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
EPC2_chr2_148639751_148792569	148774622	T T	TTATATTA others(16): Show TTATATTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01884.hp2 HG02040.hp1 others(11): Show HG01496.hp1 HG01884.hp2 HG02040.hp1 HG02155.hp2 HG03704.hp2 HG03831.hp2 HG04184.hp1 NA18941.hp2 NA18969.hp2 NA18970.hp1 NA18977.hp2 NA18985.hp1 NA19057.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0037 a0001c0001t0002g0064 a0001c0001t0002g0065 others(11): Show a0001c0001t0002g0037 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0067 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0089 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0132	14	308	0.0455	23	c.172 others(42): Show c.1720+3236_1720+3237insATATTATATATATATATATATAT	EPC2	ENSG00000135999.12	transcript	ENST00000258484.11	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
EPCAM_chr2_47364311_47392020	47368413	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0327 a0001c0001t0001g0327	1	450	0.0022	23	c.-10 others(34): Show c.-1093_-1092insTTTTTTTTTTTTTTTTTTTTTTT	EPCAM	ENSG00000119888.11	transcript	ENST00000263735.9	protein_coding		897		chr2	TogoVar
EPDR1_chr7_37915640_37956936	37937985	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01884.hp1 HG01978.hp1 others(22): Show HG00323.hp2 HG01884.hp1 HG01978.hp1 HG01978.hp2 HG02056.hp2 HG02486.hp1 HG02683.hp2 HG03239.hp1 HG03942.hp1 NA18941.hp1 NA18950.hp1 NA18950.hp2 NA18955.hp1 NA18967.hp2 NA18971.hp2 NA18974.hp2 NA18975.hp1 NA18980.hp1 NA18989.hp1 NA18993.hp1 NA18993.hp2 NA19005.hp2 NA19009.hp1 NA19030.hp2 NA19057.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0004c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0011 a0001c0001t0013 a0001c0001t0031 a0001c0002t0002 a0001c0002t0003 a0002c0003t0008 a0004c0008t0001	a0001c0001t0001g0010 a0001c0001t0001g0037 a0001c0001t0001g0046 others(21): Show a0001c0001t0001g0010 a0001c0001t0001g0037 a0001c0001t0001g0046 a0001c0001t0001g0054 a0001c0001t0001g0177 a0001c0001t0002g0151 a0001c0001t0002g0186 a0001c0001t0003g0176 a0001c0001t0004g0036 a0001c0001t0004g0052 a0001c0001t0006g0048 a0001c0001t0006g0064 a0001c0001t0006g0141 a0001c0001t0011g0045 a0001c0001t0013g0366 a0001c0001t0031g0248 a0001c0002t0002g0025 a0001c0002t0003g0055 a0001c0002t0003g0181 a0001c0002t0003g0185 a0001c0002t0003g0219 a0001c0002t0003g0220 a0002c0003t0008g0159 a0004c0008t0001g0010	25	448	0.0558	23	c.270 others(42): Show c.270-10854_270-10832dupTTTTTTTTTTTTTTTTTTTTTTT	EPDR1	ENSG00000086289.13	transcript	ENST00000199448.9	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
EPHA3_chr3_89102621_89487134	89219688	G G	GTGTTTTT others(16): Show GTGTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0117 a0002c0003t0003g0117	1	200	0.0050	23	c.814 others(40): Show c.814+9169_814+9170insGTTTTTTTTTTTTTTTTTTTTTT	EPHA3	ENSG00000044524.11	transcript	ENST00000336596.7	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA3_chr3_89102621_89487134	89219688	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0190 a0002c0003t0003g0190	1	200	0.0050	23	c.814 others(40): Show c.814+9182_814+9183insTTTTTTTTTTTTTTTTTTTTTTT	EPHA3	ENSG00000044524.11	transcript	ENST00000336596.7	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA3_chr3_89102621_89487134	89352902	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0002 a0005c0012t0002	a0005c0012t0002g0034 a0005c0012t0002g0034	1	200	0.0050	23	c.130 others(44): Show c.1306+10833_1306+10834insAAAAAAAAAAAAAAAAAAAAAAA	EPHA3	ENSG00000044524.11	transcript	ENST00000336596.7	protein_coding	5/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA7_chr6_93235020_93424559	93301622	C C	CCAATAAT others(16): Show CCAATAATAGCAACTGTCTGTCAT	intron_variant intron_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	280	0.0036	23	c.132 others(44): Show c.1325-29223_1325-29201dupATGACAGACAGTTGCTATTATTG	EPHA7	ENSG00000135333.15	transcript	ENST00000369303.9	protein_coding	5/16			chr6	TogoVar
EPHB1_chr3_134790260_135265467	134882765	C C	CCTTTCTT others(16): Show CCTTTCTTTCTTTCTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0056 a0001c0004t0001g0056	1	134	0.0075	23	c.59- others(40): Show c.59-43036_59-43035insCTTTCTTTCTTTCTTTCTTTCTT	EPHB1	ENSG00000154928.19	transcript	ENST00000398015.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHB1_chr3_134790260_135265467	134882765	C C	CCTTTCTT others(16): Show CCTTTCTTTCTTTTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG03195.hp2 NA18948.hp1 others(1): Show HG02602.hp1 HG03195.hp2 NA18948.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006	a0001c0001t0005 a0001c0002t0010 a0001c0004t0002 others(1): Show a0001c0001t0005 a0001c0002t0010 a0001c0004t0002 a0001c0006t0001	a0001c0001t0005g0101 a0001c0002t0010g0095 a0001c0004t0002g0037 others(1): Show a0001c0001t0005g0101 a0001c0002t0010g0095 a0001c0004t0002g0037 a0001c0006t0001g0086	4	134	0.0299	23	c.59- others(40): Show c.59-43039_59-43038insTTTCTTTCTTTCTTTCTTTCTTT	EPHB1	ENSG00000154928.19	transcript	ENST00000398015.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHB1_chr3_134790260_135265467	135076260	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0119 a0001c0003t0004g0119	1	134	0.0075	23	c.806 others(42): Show c.806-30187_806-30186insTATATATATATATATATATATAA	EPHB1	ENSG00000154928.19	transcript	ENST00000398015.8	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHB1_chr3_134790260_135265467	135183026	T T	TTTTCTTT others(16): Show TTTTCTTTTCTTTTCTTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0066 a0001c0002t0001g0066	1	134	0.0075	23	c.188 others(42): Show c.1882+3051_1882+3052insTCTTTTCTTTTCTTTCTTTCTTT	EPHB1	ENSG00000154928.19	transcript	ENST00000398015.8	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPN2_chr17_19232366_19341715	19289724	G G	GTTTTGTT others(16): Show GTTTTGTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00621.hp2 NA18950.hp2 HG00597.hp1 HG00621.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0013g0083 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0013g0083	3	282	0.0106	23	c.766 others(40): Show c.766+3938_766+3939insGTTTTTTTTTTTTTTTTTTTTTT	EPN2	ENSG00000072134.16	transcript	ENST00000314728.10	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
EPN2_chr17_19232366_19341715	19318549	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00642.hp1 HG00738.hp1 others(11): Show HG00140.hp1 HG00642.hp1 HG00738.hp1 HG01109.hp1 HG01243.hp1 HG01257.hp1 HG01258.hp2 HG01496.hp2 HG01516.hp2 HG02004.hp2 HG03492.hp1 HG03540.hp1 HG03942.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0092 a0001c0001t0002g0039 a0001c0001t0002g0041 others(11): Show a0001c0001t0001g0092 a0001c0001t0002g0039 a0001c0001t0002g0041 a0001c0001t0002g0044 a0001c0001t0002g0048 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0061 a0001c0001t0005g0026 a0001c0001t0005g0040 a0001c0001t0005g0046 a0001c0001t0005g0047	14	282	0.0497	23	c.114 others(42): Show c.1147+5288_1147+5289insAAAAAAAAAAAAAAAAAAAAAAA	EPN2	ENSG00000072134.16	transcript	ENST00000314728.10	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
EPOR_chr19_11372207_11389314	11384703	C C	CTCTCTCT others(16): Show CTCTCTCTCTCTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	404	0.0025	23	c.-49 others(32): Show c.-497_-496insAGAGAGAGAGAGAGAGAGAGAGA	EPOR	ENSG00000187266.14	transcript	ENST00000222139.11	protein_coding		390		chr19	TogoVar
EPSTI1_chr13_42881388_42997241	42938914	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA19240.hp1 NA18972.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0049 a0001c0001t0002 a0001c0002t0049	a0001c0001t0002g0245 a0001c0002t0049g0248 a0001c0001t0002g0245 a0001c0002t0049g0248	2	352	0.0057	23	c.564 others(42): Show c.564-12486_564-12485insTTTTTTTTTTTTTTTTTTTTTTT	EPSTI1	ENSG00000133106.15	transcript	ENST00000313624.12	protein_coding	6/10			chr13	TogoVar
EPSTI1_chr13_42881388_42997241	42968954	A A	ACACACAC others(16): Show ACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02965.hp2 NA18947.hp2 others(4): Show HG02895.hp1 HG02965.hp2 NA18947.hp2 NA18949.hp1 NA18961.hp2 NA18991.hp2 NA19064.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0006 a0001c0001 a0001c0002 a0002c0006	a0001c0001t0002 a0001c0001t0028 a0001c0002t0003 others(4): Show a0001c0001t0002 a0001c0001t0028 a0001c0002t0003 a0001c0002t0010 a0001c0002t0051 a0001c0002t0053 a0002c0006t0012	a0001c0001t0002g0284 a0001c0001t0028g0197 a0001c0002t0003g0187 others(4): Show a0001c0001t0002g0284 a0001c0001t0028g0197 a0001c0002t0003g0187 a0001c0002t0010g0287 a0001c0002t0051g0283 a0001c0002t0053g0208 a0002c0006t0012g0199	7	352	0.0199	23	c.331 others(38): Show c.331+139_331+140insGTGTGTGTGTGTGTGTGTGTGTG	EPSTI1	ENSG00000133106.15	transcript	ENST00000313624.12	protein_coding	3/10			chr13	TogoVar
ERBB2_chr17_39695064_39733658	39724272	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00621.hp1 HG01109.hp1 others(22): Show HG00597.hp2 HG00621.hp1 HG01109.hp1 HG01891.hp1 HG02055.hp1 HG02630.hp1 HG02683.hp1 HG02970.hp1 HG03471.hp1 HG03486.hp1 HG04199.hp2 NA18940.hp1 NA18967.hp1 NA18985.hp1 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18993.hp1 NA18994.hp2 NA18998.hp2 NA19000.hp1 NA19076.hp1 NA19079.hp1 NA19240.hp2 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0014	a0001c0001 a0001c0004 a0002c0002 others(3): Show a0001c0001 a0001c0004 a0002c0002 a0002c0006 a0003c0003 a0014c0013	a0001c0001t0001 a0001c0004t0001 a0002c0002t0001 others(3): Show a0001c0001t0001 a0001c0004t0001 a0002c0002t0001 a0002c0006t0001 a0003c0003t0001 a0014c0013t0001	a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0004t0001g0100 others(14): Show a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0004t0001g0100 a0002c0002t0001g0006 a0002c0002t0001g0011 a0002c0002t0001g0108 a0002c0002t0001g0111 a0002c0002t0001g0114 a0002c0002t0001g0118 a0002c0002t0001g0124 a0002c0002t0001g0131 a0002c0002t0001g0136 a0002c0002t0001g0137 a0002c0006t0001g0056 a0003c0003t0001g0006 a0003c0003t0001g0127 a0014c0013t0001g0011	25	318	0.0786	23	c.230 others(40): Show c.2307+278_2307+279insTTTTTTTTTTTTTTTTTTTTTTT	ERBB2	ENSG00000141736.14	transcript	ENST00000269571.10	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr17	TogoVar
ERBB4_chr2_211370717_212543802	211513357	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02809.hp1 HG02615.hp2 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0023 a0001c0001t0002 a0001c0001t0023	a0001c0001t0002g0024 a0001c0001t0023g0012 a0001c0001t0002g0024 a0001c0001t0023g0012	2	56	0.0357	23	c.248 others(44): Show c.2487+48545_2487+48546insTTTTTTTTTTTTTTTTTTTTTTT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	20/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	211562769	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0051 a0001c0001t0025g0051	1	56	0.0179	23	c.230 others(40): Show c.2302-682_2302-681insAAAAAAAAAAAAAAAAAAAAAAA	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	19/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	211599536	T T	TGTGTGTG others(16): Show TGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0027 a0001c0002t0013g0027	1	56	0.0179	23	c.230 others(44): Show c.2301+19640_2301+19641insCACACACACACACACACACACAC	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	19/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	211673517	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03225.hp1 HG03225.hp2 others(4): Show HG02895.hp1 HG03225.hp1 HG03225.hp2 HG03471.hp2 HG03834.hp2 NA18522.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0019 others(3): Show a0001c0001t0002 a0001c0001t0011 a0001c0001t0019 a0001c0001t0022 a0001c0001t0024 a0001c0001t0026	a0001c0001t0002g0016 a0001c0001t0011g0041 a0001c0001t0011g0042 others(4): Show a0001c0001t0002g0016 a0001c0001t0011g0041 a0001c0001t0011g0042 a0001c0001t0019g0002 a0001c0001t0022g0006 a0001c0001t0024g0038 a0001c0001t0026g0052	7	56	0.1250	23	c.162 others(40): Show c.1623-261_1623-260insTTTTTTTTTTTTTTTTTTTTTTT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	13/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	211861124	T T	TTATATAT others(16): Show TTATATATATATATTTTATATATA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0046 a0001c0001t0009g0046	1	56	0.0179	23	c.422 others(42): Show c.422-72966_422-72965insTATATATAAAATATATATATATA	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	3/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	211934926	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp2 NA18522.hp2 NA19240.hp1 HG03579.hp2 NA18522.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0024 a0001c0001t0003 a0001c0001t0004 a0001c0001t0024	a0001c0001t0003g0050 a0001c0001t0004g0033 a0001c0001t0024g0038 a0001c0001t0003g0050 a0001c0001t0004g0033 a0001c0001t0024g0038	3	56	0.0536	23	c.421 others(42): Show c.421+12503_421+12504insTTTTTTTTTTTTTTTTTTTTTTT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	3/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212206589	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03579.hp1 HG03225.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0017 a0001c0001t0011 a0001c0001t0017	a0001c0001t0011g0041 a0001c0001t0017g0029 a0001c0001t0011g0041 a0001c0001t0017g0029	2	56	0.0357	23	c.83- others(40): Show c.83-81687_83-81686insAAAAAAAAAAAAAAAAAAAAAAA	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212345265	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0018 a0001c0002t0018	a0001c0002t0018g0010 a0001c0002t0018g0010	1	56	0.0179	23	c.82+ others(42): Show c.82+193183_82+193184insTTTTTTTTTTTTTTTTTTTTTTT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212474822	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0029 a0001c0001t0017g0029	1	56	0.0179	23	c.82+ others(40): Show c.82+63626_82+63627insAAAAAAAAAAAAAAAAAAAAAAA	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212540894	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp1 HG01891.hp1 HG03225.hp1 others(5): Show HG01496.hp1 HG01891.hp1 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03834.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0022 a0001c0002t0016 a0001c0002t0018 a0002c0003t0001	a0001c0001t0002g0016 a0001c0001t0002g0047 a0001c0001t0003g0050 others(5): Show a0001c0001t0002g0016 a0001c0001t0002g0047 a0001c0001t0003g0050 a0001c0001t0008g0004 a0001c0001t0022g0006 a0001c0002t0016g0019 a0001c0002t0018g0010 a0002c0003t0001g0014	8	56	0.1429	23	c.-23 others(34): Show c.-2365_-2364insTTTTTTTTTTTTTTTTTTTTTTT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding		2093		chr2	TogoVar
ERC1_chr12_986223_1500931	1402614	A A	AACACACA others(16): Show AACACACACACACACACACACACC	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01358.hp2 HG01496.hp2 others(15): Show HG01257.hp1 HG01358.hp2 HG01496.hp2 HG01891.hp1 HG02055.hp1 HG02109.hp1 HG02257.hp2 HG02622.hp2 HG02647.hp1 HG02717.hp1 HG02922.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0013 a0002c0002 a0001c0001 a0001c0013 a0002c0002	a0001c0001t0001 a0001c0001t0005 a0001c0001t0058 others(14): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0058 a0001c0001t0074 a0001c0001t0130 a0001c0013t0063 a0002c0002t0006 a0002c0002t0036 a0002c0002t0065 a0002c0002t0078 a0002c0002t0079 a0002c0002t0084 a0002c0002t0115 a0002c0002t0116 a0002c0002t0127 a0002c0002t0129 a0002c0002t0139	a0001c0001t0001g0076 a0001c0001t0005g0041 a0001c0001t0058g0141 others(15): Show a0001c0001t0001g0076 a0001c0001t0005g0041 a0001c0001t0058g0141 a0001c0001t0074g0039 a0001c0001t0130g0102 a0001c0013t0063g0077 a0002c0002t0006g0122 a0002c0002t0006g0125 a0002c0002t0036g0158 a0002c0002t0065g0072 a0002c0002t0078g0128 a0002c0002t0079g0124 a0002c0002t0084g0025 a0002c0002t0115g0049 a0002c0002t0116g0107 a0002c0002t0127g0155 a0002c0002t0129g0106 a0002c0002t0139g0096	18	162	0.1111	23	c.292 others(42): Show c.2926-5513_2926-5512insCACACACACACACACACACACAC	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	16/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1493548	A A	AAAAAAAT others(16): Show AAAAAAATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0052 a0002c0002t0052	a0002c0002t0052g0154 a0002c0002t0052g0154	1	162	0.0062	23	c.33 others(34): Show c.3319_*3320insAAAAATATATATATATATATATA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	19/19	3320	INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC2_chr3_55503311_56473467	55553011	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0037 a0001c0001t0002g0037	1	74	0.0135	23	c.40 others(42): Show c.40-41758_*40-41736dupAAAAAAAAAAAAAAAAAAAAAAA	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	17/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	55729837	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0073 a0001c0001t0009g0073	1	74	0.0135	23	c.271 others(42): Show c.2712+4911_2712+4933dupTTTTTTTTTTTTTTTTTTTTTTT	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	15/17			chr3	TogoVar
EREG_chr4_74360145_74393749	74363493	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp1 HG02965.hp1 HG02970.hp2 others(3): Show HG01123.hp1 HG02965.hp1 HG02970.hp2 HG03130.hp1 HG03704.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0003 a0001c0001t0007	a0001c0001t0003g0033 a0001c0001t0003g0109 a0001c0001t0003g0214 others(2): Show a0001c0001t0003g0033 a0001c0001t0003g0109 a0001c0001t0003g0214 a0001c0001t0003g0215 a0001c0001t0007g0045	6	358	0.0168	23	c.-18 others(34): Show c.-1816_-1815insTTTTTTTTTTTTTTTTTTTTTTT	EREG	ENSG00000124882.4	transcript	ENST00000244869.3	protein_coding		1651		chr4	TogoVar
ERGIC1_chr5_172829251_172957683	172908329	G G	GGGGGGAG others(16): Show GGGGGGAGGGGGGGGGAGGGGGGA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0018 a0001c0001t0010g0018	1	334	0.0030	23	c.156 others(40): Show c.156-1333_156-1332insAGGGGGGGGGAGGGGGGAGGGGG	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC3_chr20_35537078_35562634	35539566	C C	CAGTTTAT others(16): Show CAGTTTATATATATAATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	364	0.0028	23	c.-25 others(34): Show c.-2532_-2531insAGTTTATATATATAATATATATA	ERGIC3	ENSG00000125991.21	transcript	ENST00000348547.7	protein_coding		2511		chr20	TogoVar
ERGIC3_chr20_35537078_35562634	35539581	A A	ATATATAT others(16): Show ATATATATAACAGTTTATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	364	0.0028	23	c.-25 others(34): Show c.-2517_-2516insTATATATAACAGTTTATATATAT	ERGIC3	ENSG00000125991.21	transcript	ENST00000348547.7	protein_coding		2496		chr20	TogoVar
ERI3_chr1_44216070_44360257	44342858	T T	TATATATA others(16): Show TATATATAAATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	340	0.0029	23	c.212 others(40): Show c.212-3537_212-3536insTATATATATATATATTTATATAT	ERI3	ENSG00000117419.16	transcript	ENST00000372257.7	protein_coding	2/8			chr1	TogoVar
ERICH1_chr8_659200_736224	660517	G G	GCTGGCGG others(16): Show GCTGGCGGGCCCGTGAGTCCCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0319 a0001c0003t0002g0319	1	378	0.0027	23	c.40 others(34): Show c.4085_*4086insTGGGGGACTCACGGGCCCGCCAG	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding		3682		chr8	TogoVar
ERICH1_chr8_659200_736224	708681	G G	GTTTTTTG others(16): Show GTTTTTTGTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG03942.hp1 HG04184.hp2 others(2): Show HG00423.hp1 HG03942.hp1 HG04184.hp2 NA18956.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0274 a0001c0001t0002g0276 a0001c0001t0002g0287 others(2): Show a0001c0001t0002g0274 a0001c0001t0002g0276 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0331	5	378	0.0132	23	c.169 others(40): Show c.169+7179_169+7180insAAAAAAAAAAAAAAAACAAAAAA	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
ERICH1_chr8_659200_736224	708687	T T	TGTTTTTT others(16): Show TGTTTTTTTTTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0332 a0001c0001t0002g0332	1	378	0.0027	23	c.169 others(40): Show c.169+7173_169+7174insCAAAAAAAAAAAAAAAAAAAAAC	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
ERICH5_chr8_98059568_98098609	98091900	C C	CTTTCTTT others(16): Show CTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0288 a0001c0001t0001g0288	1	442	0.0023	23	c.101 others(42): Show c.1013-1321_1013-1320insTTTCTTTCTTTCTTTCTTTCTTT	ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	2/2			chr8	TogoVar
ERICH6B_chr13_45536294_45620739	45577276	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0130 a0005c0005t0001g0130	1	326	0.0031	23	c.962 others(40): Show c.962-2369_962-2347dupAAAAAAAAAAAAAAAAAAAAAAA	ERICH6B	ENSG00000165837.12	transcript	ENST00000298738.3	protein_coding	7/14			chr13	TogoVar
ERN1_chr17_64034142_64135144	64119376	G G	GTTGTTTT others(16): Show GTTGTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0033 a0001c0022t0033	a0001c0022t0033g0155 a0001c0022t0033g0155	1	234	0.0043	23	c.54+ others(40): Show c.54+10599_54+10600insAAAAAAAAAAAAAAAAAAAACAA	ERN1	ENSG00000178607.17	transcript	ENST00000433197.4	protein_coding	1/21			chr17	TogoVar
ERP44_chr9_99974185_100104000	100063075	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00609.hp2 HG03490.hp2 others(9): Show HG00597.hp1 HG00609.hp2 HG03490.hp2 HG03492.hp1 HG03927.hp1 NA18970.hp2 NA19005.hp1 NA19084.hp2 NA19089.hp2 NA19090.hp1 NA19091.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0001 a0001c0001t0015	a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0113 others(9): Show a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0113 a0001c0001t0001g0129 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0146 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0197 a0001c0001t0015g0147	12	220	0.0546	23	c.58- others(38): Show c.58-2904_58-2903insTTTTTTTTTTTTTTTTTTTTTTT	ERP44	ENSG00000023318.9	transcript	ENST00000262455.7	protein_coding	1/11			chr9	TogoVar
ERVV-2_chr19_53039740_53056680	53044536	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0016 a0001c0001t0009g0016	1	446	0.0022	23	c.-80 others(32): Show c.-808_-807insAAAAAAAAAAAAAAAAAAAAAAA	ERVV-2	ENSG00000268964.3	transcript	ENST00000601417.3	protein_coding		203		chr19	TogoVar
ERVV-2_chr19_53039740_53056680	53051136	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02257.hp1 HG02717.hp1 HG02257.hp1 HG02717.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0013 a0001c0001 a0007c0013	a0001c0001t0019 a0007c0013t0019 a0001c0001t0019 a0007c0013t0019	a0001c0001t0019g0010 a0007c0013t0019g0010 a0001c0001t0019g0010 a0007c0013t0019g0010	2	446	0.0045	23	c.28 others(32): Show c.283_*305dupTTTTTTTTTTTTTTTTTTTTTTT	ERVV-2	ENSG00000268964.3	transcript	ENST00000601417.3	protein_coding	2/2	306	INFO_REALIGN_3_PRIME	chr19	TogoVar
ESF1_chr20_13709325_13789919	13716804	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02818.hp1 NA18949.hp1 others(1): Show HG00544.hp1 HG02818.hp1 NA18949.hp1 NA18990.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0008 a0002c0003 others(1): Show a0001c0001 a0001c0008 a0002c0003 a0002c0010	a0001c0001t0001 a0001c0008t0001 a0002c0003t0001 others(1): Show a0001c0001t0001 a0001c0008t0001 a0002c0003t0001 a0002c0010t0001	a0001c0001t0001g0264 a0001c0008t0001g0314 a0002c0003t0001g0143 others(1): Show a0001c0001t0001g0264 a0001c0008t0001g0314 a0002c0003t0001g0143 a0002c0010t0001g0136	4	390	0.0103	23	c.226 others(40): Show c.2262+541_2262+563dupAAAAAAAAAAAAAAAAAAAAAAA	ESF1	ENSG00000089048.15	transcript	ENST00000617257.2	protein_coding	13/13			chr20	TogoVar
ESF1_chr20_13709325_13789919	13718753	C C	CATAAAAA others(16): Show CATAAAAAACAAAAAACAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00408.hp2 others(61): Show HG00140.hp1 HG00323.hp1 HG00408.hp2 HG00423.hp1 HG00735.hp2 HG00738.hp1 HG01081.hp1 HG01109.hp2 HG01361.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01975.hp2 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02071.hp2 HG02155.hp1 HG02273.hp1 HG02683.hp2 HG02818.hp1 HG03239.hp2 HG03491.hp2 HG03688.hp1 HG03831.hp1 HG03834.hp1 HG03927.hp1 HG03942.hp2 HG04184.hp1 HG04228.hp2 NA18747.hp1 NA18949.hp1 NA18950.hp2 NA18955.hp2 NA18956.hp2 NA18960.hp1 NA18963.hp1 NA18965.hp2 NA18970.hp1 NA18971.hp2 NA18974.hp1 NA18975.hp2 NA18989.hp2 NA18990.hp2 NA18993.hp2 NA18995.hp2 NA18998.hp1 NA19005.hp2 NA19009.hp2 NA19054.hp2 NA19064.hp1 NA19068.hp2 NA19074.hp2 NA19077.hp2 NA19078.hp2 NA19079.hp2 NA19080.hp1 NA19085.hp2 NA19087.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0008 others(1): Show a0001c0001 a0001c0005 a0001c0008 a0001c0012	a0001c0001t0001 a0001c0001t0009 a0001c0005t0001 others(2): Show a0001c0001t0001 a0001c0001t0009 a0001c0005t0001 a0001c0008t0001 a0001c0012t0001	a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0219 others(60): Show a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0239 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0315 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0367 a0001c0001t0009g0215 a0001c0005t0001g0016 a0001c0005t0001g0248 a0001c0005t0001g0249 a0001c0005t0001g0251 a0001c0005t0001g0252 a0001c0005t0001g0254 a0001c0005t0001g0255 a0001c0005t0001g0256 a0001c0005t0001g0257 a0001c0005t0001g0258 a0001c0005t0001g0259 a0001c0005t0001g0352 a0001c0008t0001g0314 a0001c0008t0001g0316 a0001c0012t0001g0250	64	390	0.1641	23	c.211 others(40): Show c.2115+154_2115+155insTTTTTTTGTTTTTTGTTTTTTAT	ESF1	ENSG00000089048.15	transcript	ENST00000617257.2	protein_coding	12/13			chr20	TogoVar
ESRP1_chr8_94636174_94712466	94636525	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp1 HG02615.hp2 HG01175.hp1 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0360 a0001c0001t0001g0227 a0001c0001t0001g0360	2	374	0.0054	23	c.-47 others(34): Show c.-4794_-4793insTTTTTTTTTTTTTTTTTTTTTTT	ESRP1	ENSG00000104413.18	transcript	ENST00000433389.8	protein_coding		4648		chr8	TogoVar
ESRP1_chr8_94636174_94712466	94667068	G G	GTGTGTGT others(16): Show GTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0362 a0001c0001t0001g0362	1	374	0.0027	23	c.932 others(38): Show c.932-881_932-880insTGTGTGTGTGTGTGTGTGTGTGT	ESRP1	ENSG00000104413.18	transcript	ENST00000433389.8	protein_coding	9/15			chr8	TogoVar
ESRP1_chr8_94636174_94712466	94682932	A A	ATATATAT others(16): Show ATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0365 a0001c0001t0001g0365	1	374	0.0027	23	c.182 others(42): Show c.1820+4562_1820+4563insATATATATATATATATATTTTTT	ESRP1	ENSG00000104413.18	transcript	ENST00000433389.8	protein_coding	13/15		INFO_REALIGN_3_PRIME	chr8	TogoVar

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