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
ABCC1_chr16_15944616_16148053	15944717	G G	GTGTGTGT others(9): Show GTGTGTGTGTGTATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0011 a0001c0012t0011	a0001c0012t0011g0081 a0001c0012t0011g0081	1	249	0.0040	16	c.-50 others(27): Show c.-5035_-5034insTGTGTGTGTGTATATA	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding		4898		chr16	TogoVar
ABCC1_chr16_15944616_16148053	15944717	G G	GTGTGTGT others(9): Show GTGTGTGTGTGTGTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG03579.hp1 HG01109.hp2 HG03579.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0009 a0001c0008t0009	a0001c0008t0009g0016 a0001c0008t0009g0185 a0001c0008t0009g0016 a0001c0008t0009g0185	2	249	0.0080	16	c.-50 others(27): Show c.-5035_-5034insTGTGTGTGTGTGTATA	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding		4898		chr16	TogoVar
ABCC1_chr16_15944616_16148053	15982803	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01261.hp2 HG02135.hp1 others(4): Show HG01071.hp1 HG01261.hp2 HG02135.hp1 HG02135.hp2 NA18968.hp1 NA18998.hp2 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0007 a0001c0001t0014 others(4): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0014 a0001c0002t0001 a0001c0003t0001 a0001c0004t0002 a0001c0004t0013	a0001c0001t0001g0174 a0001c0001t0007g0245 a0001c0001t0014g0199 others(4): Show a0001c0001t0001g0174 a0001c0001t0007g0245 a0001c0001t0014g0199 a0001c0002t0001g0209 a0001c0003t0001g0212 a0001c0004t0002g0146 a0001c0004t0013g0047	7	249	0.0281	16	c.49- others(33): Show c.49-25007_49-24992dupAAAAAAAAAAAAAAAA	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABCC1_chr16_15944616_16148053	15994416	T T	TAGTCCTG others(9): Show TAGTCCTGACTTTGTAG	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0230 a0001c0003t0004g0230	1	249	0.0040	16	c.49- others(33): Show c.49-13399_49-13384dupAGTCCTGACTTTGTAG	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABCC1_chr16_15944616_16148053	15998996	A A	AAAAAAAA others(9): Show AAAAAAAATTTTTATAT	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0219 a0001c0003t0014g0219	1	249	0.0040	16	c.49- others(31): Show c.49-8819_49-8804dupAAAAAAATTTTTATAT	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABCC1_chr16_15944616_16148053	15999769	T T	TTCTCTCT others(9): Show TTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG03492.hp2 NA18953.hp1 HG00738.hp1 HG03492.hp2 NA18953.hp1	a0001 a0001	a0001c0004 a0001c0009 a0001c0013 a0001c0004 a0001c0009 a0001c0013	a0001c0004t0002 a0001c0009t0008 a0001c0013t0002 a0001c0004t0002 a0001c0009t0008 a0001c0013t0002	a0001c0004t0002g0158 a0001c0009t0008g0089 a0001c0013t0002g0156 a0001c0004t0002g0158 a0001c0009t0008g0089 a0001c0013t0002g0156	3	249	0.0121	16	c.49- others(31): Show c.49-8022_49-8007dupTCTCTCTCTCTCTCTC	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABCC1_chr16_15944616_16148053	15999836	C C	CTCTTTCT others(9): Show CTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0150 a0001c0002t0002g0150	1	249	0.0040	16	c.49- others(31): Show c.49-7957_49-7942dupTTTCTTTCTTTCTTTC	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABCC1_chr16_15944616_16148053	16007214	T T	TTGTGTGT others(9): Show TTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03453.hp2 NA18906.hp2 HG03453.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0020 a0001c0001t0010 a0001c0001t0020	a0001c0001t0010g0087 a0001c0001t0020g0102 a0001c0001t0010g0087 a0001c0001t0020g0102	2	249	0.0080	16	c.49- others(29): Show c.49-587_49-572dupTGTGTGTGTGTGTGTG	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABCC1_chr16_15944616_16148053	16038043	A A	AGGATGGA others(9): Show AGGATGGATGGATGGAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01884.hp1 HG02055.hp2 others(9): Show HG01243.hp2 HG01884.hp1 HG02055.hp2 HG02630.hp1 HG02818.hp2 HG02895.hp2 HG02897.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp2 HG03579.hp1 NA19030.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0007	a0001c0001 a0001c0005 a0001c0006 others(5): Show a0001c0001 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0003c0025 a0004c0026 a0007c0027	a0001c0001t0008 a0001c0001t0016 a0001c0005t0005 others(6): Show a0001c0001t0008 a0001c0001t0016 a0001c0005t0005 a0001c0006t0002 a0001c0007t0011 a0001c0008t0009 a0003c0025t0006 a0004c0026t0006 a0007c0027t0001	a0001c0001t0008g0002 a0001c0001t0008g0246 a0001c0001t0016g0018 others(9): Show a0001c0001t0008g0002 a0001c0001t0008g0246 a0001c0001t0016g0018 a0001c0001t0016g0019 a0001c0005t0005g0095 a0001c0005t0005g0116 a0001c0006t0002g0044 a0001c0007t0011g0022 a0001c0008t0009g0185 a0003c0025t0006g0001 a0004c0026t0006g0231 a0007c0027t0001g0029	12	249	0.0482	16	c.809 others(33): Show c.809+1445_809+1460dupGGATGGATGGATGGAT	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	7/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABCC1_chr16_15944616_16148053	16143529	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG02615.hp2 HG02630.hp2 others(1): Show HG01109.hp2 HG02615.hp2 HG02630.hp2 HG03471.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0009 a0001c0008t0009	a0001c0008t0009g0004 a0001c0008t0009g0015 a0001c0008t0009g0016 others(1): Show a0001c0008t0009g0004 a0001c0008t0009g0015 a0001c0008t0009g0016 a0001c0008t0009g0020	4	249	0.0161	16	c.22 others(27): Show c.2248_*2249insTTTTTTTTTTTTTTTT	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding		477		chr16	TogoVar
ABCC2_chr10_99777640_99857594	99778457	G G	GAGAGAGA others(9): Show GAGAGAGAGAGAGAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0013 a0013	a0013c0018 a0013c0018	a0013c0018t0001 a0013c0018t0001	a0013c0018t0001g0007 a0013c0018t0001g0007	1	336	0.0030	16	c.-43 others(27): Show c.-4388_-4387insAGAGAGAGAGAGAGAA	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding		4182		chr10	TogoVar
ABCC2_chr10_99777640_99857594	99795801	A A	AAGAAAGA others(9): Show AAGAAAGAAAGATAGAG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01109.hp1 HG01517.hp1 others(4): Show HG00140.hp2 HG01109.hp1 HG01517.hp1 NA18971.hp1 NA18981.hp1 NA19083.hp2 NA20129.hp2	a0001 a0005 a0006 others(1): Show a0001 a0005 a0006 a0022	a0001c0001 a0001c0002 a0005c0008 others(2): Show a0001c0001 a0001c0002 a0005c0008 a0006c0009 a0022c0028	a0001c0001t0001 a0001c0002t0002 a0005c0008t0001 others(2): Show a0001c0001t0001 a0001c0002t0002 a0005c0008t0001 a0006c0009t0001 a0022c0028t0001	a0001c0001t0001g0221 a0001c0002t0002g0040 a0001c0002t0002g0046 others(4): Show a0001c0001t0001g0221 a0001c0002t0002g0040 a0001c0002t0002g0046 a0001c0002t0002g0047 a0005c0008t0001g0045 a0006c0009t0001g0155 a0022c0028t0001g0280	7	336	0.0208	16	c.633 others(33): Show c.633-1293_633-1292insAAGAAAGATAGAGAGA	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	6/31		INFO_REALIGN_3_PRIME	chr10	TogoVar
ABCC2_chr10_99777640_99857594	99806077	C C	CTCTCTCT others(9): Show CTCTCTCTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	336	0.0030	16	c.153 others(33): Show c.1530+631_1530+632insCTCTCTGTGTGTGTGT	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	11/31		INFO_REALIGN_3_PRIME	chr10	TogoVar
ABCC2_chr10_99777640_99857594	99806077	C C	CTCTGTGT others(9): Show CTCTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0019 a0019	a0019c0023 a0019c0023	a0019c0023t0001 a0019c0023t0001	a0019c0023t0001g0219 a0019c0023t0001g0219	1	336	0.0030	16	c.153 others(33): Show c.1530+631_1530+632insCTGTGTGTGTGTGTGT	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	11/31		INFO_REALIGN_3_PRIME	chr10	TogoVar
ABCC2_chr10_99777640_99857594	99838188	G G	GACCCCCC others(9): Show GACCCCCCCACCTCCCT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02622.hp2 HG02896.hp2 HG02109.hp1 HG02622.hp2 HG02896.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0078 a0004c0006t0001g0079 a0004c0006t0001g0088 a0004c0006t0001g0078 a0004c0006t0001g0079 a0004c0006t0001g0088	3	336	0.0089	16	c.361 others(35): Show c.3614+1898_3614+1899insACCCCCCCACCTCCCT	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	25/31			chr10	TogoVar
ABCC3_chr17_50629881_50697253	50673980	C C	CTTTCTCT others(9): Show CTTTCTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	342	0.0029	16	c.259 others(33): Show c.2599+323_2599+324insTTCTCTTTCTTTCTTT	ABCC3	ENSG00000108846.16	transcript	ENST00000285238.13	protein_coding	19/30		INFO_REALIGN_3_PRIME	chr17	TogoVar
ABCC3_chr17_50629881_50697253	50673980	C C	CTTTCTTT others(9): Show CTTTCTTTCTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG06807.hp1 NA19080.hp2 HG02080.hp2 HG06807.hp1 NA19080.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0014 a0004c0007 a0001c0001 a0001c0014 a0004c0007	a0001c0001t0001 a0001c0014t0001 a0004c0007t0001 a0001c0001t0001 a0001c0014t0001 a0004c0007t0001	a0001c0001t0001g0254 a0001c0014t0001g0121 a0004c0007t0001g0118 a0001c0001t0001g0254 a0001c0014t0001g0121 a0004c0007t0001g0118	3	342	0.0088	16	c.259 others(33): Show c.2599+323_2599+324insTTCTTTCTCTTTCTTT	ABCC3	ENSG00000108846.16	transcript	ENST00000285238.13	protein_coding	19/30		INFO_REALIGN_3_PRIME	chr17	TogoVar
ABCC3_chr17_50629881_50697253	50673980	C C	CTTTCTTT others(9): Show CTTTCTTTCTTTCTCTT	intron_variant intron_variant	MODIFIER	HG01069.hp2 NA18960.hp2 HG01069.hp2 NA18960.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0007 a0001c0001 a0004c0007	a0001c0001t0001 a0004c0007t0001 a0001c0001t0001 a0004c0007t0001	a0001c0001t0001g0262 a0004c0007t0001g0060 a0001c0001t0001g0262 a0004c0007t0001g0060	2	342	0.0059	16	c.259 others(33): Show c.2599+323_2599+324insTTCTTTCTTTCTCTTT	ABCC3	ENSG00000108846.16	transcript	ENST00000285238.13	protein_coding	19/30		INFO_REALIGN_3_PRIME	chr17	TogoVar
ABCC4_chr13_95014835_95306451	95029988	T T	TATCCATC others(9): Show TATCCATCCATCCATCC	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0006 a0001c0023t0006	a0001c0023t0006g0008 a0001c0023t0006g0008	1	248	0.0040	16	c.387 others(35): Show c.3870+4601_3870+4616dupGGATGGATGGATGGAT	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	30/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95054021	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02922.hp1 HG02630.hp2 HG02922.hp1	a0001 a0001	a0001c0026 a0001c0046 a0001c0026 a0001c0046	a0001c0026t0005 a0001c0046t0001 a0001c0026t0005 a0001c0046t0001	a0001c0026t0005g0050 a0001c0046t0001g0078 a0001c0026t0005g0050 a0001c0046t0001g0078	2	248	0.0081	16	c.336 others(33): Show c.3367-853_3367-838dupAAAAAAAAAAAAAAAA	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	26/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95086087	T T	TTGTGTGT others(9): Show TTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00609.hp1 HG02615.hp2 others(5): Show HG00323.hp1 HG00609.hp1 HG02615.hp2 NA18951.hp2 NA18974.hp1 NA19009.hp2 NA19012.hp1 NA19057.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0001c0051 others(3): Show a0001c0001 a0001c0002 a0001c0051 a0003c0008 a0003c0016 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0051t0012 a0003c0008t0001 a0003c0016t0001 a0004c0006t0001	a0001c0001t0001g0211 a0001c0001t0002g0221 a0001c0002t0002g0116 others(5): Show a0001c0001t0001g0211 a0001c0001t0002g0221 a0001c0002t0002g0116 a0001c0002t0002g0196 a0001c0051t0012g0065 a0003c0008t0001g0062 a0003c0016t0001g0200 a0004c0006t0001g0136	8	248	0.0323	16	c.253 others(35): Show c.2536-2813_2536-2798dupCACACACACACACACA	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	20/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95126720	A A	AATATATA others(9): Show AATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01496.hp2 HG02257.hp2 others(1): Show HG01192.hp1 HG01496.hp2 HG02257.hp2 NA19030.hp1	a0001 a0016 a0001 a0016	a0001c0001 a0001c0012 a0001c0025 others(1): Show a0001c0001 a0001c0012 a0001c0025 a0016c0073	a0001c0001t0001 a0001c0012t0006 a0001c0025t0002 others(1): Show a0001c0001t0001 a0001c0012t0006 a0001c0025t0002 a0016c0073t0001	a0001c0001t0001g0163 a0001c0012t0006g0224 a0001c0025t0002g0075 others(1): Show a0001c0001t0001g0163 a0001c0012t0006g0224 a0001c0025t0002g0075 a0016c0073t0001g0186	4	248	0.0161	16	c.245 others(37): Show c.2456-10735_2456-10720dupATATATATATATATAT	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	19/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95126732	T T	TATATATA others(9): Show TATATATATATTCCAAA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0049 a0001c0049	a0001c0049t0003 a0001c0049t0003	a0001c0049t0003g0067 a0001c0049t0003g0067	1	248	0.0040	16	c.245 others(37): Show c.2456-10732_2456-10731insTTTGGAATATATATAT	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	19/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95157088	C C	CCACACAC others(9): Show CCACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0016 a0016	a0016c0073 a0016c0073	a0016c0073t0001 a0016c0073t0001	a0016c0073t0001g0186 a0016c0073t0001g0186	1	248	0.0040	16	c.245 others(35): Show c.2455+4085_2455+4100dupTGTGTGTGTGTGTGTG	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	19/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95159091	T T	TTATATAT others(9): Show TTATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0185 a0001c0007t0002g0185	1	248	0.0040	16	c.245 others(35): Show c.2455+2097_2455+2098insTATATATATATATATA	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	19/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95159093	T T	TTATATAT others(9): Show TTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0001 a0001c0021t0001	a0001c0021t0001g0011 a0001c0021t0001g0011	1	248	0.0040	16	c.245 others(35): Show c.2455+2080_2455+2095dupTATATATATATATATA	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	19/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95196582	G G	GAGGAAGG others(9): Show GAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01255.hp2 HG00738.hp2 HG01255.hp2	a0001 a0001	a0001c0003 a0001c0065 a0001c0003 a0001c0065	a0001c0003t0002 a0001c0065t0007 a0001c0003t0002 a0001c0065t0007	a0001c0003t0002g0179 a0001c0065t0007g0006 a0001c0003t0002g0179 a0001c0065t0007g0006	2	248	0.0081	16	c.116 others(35): Show c.1162-1661_1162-1646dupTCCTTCCTTCCTTCCT	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	8/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95218927	G G	GAGAAAGA others(9): Show GAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 NA18969.hp1 NA19074.hp1 HG00438.hp2 NA18969.hp1 NA19074.hp1	a0003 a0004 a0003 a0004	a0003c0029 a0004c0006 a0003c0029 a0004c0006	a0003c0029t0002 a0004c0006t0001 a0004c0006t0002 a0003c0029t0002 a0004c0006t0001 a0004c0006t0002	a0003c0029t0002g0204 a0004c0006t0001g0104 a0004c0006t0002g0061 a0003c0029t0002g0204 a0004c0006t0001g0104 a0004c0006t0002g0061	3	248	0.0121	16	c.532 others(33): Show c.532-8162_532-8147dupTTCTTTCTTTCTTTCT	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	4/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95244596	T T	TGAAAGAA others(9): Show TGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0008 a0001c0014t0008	a0001c0014t0008g0242 a0001c0014t0008g0242	1	248	0.0040	16	c.306 others(33): Show c.306+2363_306+2378dupTTTCTTTCTTTCTTTC	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	3/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95244670	A A	AAAGAAAG others(9): Show AAAGAAAGAAATCAATC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0066 a0001c0001t0002g0066	1	248	0.0040	16	c.306 others(33): Show c.306+2304_306+2305insGATTGATTTCTTTCTT	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	3/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95247918	G G	GCACACAC others(9): Show GCACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp1 HG00438.hp2 others(58): Show HG00280.hp1 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00609.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG01074.hp1 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01255.hp2 HG01346.hp1 HG01361.hp1 HG01361.hp2 HG01952.hp2 HG02080.hp1 HG02080.hp2 HG02129.hp1 HG02129.hp2 HG02148.hp1 HG02258.hp2 HG02735.hp2 HG03491.hp2 HG03704.hp1 HG04184.hp1 HG04199.hp2 HG04204.hp1 NA18747.hp2 NA18948.hp1 NA18952.hp2 NA18959.hp1 NA18966.hp2 NA18968.hp1 NA18971.hp1 NA18975.hp2 NA18979.hp1 NA18983.hp2 NA18988.hp1 NA19002.hp2 NA19005.hp1 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19030.hp1 NA19056.hp1 NA19057.hp2 NA19060.hp2 NA19065.hp2 NA19074.hp1 NA19074.hp2 NA19084.hp2 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20752.hp1 NA21309.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0016	a0001c0001 a0001c0002 a0001c0003 others(15): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0010 a0001c0011 a0001c0012 a0001c0014 a0001c0017 a0002c0004 a0002c0005 a0003c0008 a0003c0029 a0004c0006 a0004c0030 a0005c0018 a0006c0038 a0016c0073	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(27): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0001t0020 a0001c0002t0001 a0001c0003t0001 a0001c0003t0002 a0001c0003t0010 a0001c0003t0014 a0001c0003t0025 a0001c0007t0001 a0001c0007t0002 a0001c0010t0007 a0001c0011t0002 a0001c0012t0001 a0001c0012t0006 a0001c0014t0007 a0001c0017t0002 a0002c0004t0001 a0002c0004t0002 a0002c0005t0002 a0003c0008t0001 a0003c0029t0002 a0004c0006t0001 a0004c0006t0015 a0004c0030t0002 a0005c0018t0002 a0006c0038t0002 a0016c0073t0001	a0001c0001t0001g0169 a0001c0001t0001g0189 a0001c0001t0001g0240 others(58): Show a0001c0001t0001g0169 a0001c0001t0001g0189 a0001c0001t0001g0240 a0001c0001t0002g0106 a0001c0001t0002g0160 a0001c0001t0005g0044 a0001c0001t0008g0246 a0001c0001t0020g0168 a0001c0002t0001g0142 a0001c0002t0001g0226 a0001c0002t0001g0230 a0001c0003t0001g0029 a0001c0003t0001g0098 a0001c0003t0001g0134 a0001c0003t0001g0149 a0001c0003t0001g0155 a0001c0003t0001g0216 a0001c0003t0001g0225 a0001c0003t0001g0233 a0001c0003t0002g0076 a0001c0003t0002g0095 a0001c0003t0002g0096 a0001c0003t0002g0114 a0001c0003t0002g0179 a0001c0003t0002g0231 a0001c0003t0010g0210 a0001c0003t0014g0082 a0001c0003t0025g0243 a0001c0007t0001g0237 a0001c0007t0002g0107 a0001c0007t0002g0219 a0001c0007t0002g0227 a0001c0007t0002g0229 a0001c0010t0007g0143 a0001c0010t0007g0167 a0001c0010t0007g0180 a0001c0011t0002g0101 a0001c0011t0002g0202 a0001c0012t0001g0081 a0001c0012t0006g0224 a0001c0014t0007g0170 a0001c0017t0002g0115 a0002c0004t0001g0140 a0002c0004t0002g0234 a0002c0005t0002g0092 a0002c0005t0002g0093 a0002c0005t0002g0235 a0003c0008t0001g0099 a0003c0029t0002g0204 a0004c0006t0001g0104 a0004c0006t0001g0136 a0004c0006t0001g0137 a0004c0006t0001g0157 a0004c0006t0001g0176 a0004c0006t0001g0192 a0004c0006t0015g0105 a0004c0030t0002g0069 a0004c0030t0002g0156 a0005c0018t0002g0236 a0006c0038t0002g0145 a0016c0073t0001g0186	61	248	0.2460	16	c.75- others(29): Show c.75-181_75-166dupTGTGTGTGTGTGTGTG	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	1/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95286123	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00609.hp1 HG00738.hp2 others(8): Show HG00423.hp1 HG00609.hp1 HG00738.hp2 HG01243.hp1 HG02055.hp2 HG02257.hp2 HG02523.hp2 HG02647.hp1 HG02896.hp1 HG03540.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0013 others(5): Show a0001c0001 a0001c0010 a0001c0013 a0001c0014 a0001c0021 a0001c0025 a0001c0065 a0001c0071	a0001c0001t0002 a0001c0010t0004 a0001c0010t0024 others(6): Show a0001c0001t0002 a0001c0010t0004 a0001c0010t0024 a0001c0013t0001 a0001c0014t0008 a0001c0021t0001 a0001c0025t0002 a0001c0065t0007 a0001c0071t0009	a0001c0001t0002g0209 a0001c0001t0002g0221 a0001c0010t0004g0119 others(8): Show a0001c0001t0002g0209 a0001c0001t0002g0221 a0001c0010t0004g0119 a0001c0010t0024g0024 a0001c0013t0001g0037 a0001c0014t0008g0242 a0001c0021t0001g0009 a0001c0021t0001g0011 a0001c0025t0002g0075 a0001c0065t0007g0006 a0001c0071t0009g0010	11	248	0.0444	16	c.74+ others(33): Show c.74+15117_74+15118insAAAAAAAAAAAAAAAA	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	1/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95290103	A A	AATAGATA others(9): Show AATAGATAGATAGACAG	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0237 a0001c0007t0001g0237	1	248	0.0040	16	c.74+ others(33): Show c.74+11137_74+11138insCTGTCTATCTATCTAT	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	1/30			chr13	TogoVar
ABCC5_chr3_183914934_184022884	184012014	A A	AACACACA others(9): Show AACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01167.hp1 NA18994.hp1 NA19001.hp1 others(1): Show HG01167.hp1 NA18994.hp1 NA19001.hp1 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0019 a0001c0001t0001g0197 a0001c0001t0003g0203 others(1): Show a0001c0001t0001g0019 a0001c0001t0001g0197 a0001c0001t0003g0203 a0001c0001t0003g0250	4	378	0.0106	16	c.129 others(33): Show c.129+2234_129+2249dupGTGTGTGTGTGTGTGT	ABCC5	ENSG00000114770.17	transcript	ENST00000334444.11	protein_coding	2/29			chr3	TogoVar
ABCC8_chr11_17387885_17481845	17434984	C C	CGCGCGTG others(9): Show CGCGCGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0013 a0013	a0013c0042 a0013c0042	a0013c0042t0001 a0013c0042t0001	a0013c0042t0001g0123 a0013c0042t0001g0123	1	330	0.0030	16	c.163 others(35): Show c.1631-2741_1631-2740insACACACACACACGCGC	ABCC8	ENSG00000006071.16	transcript	ENST00000389817.8	protein_coding	10/38			chr11	TogoVar
ABCC8_chr11_17387885_17481845	17434984	C C	CGCGTGTG others(9): Show CGCGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0130 a0001c0003t0001g0130	1	330	0.0030	16	c.163 others(35): Show c.1631-2741_1631-2740insACACACACACACACGC	ABCC8	ENSG00000006071.16	transcript	ENST00000389817.8	protein_coding	10/38			chr11	TogoVar
ABCC8_chr11_17387885_17481845	17467042	C C	CCACACAC others(9): Show CCACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp2 HG02135.hp1 others(1): Show HG02027.hp1 HG02027.hp2 HG02135.hp1 HG03942.hp1	a0001 a0013 a0001 a0013	a0001c0001 a0001c0007 a0013c0042 a0001c0001 a0001c0007 a0013c0042	a0001c0001t0001 a0001c0007t0001 a0013c0042t0001 a0001c0001t0001 a0001c0007t0001 a0013c0042t0001	a0001c0001t0001g0076 a0001c0007t0001g0124 a0001c0007t0001g0125 others(1): Show a0001c0001t0001g0076 a0001c0007t0001g0124 a0001c0007t0001g0125 a0013c0042t0001g0123	4	330	0.0121	16	c.412 others(33): Show c.412+3043_412+3058dupTGTGTGTGTGTGTGTG	ABCC8	ENSG00000006071.16	transcript	ENST00000389817.8	protein_coding	3/38			chr11	TogoVar
ABCC9_chr12_21792389_21946426	21830974	T T	TTATCTAT others(9): Show TTATCTATCTATCTATC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01255.hp1 HG01261.hp2 others(5): Show HG00323.hp2 HG01255.hp1 HG01261.hp2 HG02055.hp1 HG02486.hp2 HG03486.hp1 HG03516.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0019 a0001c0001t0001 a0001c0001t0019	a0001c0001t0001g0045 a0001c0001t0001g0102 a0001c0001t0001g0112 others(5): Show a0001c0001t0001g0045 a0001c0001t0001g0102 a0001c0001t0001g0112 a0001c0001t0001g0161 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0178 a0001c0001t0019g0196	8	212	0.0377	16	c.356 others(35): Show c.3567-1930_3567-1915dupGATAGATAGATAGATA	ABCC9	ENSG00000069431.14	transcript	ENST00000261200.9	protein_coding	30/39			chr12	TogoVar
ABCF2_chr7_151206484_151232205	151206719	A A	AAGATAGA others(9): Show AAGATAGATAGATAGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG00673.hp1 HG00735.hp1 others(43): Show HG00639.hp2 HG00673.hp1 HG00735.hp1 HG00741.hp1 HG01099.hp2 HG01175.hp2 HG01346.hp2 HG01433.hp2 HG01516.hp1 HG01517.hp1 HG02040.hp2 HG02055.hp2 HG02145.hp1 HG02257.hp1 HG02280.hp1 HG02615.hp2 HG02698.hp1 HG02738.hp1 HG02818.hp1 HG02896.hp1 HG02897.hp1 HG02970.hp1 HG03139.hp2 HG03471.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03540.hp2 HG03579.hp2 HG03704.hp2 HG03831.hp1 HG04199.hp1 NA18522.hp1 NA18942.hp1 NA18945.hp2 NA18956.hp2 NA18967.hp1 NA18974.hp2 NA18983.hp1 NA18998.hp2 NA18999.hp1 NA19011.hp2 NA19240.hp2 NA20129.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0002c0007	a0001c0001t0001 a0001c0001t0016 a0001c0001t0021 others(15): Show a0001c0001t0001 a0001c0001t0016 a0001c0001t0021 a0001c0001t0048 a0001c0002t0003 a0001c0002t0009 a0001c0002t0012 a0001c0002t0044 a0001c0002t0045 a0001c0003t0002 a0001c0003t0018 a0001c0003t0041 a0001c0004t0004 a0001c0004t0026 a0001c0005t0005 a0001c0006t0013 a0001c0008t0010 a0002c0007t0002	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0009 others(26): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0016g0037 a0001c0001t0021g0096 a0001c0001t0048g0099 a0001c0002t0003g0004 a0001c0002t0003g0010 a0001c0002t0003g0116 a0001c0002t0009g0054 a0001c0002t0012g0020 a0001c0002t0044g0081 a0001c0002t0045g0082 a0001c0003t0002g0017 a0001c0003t0002g0028 a0001c0003t0002g0059 a0001c0003t0002g0065 a0001c0003t0018g0027 a0001c0003t0041g0068 a0001c0004t0004g0005 a0001c0004t0026g0026 a0001c0005t0005g0008 a0001c0005t0005g0046 a0001c0006t0013g0030 a0001c0008t0010g0033 a0001c0008t0010g0074 a0002c0007t0002g0011	46	390	0.1180	16	c.73 others(27): Show c.7334_*7335insATCTATCTATCTATCT	ABCF2	ENSG00000033050.9	transcript	ENST00000287844.7	protein_coding		4764		chr7	TogoVar
ABCF3_chr3_184181199_184199005	184191739	G G	GTTCCTTT others(9): Show GTTCCTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	416	0.0024	16	c.156 others(33): Show c.1569+486_1569+487insCCTTTTTTTTTTTTTT	ABCF3	ENSG00000161204.12	transcript	ENST00000429586.7	protein_coding	16/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
ABCF3_chr3_184181199_184199005	184197845	T T	TTGTGTGT others(9): Show TTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	416	0.0024	16	c.41 others(27): Show c.4147_*4148insTGTGTGTGTGTGTGTG	ABCF3	ENSG00000161204.12	transcript	ENST00000429586.7	protein_coding		3841		chr3	TogoVar
ABCG1_chr21_42214140_42302244	42293407	G G	GCACTACA others(9): Show GCACTACACACATACCA	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0044 a0001c0003t0006g0044	1	354	0.0028	16	c.165 others(35): Show c.1654-1124_1654-1109dupATACCACACTACACAC	ABCG1	ENSG00000160179.19	transcript	ENST00000398449.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr21	TogoVar
ABCG2_chr4_88085269_88163639	88098645	G G	GAGATAGA others(9): Show GAGATAGATAGATAGAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01074.hp2 HG01192.hp2 others(12): Show HG00438.hp2 HG01074.hp2 HG01192.hp2 HG01516.hp1 HG02273.hp1 HG02698.hp1 HG02735.hp1 HG03471.hp2 HG03704.hp1 HG06807.hp1 NA18983.hp1 NA19054.hp2 NA19062.hp1 NA19065.hp2 NA20752.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 others(1): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0003c0003t0001	a0001c0001t0001g0019 a0001c0001t0001g0071 a0001c0001t0001g0097 others(12): Show a0001c0001t0001g0019 a0001c0001t0001g0071 a0001c0001t0001g0097 a0001c0001t0001g0160 a0001c0001t0001g0166 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0238 a0002c0002t0001g0202 a0002c0002t0002g0011 a0002c0002t0002g0036 a0002c0002t0002g0042 a0002c0002t0002g0086 a0003c0003t0001g0178 a0003c0003t0001g0196	15	350	0.0429	16	c.149 others(33): Show c.1492+663_1492+678dupATCTATCTATCTATCT	ABCG2	ENSG00000118777.12	transcript	ENST00000237612.8	protein_coding	12/15			chr4	TogoVar
ABCG2_chr4_88085269_88163639	88115231	A A	AGTCTCTC others(9): Show AGTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01123.hp2 HG01346.hp2 others(6): Show HG00099.hp1 HG01123.hp2 HG01346.hp2 HG02055.hp1 HG02109.hp2 HG02615.hp1 HG02896.hp2 HG04204.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0080 a0001c0001t0001g0082 others(6): Show a0001c0001t0001g0023 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0134 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0163 a0001c0001t0001g0166	9	350	0.0257	16	c.842 others(31): Show c.842-189_842-174dupAGAGAGAGAGAGAGAC	ABCG2	ENSG00000118777.12	transcript	ENST00000237612.8	protein_coding	7/15			chr4	TogoVar
ABCG2_chr4_88085269_88163639	88147016	G G	GGAAAGAA others(9): Show GGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01884.hp1 HG02647.hp1 others(13): Show HG00738.hp1 HG01884.hp1 HG02647.hp1 HG02717.hp1 HG02809.hp1 HG02886.hp1 HG02922.hp2 HG02976.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03453.hp2 HG03540.hp2 HG06807.hp1 NA18968.hp1 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0005 a0001c0001t0010 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0010 a0001c0005t0001	a0001c0001t0001g0075 a0001c0001t0001g0090 a0001c0001t0001g0092 others(13): Show a0001c0001t0001g0075 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0148 a0001c0001t0001g0158 a0001c0001t0005g0140 a0001c0001t0010g0078 a0001c0005t0001g0099 a0001c0005t0001g0100 a0001c0005t0001g0149	16	350	0.0457	16	c.-19 others(33): Show c.-19-7018_-19-7003dupTTTCTTTCTTTCTTTC	ABCG2	ENSG00000118777.12	transcript	ENST00000237612.8	protein_coding	1/15			chr4	TogoVar
ABCG8_chr2_43833971_43887988	43884376	A A	AAAATAAA others(9): Show AAAATAAATAAATAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG01106.hp2 HG01109.hp2 others(35): Show HG00639.hp1 HG01106.hp2 HG01109.hp2 HG01175.hp1 HG01993.hp1 HG02015.hp1 HG02015.hp2 HG02083.hp1 HG02165.hp2 HG02451.hp1 HG02572.hp1 HG02602.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp2 HG02965.hp2 HG03017.hp1 HG03041.hp1 HG03491.hp1 HG03492.hp2 HG03579.hp2 HG03831.hp1 HG03834.hp1 NA18939.hp2 NA18959.hp2 NA18969.hp1 NA18972.hp1 NA18974.hp2 NA18986.hp1 NA19003.hp2 NA19007.hp2 NA19070.hp1 NA19091.hp2 NA20752.hp2 NA20905.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0013	a0001c0001 a0002c0003 a0002c0024 others(3): Show a0001c0001 a0002c0003 a0002c0024 a0002c0026 a0003c0002 a0013c0029	a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 others(15): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0010 a0001c0001t0038 a0001c0001t0063 a0001c0001t0065 a0001c0001t0067 a0001c0001t0074 a0002c0003t0017 a0002c0003t0115 a0002c0024t0117 a0002c0026t0095 a0003c0002t0003 a0003c0002t0004 a0003c0002t0005 a0003c0002t0021 a0013c0029t0070	a0001c0001t0004g0009 a0001c0001t0004g0047 a0001c0001t0004g0080 others(32): Show a0001c0001t0004g0009 a0001c0001t0004g0047 a0001c0001t0004g0080 a0001c0001t0004g0091 a0001c0001t0004g0092 a0001c0001t0004g0093 a0001c0001t0004g0140 a0001c0001t0005g0086 a0001c0001t0005g0110 a0001c0001t0009g0060 a0001c0001t0010g0011 a0001c0001t0010g0012 a0001c0001t0010g0116 a0001c0001t0010g0117 a0001c0001t0010g0118 a0001c0001t0038g0052 a0001c0001t0038g0053 a0001c0001t0063g0104 a0001c0001t0065g0048 a0001c0001t0067g0120 a0001c0001t0074g0049 a0002c0003t0017g0195 a0002c0003t0115g0173 a0002c0024t0117g0250 a0002c0026t0095g0192 a0003c0002t0003g0267 a0003c0002t0003g0268 a0003c0002t0003g0278 a0003c0002t0004g0214 a0003c0002t0005g0021 a0003c0002t0005g0189 a0003c0002t0021g0063 a0003c0002t0021g0157 a0003c0002t0021g0163 a0013c0029t0070g0119	38	318	0.1195	16	c.64 others(27): Show c.6463_*6464insAAATAAATAAATAAAT	ABCG8	ENSG00000143921.9	transcript	ENST00000272286.4	protein_coding		1389		chr2	TogoVar
ABCG8_chr2_43833971_43887988	43887143	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 NA18944.hp2 NA18952.hp2 HG00558.hp1 NA18944.hp2 NA18952.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0019 a0001c0001t0020 a0002c0004t0041 a0001c0001t0019 a0001c0001t0020 a0002c0004t0041	a0001c0001t0019g0051 a0001c0001t0020g0084 a0002c0004t0041g0020 a0001c0001t0019g0051 a0001c0001t0020g0084 a0002c0004t0041g0020	3	318	0.0094	16	c.92 others(27): Show c.9230_*9231insAAAAAAAAAAAAAAAA	ABCG8	ENSG00000143921.9	transcript	ENST00000272286.4	protein_coding		4156		chr2	TogoVar
ABHD12B_chr14_50867053_50909970	50870981	A A	AAGAAAGA others(9): Show AAGAAAGAAAGAAAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	376	0.0027	16	c.-11 others(27): Show c.-1194_-1193insAGAAAGAAAGAAAGAG	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1071		chr14	TogoVar
ABHD12B_chr14_50867053_50909970	50870983	G G	GAAAGAAA others(9): Show GAAAGAAAGAAAGAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp1 HG03834.hp2 HG06807.hp2 HG01515.hp1 HG03834.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0001t0001 a0001c0006t0001	a0001c0001t0001g0094 a0001c0001t0001g0102 a0001c0006t0001g0059 a0001c0001t0001g0094 a0001c0001t0001g0102 a0001c0006t0001g0059	3	376	0.0080	16	c.-11 others(27): Show c.-1192_-1191insAAAGAAAGAAAGAGAA	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1069		chr14	TogoVar
ABHD12B_chr14_50867053_50909970	50870983	G G	GAAAGAAA others(9): Show GAAAGAAAGAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp1 HG02622.hp1 HG01358.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0003 a0001c0006t0001 a0001c0001t0003 a0001c0006t0001	a0001c0001t0003g0186 a0001c0006t0001g0295 a0001c0001t0003g0186 a0001c0006t0001g0295	2	376	0.0053	16	c.-11 others(27): Show c.-1192_-1191insAAAGAAAGAGAAAGAA	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1069		chr14	TogoVar

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