATAGATAATATTATCTATATCTAT AATATAGATAATATTATCTATATCTATAATATAGATAATATTATCTATAT CTATA	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0179 a0001c0009t0002g0179	1	414	0.0024	204	c.480 others(219): Show c.480+612_480+613insTATAGATATAGATAATATTATCTATATTAT AGATATAGATAATATTATCTATATTATAGATATAGATAATATTATCTATA TTATAGATATAGATAATATTATCTATATTATAGATATAGATAATATCTAT ATCTATATTATAGATATAAATATCTATATCTATATTATAGATATAAATAT CTATATCTATAATATAGATAATAT	KIF17	ENSG00000117245.13	transcript	ENST00000400463.8	protein_coding	3/14			chr1	TogoVar
KIF26A_chr14_104133587_104185894	104185779	A A	ATGGGGTG others(197): Show ATGGGGTGGGGTGATTGTAGGGGATGGGGTGGGGTAGAGGGGTGGGGTGG GGTGATTGTAGGGGATAGGGTGGGGTAGAGGGGTGGGGTGGGGTGATTGT AGGGGGTGGGGTGGGGTAGAGGGGTGGGGTGGGGTGATTGTAGGGGATGG GGTGGGGTAGAGGGATGGGGTGGGGTGATTGTAGGGGGTGGGTGGGGTAG AGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0007 a0001c0017t0007	a0001c0017t0007g0154 a0001c0017t0007g0154	1	374	0.0027	204	c.59 others(215): Show c.5989_*5990insTGGGGTGGGGTGATTGTAGGGGATGGGGTGGGGT AGAGGGGTGGGGTGGGGTGATTGTAGGGGATAGGGTGGGGTAGAGGGGTG GGGTGGGGTGATTGTAGGGGGTGGGGTGGGGTAGAGGGGTGGGGTGGGGT GATTGTAGGGGATGGGGTGGGGTAGAGGGATGGGGTGGGGTGATTGTAGG GGGTGGGTGGGGTAGAGGGG	KIF26A	ENSG00000066735.16	transcript	ENST00000423312.7	protein_coding		4886		chr14	TogoVar
KIF26A_chr14_104133587_104185894	104185779	A A	ATGGGGTG others(197): Show ATGGGGTGGGGTGATTGTAGGGGATGGGGTGGGGTAGAGGGGTGGGGTGG GGTGATTGTAGGGGATGGGGTGGGGTAGAGGGGTGGGGTGGGGTGATTGT AGGGGGTGGGGTGGGGTAGAGGGGTGGGGTGGGGTGATTGTAGGGGATGG GGTGGGGTAGAGGGATGGGGTGGGGTGATTGTAGGGGGTGGGTGGGGTAG AGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02258.hp2 HG02622.hp1 others(6): Show HG02257.hp2 HG02258.hp2 HG02622.hp1 HG02630.hp1 HG02895.hp1 HG02965.hp1 HG02976.hp1 HG03041.hp2 NA18522.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0002 a0001c0017 a0001c0021 others(4): Show a0001c0002 a0001c0017 a0001c0021 a0001c0089 a0002c0050 a0003c0012 a0006c0010	a0001c0002t0007 a0001c0017t0007 a0001c0021t0007 others(4): Show a0001c0002t0007 a0001c0017t0007 a0001c0021t0007 a0001c0089t0007 a0002c0050t0007 a0003c0012t0007 a0006c0010t0007	a0001c0002t0007g0049 a0001c0002t0007g0050 a0001c0017t0007g0083 others(6): Show a0001c0002t0007g0049 a0001c0002t0007g0050 a0001c0017t0007g0083 a0001c0021t0007g0355 a0001c0089t0007g0028 a0002c0050t0007g0156 a0003c0012t0007g0034 a0003c0012t0007g0096 a0006c0010t0007g0253	9	374	0.0241	204	c.59 others(215): Show c.5989_*5990insTGGGGTGGGGTGATTGTAGGGGATGGGGTGGGGT AGAGGGGTGGGGTGGGGTGATTGTAGGGGATGGGGTGGGGTAGAGGGGTG GGGTGGGGTGATTGTAGGGGGTGGGGTGGGGTAGAGGGGTGGGGTGGGGT GATTGTAGGGGATGGGGTGGGGTAGAGGGATGGGGTGGGGTGATTGTAGG GGGTGGGTGGGGTAGAGGGG	KIF26A	ENSG00000066735.16	transcript	ENST00000423312.7	protein_coding		4886		chr14	TogoVar
KRTAP21-2_chr21_30741794_30752259	30742222	C C	CAGCCAGA others(197): Show CAGCCAGAGCCATATCCACAGCCAGAGCCATATCCATAACCATAGCCACA GCCAGAGCCATATCCACAACCATAGCCACAGCCAGTTCCATATCCAGAGC CGTATTGACAGCCAGAGCCACATCCACAGCCAGAGCCACATCCACAGCCA GAGCCATATCCACAGCCATAGCCAGAGCCAGAGCCATATCCACAACCATA GCCAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG00558.hp1 others(91): Show HG00408.hp1 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00621.hp1 HG00673.hp1 HG00741.hp1 HG00741.hp2 HG01175.hp1 HG01243.hp1 HG01884.hp1 HG01891.hp1 HG02015.hp2 HG02040.hp1 HG02055.hp1 HG02056.hp1 HG02074.hp2 HG02083.hp1 HG02257.hp2 HG02486.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02723.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG02896.hp2 HG02922.hp1 HG03041.hp2 HG03098.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03516.hp1 HG03516.hp2 HG03654.hp1 HG03942.hp1 HG06807.hp2 NA18747.hp2 NA18939.hp2 NA18943.hp2 NA18946.hp2 NA18947.hp2 NA18948.hp2 NA18949.hp1 NA18951.hp2 NA18953.hp1 NA18956.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18977.hp1 NA18978.hp1 NA18979.hp2 NA18980.hp1 NA18982.hp1 NA18984.hp1 NA18986.hp1 NA18989.hp2 NA18990.hp1 NA18998.hp1 NA19000.hp2 NA19002.hp2 NA19003.hp2 NA19006.hp1 NA19011.hp1 NA19012.hp2 NA19054.hp1 NA19055.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19059.hp2 NA19060.hp1 NA19062.hp2 NA19064.hp1 NA19065.hp1 NA19076.hp2 NA19078.hp2 NA19082.hp2 NA19091.hp2	a0002 a0002	a0002c0002 a0002c0005 a0002c0002 a0002c0005	a0002c0002t0002 a0002c0005t0002 a0002c0002t0002 a0002c0005t0002	a0002c0002t0002g0000 a0002c0005t0002g0000 a0002c0002t0002g0000 a0002c0005t0002g0000	94	380	0.2474	204	c.47 others(215): Show c.4728_*4729insCTGGCTATGGTTGTGGATATGGCTCTGGCTCTGG CTATGGCTGTGGATATGGCTCTGGCTGTGGATGTGGCTCTGGCTGTGGAT GTGGCTCTGGCTGTCAATACGGCTCTGGATATGGAACTGGCTGTGGCTAT GGTTGTGGATATGGCTCTGGCTGTGGCTATGGTTATGGATATGGCTCTGG CTGTGGATATGGCTCTGGCT	KRTAP21-2	ENSG00000187026.3	transcript	ENST00000333892.3	protein_coding		4571		chr21	TogoVar
KRTAP21-2_chr21_30741794_30752259	30742222	C C	CAGCCAGA others(197): Show CAGCCAGAGCCATATCCACAGCCAGAGCCATATCCATAACCATAGCCACA GCCAGAGCCATATCCACAACCATAGCCACAGCCAGTTCCATATCCAGAGC TGTATTGACAGCCAGAGCCACATCCACAGCCAGAGCCACATCCACAGCCA GAGCCATATCCACAGCCATAGCCAGAGCCAGAGCCATATCCACAACCATA GCCAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 HG01256.hp2 HG01258.hp1 others(6): Show HG00609.hp2 HG01256.hp2 HG01258.hp1 HG02071.hp1 HG02080.hp2 HG02129.hp1 NA18979.hp1 NA18991.hp1 NA19056.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0000 a0002c0002t0002g0000	9	380	0.0237	204	c.47 others(215): Show c.4728_*4729insCTGGCTATGGTTGTGGATATGGCTCTGGCTCTGG CTATGGCTGTGGATATGGCTCTGGCTGTGGATGTGGCTCTGGCTGTGGAT GTGGCTCTGGCTGTCAATACAGCTCTGGATATGGAACTGGCTGTGGCTAT GGTTGTGGATATGGCTCTGGCTGTGGCTATGGTTATGGATATGGCTCTGG CTGTGGATATGGCTCTGGCT	KRTAP21-2	ENSG00000187026.3	transcript	ENST00000333892.3	protein_coding		4571		chr21	TogoVar
KRTAP21-2_chr21_30741794_30752259	30742242	G G	GCCAGAGC others(197): Show GCCAGAGCCATATCCATAACCATAGCCACAGCCAGAGCCATATCCACAAC CATAGCCACAGCCAGTTCCATATCCAGAGCCGTATTGACAGCCAGAGCCA CATCCACAGCCAGAGCCACATCCACAGCCAGAGCCATATCCACAGCCATA GCCAGAGCCAGAGCCATATCCACAACCATAGCCAGAGCCAGAGCCATATC CACAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0000 a0002c0002t0002g0000	1	380	0.0026	204	c.47 others(215): Show c.4708_*4709insTTGTGGATATGGCTCTGGCTCTGGCTATGGTTGT GGATATGGCTCTGGCTCTGGCTATGGCTGTGGATATGGCTCTGGCTGTGG ATGTGGCTCTGGCTGTGGATGTGGCTCTGGCTGTCAATACGGCTCTGGAT ATGGAACTGGCTGTGGCTATGGTTGTGGATATGGCTCTGGCTGTGGCTAT GGTTATGGATATGGCTCTGG	KRTAP21-2	ENSG00000187026.3	transcript	ENST00000333892.3	protein_coding		4551		chr21	TogoVar
KRTAP21-2_chr21_30741794_30752259	30742244	C C	CAGAGCCA others(197): Show CAGAGCCATATCCATAACCATAGCCACAGCCAGAGCCATATCCACAACCA TAGCCACAGCCAGTTCCATATCCAGAGCCGTATTGACAGCCAGAGCCACA TCCACAGCCAGAGCCACATCCACAGCCAGAGCCATATCCACAGCCATAGC CAGAGCCAGAGCCATATCCACAACCATAGCCAGAGCCAGAGCCATATCCA CAGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18952.hp2 NA18966.hp2 NA19080.hp1 NA18952.hp2 NA18966.hp2 NA19080.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0000 a0002c0002t0002g0000	3	380	0.0079	204	c.47 others(215): Show c.4706_*4707insTGCTGTGGATATGGCTCTGGCTCTGGCTATGGTT GTGGATATGGCTCTGGCTCTGGCTATGGCTGTGGATATGGCTCTGGCTGT GGATGTGGCTCTGGCTGTGGATGTGGCTCTGGCTGTCAATACGGCTCTGG ATATGGAACTGGCTGTGGCTATGGTTGTGGATATGGCTCTGGCTGTGGCT ATGGTTATGGATATGGCTCT	KRTAP21-2	ENSG00000187026.3	transcript	ENST00000333892.3	protein_coding		4549		chr21	TogoVar
LDLRAD3_chr11_35939062_36237136	36055120	A A	ATTAGCTC others(197): Show ATTAGCTCCTGCTACATGGGAGATGCTTAGTACACTTTTGTTGAATGAAT CAATGAAAGAACAGTGAGTATTTACTAGTACTTGTGGGGGCAAATCATTG CTTGCATTCTTACATCTCTCTCACTACTGCTGTCTCAGAGCTAGTTTTCT CTTACCAGGAGGCCAGATGGGATTGCTGAGCAAGAATAAGATTGCTTCCA TCTGT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00639.hp2 HG01109.hp2 others(16): Show HG00597.hp2 HG00639.hp2 HG01109.hp2 HG01256.hp2 HG01258.hp2 HG01515.hp2 HG01517.hp1 HG02145.hp1 HG02257.hp1 HG02559.hp2 HG02735.hp1 HG02896.hp1 HG02897.hp2 HG02970.hp1 HG03669.hp1 HG06807.hp2 NA18957.hp1 NA18965.hp1 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0013	a0001c0001t0001g0024 a0001c0001t0001g0030 a0001c0001t0001g0059 others(16): Show a0001c0001t0001g0024 a0001c0001t0001g0030 a0001c0001t0001g0059 a0001c0001t0001g0087 a0001c0001t0001g0115 a0001c0001t0001g0210 a0001c0001t0003g0025 a0001c0001t0003g0066 a0001c0001t0003g0082 a0001c0001t0005g0092 a0001c0001t0005g0094 a0001c0001t0006g0221 a0001c0001t0009g0043 a0001c0002t0001g0152 a0001c0002t0001g0196 a0001c0002t0002g0006 a0001c0002t0003g0128 a0001c0002t0013g0184 a0001c0002t0013g0185	19	236	0.0805	204	c.193 others(223): Show c.193+18871_193+18872insTTAGCTCCTGCTACATGGGAGATGCT TAGTACACTTTTGTTGAATGAATCAATGAAAGAACAGTGAGTATTTACTA GTACTTGTGGGGGCAAATCATTGCTTGCATTCTTACATCTCTCTCACTAC TGCTGTCTCAGAGCTAGTTTTCTCTTACCAGGAGGCCAGATGGGATTGCT GAGCAAGAATAAGATTGCTTCCATCTGT	LDLRAD3	ENSG00000179241.13	transcript	ENST00000315571.6	protein_coding	2/5			chr11	TogoVar
LDLRAD3_chr11_35939062_36237136	36055122	A A	ATTAGCTC others(197): Show ATTAGCTCCTGCTACATGGGAGATGCTTAGTACACTTTTGTTGAATGAAT CAATGAAAGAACAGTGAGTATTTACTAGTACTTGTGGGGGCAAATCATTG CTTGCATTCTTACATCTCTCTCACTACTGCTGTCTCAGAGCTAGTTTTCT CTTACCAGGAGGCCAGATGGGATTGCTGAGCAAGAATAAGATTGCTTCCA TCTGT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01070.hp2 HG01071.hp2 others(12): Show HG00609.hp2 HG01070.hp2 HG01071.hp2 HG01109.hp1 HG02040.hp2 HG02129.hp2 HG02165.hp1 HG02165.hp2 HG02683.hp2 HG03492.hp2 NA18945.hp2 NA18951.hp1 NA19002.hp1 NA19085.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003	a0001c0001t0001g0058 a0001c0001t0001g0142 a0001c0001t0001g0145 others(12): Show a0001c0001t0001g0058 a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0001t0001g0166 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0002g0131 a0001c0001t0003g0029 a0001c0001t0003g0109 a0001c0001t0011g0211 a0001c0002t0001g0163 a0001c0002t0001g0212 a0001c0002t0002g0217 a0001c0002t0003g0077 a0001c0002t0003g0110	15	236	0.0636	204	c.193 others(223): Show c.193+18873_193+18874insTTAGCTCCTGCTACATGGGAGATGCT TAGTACACTTTTGTTGAATGAATCAATGAAAGAACAGTGAGTATTTACTA GTACTTGTGGGGGCAAATCATTGCTTGCATTCTTACATCTCTCTCACTAC TGCTGTCTCAGAGCTAGTTTTCTCTTACCAGGAGGCCAGATGGGATTGCT GAGCAAGAATAAGATTGCTTCCATCTGT	LDLRAD3	ENSG00000179241.13	transcript	ENST00000315571.6	protein_coding	2/5			chr11	TogoVar
LDLRAD3_chr11_35939062_36237136	36055124	A A	ATTAGCTC others(197): Show ATTAGCTCCTGCTACATGGGAGATGCTTAGTACACTTTTGTTGAATGAAT CAATGAAAGAACAGTGAGTATTTACTAGTACTTGTGGGGGCAAATCATTG CTTGCATTCTTACATCTCTCTCACTACTGCTGTCTCAGAGCTAGTTTTCT CTTACCAGGAGGCCAGATGGGATTGCTGAGCAAGAATAAGATTGCTTCCA TCTGT	intron_variant intron_variant	MODIFIER	HG03831.hp1 NA18612.hp1 NA19056.hp1 others(1): Show HG03831.hp1 NA18612.hp1 NA19056.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0016 a0001c0002t0001 others(1): Show a0001c0001t0003 a0001c0001t0016 a0001c0002t0001 a0001c0002t0003	a0001c0001t0003g0076 a0001c0001t0016g0034 a0001c0002t0001g0183 others(1): Show a0001c0001t0003g0076 a0001c0001t0016g0034 a0001c0002t0001g0183 a0001c0002t0003g0080	4	236	0.0170	204	c.193 others(223): Show c.193+18875_193+18876insTTAGCTCCTGCTACATGGGAGATGCT TAGTACACTTTTGTTGAATGAATCAATGAAAGAACAGTGAGTATTTACTA GTACTTGTGGGGGCAAATCATTGCTTGCATTCTTACATCTCTCTCACTAC TGCTGTCTCAGAGCTAGTTTTCTCTTACCAGGAGGCCAGATGGGATTGCT GAGCAAGAATAAGATTGCTTCCATCTGT	LDLRAD3	ENSG00000179241.13	transcript	ENST00000315571.6	protein_coding	2/5			chr11	TogoVar
LDLRAD3_chr11_35939062_36237136	36055126	A A	ATTAGCTC others(197): Show ATTAGCTCCTGCTACATGGGAGATGCTTAGTACACTTTTGTTGAATGAAT CAATGAAAGAACAGTGAGTATTTACTAGTACTTGTGGGGGCAAATCATTG CTTGCATTCTTACATCTCTCTCACTACTGCTGTCTCAGAGCTAGTTTTCT CTTACCAGGAGGCCAGATGGGATTGCTGAGCAAGAATAAGATTGCTTCCA TCTGT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0081 a0001c0002t0001g0081	1	236	0.0042	204	c.193 others(223): Show c.193+18877_193+18878insTTAGCTCCTGCTACATGGGAGATGCT TAGTACACTTTTGTTGAATGAATCAATGAAAGAACAGTGAGTATTTACTA GTACTTGTGGGGGCAAATCATTGCTTGCATTCTTACATCTCTCTCACTAC TGCTGTCTCAGAGCTAGTTTTCTCTTACCAGGAGGCCAGATGGGATTGCT GAGCAAGAATAAGATTGCTTCCATCTGT	LDLRAD3	ENSG00000179241.13	transcript	ENST00000315571.6	protein_coding	2/5			chr11	TogoVar
LHFPL3_chr7_104323603_104913561	104824184	A A	AATATATA others(197): Show AATATATATATTATATATTATATATTATATATATTATATATTATATATAT TATATTATATATTATATATATAATATATTATATATTATATATATTATATA ATATATTATATATTATATATATTATATAATATATTATATATATAATTATA TATATTTTATATATTATATATTATATATTATATATTATATACATTATATA TAATT	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	86	0.0116	204	c.683 others(223): Show c.683-81995_683-81994insATTATATATTATATATTATATATATT ATATATTATATATATTATATTATATATTATATATATAATATATTATATAT TATATATATTATATAATATATTATATATTATATATATTATATAATATATT ATATATATAATTATATATATTTTATATATTATATATTATATATTATATAT TATATACATTATATATAATTATATATAT	LHFPL3	ENSG00000187416.13	transcript	ENST00000424859.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
LHPP_chr10_124456823_124619141	124610828	T T	TGCGGGTG others(197): Show TGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTG GTGGAGCGGGTGCGGGTGCGGGTGCAGGTGAGGGTGCTGATGGAGCGGGC GAGGGTGAGGGTGAGGGTGCTGATGGAGCGGGTGAGGGTGCGGGTGAGGG TGCTGGTGGAGCGGGTGCGGGTGCGGGTGCAGGTGAGGGTGCTGATGGAG CGGGC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00735.hp1 HG01123.hp1 others(16): Show HG00323.hp2 HG00735.hp1 HG01123.hp1 HG01361.hp1 HG01981.hp1 HG02698.hp2 HG03490.hp1 HG03492.hp2 HG03704.hp2 HG03942.hp2 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18990.hp1 NA19012.hp2 NA19065.hp1 NA19081.hp1 NA19085.hp2 NA19091.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0018 a0002c0002t0001 a0001c0001t0001 a0001c0001t0018 a0002c0002t0001	a0001c0001t0001g0032 a0001c0001t0001g0038 a0001c0001t0001g0046 others(16): Show a0001c0001t0001g0032 a0001c0001t0001g0038 a0001c0001t0001g0046 a0001c0001t0001g0050 a0001c0001t0001g0065 a0001c0001t0001g0073 a0001c0001t0001g0077 a0001c0001t0001g0080 a0001c0001t0001g0084 a0001c0001t0001g0132 a0001c0001t0001g0144 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0187 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0018g0037 a0002c0002t0001g0129 a0002c0002t0001g0208	19	260	0.0731	204	c.717 others(221): Show c.717-2435_717-2434insCGGGTGAGGGTGCTGGTGGAGCGGGTGA GGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGCGGGTGCGGGTGCAGGTG AGGGTGCTGATGGAGCGGGCGAGGGTGAGGGTGAGGGTGCTGATGGAGCG GGTGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGCGGGTGCGGGTGC AGGTGAGGGTGCTGATGGAGCGGGCG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LINGO2_chr9_27932617_29218601	28189533	G G	GAGGAAGG others(197): Show GAGGAAGGAAGGAAGGGAGGGAGGAAGGAAGGGAGGGAGGAAGGAAGGGA GGGAGGAAGGAAGGGAGGGAGGGAGGAAGGAAGAGAGGGAGGAAGGAAGG GAGGGAGGAAGGAAGGGAGGGAGGGAGGAAGGAAGGGAGGAAGGGAGGAA GGAAGGGAGGGAGGAAGGAAGGGAGGGAGGGAGGAAGGAAGGGAGGGAGG AAGGA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp2 HG01074.hp1 others(3): Show HG00408.hp2 HG00438.hp2 HG01074.hp1 HG01261.hp2 HG02602.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0029 a0001c0001t0030 others(1): Show a0001c0001t0001 a0001c0001t0029 a0001c0001t0030 a0001c0001t0032	a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0048 others(3): Show a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0048 a0001c0001t0029g0024 a0001c0001t0030g0026 a0001c0001t0032g0023	6	62	0.0968	204	c.-36 others(225): Show c.-36+105674_-36+105675insTCCTTCCTCCCTCCCTTCCTTCCT CCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTTCCTCCCTTC CTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCTCT TCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCC CTTCCTTCCTCCCTCCCTTCCTTCCTTCCT	LINGO2	ENSG00000174482.11	transcript	ENST00000698399.1	protein_coding	6/6			chr9	TogoVar
LMF1_chr16_848634_975984	886545	A A	ATTCCCCA others(197): Show ATTCCCCAGGCCCCTCCCACCCTAGGCCCCCGGCGTTCCCCAGGCCCCTC CCACCCTAGGCCCCCGGCGTTCCCCAGGCCCCTCCCACCCTAGGCCCCCG GCGTTCCCCAGGCCCCTCCCACCCTAGGCCCCCGGCGTTCCCCAGGCCCC TCCCACCCTAGGCCCCCGGCGTTCCCCAGGCCCCTCCCACCCTAGGCCCC CGGCG	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0142 a0002c0007t0001g0142	1	294	0.0034	204	c.729 others(221): Show c.729+6258_729+6461dupCGCCGGGGGCCTAGGGTGGGAGGGGCCT GGGGAACGCCGGGGGCCTAGGGTGGGAGGGGCCTGGGGAACGCCGGGGGC CTAGGGTGGGAGGGGCCTGGGGAACGCCGGGGGCCTAGGGTGGGAGGGGC CTGGGGAACGCCGGGGGCCTAGGGTGGGAGGGGCCTGGGGAACGCCGGGG GCCTAGGGTGGGAGGGGCCTGGGGAA	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	5/10			chr16	TogoVar
LMLN_chr3_197955217_198048720	198004150	T T	TATCTATA others(197): Show TATCTATATATCATCTATACAGATACATATCATACGTAGTAAGTTTGACA TCTATCTATATATCATCTATACAGATACATATCATACGTAGTAAGTTTGA CATCTATCTATATATCATCTATACAGATACATATCATACGTAGTAAGTTT GACATCTATCTATATATCATCTATACAGATACATATCATACGTAGTAAGT TTGAC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0016 a0002c0002t0016	a0002c0002t0016g0007 a0002c0002t0016g0007	1	258	0.0039	204	c.131 others(223): Show c.1319+1071_1319+1072insACATCTATCTATATATCATCTATACA GATACATATCATACGTAGTAAGTTTGACATCTATCTATATATCATCTATA CAGATACATATCATACGTAGTAAGTTTGACATCTATCTATATATCATCTA TACAGATACATATCATACGTAGTAAGTTTGACATCTATATATCATCTATA CAGATACATATCATACGTAGTAAGTTTG	LMLN	ENSG00000185621.11	transcript	ENST00000420910.7	protein_coding	12/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
LMLN_chr3_197955217_198048720	198004666	T T	TATCTATA others(197): Show TATCTATATATCATCTATACAGATACATATCATACGTAGTAAGTTTGACA TCTATCTATATATCATCTATACAGATACATATCATACGTAGTAAGTTTGA CATCTATCTATATATCATCTATACAGATACATATCATACGTAGTAAGTTT GACATCTATCTATATATCATCTATACAGATACATATCATACGTAGTAAGT TTGAC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0054 a0001c0001t0023g0054	1	258	0.0039	204	c.131 others(223): Show c.1319+1548_1319+1751dupATATCATCTATACAGATACATATCAT ACGTAGTAAGTTTGACATCTATCTATATATCATCTATACAGATACATATC ATACGTAGTAAGTTTGACATCTATCTATATATCATCTATACAGATACATA TCATACGTAGTAAGTTTGACATCTATCTATATATCATCTATACAGATACA TATCATACGTAGTAAGTTTGACATCTAT	LMLN	ENSG00000185621.11	transcript	ENST00000420910.7	protein_coding	12/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
LMLN_chr3_197955217_198048720	198004718	T T	TATCTATA others(197): Show TATCTATATATCATCTATACAGATACATATCATACGTAGTAAGTTTGCCA TCTATCTATATATCATCTATACAGATACATATCATACGTAGTAAGTTTGC CATCTATCTATATATCATCTATACAGATACATATCATACGTAGTAAGTTT GCCATCTATCTATATATCATCTATACAGATACATATCATACGTAGTAAGT TTGAC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	258	0.0039	204	c.131 others(223): Show c.1319+1639_1319+1640insCCATCTATCTATATATCATCTATACA GATACATATCATACGTAGTAAGTTTGCCATCTATCTATATATCATCTATA CAGATACATATCATACGTAGTAAGTTTGCCATCTATCTATATATCATCTA TACAGATACATATCATACGTAGTAAGTTTGACATCTATATATCATCTATA CAGATACATATCATACGTAGTAAGTTTG	LMLN	ENSG00000185621.11	transcript	ENST00000420910.7	protein_coding	12/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
LOC102723971_chr9_135609183_135624893	135620041	C C	CCCCTTCT others(197): Show CCCCTTCTCCCCCTACTCCCCCTTCTCCCCCGTCTCCCCTGTCTGCCCAG TCTCCCCCATCTCCCCCTACTCCCCCTTCTCCCCCTACTCCTTCTCCCCC TTCTCCCCCTTCCCCCTCTACTCCCCCTTCTCCCCCTTTTCCCCCTACTC CCCCGTCTCCCCCATCTCCCCCGTCTCTCCCGTCTCCCCCATCTCCCCCT TCTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0002 a0002c0002t0003g0002	1	450	0.0022	204	c.10 others(215): Show c.1089_*1090insCCCTTCTCCCCCTACTCCCCCTTCTCCCCCGTCT CCCCTGTCTGCCCAGTCTCCCCCATCTCCCCCTACTCCCCCTTCTCCCCC TACTCCTTCTCCCCCTTCTCCCCCTTCCCCCTCTACTCCCCCTTCTCCCC CTTTTCCCCCTACTCCCCCGTCTCCCCCATCTCCCCCGTCTCTCCCGTCT CCCCCATCTCCCCCTTCTCA	LOC102723971	ENSG00000236543.3	transcript	ENST00000430816.3	protein_coding		149		chr9	TogoVar
LOC122319696_chrX_149409877_149420506	149418487	A A	ATATATAT others(197): Show ATATATATATATCATATATATAATATATATTATATTATATATATATCATA TATATAATATATATTATATTATATATATATCATATATATAATATATATTA TATTATATATATATCATATATATAATATATATTATATTATATATATATCA TATATATAATATATATTATATTATATATATATCATATATATAATATATAT TATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG01515.hp1 HG01517.hp1 HG00280.hp1 HG01515.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	313	0.0096	204	c.-30 others(215): Show c.-3011_-3010insATATAATATATATTATATATATGATATATATATA ATATAATATATATTATATATATGATATATATATAATATAATATATATTAT ATATATGATATATATATAATATAATATATATTATATATATGATATATATA TAATATAATATATATTATATATATGATATATATATAATATAATATATATT ATATATATGATATATATATA	LOC122319696	ENSG00000287585.2	transcript	ENST00000653668.2	protein_coding		2982		chrX	TogoVar
LRRC23_chr12_6899822_6919229	6909111	T T	TATATAAT others(197): Show TATATAATATATAATATATAATATATATTTATTAATAATATATATAATAT ATTTATTTATTTATATATATATATTATTATATATATATAAATATATATAT TTATTAATATATATATAAATATATATATTTATTAATAATATATATAATAT ATATATTTATTAATATATATATAAATATATATATTTATTAATAATATATA TAATA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02572.hp1 NA19240.hp2 HG02258.hp2 HG02572.hp1 NA19240.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0019 a0002c0002t0003g0019	3	316	0.0095	204	c.622 others(219): Show c.622-779_622-778insATATAATATATAATATATAATATATATTTA TTAATAATATATATAATATATTTATTTATTTATATATATATATTATTATA TATATATAAATATATATATTTATTAATATATATATAAATATATATATTTA TTAATAATATATATAATATATATATTTATTAATATATATATAAATATATA TATTTATTAATAATATATATAATA	LRRC23	ENSG00000010626.15	transcript	ENST00000443597.7	protein_coding	5/7			chr12	TogoVar
LRRC74A_chr14_76821408_76875304	76867164	G G	GGTGTGTG others(197): Show GGTGTGTGTGTTGGGGGTGGGGTGTGTGTGTGTGTGGTAGTGTGTGTGGG TGTGTGTGTGTGTTGGGGGGTGGGGTGTGTGTGTGTGTGGTAGTGTGTGT GGGGTGTGTGGGTGTGTTGGGGGGTGGGGTGTGTGTGTGGGGGGGGTGTG TTGGGGGATGGGGTGTGTGTGTGGTAGTGTGGGGGGGTGTGTGTTTTGGG GGGGT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0307 a0001c0004t0001g0307	1	408	0.0025	204	c.130 others(221): Show c.1309-185_1309-184insTGTTGGGGGTGGGGTGTGTGTGTGTGTG GTAGTGTGTGTGGGTGTGTGTGTGTGTTGGGGGGTGGGGTGTGTGTGTGT GTGGTAGTGTGTGTGGGGTGTGTGGGTGTGTTGGGGGGTGGGGTGTGTGT GTGGGGGGGGTGTGTTGGGGGATGGGGTGTGTGTGTGGTAGTGTGGGGGG GTGTGTGTTTTGGGGGGGTGTGTGTG	LRRC74A	ENSG00000100565.16	transcript	ENST00000689127.1	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
LRRK1_chr15_100914357_101083257	100941414	G G	GTGCCTGT others(197): Show GTGCCTGTATCTGTGTGCGTCTGTGTCTCTGTGTGTGTCTGTGTGTGTGT GTCTGTGTCTCTGTGTGTGTCTGTGTGTCTGTGTGTGTCTGTGTCTCTGT GTGTGTCTGTGTGTGTCTCTGTGTGTGTGTGTGTCTGTGTCTCTGTGTGT GTCTTTGTGTGTGTGTGTGCCTGTATCTGTGTGCGTCTGTGTCTCTGTGT GTGTC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0261 a0001c0007t0261	a0001c0007t0261g0103 a0001c0007t0261g0103	1	338	0.0030	204	c.97+ others(221): Show c.97+16687_97+16688insCCTGTATCTGTGTGCGTCTGTGTCTCTG TGTGTGTCTGTGTGTGTGTGTCTGTGTCTCTGTGTGTGTCTGTGTGTCTG TGTGTGTCTGTGTCTCTGTGTGTGTCTGTGTGTGTCTCTGTGTGTGTGTG TGTCTGTGTCTCTGTGTGTGTCTTTGTGTGTGTGTGTGCCTGTATCTGTG TGCGTCTGTGTCTCTGTGTGTGTCTG	LRRK1	ENSG00000154237.13	transcript	ENST00000388948.8	protein_coding	2/33		INFO_REALIGN_3_PRIME	chr15	TogoVar
LTBP2_chr14_74493183_74617237	74564089	A A	ATATATAT others(197): Show ATATATATATATATATATTTATATATATATTTATATATATATTTATATAT ATTTATATATATTTATATATATTTATATATATTTATATATATATTTATAT ATATTTATATATATTTATATATATATTTATATATATTTATATATATTTAT ATATATATTTATATATATATTTATATATATTTATATATATATTTATATAT ATATT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0007 a0002c0015t0007	a0002c0015t0007g0117 a0002c0015t0007g0117	1	282	0.0036	204	c.831 others(221): Show c.831-8397_831-8396insAATATATATATAAATATATATATAAATA TATATAAATATATATATAAATATATATATAAATATATATAAATATATATA AATATATATATAAATATATATAAATATATATAAATATATATATAAATATA TATAAATATATATAAATATATATAAATATATATAAATATATATATAAATA TATATATAAATATATATATATATATA	LTBP2	ENSG00000119681.12	transcript	ENST00000261978.9	protein_coding	3/35			chr14	TogoVar
LUZP2_chr11_24492053_25087638	25044079	A A	ATATATAT others(197): Show ATATATATAGTCTATATATATCTGATATATATATAGTCTATATATATCTG ATAAGACTATATATATATCTGATATATATATAGACTCTATATATCAGATA TATAGACTCTATATATATCAGATATATATATAGAGTCTATATATATCTCT GATATATAGAGTCTATATATATCTCTGATATATAGAGTCTATATATCTGA TATAT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0110 a0001c0001t0037g0110	1	116	0.0086	204	c.766 others(221): Show c.766-5959_766-5958insTATATATAGTCTATATATATCTGATATA TATATAGTCTATATATATCTGATAAGACTATATATATATCTGATATATAT ATAGACTCTATATATCAGATATATAGACTCTATATATATCAGATATATAT ATAGAGTCTATATATATCTCTGATATATAGAGTCTATATATATCTCTGAT ATATAGAGTCTATATATCTGATATAT	LUZP2	ENSG00000187398.12	transcript	ENST00000336930.11	protein_coding	9/11			chr11	TogoVar
LYAR_chr4_4262701_4295154	4263813	A A	ACTAACTT others(197): Show ACTAACTTTCTTTCTTTCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCT TTCCTTTCTTTCCTTTCTTTCCTTTCCTTTCTTTCCTTTCTTTCCTTTCT TTCCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCTTTCCT TTCTTTCCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCTT TCTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	436	0.0023	204	c.40 others(215): Show c.4075_*4076insAAAGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAA GAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAG GAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAG GAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAG AAAGAAAGAAAGAAAGTTAG	LYAR	ENSG00000145220.14	transcript	ENST00000343470.9	protein_coding		3887		chr4	TogoVar
MAD1L1_chr7_1810795_2237945	1870475	G G	GCCTGCCA others(197): Show GCCTGCCACGCTGAACCCACCGTAACACCTGCCACGCTGAACCCAACATA TGCCTGCCACGCTGAACCCAACATATGCCTGCCACGCTGAACCCACCGTA ACACCTGCCACACTGAACCCAACATACACCTGCCACACTGAACCCACCGT AACACCTGCCACGCTGAACCCAACATATGCCTGCCACGCTGAACCGACCA TAACA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0004 a0001c0007t0004	a0001c0007t0004g0079 a0001c0007t0004g0079	1	264	0.0038	204	c.199 others(225): Show c.1998+27724_1998+27725insTGTTATGGTCGGTTCAGCGTGGCA GGCATATGTTGGGTTCAGCGTGGCAGGTGTTACGGTGGGTTCAGTGTGGC AGGTGTATGTTGGGTTCAGTGTGGCAGGTGTTACGGTGGGTTCAGCGTGG CAGGCATATGTTGGGTTCAGCGTGGCAGGCATATGTTGGGTTCAGCGTGG CAGGTGTTACGGTGGGTTCAGCGTGGCAGG	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	18/18			chr7	TogoVar
MAEA_chr4_1284891_1345137	1298329	T T	TGCCGTCT others(197): Show TGCCGTCTTCTGGTTATCCACGAAGAGGCACACGCGCCGTCTTCTGGTTA TCCACGAAGAGGCACACGCGCCGTCTTCTGGTTATCCACGAAGAGGCACA CGCGCCGTCTTCTGGTTATCCACGAAGAGGCACACGCGCCGTCTTCTGGT TATCCACGAAGAGGCACACGCGCCGTCTTCTGGTTATCCACGAAGAGGCA CACGC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0291 a0001c0003t0001g0291	1	388	0.0026	204	c.69+ others(219): Show c.69+8464_69+8465insTCCACGAAGAGGCACACGCGCCGTCTTCTG GTTATCCACGAAGAGGCACACGCGCCGTCTTCTGGTTATCCACGAAGAGG CACACGCGCCGTCTTCTGGTTATCCACGAAGAGGCACACGCGCCGTCTTC TGGTTATCCACGAAGAGGCACACGCGCCGTCTTCTGGTTATCCACGAAGA GGCACACGCGCCGTCTTCTGGTTA	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAGEF1_chr3_184705364_184717064	184712991	G G	GCCTTCCT others(197): Show GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTC CTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG01255.hp1 NA18994.hp1 others(2): Show HG00280.hp2 HG01255.hp1 NA18994.hp1 NA19063.hp1 NA19080.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0000 a0005c0005t0002g0000	5	456	0.0110	204	c.-11 others(215): Show c.-1171_-1170insAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGG	MAGEF1	ENSG00000177383.5	transcript	ENST00000317897.5	protein_coding		928		chr3	TogoVar
MAGI3_chr1_113385515_113690923	113416469	T T	TTAATTTT others(197): Show TTAATTTTATATATTAATTCTATATAGTTAATTATATATTAATTACAGTT AATATATATTAATATATAACTATATATTAATTATATATATTAATATATAT TAATATATATATTAATTATATATATTAATATATATTAATTATATATATTA ATTATATATATTAATATATATTAATTATATATATTAATTATATATATTTA TATAG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00642.hp2 HG01070.hp2 others(35): Show HG00423.hp1 HG00642.hp2 HG01070.hp2 HG01099.hp2 HG01109.hp2 HG01192.hp2 HG01516.hp1 HG01517.hp1 HG02071.hp2 HG02129.hp2 HG02300.hp1 HG02683.hp2 HG03490.hp2 HG03834.hp2 HG04204.hp2 NA18940.hp2 NA18944.hp2 NA18947.hp2 NA18948.hp1 NA18957.hp2 NA18962.hp2 NA18965.hp2 NA18967.hp1 NA18971.hp1 NA18978.hp2 NA18983.hp1 NA18994.hp1 NA18995.hp1 NA19004.hp1 NA19006.hp2 NA19011.hp2 NA19054.hp2 NA19056.hp1 NA19058.hp1 NA19060.hp1 NA19064.hp1 NA19080.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0015 a0001c0002t0002	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0018 others(35): Show a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0018 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0002g0006 a0001c0001t0002g0016 a0001c0001t0002g0033 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0004g0002 a0001c0001t0004g0003 a0001c0001t0004g0004 a0001c0001t0004g0005 a0001c0001t0004g0009 a0001c0001t0004g0011 a0001c0001t0004g0012 a0001c0001t0004g0013 a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0017 a0001c0001t0004g0019 a0001c0001t0004g0022 a0001c0001t0004g0023 a0001c0001t0004g0025 a0001c0001t0004g0028 a0001c0001t0004g0030 a0001c0001t0004g0034 a0001c0001t0004g0035 a0001c0001t0004g0036 a0001c0001t0004g0040 a0001c0001t0004g0041 a0001c0001t0004g0046 a0001c0001t0004g0047 a0001c0001t0015g0026 a0001c0002t0002g0020 a0001c0002t0002g0021	38	236	0.1610	204	c.316 others(223): Show c.316+25121_316+25122insAATTTTATATATTAATTCTATATAGT TAATTATATATTAATTACAGTTAATATATATTAATATATAACTATATATT AATTATATATATTAATATATATTAATATATATATTAATTATATATATTAA TATATATTAATTATATATATTAATTATATATATTAATATATATTAATTAT ATATATTAATTATATATATTTATATAGT	MAGI3	ENSG00000081026.19	transcript	ENST00000307546.14	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
MBNL3_chrX_132364320_132494038	132396741	T T	TATTCATA others(197): Show TATTCATATATATTCATATATATATTCATATATATTCATATATATTCATA TATATATTCATATATATATTCATATATACATATATATATTCATATATATA TTCATATATACATATATATTCATATATATATTCATATATACATATATATA TTCATATATATATTCATATATACATATATATATTCATATATATATTCATA TATAC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0002 a0001c0001t0043g0002	1	191	0.0052	204	c.343 others(221): Show c.343-4408_343-4407insGTATATATGAATATATATATGAATATAT ATATGTATATATGAATATATATATGAATATATATATGTATATATGAATAT ATATATGAATATATATGTATATATGAATATATATATGAATATATATATGT ATATATGAATATATATATGAATATATATATGAATATATATGAATATATAT GAATATATATATGAATATATATGAAT	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MBOAT7_chr19_54168415_54194580	54181993	G G	GGGAGGGA others(197): Show GGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAAGGAAGGAGGGAAGGAAG GAGGGAAGGAAGGAGGGAGGGAAGGAAGGAGGGAGGGAAGGAAGGAGGGA GGGAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAAGGAGGGAAGGAAG GAGGGAGGGAAGGAAGGAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGA AGGAA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0081 a0001c0001t0002g0081	1	373	0.0027	204	c.494 others(219): Show c.494-861_494-860insTTCCTTCCCTCCCTCCTTCCTTCCCTCCTT CCCTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCCTCCCTCC TTCCTTCCCTCCTTCCCTCCCTCCCTCCCTCCTTCCTTCCCTCCCTCCTT CCTTCCCTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCC CTCCTTCCTTCCCTCCTTCCCTCC	MBOAT7	ENSG00000125505.17	transcript	ENST00000245615.6	protein_coding	5/7			chr19	TogoVar
MDM2_chr12_68803177_68850544	68833280	A A	AATATATA others(197): Show AATATATATATTTATATAAATATAAAAATATATTTATATAAATATATATA TTTATATAAATATAAAAATATATTTATATAAATATATATATTTATATAAA TATAAAAATATATTTATATAAATATATATATTTATATAAATATATATATT TATATAAATATATATATTTATATAAATATATATATTTATATAAATATATA TATTT	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0251 a0001c0001t0001g0251	1	388	0.0026	204	c.685 others(221): Show c.685-2544_685-2543insTATATTTATATAAATATAAAAATATATT TATATAAATATATATATTTATATAAATATAAAAATATATTTATATAAATA TATATATTTATATAAATATAAAAATATATTTATATAAATATATATATTTA TATAAATATATATATTTATATAAATATATATATTTATATAAATATATATA TTTATATAAATATATATATTTATATA	MDM2	ENSG00000135679.27	transcript	ENST00000258149.11	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
METRNL_chr17_83074609_83100122	83090485	A A	ACCCCCGC others(197): Show ACCCCCGCCCCACACACACACACCCCCGCCCCGCCCCAGGGTGGGAGCCA CACACCCCCGCCCTGCCCCAGGGTGGGAGCCACACACACCCCCGCCCCAC ACACACACACCCCCGCCCCCCGCCCCAGGGTGGGAGCCACACACACACCC CCCACCCCCCGCCCCAGGGTGGGAGCCACACACACACCCCGCCCCACACA CACAC	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0305 a0001c0001t0002g0305	1	399	0.0025	204	c.557 others(221): Show c.557-2651_557-2650insGCCCCAGGGTGGGAGCCACACACCCCCG CCCTGCCCCAGGGTGGGAGCCACACACACCCCCGCCCCACACACACACAC CCCCGCCCCCCGCCCCAGGGTGGGAGCCACACACACACCCCCCACCCCCC GCCCCAGGGTGGGAGCCACACACACACCCCGCCCCACACACACACCCCCC GCCCCACACACACACACCCCCGCCCC	METRNL	ENSG00000176845.13	transcript	ENST00000320095.12	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
MGAT4C_chr12_85950667_86261391	86110302	A A	ATATAGTC others(197): Show ATATAGTCTATATATATATATAGTCTATATATATATAGACTATATATATA TATAGACTATATATATAGTCTATATATATAGTCTATATATATATATAGTC TATATATATATAGTCTATATATATATATAGTCTATATATATAGTCTATAT ATATATAGTCTATATATATATAGTCTATATATATATAGTCTATATATATA TAGTC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0092 a0001c0001t0058g0092	1	186	0.0054	204	c.-56 others(223): Show c.-56-60580_-56-60579insGACTATATATATATAGACTATATATA TATAGACTATATATATATAGACTATATATATATAGACTATATATATAGAC TATATATATATATAGACTATATATATATAGACTATATATATATATAGACT ATATATATAGACTATATATATAGTCTATATATATATATAGTCTATATATA TATAGACTATATATATATATAGACTATA	MGAT4C	ENSG00000182050.14	transcript	ENST00000611864.5	protein_coding	1/4			chr12	TogoVar
MGAT4C_chr12_85950667_86261391	86110302	A A	ATATAGTC others(197): Show ATATAGTCTATATATATATATAGTCTATATATATATAGACTATATATATA TATAGACTATATATATAGTCTATATATATATAGTCTATATATATATAGTC TATATATATATAGTCTATATATATATATAGTCTATATATATAGTCTATAT ATATATAGTCTATATATATATAGACTATATATATATAGTCTATATATATA TAGTC	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0089 a0001c0001t0044g0089	1	186	0.0054	204	c.-56 others(223): Show c.-56-60580_-56-60579insGACTATATATATATAGACTATATATA TATAGTCTATATATATATAGACTATATATATATAGACTATATATATAGAC TATATATATATATAGACTATATATATATAGACTATATATATATAGACTAT ATATATATAGACTATATATATAGTCTATATATATATATAGTCTATATATA TATAGACTATATATATATATAGACTATA	MGAT4C	ENSG00000182050.14	transcript	ENST00000611864.5	protein_coding	1/4			chr12	TogoVar

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