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	distance	chr	external
ABHD13_chr13_108213392_108239243	108218132	C C	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18950.hp1 NA18950.hp2 NA18953.hp1 NA18950.hp1 NA18950.hp2 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0001 a0001c0001t0001g0009	3	390	0.0077	0	c.-54 others(4): Show c.-548C>T	ABHD13	ENSG00000139826.6	transcript	ENST00000375898.4	protein_coding	260	chr13	TogoVar
ABHD13_chr13_108213392_108239243	108218227	G G	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG04228.hp1 HG00544.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	2	390	0.0051	0	c.-45 others(4): Show c.-453G>T	ABHD13	ENSG00000139826.6	transcript	ENST00000375898.4	protein_coding	165	chr13	TogoVar
ABHD13_chr13_108213392_108239243	108218268	A A	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00408.hp1 others(60): Show HG00140.hp1 HG00280.hp2 HG00408.hp1 HG00639.hp2 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG01070.hp1 HG01071.hp1 HG01106.hp1 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01257.hp1 HG01257.hp2 HG01358.hp1 HG01361.hp2 HG01433.hp1 HG01516.hp1 HG01891.hp2 HG01928.hp2 HG01943.hp2 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG02129.hp1 HG02132.hp1 HG02293.hp1 HG02300.hp2 HG02523.hp2 HG02630.hp2 HG02809.hp1 HG02886.hp2 HG02970.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03471.hp1 HG03486.hp2 HG03579.hp2 HG03688.hp1 HG04204.hp1 NA18960.hp2 NA18987.hp1 NA18989.hp1 NA18993.hp2 NA18998.hp2 NA19005.hp1 NA19030.hp1 NA19057.hp2 NA19070.hp2 NA19075.hp1 NA19240.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(12): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0001t0014 a0001c0001t0015 a0001c0001t0018 a0001c0001t0021 a0001c0001t0022 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0033 a0001c0001t0034	a0001c0001t0001g0013 a0001c0001t0001g0020 a0001c0001t0001g0037 others(25): Show a0001c0001t0001g0013 a0001c0001t0001g0020 a0001c0001t0001g0037 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0092 a0001c0001t0004g0006 a0001c0001t0004g0011 a0001c0001t0004g0038 a0001c0001t0004g0040 a0001c0001t0004g0041 a0001c0001t0006g0008 a0001c0001t0006g0025 a0001c0001t0006g0043 a0001c0001t0006g0044 a0001c0001t0010g0006 a0001c0001t0010g0039 a0001c0001t0014g0006 a0001c0001t0015g0024 a0001c0001t0018g0008 a0001c0001t0021g0025 a0001c0001t0022g0008 a0001c0001t0028g0034 a0001c0001t0029g0033 a0001c0001t0030g0006 a0001c0001t0031g0042 a0001c0001t0033g0091 a0001c0001t0034g0011	63	390	0.1615	0	c.-41 others(4): Show c.-412A>C	ABHD13	ENSG00000139826.6	transcript	ENST00000375898.4	protein_coding	124	chr13	TogoVar
ABHD13_chr13_108213392_108239243	108218274	G G	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01943.hp2 HG03098.hp1 HG01943.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0055 a0001c0001t0001g0056	2	390	0.0051	0	c.-40 others(4): Show c.-406G>A	ABHD13	ENSG00000139826.6	transcript	ENST00000375898.4	protein_coding	118	chr13	TogoVar
ABHD13_chr13_108213392_108239243	108218277	G G	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0010 a0001c0003t0001g0010	1	390	0.0026	0	c.-40 others(4): Show c.-403G>A	ABHD13	ENSG00000139826.6	transcript	ENST00000375898.4	protein_coding	115	chr13	TogoVar
ABHD13_chr13_108213392_108239243	108218300	G G	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0001 a0001c0001t0024g0001	1	390	0.0026	0	c.-38 others(4): Show c.-380G>A	ABHD13	ENSG00000139826.6	transcript	ENST00000375898.4	protein_coding	92	chr13	TogoVar
ABHD13_chr13_108213392_108239243	108218303	G G	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG01175.hp2 NA20752.hp1 HG00735.hp2 HG01175.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0006 a0001c0001t0010g0039 a0001c0001t0010g0006 a0001c0001t0010g0039	3	390	0.0077	0	c.-37 others(4): Show c.-377G>A	ABHD13	ENSG00000139826.6	transcript	ENST00000375898.4	protein_coding	89	chr13	TogoVar
ABHD14A_chr3_51970064_51986196	51970301	G G	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00438.hp2 HG01884.hp2 others(29): Show HG00408.hp2 HG00438.hp2 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG02135.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02723.hp2 HG02896.hp1 HG02897.hp1 HG02970.hp1 HG02976.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03209.hp1 HG03471.hp2 HG03516.hp1 HG03540.hp1 HG03669.hp1 NA18522.hp2 NA18906.hp1 NA19054.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp2 NA21309.hp1	a0002 a0008 a0002 a0008	a0002c0002 a0008c0007 a0002c0002 a0008c0007	a0002c0002t0001 a0002c0002t0002 a0008c0007t0001 a0002c0002t0001 a0002c0002t0002 a0008c0007t0001	a0002c0002t0001g0010 a0002c0002t0002g0006 a0002c0002t0002g0007 others(8): Show a0002c0002t0001g0010 a0002c0002t0002g0006 a0002c0002t0002g0007 a0002c0002t0002g0009 a0002c0002t0002g0014 a0002c0002t0002g0032 a0002c0002t0002g0033 a0002c0002t0002g0034 a0002c0002t0002g0035 a0002c0002t0002g0037 a0008c0007t0001g0036	32	344	0.0930	0	c.-48 others(5): Show c.-4835G>A	ABHD14A	ENSG00000248487.10	transcript	ENST00000273596.8	protein_coding	4763	chr3	TogoVar
ABHD14A_chr3_51970064_51986196	51970328	C C	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	344	0.0029	0	c.-48 others(5): Show c.-4808C>T	ABHD14A	ENSG00000248487.10	transcript	ENST00000273596.8	protein_coding	4736	chr3	TogoVar
ABHD14A_chr3_51970064_51986196	51970659	G G	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG02622.hp1 HG02717.hp2 others(6): Show HG01243.hp1 HG02622.hp1 HG02717.hp2 HG02970.hp2 HG03041.hp1 HG03098.hp1 HG03139.hp1 HG03453.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	9	344	0.0262	0	c.-44 others(5): Show c.-4477G>A	ABHD14A	ENSG00000248487.10	transcript	ENST00000273596.8	protein_coding	4405	chr3	TogoVar
ABHD14A_chr3_51970064_51986196	51970776	C C	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp2 HG03942.hp2 HG03688.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0001 a0001c0001t0001g0008	2	344	0.0058	0	c.-43 others(5): Show c.-4360C>T	ABHD14A	ENSG00000248487.10	transcript	ENST00000273596.8	protein_coding	4288	chr3	TogoVar
ABHD14A_chr3_51970064_51986196	51970917	C C	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG01891.hp2 HG01934.hp1 others(6): Show HG01884.hp2 HG01891.hp2 HG01934.hp1 HG02486.hp1 HG02896.hp1 HG02897.hp1 HG02976.hp1 NA18522.hp2 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0009 a0002c0002t0002g0014 a0002c0002t0002g0032 others(3): Show a0002c0002t0002g0009 a0002c0002t0002g0014 a0002c0002t0002g0032 a0002c0002t0002g0033 a0002c0002t0002g0034 a0002c0002t0002g0035	9	344	0.0262	0	c.-42 others(5): Show c.-4219C>A	ABHD14A	ENSG00000248487.10	transcript	ENST00000273596.8	protein_coding	4147	chr3	TogoVar
ABHD14A_chr3_51970064_51986196	51971082	C C	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG01891.hp2 HG02486.hp1 HG01884.hp2 HG01891.hp2 HG02486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0014 a0002c0002t0002g0014	3	344	0.0087	0	c.-40 others(5): Show c.-4054C>T	ABHD14A	ENSG00000248487.10	transcript	ENST00000273596.8	protein_coding	3982	chr3	TogoVar
ABHD14A_chr3_51970064_51986196	51971356	C C	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	344	0.0029	0	c.-37 others(5): Show c.-3780C>T	ABHD14A	ENSG00000248487.10	transcript	ENST00000273596.8	protein_coding	3708	chr3	TogoVar
ABHD14A_chr3_51970064_51986196	51971357	G G	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	344	0.0029	0	c.-37 others(5): Show c.-3779G>A	ABHD14A	ENSG00000248487.10	transcript	ENST00000273596.8	protein_coding	3707	chr3	TogoVar
ABHD14A_chr3_51970064_51986196	51971410	C C	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG02071.hp2 HG02074.hp1 others(23): Show HG00438.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 NA18946.hp1 NA18957.hp2 NA18959.hp2 NA18967.hp2 NA18969.hp2 NA18971.hp1 NA18975.hp2 NA18999.hp2 NA19001.hp2 NA19003.hp1 NA19004.hp2 NA19011.hp1 NA19056.hp2 NA19063.hp2 NA19065.hp1 NA19067.hp1 NA19070.hp1 NA19072.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0001t0001g0022 others(1): Show a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0001t0001g0022 a0001c0001t0001g0026	26	344	0.0756	0	c.-37 others(5): Show c.-3726C>T	ABHD14A	ENSG00000248487.10	transcript	ENST00000273596.8	protein_coding	3654	chr3	TogoVar
ABHD14A_chr3_51970064_51986196	51971622	G G	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG02622.hp1 HG02717.hp2 others(6): Show HG01243.hp1 HG02622.hp1 HG02717.hp2 HG02970.hp2 HG03041.hp1 HG03098.hp1 HG03139.hp1 HG03453.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	9	344	0.0262	0	c.-35 others(5): Show c.-3514G>A	ABHD14A	ENSG00000248487.10	transcript	ENST00000273596.8	protein_coding	3442	chr3	TogoVar
ABHD14A_chr3_51970064_51986196	51971716	G G	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG02622.hp1 HG02717.hp2 others(6): Show HG01243.hp1 HG02622.hp1 HG02717.hp2 HG02970.hp2 HG03041.hp1 HG03098.hp1 HG03139.hp1 HG03453.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	9	344	0.0262	0	c.-34 others(5): Show c.-3420G>A	ABHD14A	ENSG00000248487.10	transcript	ENST00000273596.8	protein_coding	3348	chr3	TogoVar
ABHD14A_chr3_51970064_51986196	51971915	C C	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	344	0.0029	0	c.-32 others(5): Show c.-3221C>T	ABHD14A	ENSG00000248487.10	transcript	ENST00000273596.8	protein_coding	3149	chr3	TogoVar
ABHD14A_chr3_51970064_51986196	51971962	C C	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02723.hp2 HG02970.hp1 others(5): Show HG02280.hp2 HG02723.hp2 HG02970.hp1 HG03041.hp2 HG03098.hp2 HG03209.hp1 NA18906.hp1 NA20300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0006 a0002c0002t0002g0037 a0002c0002t0002g0006 a0002c0002t0002g0037	8	344	0.0233	0	c.-31 others(5): Show c.-3174C>T	ABHD14A	ENSG00000248487.10	transcript	ENST00000273596.8	protein_coding	3102	chr3	TogoVar
ABHD14A_chr3_51970064_51986196	51971995	A A	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	344	0.0029	0	c.-31 others(5): Show c.-3141A>C	ABHD14A	ENSG00000248487.10	transcript	ENST00000273596.8	protein_coding	3069	chr3	TogoVar
ABHD14A_chr3_51970064_51986196	51972037	G G	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01255.hp2 others(3): Show HG01070.hp1 HG01071.hp2 HG01255.hp2 HG01256.hp2 HG01258.hp1 HG02257.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0001 a0003c0004t0001g0001	6	344	0.0174	0	c.-30 others(5): Show c.-3099G>C	ABHD14A	ENSG00000248487.10	transcript	ENST00000273596.8	protein_coding	3027	chr3	TogoVar
ABHD14A_chr3_51970064_51986196	51972236	C C	CA CA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG01243.hp1 others(9): Show HG00423.hp1 HG00423.hp2 HG01243.hp1 HG01981.hp1 HG02135.hp2 HG02258.hp2 HG02572.hp1 HG02738.hp1 HG02738.hp2 HG02886.hp2 NA18940.hp2 NA18975.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0002c0002 a0008c0007 a0001c0001 a0002c0002 a0008c0007	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 others(1): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0008c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(5): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0025 a0002c0002t0001g0010 a0002c0002t0002g0007 a0008c0007t0001g0036	12	344	0.0349	1	c.-29 others(12): Show c.-2900_-2899insA	ABHD14A	ENSG00000248487.10	transcript	ENST00000273596.8	protein_coding	2827	chr3	TogoVar
ABHD14A_chr3_51970064_51986196	51972332	G G	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 HG02965.hp1 NA18906.hp2 others(1): Show HG02922.hp1 HG02965.hp1 NA18906.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	4	344	0.0116	0	c.-28 others(5): Show c.-2804G>A	ABHD14A	ENSG00000248487.10	transcript	ENST00000273596.8	protein_coding	2732	chr3	TogoVar
ABHD14A_chr3_51970064_51986196	51972389	C C	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00438.hp2 others(53): Show HG00408.hp2 HG00423.hp2 HG00438.hp2 HG00558.hp2 HG01074.hp1 HG01243.hp1 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG02071.hp1 HG02083.hp1 HG02135.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp2 HG02486.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02622.hp1 HG02717.hp2 HG02723.hp2 HG02896.hp1 HG02897.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03209.hp1 HG03453.hp1 HG03471.hp2 HG03516.hp1 HG03540.hp1 HG03669.hp1 HG04228.hp2 NA18522.hp2 NA18906.hp1 NA18940.hp2 NA18951.hp1 NA18959.hp1 NA18967.hp1 NA18973.hp2 NA19000.hp1 NA19030.hp1 NA19054.hp1 NA19079.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp2 NA20905.hp2 NA21309.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0002c0002 a0008c0007 a0001c0001 a0002c0002 a0008c0007	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 others(1): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0008c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(12): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0031 a0002c0002t0001g0010 a0002c0002t0002g0006 a0002c0002t0002g0007 a0002c0002t0002g0009 a0002c0002t0002g0014 a0002c0002t0002g0032 a0002c0002t0002g0033 a0002c0002t0002g0034 a0002c0002t0002g0035 a0002c0002t0002g0037 a0008c0007t0001g0036	56	344	0.1628	0	c.-27 others(5): Show c.-2747C>A	ABHD14A	ENSG00000248487.10	transcript	ENST00000273596.8	protein_coding	2675	chr3	TogoVar
ABHD14A_chr3_51970064_51986196	51972521	C C	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp2 HG01257.hp2 HG04184.hp1 HG01175.hp2 HG01257.hp2 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0030 a0001c0001t0001g0008 a0001c0001t0001g0030	3	344	0.0087	0	c.-26 others(5): Show c.-2615C>A	ABHD14A	ENSG00000248487.10	transcript	ENST00000273596.8	protein_coding	2543	chr3	TogoVar
ABHD14A_chr3_51970064_51986196	51972608	G G	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02572.hp1 HG03130.hp1 others(3): Show HG02257.hp2 HG02572.hp1 HG03130.hp1 HG03471.hp2 HG03540.hp1 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0007 a0002c0002t0002g0007	6	344	0.0174	0	c.-25 others(5): Show c.-2528G>T	ABHD14A	ENSG00000248487.10	transcript	ENST00000273596.8	protein_coding	2456	chr3	TogoVar
ABHD14A_chr3_51970064_51986196	51972617	GTAAAACC others(4): Show GTAAAACCTCAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 HG02559.hp2 HG02723.hp1 others(1): Show HG02486.hp2 HG02559.hp2 HG02723.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0020 a0001c0001t0001g0001 a0001c0001t0001g0020	4	344	0.0116	-11	c.-25 others(22): Show c.-2518_-2508delTAAAACCTCAA	ABHD14A	ENSG00000248487.10	transcript	ENST00000273596.8	protein_coding	2446	chr3	TogoVar
ABHD14A_chr3_51970064_51986196	51973044	A A	AT AT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00438.hp1 HG01106.hp1 others(16): Show HG00423.hp2 HG00438.hp1 HG01106.hp1 HG01884.hp2 HG02280.hp2 HG02486.hp1 HG02723.hp2 HG02809.hp1 HG02970.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03209.hp1 NA18906.hp1 NA18940.hp2 NA18978.hp1 NA18978.hp2 NA19003.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0002c0002t0002g0006 a0002c0002t0002g0014 a0002c0002t0002g0037	19	344	0.0552	1	c.-20 others(12): Show c.-2092_-2091insT	ABHD14A	ENSG00000248487.10	transcript	ENST00000273596.8	protein_coding	2019	chr3	TogoVar
ABHD14A_chr3_51970064_51986196	51973218	G G	GT GT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01175.hp1 others(12): Show HG01070.hp1 HG01071.hp2 HG01175.hp1 HG01255.hp2 HG01256.hp2 HG01258.hp1 HG02074.hp2 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG03486.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18940.hp2	a0001 a0003 a0008 a0001 a0003 a0008	a0001c0001 a0003c0004 a0008c0007 a0001c0001 a0003c0004 a0008c0007	a0001c0001t0001 a0003c0004t0001 a0008c0007t0001 a0001c0001t0001 a0003c0004t0001 a0008c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0003c0004t0001g0001 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0003c0004t0001g0001 a0008c0007t0001g0036	15	344	0.0436	1	c.-19 others(12): Show c.-1918_-1917insT	ABHD14A	ENSG00000248487.10	transcript	ENST00000273596.8	protein_coding	1845	chr3	TogoVar
ABHD14A_chr3_51970064_51986196	51973218	G G	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18954.hp1 NA19063.hp1 NA19077.hp2 NA18954.hp1 NA19063.hp1 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	344	0.0087	0	c.-19 others(5): Show c.-1918G>T	ABHD14A	ENSG00000248487.10	transcript	ENST00000273596.8	protein_coding	1846	chr3	TogoVar
ABHD14A_chr3_51970064_51986196	51973264	G G	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0008 a0008	a0008c0007 a0008c0007	a0008c0007t0001 a0008c0007t0001	a0008c0007t0001g0036 a0008c0007t0001g0036	1	344	0.0029	0	c.-18 others(5): Show c.-1872G>A	ABHD14A	ENSG00000248487.10	transcript	ENST00000273596.8	protein_coding	1800	chr3	TogoVar
ABHD14A_chr3_51970064_51986196	51973278	C C	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00558.hp2 HG01074.hp1 others(11): Show HG00423.hp2 HG00558.hp2 HG01074.hp1 HG02071.hp1 HG02083.hp1 HG02523.hp2 HG04228.hp2 NA18940.hp2 NA18951.hp1 NA18959.hp1 NA18967.hp1 NA18973.hp2 NA19000.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0031 a0001c0001t0001g0003 a0001c0001t0001g0031	14	344	0.0407	0	c.-18 others(5): Show c.-1858C>T	ABHD14A	ENSG00000248487.10	transcript	ENST00000273596.8	protein_coding	1786	chr3	TogoVar
ABHD14A_chr3_51970064_51986196	51973505	G G	GT GT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp2 HG02257.hp1 HG03942.hp1 others(9): Show HG02074.hp2 HG02257.hp1 HG03942.hp1 NA18959.hp2 NA18967.hp2 NA18971.hp1 NA19003.hp1 NA19004.hp2 NA19011.hp1 NA19065.hp1 NA19067.hp1 NA19067.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0001 a0001c0001t0001 a0003c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0027 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0027 a0003c0004t0001g0001	12	344	0.0349	1	c.-16 others(12): Show c.-1631_-1630insT	ABHD14A	ENSG00000248487.10	transcript	ENST00000273596.8	protein_coding	1558	chr3	TogoVar
ABHD14A_chr3_51970064_51986196	51973505	G G	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0034 a0002c0002t0002g0034	1	344	0.0029	0	c.-16 others(5): Show c.-1631G>T	ABHD14A	ENSG00000248487.10	transcript	ENST00000273596.8	protein_coding	1559	chr3	TogoVar
ABHD14A_chr3_51970064_51986196	51973505	GT GT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp2 HG01257.hp2 HG02258.hp1 others(12): Show HG01175.hp2 HG01257.hp2 HG02258.hp1 HG02572.hp2 HG02647.hp2 HG02976.hp2 HG03710.hp1 HG03710.hp2 HG04184.hp1 NA18944.hp2 NA18992.hp1 NA18992.hp2 NA18995.hp2 NA18998.hp1 NA18998.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0010 a0001c0001 a0007c0010	a0001c0001t0001 a0007c0010t0001 a0001c0001t0001 a0007c0010t0001	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0013 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0029 a0001c0001t0001g0030 a0007c0010t0001g0008	15	344	0.0436	-1	c.-16 others(6): Show c.-1630delT	ABHD14A	ENSG00000248487.10	transcript	ENST00000273596.8	protein_coding	1558	chr3	TogoVar
ABHD14A_chr3_51970064_51986196	51973506	T T	TTTTTTTT others(6): Show TTTTTTTTTTTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG01884.hp2 HG01891.hp2 others(12): Show HG01243.hp1 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG02258.hp2 HG02486.hp1 HG02622.hp1 HG02717.hp2 HG02970.hp2 HG03041.hp1 HG03098.hp1 HG03139.hp1 HG03453.hp1 NA19030.hp1 NA21309.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0002c0002 a0008c0007 a0001c0001 a0002c0002 a0008c0007	a0001c0001t0001 a0002c0002t0002 a0008c0007t0001 a0001c0001t0001 a0002c0002t0002 a0008c0007t0001	a0001c0001t0001g0005 a0002c0002t0002g0014 a0002c0002t0002g0033 others(2): Show a0001c0001t0001g0005 a0002c0002t0002g0014 a0002c0002t0002g0033 a0002c0002t0002g0035 a0008c0007t0001g0036	15	344	0.0436	13	c.-16 others(24): Show c.-1630_-1629insTTTTTTTTTTTTC	ABHD14A	ENSG00000248487.10	transcript	ENST00000273596.8	protein_coding	1557	chr3	TogoVar
ABHD14A_chr3_51970064_51986196	51973507	T T	TTTTTTTT others(4): Show TTTTTTTTTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0034 a0002c0002t0002g0034	1	344	0.0029	11	c.-16 others(22): Show c.-1629_-1628insTTTTTTTTTTC	ABHD14A	ENSG00000248487.10	transcript	ENST00000273596.8	protein_coding	1556	chr3	TogoVar
ABHD14A_chr3_51970064_51986196	51973507	T T	TTTTTTTT others(5): Show TTTTTTTTTTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00558.hp2 HG02071.hp1 others(11): Show HG00423.hp2 HG00558.hp2 HG02071.hp1 HG02083.hp1 HG02523.hp2 HG04228.hp2 NA18940.hp2 NA18951.hp1 NA18959.hp1 NA18967.hp1 NA18973.hp2 NA19000.hp1 NA19079.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0031 a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0031	14	344	0.0407	12	c.-16 others(23): Show c.-1629_-1628insTTTTTTTTTTTC	ABHD14A	ENSG00000248487.10	transcript	ENST00000273596.8	protein_coding	1556	chr3	TogoVar
ABHD14A_chr3_51970064_51986196	51973507	T T	TTTTTTTT others(6): Show TTTTTTTTTTTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00438.hp2 HG02135.hp2 others(2): Show HG00408.hp2 HG00438.hp2 HG02135.hp2 HG03669.hp1 NA19054.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0010 a0002c0002t0001g0010	5	344	0.0145	13	c.-16 others(24): Show c.-1629_-1628insTTTTTTTTTTTTC	ABHD14A	ENSG00000248487.10	transcript	ENST00000273596.8	protein_coding	1556	chr3	TogoVar
ABHD14A_chr3_51970064_51986196	51973508	T T	TTTTTTTT others(5): Show TTTTTTTTTTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02723.hp2 HG02970.hp1 others(5): Show HG02280.hp2 HG02723.hp2 HG02970.hp1 HG03041.hp2 HG03098.hp2 HG03209.hp1 NA18906.hp1 NA20300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0006 a0002c0002t0002g0037 a0002c0002t0002g0006 a0002c0002t0002g0037	8	344	0.0233	12	c.-16 others(23): Show c.-1628_-1627insTTTTTTTTTTTC	ABHD14A	ENSG00000248487.10	transcript	ENST00000273596.8	protein_coding	1555	chr3	TogoVar
ABHD14A_chr3_51970064_51986196	51973508	T T	TTTTTTTT others(6): Show TTTTTTTTTTTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02559.hp1 HG02572.hp1 others(9): Show HG02257.hp2 HG02559.hp1 HG02572.hp1 HG02896.hp1 HG02897.hp1 HG03130.hp1 HG03471.hp2 HG03516.hp1 HG03540.hp1 NA18522.hp2 NA19240.hp1 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0007 a0002c0002t0002g0009 a0002c0002t0002g0032 a0002c0002t0002g0007 a0002c0002t0002g0009 a0002c0002t0002g0032	12	344	0.0349	13	c.-16 others(24): Show c.-1628_-1627insTTTTTTTTTTTTC	ABHD14A	ENSG00000248487.10	transcript	ENST00000273596.8	protein_coding	1555	chr3	TogoVar
ABHD14A_chr3_51970064_51986196	51973519	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	344	0.0029	13	c.-16 others(24): Show c.-1617_-1616insTTTTTTTTTTTCT	ABHD14A	ENSG00000248487.10	transcript	ENST00000273596.8	protein_coding	1544	chr3	TogoVar
ABHD14A_chr3_51970064_51986196	51973519	C C	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18957.hp2 NA19001.hp2 NA18957.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	344	0.0058	0	c.-16 others(5): Show c.-1617C>T	ABHD14A	ENSG00000248487.10	transcript	ENST00000273596.8	protein_coding	1545	chr3	TogoVar
ABHD14A_chr3_51970064_51986196	51973520	T T	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	344	0.0029	0	c.-16 others(5): Show c.-1616T>C	ABHD14A	ENSG00000248487.10	transcript	ENST00000273596.8	protein_coding	1544	chr3	TogoVar
ABHD14A_chr3_51970064_51986196	51973522	T T	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01169.hp2 HG02602.hp1 HG02818.hp1 others(2): Show HG01169.hp2 HG02602.hp1 HG02818.hp1 HG03831.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0001 a0001c0001t0001g0015	5	344	0.0145	0	c.-16 others(5): Show c.-1614T>C	ABHD14A	ENSG00000248487.10	transcript	ENST00000273596.8	protein_coding	1542	chr3	TogoVar
ABHD14A_chr3_51970064_51986196	51973748	C C	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0001 a0006c0009t0001g0001	1	344	0.0029	0	c.-13 others(5): Show c.-1388C>T	ABHD14A	ENSG00000248487.10	transcript	ENST00000273596.8	protein_coding	1316	chr3	TogoVar
ABHD14A_chr3_51970064_51986196	51973750	A A	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0008 a0008	a0008c0007 a0008c0007	a0008c0007t0001 a0008c0007t0001	a0008c0007t0001g0036 a0008c0007t0001g0036	1	344	0.0029	0	c.-13 others(5): Show c.-1386A>G	ABHD14A	ENSG00000248487.10	transcript	ENST00000273596.8	protein_coding	1314	chr3	TogoVar
ABHD14A_chr3_51970064_51986196	51973845	G G	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	344	0.0029	0	c.-12 others(5): Show c.-1291G>A	ABHD14A	ENSG00000248487.10	transcript	ENST00000273596.8	protein_coding	1219	chr3	TogoVar
ABHD14A_chr3_51970064_51986196	51974317	C C	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00438.hp2 HG02135.hp2 others(2): Show HG00408.hp2 HG00438.hp2 HG02135.hp2 HG03669.hp1 NA19054.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0010 a0002c0002t0001g0010	5	344	0.0145	0	c.-81 others(4): Show c.-819C>G	ABHD14A	ENSG00000248487.10	transcript	ENST00000273596.8	protein_coding	747	chr3	TogoVar

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