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
GARIN2_chr14_67184440_67228940	67197537	TGGTCCCC others(7): Show TGGTCCCCTTGGCAG	T T	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	332	0.0030	-14	c.-27 others(29): Show c.-27+181_-27+194delGGTCCCCTTGGCAG	GARIN2	ENSG00000172717.17	transcript	ENST00000696955.1	protein_coding	2/7			chr14	TogoVar
GARIN2_chr14_67184440_67228940	67225968	CGCGCGCG others(7): Show CGCGCGCGTGCGCAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02896.hp2 HG02897.hp2 HG02809.hp2 HG02896.hp2 HG02897.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0032 a0004c0008t0001g0195 a0004c0008t0001g0032 a0004c0008t0001g0195	3	332	0.0090	-14	c.21 others(25): Show c.2152_*2165delGCGCGCGTGCGCAT	GARIN2	ENSG00000172717.17	transcript	ENST00000696955.1	protein_coding		2029		chr14	TogoVar
GARNL3_chr9_127259774_127398660	127380200	ATGTGTGT others(7): Show ATGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18988.hp2 NA18973.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0167 a0001c0001t0001g0168	2	300	0.0067	-14	c.216 others(33): Show c.2162-3212_2162-3199delGTGTGTGTGTGTGT	GARNL3	ENSG00000136895.19	transcript	ENST00000373387.9	protein_coding	22/27		INFO_REALIGN_3_PRIME	chr9	TogoVar
GARRE1_chr19_34249554_34360566	34290874	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02809.hp2 HG02896.hp2 others(1): Show HG02258.hp1 HG02809.hp2 HG02896.hp2 HG02976.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0006 a0001c0003t0004 a0001c0003t0006	a0001c0003t0004g0070 a0001c0003t0004g0075 a0001c0003t0004g0077 others(1): Show a0001c0003t0004g0070 a0001c0003t0004g0075 a0001c0003t0004g0077 a0001c0003t0006g0150	4	326	0.0123	-14	c.-79 others(33): Show c.-795-8768_-795-8755delTTTTTTTTTTTTTT	GARRE1	ENSG00000166398.14	transcript	ENST00000299505.8	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
GARRE1_chr19_34249554_34360566	34356611	CAAAAAAG others(7): Show CAAAAAAGAAAAAGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	326	0.0031	-14	c.36 others(25): Show c.3657_*3670delAAAAAAGAAAAAGA	GARRE1	ENSG00000166398.14	transcript	ENST00000299505.8	protein_coding		1046		chr19	TogoVar
GART_chr21_33498933_33547117	33515604	CACTCCAG others(7): Show CACTCCAGTCTGGCG	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01884.hp1 HG01952.hp1 others(3): Show HG00741.hp1 HG01884.hp1 HG01952.hp1 HG02280.hp2 HG02809.hp1 HG03041.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0005 a0001c0001 a0006c0005	a0001c0001t0001 a0006c0005t0001 a0001c0001t0001 a0006c0005t0001	a0001c0001t0001g0294 a0001c0001t0001g0303 a0001c0001t0001g0304 others(1): Show a0001c0001t0001g0294 a0001c0001t0001g0303 a0001c0001t0001g0304 a0006c0005t0001g0013	6	384	0.0156	-14	c.210 others(33): Show c.2107+1371_2107+1384delCGCCAGACTGGAGT	GART	ENSG00000159131.17	transcript	ENST00000381815.9	protein_coding	16/21			chr21	TogoVar
GAS2L3_chr12_100568684_100633288	100569920	GACACAGA others(7): Show GACACAGACACACAC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0242 a0001c0002t0003g0242	1	402	0.0025	-14	c.-40 others(25): Show c.-4016_-4003delACACAGACACACAC	GAS2L3	ENSG00000139354.11	transcript	ENST00000547754.6	protein_coding		3763		chr12	TogoVar
GAS2L3_chr12_100568684_100633288	100569926	GACACACA others(7): Show GACACACACACACAC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02818.hp1 HG03453.hp2 HG02486.hp1 HG02818.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0113 a0001c0001t0010g0114 a0001c0001t0010g0115 a0001c0001t0010g0113 a0001c0001t0010g0114 a0001c0001t0010g0115	3	402	0.0075	-14	c.-40 others(25): Show c.-4010_-3997delACACACACACACAC	GAS2L3	ENSG00000139354.11	transcript	ENST00000547754.6	protein_coding		3757		chr12	TogoVar
GAS2L3_chr12_100568684_100633288	100622749	TAAAAAAA others(7): Show TAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0147 a0001c0001t0004g0147	1	402	0.0025	-14	c.756 others(29): Show c.756+387_756+400delAAAAAAAAAAAAAA	GAS2L3	ENSG00000139354.11	transcript	ENST00000547754.6	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
GAS2_chr11_22661611_22818001	22672064	CTATGACA others(7): Show CTATGACAGTGACTT	C C	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp1 HG01256.hp2 HG01258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0138 a0001c0002t0008g0139 a0001c0002t0008g0138 a0001c0002t0008g0139	2	272	0.0074	-14	c.-20 others(31): Show c.-20-2783_-20-2770delTGACAGTGACTTTA	GAS2	ENSG00000148935.12	transcript	ENST00000454584.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr11	TogoVar
GAS2_chr11_22661611_22818001	22686553	TAAAAAAA others(7): Show TAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00280.hp2 others(67): Show HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00408.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00621.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01258.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp2 HG01952.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02129.hp1 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02559.hp2 HG02602.hp2 HG02622.hp2 HG02976.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG04228.hp1 NA18522.hp1 NA18941.hp1 NA18941.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18951.hp1 NA18955.hp2 NA18957.hp1 NA18960.hp1 NA18969.hp1 NA18970.hp2 NA18988.hp1 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19011.hp2 NA19063.hp2 NA19068.hp1 NA19086.hp1 NA19240.hp2 NA20129.hp2 NA20752.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0012 a0001c0001t0014 a0001c0001t0019 a0001c0002t0001	a0001c0001t0001g0016 a0001c0001t0001g0056 a0001c0001t0001g0061 others(67): Show a0001c0001t0001g0016 a0001c0001t0001g0056 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0084 a0001c0001t0001g0144 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0181 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0194 a0001c0001t0002g0035 a0001c0001t0002g0067 a0001c0001t0002g0069 a0001c0001t0002g0080 a0001c0001t0002g0137 a0001c0001t0002g0152 a0001c0001t0002g0156 a0001c0001t0002g0169 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0180 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0249 a0001c0001t0003g0033 a0001c0001t0003g0037 a0001c0001t0003g0052 a0001c0001t0003g0054 a0001c0001t0003g0055 a0001c0001t0003g0057 a0001c0001t0003g0059 a0001c0001t0003g0063 a0001c0001t0003g0065 a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0003g0074 a0001c0001t0003g0086 a0001c0001t0003g0109 a0001c0001t0003g0172 a0001c0001t0003g0173 a0001c0001t0003g0174 a0001c0001t0003g0178 a0001c0001t0003g0179 a0001c0001t0003g0182 a0001c0001t0003g0186 a0001c0001t0003g0212 a0001c0001t0003g0243 a0001c0001t0004g0036 a0001c0001t0004g0053 a0001c0001t0004g0058 a0001c0001t0004g0064 a0001c0001t0004g0154 a0001c0001t0004g0263 a0001c0001t0005g0010 a0001c0001t0005g0019 a0001c0001t0005g0189 a0001c0001t0007g0060 a0001c0001t0007g0171 a0001c0001t0009g0079 a0001c0001t0012g0183 a0001c0001t0014g0175 a0001c0001t0019g0191 a0001c0002t0001g0095	70	272	0.2574	-14	c.267 others(29): Show c.267+799_267+812delAAAAAAAAAAAAAA	GAS2	ENSG00000148935.12	transcript	ENST00000454584.7	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr11	TogoVar
GAS2_chr11_22661611_22818001	22763616	TACACACA others(7): Show TACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0088 a0001c0002t0002g0088	1	272	0.0037	-14	c.723 others(31): Show c.723+7694_723+7707delACACACACACACAC	GAS2	ENSG00000148935.12	transcript	ENST00000454584.7	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr11	TogoVar
GAS7_chr17_9905606_10203606	9919969	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG03942.hp1 NA20300.hp2 HG01255.hp1 HG03942.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0012 a0001c0001t0042 a0001c0001t0002 a0001c0001t0012 a0001c0001t0042	a0001c0001t0002g0105 a0001c0001t0012g0022 a0001c0001t0042g0028 a0001c0001t0002g0105 a0001c0001t0012g0022 a0001c0001t0042g0028	3	218	0.0138	-14	c.113 others(31): Show c.1139-278_1139-265delCACACACACACACA	GAS7	ENSG00000007237.19	transcript	ENST00000432992.7	protein_coding	11/13			chr17	TogoVar
GAS7_chr17_9905606_10203606	9927290	TACACACA others(7): Show TACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03139.hp2 HG02622.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0009 a0001c0001t0006 a0001c0001t0009	a0001c0001t0006g0036 a0001c0001t0009g0042 a0001c0001t0006g0036 a0001c0001t0009g0042	2	218	0.0092	-14	c.886 others(29): Show c.886-535_886-522delGTGTGTGTGTGTGT	GAS7	ENSG00000007237.19	transcript	ENST00000432992.7	protein_coding	9/13			chr17	TogoVar
GAS7_chr17_9905606_10203606	9942881	TAATATGA others(7): Show TAATATGAAATCTAC	T T	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01243.hp1 HG01255.hp1 others(39): Show HG01167.hp1 HG01243.hp1 HG01255.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG02055.hp1 HG02109.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02886.hp2 HG02895.hp1 HG02922.hp1 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 NA18522.hp2 NA18977.hp1 NA18999.hp1 NA19043.hp1 NA19057.hp2 NA19240.hp2 NA20300.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0007 others(1): Show a0001c0001 a0001c0003 a0001c0007 a0002c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0016 a0001c0001t0033 a0001c0001t0036 a0001c0001t0038 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0059 a0001c0001t0061 a0001c0001t0063 a0001c0001t0065 a0001c0001t0071 a0001c0003t0019 a0001c0003t0024 a0001c0003t0035 a0001c0007t0012 a0002c0011t0041	a0001c0001t0001g0066 a0001c0001t0001g0088 a0001c0001t0001g0184 others(39): Show a0001c0001t0001g0066 a0001c0001t0001g0088 a0001c0001t0001g0184 a0001c0001t0002g0057 a0001c0001t0002g0118 a0001c0001t0002g0175 a0001c0001t0003g0044 a0001c0001t0003g0121 a0001c0001t0003g0138 a0001c0001t0004g0089 a0001c0001t0004g0204 a0001c0001t0006g0036 a0001c0001t0006g0110 a0001c0001t0007g0003 a0001c0001t0007g0010 a0001c0001t0007g0016 a0001c0001t0007g0021 a0001c0001t0009g0037 a0001c0001t0009g0042 a0001c0001t0009g0056 a0001c0001t0009g0135 a0001c0001t0010g0020 a0001c0001t0011g0008 a0001c0001t0012g0022 a0001c0001t0016g0159 a0001c0001t0033g0023 a0001c0001t0036g0018 a0001c0001t0038g0024 a0001c0001t0042g0028 a0001c0001t0043g0160 a0001c0001t0044g0154 a0001c0001t0045g0069 a0001c0001t0059g0151 a0001c0001t0061g0035 a0001c0001t0063g0091 a0001c0001t0065g0142 a0001c0001t0071g0218 a0001c0003t0019g0158 a0001c0003t0024g0075 a0001c0003t0035g0011 a0001c0007t0012g0015 a0002c0011t0041g0026	42	218	0.1927	-14	c.731 others(29): Show c.731+226_731+239delGTAGATTTCATATT	GAS7	ENSG00000007237.19	transcript	ENST00000432992.7	protein_coding	7/13			chr17	TogoVar
GAS7_chr17_9905606_10203606	10049609	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0187 a0001c0001t0002g0187	1	218	0.0046	-14	c.184 others(33): Show c.184-29726_184-29713delAAAAAAAAAAAAAA	GAS7	ENSG00000007237.19	transcript	ENST00000432992.7	protein_coding	1/13			chr17	TogoVar
GAS7_chr17_9905606_10203606	10114696	CCACACAC others(7): Show CCACACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02976.hp2 HG03453.hp2 others(2): Show HG02451.hp1 HG02976.hp2 HG03453.hp2 NA20129.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0010 a0001c0001 a0001c0002 a0001c0010	a0001c0001t0002 a0001c0001t0009 a0001c0001t0010 others(2): Show a0001c0001t0002 a0001c0001t0009 a0001c0001t0010 a0001c0002t0039 a0001c0010t0028	a0001c0001t0002g0118 a0001c0001t0009g0056 a0001c0001t0010g0020 others(2): Show a0001c0001t0002g0118 a0001c0001t0009g0056 a0001c0001t0010g0020 a0001c0002t0039g0001 a0001c0010t0028g0169	5	218	0.0229	-14	c.183 others(33): Show c.183+83498_183+83511delTGTGTGTGTGTGTG	GAS7	ENSG00000007237.19	transcript	ENST00000432992.7	protein_coding	1/13			chr17	TogoVar
GAS8_chr16_90017680_90049960	90047936	GGGACCGC others(7): Show GGGACCGCGGTGAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0012 a0005c0009t0012	a0005c0009t0012g0014 a0005c0009t0012g0014	1	390	0.0026	-14	c.45 others(25): Show c.4592_*4605delGGACCGCGGTGAGA	GAS8	ENSG00000141013.17	transcript	ENST00000268699.9	protein_coding		2977		chr16	TogoVar
GASK1A_chr3_42974311_43062715	42985546	CGTGTGTG others(7): Show CGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0102 a0003c0003t0002g0102	1	342	0.0029	-14	c.3+5 others(27): Show c.3+5929_3+5942delTGTGTGTGTGTGTG	GASK1A	ENSG00000144649.10	transcript	ENST00000430121.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
GASK1A_chr3_42974311_43062715	43019757	AACACACA others(7): Show AACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03669.hp1 HG02109.hp2 HG03669.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0015 a0002c0006t0015	a0002c0006t0015g0280 a0002c0006t0015g0281 a0002c0006t0015g0280 a0002c0006t0015g0281	2	342	0.0059	-14	c.4-1 others(29): Show c.4-12491_4-12478delACACACACACACAC	GASK1A	ENSG00000144649.10	transcript	ENST00000430121.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
GATA2_chr3_128474427_128493530	128475179	CAGAGTTT others(7): Show CAGAGTTTTGATCGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	434	0.0023	-14	c.58 others(25): Show c.5826_*5839delTCGATCAAAACTCT	GATA2	ENSG00000179348.13	transcript	ENST00000487848.6	protein_coding		4247		chr3	TogoVar
GATA2_chr3_128474427_128498201	128475179	CAGAGTTT others(7): Show CAGAGTTTTGATCGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	430	0.0023	-14	c.58 others(25): Show c.5826_*5839delTCGATCAAAACTCT	GATA2	ENSG00000179348.13	transcript	ENST00000341105.7	protein_coding		4247		chr3	TogoVar
GATA4_chr8_11699202_11765002	11712447	TTAAGTGC others(7): Show TTAAGTGCTGCCAGC	T T	intron_variant intron_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	340	0.0029	-14	c.616 others(31): Show c.616+3521_616+3534delAAGTGCTGCCAGCT	GATA4	ENSG00000136574.19	transcript	ENST00000532059.6	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr8	TogoVar
GATA5_chr20_62458497_62480995	62459859	CTGTTTTT others(7): Show CTGTTTTTTTCTGAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0002 a0001c0001t0004g0002	1	382	0.0026	-14	c.49 others(25): Show c.4963_*4976delCTCAGAAAAAAACA	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		3637		chr20	TogoVar
GATA5_chr20_62458497_62480995	62460909	TAAATTAA others(7): Show TAAATTAAGGGCTTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0002 a0001c0001t0004g0002	1	382	0.0026	-14	c.39 others(25): Show c.3913_*3926delCAAGCCCTTAATTT	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		2587		chr20	TogoVar
GATA6_chr18_22164589_22207528	22169336	TCCCCTCC others(7): Show TCCCCTCCCCCCTCG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	286	0.0035	-14	c.-38 others(23): Show c.-383_-370delCCCCTCCCCCCTCG	GATA6	ENSG00000141448.11	transcript	ENST00000269216.10	protein_coding		252		chr18	TogoVar
GATA6_chr18_22164589_22207528	22191032	CGTGTGTG others(7): Show CGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02055.hp2 HG02451.hp1 others(4): Show HG01952.hp1 HG02055.hp2 HG02451.hp1 HG02647.hp1 HG02922.hp1 NA19030.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 others(4): Show a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0230	7	286	0.0245	-14	c.162 others(33): Show c.1620+8017_1620+8030delTGTGTGTGTGTGTG	GATA6	ENSG00000141448.11	transcript	ENST00000269216.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
GATAD2A_chr19_19400675_19513932	19430976	GGTGTGTG others(7): Show GGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02155.hp2 HG03017.hp2 others(7): Show HG02056.hp2 HG02155.hp2 HG03017.hp2 HG03942.hp1 HG04204.hp1 NA18952.hp2 NA18980.hp1 NA18985.hp2 NA19005.hp1 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0011 a0001c0002t0012 a0001c0002t0001 a0001c0002t0011 a0001c0002t0012	a0001c0002t0001g0110 a0001c0002t0001g0116 a0001c0002t0001g0118 others(7): Show a0001c0002t0001g0110 a0001c0002t0001g0116 a0001c0002t0001g0118 a0001c0002t0001g0119 a0001c0002t0011g0112 a0001c0002t0011g0113 a0001c0002t0012g0109 a0001c0002t0012g0114 a0001c0002t0012g0115 a0001c0002t0012g0117	10	298	0.0336	-14	c.-7+ others(31): Show c.-7+24986_-7+24999delGTGTGTGTGTGTGT	GATAD2A	ENSG00000167491.18	transcript	ENST00000683918.1	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
GATAD2A_chr19_19400675_19513932	19440951	TCCTTTTC others(7): Show TCCTTTTCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02145.hp2 HG02559.hp2 others(6): Show HG02109.hp2 HG02145.hp2 HG02559.hp2 HG02572.hp1 HG03195.hp1 HG04199.hp1 NA18945.hp2 NA18950.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0013 others(3): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0013 a0001c0001t0014 a0001c0001t0017 a0001c0001t0022	a0001c0001t0002g0124 a0001c0001t0006g0037 a0001c0001t0013g0006 others(6): Show a0001c0001t0002g0124 a0001c0001t0006g0037 a0001c0001t0013g0006 a0001c0001t0013g0008 a0001c0001t0014g0080 a0001c0001t0017g0085 a0001c0001t0017g0086 a0001c0001t0017g0087 a0001c0001t0022g0089	9	298	0.0302	-14	c.-6- others(31): Show c.-6-24383_-6-24370delTCTTCCTTCCCTTT	GATAD2A	ENSG00000167491.18	transcript	ENST00000683918.1	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
GATAD2B_chr1_153799725_153927972	153876227	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0086 a0001c0001t0003g0086	1	349	0.0029	-14	c.-2+ others(31): Show c.-2+46492_-2+46505delTTTTTTTTTTTTTT	GATAD2B	ENSG00000143614.11	transcript	ENST00000368655.5	protein_coding	1/10			chr1	TogoVar
GATAD2B_chr1_153799725_153927972	153916494	ATGTTGGA others(7): Show ATGTTGGAAATGTTG	A A	intron_variant intron_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0322 a0001c0001t0001g0322	1	349	0.0029	-14	c.-2+ others(29): Show c.-2+6225_-2+6238delCAACATTTCCAACA	GATAD2B	ENSG00000143614.11	transcript	ENST00000368655.5	protein_coding	1/10			chr1	TogoVar
GATAD2B_chr1_153799725_153927972	153927589	TTTTGTGT others(7): Show TTTTGTGTGTGTGTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0206 a0001c0001t0013g0206	1	349	0.0029	-14	c.-48 others(25): Show c.-4872_-4859delCACACACACACAAA	GATAD2B	ENSG00000143614.11	transcript	ENST00000368655.5	protein_coding		4618		chr1	TogoVar
GATAD2B_chr1_153799725_153927972	153927591	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG01975.hp1 HG01978.hp1 others(4): Show HG01243.hp1 HG01975.hp1 HG01978.hp1 HG01978.hp2 NA18522.hp2 NA18957.hp1 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0046 a0001c0001t0063	a0001c0001t0001g0265 a0001c0001t0001g0299 a0001c0001t0003g0014 others(4): Show a0001c0001t0001g0265 a0001c0001t0001g0299 a0001c0001t0003g0014 a0001c0001t0003g0138 a0001c0001t0007g0308 a0001c0001t0046g0316 a0001c0001t0063g0153	7	349	0.0201	-14	c.-48 others(25): Show c.-4874_-4861delCACACACACACACA	GATAD2B	ENSG00000143614.11	transcript	ENST00000368655.5	protein_coding		4620		chr1	TogoVar
GATB_chr4_151665504_151766007	151676530	AGGCTTGG others(7): Show AGGCTTGGGAATCCT	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00597.hp1 HG01433.hp1 others(28): Show HG00558.hp1 HG00597.hp1 HG01433.hp1 HG01975.hp1 HG01978.hp2 HG02148.hp1 HG03927.hp2 NA18941.hp2 NA18944.hp1 NA18945.hp2 NA18948.hp1 NA18957.hp1 NA18960.hp2 NA18961.hp1 NA18963.hp2 NA18964.hp1 NA18969.hp2 NA18971.hp1 NA18973.hp2 NA18978.hp1 NA18990.hp2 NA18999.hp2 NA19007.hp1 NA19057.hp1 NA19060.hp1 NA19064.hp2 NA19067.hp2 NA19079.hp1 NA19085.hp1 NA19087.hp2 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 others(28): Show a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0292 a0001c0003t0001g0145 a0001c0003t0001g0161 a0001c0003t0001g0162	31	320	0.0969	-14	c.141 others(33): Show c.1410+3269_1410+3282delAGGATTCCCAAGCC	GATB	ENSG00000059691.12	transcript	ENST00000263985.11	protein_coding	11/12			chr4	TogoVar
GATB_chr4_151665504_151766007	151697943	GTGTGTGT others(7): Show GTGTGTGTGTGTATA	G G	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02896.hp1 HG02897.hp2 others(1): Show HG02818.hp2 HG02896.hp1 HG02897.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 others(1): Show a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309	4	320	0.0125	-14	c.119 others(33): Show c.1197+3372_1197+3385delTATACACACACACA	GATB	ENSG00000059691.12	transcript	ENST00000263985.11	protein_coding	9/12			chr4	TogoVar
GATB_chr4_151665504_151766007	151697949	GTGTGTAT others(7): Show GTGTGTATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	320	0.0031	-14	c.119 others(33): Show c.1197+3366_1197+3379delTATATATATACACA	GATB	ENSG00000059691.12	transcript	ENST00000263985.11	protein_coding	9/12			chr4	TogoVar
GATC_chr12_120441444_120468749	120441971	ATTATTAT others(7): Show ATTATTATTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0004 a0001c0001t0003g0004	1	408	0.0025	-14	c.-45 others(25): Show c.-4509_-4496delTTATTATTTTTTTT	GATC	ENSG00000257218.6	transcript	ENST00000551765.6	protein_coding		4472		chr12	TogoVar
GATC_chr12_120441444_120468749	120441974	ATTATTTT others(7): Show ATTATTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG02015.hp1 HG02027.hp1 others(12): Show HG00408.hp1 HG02015.hp1 HG02027.hp1 HG02129.hp2 HG02135.hp2 NA18612.hp1 NA18747.hp2 NA18941.hp1 NA18946.hp1 NA18959.hp2 NA18961.hp1 NA18967.hp2 NA19079.hp1 NA19081.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0022 a0001c0001t0003 a0001c0001t0007 a0001c0001t0022	a0001c0001t0003g0004 a0001c0001t0003g0009 a0001c0001t0003g0035 others(6): Show a0001c0001t0003g0004 a0001c0001t0003g0009 a0001c0001t0003g0035 a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0071 a0001c0001t0003g0118 a0001c0001t0007g0069 a0001c0001t0022g0067	15	408	0.0368	-14	c.-45 others(25): Show c.-4506_-4493delTTATTTTTTTTTTT	GATC	ENSG00000257218.6	transcript	ENST00000551765.6	protein_coding		4469		chr12	TogoVar
GATC_chr12_120441444_120468749	120441977	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp2 HG01975.hp1 HG01993.hp1 others(25): Show HG00673.hp2 HG01975.hp1 HG01993.hp1 HG02155.hp2 HG02300.hp1 HG02451.hp1 HG02486.hp2 HG02523.hp2 HG02698.hp1 HG02738.hp2 HG02818.hp2 HG02922.hp2 HG02970.hp1 HG03130.hp2 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03579.hp2 NA18941.hp2 NA18948.hp2 NA18965.hp2 NA18986.hp2 NA18999.hp2 NA19000.hp2 NA19043.hp2 NA19065.hp1 NA19077.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0023 others(1): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0023 a0001c0001t0029	a0001c0001t0003g0004 a0001c0001t0003g0017 a0001c0001t0003g0035 others(15): Show a0001c0001t0003g0004 a0001c0001t0003g0017 a0001c0001t0003g0035 a0001c0001t0003g0054 a0001c0001t0003g0068 a0001c0001t0003g0070 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0132 a0001c0001t0007g0004 a0001c0001t0007g0048 a0001c0001t0007g0065 a0001c0001t0007g0066 a0001c0001t0007g0091 a0001c0001t0007g0155 a0001c0001t0007g0156 a0001c0001t0023g0030 a0001c0001t0029g0090	28	408	0.0686	-14	c.-45 others(25): Show c.-4503_-4490delTTTTTTTTTTTTTT	GATC	ENSG00000257218.6	transcript	ENST00000551765.6	protein_coding		4466		chr12	TogoVar
GATD1_chr11_762222_782487	773097	TGTCCACC others(7): Show TGTCCACCCCGGCCA	T T	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0063 a0001c0001t0063	a0001c0001t0063g0138 a0001c0001t0063g0138	1	430	0.0023	-14	c.355 others(29): Show c.355+411_355+424delTGGCCGGGGTGGAC	GATD1	ENSG00000177225.17	transcript	ENST00000319863.13	protein_coding	4/7			chr11	TogoVar
GBE1_chr3_81484703_81766645	81547625	TTCTCTCT others(7): Show TTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01891.hp2 HG02723.hp2 others(2): Show HG01099.hp2 HG01891.hp2 HG02723.hp2 HG03225.hp1 NA19064.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0002c0002t0007 a0001c0001t0002 a0002c0002t0001 a0002c0002t0007	a0001c0001t0002g0251 a0002c0002t0001g0058 a0002c0002t0001g0116 others(2): Show a0001c0001t0002g0251 a0002c0002t0001g0058 a0002c0002t0001g0116 a0002c0002t0007g0296 a0002c0002t0007g0304	5	304	0.0165	-14	c.161 others(35): Show c.1619-10544_1619-10531delGAGAGAGAGAGAGA	GBE1	ENSG00000114480.13	transcript	ENST00000429644.7	protein_coding	12/15			chr3	TogoVar
GBE1_chr3_81484703_81766645	81556901	ATGTCACT others(7): Show ATGTCACTTACAATG	A A	intron_variant intron_variant	MODIFIER	HG02818.hp2 NA18522.hp2 HG02818.hp2 NA18522.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0007 a0001c0004t0001 a0001c0004t0007	a0001c0004t0001g0007 a0001c0004t0007g0301 a0001c0004t0001g0007 a0001c0004t0007g0301	2	304	0.0066	-14	c.161 others(35): Show c.1619-19820_1619-19807delCATTGTAAGTGACA	GBE1	ENSG00000114480.13	transcript	ENST00000429644.7	protein_coding	12/15			chr3	TogoVar
GBE1_chr3_81484703_81766645	81628742	CATATATA others(7): Show CATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00597.hp2 HG00733.hp1 others(26): Show HG00423.hp1 HG00597.hp2 HG00733.hp1 HG01255.hp1 HG01257.hp1 HG01496.hp2 HG01516.hp1 HG02056.hp2 HG02572.hp2 HG02615.hp2 HG02630.hp1 HG02717.hp2 HG02818.hp2 HG03017.hp2 HG03486.hp1 HG03688.hp2 HG06807.hp2 NA18747.hp1 NA18948.hp1 NA18950.hp2 NA18952.hp2 NA18955.hp1 NA18959.hp1 NA18982.hp1 NA18983.hp2 NA18989.hp2 NA18995.hp2 NA19068.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0001t0005 a0001c0001t0018 others(1): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0018 a0001c0004t0001	a0001c0001t0002g0138 a0001c0001t0002g0163 a0001c0001t0005g0261 others(26): Show a0001c0001t0002g0138 a0001c0001t0002g0163 a0001c0001t0005g0261 a0001c0001t0005g0262 a0001c0001t0005g0263 a0001c0001t0005g0264 a0001c0001t0005g0270 a0001c0001t0005g0271 a0001c0001t0005g0272 a0001c0001t0005g0273 a0001c0001t0005g0274 a0001c0001t0005g0275 a0001c0001t0005g0276 a0001c0001t0005g0278 a0001c0001t0005g0281 a0001c0001t0005g0282 a0001c0001t0005g0283 a0001c0001t0005g0284 a0001c0001t0005g0285 a0001c0001t0005g0286 a0001c0001t0005g0287 a0001c0001t0005g0289 a0001c0001t0005g0290 a0001c0001t0005g0291 a0001c0001t0005g0292 a0001c0001t0005g0293 a0001c0001t0005g0294 a0001c0001t0018g0269 a0001c0004t0001g0007	29	304	0.0954	-14	c.992 others(33): Show c.992+14025_992+14038delATATATATATATAT	GBE1	ENSG00000114480.13	transcript	ENST00000429644.7	protein_coding	7/15			chr3	TogoVar
GBE1_chr3_81484703_81766645	81702100	AGAGTGTG others(7): Show AGAGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG03579.hp2 HG01175.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0195 a0001c0001t0003g0137 a0001c0001t0002g0195 a0001c0001t0003g0137	2	304	0.0066	-14	c.313 others(31): Show c.313+3330_313+3343delACACACACACACTC	GBE1	ENSG00000114480.13	transcript	ENST00000429644.7	protein_coding	2/15			chr3	TogoVar
GBE1_chr3_81484703_81766645	81702102	AGTGTGTG others(7): Show AGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00558.hp1 others(45): Show HG00280.hp1 HG00408.hp1 HG00558.hp1 HG00609.hp1 HG01099.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01346.hp1 HG01361.hp2 HG01433.hp2 HG01515.hp1 HG01928.hp2 HG01978.hp1 HG01993.hp1 HG02083.hp1 HG02148.hp2 HG02165.hp1 HG02273.hp2 HG02300.hp1 HG02622.hp2 HG02647.hp1 HG02683.hp1 HG02698.hp2 HG02738.hp2 HG02970.hp2 HG03195.hp2 HG03654.hp2 NA18943.hp1 NA18950.hp1 NA18959.hp2 NA18967.hp1 NA18969.hp2 NA18988.hp1 NA18990.hp2 NA18993.hp1 NA18998.hp2 NA19009.hp1 NA19030.hp2 NA19060.hp2 NA19064.hp1 NA19074.hp2 NA19086.hp2 NA19087.hp1 NA20129.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0008	a0001c0001 a0001c0006 a0002c0002 others(4): Show a0001c0001 a0001c0006 a0002c0002 a0003c0003 a0003c0012 a0006c0014 a0008c0015	a0001c0001t0002 a0001c0006t0002 a0002c0002t0001 others(5): Show a0001c0001t0002 a0001c0006t0002 a0002c0002t0001 a0002c0002t0006 a0003c0003t0004 a0003c0012t0012 a0006c0014t0004 a0008c0015t0001	a0001c0001t0002g0135 a0001c0006t0002g0199 a0001c0006t0002g0200 others(45): Show a0001c0001t0002g0135 a0001c0006t0002g0199 a0001c0006t0002g0200 a0001c0006t0002g0201 a0002c0002t0001g0049 a0002c0002t0001g0051 a0002c0002t0001g0054 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0067 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0081 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0087 a0002c0002t0001g0090 a0002c0002t0001g0091 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0002t0001g0094 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0001g0112 a0002c0002t0001g0116 a0002c0002t0001g0117 a0002c0002t0001g0118 a0002c0002t0001g0120 a0002c0002t0001g0125 a0002c0002t0006g0099 a0003c0003t0004g0046 a0003c0012t0012g0198 a0006c0014t0004g0089 a0008c0015t0001g0088	48	304	0.1579	-14	c.313 others(31): Show c.313+3328_313+3341delACACACACACACAC	GBE1	ENSG00000114480.13	transcript	ENST00000429644.7	protein_coding	2/15			chr3	TogoVar
GBE1_chr3_81484703_81766645	81737365	ATTTATAT others(7): Show ATTTATATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0106 a0002c0002t0001g0106	1	304	0.0033	-14	c.143 others(33): Show c.143+23996_143+24009delAAAATATATATAAA	GBE1	ENSG00000114480.13	transcript	ENST00000429644.7	protein_coding	1/15			chr3	TogoVar
GBE1_chr3_81484703_81766645	81750525	ATATATAT others(7): Show ATATATATATATACG	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03195.hp2 NA19030.hp2 others(1): Show HG02622.hp2 HG03195.hp2 NA19030.hp2 NA20129.hp1	a0001 a0003 a0001 a0003	a0001c0006 a0003c0012 a0001c0006 a0003c0012	a0001c0006t0002 a0003c0012t0012 a0001c0006t0002 a0003c0012t0012	a0001c0006t0002g0199 a0001c0006t0002g0200 a0001c0006t0002g0201 others(1): Show a0001c0006t0002g0199 a0001c0006t0002g0200 a0001c0006t0002g0201 a0003c0012t0012g0198	4	304	0.0132	-14	c.143 others(33): Show c.143+10836_143+10849delCGTATATATATATA	GBE1	ENSG00000114480.13	transcript	ENST00000429644.7	protein_coding	1/15			chr3	TogoVar
GBF1_chr10_102240532_102387896	102251963	TCAGGAGT others(7): Show TCAGGAGTTTGAGAC	T T	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0153 a0001c0001t0005g0153	1	330	0.0030	-14	c.-11 others(31): Show c.-11+6200_-11+6213delGAGTTTGAGACCAG	GBF1	ENSG00000107862.7	transcript	ENST00000369983.5	protein_coding	1/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
GBF1_chr10_102240532_102387896	102261235	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01081.hp1 HG01109.hp1 others(24): Show HG01070.hp2 HG01081.hp1 HG01109.hp1 HG01516.hp2 HG02055.hp1 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02451.hp2 HG02559.hp2 HG02647.hp2 HG02698.hp2 HG02738.hp2 HG02818.hp1 HG02895.hp1 HG02896.hp2 HG02970.hp1 HG02976.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03225.hp2 HG03486.hp1 HG03669.hp1 NA19043.hp1 NA19043.hp2	a0001 a0013 a0001 a0013	a0001c0001 a0001c0003 a0001c0024 others(1): Show a0001c0001 a0001c0003 a0001c0024 a0013c0009	a0001c0001t0001 a0001c0003t0001 a0001c0024t0001 others(1): Show a0001c0001t0001 a0001c0003t0001 a0001c0024t0001 a0013c0009t0001	a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0208 others(24): Show a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0003t0001g0109 a0001c0003t0001g0207 a0001c0003t0001g0210 a0001c0003t0001g0211 a0001c0003t0001g0212 a0001c0003t0001g0222 a0001c0003t0001g0225 a0001c0003t0001g0226 a0001c0003t0001g0227 a0001c0003t0001g0228 a0001c0003t0001g0323 a0001c0024t0001g0229 a0013c0009t0001g0217	27	330	0.0818	-14	c.163 others(31): Show c.163+1129_163+1142delGTGTGTGTGTGTGT	GBF1	ENSG00000107862.7	transcript	ENST00000369983.5	protein_coding	3/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
GBF1_chr10_102240532_102387896	102293764	GTTTTGTG others(7): Show GTTTTGTGTTTTTTT	G G	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18957.hp2 NA18949.hp2 NA18957.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0195 a0004c0008t0001g0200 a0004c0008t0001g0195 a0004c0008t0001g0200	2	330	0.0061	-14	c.163 others(33): Show c.163+33653_163+33666delGTGTTTTTTTTTTT	GBF1	ENSG00000107862.7	transcript	ENST00000369983.5	protein_coding	3/39		INFO_REALIGN_3_PRIME	chr10	TogoVar

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