Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ELOVL6_chr4_110040846_110203615	110117903	A A	AAATATAT others(18): Show AAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0216 a0001c0001t0026g0216	1	338	0.0030	25	c.90- others(42): Show c.90-12276_90-12275insATATATATATATATATATATATATT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3			chr4	TogoVar
ELOVL7_chr5_60746791_60849269	60819099	G G	GGGAGGGG others(18): Show GGGAGGGGAGGGGAGGGGAGAGGAGA	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0239 a0001c0001t0002g0239	1	258	0.0039	25	c.-85 others(44): Show c.-85-19870_-85-19869insTCTCCTCTCCCCTCCCCTCCCCTCC	ELOVL7	ENSG00000164181.14	transcript	ENST00000508821.6	protein_coding	1/8			chr5	TogoVar
ELOVL7_chr5_60746791_60849269	60819099	G G	GGGAGGGG others(18): Show GGGAGGGGAGGGGAGGGGAGGGGAGA	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0240 a0001c0001t0002g0240	1	258	0.0039	25	c.-85 others(44): Show c.-85-19870_-85-19869insTCTCCCCTCCCCTCCCCTCCCCTCC	ELOVL7	ENSG00000164181.14	transcript	ENST00000508821.6	protein_coding	1/8			chr5	TogoVar
ELSPBP1_chr19_47989632_48030154	48028497	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0017 a0017	a0017c0021 a0017c0021	a0017c0021t0002 a0017c0021t0002	a0017c0021t0002g0254 a0017c0021t0002g0254	1	388	0.0026	25	c.35 others(36): Show c.3553_*3554insTTTTTTTTTTTTTTTTTTTTTTTTT	ELSPBP1	ENSG00000169393.10	transcript	ENST00000339841.7	protein_coding		3344		chr19	TogoVar
EML4_chr2_42164353_42337548	42245094	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01192.hp2 HG02055.hp1 others(4): Show HG00741.hp1 HG01192.hp2 HG02055.hp1 HG02572.hp1 HG03130.hp2 HG04115.hp2 NA19054.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 others(1): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0003c0003t0004	a0001c0001t0003g0128 a0001c0001t0005g0315 a0001c0001t0005g0321 others(4): Show a0001c0001t0003g0128 a0001c0001t0005g0315 a0001c0001t0005g0321 a0001c0001t0005g0331 a0001c0001t0005g0340 a0001c0001t0006g0343 a0003c0003t0004g0276	7	358	0.0196	25	c.26- others(38): Show c.26-393_26-392insTTTTTTTTTTTTTTTTTTTTTTTTT	EML4	ENSG00000143924.19	transcript	ENST00000318522.10	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML4_chr2_42164353_42337548	42306484	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA19054.hp2 NA18943.hp2 NA19054.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0009 a0002c0002t0001 a0002c0002t0009	a0002c0002t0001g0067 a0002c0002t0009g0072 a0002c0002t0001g0067 a0002c0002t0009g0072	2	358	0.0056	25	c.196 others(44): Show c.1967+1935_1967+1959dupTTTTTTTTTTTTTTTTTTTTTTTTT	EML4	ENSG00000143924.19	transcript	ENST00000318522.10	protein_coding	17/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML5_chr14_88607431_88797953	88745167	T T	TTGTTTGT others(18): Show TTGTTTGTTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0208 a0001c0001t0006g0208	1	332	0.0030	25	c.456 others(42): Show c.456+1017_456+1018insCACACACACACACACACAACAAACA	EML5	ENSG00000165521.16	transcript	ENST00000554922.6	protein_coding	3/43			chr14	TogoVar
EML5_chr14_88607431_88797953	88796707	T T	TTATATGT others(18): Show TTATATGTTTTATATATTATATATTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0013	a0001c0003t0013g0299 a0001c0003t0013g0299	1	332	0.0030	25	c.-42 others(36): Show c.-4205_-4204insTAATATATAATATATAAAACATATA	EML5	ENSG00000165521.16	transcript	ENST00000554922.6	protein_coding		3755		chr14	TogoVar
EML5_chr14_88607431_88797953	88796860	T T	TTATATAT others(18): Show TTATATATTATATATATTATATGTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02004.hp1 HG02451.hp2 NA19240.hp2 HG02004.hp1 HG02451.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0006g0285 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0006g0285	3	332	0.0090	25	c.-43 others(36): Show c.-4358_-4357insTAACATATAATATATATAATATATA	EML5	ENSG00000165521.16	transcript	ENST00000554922.6	protein_coding		3908		chr14	TogoVar
EML6_chr2_54718662_54977025	54882857	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00738.hp2 HG02922.hp1 others(1): Show HG00558.hp1 HG00738.hp2 HG02922.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 a0001c0001t0001 a0001c0002t0001 a0001c0005t0001	a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0002t0001g0021 others(1): Show a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0002t0001g0021 a0001c0005t0001g0015	4	264	0.0152	25	c.243 others(44): Show c.2438+3234_2438+3235insAAAAAAAAAAAAAAAAAAAAAAAAA	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	17/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54882873	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03688.hp1 HG03195.hp2 HG03688.hp1	a0001 a0001	a0001c0002 a0001c0029 a0001c0002 a0001c0029	a0001c0002t0015 a0001c0029t0001 a0001c0002t0015 a0001c0029t0001	a0001c0002t0015g0126 a0001c0029t0001g0057 a0001c0002t0015g0126 a0001c0029t0001g0057	2	264	0.0076	25	c.243 others(44): Show c.2438+3234_2438+3235insAAAAAAAAAAAAAAAAAAAAAAAGA	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	17/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54961184	G G	GTTGTTTT others(18): Show GTTGTTTTTTTTTTTTGTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0033 a0001c0004t0033	a0001c0004t0033g0129 a0001c0004t0033g0129	1	264	0.0038	25	c.496 others(42): Show c.4968+852_4968+853insGTTTTTTTTTTTTGTTTTTTTTTTT	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	35/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54961184	G G	GTTGTTTT others(18): Show GTTGTTTTTTTTTTTTTGTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG03834.hp2 HG00558.hp2 HG03834.hp2	a0001 a0001	a0001c0004 a0001c0019 a0001c0004 a0001c0019	a0001c0004t0007 a0001c0019t0002 a0001c0004t0007 a0001c0019t0002	a0001c0004t0007g0185 a0001c0019t0002g0250 a0001c0004t0007g0185 a0001c0019t0002g0250	2	264	0.0076	25	c.496 others(42): Show c.4968+852_4968+853insGTTTTTTTTTTTTTGTTTTTTTTTT	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	35/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54961184	G G	GTTGTTTT others(18): Show GTTGTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(17): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG01069.hp1 HG01071.hp1 HG01074.hp2 HG01261.hp2 HG02273.hp1 HG02300.hp2 HG02647.hp1 HG02683.hp2 HG02735.hp1 HG02922.hp2 HG03041.hp1 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03540.hp2 NA18952.hp2 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0004 others(5): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0011 a0003c0013	a0001c0001t0001 a0001c0001t0003 a0001c0001t0028 others(13): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0028 a0001c0002t0001 a0001c0002t0003 a0001c0002t0010 a0001c0002t0020 a0001c0002t0044 a0001c0004t0003 a0001c0005t0001 a0001c0005t0003 a0001c0006t0003 a0001c0006t0018 a0001c0007t0017 a0001c0011t0012 a0003c0013t0005	a0001c0001t0001g0152 a0001c0001t0001g0181 a0001c0001t0003g0138 others(17): Show a0001c0001t0001g0152 a0001c0001t0001g0181 a0001c0001t0003g0138 a0001c0001t0003g0143 a0001c0001t0028g0184 a0001c0002t0001g0219 a0001c0002t0003g0125 a0001c0002t0010g0010 a0001c0002t0020g0162 a0001c0002t0020g0163 a0001c0002t0044g0210 a0001c0004t0003g0116 a0001c0005t0001g0083 a0001c0005t0003g0119 a0001c0005t0003g0121 a0001c0006t0003g0134 a0001c0006t0018g0040 a0001c0007t0017g0172 a0001c0011t0012g0011 a0003c0013t0005g0035	20	264	0.0758	25	c.496 others(42): Show c.4968+852_4968+853insGTTTTTTTTTTTTTTTTTTTTTTTT	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	35/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
EMP2_chr16_10523422_10585598	10575237	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03492.hp2 NA18943.hp1 NA18947.hp2 others(1): Show HG03492.hp2 NA18943.hp1 NA18947.hp2 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0023 others(1): Show a0001c0001t0001 a0001c0001t0013 a0001c0001t0023 a0001c0001t0035	a0001c0001t0001g0064 a0001c0001t0013g0065 a0001c0001t0023g0066 others(1): Show a0001c0001t0001g0064 a0001c0001t0013g0065 a0001c0001t0023g0066 a0001c0001t0035g0123	4	402	0.0100	25	c.-61 others(42): Show c.-61+5287_-61+5311dupAAAAAAAAAAAAAAAAAAAAAAAAA	EMP2	ENSG00000213853.10	transcript	ENST00000359543.8	protein_coding	1/4			chr16	TogoVar
ENAH_chr1_225481829_225658123	225561619	T T	TTAAAATA others(18): Show TTAAAATAAAATAAAATAAAATAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(54): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00438.hp1 HG00438.hp2 HG00609.hp1 HG00609.hp2 HG01106.hp1 HG01192.hp1 HG01255.hp1 HG01496.hp1 HG01981.hp2 HG01993.hp1 HG02071.hp2 HG02109.hp2 HG02132.hp1 HG02135.hp2 HG02293.hp1 HG02300.hp2 HG02559.hp2 HG03139.hp2 HG03654.hp1 HG03710.hp1 HG03927.hp2 HG03942.hp1 HG04204.hp1 HG04228.hp2 NA18943.hp1 NA18945.hp1 NA18947.hp2 NA18950.hp2 NA18952.hp1 NA18956.hp1 NA18957.hp2 NA18959.hp2 NA18962.hp2 NA18970.hp2 NA18973.hp1 NA18973.hp2 NA18980.hp1 NA18988.hp2 NA18994.hp1 NA18995.hp1 NA19002.hp2 NA19007.hp2 NA19011.hp2 NA19054.hp1 NA19056.hp2 NA19065.hp1 NA19065.hp2 NA19077.hp2 NA19082.hp2 NA19090.hp2 NA20129.hp1 NA20129.hp2 NA21309.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(26): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0016 a0001c0001t0021 a0001c0001t0030 a0001c0001t0031 a0001c0001t0046 a0001c0001t0054 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0072 a0001c0001t0116 a0001c0003t0014 a0001c0003t0029 a0001c0003t0110 a0001c0003t0111 a0002c0002t0001 a0002c0002t0002 a0004c0005t0024 a0004c0005t0064	a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0128 others(54): Show a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0137 a0001c0001t0001g0141 a0001c0001t0001g0146 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0246 a0001c0001t0001g0275 a0001c0001t0002g0092 a0001c0001t0002g0094 a0001c0001t0002g0103 a0001c0001t0002g0106 a0001c0001t0002g0111 a0001c0001t0002g0113 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0204 a0001c0001t0002g0292 a0001c0001t0002g0303 a0001c0001t0003g0168 a0001c0001t0003g0257 a0001c0001t0005g0130 a0001c0001t0005g0155 a0001c0001t0006g0145 a0001c0001t0006g0265 a0001c0001t0007g0014 a0001c0001t0008g0295 a0001c0001t0008g0296 a0001c0001t0008g0297 a0001c0001t0011g0080 a0001c0001t0016g0027 a0001c0001t0016g0029 a0001c0001t0021g0064 a0001c0001t0030g0026 a0001c0001t0031g0229 a0001c0001t0046g0075 a0001c0001t0054g0199 a0001c0001t0066g0108 a0001c0001t0067g0109 a0001c0001t0068g0159 a0001c0001t0069g0098 a0001c0001t0070g0101 a0001c0001t0072g0225 a0001c0001t0116g0308 a0001c0003t0014g0025 a0001c0003t0029g0051 a0001c0003t0029g0054 a0001c0003t0110g0058 a0001c0003t0111g0053 a0002c0002t0001g0117 a0002c0002t0001g0136 a0002c0002t0002g0191 a0004c0005t0024g0272 a0004c0005t0064g0210	57	308	0.1851	25	c.171 others(42): Show c.171+5605_171+5629dupTTTTATTTTATTTTATTTTATTTTA	ENAH	ENSG00000154380.19	transcript	ENST00000366843.7	protein_coding	2/13			chr1	TogoVar
ENOX1_chr13_43208130_43791972	43247883	A A	ATATATAT others(18): Show ATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0027 a0001c0001t0010g0027	1	188	0.0053	25	c.161 others(46): Show c.1612-11146_1612-11145insAAAAAAAAAAAAATATATATATAT A	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	14/16			chr13	TogoVar
ENOX1_chr13_43208130_43791972	43417242	C C	CGGGAGAC others(18): Show CGGGAGACGGGAGAGGGAGAGGGAGA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03942.hp2 HG02572.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0041 a0001c0001t0030 a0001c0001t0041	a0001c0001t0030g0150 a0001c0001t0041g0187 a0001c0001t0030g0150 a0001c0001t0041g0187	2	188	0.0106	25	c.-74 others(42): Show c.-74-4255_-74-4254insTCTCCCTCTCCCTCTCCCGTCTCCC	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	3/16			chr13	TogoVar
ENOX1_chr13_43208130_43791972	43541173	G G	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0169 a0001c0002t0006g0169	1	188	0.0053	25	c.-21 others(46): Show c.-218-57046_-218-57022dupAAAAAAAAAAAAAAAAAAAAAAAA A	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	2/16			chr13	TogoVar
ENOX1_chr13_43208130_43791972	43651695	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0032 a0001c0001t0009g0032	1	188	0.0053	25	c.-21 others(46): Show c.-219+15783_-219+15784insTTTTTTTTTTTTTTTTTTTTTTTT T	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	2/16			chr13	TogoVar
ENPP3_chr6_131632302_131752410	131641799	G G	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02572.hp2 NA18939.hp2 others(7): Show HG00558.hp2 HG02572.hp2 NA18939.hp2 NA18985.hp2 NA19002.hp2 NA19004.hp1 NA19005.hp2 NA19006.hp2 NA19057.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0131 a0001c0001t0001g0135 a0001c0001t0001g0187 others(7): Show a0001c0001t0001g0131 a0001c0001t0001g0135 a0001c0001t0001g0187 a0001c0002t0001g0042 a0001c0002t0001g0073 a0001c0002t0001g0105 a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0001g0134 a0001c0002t0002g0107	10	278	0.0360	25	c.154 others(40): Show c.154+293_154+294insTTTTTTTTTTTTTTTTTTTTTTTTT	ENPP3	ENSG00000154269.15	transcript	ENST00000357639.8	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr6	TogoVar
ENTHD1_chr22_39738044_39898760	39769941	G G	GATTGTGA others(18): Show GATTGTGATTTTTTGTTCTTCAGTTA	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	218	0.0046	25	c.833 others(42): Show c.833-4333_833-4332insTAACTGAAGAACAAAAAATCACAAT	ENTHD1	ENSG00000176177.10	transcript	ENST00000325157.7	protein_coding	5/6			chr22	TogoVar
ENTPD1_chr10_95751163_95882266	95758002	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG04115.hp1 HG02683.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0033 a0001c0001t0004 a0001c0001t0033	a0001c0001t0004g0179 a0001c0001t0033g0180 a0001c0001t0004g0179 a0001c0001t0033g0180	2	340	0.0059	25	c.16+ others(40): Show c.16+1751_16+1775dupAAAAAAAAAAAAAAAAAAAAAAAAA	ENTPD1	ENSG00000138185.20	transcript	ENST00000371205.5	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
ENTREP3_chr1_155242205_155260483	155252722	A A	ATATATAT others(18): Show ATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03041.hp1 HG02615.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0031 a0001c0001t0002g0031	2	395	0.0051	25	c.622 others(40): Show c.622-818_622-817insAAAAAAAAATATATATATATATATA	ENTREP3	ENSG00000160767.23	transcript	ENST00000361361.7	protein_coding	5/11			chr1	TogoVar
ENTREP3_chr1_155242205_155260483	155252723	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	395	0.0025	25	c.622 others(40): Show c.622-819_622-818insTATATATATATATATATATATATAT	ENTREP3	ENSG00000160767.23	transcript	ENST00000361361.7	protein_coding	5/11			chr1	TogoVar
EOMES_chr3_27710953_27727323	27711316	A A	ATATATAT others(18): Show ATATATATATATATATATATATATTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0014 a0003c0004t0003g0014	1	400	0.0025	25	c.57 others(36): Show c.5753_*5754insAAATATATATATATATATATATATA	EOMES	ENSG00000163508.13	transcript	ENST00000449599.4	protein_coding		4636		chr3	TogoVar
EOMES_chr3_27710953_27727323	27711316	A A	ATATATAT others(18): Show ATATATATATATATATATATATTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	400	0.0025	25	c.57 others(36): Show c.5753_*5754insAAAAATATATATATATATATATATA	EOMES	ENSG00000163508.13	transcript	ENST00000449599.4	protein_coding		4636		chr3	TogoVar
EOMES_chr3_27710953_27727323	27711316	A A	ATATATAT others(18): Show ATATATATATATATATTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0008 a0002c0002t0002g0008	1	400	0.0025	25	c.57 others(36): Show c.5753_*5754insAAAAAAAAAAATATATATATATATA	EOMES	ENSG00000163508.13	transcript	ENST00000449599.4	protein_coding		4636		chr3	TogoVar
EOMES_chr3_27710953_27727323	27711317	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	400	0.0025	25	c.57 others(36): Show c.5752_*5753insTATATATATATATATATATATATAT	EOMES	ENSG00000163508.13	transcript	ENST00000449599.4	protein_coding		4635		chr3	TogoVar
EP300_chr22_41087592_41185077	41154376	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0049 a0002c0003t0001g0049	1	300	0.0033	25	c.314 others(42): Show c.3143-596_3143-595insTTTTTTTTTTTTTTTTTTTTTTTTT	EP300	ENSG00000100393.15	transcript	ENST00000263253.9	protein_coding	16/30		INFO_REALIGN_3_PRIME	chr22	TogoVar
EP400_chr12_131944942_132085460	132073459	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0067 a0001c0003t0002g0067	1	208	0.0048	25	c.902 others(44): Show c.9022-3043_9022-3042insTTTTTTTTTTTTTTTTTTTTTTTTT	EP400	ENSG00000183495.15	transcript	ENST00000389561.7	protein_coding	51/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
EPB41L1_chr20_36149740_36237799	36204471	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0009 a0001c0004t0009	a0001c0004t0009g0045 a0001c0004t0009g0045	1	236	0.0042	25	c.166 others(44): Show c.1669-5015_1669-4991dupTTTTTTTTTTTTTTTTTTTTTTTTT	EPB41L1	ENSG00000088367.23	transcript	ENST00000338074.7	protein_coding	14/21		INFO_REALIGN_3_PRIME	chr20	TogoVar
EPB41L2_chr6_130834347_131068245	130972937	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0184 a0001c0007t0003g0184	1	356	0.0028	25	c.-14 others(44): Show c.-14-16463_-14-16439dupTTTTTTTTTTTTTTTTTTTTTTTTT	EPB41L2	ENSG00000079819.20	transcript	ENST00000337057.8	protein_coding	1/19			chr6	TogoVar
EPB41L4B_chr9_109166974_109326059	109288722	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18961.hp2 NA18906.hp2 NA18961.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0007 a0002c0003t0034 a0002c0003t0007 a0002c0003t0034	a0002c0003t0007g0271 a0002c0003t0034g0310 a0002c0003t0007g0271 a0002c0003t0034g0310	2	318	0.0063	25	c.307 others(42): Show c.307-8826_307-8802dupTTTTTTTTTTTTTTTTTTTTTTTTT	EPB41L4B	ENSG00000095203.15	transcript	ENST00000374566.8	protein_coding	1/25			chr9	TogoVar
EPB41L5_chr2_120008077_120184119	120098189	T T	TGTGTGTG others(18): Show TGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0229 a0002c0002t0001g0229	1	278	0.0036	25	c.117 others(44): Show c.1179-2055_1179-2054insGTGTGTGTGTGTGTGTGTGTGTGTG	EPB41L5	ENSG00000115109.14	transcript	ENST00000263713.10	protein_coding	14/24			chr2	TogoVar
EPB41_chr1_28909569_29125041	28921938	T T	TTATATAT others(18): Show TTATATATATATATATATATATTATA	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0184 a0001c0001t0010g0184	1	312	0.0032	25	c.-8+ others(40): Show c.-8+7191_-8+7192insTATATATATATATATATATATATAT	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPB41_chr1_28909569_29125041	28935467	A A	ACACACAC others(18): Show ACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02129.hp1 NA19066.hp2 HG02129.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0009 a0001c0001t0005g0186 a0001c0001t0001g0009 a0001c0001t0005g0186	2	312	0.0064	25	c.-8+ others(42): Show c.-8+20700_-8+20701insACACACACACACACACACACACACC	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPB41_chr1_28909569_29125041	28935467	A A	ACACACAC others(18): Show ACACACACACACACACACACACACCC	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0003 a0003	a0003c0015 a0003c0015	a0003c0015t0002 a0003c0015t0002	a0003c0015t0002g0178 a0003c0015t0002g0178	1	312	0.0032	25	c.-8+ others(42): Show c.-8+20700_-8+20701insACACACACACACACACACACACCCC	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPB41_chr1_28909569_29125041	28935467	A A	ACACACAC others(18): Show ACACACACACACACACACACACCCCC	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	312	0.0032	25	c.-8+ others(42): Show c.-8+20700_-8+20701insACACACACACACACACACACCCCCC	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPB41_chr1_28909569_29125041	28935467	A A	ACACACAC others(18): Show ACACACACACACACACACCCCCCCCC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0142 a0001c0001t0015g0142	1	312	0.0032	25	c.-8+ others(42): Show c.-8+20700_-8+20701insACACACACACACACACCCCCCCCCC	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPB41_chr1_28909569_29125041	28935467	A A	ACACACAC others(18): Show ACACACACACACACACCCCCCCCCCC	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	312	0.0032	25	c.-8+ others(42): Show c.-8+20700_-8+20701insACACACACACACACCCCCCCCCCCC	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPB41_chr1_28909569_29125041	28935468	C C	CACACACA others(18): Show CACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0170 a0001c0001t0002g0170	1	312	0.0032	25	c.-8+ others(42): Show c.-8+20700_-8+20701insACACACACACACACACACACACACA	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	1/20			chr1	TogoVar
EPC1_chr10_32262751_32352158	32283713	A A	ATGGACTA others(18): Show ATGGACTAATGGACTGTTTATGTTAT	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	318	0.0031	25	c.174 others(42): Show c.1744+960_1744+984dupATAACATAAACAGTCCATTAGTCCA	EPC1	ENSG00000120616.16	transcript	ENST00000319778.11	protein_coding	10/13			chr10	TogoVar
EPC1_chr10_32262751_32352158	32288772	G G	GAGGGGGG others(18): Show GAGGGGGGGACCACATTAAAATAGTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	318	0.0031	25	c.976 others(42): Show c.976-1523_976-1499dupAACTATTTTAATGTGGTCCCCCCCT	EPC1	ENSG00000120616.16	transcript	ENST00000319778.11	protein_coding	6/13			chr10	TogoVar
EPC2_chr2_148639751_148792569	148774622	T T	TTATATTA others(18): Show TTATATTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00738.hp2 HG01069.hp1 others(14): Show HG00280.hp2 HG00738.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01123.hp2 HG01175.hp1 HG01981.hp2 HG02004.hp2 NA18945.hp1 NA18948.hp1 NA18949.hp1 NA19003.hp2 NA19056.hp1 NA19064.hp2 NA19081.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0036 a0001c0001t0002g0040 a0001c0001t0002g0044 others(14): Show a0001c0001t0002g0036 a0001c0001t0002g0040 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0050 a0001c0001t0002g0068 a0001c0001t0002g0081 a0001c0001t0002g0085 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0102 a0001c0001t0002g0119 a0001c0001t0003g0083 a0001c0001t0003g0090 a0001c0001t0003g0120	17	308	0.0552	25	c.172 others(44): Show c.1720+3236_1720+3237insATATTATATATATATATATATATAT	EPC2	ENSG00000135999.12	transcript	ENST00000258484.11	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
EPC2_chr2_148639751_148792569	148775658	A A	AAATTAAA others(18): Show AAATTAAATAAAATTAAATTTAATTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp1 HG00544.hp1 others(162): Show HG00280.hp1 HG00423.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01106.hp2 HG01123.hp1 HG01175.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01346.hp2 HG01496.hp2 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01891.hp2 HG01943.hp2 HG01981.hp1 HG02015.hp1 HG02027.hp2 HG02071.hp1 HG02074.hp2 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp2 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03579.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03927.hp1 HG04184.hp2 HG04204.hp1 HG06807.hp2 NA18612.hp2 NA18747.hp1 NA18939.hp2 NA18941.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp2 NA18949.hp2 NA18950.hp1 NA18952.hp1 NA18954.hp2 NA18956.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18963.hp2 NA18964.hp1 NA18968.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18973.hp2 NA18975.hp2 NA18977.hp1 NA18981.hp1 NA18981.hp2 NA18985.hp2 NA18986.hp2 NA18990.hp1 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19002.hp1 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19010.hp1 NA19011.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19056.hp2 NA19057.hp1 NA19060.hp2 NA19064.hp1 NA19065.hp1 NA19068.hp2 NA19070.hp2 NA19077.hp1 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19082.hp2 NA19083.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA19090.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0005 others(3): Show a0001c0001 a0001c0003 a0001c0005 a0001c0006 a0002c0002 a0003c0007	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(8): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 a0001c0003t0001 a0001c0005t0001 a0001c0006t0001 a0002c0002t0001 a0002c0002t0007 a0003c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(162): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0027 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0004g0172 a0001c0001t0004g0175 a0001c0001t0004g0176 a0001c0001t0004g0180 a0001c0001t0004g0181 a0001c0001t0004g0182 a0001c0001t0005g0010 a0001c0001t0005g0216 a0001c0001t0005g0228 a0001c0001t0008g0211 a0001c0001t0010g0296 a0001c0003t0001g0250 a0001c0003t0001g0270 a0001c0003t0001g0271 a0001c0005t0001g0008 a0001c0005t0001g0187 a0001c0006t0001g0006 a0002c0002t0001g0254 a0002c0002t0001g0308 a0002c0002t0007g0255 a0003c0007t0001g0137	165	308	0.5357	25	c.172 others(44): Show c.1720+4290_1720+4314dupTTAATTTAATTAAATAAAATTAAAT	EPC2	ENSG00000135999.12	transcript	ENST00000258484.11	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
EPC2_chr2_148639751_148792569	148775658	A A	AAATTAAA others(18): Show AAATTAAATTAAATTAAATTTAATTT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0275 a0001c0001t0001g0275	1	308	0.0033	25	c.172 others(44): Show c.1720+4279_1720+4280insTAAATTAAATTTAATTTAATTAAAT	EPC2	ENSG00000135999.12	transcript	ENST00000258484.11	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
EPDR1_chr7_37915640_37956936	37937985	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01070.hp2 HG02015.hp2 others(8): Show HG00323.hp1 HG01070.hp2 HG02015.hp2 HG02132.hp1 HG02300.hp2 HG02886.hp1 NA18957.hp2 NA19002.hp1 NA19063.hp2 NA19090.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0002t0003 a0001c0002t0022	a0001c0001t0001g0038 a0001c0001t0001g0139 a0001c0001t0001g0179 others(8): Show a0001c0001t0001g0038 a0001c0001t0001g0139 a0001c0001t0001g0179 a0001c0001t0001g0230 a0001c0001t0004g0050 a0001c0001t0006g0049 a0001c0001t0006g0060 a0001c0001t0006g0072 a0001c0002t0003g0076 a0001c0002t0003g0166 a0001c0002t0022g0075	11	448	0.0246	25	c.270 others(44): Show c.270-10832_270-10831insTTTTTTTTTTTTTTTTTTTTTTTTT	EPDR1	ENSG00000086289.13	transcript	ENST00000199448.9	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
EPHA2_chr1_16119337_16161069	16136713	A A	AGAAGAAG others(18): Show AGAAGAAGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	312	0.0032	25	c.131 others(42): Show c.1313-944_1313-943insCTTCTTCTTCTTCTTCTTCTTCTTC	EPHA2	ENSG00000142627.13	transcript	ENST00000358432.8	protein_coding	5/16			chr1	TogoVar
EPHA5_chr4_65314567_65675489	65465528	A A	AAAGAAAG others(18): Show AAAGAAAGAAAGAAAGAAAAGAAAGG	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0063 a0001c0001t0013g0063	1	234	0.0043	25	c.140 others(46): Show c.1402+24848_1402+24849insCCTTTCTTTTCTTTCTTTCTTTCT T	EPHA5	ENSG00000145242.14	transcript	ENST00000613740.5	protein_coding	5/16			chr4	TogoVar

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