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
MDFIC_chr7_114917094_115024917	115007630	G G	GTGTGTAT others(27): Show GTGTGTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0054 a0001c0001t0022g0054	1	334	0.0030	34	c.494 others(51): Show c.494-8057_494-8056insGTGTATATATATATATATATATATATAT ATATAT	MDFIC	ENSG00000135272.13	transcript	ENST00000393486.6	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr7	TogoVar
MDFI_chr6_41633468_41659244	41656188	A A	ACACACAC others(27): Show ACACACACACACACACACACACACACACACACACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp2 HG02129.hp2 NA18948.hp2 HG02074.hp2 HG02129.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0015 a0001c0001t0004 a0001c0001t0015	a0001c0001t0004g0192 a0001c0001t0004g0283 a0001c0001t0015g0114 a0001c0001t0004g0192 a0001c0001t0004g0283 a0001c0001t0015g0114	3	462	0.0065	34	c.26 others(45): Show c.2613_*2614insCACACACACACACACACACACACACACACACACT	MDFI	ENSG00000112559.15	transcript	ENST00000230321.11	protein_coding		1945		chr6	TogoVar
MDFI_chr6_41633468_41659244	41656190	A A	ACACACAC others(27): Show ACACACACACACACACACACACACACACACACACT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18612.hp2 NA18994.hp1 NA18612.hp2 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0060 a0001c0001t0001g0010 a0001c0001t0001g0060	2	462	0.0043	34	c.26 others(45): Show c.2615_*2616insCACACACACACACACACACACACACACACACACT	MDFI	ENSG00000112559.15	transcript	ENST00000230321.11	protein_coding		1947		chr6	TogoVar
MDFI_chr6_41633468_41659244	41656198	A A	ACACACAC others(27): Show ACACACACACACACACACACACACACACACACACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	462	0.0022	34	c.26 others(45): Show c.2623_*2624insCACACACACACACACACACACACACACACACACT	MDFI	ENSG00000112559.15	transcript	ENST00000230321.11	protein_coding		1955		chr6	TogoVar
MDGA2_chr14_46835092_47680605	47013772	G G	GTATATAT others(27): Show GTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0054 a0001c0001t0027g0054	1	120	0.0083	34	c.181 others(55): Show c.1819+21238_1819+21239insTATATATATATATATATATATATA TATATATATA	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	8/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	47335745	T T	TATATATA others(27): Show TATATATATATATATATATATATATACACACATAC	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0005 a0002c0010t0005	a0002c0010t0005g0119 a0002c0010t0005g0119	1	120	0.0083	34	c.281 others(53): Show c.281-34196_281-34195insGTATGTGTGTATATATATATATATAT ATATATAT	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	1/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	47335745	T T	TATATATA others(27): Show TATATATATATATATATATATATATACATACATAC	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	120	0.0083	34	c.281 others(53): Show c.281-34196_281-34195insGTATGTATGTATATATATATATATAT ATATATAT	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	1/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	47335745	T T	TATATATA others(27): Show TATATATATATATATATATATATATATACACATAC	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0053 a0002c0002t0001g0053	1	120	0.0083	34	c.281 others(53): Show c.281-34196_281-34195insGTATGTGTATATATATATATATATAT ATATATAT	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	1/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	47335747	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02257.hp1 HG02559.hp1 others(4): Show HG01261.hp1 HG02257.hp1 HG02559.hp1 HG02615.hp1 HG02895.hp1 NA18966.hp1 NA20129.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0002c0002 a0004c0003 others(1): Show a0001c0001 a0002c0002 a0004c0003 a0005c0007	a0001c0001t0002 a0001c0001t0007 a0001c0001t0012 others(4): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0012 a0001c0001t0029 a0002c0002t0005 a0004c0003t0003 a0005c0007t0004	a0001c0001t0002g0083 a0001c0001t0007g0004 a0001c0001t0012g0017 others(4): Show a0001c0001t0002g0083 a0001c0001t0007g0004 a0001c0001t0012g0017 a0001c0001t0029g0120 a0002c0002t0005g0074 a0004c0003t0003g0034 a0005c0007t0004g0009	7	120	0.0583	34	c.281 others(53): Show c.281-34198_281-34197insGTGTATATATATATATATATATATAT ATATATAT	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	1/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	47540540	G G	GTGTGTGT others(27): Show GTGTGTGTGTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG04115.hp1 HG01261.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0083 a0001c0001t0006g0082 a0001c0001t0002g0083 a0001c0001t0006g0082	2	120	0.0167	34	c.280 others(55): Show c.280+133976_280+133977insTATATATATATATATATATATATA CACACACACA	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	1/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	47540540	G G	GTGTGTGT others(27): Show GTGTGTGTGTGTGTGTGTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0075 a0001c0001t0002g0075	1	120	0.0083	34	c.280 others(55): Show c.280+133976_280+133977insTATATATATATATATACACACACA CACACACACA	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	1/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	47609428	C C	CATATATA others(27): Show CATATATATATATATACATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02135.hp2 HG01081.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0007 a0001c0005t0007 a0001c0001t0007 a0001c0005t0007	a0001c0001t0007g0023 a0001c0005t0007g0024 a0001c0001t0007g0023 a0001c0005t0007g0024	2	120	0.0167	34	c.280 others(53): Show c.280+65088_280+65089insATATATATATATATATATGTATATAT ATATATAT	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	1/16			chr14	TogoVar
MDM2_chr12_68803177_68850544	68847196	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp2 HG02895.hp2 HG02896.hp1 others(12): Show HG01515.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03453.hp2 HG03490.hp2 NA18947.hp1 NA18963.hp1 NA18982.hp2 NA19006.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0009 a0001c0001t0021 others(7): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0021 a0001c0001t0026 a0001c0001t0028 a0001c0001t0037 a0001c0001t0079 a0001c0002t0006 a0001c0002t0008 a0001c0002t0056	a0001c0001t0001g0002 a0001c0001t0001g0268 a0001c0001t0001g0279 others(12): Show a0001c0001t0001g0002 a0001c0001t0001g0268 a0001c0001t0001g0279 a0001c0001t0009g0142 a0001c0001t0009g0143 a0001c0001t0021g0028 a0001c0001t0026g0138 a0001c0001t0028g0167 a0001c0001t0028g0170 a0001c0001t0037g0288 a0001c0001t0079g0310 a0001c0002t0006g0175 a0001c0002t0008g0165 a0001c0002t0008g0187 a0001c0002t0056g0031	15	388	0.0387	34	c.73 others(45): Show c.7347_*7348insTATATATATATATATATATATATATATATATATA	MDM2	ENSG00000135679.27	transcript	ENST00000258149.11	protein_coding		1653		chr12	TogoVar
MDM2_chr12_68803177_68850544	68847210	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0159 a0001c0001t0015g0159	1	388	0.0026	34	c.73 others(45): Show c.7361_*7362insTATATATATATATATATATATATATATATATATG	MDM2	ENSG00000135679.27	transcript	ENST00000258149.11	protein_coding		1667		chr12	TogoVar
MDN1_chr6_89637498_89824794	89670170	A A	ATATATAT others(27): Show ATATATATATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	290	0.0035	34	c.139 others(53): Show c.13956+748_13956+749insAAAAAAAAAAAAAATATATATATATA TATATATA	MDN1	ENSG00000112159.13	transcript	ENST00000369393.8	protein_coding	83/101			chr6	TogoVar
MDN1_chr6_89637498_89824794	89670170	A A	ATATATAT others(27): Show ATATATATATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	290	0.0035	34	c.139 others(53): Show c.13956+748_13956+749insAAAAAAAAAAAAAAAATATATATATA TATATATA	MDN1	ENSG00000112159.13	transcript	ENST00000369393.8	protein_coding	83/101			chr6	TogoVar
ME1_chr6_83205402_83436051	83357935	C C	CTCTCTCT others(27): Show CTCTCTCTCTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	272	0.0037	34	c.363 others(51): Show c.363-5797_363-5796insTATATATATATATATATATATATATAGA GAGAGA	ME1	ENSG00000065833.9	transcript	ENST00000369705.4	protein_coding	3/13			chr6	TogoVar
ME1_chr6_83205402_83436051	83357935	C C	CTCTCTCT others(27): Show CTCTCTCTCTCTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02074.hp2 HG00621.hp1 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0192 a0001c0001t0001g0194	2	272	0.0074	34	c.363 others(51): Show c.363-5797_363-5796insTATATATATATATATATATATATAGAGA GAGAGA	ME1	ENSG00000065833.9	transcript	ENST00000369705.4	protein_coding	3/13			chr6	TogoVar
ME1_chr6_83205402_83436051	83357935	C C	CTCTCTCT others(27): Show CTCTCTCTCTCTCTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	272	0.0037	34	c.363 others(51): Show c.363-5797_363-5796insTATATATATATATATATATATAGAGAGA GAGAGA	ME1	ENSG00000065833.9	transcript	ENST00000369705.4	protein_coding	3/13			chr6	TogoVar
ME1_chr6_83205402_83436051	83357935	C C	CTCTCTCT others(27): Show CTCTCTCTCTCTCTCTCTCTCTATATATATATATA	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG03017.hp2 HG01934.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0005 a0001c0001t0001 a0001c0002t0005	a0001c0001t0001g0065 a0001c0002t0005g0218 a0001c0001t0001g0065 a0001c0002t0005g0218	2	272	0.0074	34	c.363 others(51): Show c.363-5797_363-5796insTATATATATATATAGAGAGAGAGAGAGA GAGAGA	ME1	ENSG00000065833.9	transcript	ENST00000369705.4	protein_coding	3/13			chr6	TogoVar
ME1_chr6_83205402_83436051	83357935	C C	CTCTCTCT others(27): Show CTCTCTCTCTCTCTCTCTCTCTCTATATATATATA	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0217 a0001c0002t0011g0217	1	272	0.0037	34	c.363 others(51): Show c.363-5797_363-5796insTATATATATATAGAGAGAGAGAGAGAGA GAGAGA	ME1	ENSG00000065833.9	transcript	ENST00000369705.4	protein_coding	3/13			chr6	TogoVar
ME1_chr6_83205402_83436051	83357935	C C	CTCTCTCT others(27): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTA	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0005	a0002c0004t0005g0221 a0002c0004t0005g0221	1	272	0.0037	34	c.363 others(51): Show c.363-5797_363-5796insTAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGA	ME1	ENSG00000065833.9	transcript	ENST00000369705.4	protein_coding	3/13			chr6	TogoVar
ME3_chr11_86436108_86677616	86475874	T T	TATAGAGA others(27): Show TATAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0287 a0001c0002t0002g0287	1	320	0.0031	34	c.810 others(53): Show c.810-10675_810-10674insCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTAT	ME3	ENSG00000151376.19	transcript	ENST00000543262.6	protein_coding	7/14			chr11	TogoVar
ME3_chr11_86436108_86677616	86475874	T T	TATATATA others(27): Show TATATATATAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0286 a0001c0001t0002g0286	1	320	0.0031	34	c.810 others(53): Show c.810-10675_810-10674insCTCTCTCTCTCTCTCTCTCTCTCTCT ATATATAT	ME3	ENSG00000151376.19	transcript	ENST00000543262.6	protein_coding	7/14			chr11	TogoVar
ME3_chr11_86436108_86677616	86560746	G G	GTATGTGT others(27): Show GTATGTGTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0010 a0002c0007t0001g0010	1	320	0.0031	34	c.184 others(49): Show c.184-924_184-923insTATATATATATATATATATATATATATACA CATA	ME3	ENSG00000151376.19	transcript	ENST00000543262.6	protein_coding	2/14			chr11	TogoVar
ME3_chr11_86436108_86677616	86560748	G G	GTGTATGT others(27): Show GTGTATGTGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01074.hp2 HG01255.hp1 others(12): Show HG00558.hp2 HG01074.hp2 HG01255.hp1 HG01255.hp2 HG03195.hp2 HG03225.hp2 HG03239.hp2 NA18951.hp2 NA18962.hp1 NA18971.hp1 NA18979.hp1 NA18986.hp2 NA19005.hp1 NA19058.hp2 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0009 a0001c0015 others(3): Show a0001c0002 a0001c0009 a0001c0015 a0001c0022 a0002c0005 a0002c0007	a0001c0002t0001 a0001c0002t0002 a0001c0009t0001 others(4): Show a0001c0002t0001 a0001c0002t0002 a0001c0009t0001 a0001c0015t0002 a0001c0022t0001 a0002c0005t0002 a0002c0007t0001	a0001c0002t0001g0012 a0001c0002t0001g0034 a0001c0002t0001g0038 others(12): Show a0001c0002t0001g0012 a0001c0002t0001g0034 a0001c0002t0001g0038 a0001c0002t0001g0040 a0001c0002t0001g0151 a0001c0002t0002g0214 a0001c0002t0002g0215 a0001c0002t0002g0235 a0001c0002t0002g0244 a0001c0002t0002g0246 a0001c0009t0001g0199 a0001c0015t0002g0227 a0001c0022t0001g0205 a0002c0005t0002g0264 a0002c0007t0001g0111	15	320	0.0469	34	c.184 others(49): Show c.184-926_184-925insTATATATATATATATATATATATATACACA TACA	ME3	ENSG00000151376.19	transcript	ENST00000543262.6	protein_coding	2/14			chr11	TogoVar
ME3_chr11_86436108_86677616	86560748	G G	GTGTATGT others(27): Show GTGTATGTGTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp2 NA19062.hp1 NA19062.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0008 a0001c0002 a0002c0008	a0001c0002t0002 a0002c0008t0001 a0001c0002t0002 a0002c0008t0001	a0001c0002t0002g0243 a0002c0008t0001g0100 a0001c0002t0002g0243 a0002c0008t0001g0100	2	320	0.0063	34	c.184 others(49): Show c.184-926_184-925insTATATATATATATATATATATATACACACA TACA	ME3	ENSG00000151376.19	transcript	ENST00000543262.6	protein_coding	2/14			chr11	TogoVar
ME3_chr11_86436108_86677616	86560770	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0022 a0001c0002t0001g0022	1	320	0.0031	34	c.184 others(49): Show c.184-948_184-947insAATATATATATATATATATATATATATATA TATA	ME3	ENSG00000151376.19	transcript	ENST00000543262.6	protein_coding	2/14			chr11	TogoVar
MECOM_chr3_169078507_169668712	169180793	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA19002.hp2 NA19060.hp2 NA18941.hp1 NA19002.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0019 a0001c0001t0002 a0001c0001t0004 a0001c0001t0019	a0001c0001t0002g0084 a0001c0001t0004g0067 a0001c0001t0019g0013 a0001c0001t0002g0084 a0001c0001t0004g0067 a0001c0001t0019g0013	3	160	0.0188	34	c.376 others(53): Show c.376-36962_376-36961insTATATATATATATATATATATATATA TATATATA	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	2/16			chr3	TogoVar
MECOM_chr3_169078507_169668712	169180794	G G	GATATATA others(27): Show GATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02486.hp2 HG02886.hp2 others(1): Show HG00438.hp2 HG02486.hp2 HG02886.hp2 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0001c0001t0001 a0001c0001t0002 a0001c0004t0001	a0001c0001t0001g0048 a0001c0001t0001g0056 a0001c0001t0002g0076 others(1): Show a0001c0001t0001g0048 a0001c0001t0001g0056 a0001c0001t0002g0076 a0001c0004t0001g0059	4	160	0.0250	34	c.376 others(53): Show c.376-36963_376-36962insATATATATATATATATATATATATAT ATATATAT	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	2/16			chr3	TogoVar
MED13L_chr12_115953576_116282693	116096354	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	254	0.0039	34	c.479 others(49): Show c.479+314_479+315insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	MED13L	ENSG00000123066.9	transcript	ENST00000281928.9	protein_coding	4/30			chr12	TogoVar
MED13L_chr12_115953576_116282693	116103049	G G	GTGCCCTA others(27): Show GTGCCCTAGTGGATACAGTCTCCTCTTGCCAAGCA	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	254	0.0039	34	c.396 others(51): Show c.396-6331_396-6298dupTGCTTGGCAAGAGGAGACTGTATCCACT AGGGCA	MED13L	ENSG00000123066.9	transcript	ENST00000281928.9	protein_coding	3/30			chr12	TogoVar
MED13L_chr12_115953576_116282693	116148051	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01943.hp2 NA18966.hp2 HG01943.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0004 a0001c0001t0005g0151 a0001c0001t0003g0004 a0001c0001t0005g0151	2	254	0.0079	34	c.311 others(53): Show c.311-36540_311-36539insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	MED13L	ENSG00000123066.9	transcript	ENST00000281928.9	protein_coding	2/30			chr12	TogoVar
MED13_chr17_61937605_62070278	62038421	G G	GCATTTTA others(27): Show GCATTTTAAAATAATTTTAAAAATTATTTTAAAAA	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp2 HG03710.hp1 others(1): Show HG03491.hp1 HG03492.hp2 HG03710.hp1 HG03831.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0294 a0001c0003t0001g0299 a0001c0003t0001g0305 others(1): Show a0001c0003t0001g0294 a0001c0003t0001g0299 a0001c0003t0001g0305 a0001c0003t0001g0306	4	326	0.0123	34	c.471 others(51): Show c.471-2847_471-2814dupTTTTTAAAATAATTTTTAAAATTATTTT AAAATG	MED13	ENSG00000108510.10	transcript	ENST00000397786.7	protein_coding	3/29			chr17	TogoVar
MED19_chr11_57698710_57717215	57702425	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	380	0.0026	34	c.16 others(45): Show c.1612_*1613insATATATATATATATATATATATATATATATATAT	MED19	ENSG00000156603.20	transcript	ENST00000431606.5	protein_coding		1284		chr11	TogoVar
MED28_chr4_17609641_17639105	17628255	C C	CGTGTGTG others(27): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02896.hp2 HG03540.hp1 HG02896.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0115 a0001c0001t0156 a0001c0001t0115 a0001c0001t0156	a0001c0001t0115g0012 a0001c0001t0156g0027 a0001c0001t0115g0012 a0001c0001t0156g0027	2	328	0.0061	34	c.44 others(45): Show c.4460_*4493dupGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	MED28	ENSG00000118579.13	transcript	ENST00000237380.12	protein_coding	4/4	4494	INFO_REALIGN_3_PRIME	chr4	TogoVar
MEF2B_chr19_19140567_19175263	19174385	A A	ATTTTTTT others(27): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0156 a0002c0004t0001g0156	1	404	0.0025	34	c.-42 others(45): Show c.-4211_-4210insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	MEF2B	ENSG00000213999.17	transcript	ENST00000424583.7	protein_coding		4123		chr19	TogoVar
MEF2C_chr5_88712117_88888184	88869300	T T	TATATATA others(27): Show TATATATATATATACATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG03834.hp1 HG01515.hp2 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0173 a0001c0001t0001g0163 a0001c0001t0001g0173	2	302	0.0066	34	c.-14 others(55): Show c.-143+13654_-143+13655insGTGTATATATATATATATATGTAT ATATATATAT	MEF2C	ENSG00000081189.17	transcript	ENST00000504921.7	protein_coding	1/10			chr5	TogoVar
MEF2C_chr5_88712117_88888184	88869300	T T	TATATATA others(27): Show TATATATATATATATACATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0164 a0001c0001t0004g0164	1	302	0.0033	34	c.-14 others(55): Show c.-143+13654_-143+13655insGTGTATATATATATATATGTATAT ATATATATAT	MEF2C	ENSG00000081189.17	transcript	ENST00000504921.7	protein_coding	1/10			chr5	TogoVar
MEGF11_chr15_65890299_66258750	65955823	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02895.hp1 HG02622.hp1 HG02895.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0012 a0002c0002t0002 a0002c0002t0012	a0002c0002t0002g0150 a0002c0002t0012g0127 a0002c0002t0002g0150 a0002c0002t0012g0127	2	176	0.0114	34	c.128 others(53): Show c.1287+1723_1287+1724insATATATATATATATATATATATATAT ATATATAT	MEGF11	ENSG00000157890.19	transcript	ENST00000395614.6	protein_coding	10/25			chr15	TogoVar
MEGF11_chr15_65890299_66258750	66039746	T T	TCTGAGCC others(27): Show TCTGAGCCGGGTCAGGCGGCGGTGGGGTGACGGTC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03139.hp2 HG02717.hp1 HG03139.hp2	a0002 a0011 a0002 a0011	a0002c0002 a0011c0011 a0002c0002 a0011c0011	a0002c0002t0001 a0011c0011t0001 a0002c0002t0001 a0011c0011t0001	a0002c0002t0001g0010 a0011c0011t0001g0051 a0002c0002t0001g0010 a0011c0011t0001g0051	2	176	0.0114	34	c.394 others(53): Show c.394+54622_394+54655dupGACCGTCACCCCACCGCCGCCTGACC CGGCTCAG	MEGF11	ENSG00000157890.19	transcript	ENST00000395614.6	protein_coding	5/25			chr15	TogoVar
MEI4_chr6_77648039_77932045	77680115	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0013 a0002c0002t0013	a0002c0002t0013g0275 a0002c0002t0013g0275	1	360	0.0028	34	c.-14 others(53): Show c.-14-10529_-14-10528insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	MEI4	ENSG00000269964.4	transcript	ENST00000684080.1	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
MEI4_chr6_77648039_77932045	77929209	G G	GGGTGTGT others(27): Show GGGTGTGTTCGATCAGTTAAGTCTGTTGATATGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0142 a0001c0001t0003g0142	1	360	0.0028	34	c.58 others(45): Show c.5863_*5864insGGTGTGTTCGATCAGTTAAGTCTGTTGATATGGT	MEI4	ENSG00000269964.4	transcript	ENST00000684080.1	protein_coding		2165		chr6	TogoVar
MEIOB_chr16_1828986_1877164	1842623	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG03130.hp2 HG03453.hp2 others(2): Show HG01123.hp2 HG03130.hp2 HG03453.hp2 HG03834.hp1 NA18986.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0006 a0001c0001 a0002c0002 a0002c0006	a0001c0001t0001 a0001c0001t0006 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0006 a0002c0002t0001 a0002c0006t0001	a0001c0001t0001g0113 a0001c0001t0001g0124 a0001c0001t0006g0133 others(2): Show a0001c0001t0001g0113 a0001c0001t0001g0124 a0001c0001t0006g0133 a0002c0002t0001g0044 a0002c0006t0001g0077	5	380	0.0132	34	c.881 others(49): Show c.881-651_881-650insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	MEIOB	ENSG00000162039.18	transcript	ENST00000325962.9	protein_coding	10/13			chr16	TogoVar
MEIOC_chr17_44651468_44680801	44652113	G G	GTGTGTGT others(27): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG02109.hp1 HG02451.hp1 others(8): Show HG01243.hp2 HG02109.hp1 HG02451.hp1 HG02622.hp1 HG02630.hp1 HG02896.hp2 HG03486.hp2 HG06807.hp2 NA18906.hp1 NA19030.hp2 NA20129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0005 a0002c0002t0001g0009 a0002c0002t0001g0025 others(2): Show a0002c0002t0001g0005 a0002c0002t0001g0009 a0002c0002t0001g0025 a0002c0002t0001g0027 a0002c0002t0001g0059	11	352	0.0313	34	c.-45 others(45): Show c.-4501_-4500insTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATACA	MEIOC	ENSG00000180336.18	transcript	ENST00000409122.7	protein_coding		4354		chr17	TogoVar
MEIOC_chr17_44651468_44680801	44652114	T T	TGTGTGTG others(27): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp1 HG02145.hp2 HG02630.hp2 others(2): Show HG01256.hp1 HG02145.hp2 HG02630.hp2 HG03579.hp2 HG03669.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0003c0003t0001 a0002c0002t0001 a0003c0003t0001	a0002c0002t0001g0015 a0002c0002t0001g0096 a0002c0002t0001g0100 others(2): Show a0002c0002t0001g0015 a0002c0002t0001g0096 a0002c0002t0001g0100 a0002c0002t0001g0120 a0003c0003t0001g0024	5	352	0.0142	34	c.-45 others(45): Show c.-4500_-4499insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATAC	MEIOC	ENSG00000180336.18	transcript	ENST00000409122.7	protein_coding		4353		chr17	TogoVar
MEIOC_chr17_44651468_44680801	44670538	C C	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 NA18968.hp2 NA18982.hp2 others(4): Show HG02615.hp2 NA18968.hp2 NA18982.hp2 NA18991.hp2 NA19000.hp2 NA19005.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0134 a0001c0001t0001g0146 others(3): Show a0001c0001t0001g0037 a0001c0001t0001g0134 a0001c0001t0001g0146 a0001c0001t0001g0160 a0001c0001t0001g0181 a0001c0001t0001g0192	7	352	0.0199	34	c.245 others(53): Show c.2457+1041_2457+1042insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	MEIOC	ENSG00000180336.18	transcript	ENST00000409122.7	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr17	TogoVar
MEIS1_chr2_66430125_66578869	66473397	A A	AAAAAAAA others(27): Show AAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0092 a0001c0001t0010g0092	1	246	0.0041	34	c.742 others(51): Show c.742+9178_742+9179insAAAAAAAATATATATATATATATATATA TATATA	MEIS1	ENSG00000143995.20	transcript	ENST00000272369.14	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
MEIS3_chr19_47398124_47424527	47420524	A A	AGAGAGAG others(27): Show AGAGAGAGAGAGACAGAGACAGACGCGGGTGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG02572.hp2 HG02622.hp2 others(4): Show HG01891.hp1 HG02572.hp2 HG02622.hp2 HG03195.hp1 HG03471.hp1 NA20129.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0008 a0001c0002t0001 a0001c0001t0002 a0001c0001t0008 a0001c0002t0001	a0001c0001t0002g0007 a0001c0001t0002g0063 a0001c0001t0002g0085 others(4): Show a0001c0001t0002g0007 a0001c0001t0002g0063 a0001c0001t0002g0085 a0001c0001t0002g0091 a0001c0001t0002g0107 a0001c0001t0008g0176 a0001c0002t0001g0144	7	251	0.0279	34	c.-14 others(45): Show c.-1444_-1443insCTCCCACCCGCGTCTGTCTCTGTCTCTCTCTCTC	MEIS3	ENSG00000105419.18	transcript	ENST00000558555.6	protein_coding		998		chr19	TogoVar
MERTK_chr2_111893607_112034561	111925275	G G	GATATATA others(27): Show GATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0044 a0003c0003t0001g0044	1	288	0.0035	34	c.62- others(49): Show c.62-3827_62-3826insATATATATATATATATATATATATATATAT ATAT	MERTK	ENSG00000153208.19	transcript	ENST00000295408.9	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr2	TogoVar

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