Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	chr	external
E2F8_chr11_19219063_19245945	19225862	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02615.hp1 HG02717.hp2 HG02818.hp2 others(3): Show HG02615.hp1 HG02717.hp2 HG02818.hp2 HG03453.hp1 HG03486.hp1 NA18906.hp1	a0002 a0002	a0002c0007 a0002c0009 a0002c0027 a0002c0007 a0002c0009 a0002c0027	a0002c0007t0004 a0002c0007t0011 a0002c0009t0011 others(1): Show a0002c0007t0004 a0002c0007t0011 a0002c0009t0011 a0002c0027t0011	a0002c0007t0004g0083 a0002c0007t0004g0108 a0002c0007t0011g0261 others(3): Show a0002c0007t0004g0083 a0002c0007t0004g0108 a0002c0007t0011g0261 a0002c0009t0011g0064 a0002c0009t0011g0247 a0002c0027t0011g0255	6	438	0.0137	0	c.189 others(4): Show c.1896C>T	p.Thr others(6): Show p.Thr632Thr	E2F8	ENSG00000129173.13	transcript	ENST00000250024.9	protein_coding	11/13	2403/3706	1896/2604	632/867	chr11	TogoVar
E2F8_chr11_19219063_19245945	19235058	T T	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG04199.hp1 HG04199.hp1	a0014 a0014	a0014c0025 a0014c0025	a0014c0025t0001 a0014c0025t0001	a0014c0025t0001g0233 a0014c0025t0001g0233	1	438	0.0023	0	c.452 others(3): Show c.452A>G	p.Asn others(6): Show p.Asn151Ser	E2F8	ENSG00000129173.13	transcript	ENST00000250024.9	protein_coding	5/13	959/3706	452/2604	151/867	chr11	TogoVar
E4F1_chr16_2218591_2240742	2229683	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0048 a0001c0003t0001g0048	1	392	0.0026	0	c.415 others(5): Show c.415+8G>A		E4F1	ENSG00000167967.16	transcript	ENST00000301727.9	protein_coding	3/13				chr16	TogoVar
E4F1_chr16_2218591_2240742	2234585	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0001 a0001c0018t0001	a0001c0018t0001g0011 a0001c0018t0001g0011	1	392	0.0026	0	c.159 others(4): Show c.1596C>T	p.Asn others(6): Show p.Asn532Asn	E4F1	ENSG00000167967.16	transcript	ENST00000301727.9	protein_coding	11/14	1619/2548	1596/2355	532/784	chr16	TogoVar
EAF1_chr3_15422598_15447613	15434345	CAGAGCTG others(20): Show CAGAGCTGAGGGCAGCAGTAAAATCCAG	C C	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG01081.hp1 HG01081.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0024 a0003c0008t0024	a0003c0008t0024g0106 a0003c0008t0024g0106	1	418	0.0024	-27	c.336 others(36): Show c.336-2_360delAGAGCTGAGGGCAGCAGTAAAATCCAG	p.Ala others(5): Show p.Ala113fs	EAF1	ENSG00000144597.14	transcript	ENST00000396842.7	protein_coding	4/6		336/807	112/268	chr3	TogoVar
EARS2_chr16_23515754_23562350	23520701	AAACAGAA others(67): Show AAACAGAAGACAGACGTCTGGAGCTGCTTTCAAGATAGCACAGCACACTT CACTTGAGGAAGTAGCAACAGCTTT	A A	splice_region_variant splice_region_variant	LOW	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0020 a0001c0007t0020	a0001c0007t0020g0050 a0001c0007t0020g0050	1	286	0.0035	-74	c.35 others(85): Show c.3596_*3669delAAAGCTGTTGCTACTTCCTCAAGTGAAGTGTGCT GTGCTATCTTGAAAGCAGCTCCAGACGTCTGTCTTCTGTT		EARS2	ENSG00000103356.18	transcript	ENST00000449606.7	protein_coding	9/9				chr16	TogoVar
EARS2_chr16_23515754_23562350	23529902	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(150): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp2 HG00423.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp2 HG00741.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp2 HG01934.hp2 HG01952.hp1 HG01993.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02145.hp1 HG02148.hp1 HG02165.hp1 HG02165.hp2 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp2 HG02630.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02896.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03669.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03927.hp2 HG03942.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18747.hp1 NA18948.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18954.hp2 NA18956.hp1 NA18957.hp2 NA18966.hp1 NA18968.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18975.hp2 NA18977.hp2 NA18979.hp1 NA18981.hp1 NA18981.hp2 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18993.hp1 NA18998.hp1 NA18998.hp2 NA19003.hp1 NA19004.hp1 NA19007.hp1 NA19009.hp1 NA19010.hp2 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19057.hp2 NA19060.hp2 NA19062.hp2 NA19067.hp2 NA19068.hp2 NA19074.hp2 NA19077.hp2 NA19081.hp2 NA19083.hp2 NA19084.hp1 NA19085.hp2 NA19088.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0006 others(1): Show a0001 a0003 a0006 a0007	a0001c0001 a0001c0008 a0003c0004 others(2): Show a0001c0001 a0001c0008 a0003c0004 a0006c0010 a0007c0009	a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 others(13): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0026 a0001c0001t0028 a0001c0001t0029 a0001c0008t0001 a0003c0004t0001 a0003c0004t0027 a0006c0010t0001 a0007c0009t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(117): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0176 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0004g0019 a0001c0001t0004g0105 a0001c0001t0004g0144 a0001c0001t0004g0159 a0001c0001t0004g0160 a0001c0001t0004g0231 a0001c0001t0011g0015 a0001c0001t0011g0082 a0001c0001t0012g0074 a0001c0001t0012g0106 a0001c0001t0012g0107 a0001c0001t0013g0115 a0001c0001t0013g0124 a0001c0001t0013g0132 a0001c0001t0015g0017 a0001c0001t0016g0152 a0001c0001t0016g0153 a0001c0001t0018g0131 a0001c0001t0026g0088 a0001c0001t0028g0155 a0001c0001t0029g0130 a0001c0008t0001g0111 a0003c0004t0001g0151 a0003c0004t0027g0141 a0006c0010t0001g0087 a0007c0009t0001g0071	153	286	0.5350	0	c.106 others(6): Show c.1068-5C>T		EARS2	ENSG00000103356.18	transcript	ENST00000449606.7	protein_coding	5/8				chr16	TogoVar
EBAG9_chr8_109535173_109570996	109550806	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0083 a0001c0001t0002g0083	1	356	0.0028	0	c.-15 others(5): Show c.-15-4A>G		EBAG9	ENSG00000147654.16	transcript	ENST00000337573.10	protein_coding	1/6				chr8	TogoVar
EBAG9_chr8_109535173_109570996	109553948	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01109.hp2 HG02630.hp1 HG02895.hp1 others(6): Show HG01109.hp2 HG02630.hp1 HG02895.hp1 HG02965.hp1 HG02976.hp1 HG03041.hp1 HG03139.hp2 HG03486.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0022 a0001c0001t0002 a0001c0001t0022	a0001c0001t0002g0049 a0001c0001t0002g0194 a0001c0001t0002g0195 others(5): Show a0001c0001t0002g0049 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0022g0198	9	356	0.0253	0	c.162 others(5): Show c.162+5G>T		EBAG9	ENSG00000147654.16	transcript	ENST00000337573.10	protein_coding	3/6				chr8	TogoVar
EBF2_chr8_25836725_26050413	25861305	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02257.hp1 HG02258.hp1 HG02647.hp1 others(6): Show HG02257.hp1 HG02258.hp1 HG02647.hp1 HG02723.hp2 HG02896.hp1 HG02897.hp1 HG03471.hp2 HG03579.hp2 NA19240.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0007 a0002c0003t0035 a0002c0003t0005 a0002c0003t0007 a0002c0003t0035	a0002c0003t0005g0027 a0002c0003t0005g0063 a0002c0003t0005g0064 others(6): Show a0002c0003t0005g0027 a0002c0003t0005g0063 a0002c0003t0005g0064 a0002c0003t0007g0205 a0002c0003t0007g0206 a0002c0003t0007g0210 a0002c0003t0007g0213 a0002c0003t0007g0215 a0002c0003t0035g0157	9	220	0.0409	0	c.116 others(6): Show c.1164+4A>G		EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding	12/15				chr8	TogoVar
EBF2_chr8_25836725_26050413	26040106	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0123 a0001c0002t0001g0123	1	220	0.0046	0	c.409 others(5): Show c.409-5C>T		EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding	4/15				chr8	TogoVar
EBF4_chr20_2687780_2765108	2749393	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01515.hp1 HG01517.hp2 NA20752.hp1 HG01515.hp1 HG01517.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026	3	388	0.0077	0	c.640 others(5): Show c.640-8C>T		EBF4	ENSG00000088881.22	transcript	ENST00000609451.6	protein_coding	7/16				chr20	TogoVar
EBF4_chr20_2687780_2765108	2749839	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02280.hp1 HG03130.hp2 HG02280.hp1 HG03130.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0159 a0001c0005t0001g0160 a0001c0005t0001g0159 a0001c0005t0001g0160	2	388	0.0052	0	c.892 others(5): Show c.892-8C>T		EBF4	ENSG00000088881.22	transcript	ENST00000609451.6	protein_coding	9/16				chr20	TogoVar
EBI3_chr19_4224523_4242528	4231326	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02451.hp2 HG02559.hp2 HG02886.hp2 others(3): Show HG02451.hp2 HG02559.hp2 HG02886.hp2 HG02922.hp2 HG03453.hp1 NA18906.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0036 a0002c0002t0001g0044 a0002c0002t0001g0166 others(1): Show a0002c0002t0001g0036 a0002c0002t0001g0044 a0002c0002t0001g0166 a0002c0002t0001g0167	6	438	0.0137	0	c.200 others(5): Show c.200+3C>T		EBI3	ENSG00000105246.6	transcript	ENST00000221847.6	protein_coding	2/4				chr19	TogoVar
EBI3_chr19_4224523_4242528	4231327	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18967.hp1 NA18991.hp2 NA19001.hp1 others(2): Show NA18967.hp1 NA18991.hp2 NA19001.hp1 NA19087.hp2 NA19088.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0019 a0002c0002t0002g0092 a0002c0002t0002g0093 a0002c0002t0002g0019 a0002c0002t0002g0092 a0002c0002t0002g0093	5	438	0.0114	0	c.200 others(5): Show c.200+4G>A		EBI3	ENSG00000105246.6	transcript	ENST00000221847.6	protein_coding	2/4				chr19	TogoVar
EBLN1_chr10_22203475_22223015	22212972	G G	GA GA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00735.hp1 HG01081.hp1 HG01192.hp1 others(18): Show HG00735.hp1 HG01081.hp1 HG01192.hp1 HG01884.hp1 HG01884.hp2 HG01975.hp1 HG02451.hp1 HG02559.hp1 HG02717.hp1 HG02896.hp1 HG02922.hp2 HG03098.hp1 HG03139.hp1 HG03195.hp2 HG03486.hp2 HG03516.hp1 HG03579.hp2 NA18906.hp1 NA19043.hp1 NA19240.hp2 NA20129.hp2	a0001 a0003 a0014 a0001 a0003 a0014	a0001c0001 a0003c0003 a0014c0016 a0001c0001 a0003c0003 a0014c0016	a0001c0001t0001 a0003c0003t0004 a0003c0003t0005 others(3): Show a0001c0001t0001 a0003c0003t0004 a0003c0003t0005 a0003c0003t0007 a0003c0003t0009 a0014c0016t0012	a0001c0001t0001g0024 a0003c0003t0004g0016 a0003c0003t0004g0017 others(7): Show a0001c0001t0001g0024 a0003c0003t0004g0016 a0003c0003t0004g0017 a0003c0003t0004g0030 a0003c0003t0004g0069 a0003c0003t0005g0021 a0003c0003t0005g0032 a0003c0003t0007g0020 a0003c0003t0009g0056 a0014c0016t0012g0068	21	432	0.0486	1	c.-16 others(7): Show c.-168-8dupT		EBLN1	ENSG00000223601.3	transcript	ENST00000422359.3	protein_coding	1/2				chr10	TogoVar
EBLN1_chr10_22203475_22223015	22212972	GA GA	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00642.hp2 HG02109.hp1 HG02145.hp2 others(17): Show HG00642.hp2 HG02109.hp1 HG02145.hp2 HG02257.hp1 HG02559.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp2 HG02922.hp1 HG02970.hp2 HG03130.hp1 HG03225.hp1 HG03486.hp1 HG03540.hp1 HG03688.hp1 HG03831.hp1 NA18906.hp2 NA18974.hp2 NA19030.hp2	a0002 a0007 a0008 a0002 a0007 a0008	a0002c0002 a0007c0008 a0008c0020 a0002c0002 a0007c0008 a0008c0020	a0002c0002t0002 a0002c0002t0006 a0007c0008t0001 others(1): Show a0002c0002t0002 a0002c0002t0006 a0007c0008t0001 a0008c0020t0006	a0002c0002t0002g0004 a0002c0002t0002g0009 a0002c0002t0002g0060 others(3): Show a0002c0002t0002g0004 a0002c0002t0002g0009 a0002c0002t0002g0060 a0002c0002t0006g0014 a0007c0008t0001g0035 a0008c0020t0006g0063	20	432	0.0463	-1	c.-16 others(7): Show c.-168-8delT		EBLN1	ENSG00000223601.3	transcript	ENST00000422359.3	protein_coding	1/2				chr10	TogoVar
EBNA1BP2_chr1_43159184_43177290	43164644	T T	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02735.hp1 HG02735.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0003 a0004c0006t0003	a0004c0006t0003g0049 a0004c0006t0003g0049	1	392	0.0026	0	c.869 others(3): Show c.869A>T	p.Asn others(6): Show p.Asn290Ile	EBNA1BP2	ENSG00000117395.13	transcript	ENST00000236051.3	protein_coding	8/9	1041/1352	869/921	290/306	chr1	TogoVar
EBNA1BP2_chr1_43159184_43177290	43167241	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	392	0.0026	0	c.538 others(5): Show c.538-6T>C		EBNA1BP2	ENSG00000117395.13	transcript	ENST00000236051.3	protein_coding	5/8				chr1	TogoVar
EBNA1BP2_chr1_43159184_43177290	43171878	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(51): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00438.hp1 HG00597.hp1 HG00733.hp2 HG00735.hp1 HG00741.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01255.hp2 HG01257.hp2 HG01346.hp1 HG01516.hp1 HG01943.hp1 HG02451.hp2 HG02602.hp1 HG02630.hp2 HG02717.hp2 HG02738.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG03195.hp1 HG03209.hp2 HG03491.hp1 HG03492.hp2 HG03540.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03834.hp1 HG03942.hp2 HG04199.hp2 HG04204.hp1 NA18906.hp2 NA18950.hp2 NA19070.hp1 NA20129.hp1 NA20805.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 a0002c0002t0004	a0001c0001t0001g0030 a0001c0001t0002g0014 a0002c0002t0002g0004 others(6): Show a0001c0001t0001g0030 a0001c0001t0002g0014 a0002c0002t0002g0004 a0002c0002t0002g0009 a0002c0002t0002g0017 a0002c0002t0002g0029 a0002c0002t0002g0051 a0002c0002t0002g0052 a0002c0002t0004g0013	54	392	0.1378	0	c.150 others(5): Show c.150+8T>C		EBNA1BP2	ENSG00000117395.13	transcript	ENST00000236051.3	protein_coding	2/8				chr1	TogoVar
ECD_chr10_73128668_73173008	73160428	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0123 a0001c0011t0001g0123	1	272	0.0037	0	c.323 others(5): Show c.323+6G>A		ECD	ENSG00000122882.11	transcript	ENST00000372979.9	protein_coding	3/13				chr10	TogoVar
ECD_chr10_73128668_73173008	73163951	CTA CTA	C C	splice_acceptor_variant others(2): Show splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG01074.hp1 HG01346.hp2 HG01884.hp2 others(6): Show HG01074.hp1 HG01346.hp2 HG01884.hp2 HG02257.hp2 HG02451.hp2 HG02809.hp1 NA18906.hp2 NA19043.hp2 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0014 a0002c0002t0003g0041 a0002c0002t0003g0042 others(5): Show a0002c0002t0003g0014 a0002c0002t0003g0041 a0002c0002t0003g0042 a0002c0002t0003g0043 a0002c0002t0003g0044 a0002c0002t0003g0045 a0002c0002t0003g0046 a0002c0002t0003g0047	9	272	0.0331	-2	c.-13 others(13): Show c.-13-3_-13-2delTA		ECD	ENSG00000122882.11	transcript	ENST00000372979.9	protein_coding	1/13				chr10	TogoVar
ECE1_chr1_21212250_21295463	21227230	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01074.hp2 HG01516.hp2 HG02895.hp1 others(1): Show HG01074.hp2 HG01516.hp2 HG02895.hp1 HG03486.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0006 a0001c0002 a0002c0006	a0001c0002t0011 a0002c0006t0015 a0002c0006t0016 a0001c0002t0011 a0002c0006t0015 a0002c0006t0016	a0001c0002t0011g0016 a0001c0002t0011g0241 a0002c0006t0015g0011 others(1): Show a0001c0002t0011g0016 a0001c0002t0011g0241 a0002c0006t0015g0011 a0002c0006t0016g0172	4	304	0.0132	0	c.178 others(6): Show c.1782-4C>A		ECE1	ENSG00000117298.16	transcript	ENST00000374893.11	protein_coding	15/18				chr1	TogoVar
ECE1_chr1_21212250_21295463	21233550	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	304	0.0033	0	c.167 others(6): Show c.1670+8C>T		ECE1	ENSG00000117298.16	transcript	ENST00000374893.11	protein_coding	14/18				chr1	TogoVar
ECE1_chr1_21212250_21295463	21235850	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0004 a0001c0013t0004	a0001c0013t0004g0268 a0001c0013t0004g0268	1	304	0.0033	0	c.156 others(4): Show c.1566C>T	p.Asp others(6): Show p.Asp522Asp	ECE1	ENSG00000117298.16	transcript	ENST00000374893.11	protein_coding	13/19	1615/5067	1566/2313	522/770	chr1	TogoVar
ECE1_chr1_21212250_21295463	21244982	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	304	0.0033	0	c.127 others(6): Show c.1278+7C>T		ECE1	ENSG00000117298.16	transcript	ENST00000374893.11	protein_coding	10/18				chr1	TogoVar
ECE1_chr1_21212250_21295463	21245108	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp2 HG00323.hp1 HG00558.hp1 others(41): Show HG00140.hp2 HG00323.hp1 HG00558.hp1 HG00639.hp1 HG00735.hp1 HG00738.hp1 HG01070.hp2 HG01109.hp1 HG01175.hp2 HG01255.hp1 HG01258.hp1 HG01358.hp2 HG01515.hp1 HG01517.hp2 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG02004.hp1 HG02129.hp1 HG02155.hp1 HG02258.hp2 HG02615.hp2 HG02683.hp1 HG03017.hp2 HG03688.hp2 HG03927.hp1 NA18951.hp2 NA18954.hp2 NA18959.hp2 NA18970.hp2 NA18982.hp2 NA18994.hp1 NA19005.hp1 NA19057.hp1 NA19063.hp2 NA19065.hp2 NA19068.hp1 NA19079.hp1 NA19090.hp1 NA19240.hp1 NA20805.hp2	a0001 a0004 a0008 a0001 a0004 a0008	a0001c0001 a0001c0003 a0001c0008 others(2): Show a0001c0001 a0001c0003 a0001c0008 a0004c0014 a0008c0015	a0001c0001t0002 a0001c0003t0001 a0001c0003t0002 others(5): Show a0001c0001t0002 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0036 a0001c0008t0002 a0004c0014t0021 a0008c0015t0001	a0001c0001t0002g0114 a0001c0001t0002g0123 a0001c0001t0002g0165 others(40): Show a0001c0001t0002g0114 a0001c0001t0002g0123 a0001c0001t0002g0165 a0001c0001t0002g0169 a0001c0003t0001g0005 a0001c0003t0001g0048 a0001c0003t0001g0145 a0001c0003t0001g0188 a0001c0003t0001g0208 a0001c0003t0001g0216 a0001c0003t0001g0217 a0001c0003t0001g0218 a0001c0003t0001g0222 a0001c0003t0002g0019 a0001c0003t0002g0021 a0001c0003t0002g0022 a0001c0003t0002g0046 a0001c0003t0002g0049 a0001c0003t0002g0050 a0001c0003t0002g0051 a0001c0003t0002g0066 a0001c0003t0002g0080 a0001c0003t0002g0082 a0001c0003t0002g0083 a0001c0003t0002g0085 a0001c0003t0002g0120 a0001c0003t0002g0139 a0001c0003t0002g0144 a0001c0003t0002g0151 a0001c0003t0002g0164 a0001c0003t0002g0171 a0001c0003t0002g0180 a0001c0003t0002g0193 a0001c0003t0002g0195 a0001c0003t0002g0209 a0001c0003t0002g0211 a0001c0003t0002g0219 a0001c0003t0003g0041 a0001c0003t0003g0042 a0001c0003t0036g0081 a0001c0008t0002g0194 a0004c0014t0021g0141 a0008c0015t0001g0030	44	304	0.1447	0	c.116 others(6): Show c.1164-5C>T		ECE1	ENSG00000117298.16	transcript	ENST00000374893.11	protein_coding	9/18				chr1	TogoVar
ECE1_chr1_21212250_21295463	21247362	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00140.hp1 HG01074.hp2 HG01255.hp2 others(3): Show HG00140.hp1 HG01074.hp2 HG01255.hp2 HG01516.hp2 HG02683.hp2 HG02698.hp1	a0002 a0002	a0002c0004 a0002c0006 a0002c0004 a0002c0006	a0002c0004t0006 a0002c0006t0015 a0002c0006t0016 a0002c0004t0006 a0002c0006t0015 a0002c0006t0016	a0002c0004t0006g0002 a0002c0004t0006g0010 a0002c0004t0006g0013 others(2): Show a0002c0004t0006g0002 a0002c0004t0006g0010 a0002c0004t0006g0013 a0002c0006t0015g0011 a0002c0006t0016g0172	6	304	0.0197	0	c.102 others(4): Show c.1022C>T	p.Thr others(6): Show p.Thr341Ile	ECE1	ENSG00000117298.16	transcript	ENST00000374893.11	protein_coding	9/19	1071/5067	1022/2313	341/770	chr1	TogoVar
ECE1_chr1_21212250_21295463	21257517	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01069.hp1 HG01243.hp2 HG02109.hp2 others(4): Show HG01069.hp1 HG01243.hp2 HG02109.hp2 HG02630.hp1 HG02886.hp1 NA18906.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0005 a0001c0001t0001 a0001c0002t0005	a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0251 others(4): Show a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0251 a0001c0001t0001g0269 a0001c0002t0005g0237 a0001c0002t0005g0242 a0001c0002t0005g0243	7	304	0.0230	0	c.828 others(5): Show c.828+8T>C		ECE1	ENSG00000117298.16	transcript	ENST00000374893.11	protein_coding	7/18				chr1	TogoVar
ECEL1_chr2_232474827_232492834	232480259	T T	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	438	0.0023	0	c.222 others(6): Show c.2229-7A>C		ECEL1	ENSG00000171551.12	transcript	ENST00000304546.6	protein_coding	17/17				chr2	TogoVar
ECEL1_chr2_232474827_232492834	232481085	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	438	0.0023	0	c.205 others(6): Show c.2055+6C>T		ECEL1	ENSG00000171551.12	transcript	ENST00000304546.6	protein_coding	15/17				chr2	TogoVar
ECEL1_chr2_232474827_232492834	232481637	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	438	0.0023	0	c.186 others(6): Show c.1865-7C>T		ECEL1	ENSG00000171551.12	transcript	ENST00000304546.6	protein_coding	13/17				chr2	TogoVar
ECEL1_chr2_232474827_232492834	232483410	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0097 a0001c0001t0002g0097	1	438	0.0023	0	c.150 others(6): Show c.1506+6G>T		ECEL1	ENSG00000171551.12	transcript	ENST00000304546.6	protein_coding	8/17				chr2	TogoVar
ECEL1_chr2_232474827_232492834	232484223	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0001 a0001c0017t0001	a0001c0017t0001g0059 a0001c0017t0001g0059	1	438	0.0023	0	c.118 others(4): Show c.1185G>A	p.Arg others(6): Show p.Arg395Arg	ECEL1	ENSG00000171551.12	transcript	ENST00000304546.6	protein_coding	7/18	1402/2871	1185/2328	395/775	chr2	TogoVar
ECEL1_chr2_232474827_232492834	232484900	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00733.hp2 HG00735.hp2 HG01074.hp1 HG00733.hp2 HG00735.hp2 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0029 a0001c0001t0002g0029	3	438	0.0069	0	c.967 others(5): Show c.967-7C>G		ECEL1	ENSG00000171551.12	transcript	ENST00000304546.6	protein_coding	4/17				chr2	TogoVar
ECEL1_chr2_232474827_232492834	232487711	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18987.hp1 NA18987.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0127 a0001c0001t0005g0127	1	438	0.0023	0	c.-10 others(6): Show c.-102+8G>C		ECEL1	ENSG00000171551.12	transcript	ENST00000304546.6	protein_coding	1/17				chr2	TogoVar
ECEL1_chr2_232474827_232492834	232487713	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	438	0.0023	0	c.-10 others(6): Show c.-102+6T>C		ECEL1	ENSG00000171551.12	transcript	ENST00000304546.6	protein_coding	1/17				chr2	TogoVar
ECEL1_chr2_232474827_232492834	232487716	T T	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18987.hp1 NA18987.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0127 a0001c0001t0005g0127	1	438	0.0023	0	c.-10 others(6): Show c.-102+3A>C		ECEL1	ENSG00000171551.12	transcript	ENST00000304546.6	protein_coding	1/17				chr2	TogoVar
ECEL1_chr2_232474827_232492834	232487721	G G	C C	splice_region_variant splice_region_variant	LOW	NA18987.hp1 NA18987.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0127 a0001c0001t0005g0127	1	438	0.0023	0	c.-10 others(4): Show c.-104C>G		ECEL1	ENSG00000171551.12	transcript	ENST00000304546.6	protein_coding	1/18				chr2	TogoVar
ECH1_chr19_38810422_38836794	38815423	TCTTTA TCTTTA	T T	splice_region_variant splice_region_variant	LOW	HG02647.hp2 HG02717.hp2 HG03486.hp1 others(2): Show HG02647.hp2 HG02717.hp2 HG03486.hp1 NA19030.hp2 NA19043.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0239 a0002c0002t0002g0240 a0002c0002t0002g0241 others(2): Show a0002c0002t0002g0239 a0002c0002t0002g0240 a0002c0002t0002g0241 a0002c0002t0002g0242 a0002c0002t0002g0243	5	420	0.0119	-5	c.18 others(14): Show c.185_*189delTAAAG		ECH1	ENSG00000104823.9	transcript	ENST00000221418.9	protein_coding	10/10				chr19	TogoVar
ECHDC2_chr1_52890910_52926740	52905095	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	314	0.0032	0	c.458 others(5): Show c.458-5A>G		ECHDC2	ENSG00000121310.17	transcript	ENST00000371522.9	protein_coding	5/9				chr1	TogoVar
ECHDC2_chr1_52890910_52926740	52911797	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0208 a0001c0001t0002g0208	1	314	0.0032	0	c.122 others(5): Show c.122-7C>T		ECHDC2	ENSG00000121310.17	transcript	ENST00000371522.9	protein_coding	1/9				chr1	TogoVar
ECHDC3_chr10_11737382_11769070	11747345	A A	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02976.hp2 NA19043.hp1 HG02976.hp2 NA19043.hp1	a0007 a0007	a0007c0014 a0007c0014	a0007c0014t0001 a0007c0014t0001	a0007c0014t0001g0194 a0007c0014t0001g0195 a0007c0014t0001g0194 a0007c0014t0001g0195	2	420	0.0048	0	c.171 others(5): Show c.171-4A>C		ECHDC3	ENSG00000134463.15	transcript	ENST00000379215.9	protein_coding	1/4				chr10	TogoVar
ECHDC3_chr10_11737382_11769070	11755405	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18963.hp2 NA18963.hp2	a0008 a0008	a0008c0016 a0008c0016	a0008c0016t0002 a0008c0016t0002	a0008c0016t0002g0064 a0008c0016t0002g0064	1	420	0.0024	0	c.391 others(5): Show c.391-3C>G		ECHDC3	ENSG00000134463.15	transcript	ENST00000379215.9	protein_coding	3/4				chr10	TogoVar
ECHDC3_chr10_11737382_11769070	11755408	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA18963.hp2 NA18963.hp2	a0008 a0008	a0008c0016 a0008c0016	a0008c0016t0002 a0008c0016t0002	a0008c0016t0002g0064 a0008c0016t0002g0064	1	420	0.0024	0	c.391 others(3): Show c.391G>A	p.Val others(6): Show p.Val131Ile	ECHDC3	ENSG00000134463.15	transcript	ENST00000379215.9	protein_coding	4/5	586/1633	391/912	131/303	chr10	TogoVar
ECHDC3_chr10_11737382_11769070	11755410	C C	G G	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	NA18963.hp2 NA18963.hp2	a0008 a0008	a0008c0016 a0008c0016	a0008c0016t0002 a0008c0016t0002	a0008c0016t0002g0064 a0008c0016t0002g0064	1	420	0.0024	0	c.393 others(3): Show c.393C>G	p.Val others(6): Show p.Val131Val	ECHDC3	ENSG00000134463.15	transcript	ENST00000379215.9	protein_coding	4/5	588/1633	393/912	131/303	chr10	TogoVar
ECHS1_chr10_133357485_133378354	133370552	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03490.hp2 HG04228.hp1 HG06807.hp2 HG03490.hp2 HG04228.hp1 HG06807.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0021 a0003c0003t0002g0021	3	354	0.0085	0	c.286 others(5): Show c.286+8C>T		ECHS1	ENSG00000127884.5	transcript	ENST00000368547.4	protein_coding	2/7				chr10	TogoVar
ECI2_chr6_4110706_4140575	4116028	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00140.hp2 HG00280.hp2 HG00323.hp2 others(145): Show HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00408.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00642.hp2 HG00735.hp1 HG01069.hp2 HG01070.hp2 HG01081.hp2 HG01099.hp2 HG01109.hp1 HG01123.hp1 HG01168.hp1 HG01192.hp2 HG01255.hp1 HG01257.hp2 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp2 HG01891.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02145.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02622.hp1 HG02717.hp2 HG02723.hp1 HG02895.hp1 HG02965.hp1 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03239.hp1 HG03486.hp1 HG03490.hp1 HG03492.hp2 HG03540.hp1 HG03688.hp1 HG03834.hp1 HG04184.hp2 HG04199.hp2 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18939.hp1 NA18941.hp2 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18947.hp1 NA18949.hp2 NA18951.hp1 NA18952.hp2 NA18954.hp1 NA18955.hp1 NA18956.hp1 NA18959.hp2 NA18966.hp1 NA18970.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp2 NA18974.hp2 NA18978.hp2 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18988.hp1 NA18989.hp2 NA18991.hp1 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18998.hp2 NA18999.hp2 NA19001.hp2 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19010.hp2 NA19030.hp1 NA19043.hp2 NA19057.hp1 NA19058.hp2 NA19060.hp1 NA19062.hp2 NA19063.hp1 NA19064.hp1 NA19065.hp1 NA19066.hp1 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19080.hp2 NA19084.hp2 NA19085.hp2 NA19086.hp1 NA19087.hp1 NA19089.hp2 NA19091.hp1 NA19240.hp2 NA20300.hp1 NA20805.hp1	a0002 a0003 a0004 others(3): Show a0002 a0003 a0004 a0005 a0008 a0010	a0002c0002 a0003c0003 a0004c0007 others(3): Show a0002c0002 a0003c0003 a0004c0007 a0005c0008 a0008c0011 a0010c0014	a0002c0002t0001 a0003c0003t0001 a0004c0007t0001 others(3): Show a0002c0002t0001 a0003c0003t0001 a0004c0007t0001 a0005c0008t0001 a0008c0011t0001 a0010c0014t0001	a0002c0002t0001g0002 a0002c0002t0001g0004 a0002c0002t0001g0009 others(54): Show a0002c0002t0001g0002 a0002c0002t0001g0004 a0002c0002t0001g0009 a0002c0002t0001g0012 a0002c0002t0001g0017 a0002c0002t0001g0019 a0002c0002t0001g0021 a0002c0002t0001g0025 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0038 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0069 a0002c0002t0001g0072 a0002c0002t0001g0078 a0002c0002t0001g0084 a0002c0002t0001g0124 a0002c0002t0001g0125 a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0001g0128 a0003c0003t0001g0005 a0003c0003t0001g0008 a0003c0003t0001g0024 a0003c0003t0001g0079 a0003c0003t0001g0113 a0003c0003t0001g0114 a0003c0003t0001g0116 a0003c0003t0001g0117 a0003c0003t0001g0118 a0003c0003t0001g0119 a0003c0003t0001g0120 a0003c0003t0001g0121 a0003c0003t0001g0122 a0004c0007t0001g0020 a0004c0007t0001g0046 a0005c0008t0001g0026 a0005c0008t0001g0042 a0008c0011t0001g0050 a0010c0014t0001g0129	148	370	0.4000	0	c.103 others(4): Show c.1031C>T	p.Ala others(6): Show p.Ala344Val	ECI2	ENSG00000198721.13	transcript	ENST00000380118.8	protein_coding	10/10	1046/1368	1031/1185	344/394	chr6	TogoVar
ECI2_chr6_4110706_4140575	4116032	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00280.hp2 HG01069.hp2 HG01070.hp2 others(27): Show HG00280.hp2 HG01069.hp2 HG01070.hp2 HG01081.hp2 HG01099.hp2 HG01168.hp1 HG01255.hp1 HG01257.hp2 HG01261.hp2 HG01361.hp2 HG01934.hp2 HG01943.hp2 HG01978.hp1 HG01981.hp1 HG02056.hp2 HG02074.hp1 HG02300.hp2 HG04199.hp2 NA18612.hp2 NA18939.hp1 NA18944.hp2 NA18947.hp1 NA18949.hp2 NA18966.hp1 NA18970.hp1 NA18982.hp1 NA18983.hp1 NA18991.hp1 NA18992.hp2 NA19068.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0004 a0002c0002t0001g0021 a0002c0002t0001g0031 others(7): Show a0002c0002t0001g0004 a0002c0002t0001g0021 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065	30	370	0.0811	0	c.103 others(6): Show c.1030-3C>T		ECI2	ENSG00000198721.13	transcript	ENST00000380118.8	protein_coding	9/9				chr6	TogoVar
ECI2_chr6_4110706_4140575	4119282	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp2 HG00280.hp2 HG00323.hp2 others(205): Show HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00408.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00642.hp2 HG00735.hp1 HG01069.hp2 HG01070.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01257.hp2 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03704.hp2 HG03834.hp1 HG04184.hp2 HG04199.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18941.hp2 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18947.hp1 NA18949.hp2 NA18951.hp1 NA18952.hp2 NA18954.hp1 NA18955.hp1 NA18956.hp1 NA18959.hp2 NA18966.hp1 NA18970.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp2 NA18974.hp2 NA18978.hp2 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18988.hp1 NA18989.hp2 NA18991.hp1 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18998.hp2 NA18999.hp2 NA19001.hp2 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19058.hp2 NA19060.hp1 NA19062.hp2 NA19063.hp1 NA19064.hp1 NA19065.hp1 NA19066.hp1 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19080.hp2 NA19084.hp2 NA19085.hp2 NA19086.hp1 NA19087.hp1 NA19089.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20805.hp1 NA21309.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0010	a0001c0001 a0001c0004 a0001c0005 others(10): Show a0001c0001 a0001c0004 a0001c0005 a0001c0006 a0001c0012 a0002c0002 a0003c0003 a0004c0007 a0005c0008 a0006c0009 a0007c0010 a0008c0011 a0010c0014	a0001c0001t0001 a0001c0004t0001 a0001c0005t0001 others(12): Show a0001c0001t0001 a0001c0004t0001 a0001c0005t0001 a0001c0006t0002 a0001c0006t0005 a0001c0012t0001 a0002c0002t0001 a0003c0003t0001 a0004c0007t0001 a0005c0008t0001 a0006c0009t0001 a0006c0009t0002 a0007c0010t0001 a0008c0011t0001 a0010c0014t0001	a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0022 others(81): Show a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0022 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0037 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0001g0093 a0001c0004t0001g0013 a0001c0004t0001g0014 a0001c0004t0001g0075 a0001c0004t0001g0076 a0001c0005t0001g0011 a0001c0005t0001g0073 a0001c0005t0001g0074 a0001c0006t0002g0018 a0001c0006t0002g0041 a0001c0006t0005g0040 a0001c0012t0001g0077 a0002c0002t0001g0002 a0002c0002t0001g0004 a0002c0002t0001g0009 a0002c0002t0001g0012 a0002c0002t0001g0017 a0002c0002t0001g0019 a0002c0002t0001g0021 a0002c0002t0001g0025 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0038 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0069 a0002c0002t0001g0072 a0002c0002t0001g0078 a0002c0002t0001g0084 a0002c0002t0001g0124 a0002c0002t0001g0125 a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0001g0128 a0003c0003t0001g0005 a0003c0003t0001g0008 a0003c0003t0001g0024 a0003c0003t0001g0079 a0003c0003t0001g0113 a0003c0003t0001g0114 a0003c0003t0001g0116 a0003c0003t0001g0117 a0003c0003t0001g0118 a0003c0003t0001g0119 a0003c0003t0001g0120 a0003c0003t0001g0121 a0003c0003t0001g0122 a0004c0007t0001g0020 a0004c0007t0001g0046 a0005c0008t0001g0026 a0005c0008t0001g0042 a0006c0009t0001g0068 a0006c0009t0002g0039 a0007c0010t0001g0071 a0008c0011t0001g0050 a0010c0014t0001g0129	208	370	0.5622	0	c.796 others(5): Show c.796-7T>C		ECI2	ENSG00000198721.13	transcript	ENST00000380118.8	protein_coding	7/9				chr6	TogoVar

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