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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ 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	status	chr	external
ELAVL1_chr19_7953573_8010641	7967796	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp1 HG00280.hp1 HG00280.hp2 others(62): Show HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00642.hp1 HG00733.hp1 HG00733.hp2 HG00738.hp2 HG01070.hp1 HG01071.hp2 HG01109.hp1 HG01109.hp2 HG01243.hp1 HG01256.hp2 HG01257.hp1 HG01346.hp1 HG01433.hp2 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG02004.hp1 HG02055.hp2 HG02145.hp1 HG02257.hp2 HG02280.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02602.hp1 HG02622.hp1 HG02647.hp1 HG02698.hp1 HG02717.hp2 HG02922.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03471.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03927.hp1 NA18952.hp1 NA18959.hp1 NA18960.hp1 NA18961.hp2 NA18962.hp2 NA18964.hp2 NA18968.hp2 NA18969.hp2 NA18980.hp2 NA19009.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19065.hp2 NA19090.hp1 NA20129.hp1 NA20752.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0012 a0001c0001t0013 others(13): Show a0001c0001t0001 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0018 a0001c0001t0025 a0001c0001t0036 a0001c0002t0004 a0001c0002t0005 a0001c0002t0009 a0001c0002t0011 a0001c0002t0016 a0001c0002t0026 a0001c0002t0027 a0001c0002t0028 a0001c0002t0029	a0001c0001t0001g0042 a0001c0001t0001g0046 a0001c0001t0001g0047 others(53): Show a0001c0001t0001g0042 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0012g0234 a0001c0001t0012g0235 a0001c0001t0012g0236 a0001c0001t0013g0037 a0001c0001t0013g0043 a0001c0001t0013g0045 a0001c0001t0015g0041 a0001c0001t0015g0044 a0001c0001t0015g0198 a0001c0001t0018g0039 a0001c0001t0025g0038 a0001c0001t0036g0040 a0001c0002t0004g0004 a0001c0002t0004g0019 a0001c0002t0004g0020 a0001c0002t0004g0221 a0001c0002t0004g0222 a0001c0002t0004g0223 a0001c0002t0004g0224 a0001c0002t0004g0225 a0001c0002t0004g0226 a0001c0002t0004g0227 a0001c0002t0004g0228 a0001c0002t0004g0229 a0001c0002t0004g0237 a0001c0002t0004g0238 a0001c0002t0005g0016 a0001c0002t0005g0017 a0001c0002t0005g0018 a0001c0002t0005g0206 a0001c0002t0005g0207 a0001c0002t0005g0208 a0001c0002t0005g0212 a0001c0002t0005g0214 a0001c0002t0005g0215 a0001c0002t0005g0216 a0001c0002t0005g0217 a0001c0002t0005g0218 a0001c0002t0009g0021 a0001c0002t0009g0230 a0001c0002t0009g0231 a0001c0002t0009g0232 a0001c0002t0011g0024 a0001c0002t0011g0025 a0001c0002t0011g0026 a0001c0002t0011g0027 a0001c0002t0016g0220 a0001c0002t0016g0233 a0001c0002t0026g0209 a0001c0002t0027g0204 a0001c0002t0028g0205 a0001c0002t0029g0213	65	276	0.2355	0	c.431 others(5): Show c.431-6G>A		ELAVL1	ENSG00000066044.15	transcript	ENST00000407627.7	protein_coding	4/5					chr19	TogoVar
ELAVL4_chr1_50103920_50208772	50200843	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(164): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00609.hp1 HG00609.hp2 HG00642.hp2 HG00673.hp1 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01515.hp1 HG01515.hp2 HG01891.hp2 HG01993.hp1 HG01993.hp2 HG02040.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02896.hp2 HG02965.hp1 HG02976.hp2 HG03239.hp2 HG03453.hp2 HG03486.hp1 HG03492.hp1 HG03492.hp2 HG03540.hp2 HG03579.hp2 HG03669.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03942.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp2 NA18942.hp1 NA18948.hp2 NA18950.hp2 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18959.hp1 NA18959.hp2 NA18962.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18975.hp2 NA18977.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18987.hp2 NA18988.hp1 NA18990.hp1 NA18997.hp2 NA19000.hp2 NA19005.hp2 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19057.hp1 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19064.hp2 NA19065.hp2 NA19079.hp1 NA19081.hp2 NA19082.hp1 NA19083.hp1 NA19086.hp1 NA19086.hp2 NA19091.hp2 NA19240.hp2 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 others(163): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0089 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0235 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0250 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0267 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0006g0101 a0001c0001t0006g0110 a0001c0001t0006g0111 a0001c0001t0009g0131 a0001c0001t0010g0128 a0001c0001t0012g0148 a0001c0001t0014g0021	167	276	0.6051	0	c.774 others(5): Show c.774-8C>T		ELAVL4	ENSG00000162374.18	transcript	ENST00000371824.7	protein_coding	6/6					chr1	TogoVar
ELF5_chr11_34473791_34518794	34490063	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0244 a0001c0001t0003g0244	1	436	0.0023	0	c.356 others(5): Show c.356-4C>A		ELF5	ENSG00000135374.11	transcript	ENST00000257832.7	protein_coding	3/6					chr11	TogoVar
ELF5_chr11_34473791_34518794	34493715	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0214 a0001c0001t0002g0214	1	436	0.0023	0	c.122 others(5): Show c.122-3C>A		ELF5	ENSG00000135374.11	transcript	ENST00000257832.7	protein_coding	2/6					chr11	TogoVar
ELFN1_chr7_1665277_1752946	1688031	A A	AT AT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00280.hp1 HG00280.hp2 HG01168.hp1 others(28): Show HG00280.hp1 HG00280.hp2 HG01168.hp1 HG01175.hp1 HG01891.hp1 HG01934.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp2 HG02109.hp2 HG02280.hp2 HG02486.hp2 HG02559.hp2 HG02630.hp2 HG02723.hp1 HG02886.hp1 HG03098.hp2 HG03195.hp1 HG03225.hp2 HG03516.hp2 HG03710.hp1 NA18522.hp2 NA19000.hp2 NA19004.hp1 NA19009.hp1 NA19030.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0004 others(5): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0007 a0002c0003 a0002c0024 a0004c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0019 a0001c0001t0055 a0001c0002t0003 a0001c0002t0004 a0001c0004t0034 a0001c0005t0010 a0001c0007t0005 a0002c0003t0024 a0002c0003t0050 a0002c0024t0030 a0004c0009t0001	a0001c0001t0001g0015 a0001c0001t0001g0096 a0001c0001t0001g0125 others(28): Show a0001c0001t0001g0015 a0001c0001t0001g0096 a0001c0001t0001g0125 a0001c0001t0001g0145 a0001c0001t0001g0240 a0001c0001t0001g0298 a0001c0001t0002g0198 a0001c0001t0002g0287 a0001c0001t0005g0048 a0001c0001t0005g0294 a0001c0001t0006g0128 a0001c0001t0009g0044 a0001c0001t0009g0119 a0001c0001t0009g0120 a0001c0001t0009g0121 a0001c0001t0019g0154 a0001c0001t0055g0297 a0001c0002t0003g0111 a0001c0002t0004g0236 a0001c0004t0034g0126 a0001c0005t0010g0143 a0001c0005t0010g0146 a0001c0005t0010g0147 a0001c0005t0010g0148 a0001c0007t0005g0127 a0001c0007t0005g0129 a0001c0007t0005g0185 a0002c0003t0024g0144 a0002c0003t0050g0179 a0002c0024t0030g0020 a0004c0009t0001g0109	31	302	0.1027	1	c.-54 others(7): Show c.-548-5dupT		ELFN1	ENSG00000225968.8	transcript	ENST00000424383.5	protein_coding	1/3				INFO_REALIGN_3_PRIME	chr7	TogoVar
ELFN1_chr7_1665277_1752946	1688031	AT AT	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01167.hp2 HG02145.hp1 HG02451.hp2 others(12): Show HG01167.hp2 HG02145.hp1 HG02451.hp2 HG02572.hp1 HG02615.hp2 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02818.hp1 HG02895.hp1 HG03041.hp1 HG03130.hp1 HG03209.hp2 HG03453.hp1 HG03579.hp1	a0001 a0002 a0014 a0001 a0002 a0014	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0014c0022	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0012 a0001c0001t0029 a0001c0001t0052 a0001c0002t0004 a0002c0003t0024 a0014c0022t0001	a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0035 others(12): Show a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0035 a0001c0001t0001g0155 a0001c0001t0003g0024 a0001c0001t0005g0027 a0001c0001t0005g0150 a0001c0001t0006g0118 a0001c0001t0008g0021 a0001c0001t0012g0184 a0001c0001t0029g0023 a0001c0001t0052g0026 a0001c0002t0004g0277 a0002c0003t0024g0183 a0014c0022t0001g0025	15	302	0.0497	-1	c.-54 others(7): Show c.-548-5delT		ELFN1	ENSG00000225968.8	transcript	ENST00000424383.5	protein_coding	1/3				INFO_REALIGN_3_PRIME	chr7	TogoVar
ELFN1_chr7_1665277_1752946	1688031	ATTTTTTT others(1): Show ATTTTTTTT	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00423.hp1 HG00438.hp1 HG00621.hp1 others(23): Show HG00423.hp1 HG00438.hp1 HG00621.hp1 HG01106.hp2 HG01109.hp2 HG01175.hp2 HG01243.hp1 HG01934.hp1 HG02074.hp1 HG02145.hp2 HG02647.hp2 HG02698.hp1 HG02735.hp1 HG03669.hp1 HG03942.hp2 HG04115.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18944.hp1 NA18963.hp2 NA19003.hp1 NA19009.hp2 NA19055.hp1 NA19060.hp2 NA20905.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0003c0006 a0005c0010	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(15): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0012 a0001c0001t0015 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0002t0003 a0001c0002t0004 a0001c0002t0018 a0001c0004t0054 a0003c0006t0016 a0005c0010t0045 a0005c0010t0046	a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0003g0039 others(23): Show a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0003g0039 a0001c0001t0005g0156 a0001c0001t0006g0157 a0001c0001t0007g0166 a0001c0001t0007g0167 a0001c0001t0007g0168 a0001c0001t0007g0202 a0001c0001t0012g0149 a0001c0001t0015g0163 a0001c0001t0015g0170 a0001c0001t0015g0176 a0001c0001t0040g0040 a0001c0001t0041g0171 a0001c0001t0042g0165 a0001c0001t0043g0164 a0001c0002t0003g0189 a0001c0002t0004g0057 a0001c0002t0004g0153 a0001c0002t0018g0032 a0001c0002t0018g0033 a0001c0004t0054g0169 a0003c0006t0016g0182 a0005c0010t0045g0151 a0005c0010t0046g0152	26	302	0.0861	-8	c.-54 others(22): Show c.-548-12_-548-5delTTTTTTTT		ELFN1	ENSG00000225968.8	transcript	ENST00000424383.5	protein_coding	1/3				INFO_REALIGN_3_PRIME	chr7	TogoVar
ELFN1_chr7_1665277_1752946	1688031	ATTTTTTT others(2): Show ATTTTTTTTT	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01243.hp2 HG02451.hp1 HG02622.hp2 others(13): Show HG01243.hp2 HG02451.hp1 HG02622.hp2 HG02717.hp1 HG02896.hp2 HG02922.hp2 HG03139.hp1 HG03195.hp2 HG03453.hp2 HG03486.hp1 HG03540.hp2 HG03579.hp2 NA18522.hp1 NA18906.hp1 NA19043.hp2 NA20805.hp2	a0001 a0007 a0015 a0001 a0007 a0015	a0001c0001 a0001c0005 a0007c0012 others(1): Show a0001c0001 a0001c0005 a0007c0012 a0015c0023	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0016 a0001c0001t0020 a0001c0001t0026 a0001c0001t0048 a0001c0005t0010 a0007c0012t0032 a0015c0023t0003	a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0003g0133 others(13): Show a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0003g0133 a0001c0001t0003g0134 a0001c0001t0003g0186 a0001c0001t0005g0136 a0001c0001t0006g0028 a0001c0001t0008g0123 a0001c0001t0008g0131 a0001c0001t0016g0030 a0001c0001t0020g0132 a0001c0001t0026g0135 a0001c0001t0048g0124 a0001c0005t0010g0141 a0007c0012t0032g0159 a0015c0023t0003g0130	16	302	0.0530	-9	c.-54 others(23): Show c.-548-13_-548-5delTTTTTTTTT		ELFN1	ENSG00000225968.8	transcript	ENST00000424383.5	protein_coding	1/3				INFO_REALIGN_3_PRIME	chr7	TogoVar
ELFN1_chr7_1665277_1752946	1744242	CGTCCCCT others(19): Show CGTCCCCTGACCGCTGTCTTCTCTCTT	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp2 HG00423.hp2 HG00438.hp2 others(97): Show HG00140.hp2 HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00621.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01109.hp1 HG01123.hp2 HG01255.hp2 HG01261.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01884.hp1 HG01934.hp1 HG01934.hp2 HG01975.hp2 HG01993.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02071.hp1 HG02071.hp2 HG02083.hp1 HG02109.hp1 HG02135.hp1 HG02135.hp2 HG02165.hp1 HG02258.hp2 HG02451.hp1 HG02451.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02717.hp1 HG02717.hp2 HG02738.hp2 HG02809.hp2 HG02895.hp2 HG02922.hp2 HG03098.hp1 HG03130.hp1 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03490.hp1 HG03490.hp2 HG03516.hp1 HG03688.hp1 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04204.hp1 HG04228.hp2 NA18906.hp1 NA18941.hp1 NA18943.hp1 NA18945.hp1 NA18946.hp2 NA18947.hp1 NA18953.hp1 NA18960.hp1 NA18960.hp2 NA18967.hp1 NA18970.hp1 NA18970.hp2 NA18977.hp1 NA18983.hp2 NA18993.hp1 NA18995.hp2 NA19003.hp2 NA19005.hp1 NA19009.hp1 NA19055.hp2 NA19065.hp1 NA19065.hp2 NA19074.hp1 NA19081.hp1 NA19082.hp1 NA19087.hp1 NA19089.hp1 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1	a0001 a0004 a0008 others(3): Show a0001 a0004 a0008 a0012 a0013 a0014	a0001c0001 a0001c0002 a0001c0014 others(6): Show a0001c0001 a0001c0002 a0001c0014 a0001c0018 a0004c0009 a0008c0013 a0012c0019 a0013c0017 a0014c0022	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0013 a0001c0001t0017 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0033 a0001c0001t0047 a0001c0001t0056 a0001c0001t0059 a0001c0001t0060 a0001c0002t0007 a0001c0014t0001 a0001c0018t0001 a0004c0009t0001 a0008c0013t0020 a0012c0019t0001 a0013c0017t0001 a0014c0022t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(97): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0029 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0045 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0072 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0125 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0001t0001g0155 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0188 a0001c0001t0001g0192 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0210 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0230 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0245 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0261 a0001c0001t0001g0280 a0001c0001t0001g0283 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0002g0088 a0001c0001t0002g0284 a0001c0001t0002g0287 a0001c0001t0003g0186 a0001c0001t0013g0087 a0001c0001t0013g0199 a0001c0001t0013g0231 a0001c0001t0013g0274 a0001c0001t0017g0080 a0001c0001t0017g0099 a0001c0001t0017g0101 a0001c0001t0017g0197 a0001c0001t0020g0009 a0001c0001t0020g0132 a0001c0001t0021g0082 a0001c0001t0021g0263 a0001c0001t0021g0276 a0001c0001t0022g0073 a0001c0001t0022g0253 a0001c0001t0022g0264 a0001c0001t0033g0248 a0001c0001t0033g0285 a0001c0001t0047g0051 a0001c0001t0056g0195 a0001c0001t0059g0083 a0001c0001t0060g0246 a0001c0002t0007g0050 a0001c0014t0001g0001 a0001c0018t0001g0065 a0004c0009t0001g0109 a0004c0009t0001g0250 a0008c0013t0020g0091 a0012c0019t0001g0256 a0013c0017t0001g0217 a0014c0022t0001g0025	100	302	0.3311	-26	c.-29 others(40): Show c.-293-32_-293-7delCCCTGACCGCTGTCTTCTCTCTTGTC		ELFN1	ENSG00000225968.8	transcript	ENST00000424383.5	protein_coding	3/3				INFO_REALIGN_3_PRIME	chr7	TogoVar
ELK1_chrX_47630521_47655563	47636929	TG TG	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0034 a0001c0001t0007g0034	1	276	0.0036	-1	c.118 others(7): Show c.1189-3delC		ELK1	ENSG00000126767.18	transcript	ENST00000376983.8	protein_coding	6/6					chrX	TogoVar
ELK3_chr12_96189375_96274824	96259723	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(320): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18959.hp1 NA18959.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18972.hp1 NA18972.hp2 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18982.hp2 NA18989.hp1 NA18989.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19068.hp1 NA19068.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19081.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0004 a0001c0005 others(8): Show a0001c0001 a0001c0004 a0001c0005 a0001c0007 a0001c0008 a0001c0011 a0002c0002 a0002c0010 a0003c0003 a0004c0006 a0005c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(31): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0001t0025 a0001c0004t0001 a0001c0005t0002 a0001c0007t0022 a0001c0008t0001 a0001c0011t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0012 a0002c0002t0024 a0002c0010t0015 a0003c0003t0001 a0004c0006t0008 a0005c0009t0006	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(313): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0104 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0143 a0001c0001t0001g0149 a0001c0001t0001g0163 a0001c0001t0001g0166 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0192 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0260 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0273 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0283 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0289 a0001c0001t0001g0293 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0324 a0001c0001t0001g0326 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0344 a0001c0001t0001g0346 a0001c0001t0002g0009 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0050 a0001c0001t0002g0107 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0148 a0001c0001t0002g0164 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0184 a0001c0001t0002g0187 a0001c0001t0002g0229 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0002g0328 a0001c0001t0002g0332 a0001c0001t0002g0334 a0001c0001t0002g0336 a0001c0001t0002g0339 a0001c0001t0003g0020 a0001c0001t0003g0049 a0001c0001t0003g0052 a0001c0001t0003g0054 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0076 a0001c0001t0003g0079 a0001c0001t0003g0130 a0001c0001t0003g0131 a0001c0001t0003g0136 a0001c0001t0003g0137 a0001c0001t0003g0138 a0001c0001t0003g0141 a0001c0001t0003g0142 a0001c0001t0003g0144 a0001c0001t0003g0147 a0001c0001t0003g0152 a0001c0001t0003g0156 a0001c0001t0003g0157 a0001c0001t0003g0158 a0001c0001t0003g0159 a0001c0001t0003g0160 a0001c0001t0003g0169 a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0003g0337 a0001c0001t0004g0008 a0001c0001t0004g0041 a0001c0001t0004g0043 a0001c0001t0004g0044 a0001c0001t0004g0065 a0001c0001t0004g0105 a0001c0001t0004g0106 a0001c0001t0004g0115 a0001c0001t0004g0125 a0001c0001t0004g0140 a0001c0001t0004g0145 a0001c0001t0004g0150 a0001c0001t0004g0151 a0001c0001t0004g0179 a0001c0001t0004g0212 a0001c0001t0004g0299 a0001c0001t0004g0302 a0001c0001t0004g0303 a0001c0001t0004g0305 a0001c0001t0004g0307 a0001c0001t0004g0320 a0001c0001t0005g0006 a0001c0001t0005g0024 a0001c0001t0005g0095 a0001c0001t0005g0193 a0001c0001t0005g0194 a0001c0001t0005g0195 a0001c0001t0005g0196 a0001c0001t0005g0197 a0001c0001t0005g0198 a0001c0001t0005g0238 a0001c0001t0005g0261 a0001c0001t0005g0262 a0001c0001t0005g0271 a0001c0001t0005g0272 a0001c0001t0005g0290 a0001c0001t0005g0304 a0001c0001t0005g0338 a0001c0001t0005g0340 a0001c0001t0005g0341 a0001c0001t0005g0342 a0001c0001t0006g0003 a0001c0001t0006g0045 a0001c0001t0006g0046 a0001c0001t0006g0047 a0001c0001t0006g0055 a0001c0001t0006g0135 a0001c0001t0006g0139 a0001c0001t0006g0190 a0001c0001t0006g0204 a0001c0001t0006g0208 a0001c0001t0006g0209 a0001c0001t0006g0210 a0001c0001t0006g0219 a0001c0001t0006g0220 a0001c0001t0006g0274 a0001c0001t0006g0288 a0001c0001t0006g0333 a0001c0001t0007g0001 a0001c0001t0007g0051 a0001c0001t0007g0114 a0001c0001t0007g0126 a0001c0001t0007g0165 a0001c0001t0007g0211 a0001c0001t0007g0287 a0001c0001t0007g0291 a0001c0001t0007g0292 a0001c0001t0008g0096 a0001c0001t0008g0097 a0001c0001t0008g0098 a0001c0001t0008g0099 a0001c0001t0008g0101 a0001c0001t0008g0102 a0001c0001t0008g0284 a0001c0001t0009g0014 a0001c0001t0009g0015 a0001c0001t0009g0016 a0001c0001t0009g0017 a0001c0001t0009g0018 a0001c0001t0009g0019 a0001c0001t0010g0119 a0001c0001t0010g0234 a0001c0001t0010g0254 a0001c0001t0010g0258 a0001c0001t0010g0301 a0001c0001t0011g0031 a0001c0001t0011g0080 a0001c0001t0011g0081 a0001c0001t0011g0082 a0001c0001t0013g0011 a0001c0001t0013g0012 a0001c0001t0014g0231 a0001c0001t0016g0214 a0001c0001t0017g0127 a0001c0001t0018g0250 a0001c0001t0019g0086 a0001c0001t0020g0181 a0001c0001t0021g0325 a0001c0001t0023g0239 a0001c0001t0025g0309 a0001c0004t0001g0189 a0001c0005t0002g0335 a0001c0007t0022g0103 a0001c0008t0001g0281 a0001c0011t0001g0222 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0064 a0002c0002t0002g0062 a0002c0002t0002g0083 a0002c0002t0002g0085 a0002c0002t0002g0090 a0002c0002t0002g0094 a0002c0002t0002g0108 a0002c0002t0002g0133 a0002c0002t0002g0154 a0002c0002t0002g0155 a0002c0002t0002g0161 a0002c0002t0002g0162 a0002c0002t0002g0170 a0002c0002t0002g0175 a0002c0002t0002g0176 a0002c0002t0002g0177 a0002c0002t0002g0185 a0002c0002t0002g0191 a0002c0002t0002g0221 a0002c0002t0002g0227 a0002c0002t0002g0259 a0002c0002t0002g0282 a0002c0002t0002g0300 a0002c0002t0002g0308 a0002c0002t0002g0345 a0002c0002t0012g0146 a0002c0002t0012g0178 a0002c0002t0024g0084 a0002c0010t0015g0153 a0003c0003t0001g0246 a0003c0003t0001g0247 a0004c0006t0008g0100 a0005c0009t0006g0069	323	354	0.9124	0	c.100 others(6): Show c.1003-8C>T		ELK3	ENSG00000111145.8	transcript	ENST00000228741.8	protein_coding	3/4					chr12	TogoVar
ELK3_chr12_96189375_96274824	96259860	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02809.hp2 HG02818.hp1 HG03209.hp1 others(1): Show HG02809.hp2 HG02818.hp1 HG03209.hp1 HG03225.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0024 a0002c0002t0002 a0002c0002t0024	a0002c0002t0002g0083 a0002c0002t0002g0085 a0002c0002t0002g0170 others(1): Show a0002c0002t0002g0083 a0002c0002t0002g0085 a0002c0002t0002g0170 a0002c0002t0024g0084	4	354	0.0113	0	c.112 others(6): Show c.1125+7G>A		ELK3	ENSG00000111145.8	transcript	ENST00000228741.8	protein_coding	4/4					chr12	TogoVar
ELK4_chr1_205602943_205637011	205619080	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01069.hp2 HG01071.hp1 HG02559.hp1 others(2): Show HG01069.hp2 HG01071.hp1 HG02559.hp1 HG03453.hp2 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0020 a0001c0002t0027 a0001c0002t0020 a0001c0002t0027	a0001c0002t0020g0143 a0001c0002t0020g0144 a0001c0002t0020g0148 others(1): Show a0001c0002t0020g0143 a0001c0002t0020g0144 a0001c0002t0020g0148 a0001c0002t0027g0034	5	424	0.0118	0	c.108 others(6): Show c.1081-7A>G		ELK4	ENSG00000158711.14	transcript	ENST00000357992.9	protein_coding	3/4					chr1	TogoVar
ELL2_chr5_95880098_95966851	95885100	G G	T T	splice_region_variant splice_region_variant	LOW	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0231 a0001c0001t0017g0231	1	314	0.0032	0	c.37 others(5): Show c.3771C>A		ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	12/12					chr5	TogoVar
ELL2_chr5_95880098_95966851	95889079	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01975.hp1 NA18951.hp2 NA18957.hp1 others(8): Show HG01975.hp1 NA18951.hp2 NA18957.hp1 NA18961.hp2 NA18966.hp2 NA18975.hp1 NA18981.hp1 NA18989.hp1 NA19009.hp1 NA19011.hp2 NA19070.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0004 a0001c0003t0004g0005 a0001c0003t0004g0033 others(6): Show a0001c0003t0004g0004 a0001c0003t0004g0005 a0001c0003t0004g0033 a0001c0003t0004g0040 a0001c0003t0004g0041 a0001c0003t0004g0043 a0001c0003t0004g0044 a0001c0003t0004g0045 a0001c0003t0004g0046	11	314	0.0350	0	c.180 others(6): Show c.1806+7A>G		ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	11/11					chr5	TogoVar
ELL2_chr5_95880098_95966851	95942994	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0298 a0001c0001t0003g0298	1	314	0.0032	0	c.195 others(5): Show c.195+8C>T		ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	2/11					chr5	TogoVar
ELL3_chr15_43767620_43781966	43773297	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0015 a0001c0005t0001g0015	1	372	0.0027	0	c.108 others(6): Show c.1083+7C>A		ELL3	ENSG00000128886.12	transcript	ENST00000319359.8	protein_coding	10/10					chr15	TogoVar
ELL3_chr15_43767620_43781966	43774591	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00408.hp2 HG00597.hp1 NA18953.hp2 others(3): Show HG00408.hp2 HG00597.hp1 NA18953.hp2 NA19058.hp2 NA19081.hp1 NA19086.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0005 a0002c0002t0002g0005	6	372	0.0161	0	c.823 others(5): Show c.823+5G>A		ELL3	ENSG00000128886.12	transcript	ENST00000319359.8	protein_coding	7/10					chr15	TogoVar
ELL_chr19_18437663_18527070	18465791	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	244	0.0041	0	c.305 others(5): Show c.305+6G>C		ELL	ENSG00000105656.13	transcript	ENST00000262809.9	protein_coding	3/11					chr19	TogoVar
ELL_chr19_18437663_18527070	18472886	T T	TA TA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00408.hp2 HG01109.hp1 HG01346.hp2 others(25): Show HG00408.hp2 HG01109.hp1 HG01346.hp2 HG01884.hp2 HG01952.hp1 HG02004.hp1 HG02145.hp2 HG02257.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02630.hp2 HG02647.hp2 HG02738.hp1 HG02809.hp1 HG02896.hp2 HG02970.hp1 HG02976.hp2 HG03130.hp2 HG03139.hp2 HG03209.hp2 HG03471.hp1 HG03516.hp1 NA18961.hp2 NA18985.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0001t0017 a0002c0002t0001 a0002c0002t0005 a0002c0002t0008 a0002c0002t0019	a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0209 others(25): Show a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0209 a0001c0001t0001g0233 a0001c0001t0001g0237 a0001c0001t0002g0039 a0001c0001t0002g0064 a0001c0001t0002g0105 a0001c0001t0003g0107 a0001c0001t0011g0115 a0001c0001t0017g0194 a0002c0002t0001g0012 a0002c0002t0001g0014 a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0136 a0002c0002t0001g0137 a0002c0002t0001g0140 a0002c0002t0001g0141 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0005g0117 a0002c0002t0005g0120 a0002c0002t0005g0123 a0002c0002t0005g0128 a0002c0002t0008g0116 a0002c0002t0008g0119 a0002c0002t0019g0131	28	244	0.1148	1	c.136 others(6): Show c.136-5dupT		ELL	ENSG00000105656.13	transcript	ENST00000262809.9	protein_coding	1/11					chr19	TogoVar
ELL_chr19_18437663_18527070	18472886	TA TA	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00323.hp1 HG01069.hp1 HG01069.hp2 others(18): Show HG00323.hp1 HG01069.hp1 HG01069.hp2 HG01074.hp2 HG01167.hp2 HG01169.hp1 HG01258.hp2 HG01516.hp2 HG01943.hp1 HG01975.hp1 HG02132.hp2 HG02257.hp1 HG02451.hp2 HG02717.hp2 HG02897.hp1 HG02970.hp2 HG02976.hp1 NA18964.hp2 NA19043.hp1 NA19063.hp1 NA20300.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0014 a0001c0001 a0002c0002 a0005c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0015 a0002c0002t0001 a0005c0014t0001	a0001c0001t0001g0155 a0001c0001t0001g0162 a0001c0001t0001g0186 others(18): Show a0001c0001t0001g0155 a0001c0001t0001g0162 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0227 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0002g0029 a0001c0001t0002g0052 a0001c0001t0002g0085 a0001c0001t0002g0088 a0001c0001t0003g0020 a0001c0001t0004g0151 a0001c0001t0004g0152 a0001c0001t0004g0153 a0001c0001t0004g0154 a0001c0001t0015g0041 a0002c0002t0001g0109 a0002c0002t0001g0122 a0005c0014t0001g0011	21	244	0.0861	-1	c.136 others(6): Show c.136-5delT		ELL	ENSG00000105656.13	transcript	ENST00000262809.9	protein_coding	1/11					chr19	TogoVar
ELMO1_chr7_36847906_37453864	37133122	T T	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02055.hp1 HG02559.hp1 HG02615.hp2 others(5): Show HG02055.hp1 HG02559.hp1 HG02615.hp2 HG02630.hp2 HG02886.hp1 HG02922.hp1 HG03471.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 others(4): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 a0001c0002t0001 a0001c0002t0006 a0001c0002t0007 a0001c0004t0002	a0001c0001t0002g0030 a0001c0001t0006g0004 a0001c0001t0008g0059 others(5): Show a0001c0001t0002g0030 a0001c0001t0006g0004 a0001c0001t0008g0059 a0001c0002t0001g0010 a0001c0002t0001g0070 a0001c0002t0006g0014 a0001c0002t0007g0064 a0001c0004t0002g0003	8	92	0.0870	0	c.119 others(6): Show c.1191+8A>T		ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	14/21					chr7	TogoVar
ELMO2_chr20_46361050_46411615	46373392	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0057 a0001c0001t0003g0057	1	312	0.0032	0	c.141 others(6): Show c.1416+7G>A		ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding	16/21					chr20	TogoVar
ELMO2_chr20_46361050_46411615	46380307	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0231 a0001c0001t0004g0231	1	312	0.0032	0	c.757 others(5): Show c.757-4A>G		ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding	10/21					chr20	TogoVar
ELMO3_chr16_67194131_67209004	67199755	A A	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00099.hp2 HG00099.hp2	a0012 a0012	a0012c0016 a0012c0016	a0012c0016t0001 a0012c0016t0001	a0012c0016t0001g0001 a0012c0016t0001g0001	1	328	0.0031	0	c.191 others(3): Show c.191A>G	p.Asn others(5): Show p.Asn64Ser	ELMO3	ENSG00000102890.16	transcript	ENST00000393997.8	protein_coding	3/20	387/2486	191/2163	64/720		chr16	TogoVar
ELMO3_chr16_67194131_67209004	67199759	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18956.hp2 NA19002.hp2 NA18956.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	2	328	0.0061	0	c.192 others(5): Show c.192+3G>A		ELMO3	ENSG00000102890.16	transcript	ENST00000393997.8	protein_coding	3/19					chr16	TogoVar
ELMO3_chr16_67194131_67209004	67201878	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00544.hp2 HG00544.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0033 a0002c0002t0001g0033	1	328	0.0031	0	c.105 others(6): Show c.1050+5G>A		ELMO3	ENSG00000102890.16	transcript	ENST00000393997.8	protein_coding	11/19					chr16	TogoVar
ELMOD1_chr11_107586147_107671779	107630702	A A	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02055.hp1 HG02055.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0089 a0003c0005t0002g0089	1	342	0.0029	0	c.166 others(3): Show c.166A>T	p.Thr others(5): Show p.Thr56Ser	ELMOD1	ENSG00000110675.13	transcript	ENST00000265840.12	protein_coding	4/12	514/2935	166/1005	56/334		chr11	TogoVar
ELMOD1_chr11_107586147_107671779	107635631	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0296 a0001c0001t0001g0296	1	342	0.0029	0	c.291 others(5): Show c.291-5C>T		ELMOD1	ENSG00000110675.13	transcript	ENST00000265840.12	protein_coding	5/11					chr11	TogoVar
ELMOD1_chr11_107586147_107671779	107647461	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0027 a0001c0002t0027	a0001c0002t0027g0268 a0001c0002t0027g0268	1	342	0.0029	0	c.421 others(5): Show c.421-7C>T		ELMOD1	ENSG00000110675.13	transcript	ENST00000265840.12	protein_coding	6/11					chr11	TogoVar
ELMOD1_chr11_107586147_107671779	107650912	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02559.hp2 HG03486.hp2 HG02559.hp2 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0012 a0001c0002t0009 a0001c0002t0012	a0001c0002t0009g0144 a0001c0002t0012g0092 a0001c0002t0009g0144 a0001c0002t0012g0092	2	342	0.0059	0	c.647 others(5): Show c.647+4T>C		ELMOD1	ENSG00000110675.13	transcript	ENST00000265840.12	protein_coding	9/11					chr11	TogoVar
ELMOD2_chr4_140519168_140558770	140537545	A A	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02040.hp1 NA18939.hp1 NA18997.hp1 HG02040.hp1 NA18939.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0144 a0001c0001t0004g0149 a0001c0001t0004g0173 a0001c0001t0004g0144 a0001c0001t0004g0149 a0001c0001t0004g0173	3	370	0.0081	0	c.399 others(5): Show c.399+4A>C		ELMOD2	ENSG00000179387.10	transcript	ENST00000323570.8	protein_coding	5/8					chr4	TogoVar
ELMOD3_chr2_85349769_85396748	85377477	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	386	0.0026	0	c.738 others(5): Show c.738+3G>A		ELMOD3	ENSG00000115459.18	transcript	ENST00000409013.8	protein_coding	11/13					chr2	TogoVar
ELN_chr7_74023173_74074907	74043176	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01358.hp2 HG01361.hp1 HG01358.hp2 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0210 a0001c0001t0001g0193 a0001c0001t0001g0210	2	366	0.0055	0	c.427 others(5): Show c.427+8C>T		ELN	ENSG00000049540.19	transcript	ENST00000252034.12	protein_coding	8/32					chr7	TogoVar
ELN_chr7_74023173_74074907	74051926	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA21309.hp1 NA21309.hp1	a0010 a0010	a0010c0023 a0010c0023	a0010c0023t0003 a0010c0023t0003	a0010c0023t0003g0118 a0010c0023t0003g0118	1	366	0.0027	0	c.892 others(3): Show c.892G>A	p.Val others(6): Show p.Val298Ile	ELN	ENSG00000049540.19	transcript	ENST00000252034.12	protein_coding	17/33	907/3397	892/2175	298/724		chr7	TogoVar
ELN_chr7_74023173_74074907	74051987	AGTGCCTC others(5): Show AGTGCCTCCCGGG	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0345 a0001c0001t0001g0345	1	366	0.0027	-12	c.949 others(24): Show c.949+8_949+19delCCTCCCGGGGTG		ELN	ENSG00000049540.19	transcript	ENST00000252034.12	protein_coding	17/32				INFO_REALIGN_3_PRIME	chr7	TogoVar
ELN_chr7_74023173_74074907	74053290	CCCAGGTG others(8): Show CCCAGGTGCTGCGGTT	C C	splice_donor_variant others(3): Show splice_donor_variant disruptive_inframe_deletion splice_region_variant intron_variant	HIGH	NA19012.hp1 NA19012.hp1	a0015 a0015	a0015c0014 a0015c0014	a0015c0014t0001 a0015c0014t0001	a0015c0014t0001g0060 a0015c0014t0001g0060	1	366	0.0027	-15	c.108 others(26): Show c.1085_1096+3delCTGCGGTTCCAGGTG	p.Ala others(13): Show p.Ala362_Pro365del	ELN	ENSG00000049540.19	transcript	ENST00000252034.12	protein_coding	18/33	1100/3397	1085/2175	362/724	INFO_REALIGN_3_PRIME	chr7	TogoVar
ELN_chr7_74023173_74074907	74066002	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01884.hp1 HG02280.hp2 HG02717.hp2 others(2): Show HG01884.hp1 HG02280.hp2 HG02717.hp2 HG02809.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0012 a0001c0001t0004g0131 a0001c0001t0004g0137 others(1): Show a0001c0001t0004g0012 a0001c0001t0004g0131 a0001c0001t0004g0137 a0001c0001t0004g0221	5	366	0.0137	0	c.208 others(6): Show c.2086+5G>C		ELN	ENSG00000049540.19	transcript	ENST00000252034.12	protein_coding	31/32					chr7	TogoVar
ELOB_chr16_2766414_2782280	2771415	G G	C C	splice_region_variant splice_region_variant	LOW	NA18940.hp2 NA18947.hp1 NA18965.hp2 others(5): Show NA18940.hp2 NA18947.hp1 NA18965.hp2 NA18970.hp2 NA18973.hp1 NA18974.hp2 NA19059.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0014 a0001c0001t0018 a0001c0001t0012 a0001c0001t0014 a0001c0001t0018	a0001c0001t0012g0037 a0001c0001t0012g0073 a0001c0001t0012g0076 others(2): Show a0001c0001t0012g0037 a0001c0001t0012g0073 a0001c0001t0012g0076 a0001c0001t0014g0025 a0001c0001t0018g0100	8	438	0.0183	0	c.57 others(4): Show c.575C>G		ELOB	ENSG00000103363.16	transcript	ENST00000409906.9	protein_coding	4/4					chr16	TogoVar
ELOVL1_chr1_43358401_43373011	43365556	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	384	0.0026	0	c.46+ others(4): Show c.46+8G>C		ELOVL1	ENSG00000066322.15	transcript	ENST00000372458.8	protein_coding	2/7					chr1	TogoVar
ELOVL1_chr1_43358401_43373011	43365557	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	384	0.0026	0	c.46+ others(4): Show c.46+7C>T		ELOVL1	ENSG00000066322.15	transcript	ENST00000372458.8	protein_coding	2/7					chr1	TogoVar
ELOVL2_chr6_10975759_11049305	10989699	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01891.hp2 HG02258.hp1 HG02280.hp1 others(5): Show HG01891.hp2 HG02258.hp1 HG02280.hp1 HG02486.hp2 HG02622.hp1 HG02965.hp1 HG02970.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0017 a0001c0001t0006 a0001c0001t0017	a0001c0001t0006g0003 a0001c0001t0006g0017 a0001c0001t0006g0275 others(1): Show a0001c0001t0006g0003 a0001c0001t0006g0017 a0001c0001t0006g0275 a0001c0001t0017g0276	8	380	0.0211	0	c.765 others(5): Show c.765+4C>T		ELOVL2	ENSG00000197977.4	transcript	ENST00000354666.4	protein_coding	7/7					chr6	TogoVar
ELOVL3_chr10_102221299_102234589	102228576	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	436	0.0023	0	c.385 others(5): Show c.385+8G>T		ELOVL3	ENSG00000119915.5	transcript	ENST00000370005.4	protein_coding	3/3					chr10	TogoVar
ELOVL4_chr6_79909814_79952553	79926385	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03579.hp1 NA19030.hp2 HG03579.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0208 a0001c0001t0010g0209 a0001c0001t0010g0208 a0001c0001t0010g0209	2	354	0.0057	0	c.101 others(5): Show c.101-4A>G		ELOVL4	ENSG00000118402.6	transcript	ENST00000369816.5	protein_coding	1/5					chr6	TogoVar
ELOVL7_chr5_60746791_60849269	60799177	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00408.hp1 HG00438.hp1 others(54): Show HG00099.hp1 HG00408.hp1 HG00438.hp1 HG00438.hp2 HG00639.hp1 HG00673.hp2 HG01069.hp1 HG01074.hp1 HG01167.hp2 HG01168.hp2 HG01192.hp1 HG01257.hp1 HG01346.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01975.hp1 HG02027.hp1 HG02135.hp2 HG02273.hp2 HG02735.hp2 HG02896.hp1 HG02897.hp1 HG03453.hp1 HG03491.hp2 HG03831.hp2 HG03942.hp1 HG04199.hp2 HG04204.hp1 HG06807.hp2 NA18950.hp2 NA18951.hp1 NA18959.hp1 NA18967.hp1 NA18968.hp2 NA18970.hp2 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18997.hp1 NA18999.hp2 NA19004.hp1 NA19054.hp1 NA19060.hp2 NA19063.hp2 NA19064.hp1 NA19074.hp2 NA19078.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19090.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0012 a0003c0004t0001	a0001c0001t0001g0003 a0001c0001t0001g0045 a0001c0001t0001g0048 others(53): Show a0001c0001t0001g0003 a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0052 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0198 a0001c0001t0001g0218 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0002g0049 a0001c0001t0002g0054 a0001c0001t0002g0099 a0001c0001t0002g0103 a0001c0001t0002g0113 a0001c0001t0007g0028 a0001c0001t0012g0243 a0001c0001t0012g0244 a0003c0004t0001g0085	57	258	0.2209	0	c.-35 others(5): Show c.-35+3A>G		ELOVL7	ENSG00000164181.14	transcript	ENST00000508821.6	protein_coding	2/8					chr5	TogoVar
ELP1_chr9_108862517_108939124	108878753	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0036 a0001c0036	a0001c0036t0003 a0001c0036t0003	a0001c0036t0003g0087 a0001c0036t0003g0087	1	416	0.0024	0	c.357 others(6): Show c.3573-3C>T		ELP1	ENSG00000070061.16	transcript	ENST00000374647.10	protein_coding	33/36					chr9	TogoVar
ELP1_chr9_108862517_108939124	108901680	T T	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02886.hp2 HG02886.hp2	a0027 a0027	a0027c0042 a0027c0042	a0027c0042t0013 a0027c0042t0013	a0027c0042t0013g0110 a0027c0042t0013g0110	1	416	0.0024	0	c.185 others(4): Show c.1856A>G	p.Glu others(6): Show p.Glu619Gly	ELP1	ENSG00000070061.16	transcript	ENST00000374647.10	protein_coding	17/37	2172/5913	1856/3999	619/1332		chr9	TogoVar
ELP1_chr9_108862517_108939124	108916300	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01928.hp2 HG01928.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0005 a0004c0007t0005	a0004c0007t0005g0270 a0004c0007t0005g0270	1	416	0.0024	0	c.865 others(5): Show c.865-3T>C		ELP1	ENSG00000070061.16	transcript	ENST00000374647.10	protein_coding	9/36					chr9	TogoVar
ELP2_chr18_36124899_36185557	36133324	T T	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00280.hp2 HG00621.hp1 others(100): Show HG00099.hp1 HG00280.hp2 HG00621.hp1 HG00642.hp1 HG00733.hp2 HG00738.hp2 HG01069.hp1 HG01070.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01168.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp2 HG01257.hp2 HG01261.hp1 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01943.hp2 HG01952.hp1 HG02071.hp1 HG02074.hp2 HG02109.hp1 HG02132.hp1 HG02258.hp2 HG02273.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02572.hp2 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02723.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp2 HG02976.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03471.hp2 HG03490.hp1 HG03491.hp1 HG03579.hp1 HG03669.hp1 HG03710.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG06807.hp1 NA18942.hp2 NA18943.hp1 NA18949.hp2 NA18950.hp1 NA18952.hp1 NA18955.hp1 NA18957.hp1 NA18962.hp1 NA18964.hp2 NA18965.hp2 NA18970.hp1 NA18979.hp1 NA18980.hp2 NA18982.hp2 NA18985.hp2 NA18987.hp2 NA18988.hp2 NA18991.hp2 NA18994.hp2 NA18995.hp2 NA18999.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19055.hp2 NA19056.hp1 NA19058.hp1 NA19067.hp1 NA19068.hp1 NA19076.hp2 NA19077.hp1 NA19080.hp2 NA19082.hp2 NA19086.hp1 NA19089.hp1 NA19091.hp2 NA19240.hp1 NA21309.hp1	a0002 a0004 a0006 others(2): Show a0002 a0004 a0006 a0009 a0010	a0002c0002 a0004c0004 a0006c0005 others(2): Show a0002c0002 a0004c0004 a0006c0005 a0009c0016 a0010c0017	a0002c0002t0003 a0002c0002t0007 a0002c0002t0008 others(29): Show a0002c0002t0003 a0002c0002t0007 a0002c0002t0008 a0002c0002t0020 a0002c0002t0023 a0002c0002t0024 a0002c0002t0025 a0002c0002t0075 a0002c0002t0076 a0002c0002t0077 a0002c0002t0078 a0002c0002t0079 a0002c0002t0080 a0002c0002t0081 a0002c0002t0082 a0002c0002t0083 a0002c0002t0084 a0002c0002t0085 a0002c0002t0086 a0002c0002t0087 a0002c0002t0088 a0002c0002t0089 a0004c0004t0009 a0004c0004t0016 a0004c0004t0027 a0004c0004t0041 a0004c0004t0042 a0004c0004t0043 a0006c0005t0009 a0006c0005t0027 a0009c0016t0052 a0010c0017t0003	a0002c0002t0003g0001 a0002c0002t0003g0013 a0002c0002t0003g0015 others(99): Show a0002c0002t0003g0001 a0002c0002t0003g0013 a0002c0002t0003g0015 a0002c0002t0003g0284 a0002c0002t0003g0285 a0002c0002t0003g0286 a0002c0002t0003g0288 a0002c0002t0003g0290 a0002c0002t0003g0291 a0002c0002t0003g0292 a0002c0002t0003g0293 a0002c0002t0003g0298 a0002c0002t0003g0299 a0002c0002t0003g0301 a0002c0002t0003g0304 a0002c0002t0003g0311 a0002c0002t0003g0312 a0002c0002t0003g0313 a0002c0002t0003g0314 a0002c0002t0003g0318 a0002c0002t0003g0321 a0002c0002t0003g0325 a0002c0002t0003g0326 a0002c0002t0003g0327 a0002c0002t0003g0331 a0002c0002t0003g0332 a0002c0002t0003g0333 a0002c0002t0003g0338 a0002c0002t0003g0346 a0002c0002t0003g0348 a0002c0002t0003g0350 a0002c0002t0003g0352 a0002c0002t0003g0359 a0002c0002t0007g0014 a0002c0002t0007g0281 a0002c0002t0007g0283 a0002c0002t0007g0303 a0002c0002t0007g0320 a0002c0002t0007g0330 a0002c0002t0007g0334 a0002c0002t0007g0339 a0002c0002t0007g0340 a0002c0002t0007g0341 a0002c0002t0007g0343 a0002c0002t0007g0344 a0002c0002t0008g0013 a0002c0002t0008g0016 a0002c0002t0008g0294 a0002c0002t0008g0305 a0002c0002t0008g0306 a0002c0002t0008g0307 a0002c0002t0008g0308 a0002c0002t0008g0309 a0002c0002t0008g0310 a0002c0002t0008g0345 a0002c0002t0020g0001 a0002c0002t0020g0295 a0002c0002t0020g0319 a0002c0002t0020g0342 a0002c0002t0023g0289 a0002c0002t0023g0296 a0002c0002t0023g0300 a0002c0002t0024g0297 a0002c0002t0024g0324 a0002c0002t0024g0329 a0002c0002t0025g0014 a0002c0002t0025g0282 a0002c0002t0025g0349 a0002c0002t0075g0001 a0002c0002t0076g0336 a0002c0002t0077g0315 a0002c0002t0078g0302 a0002c0002t0079g0316 a0002c0002t0080g0317 a0002c0002t0081g0287 a0002c0002t0082g0323 a0002c0002t0083g0016 a0002c0002t0084g0322 a0002c0002t0085g0347 a0002c0002t0086g0328 a0002c0002t0087g0335 a0002c0002t0088g0015 a0002c0002t0089g0351 a0004c0004t0009g0265 a0004c0004t0009g0268 a0004c0004t0009g0274 a0004c0004t0009g0275 a0004c0004t0009g0280 a0004c0004t0016g0266 a0004c0004t0016g0271 a0004c0004t0016g0272 a0004c0004t0016g0276 a0004c0004t0027g0269 a0004c0004t0041g0279 a0004c0004t0042g0264 a0004c0004t0043g0277 a0006c0005t0009g0267 a0006c0005t0009g0270 a0006c0005t0009g0273 a0006c0005t0027g0278 a0009c0016t0052g0051 a0010c0017t0003g0337	103	378	0.2725	0	c.217 others(5): Show c.217+8T>A		ELP2	ENSG00000134759.14	transcript	ENST00000358232.11	protein_coding	2/21					chr18	TogoVar
ELP2_chr18_36124899_36185557	36146244	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0148 a0001c0001t0002g0148	1	378	0.0027	0	c.994 others(5): Show c.994-6G>T		ELP2	ENSG00000134759.14	transcript	ENST00000358232.11	protein_coding	10/21					chr18	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)