JoGo: Joint Open Genome and Omics Platform

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
EIF4G1_chr3_184309606_184340353	184319425	GGGTGTGT others(4): Show GGGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	384	0.0026	-11	c.425 others(26): Show c.425-262_425-252delGTGTGTGTGTG	EIF4G1	ENSG00000114867.22	transcript	ENST00000346169.7	protein_coding	6/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
EIF4G3_chr1_20801479_21181897	20852365	AAAGTATG others(4): Show AAAGTATGAGTT	A A	intron_variant intron_variant	MODIFIER	HG02717.hp1 NA19043.hp2 NA20300.hp1 HG02717.hp1 NA19043.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0042 a0001c0001t0007g0043 a0001c0001t0007g0044 a0001c0001t0007g0042 a0001c0001t0007g0043 a0001c0001t0007g0044	3	312	0.0096	-11	c.355 others(28): Show c.3552-898_3552-888delAACTCATACTT	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	27/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	20863378	TAAAAAAA others(4): Show TAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01516.hp1 HG01517.hp1 HG01167.hp1 HG01516.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0001 a0001c0011t0003 a0001c0001t0001 a0001c0011t0003	a0001c0001t0001g0017 a0001c0001t0001g0182 a0001c0011t0003g0247 a0001c0001t0001g0017 a0001c0001t0001g0182 a0001c0011t0003g0247	3	312	0.0096	-11	c.300 others(30): Show c.3007-1057_3007-1047delTTTTTTTTTTT	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	22/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	20876222	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02145.hp2 HG03209.hp2 HG01106.hp1 HG02145.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0021 a0001c0001t0001 a0001c0001t0021	a0001c0001t0001g0210 a0001c0001t0001g0215 a0001c0001t0021g0276 a0001c0001t0001g0210 a0001c0001t0001g0215 a0001c0001t0021g0276	3	312	0.0096	-11	c.262 others(30): Show c.2622+3090_2622+3100delTTTTTTTTTTT	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	20/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	20911560	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	312	0.0032	-11	c.166 others(30): Show c.1664-6600_1664-6590delTTTTTTTTTTT	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	14/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	20986744	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01256.hp2 HG01515.hp2 others(7): Show HG00280.hp1 HG01256.hp2 HG01515.hp2 HG01517.hp2 HG02129.hp1 HG03516.hp1 HG04199.hp2 NA20300.hp2 NA20752.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 others(2): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0015 a0001c0001t0022	a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 others(7): Show a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0045 a0001c0001t0005g0286 a0001c0001t0005g0287 a0001c0001t0006g0149 a0001c0001t0015g0308 a0001c0001t0015g0309 a0001c0001t0022g0299	10	312	0.0321	-11	c.178 others(28): Show c.178-4347_178-4337delTTTTTTTTTTT	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	7/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	21017627	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01517.hp2 HG04199.hp2 others(3): Show HG01515.hp2 HG01517.hp2 HG04199.hp2 NA18906.hp1 NA20300.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0015 a0001c0001t0022 a0001c0001t0005 a0001c0001t0015 a0001c0001t0022	a0001c0001t0005g0286 a0001c0001t0005g0287 a0001c0001t0005g0294 others(3): Show a0001c0001t0005g0286 a0001c0001t0005g0287 a0001c0001t0005g0294 a0001c0001t0015g0308 a0001c0001t0015g0309 a0001c0001t0022g0299	6	312	0.0192	-11	c.-66 others(30): Show c.-66-14830_-66-14820delTTTTTTTTTTT	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	4/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	21023228	TCCCTCCC others(4): Show TCCCTCCCCCTC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00423.hp2 others(81): Show HG00140.hp2 HG00280.hp2 HG00423.hp2 HG00544.hp1 HG00673.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01099.hp2 HG01106.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp2 HG01261.hp2 HG01517.hp1 HG01928.hp2 HG01975.hp1 HG02027.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp2 HG02155.hp1 HG02300.hp2 HG02523.hp1 HG02559.hp2 HG02630.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp2 HG02886.hp2 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03041.hp2 HG03195.hp2 HG03209.hp1 HG03239.hp2 HG03453.hp1 HG03490.hp2 HG03491.hp2 HG03516.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG04115.hp1 HG04204.hp1 NA18522.hp2 NA18939.hp2 NA18942.hp2 NA18947.hp1 NA18948.hp2 NA18949.hp2 NA18950.hp2 NA18952.hp1 NA18955.hp1 NA18957.hp1 NA18960.hp1 NA18962.hp2 NA18964.hp1 NA18980.hp1 NA18982.hp2 NA18988.hp1 NA19000.hp1 NA19004.hp2 NA19005.hp2 NA19009.hp2 NA19010.hp2 NA19030.hp1 NA19054.hp1 NA19056.hp1 NA19060.hp2 NA19064.hp1 NA19074.hp2 NA19077.hp2 NA19079.hp1 NA19087.hp1 NA19090.hp2 NA19091.hp1 NA20805.hp2 NA20905.hp1	a0001 a0003 a0006 others(1): Show a0001 a0003 a0006 a0007	a0001c0001 a0003c0005 a0006c0008 others(1): Show a0001c0001 a0003c0005 a0006c0008 a0007c0010	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0025 a0003c0005t0001 a0006c0008t0001 a0007c0010t0001	a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0017 others(81): Show a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0153 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0311 a0001c0001t0003g0240 a0001c0001t0003g0248 a0001c0001t0005g0281 a0001c0001t0006g0012 a0001c0001t0006g0149 a0001c0001t0006g0150 a0001c0001t0006g0151 a0001c0001t0006g0152 a0001c0001t0006g0154 a0001c0001t0006g0155 a0001c0001t0006g0164 a0001c0001t0006g0178 a0001c0001t0006g0193 a0001c0001t0008g0301 a0001c0001t0008g0303 a0001c0001t0008g0304 a0001c0001t0008g0305 a0001c0001t0010g0202 a0001c0001t0025g0302 a0003c0005t0001g0156 a0006c0008t0001g0184 a0007c0010t0001g0122	84	312	0.2692	-11	c.-66 others(30): Show c.-66-20431_-66-20421delGAGGGGGAGGG	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	4/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	21058719	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0241 a0001c0001t0003g0241	1	312	0.0032	-11	c.-19 others(30): Show c.-195-7736_-195-7726delAAAAAAAAAAA	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	3/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	21083037	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01069.hp2 HG01071.hp1 others(5): Show HG00639.hp1 HG01069.hp2 HG01071.hp1 HG02132.hp2 HG02647.hp1 HG02723.hp2 HG03486.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001	a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 others(5): Show a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0003g0241 a0001c0001t0003g0258 a0001c0002t0001g0110 a0001c0002t0001g0116	8	312	0.0256	-11	c.-19 others(30): Show c.-196+6090_-196+6100delTTTTTTTTTTT	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	3/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	21113146	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01516.hp2 HG04184.hp2 HG01074.hp2 HG01516.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0271 a0001c0001t0003g0272 a0001c0001t0003g0273 a0001c0001t0003g0271 a0001c0001t0003g0272 a0001c0001t0003g0273	3	312	0.0096	-11	c.-27 others(32): Show c.-271-23944_-271-23934delTTTTTTTTTTT	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	2/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	21117736	TAAAAAAA others(4): Show TAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0311 a0001c0001t0001g0311	1	312	0.0032	-11	c.-27 others(32): Show c.-271-28534_-271-28524delTTTTTTTTTTT	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	2/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	21170246	AAGCAGTA others(4): Show AAGCAGTATTCT	A A	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0092 a0001c0009t0002g0092	1	312	0.0032	-11	c.-27 others(30): Show c.-272+5918_-272+5928delAGAATACTGCT	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	2/36			chr1	TogoVar
EIF4H_chr7_74169356_74202096	74186788	ATTTTTTT others(4): Show ATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02809.hp1 HG02818.hp2 others(1): Show HG02486.hp2 HG02809.hp1 HG02818.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0038 a0001c0001t0002g0018 a0001c0001t0001g0038 a0001c0001t0002g0018	4	374	0.0107	-11	c.60- others(24): Show c.60-781_60-771delTTTTTTTTTTT	EIF4H	ENSG00000106682.16	transcript	ENST00000265753.13	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr7	TogoVar
EIF4H_chr7_74169356_74202096	74198321	GTTTTTGT others(4): Show GTTTTTGTTTTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	374	0.0027	-11	c.30 others(22): Show c.3014_*3024delTTTTTGTTTTT	EIF4H	ENSG00000106682.16	transcript	ENST00000265753.13	protein_coding		1226		chr7	TogoVar
EIF4H_chr7_74169356_74202096	74201186	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG02818.hp2 HG02970.hp2 others(6): Show HG01243.hp1 HG02818.hp2 HG02970.hp2 HG03516.hp2 HG03579.hp1 HG04199.hp2 NA18941.hp2 NA18994.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0031 a0001c0001t0001g0054 a0001c0001t0001g0202 others(5): Show a0001c0001t0001g0031 a0001c0001t0001g0054 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0219 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0003g0139	9	374	0.0241	-11	c.58 others(22): Show c.5879_*5889delTTTTTTTTTTT	EIF4H	ENSG00000106682.16	transcript	ENST00000265753.13	protein_coding		4091		chr7	TogoVar
EIF5A2_chr3_170883418_170913637	170902398	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01167.hp1 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0025 a0001c0001t0032g0025	2	394	0.0051	-11	c.270 others(28): Show c.270+4580_270+4590delAAAAAAAAAAA	EIF5A2	ENSG00000163577.8	transcript	ENST00000295822.7	protein_coding	3/4			chr3	TogoVar
EIF5B_chr2_99332389_99406326	99346589	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0017 a0001c0003t0017	a0001c0003t0017g0120 a0001c0003t0017g0120	1	342	0.0029	-11	c.35+ others(26): Show c.35+9017_35+9027delTTTTTTTTTTT	EIF5B	ENSG00000158417.12	transcript	ENST00000289371.11	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
EIF5B_chr2_99332389_99406326	99353005	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0241 a0002c0001t0002g0241	1	342	0.0029	-11	c.36- others(26): Show c.36-7214_36-7204delTTTTTTTTTTT	EIF5B	ENSG00000158417.12	transcript	ENST00000289371.11	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
EIPR1_chr2_3183970_3382818	3336825	AGGGAAGG others(4): Show AGGGAAGGGAAG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00408.hp2 others(33): Show HG00140.hp1 HG00140.hp2 HG00408.hp2 HG00544.hp1 HG00738.hp2 HG01099.hp1 HG01106.hp2 HG01192.hp1 HG01255.hp1 HG01256.hp1 HG01258.hp1 HG01346.hp1 HG01496.hp1 HG02615.hp1 HG02622.hp2 HG02717.hp1 HG02970.hp2 HG03017.hp1 HG03098.hp2 HG03209.hp2 HG03225.hp2 HG03516.hp1 HG03704.hp2 NA18906.hp2 NA18945.hp1 NA18952.hp2 NA18957.hp1 NA18969.hp1 NA18971.hp1 NA18995.hp1 NA19004.hp2 NA19005.hp1 NA19043.hp1 NA19091.hp1 NA19240.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0002t0005 a0001c0003t0001	a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0079 others(33): Show a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0210 a0001c0001t0001g0219 a0001c0001t0001g0227 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0192 a0001c0001t0002g0208 a0001c0001t0003g0091 a0001c0001t0003g0204 a0001c0001t0003g0217 a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0224 a0001c0001t0003g0225 a0001c0002t0001g0092 a0001c0002t0005g0078 a0001c0002t0005g0093 a0001c0002t0005g0094 a0001c0003t0001g0095 a0001c0003t0001g0193	36	250	0.1440	-11	c.259 others(28): Show c.259+1181_259+1191delCTTCCCTTCCC	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
ELAC1_chr18_50963040_50993121	50964666	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0216 a0001c0001t0002g0216	1	384	0.0026	-11	c.-34 others(22): Show c.-3456_-3446delAAAAAAAAAAA	ELAC1	ENSG00000141642.9	transcript	ENST00000269466.8	protein_coding		3373		chr18	TogoVar
ELAC2_chr17_12986612_13023027	12989101	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG01109.hp2 HG01257.hp2 others(2): Show HG00733.hp1 HG01109.hp2 HG01257.hp2 HG03239.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0020 a0001c0001t0002g0145 a0001c0001t0002g0236 a0001c0001t0002g0020 a0001c0001t0002g0145 a0001c0001t0002g0236	5	400	0.0125	-11	c.37 others(22): Show c.3706_*3716delTTTTTTTTTTT	ELAC2	ENSG00000006744.19	transcript	ENST00000338034.9	protein_coding		2510		chr17	TogoVar
ELAC2_chr17_12986612_13023027	13016745	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0009 a0009	a0009c0014 a0009c0014	a0009c0014t0001 a0009c0014t0001	a0009c0014t0001g0108 a0009c0014t0001g0108	1	400	0.0025	-11	c.367 others(26): Show c.367+106_367+116delTTTTTTTTTTT	ELAC2	ENSG00000006744.19	transcript	ENST00000338034.9	protein_coding	3/23			chr17	TogoVar
ELAC2_chr17_12986612_13023027	13022541	TTTCTTTC others(4): Show TTTCTTTCTCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0017 a0001c0001t0004g0017	1	400	0.0025	-11	c.-46 others(22): Show c.-4605_-4595delGAGAGAAAGAA	ELAC2	ENSG00000006744.19	transcript	ENST00000338034.9	protein_coding		4515		chr17	TogoVar
ELANE_chr19_847303_861243	849688	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp2 HG02055.hp1 HG02055.hp2 others(10): Show HG01978.hp2 HG02055.hp1 HG02055.hp2 HG02145.hp1 HG02257.hp1 HG02572.hp2 HG02630.hp1 HG02896.hp2 HG03130.hp1 HG03471.hp2 HG03486.hp1 NA19011.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0015 others(6): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0036 a0001c0001t0001g0063 a0001c0001t0001g0069 a0001c0001t0001g0074 a0001c0001t0001g0096	13	403	0.0323	-11	c.-26 others(22): Show c.-2640_-2630delTTTTTTTTTTT	ELANE	ENSG00000197561.7	transcript	ENST00000263621.2	protein_coding		2614		chr19	TogoVar
ELANE_chr19_847303_861243	850383	TGATGTTA others(4): Show TGATGTTAAGGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	403	0.0025	-11	c.-19 others(22): Show c.-1945_-1935delGATGTTAAGGC	ELANE	ENSG00000197561.7	transcript	ENST00000263621.2	protein_coding		1919		chr19	TogoVar
ELANE_chr19_847303_861243	856724	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG03834.hp2 NA18986.hp1 HG00323.hp1 HG03834.hp2 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0004 a0001c0002t0001g0014 a0001c0001t0001g0004 a0001c0002t0001g0014	3	403	0.0074	-11	c.56 others(20): Show c.561_*571delAAAAAAAAAAA	ELANE	ENSG00000197561.7	transcript	ENST00000263621.2	protein_coding		482		chr19	TogoVar
ELAPOR1_chr1_109109115_109211781	109113520	ACTCGGAT others(4): Show ACTCGGATCAAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp2 HG02257.hp1 HG02258.hp1 others(18): Show HG01934.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02622.hp1 HG02622.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02886.hp1 HG02895.hp2 HG02965.hp2 HG02970.hp2 HG03041.hp2 HG03098.hp1 HG03209.hp1 HG03471.hp1 NA18522.hp1 NA19240.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0013 a0001c0024 others(6): Show a0001c0001 a0001c0013 a0001c0024 a0001c0025 a0002c0003 a0002c0006 a0002c0015 a0002c0029 a0003c0004	a0001c0001t0001 a0001c0001t0013 a0001c0001t0021 others(12): Show a0001c0001t0001 a0001c0001t0013 a0001c0001t0021 a0001c0013t0001 a0001c0024t0001 a0001c0025t0037 a0002c0003t0011 a0002c0003t0026 a0002c0003t0039 a0002c0006t0001 a0002c0006t0011 a0002c0015t0017 a0002c0029t0013 a0003c0004t0018 a0003c0004t0028	a0001c0001t0001g0008 a0001c0001t0001g0101 a0001c0001t0001g0104 others(18): Show a0001c0001t0001g0008 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0110 a0001c0001t0001g0114 a0001c0001t0013g0103 a0001c0001t0021g0099 a0001c0001t0021g0107 a0001c0013t0001g0105 a0001c0013t0001g0106 a0001c0024t0001g0096 a0001c0025t0037g0102 a0002c0003t0011g0097 a0002c0003t0026g0109 a0002c0003t0039g0112 a0002c0006t0001g0111 a0002c0006t0011g0100 a0002c0015t0017g0113 a0002c0029t0013g0095 a0003c0004t0018g0108 a0003c0004t0028g0098	21	230	0.0913	-11	c.-66 others(20): Show c.-663_-653delCTCGGATCAAC	ELAPOR1	ENSG00000116299.17	transcript	ENST00000369939.8	protein_coding		594		chr1	TogoVar
ELAPOR1_chr1_109109115_109211781	109174413	TAAAAAAA others(4): Show TAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00738.hp1 others(20): Show HG00140.hp1 HG00140.hp2 HG00738.hp1 HG01070.hp1 HG01071.hp1 HG01106.hp2 HG01109.hp1 HG01255.hp1 HG01261.hp1 HG01433.hp2 HG01515.hp1 HG01517.hp1 HG01884.hp1 HG01891.hp1 HG01934.hp1 HG02615.hp1 HG02723.hp2 HG02922.hp2 HG02976.hp1 HG03516.hp1 HG06807.hp1 NA18960.hp1 NA20805.hp2	a0002 a0003 a0002 a0003	a0002c0003 a0002c0006 a0002c0009 others(5): Show a0002c0003 a0002c0006 a0002c0009 a0002c0014 a0002c0017 a0003c0004 a0003c0007 a0003c0034	a0002c0003t0003 a0002c0006t0001 a0002c0009t0003 others(5): Show a0002c0003t0003 a0002c0006t0001 a0002c0009t0003 a0002c0014t0012 a0002c0017t0012 a0003c0004t0004 a0003c0007t0004 a0003c0034t0032	a0002c0003t0003g0026 a0002c0006t0001g0009 a0002c0009t0003g0147 others(20): Show a0002c0003t0003g0026 a0002c0006t0001g0009 a0002c0009t0003g0147 a0002c0009t0003g0188 a0002c0009t0003g0222 a0002c0014t0012g0155 a0002c0017t0012g0021 a0002c0017t0012g0025 a0003c0004t0004g0017 a0003c0004t0004g0022 a0003c0004t0004g0024 a0003c0004t0004g0068 a0003c0004t0004g0071 a0003c0004t0004g0202 a0003c0004t0004g0207 a0003c0007t0004g0146 a0003c0007t0004g0150 a0003c0007t0004g0175 a0003c0007t0004g0186 a0003c0007t0004g0193 a0003c0007t0004g0194 a0003c0007t0004g0209 a0003c0034t0032g0165	23	230	0.1000	-11	c.952 others(26): Show c.952+601_952+611delAAAAAAAAAAA	ELAPOR1	ENSG00000116299.17	transcript	ENST00000369939.8	protein_coding	7/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
ELAPOR1_chr1_109109115_109211781	109175826	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0190 a0001c0002t0005g0190	1	230	0.0044	-11	c.952 others(28): Show c.952+2004_952+2014delAAAAAAAAAAA	ELAPOR1	ENSG00000116299.17	transcript	ENST00000369939.8	protein_coding	7/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
ELAPOR2_chr7_86871906_87064654	86916955	ATTTTTTT others(4): Show ATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	196	0.0051	-11	c.159 others(30): Show c.1593+1476_1593+1486delAAAAAAAAAAA	ELAPOR2	ENSG00000164659.15	transcript	ENST00000450689.7	protein_coding	12/21			chr7	TogoVar
ELAVL1_chr19_7953573_8010641	7972800	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01261.hp1 HG01928.hp1 others(4): Show HG00609.hp1 HG01261.hp1 HG01928.hp1 HG02135.hp2 HG03041.hp2 NA18961.hp2 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0012 a0001c0001t0007 a0001c0001t0012	a0001c0001t0007g0108 a0001c0001t0007g0155 a0001c0001t0007g0156 others(4): Show a0001c0001t0007g0108 a0001c0001t0007g0155 a0001c0001t0007g0156 a0001c0001t0007g0170 a0001c0001t0007g0195 a0001c0001t0012g0235 a0001c0001t0012g0236	7	276	0.0254	-11	c.430 others(26): Show c.430+914_430+924delAAAAAAAAAAA	ELAVL1	ENSG00000066044.15	transcript	ENST00000407627.7	protein_coding	4/5			chr19	TogoVar
ELAVL2_chr9_23685104_23831240	23699812	GTTTTTTT others(4): Show GTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02622.hp2 HG02258.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0011 a0001c0001t0010 a0001c0001t0011	a0001c0001t0010g0006 a0001c0001t0011g0007 a0001c0001t0010g0006 a0001c0001t0011g0007	2	352	0.0057	-11	c.713 others(28): Show c.713+1556_713+1566delAAAAAAAAAAA	ELAVL2	ENSG00000107105.15	transcript	ENST00000397312.7	protein_coding	5/6			chr9	TogoVar
ELAVL2_chr9_23685104_23831240	23779979	TAAAAAAA others(4): Show TAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp2 HG04204.hp1 others(1): Show HG00280.hp1 HG00438.hp2 HG04204.hp1 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0129 a0001c0001t0001g0135 a0001c0001t0001g0154 others(1): Show a0001c0001t0001g0129 a0001c0001t0001g0135 a0001c0001t0001g0154 a0001c0001t0003g0309	4	352	0.0114	-11	c.-15 others(30): Show c.-15-17741_-15-17731delTTTTTTTTTTT	ELAVL2	ENSG00000107105.15	transcript	ENST00000397312.7	protein_coding	1/6			chr9	TogoVar
ELF1_chr13_40926924_41024316	40934416	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	362	0.0028	-11	c.125 others(28): Show c.1257-399_1257-389delAAAAAAAAAAA	ELF1	ENSG00000120690.16	transcript	ENST00000239882.7	protein_coding	8/8			chr13	TogoVar
ELF1_chr13_40926924_41024316	40940386	GAAAAAAA others(4): Show GAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02630.hp2 NA18951.hp2 HG02145.hp1 HG02630.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0152 a0001c0001t0008g0073 a0001c0001t0008g0322 a0001c0001t0001g0152 a0001c0001t0008g0073 a0001c0001t0008g0322	3	362	0.0083	-11	c.125 others(28): Show c.1256+524_1256+534delTTTTTTTTTTT	ELF1	ENSG00000120690.16	transcript	ENST00000239882.7	protein_coding	8/8			chr13	TogoVar
ELF1_chr13_40926924_41024316	41000237	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02897.hp1 HG02622.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0275 a0001c0001t0001g0276	2	362	0.0055	-11	c.-22 others(32): Show c.-228-17966_-228-17956delAAAAAAAAAAA	ELF1	ENSG00000120690.16	transcript	ENST00000239882.7	protein_coding	1/8			chr13	TogoVar
ELF1_chr13_40926924_41024316	41016938	AAAAAAAA others(4): Show AAAAAAAAAAAT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0249 a0001c0003t0001g0249	1	362	0.0028	-11	c.-22 others(30): Show c.-229+2279_-229+2289delATTTTTTTTTT	ELF1	ENSG00000120690.16	transcript	ENST00000239882.7	protein_coding	1/8			chr13	TogoVar
ELF1_chr13_40926924_41024316	41016940	AAAAAAAA others(4): Show AAAAAAAAATAT	A A	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0341 a0001c0005t0003g0341	1	362	0.0028	-11	c.-22 others(30): Show c.-229+2277_-229+2287delATATTTTTTTT	ELF1	ENSG00000120690.16	transcript	ENST00000239882.7	protein_coding	1/8			chr13	TogoVar
ELF1_chr13_40926924_41024316	41016942	AAAAAAAT others(4): Show AAAAAAATATAT	A A	intron_variant intron_variant	MODIFIER	HG03834.hp2 NA18612.hp1 NA18950.hp1 others(3): Show HG03834.hp2 NA18612.hp1 NA18950.hp1 NA18960.hp1 NA19001.hp2 NA19004.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0343 a0001c0005t0003g0344 a0001c0005t0003g0345 others(3): Show a0001c0005t0003g0343 a0001c0005t0003g0344 a0001c0005t0003g0345 a0001c0005t0003g0346 a0001c0005t0003g0347 a0001c0005t0003g0348	6	362	0.0166	-11	c.-22 others(30): Show c.-229+2275_-229+2285delATATATTTTTT	ELF1	ENSG00000120690.16	transcript	ENST00000239882.7	protein_coding	1/8			chr13	TogoVar
ELF1_chr13_40926924_41024316	41016944	AAAAATAT others(4): Show AAAAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0340 a0001c0001t0001g0340	1	362	0.0028	-11	c.-22 others(30): Show c.-229+2273_-229+2283delATATATATTTT	ELF1	ENSG00000120690.16	transcript	ENST00000239882.7	protein_coding	1/8			chr13	TogoVar
ELF2_chr4_139052265_139182218	139121095	ATTTTTTT others(4): Show ATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02615.hp1 HG03139.hp1 others(12): Show HG00673.hp2 HG02615.hp1 HG03139.hp1 HG03471.hp2 HG03704.hp2 NA18612.hp1 NA18941.hp1 NA18961.hp2 NA18964.hp1 NA18979.hp1 NA18983.hp1 NA18986.hp1 NA18997.hp2 NA19005.hp1 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0031 a0001c0001t0001g0087 a0001c0001t0001g0088 others(12): Show a0001c0001t0001g0031 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0104 a0001c0001t0001g0329 a0001c0001t0002g0098 a0001c0001t0002g0102	15	342	0.0439	-11	c.238 others(28): Show c.238+4058_238+4068delAAAAAAAAAAA	ELF2	ENSG00000109381.21	transcript	ENST00000686138.1	protein_coding	4/9			chr4	TogoVar
ELF2_chr4_139052265_139182218	139151029	AAAAAAAG others(4): Show AAAAAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0037 a0001c0001t0002g0037	1	342	0.0029	-11	c.-25 others(32): Show c.-251-11543_-251-11533delCTTTCTTTTTT	ELF2	ENSG00000109381.21	transcript	ENST00000686138.1	protein_coding	1/9			chr4	TogoVar
ELF2_chr4_139052265_139182218	139151033	AAAGAAAG others(4): Show AAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02165.hp2 NA18963.hp1 NA19060.hp2 HG02165.hp2 NA18963.hp1 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0294 a0001c0001t0002g0314 a0001c0001t0002g0316 a0001c0001t0001g0294 a0001c0001t0002g0314 a0001c0001t0002g0316	3	342	0.0088	-11	c.-25 others(32): Show c.-251-11547_-251-11537delCTTTCTTTCTT	ELF2	ENSG00000109381.21	transcript	ENST00000686138.1	protein_coding	1/9			chr4	TogoVar
ELF2_chr4_139052265_139182218	139161652	TAAAAAAA others(4): Show TAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02896.hp2 HG02970.hp1 others(1): Show HG01243.hp1 HG02896.hp2 HG02970.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0080 a0001c0001t0001g0195 a0001c0001t0001g0219 others(1): Show a0001c0001t0001g0080 a0001c0001t0001g0195 a0001c0001t0001g0219 a0001c0001t0002g0197	4	342	0.0117	-11	c.-25 others(32): Show c.-252+15304_-252+15314delTTTTTTTTTTT	ELF2	ENSG00000109381.21	transcript	ENST00000686138.1	protein_coding	1/9			chr4	TogoVar
ELFN2_chr22_37362960_37432479	37382552	TTTTTTTT others(4): Show TTTTTTTTTTTA	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02258.hp2 HG02630.hp1 others(5): Show HG02145.hp2 HG02258.hp2 HG02630.hp1 HG02647.hp1 HG02896.hp2 HG02897.hp2 HG02976.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0009 a0001c0001t0027 a0001c0001t0064 others(2): Show a0001c0001t0009 a0001c0001t0027 a0001c0001t0064 a0001c0003t0001 a0001c0003t0070	a0001c0001t0009g0311 a0001c0001t0027g0204 a0001c0001t0027g0216 others(5): Show a0001c0001t0009g0311 a0001c0001t0027g0204 a0001c0001t0027g0216 a0001c0001t0064g0310 a0001c0003t0001g0177 a0001c0003t0001g0200 a0001c0003t0001g0201 a0001c0003t0070g0166	8	334	0.0240	-11	c.-46 others(30): Show c.-462-6567_-462-6557delTAAAAAAAAAA	ELFN2	ENSG00000166897.16	transcript	ENST00000402918.7	protein_coding	2/2			chr22	TogoVar
ELL2_chr5_95880098_95966851	95904067	TTAAATGC others(4): Show TTAAATGCAGTC	T T	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01168.hp1 HG01496.hp1 others(24): Show HG00609.hp1 HG01168.hp1 HG01496.hp1 HG01975.hp1 HG02258.hp2 HG02523.hp2 HG02647.hp1 HG03139.hp2 HG03209.hp1 HG03471.hp2 HG03491.hp2 HG03492.hp2 NA18941.hp1 NA18951.hp2 NA18957.hp1 NA18961.hp2 NA18966.hp2 NA18975.hp1 NA18981.hp1 NA18985.hp2 NA18989.hp1 NA19009.hp1 NA19011.hp2 NA19030.hp2 NA19063.hp1 NA19070.hp1 NA20129.hp1	a0001 a0001	a0001c0003 a0001c0006 a0001c0003 a0001c0006	a0001c0003t0004 a0001c0003t0005 a0001c0003t0024 others(2): Show a0001c0003t0004 a0001c0003t0005 a0001c0003t0024 a0001c0006t0004 a0001c0006t0011	a0001c0003t0004g0003 a0001c0003t0004g0004 a0001c0003t0004g0005 others(21): Show a0001c0003t0004g0003 a0001c0003t0004g0004 a0001c0003t0004g0005 a0001c0003t0004g0029 a0001c0003t0004g0033 a0001c0003t0004g0040 a0001c0003t0004g0041 a0001c0003t0004g0043 a0001c0003t0004g0044 a0001c0003t0004g0045 a0001c0003t0004g0046 a0001c0003t0005g0030 a0001c0003t0005g0031 a0001c0003t0005g0032 a0001c0003t0005g0034 a0001c0003t0005g0035 a0001c0003t0005g0036 a0001c0003t0005g0038 a0001c0003t0005g0039 a0001c0003t0024g0037 a0001c0006t0004g0042 a0001c0006t0004g0047 a0001c0006t0011g0027 a0001c0006t0011g0028	27	314	0.0860	-11	c.741 others(28): Show c.741+2445_741+2455delGACTGCATTTA	ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	5/11			chr5	TogoVar
ELL3_chr15_43767620_43781966	43778581	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02293.hp1 HG02293.hp2 HG02723.hp1 others(7): Show HG02293.hp1 HG02293.hp2 HG02723.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG03098.hp1 HG03540.hp1 HG03669.hp2 HG06807.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0001 a0001c0001t0001g0003 a0002c0002t0002g0002 a0001c0001t0001g0001 a0001c0001t0001g0003 a0002c0002t0002g0002	10	372	0.0269	-11	c.-16 others(22): Show c.-1691_-1681delTTTTTTTTTTT	ELL3	ENSG00000128886.12	transcript	ENST00000319359.8	protein_coding		1616		chr15	TogoVar
ELL_chr19_18437663_18527070	18482307	CCTTTTTT others(4): Show CCTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0143 a0002c0002t0001g0143	1	244	0.0041	-11	c.136 others(28): Show c.136-9436_136-9426delAAAAAAAAAAG	ELL	ENSG00000105656.13	transcript	ENST00000262809.9	protein_coding	1/11			chr19	TogoVar
ELMO1_chr7_36847906_37453864	37086743	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0020 a0001c0003t0002g0020	1	92	0.0109	-11	c.130 others(30): Show c.1300+9865_1300+9875delTTTTTTTTTTT	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	15/21			chr7	TogoVar

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