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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
EBF2_chr8_25836725_26050413	26005547	T T	TATATA TATATA	intron_variant intron_variant	MODIFIER	HG02165.hp1 homoSapiens_chm13v2.hp1 HG02165.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0120 a0001c0002t0001g0083 a0001c0001t0002g0120 a0001c0002t0001g0083	2	220	0.0091	5	c.551 others(24): Show c.551+27533_551+27537dupTATAT	EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding	6/15			chr8	TogoVar
EBF3_chr10_129830233_129969274	129831736	C C	CTTTTT CTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG01175.hp1 HG01175.hp2 others(20): Show HG01081.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01361.hp2 HG02055.hp2 HG02071.hp1 HG02109.hp2 HG02738.hp1 HG02886.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03453.hp1 HG03471.hp1 HG03688.hp1 HG03942.hp1 NA18522.hp1 NA18522.hp2 NA18947.hp1 NA19006.hp2 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0001t0016 a0001c0001t0023 a0001c0001t0025 a0001c0001t0029 a0001c0001t0035 a0001c0002t0004 a0001c0002t0008	a0001c0001t0001g0008 a0001c0001t0001g0208 a0001c0001t0001g0257 others(20): Show a0001c0001t0001g0008 a0001c0001t0001g0208 a0001c0001t0001g0257 a0001c0001t0002g0119 a0001c0001t0002g0124 a0001c0001t0002g0259 a0001c0001t0003g0051 a0001c0001t0003g0187 a0001c0001t0003g0210 a0001c0001t0004g0098 a0001c0001t0004g0193 a0001c0001t0004g0273 a0001c0001t0004g0274 a0001c0001t0007g0131 a0001c0001t0007g0177 a0001c0001t0009g0060 a0001c0001t0016g0102 a0001c0001t0023g0182 a0001c0001t0025g0338 a0001c0001t0029g0076 a0001c0001t0035g0282 a0001c0002t0004g0287 a0001c0002t0008g0306	23	338	0.0681	5	c.62 others(16): Show c.6206_*6207insAAAAA	EBF3	ENSG00000108001.16	transcript	ENST00000440978.2	protein_coding		3496		chr10	TogoVar
EBF3_chr10_129830233_129969274	129878661	C C	CAAAAA CAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00558.hp1 HG00741.hp1 others(33): Show HG00438.hp2 HG00558.hp1 HG00741.hp1 HG01099.hp2 HG01169.hp1 HG01255.hp1 HG01952.hp2 HG01993.hp1 HG01993.hp2 HG02109.hp1 HG02109.hp2 HG02280.hp2 HG02735.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp2 HG03139.hp1 HG03195.hp2 HG03225.hp2 HG03239.hp2 HG03579.hp2 HG03654.hp2 HG03942.hp1 HG04228.hp2 NA18946.hp1 NA18965.hp2 NA18969.hp1 NA18983.hp2 NA18998.hp1 NA19006.hp1 NA19006.hp2 NA19054.hp1 NA19086.hp1 NA19240.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0019 a0001c0001t0027 a0001c0001t0032 a0001c0001t0035 a0001c0002t0002 a0001c0002t0004 a0001c0002t0006	a0001c0001t0001g0008 a0001c0001t0001g0081 a0001c0001t0001g0082 others(33): Show a0001c0001t0001g0008 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0108 a0001c0001t0001g0132 a0001c0001t0001g0222 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0251 a0001c0001t0001g0280 a0001c0001t0002g0018 a0001c0001t0002g0029 a0001c0001t0002g0068 a0001c0001t0002g0079 a0001c0001t0002g0179 a0001c0001t0002g0255 a0001c0001t0002g0259 a0001c0001t0003g0058 a0001c0001t0003g0084 a0001c0001t0003g0144 a0001c0001t0004g0024 a0001c0001t0004g0184 a0001c0001t0004g0211 a0001c0001t0006g0031 a0001c0001t0007g0192 a0001c0001t0007g0202 a0001c0001t0009g0060 a0001c0001t0011g0189 a0001c0001t0019g0111 a0001c0001t0027g0001 a0001c0001t0032g0213 a0001c0001t0035g0282 a0001c0002t0002g0297 a0001c0002t0002g0298 a0001c0002t0004g0287 a0001c0002t0006g0316	36	338	0.1065	5	c.555 others(20): Show c.555-817_555-813dupTTTTT	EBF3	ENSG00000108001.16	transcript	ENST00000440978.2	protein_coding	6/16			chr10	TogoVar
EBF3_chr10_129830233_129969274	129878823	C C	CAAAAA CAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01261.hp1 HG01433.hp2 others(21): Show HG01109.hp2 HG01261.hp1 HG01433.hp2 HG01515.hp2 HG02135.hp2 HG02145.hp1 HG02723.hp1 HG02922.hp1 HG02970.hp2 HG02976.hp1 HG03491.hp1 HG03654.hp2 NA18906.hp1 NA18940.hp2 NA18965.hp1 NA18973.hp1 NA18975.hp2 NA18985.hp2 NA19009.hp1 NA19067.hp1 NA19067.hp2 NA19072.hp1 NA19072.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0020 a0001c0001t0041 a0001c0001t0048 a0001c0001t0054 a0001c0002t0003 a0001c0005t0003	a0001c0001t0001g0133 a0001c0001t0001g0281 a0001c0001t0002g0096 others(21): Show a0001c0001t0001g0133 a0001c0001t0001g0281 a0001c0001t0002g0096 a0001c0001t0002g0245 a0001c0001t0003g0016 a0001c0001t0003g0052 a0001c0001t0003g0088 a0001c0001t0003g0097 a0001c0001t0003g0144 a0001c0001t0003g0149 a0001c0001t0004g0232 a0001c0001t0005g0041 a0001c0001t0006g0034 a0001c0001t0008g0010 a0001c0001t0009g0030 a0001c0001t0009g0138 a0001c0001t0009g0181 a0001c0001t0011g0189 a0001c0001t0020g0263 a0001c0001t0041g0075 a0001c0001t0048g0321 a0001c0001t0054g0335 a0001c0002t0003g0288 a0001c0005t0003g0317	24	338	0.0710	5	c.555 others(20): Show c.555-979_555-975dupTTTTT	EBF3	ENSG00000108001.16	transcript	ENST00000440978.2	protein_coding	6/16			chr10	TogoVar
EBF3_chr10_129830233_129969274	129878839	A A	AAAAAG AAAAAG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00609.hp1 HG01928.hp2 others(13): Show HG00280.hp1 HG00609.hp1 HG01928.hp2 HG02165.hp1 HG02602.hp2 HG02738.hp2 HG03688.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp2 HG03927.hp1 HG04115.hp2 HG04204.hp2 NA18522.hp2 NA18947.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0012 a0001c0001t0028 a0001c0001t0031 a0001c0001t0038 a0001c0002t0002 a0001c0002t0004	a0001c0001t0001g0083 a0001c0001t0001g0126 a0001c0001t0001g0145 others(13): Show a0001c0001t0001g0083 a0001c0001t0001g0126 a0001c0001t0001g0145 a0001c0001t0001g0162 a0001c0001t0001g0208 a0001c0001t0002g0027 a0001c0001t0002g0124 a0001c0001t0003g0051 a0001c0001t0005g0120 a0001c0001t0008g0017 a0001c0001t0012g0117 a0001c0001t0028g0022 a0001c0001t0031g0128 a0001c0001t0038g0225 a0001c0002t0002g0285 a0001c0002t0004g0300	16	338	0.0473	5	c.555 others(20): Show c.555-991_555-990insCTTTT	EBF3	ENSG00000108001.16	transcript	ENST00000440978.2	protein_coding	6/16			chr10	TogoVar
EBF3_chr10_129830233_129969274	129887050	T T	TGGGTG TGGGTG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02895.hp1 NA19240.hp2 HG02109.hp2 HG02895.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0019 a0001c0001t0023 a0001c0001t0001 a0001c0001t0019 a0001c0001t0023	a0001c0001t0001g0008 a0001c0001t0019g0111 a0001c0001t0023g0271 a0001c0001t0001g0008 a0001c0001t0019g0111 a0001c0001t0023g0271	3	338	0.0089	5	c.555 others(22): Show c.555-9202_555-9201insCACCC	EBF3	ENSG00000108001.16	transcript	ENST00000440978.2	protein_coding	6/16			chr10	TogoVar
EBF3_chr10_129830233_129969274	129917651	C C	CAAAAA CAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00438.hp1 others(51): Show HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00544.hp1 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG01255.hp1 HG01257.hp1 HG01361.hp2 HG01496.hp1 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01978.hp1 HG01993.hp1 HG02040.hp2 HG02071.hp1 HG02132.hp1 HG02135.hp2 HG02148.hp2 HG02155.hp2 HG02273.hp1 HG02273.hp2 HG02735.hp2 HG03239.hp1 HG03491.hp2 HG03654.hp2 HG04115.hp1 HG04115.hp2 NA18612.hp1 NA18940.hp2 NA18946.hp2 NA18947.hp2 NA18951.hp1 NA18954.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18980.hp2 NA18983.hp1 NA19054.hp2 NA19074.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0013 a0001c0001t0015 a0001c0001t0021 a0001c0001t0032 a0001c0001t0034 a0001c0001t0037 a0001c0001t0038 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0008 a0001c0002t0043	a0001c0001t0001g0023 a0001c0001t0001g0062 a0001c0001t0001g0064 others(51): Show a0001c0001t0001g0023 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0141 a0001c0001t0001g0228 a0001c0001t0002g0043 a0001c0001t0002g0066 a0001c0001t0002g0068 a0001c0001t0002g0123 a0001c0001t0002g0180 a0001c0001t0002g0206 a0001c0001t0002g0214 a0001c0001t0002g0217 a0001c0001t0002g0226 a0001c0001t0003g0052 a0001c0001t0003g0084 a0001c0001t0003g0097 a0001c0001t0003g0130 a0001c0001t0003g0144 a0001c0001t0003g0187 a0001c0001t0003g0220 a0001c0001t0003g0240 a0001c0001t0004g0045 a0001c0001t0004g0118 a0001c0001t0004g0129 a0001c0001t0004g0172 a0001c0001t0004g0184 a0001c0001t0004g0219 a0001c0001t0004g0250 a0001c0001t0005g0028 a0001c0001t0006g0031 a0001c0001t0006g0167 a0001c0001t0008g0065 a0001c0001t0008g0155 a0001c0001t0008g0188 a0001c0001t0008g0212 a0001c0001t0008g0244 a0001c0001t0009g0138 a0001c0001t0013g0109 a0001c0001t0015g0053 a0001c0001t0015g0236 a0001c0001t0021g0152 a0001c0001t0032g0213 a0001c0001t0034g0178 a0001c0001t0037g0231 a0001c0001t0038g0225 a0001c0002t0001g0286 a0001c0002t0002g0285 a0001c0002t0002g0294 a0001c0002t0002g0299 a0001c0002t0003g0288 a0001c0002t0005g0302 a0001c0002t0008g0306 a0001c0002t0043g0291	54	338	0.1598	5	c.554 others(24): Show c.554+39602_554+39606dupTTTTT	EBF3	ENSG00000108001.16	transcript	ENST00000440978.2	protein_coding	6/16			chr10	TogoVar
EBF4_chr20_2687780_2765108	2723768	A A	ACCAAT ACCAAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01884.hp2 HG01891.hp2 others(16): Show HG01243.hp1 HG01884.hp2 HG01891.hp2 HG02055.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02615.hp2 HG02622.hp2 HG02723.hp1 HG02723.hp2 HG02818.hp1 HG03098.hp1 HG03195.hp2 HG03209.hp1 NA18522.hp1 NA19043.hp1 NA20129.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0003t0001 a0001c0004t0001 a0001c0004t0002	a0001c0001t0001g0256 a0001c0001t0003g0170 a0001c0001t0003g0182 others(16): Show a0001c0001t0001g0256 a0001c0001t0003g0170 a0001c0001t0003g0182 a0001c0001t0003g0219 a0001c0002t0001g0157 a0001c0002t0001g0162 a0001c0002t0001g0255 a0001c0002t0001g0268 a0001c0002t0001g0271 a0001c0002t0002g0153 a0001c0002t0003g0171 a0001c0002t0003g0197 a0001c0002t0003g0222 a0001c0002t0003g0234 a0001c0003t0001g0240 a0001c0003t0001g0276 a0001c0004t0001g0257 a0001c0004t0001g0258 a0001c0004t0002g0154	19	388	0.0490	5	c.557 others(24): Show c.557+14126_557+14127insCCAAT	EBF4	ENSG00000088881.22	transcript	ENST00000609451.6	protein_coding	6/16			chr20	TogoVar
EBI3_chr19_4224523_4242528	4231770	C C	CAAAAA CAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02572.hp2 HG02723.hp2 others(3): Show HG02559.hp1 HG02572.hp2 HG02723.hp2 HG03209.hp1 HG03486.hp2 HG06807.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0022 a0002c0002t0001g0043 a0002c0002t0002g0165 a0002c0002t0001g0022 a0002c0002t0001g0043 a0002c0002t0002g0165	6	438	0.0137	5	c.200 others(20): Show c.200+461_200+465dupAAAAA	EBI3	ENSG00000105246.6	transcript	ENST00000221847.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
EBI3_chr19_4224523_4242528	4236518	C C	CAAAAA CAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00323.hp1 others(68): Show HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00639.hp2 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01099.hp2 HG01167.hp2 HG01192.hp1 HG01255.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01517.hp1 HG01934.hp1 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02015.hp2 HG02109.hp2 HG02129.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp2 HG02602.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG03017.hp2 HG03098.hp2 HG03490.hp1 HG03540.hp1 HG03540.hp2 HG03710.hp1 HG03834.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18946.hp1 NA18959.hp2 NA18963.hp2 NA18969.hp1 NA18973.hp2 NA18983.hp2 NA18984.hp1 NA18990.hp1 NA18992.hp2 NA18995.hp1 NA18997.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp2 NA19011.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp2 NA19056.hp2 NA19064.hp2 NA19066.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp2 NA19240.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0002c0004	a0001c0001t0001 a0001c0003t0002 a0002c0002t0002 others(2): Show a0001c0001t0001 a0001c0003t0002 a0002c0002t0002 a0002c0002t0006 a0002c0004t0002	a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0150 others(35): Show a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0150 a0001c0001t0001g0178 a0001c0001t0001g0181 a0001c0003t0002g0188 a0002c0002t0002g0004 a0002c0002t0002g0008 a0002c0002t0002g0010 a0002c0002t0002g0018 a0002c0002t0002g0020 a0002c0002t0002g0039 a0002c0002t0002g0041 a0002c0002t0002g0042 a0002c0002t0002g0050 a0002c0002t0002g0056 a0002c0002t0002g0058 a0002c0002t0002g0070 a0002c0002t0002g0095 a0002c0002t0002g0107 a0002c0002t0002g0126 a0002c0002t0002g0127 a0002c0002t0002g0138 a0002c0002t0002g0142 a0002c0002t0002g0157 a0002c0002t0002g0158 a0002c0002t0002g0163 a0002c0002t0002g0203 a0002c0002t0002g0222 a0002c0002t0002g0226 a0002c0002t0002g0227 a0002c0002t0002g0229 a0002c0002t0002g0232 a0002c0002t0002g0233 a0002c0002t0002g0234 a0002c0002t0006g0159 a0002c0004t0002g0004 a0002c0004t0002g0060	71	438	0.1621	5	c.538 others(20): Show c.538-397_538-393dupAAAAA	EBI3	ENSG00000105246.6	transcript	ENST00000221847.6	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
EBLN1_chr10_22203475_22223015	22220529	C C	CAAAGA CAAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG01192.hp1 HG01243.hp1 others(21): Show HG00642.hp1 HG01192.hp1 HG01243.hp1 HG01884.hp1 HG01884.hp2 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02630.hp1 HG02647.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02970.hp1 HG02976.hp2 HG03098.hp1 HG03195.hp1 HG03471.hp1 NA18522.hp1 NA18906.hp1 NA19043.hp1 NA19240.hp2	a0003 a0004 a0014 a0003 a0004 a0014	a0003c0003 a0004c0004 a0014c0016 a0003c0003 a0004c0004 a0014c0016	a0003c0003t0004 a0004c0004t0003 a0014c0016t0012 a0003c0003t0004 a0004c0004t0003 a0014c0016t0012	a0003c0003t0004g0016 a0003c0003t0004g0017 a0003c0003t0004g0030 others(6): Show a0003c0003t0004g0016 a0003c0003t0004g0017 a0003c0003t0004g0030 a0003c0003t0004g0069 a0004c0004t0003g0005 a0004c0004t0003g0010 a0004c0004t0003g0015 a0004c0004t0003g0067 a0014c0016t0012g0068	24	432	0.0556	5	c.-27 others(16): Show c.-2783_-2782insTCTTT	EBLN1	ENSG00000223601.3	transcript	ENST00000422359.3	protein_coding		2515		chr10	TogoVar
EBLN2_chr3_73056659_73068337	73063338	A A	AAAAAG AAAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG02109.hp2 NA18944.hp2 others(4): Show HG00738.hp2 HG02109.hp2 NA18944.hp2 NA18952.hp1 NA18968.hp2 NA18985.hp2 NA19009.hp1	a0002 a0003 a0005 a0002 a0003 a0005	a0002c0002 a0003c0003 a0005c0006 a0002c0002 a0003c0003 a0005c0006	a0002c0002t0002 a0002c0002t0003 a0003c0003t0005 others(1): Show a0002c0002t0002 a0002c0002t0003 a0003c0003t0005 a0005c0006t0002	a0002c0002t0002g0000 a0002c0002t0003g0000 a0003c0003t0005g0000 others(1): Show a0002c0002t0002g0000 a0002c0002t0003g0000 a0003c0003t0005g0000 a0005c0006t0002g0000	7	428	0.0164	5	c.43 others(14): Show c.438_*439insAAAAG	EBLN2	ENSG00000255423.1	transcript	ENST00000533473.1	protein_coding		2		chr3	TogoVar
EBNA1BP2_chr1_43159184_43177290	43175492	T T	TTTTTA TTTTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(45): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00733.hp2 HG00735.hp1 HG00741.hp2 HG01099.hp2 HG01106.hp1 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 HG03704.hp2 HG03710.hp1 HG03834.hp1 HG03942.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp1 NA18906.hp2 NA20129.hp1 NA20805.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0002 a0002c0002t0004 a0001c0001t0002 a0002c0002t0002 a0002c0002t0004	a0001c0001t0002g0053 a0002c0002t0002g0004 a0002c0002t0002g0009 others(5): Show a0001c0001t0002g0053 a0002c0002t0002g0004 a0002c0002t0002g0009 a0002c0002t0002g0017 a0002c0002t0002g0029 a0002c0002t0002g0051 a0002c0002t0002g0052 a0002c0002t0004g0013	48	392	0.1225	5	c.-33 others(16): Show c.-3379_-3375dupTAAAA	EBNA1BP2	ENSG00000117395.13	transcript	ENST00000236051.3	protein_coding		3203		chr1	TogoVar
EBPL_chr13_49655674_49696486	49680822	A A	AAAAAC AAAAAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00323.hp2 others(237): Show HG00140.hp1 HG00140.hp2 HG00323.hp2 HG00408.hp2 HG00423.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02300.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02622.hp2 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG06807.hp2 NA18747.hp1 NA18906.hp2 NA18939.hp2 NA18942.hp1 NA18943.hp1 NA18944.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18955.hp2 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18972.hp1 NA18974.hp1 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18985.hp1 NA18985.hp2 NA18988.hp1 NA18989.hp2 NA18991.hp1 NA18993.hp1 NA18993.hp2 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19001.hp2 NA19003.hp1 NA19003.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19055.hp1 NA19055.hp2 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19063.hp2 NA19064.hp1 NA19065.hp2 NA19066.hp2 NA19067.hp2 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19079.hp1 NA19080.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0001 a0001c0002t0001 a0002c0004t0001 a0001c0001t0001 a0001c0002t0001 a0002c0004t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(171): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0248 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0066 a0002c0004t0001g0059	240	410	0.5854	5	c.171 others(24): Show c.171+10427_171+10431dupGTTTT	EBPL	ENSG00000123179.14	transcript	ENST00000242827.11	protein_coding	1/3			chr13	TogoVar
EBP_chrX_48516808_48533716	48521866	G G	GCCCCC GCCCCC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0077 a0001c0001t0006g0077	1	311	0.0032	5	c.-11 others(14): Show c.-112_-111insCCCCC	EBP	ENSG00000147155.11	transcript	ENST00000495186.6	protein_coding	1/5	1902	INFO_REALIGN_3_PRIME	chrX	TogoVar
EBP_chrX_48516808_48533716	48522003	G G	GCCCCC GCCCCC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG06807.hp1 HG02280.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	2	311	0.0064	5	c.-74 others(20): Show c.-74+100_-74+104dupCCCCC	EBP	ENSG00000147155.11	transcript	ENST00000495186.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
EBP_chrX_48516808_48533716	48523711	C C	CTTTTT CTTTTT	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0007 a0001c0001t0011g0007	1	311	0.0032	5	c.-47 others(12): Show c.-47_-43dupTTTTT	EBP	ENSG00000147155.11	transcript	ENST00000495186.6	protein_coding	2/5	42	INFO_REALIGN_3_PRIME	chrX	TogoVar
ECD_chr10_73128668_73173008	73138956	T T	TTTGAG TTTGAG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00438.hp1 others(103): Show HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00621.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG01074.hp1 HG01081.hp2 HG01243.hp2 HG01256.hp2 HG01261.hp2 HG01346.hp2 HG01884.hp2 HG01891.hp2 HG01978.hp1 HG02040.hp2 HG02055.hp1 HG02071.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02145.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02280.hp2 HG02451.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02602.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02809.hp1 HG02818.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03490.hp2 HG03491.hp2 HG03516.hp1 HG03579.hp2 HG03688.hp2 HG03704.hp1 HG03834.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18747.hp2 NA18906.hp2 NA18940.hp2 NA18941.hp2 NA18942.hp2 NA18949.hp2 NA18952.hp2 NA18953.hp2 NA18963.hp2 NA18966.hp1 NA18968.hp1 NA18970.hp1 NA18971.hp1 NA18978.hp1 NA18980.hp1 NA18980.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18992.hp1 NA18993.hp2 NA18998.hp1 NA18999.hp2 NA19002.hp2 NA19005.hp2 NA19006.hp2 NA19009.hp1 NA19043.hp2 NA19054.hp1 NA19055.hp2 NA19057.hp1 NA19060.hp1 NA19065.hp1 NA19066.hp2 NA19077.hp1 NA19078.hp1 NA19082.hp2 NA19083.hp2 NA19085.hp1 NA20129.hp1 NA20129.hp2	a0002 a0003 a0005 others(2): Show a0002 a0003 a0005 a0006 a0007	a0002c0002 a0002c0003 a0002c0008 others(5): Show a0002c0002 a0002c0003 a0002c0008 a0003c0004 a0003c0005 a0005c0015 a0006c0010 a0007c0009	a0002c0002t0002 a0002c0002t0003 a0002c0003t0002 others(7): Show a0002c0002t0002 a0002c0002t0003 a0002c0003t0002 a0002c0003t0004 a0002c0008t0002 a0003c0004t0003 a0003c0005t0003 a0005c0015t0002 a0006c0010t0003 a0007c0009t0002	a0002c0002t0002g0009 a0002c0002t0002g0013 a0002c0002t0002g0015 others(88): Show a0002c0002t0002g0009 a0002c0002t0002g0013 a0002c0002t0002g0015 a0002c0002t0002g0017 a0002c0002t0002g0019 a0002c0002t0002g0038 a0002c0002t0002g0039 a0002c0002t0002g0050 a0002c0002t0002g0051 a0002c0002t0002g0052 a0002c0002t0002g0054 a0002c0002t0002g0055 a0002c0002t0002g0056 a0002c0002t0002g0057 a0002c0002t0002g0062 a0002c0002t0002g0063 a0002c0002t0002g0068 a0002c0002t0002g0071 a0002c0002t0002g0072 a0002c0002t0002g0075 a0002c0002t0002g0077 a0002c0002t0002g0078 a0002c0002t0002g0080 a0002c0002t0002g0081 a0002c0002t0002g0082 a0002c0002t0002g0083 a0002c0002t0002g0085 a0002c0002t0002g0086 a0002c0002t0002g0088 a0002c0002t0002g0108 a0002c0002t0002g0110 a0002c0002t0002g0111 a0002c0002t0003g0014 a0002c0002t0003g0040 a0002c0002t0003g0041 a0002c0002t0003g0042 a0002c0002t0003g0043 a0002c0002t0003g0044 a0002c0002t0003g0045 a0002c0002t0003g0046 a0002c0002t0003g0047 a0002c0002t0003g0048 a0002c0002t0003g0049 a0002c0002t0003g0093 a0002c0003t0002g0008 a0002c0003t0002g0016 a0002c0003t0002g0018 a0002c0003t0002g0053 a0002c0003t0002g0058 a0002c0003t0002g0059 a0002c0003t0002g0060 a0002c0003t0002g0061 a0002c0003t0002g0064 a0002c0003t0002g0065 a0002c0003t0002g0066 a0002c0003t0002g0067 a0002c0003t0002g0073 a0002c0003t0002g0074 a0002c0003t0002g0076 a0002c0003t0002g0079 a0002c0003t0002g0084 a0002c0003t0002g0087 a0002c0003t0002g0090 a0002c0003t0002g0091 a0002c0003t0004g0012 a0002c0003t0004g0034 a0002c0003t0004g0035 a0002c0003t0004g0036 a0002c0003t0004g0037 a0002c0008t0002g0070 a0003c0004t0003g0022 a0003c0004t0003g0095 a0003c0004t0003g0096 a0003c0004t0003g0099 a0003c0004t0003g0100 a0003c0004t0003g0101 a0003c0004t0003g0102 a0003c0004t0003g0103 a0003c0004t0003g0104 a0003c0004t0003g0105 a0003c0004t0003g0106 a0003c0004t0003g0107 a0003c0004t0003g0109 a0003c0005t0003g0020 a0003c0005t0003g0021 a0003c0005t0003g0094 a0003c0005t0003g0097 a0003c0005t0003g0098 a0005c0015t0002g0089 a0006c0010t0003g0092 a0007c0009t0002g0069	106	272	0.3897	5	c.142 others(22): Show c.1421+352_1421+353insCTCAA	ECD	ENSG00000122882.11	transcript	ENST00000372979.9	protein_coding	11/13			chr10	TogoVar
ECD_chr10_73128668_73173008	73170524	A A	AAAAAT AAAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00438.hp1 others(103): Show HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00621.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG01074.hp1 HG01081.hp2 HG01243.hp2 HG01256.hp2 HG01261.hp2 HG01346.hp2 HG01884.hp2 HG01891.hp2 HG01978.hp1 HG02040.hp2 HG02055.hp1 HG02071.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02145.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02280.hp2 HG02451.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02602.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02809.hp1 HG02818.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03490.hp2 HG03491.hp2 HG03516.hp1 HG03579.hp2 HG03688.hp2 HG03704.hp1 HG03834.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18747.hp2 NA18906.hp2 NA18940.hp2 NA18941.hp2 NA18942.hp2 NA18949.hp2 NA18952.hp2 NA18953.hp2 NA18963.hp2 NA18966.hp1 NA18968.hp1 NA18970.hp1 NA18971.hp1 NA18978.hp1 NA18980.hp1 NA18980.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18992.hp1 NA18993.hp2 NA18998.hp1 NA18999.hp2 NA19002.hp2 NA19005.hp2 NA19006.hp2 NA19009.hp1 NA19043.hp2 NA19054.hp1 NA19055.hp2 NA19057.hp1 NA19060.hp1 NA19065.hp1 NA19066.hp2 NA19077.hp1 NA19078.hp1 NA19082.hp2 NA19083.hp2 NA19085.hp1 NA20129.hp1 NA20129.hp2	a0002 a0003 a0005 others(2): Show a0002 a0003 a0005 a0006 a0007	a0002c0002 a0002c0003 a0002c0008 others(5): Show a0002c0002 a0002c0003 a0002c0008 a0003c0004 a0003c0005 a0005c0015 a0006c0010 a0007c0009	a0002c0002t0002 a0002c0002t0003 a0002c0003t0002 others(7): Show a0002c0002t0002 a0002c0002t0003 a0002c0003t0002 a0002c0003t0004 a0002c0008t0002 a0003c0004t0003 a0003c0005t0003 a0005c0015t0002 a0006c0010t0003 a0007c0009t0002	a0002c0002t0002g0009 a0002c0002t0002g0013 a0002c0002t0002g0015 others(88): Show a0002c0002t0002g0009 a0002c0002t0002g0013 a0002c0002t0002g0015 a0002c0002t0002g0017 a0002c0002t0002g0019 a0002c0002t0002g0038 a0002c0002t0002g0039 a0002c0002t0002g0050 a0002c0002t0002g0051 a0002c0002t0002g0052 a0002c0002t0002g0054 a0002c0002t0002g0055 a0002c0002t0002g0056 a0002c0002t0002g0057 a0002c0002t0002g0062 a0002c0002t0002g0063 a0002c0002t0002g0068 a0002c0002t0002g0071 a0002c0002t0002g0072 a0002c0002t0002g0075 a0002c0002t0002g0077 a0002c0002t0002g0078 a0002c0002t0002g0080 a0002c0002t0002g0081 a0002c0002t0002g0082 a0002c0002t0002g0083 a0002c0002t0002g0085 a0002c0002t0002g0086 a0002c0002t0002g0088 a0002c0002t0002g0108 a0002c0002t0002g0110 a0002c0002t0002g0111 a0002c0002t0003g0014 a0002c0002t0003g0040 a0002c0002t0003g0041 a0002c0002t0003g0042 a0002c0002t0003g0043 a0002c0002t0003g0044 a0002c0002t0003g0045 a0002c0002t0003g0046 a0002c0002t0003g0047 a0002c0002t0003g0048 a0002c0002t0003g0049 a0002c0002t0003g0093 a0002c0003t0002g0008 a0002c0003t0002g0016 a0002c0003t0002g0018 a0002c0003t0002g0053 a0002c0003t0002g0058 a0002c0003t0002g0059 a0002c0003t0002g0060 a0002c0003t0002g0061 a0002c0003t0002g0064 a0002c0003t0002g0065 a0002c0003t0002g0066 a0002c0003t0002g0067 a0002c0003t0002g0073 a0002c0003t0002g0074 a0002c0003t0002g0076 a0002c0003t0002g0079 a0002c0003t0002g0084 a0002c0003t0002g0087 a0002c0003t0002g0090 a0002c0003t0002g0091 a0002c0003t0004g0012 a0002c0003t0004g0034 a0002c0003t0004g0035 a0002c0003t0004g0036 a0002c0003t0004g0037 a0002c0008t0002g0070 a0003c0004t0003g0022 a0003c0004t0003g0095 a0003c0004t0003g0096 a0003c0004t0003g0099 a0003c0004t0003g0100 a0003c0004t0003g0101 a0003c0004t0003g0102 a0003c0004t0003g0103 a0003c0004t0003g0104 a0003c0004t0003g0105 a0003c0004t0003g0106 a0003c0004t0003g0107 a0003c0004t0003g0109 a0003c0005t0003g0020 a0003c0005t0003g0021 a0003c0005t0003g0094 a0003c0005t0003g0097 a0003c0005t0003g0098 a0005c0015t0002g0089 a0006c0010t0003g0092 a0007c0009t0002g0069	106	272	0.3897	5	c.-26 others(16): Show c.-2677_-2673dupATTTT	ECD	ENSG00000122882.11	transcript	ENST00000372979.9	protein_coding		2517		chr10	TogoVar
ECE1_chr1_21212250_21295463	21216602	T T	TTTTTC TTTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG01069.hp2 HG01071.hp1 others(52): Show HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp2 HG01109.hp2 HG01167.hp2 HG01192.hp2 HG01516.hp2 HG01884.hp2 HG02055.hp2 HG02109.hp2 HG02145.hp1 HG02257.hp2 HG02486.hp2 HG02559.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp2 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA19043.hp1 NA19240.hp2 NA20300.hp2 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0010	a0001c0001 a0001c0002 a0001c0007 others(5): Show a0001c0001 a0001c0002 a0001c0007 a0001c0013 a0001c0017 a0002c0006 a0003c0016 a0010c0018	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(16): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0024 a0001c0001t0035 a0001c0002t0004 a0001c0002t0005 a0001c0002t0009 a0001c0002t0010 a0001c0002t0011 a0001c0002t0012 a0001c0002t0034 a0001c0007t0004 a0001c0013t0004 a0001c0017t0020 a0002c0006t0015 a0002c0006t0016 a0003c0016t0023 a0010c0018t0017	a0001c0001t0001g0187 a0001c0001t0004g0289 a0001c0001t0007g0008 others(50): Show a0001c0001t0001g0187 a0001c0001t0004g0289 a0001c0001t0007g0008 a0001c0001t0007g0244 a0001c0001t0007g0245 a0001c0001t0007g0246 a0001c0001t0007g0273 a0001c0001t0007g0275 a0001c0001t0024g0210 a0001c0001t0035g0097 a0001c0002t0004g0009 a0001c0002t0004g0084 a0001c0002t0004g0098 a0001c0002t0004g0214 a0001c0002t0004g0249 a0001c0002t0004g0250 a0001c0002t0004g0256 a0001c0002t0004g0257 a0001c0002t0004g0259 a0001c0002t0004g0263 a0001c0002t0004g0265 a0001c0002t0004g0266 a0001c0002t0004g0267 a0001c0002t0004g0278 a0001c0002t0004g0281 a0001c0002t0004g0285 a0001c0002t0004g0291 a0001c0002t0004g0293 a0001c0002t0005g0104 a0001c0002t0005g0201 a0001c0002t0005g0205 a0001c0002t0005g0231 a0001c0002t0005g0232 a0001c0002t0005g0237 a0001c0002t0005g0242 a0001c0002t0005g0243 a0001c0002t0009g0227 a0001c0002t0009g0239 a0001c0002t0009g0274 a0001c0002t0010g0213 a0001c0002t0010g0264 a0001c0002t0011g0016 a0001c0002t0011g0241 a0001c0002t0012g0108 a0001c0002t0012g0234 a0001c0002t0034g0260 a0001c0007t0004g0215 a0001c0013t0004g0268 a0001c0017t0020g0235 a0002c0006t0015g0011 a0002c0006t0016g0172 a0003c0016t0023g0233 a0010c0018t0017g0236	55	304	0.1809	5	c.33 others(16): Show c.3352_*3353insGAAAA	ECE1	ENSG00000117298.16	transcript	ENST00000374893.11	protein_coding		647		chr1	TogoVar
ECE1_chr1_21212250_21295463	21249939	A A	ATTTTT ATTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02258.hp1 HG02280.hp2 others(12): Show HG02257.hp1 HG02258.hp1 HG02280.hp2 HG02809.hp2 HG02896.hp2 HG03098.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG06807.hp1 NA18906.hp2 NA18943.hp2 NA18979.hp2 NA19078.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0024 a0001c0001t0025 a0001c0001t0031 a0001c0002t0010 a0001c0002t0014	a0001c0001t0001g0031 a0001c0001t0001g0035 a0001c0001t0002g0272 others(12): Show a0001c0001t0001g0031 a0001c0001t0001g0035 a0001c0001t0002g0272 a0001c0001t0003g0018 a0001c0001t0003g0189 a0001c0001t0003g0200 a0001c0001t0003g0202 a0001c0001t0003g0203 a0001c0001t0024g0210 a0001c0001t0025g0207 a0001c0001t0031g0101 a0001c0002t0010g0213 a0001c0002t0010g0264 a0001c0002t0014g0229 a0001c0002t0014g0230	15	304	0.0493	5	c.102 others(24): Show c.1021-2581_1021-2577dupAAAAA	ECE1	ENSG00000117298.16	transcript	ENST00000374893.11	protein_coding	8/18			chr1	TogoVar
ECE1_chr1_21212250_21295463	21281191	G G	GAAAAC GAAAAC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG02622.hp1 others(6): Show HG01069.hp2 HG01071.hp1 HG02622.hp1 HG02630.hp2 HG02886.hp1 HG02922.hp1 HG03239.hp1 HG03579.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0004 a0001c0002t0009	a0001c0001t0001g0063 a0001c0001t0001g0251 a0001c0001t0002g0282 others(6): Show a0001c0001t0001g0063 a0001c0001t0001g0251 a0001c0001t0002g0282 a0001c0002t0004g0249 a0001c0002t0004g0250 a0001c0002t0004g0256 a0001c0002t0004g0263 a0001c0002t0004g0285 a0001c0002t0009g0274	9	304	0.0296	5	c.139 others(22): Show c.139-1864_139-1860dupGTTTT	ECE1	ENSG00000117298.16	transcript	ENST00000374893.11	protein_coding	2/18			chr1	TogoVar
ECE1_chr1_21212250_21295463	21281684	G G	GTGTTT GTGTTT	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01517.hp1 HG02622.hp1 others(2): Show HG01516.hp1 HG01517.hp1 HG02622.hp1 HG02630.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0024 a0001c0002t0004 a0001c0001t0001 a0001c0001t0024 a0001c0002t0004	a0001c0001t0001g0006 a0001c0001t0024g0210 a0001c0002t0004g0256 others(1): Show a0001c0001t0001g0006 a0001c0001t0024g0210 a0001c0002t0004g0256 a0001c0002t0004g0285	5	304	0.0165	5	c.139 others(22): Show c.139-2357_139-2353dupAAACA	ECE1	ENSG00000117298.16	transcript	ENST00000374893.11	protein_coding	2/18			chr1	TogoVar
ECH1_chr19_38810422_38836794	38820053	C C	CTTTTT CTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01433.hp1 HG01884.hp2 others(23): Show HG00741.hp1 HG01433.hp1 HG01884.hp2 HG01978.hp1 HG02004.hp2 HG02129.hp1 HG02135.hp1 HG02165.hp1 HG02572.hp2 HG03486.hp1 HG03492.hp1 HG03710.hp1 NA18942.hp2 NA18948.hp1 NA18949.hp2 NA18952.hp1 NA18952.hp2 NA18968.hp1 NA18994.hp1 NA19003.hp1 NA19007.hp2 NA19054.hp2 NA19081.hp2 NA19084.hp2 NA19089.hp2 NA19091.hp1	a0002 a0005 a0006 a0002 a0005 a0006	a0002c0002 a0005c0007 a0006c0015 a0002c0002 a0005c0007 a0006c0015	a0002c0002t0001 a0002c0002t0002 a0005c0007t0001 others(1): Show a0002c0002t0001 a0002c0002t0002 a0005c0007t0001 a0006c0015t0001	a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0192 others(21): Show a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0192 a0002c0002t0001g0193 a0002c0002t0001g0207 a0002c0002t0001g0208 a0002c0002t0001g0209 a0002c0002t0001g0210 a0002c0002t0001g0211 a0002c0002t0001g0212 a0002c0002t0001g0230 a0002c0002t0001g0231 a0002c0002t0001g0233 a0002c0002t0001g0234 a0002c0002t0001g0235 a0002c0002t0001g0236 a0002c0002t0001g0244 a0002c0002t0001g0246 a0002c0002t0001g0253 a0002c0002t0002g0239 a0005c0007t0001g0202 a0005c0007t0001g0203 a0005c0007t0001g0254 a0006c0015t0001g0206	26	420	0.0619	5	c.350 others(22): Show c.350-2483_350-2479dupAAAAA	ECH1	ENSG00000104823.9	transcript	ENST00000221418.9	protein_coding	3/9			chr19	TogoVar
ECHDC1_chr6_127283712_127348609	127285529	C C	CTTTTT CTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00642.hp1 HG00642.hp2 others(48): Show HG00280.hp2 HG00642.hp1 HG00642.hp2 HG01106.hp2 HG01255.hp1 HG01257.hp2 HG01358.hp2 HG01433.hp1 HG01517.hp2 HG01928.hp2 HG01975.hp2 HG01993.hp2 HG02004.hp2 HG02055.hp1 HG02109.hp2 HG02523.hp2 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02965.hp2 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03239.hp2 HG03471.hp1 HG03486.hp2 HG03540.hp1 HG03688.hp1 HG03688.hp2 HG03834.hp2 HG04184.hp1 HG04199.hp2 NA18522.hp1 NA18942.hp1 NA18954.hp2 NA18978.hp1 NA18980.hp2 NA19002.hp1 NA19004.hp1 NA19030.hp2 NA19057.hp2 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 others(46): Show a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0234 a0001c0001t0002g0241 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0003g0119 a0001c0001t0003g0123 a0001c0001t0003g0126 a0001c0001t0003g0129	51	358	0.1425	5	c.43 others(16): Show c.4335_*4339dupAAAAA	ECHDC1	ENSG00000093144.19	transcript	ENST00000454859.8	protein_coding		3182		chr6	TogoVar
ECHDC3_chr10_11737382_11769070	11741277	T T	TAAATC TAAATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(220): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp2 HG01433.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG01891.hp1 HG01928.hp2 HG01934.hp1 HG01952.hp2 HG01975.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02071.hp1 HG02071.hp2 HG02083.hp2 HG02129.hp2 HG02132.hp2 HG02148.hp1 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp2 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG02970.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18747.hp1 NA18939.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp2 NA18947.hp1 NA18950.hp2 NA18952.hp1 NA18953.hp2 NA18954.hp1 NA18957.hp2 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18969.hp1 NA18971.hp2 NA18974.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18990.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19001.hp1 NA19004.hp2 NA19006.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19054.hp1 NA19055.hp1 NA19055.hp2 NA19057.hp1 NA19058.hp2 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp2 NA19066.hp2 NA19067.hp1 NA19068.hp2 NA19070.hp1 NA19072.hp1 NA19072.hp2 NA19077.hp2 NA19078.hp2 NA19081.hp2 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19088.hp2 NA19089.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0011 a0012	a0001c0001 a0001c0003 a0001c0005 others(10): Show a0001c0001 a0001c0003 a0001c0005 a0001c0020 a0001c0023 a0002c0008 a0003c0004 a0003c0026 a0004c0007 a0005c0009 a0006c0011 a0011c0021 a0012c0024	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(14): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0003t0001 a0001c0003t0005 a0001c0005t0001 a0001c0020t0001 a0001c0023t0001 a0002c0008t0009 a0003c0004t0001 a0003c0026t0001 a0004c0007t0001 a0005c0009t0001 a0006c0011t0001 a0011c0021t0001 a0012c0024t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(117): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0016 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0186 a0001c0001t0004g0136 a0001c0001t0004g0152 a0001c0001t0007g0004 a0001c0001t0008g0169 a0001c0003t0001g0005 a0001c0003t0001g0206 a0001c0003t0005g0092 a0001c0005t0001g0014 a0001c0005t0001g0022 a0001c0005t0001g0031 a0001c0005t0001g0104 a0001c0005t0001g0106 a0001c0005t0001g0110 a0001c0020t0001g0099 a0001c0023t0001g0097 a0002c0008t0009g0228 a0003c0004t0001g0013 a0003c0004t0001g0014 a0003c0004t0001g0015 a0003c0004t0001g0103 a0003c0004t0001g0105 a0003c0004t0001g0107 a0003c0004t0001g0108 a0003c0004t0001g0109 a0003c0004t0001g0111 a0003c0004t0001g0112 a0003c0004t0001g0113 a0003c0004t0001g0114 a0003c0004t0001g0115 a0003c0004t0001g0116 a0003c0026t0001g0101 a0004c0007t0001g0007 a0004c0007t0001g0216 a0005c0009t0001g0001 a0005c0009t0001g0017 a0005c0009t0001g0063 a0006c0011t0001g0224 a0006c0011t0001g0225 a0011c0021t0001g0163 a0012c0024t0001g0098	223	420	0.5310	5	c.-13 others(16): Show c.-1300_-1299insAAATC	ECHDC3	ENSG00000134463.15	transcript	ENST00000379215.9	protein_coding		1104		chr10	TogoVar
ECHDC3_chr10_11737382_11769070	11742350	C C	CCGGGG CCGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 HG03579.hp1 NA20129.hp1 HG02723.hp2 HG03579.hp1 NA20129.hp1	a0002 a0006 a0002 a0006	a0002c0006 a0006c0011 a0002c0006 a0006c0011	a0002c0006t0003 a0006c0011t0001 a0002c0006t0003 a0006c0011t0001	a0002c0006t0003g0027 a0006c0011t0001g0224 a0006c0011t0001g0225 a0002c0006t0003g0027 a0006c0011t0001g0224 a0006c0011t0001g0225	3	420	0.0071	5	c.-22 others(14): Show c.-227_-226insCGGGG	ECHDC3	ENSG00000134463.15	transcript	ENST00000379215.9	protein_coding		31		chr10	TogoVar
ECHDC3_chr10_11737382_11769070	11752278	A A	ATTTTT ATTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01175.hp1 HG01928.hp2 others(6): Show HG00423.hp1 HG01175.hp1 HG01928.hp2 HG02280.hp2 HG02886.hp2 HG03098.hp2 NA18977.hp1 NA19030.hp1 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0143 others(6): Show a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0149 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0173	9	420	0.0214	5	c.390 others(22): Show c.390+2703_390+2707dupTTTTT	ECHDC3	ENSG00000134463.15	transcript	ENST00000379215.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr10	TogoVar
ECI1_chr16_2234402_2256587	2241152	C C	CAAAAA CAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02809.hp2 HG02965.hp1 others(4): Show HG02258.hp2 HG02809.hp2 HG02965.hp1 HG02970.hp2 HG03139.hp2 HG03579.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0094 a0001c0001t0003g0096 a0001c0001t0003g0100 others(4): Show a0001c0001t0003g0094 a0001c0001t0003g0096 a0001c0001t0003g0100 a0001c0001t0003g0182 a0001c0001t0003g0190 a0001c0001t0004g0102 a0001c0001t0004g0149	7	436	0.0161	5	c.743 others(22): Show c.743-1012_743-1008dupTTTTT	ECI1	ENSG00000167969.13	transcript	ENST00000301729.9	protein_coding	6/6			chr16	TogoVar
ECI1_chr16_2234402_2256587	2249876	C C	CAAAAA CAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00621.hp1 HG00735.hp1 others(51): Show HG00609.hp2 HG00621.hp1 HG00735.hp1 HG01074.hp2 HG01106.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01361.hp2 HG01884.hp2 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG01993.hp2 HG02055.hp1 HG02056.hp2 HG02071.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02622.hp1 HG02630.hp2 HG02965.hp2 HG03098.hp2 HG03195.hp1 HG03471.hp1 HG03471.hp2 HG03710.hp1 HG03834.hp2 HG04204.hp2 NA18522.hp1 NA18950.hp1 NA18965.hp2 NA18966.hp1 NA18970.hp2 NA18972.hp1 NA18973.hp2 NA18990.hp1 NA19004.hp2 NA19011.hp1 NA19012.hp1 NA19030.hp2 NA19060.hp1 NA19062.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19240.hp1 NA20129.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0007 a0009 a0001 a0007 a0009	a0001c0001 a0001c0002 a0007c0012 others(1): Show a0001c0001 a0001c0002 a0007c0012 a0009c0008	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0007c0012t0001 a0009c0008t0001	a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0016 others(30): Show a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0029 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0053 a0001c0001t0001g0080 a0001c0001t0001g0084 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0002g0037 a0001c0002t0001g0268 a0007c0012t0001g0152 a0009c0008t0001g0176	54	436	0.1239	5	c.166 others(22): Show c.166+1435_166+1439dupTTTTT	ECI1	ENSG00000167969.13	transcript	ENST00000301729.9	protein_coding	2/6			chr16	TogoVar
ECM1_chr1_150503109_150518789	150516089	C C	CAAAAA CAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02280.hp2 HG02486.hp2 others(4): Show HG02257.hp1 HG02280.hp2 HG02486.hp2 HG02970.hp2 HG03130.hp1 HG03540.hp2 NA18906.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0010 a0003c0004t0002g0010	7	420	0.0167	5	c.26 others(16): Show c.2622_*2623insAAAAA	ECM1	ENSG00000143369.15	transcript	ENST00000369047.9	protein_coding		2301		chr1	TogoVar
ECM2_chr9_92490315_92540990	92504184	T T	TAAAAA TAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00642.hp1 HG01168.hp1 others(20): Show HG00280.hp1 HG00642.hp1 HG01168.hp1 HG01169.hp2 HG01346.hp1 HG02015.hp1 HG02165.hp1 HG02486.hp1 HG03710.hp1 HG03831.hp1 HG03942.hp2 HG04115.hp2 NA18951.hp1 NA18963.hp2 NA18973.hp2 NA18980.hp2 NA18984.hp1 NA18993.hp2 NA18995.hp2 NA19001.hp2 NA19075.hp1 NA19078.hp2 NA19091.hp2	a0003 a0005 a0009 a0003 a0005 a0009	a0003c0004 a0005c0014 a0009c0021 a0003c0004 a0005c0014 a0009c0021	a0003c0004t0002 a0003c0004t0007 a0005c0014t0002 others(1): Show a0003c0004t0002 a0003c0004t0007 a0005c0014t0002 a0009c0021t0006	a0003c0004t0002g0042 a0003c0004t0002g0043 a0003c0004t0002g0044 others(20): Show a0003c0004t0002g0042 a0003c0004t0002g0043 a0003c0004t0002g0044 a0003c0004t0002g0045 a0003c0004t0002g0046 a0003c0004t0002g0047 a0003c0004t0002g0048 a0003c0004t0002g0049 a0003c0004t0002g0050 a0003c0004t0002g0051 a0003c0004t0002g0053 a0003c0004t0002g0054 a0003c0004t0002g0055 a0003c0004t0002g0056 a0003c0004t0002g0057 a0003c0004t0002g0058 a0003c0004t0002g0060 a0003c0004t0002g0061 a0003c0004t0002g0062 a0003c0004t0007g0041 a0005c0014t0002g0039 a0005c0014t0002g0040 a0009c0021t0006g0063	23	400	0.0575	5	c.146 others(24): Show c.1464+1348_1464+1349insTTTTT	ECM2	ENSG00000106823.13	transcript	ENST00000344604.10	protein_coding	7/9			chr9	TogoVar
ECM2_chr9_92490315_92540990	92532015	G G	GTTTTT GTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01433.hp2 HG02572.hp2 others(3): Show HG01074.hp2 HG01433.hp2 HG02572.hp2 HG03579.hp1 HG03834.hp1 NA19075.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0004 a0001c0002 a0003c0004	a0001c0002t0002 a0003c0004t0002 a0001c0002t0002 a0003c0004t0002	a0001c0002t0002g0082 a0001c0002t0002g0086 a0001c0002t0002g0097 others(3): Show a0001c0002t0002g0082 a0001c0002t0002g0086 a0001c0002t0002g0097 a0001c0002t0002g0098 a0001c0002t0002g0099 a0003c0004t0002g0044	6	400	0.0150	5	c.-28 others(22): Show c.-28+3913_-28+3917dupAAAAA	ECM2	ENSG00000106823.13	transcript	ENST00000344604.10	protein_coding	1/9			chr9	TogoVar
ECPAS_chr9_111355685_111489383	111358374	T T	TAAAAA TAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp2 HG03834.hp2 NA18962.hp2 others(3): Show HG03688.hp2 HG03834.hp2 NA18962.hp2 NA18967.hp2 NA19012.hp2 NA19068.hp2	a0002 a0003 a0002 a0003	a0002c0003 a0002c0015 a0003c0005 a0002c0003 a0002c0015 a0003c0005	a0002c0003t0001 a0002c0015t0001 a0003c0005t0002 a0002c0003t0001 a0002c0015t0001 a0003c0005t0002	a0002c0003t0001g0266 a0002c0015t0001g0319 a0003c0005t0002g0252 others(3): Show a0002c0003t0001g0266 a0002c0015t0001g0319 a0003c0005t0002g0252 a0003c0005t0002g0253 a0003c0005t0002g0255 a0003c0005t0002g0261	6	354	0.0170	5	c.36 others(16): Show c.3655_*3656insTTTTT	ECPAS	ENSG00000136813.15	transcript	ENST00000684092.1	protein_coding		2310		chr9	TogoVar
ECPAS_chr9_111355685_111489383	111407403	G G	GAAAAA GAAAAA	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG02071.hp1 HG02486.hp2 others(4): Show HG01993.hp2 HG02071.hp1 HG02486.hp2 HG03942.hp1 NA18946.hp1 NA18956.hp2 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0161 a0001c0001t0001g0183 a0001c0001t0001g0196 others(4): Show a0001c0001t0001g0161 a0001c0001t0001g0183 a0001c0001t0001g0196 a0001c0001t0001g0212 a0001c0001t0001g0217 a0001c0001t0001g0230 a0001c0001t0010g0350	7	354	0.0198	5	c.265 others(24): Show c.2652+1163_2652+1167dupTTTTT	ECPAS	ENSG00000136813.15	transcript	ENST00000684092.1	protein_coding	24/49			chr9	TogoVar
ECPAS_chr9_111355685_111489383	111434896	C C	CTTTTT CTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02055.hp1 HG02109.hp2 others(4): Show HG00642.hp1 HG02055.hp1 HG02109.hp2 HG02258.hp2 HG03710.hp1 HG03831.hp2 HG04115.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0004 a0002c0002t0001 a0002c0002t0004	a0002c0002t0001g0127 a0002c0002t0001g0128 a0002c0002t0001g0135 others(4): Show a0002c0002t0001g0127 a0002c0002t0001g0128 a0002c0002t0001g0135 a0002c0002t0001g0143 a0002c0002t0001g0344 a0002c0002t0004g0311 a0002c0002t0004g0312	7	354	0.0198	5	c.709 others(22): Show c.709-1529_709-1525dupAAAAA	ECPAS	ENSG00000136813.15	transcript	ENST00000684092.1	protein_coding	7/49			chr9	TogoVar
ECRG4_chr2_106060688_106083155	106067059	C C	CGGGGG CGGGGG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00558.hp2 HG01099.hp1 others(42): Show HG00323.hp1 HG00558.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01433.hp2 HG01884.hp2 HG01978.hp2 HG02071.hp1 HG02109.hp1 HG02602.hp2 HG03654.hp2 HG03710.hp2 HG03942.hp2 NA18522.hp2 NA18747.hp2 NA18943.hp1 NA18944.hp2 NA18948.hp2 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18970.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18985.hp1 NA18991.hp1 NA18994.hp1 NA18998.hp1 NA18998.hp2 NA19001.hp1 NA19011.hp1 NA19011.hp2 NA19063.hp1 NA19063.hp2 NA19077.hp2 NA19090.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0021 others(25): Show a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0051 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0195 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297	45	434	0.1037	5	c.79+ others(20): Show c.79+1228_79+1232dupGGGGG	ECRG4	ENSG00000119147.10	transcript	ENST00000238044.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
ECRG4_chr2_106060688_106083155	106067062	G G	GGCGGA GGCGGA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00597.hp1 HG00597.hp2 others(24): Show HG00408.hp1 HG00597.hp1 HG00597.hp2 HG00673.hp1 HG02040.hp1 HG02071.hp2 HG02257.hp2 HG02280.hp2 HG02486.hp2 HG02602.hp1 HG02738.hp1 HG02895.hp2 HG03490.hp1 HG03669.hp2 HG03688.hp1 HG03831.hp1 HG03831.hp2 HG04115.hp1 HG04199.hp1 NA18943.hp2 NA18981.hp1 NA19001.hp2 NA19006.hp1 NA19030.hp2 NA19062.hp1 NA19070.hp1 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0010 a0001c0002 a0001c0010	a0001c0002t0001 a0001c0010t0001 a0001c0002t0001 a0001c0010t0001	a0001c0002t0001g0005 a0001c0002t0001g0010 a0001c0002t0001g0034 others(14): Show a0001c0002t0001g0005 a0001c0002t0001g0010 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0103 a0001c0002t0001g0108 a0001c0010t0001g0005	27	434	0.0622	5	c.79+ others(20): Show c.79+1220_79+1221insCGGAG	ECRG4	ENSG00000119147.10	transcript	ENST00000238044.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
ECRG4_chr2_106060688_106083155	106071322	T T	TAAAAA TAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01168.hp2 HG01169.hp1 others(15): Show HG00099.hp1 HG01168.hp2 HG01169.hp1 HG01255.hp1 HG02056.hp2 NA18943.hp1 NA18944.hp1 NA18948.hp1 NA18957.hp2 NA18967.hp2 NA18971.hp1 NA18977.hp1 NA18981.hp2 NA19009.hp1 NA19011.hp1 NA19011.hp2 NA19083.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0111 others(11): Show a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0111 a0001c0001t0001g0158 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0280 a0001c0001t0001g0284 a0001c0001t0001g0286 a0001c0001t0001g0291 a0001c0001t0001g0294 a0001c0001t0001g0304	18	434	0.0415	5	c.80- others(18): Show c.80-496_80-492dupAAAAA	ECRG4	ENSG00000119147.10	transcript	ENST00000238044.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
ECRG4_chr2_106060688_106083155	106080771	G G	GTGTTT GTGTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(291): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18941.hp1 NA18944.hp2 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18966.hp2 NA18967.hp1 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18972.hp1 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18978.hp2 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18989.hp2 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18995.hp2 NA18998.hp1 NA18999.hp2 NA19000.hp1 NA19001.hp1 NA19001.hp2 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19007.hp1 NA19009.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19059.hp1 NA19059.hp2 NA19062.hp1 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19072.hp1 NA19074.hp1 NA19074.hp2 NA19077.hp2 NA19081.hp1 NA19082.hp2 NA19085.hp1 NA19085.hp2 NA19089.hp1 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0010 a0002c0004 a0002c0007 a0003c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0003t0001 a0001c0005t0001 a0001c0010t0001 a0002c0004t0001 a0002c0007t0001 a0003c0009t0001	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0009 others(215): Show a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0214 a0001c0001t0001g0220 a0001c0001t0001g0224 a0001c0001t0001g0231 a0001c0001t0001g0237 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0271 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0289 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0002g0044 a0001c0001t0002g0240 a0001c0001t0003g0127 a0001c0001t0003g0192 a0001c0001t0003g0193 a0001c0001t0003g0210 a0001c0001t0004g0244 a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0005 a0001c0002t0001g0010 a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0036 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0076 a0001c0002t0001g0078 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0083 a0001c0002t0001g0085 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0102 a0001c0002t0001g0103 a0001c0002t0001g0105 a0001c0002t0001g0106 a0001c0002t0002g0077 a0001c0002t0006g0004 a0001c0003t0001g0049 a0001c0003t0001g0215 a0001c0003t0001g0254 a0001c0003t0001g0255 a0001c0005t0001g0043 a0001c0005t0001g0134 a0001c0005t0001g0136 a0001c0005t0001g0137 a0001c0005t0001g0160 a0001c0005t0001g0173 a0001c0005t0001g0174 a0001c0010t0001g0005 a0002c0004t0001g0112 a0002c0004t0001g0133 a0002c0004t0001g0147 a0002c0004t0001g0148 a0002c0004t0001g0194 a0002c0004t0001g0247 a0002c0004t0001g0253 a0002c0004t0001g0270 a0002c0007t0001g0104 a0003c0009t0001g0184	294	434	0.6774	5	c.28 others(16): Show c.2845_*2846insTGTTT	ECRG4	ENSG00000119147.10	transcript	ENST00000238044.8	protein_coding		2617		chr2	TogoVar
ECSCR_chr5_139443560_139467743	139455814	T T	TAAAAA TAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02145.hp1 HG02622.hp1 others(5): Show HG01243.hp2 HG02145.hp1 HG02622.hp1 HG02897.hp1 HG03486.hp2 NA18956.hp2 NA18986.hp1 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0054 others(3): Show a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0054 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0118	8	369	0.0217	5	c.263 others(20): Show c.263-383_263-379dupTTTTT	ECSCR	ENSG00000249751.4	transcript	ENST00000618155.3	protein_coding	5/9			chr5	TogoVar
ECSIT_chr19_11500929_11534134	11530873	A A	ATATTT ATATTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00558.hp1 HG00735.hp1 others(79): Show HG00408.hp2 HG00558.hp1 HG00735.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp2 HG01109.hp2 HG01168.hp2 HG01361.hp1 HG01496.hp2 HG01884.hp1 HG01928.hp1 HG01943.hp2 HG01952.hp2 HG02004.hp2 HG02055.hp1 HG02056.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02148.hp2 HG02165.hp1 HG02257.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02735.hp2 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03688.hp1 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG06807.hp2 NA18962.hp1 NA18973.hp1 NA18979.hp2 NA18981.hp2 NA19030.hp2 NA19060.hp2 NA19068.hp2 NA19079.hp2 NA19080.hp1 NA19087.hp1 NA19091.hp1 NA19240.hp1	a0001 a0007 a0008 a0001 a0007 a0008	a0001c0001 a0007c0008 a0008c0011 a0001c0001 a0007c0008 a0008c0011	a0001c0001t0001 a0001c0001t0002 a0007c0008t0002 others(1): Show a0001c0001t0001 a0001c0001t0002 a0007c0008t0002 a0008c0011t0002	a0001c0001t0001g0008 a0001c0001t0001g0017 a0001c0001t0001g0019 others(70): Show a0001c0001t0001g0008 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0061 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0101 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0018 a0001c0001t0002g0020 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0038 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0071 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0102 a0001c0001t0002g0103 a0007c0008t0002g0100 a0008c0011t0002g0049	82	312	0.2628	5	c.-18 others(16): Show c.-1836_-1835insAAATA	ECSIT	ENSG00000130159.15	transcript	ENST00000270517.12	protein_coding		1740		chr19	TogoVar
ECT2L_chr6_138791087_138909070	138806511	C C	CTTCTT CTTCTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00423.hp1 HG00558.hp2 others(56): Show HG00323.hp1 HG00423.hp1 HG00558.hp2 HG01261.hp2 HG01358.hp2 HG01515.hp1 HG01884.hp2 HG01928.hp2 HG01934.hp1 HG01975.hp2 HG02027.hp1 HG02109.hp1 HG02129.hp2 HG02132.hp2 HG02257.hp2 HG02451.hp1 HG02559.hp2 HG02976.hp1 HG03139.hp1 HG03225.hp2 HG03486.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG04228.hp1 NA18612.hp2 NA18906.hp2 NA18942.hp1 NA18943.hp2 NA18951.hp1 NA18954.hp2 NA18962.hp1 NA18968.hp1 NA18973.hp2 NA18974.hp2 NA18975.hp1 NA18978.hp1 NA18980.hp2 NA18984.hp2 NA18986.hp2 NA18989.hp1 NA18990.hp1 NA18998.hp1 NA18998.hp2 NA19010.hp2 NA19060.hp2 NA19068.hp1 NA19072.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19083.hp2 NA19086.hp1 NA19086.hp2 NA19091.hp2 NA19240.hp1 NA20300.hp1 NA20805.hp1 NA20905.hp2	a0001 a0002 a0005 others(6): Show a0001 a0002 a0005 a0011 a0012 a0013 a0015 a0017 a0023	a0001c0001 a0001c0003 a0001c0009 others(9): Show a0001c0001 a0001c0003 a0001c0009 a0001c0033 a0002c0002 a0005c0007 a0011c0016 a0012c0019 a0013c0038 a0015c0023 a0017c0035 a0023c0036	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0003t0002 a0001c0003t0003 a0001c0009t0001 a0001c0033t0002 a0002c0002t0001 a0002c0002t0007 a0002c0002t0019 a0005c0007t0001 a0011c0016t0002 a0012c0019t0011 a0013c0038t0002 a0015c0023t0002 a0017c0035t0003 a0023c0036t0002	a0001c0001t0001g0161 a0001c0001t0001g0165 a0001c0001t0001g0169 others(56): Show a0001c0001t0001g0161 a0001c0001t0001g0165 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0179 a0001c0001t0001g0186 a0001c0001t0001g0306 a0001c0001t0002g0160 a0001c0001t0002g0174 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0194 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0296 a0001c0001t0004g0195 a0001c0001t0004g0197 a0001c0003t0002g0163 a0001c0003t0002g0164 a0001c0003t0002g0172 a0001c0003t0002g0176 a0001c0003t0002g0177 a0001c0003t0002g0185 a0001c0003t0002g0187 a0001c0003t0002g0188 a0001c0003t0002g0190 a0001c0003t0002g0191 a0001c0003t0002g0192 a0001c0003t0002g0193 a0001c0003t0002g0304 a0001c0003t0002g0326 a0001c0003t0003g0196 a0001c0003t0003g0198 a0001c0009t0001g0170 a0001c0033t0002g0299 a0002c0002t0001g0162 a0002c0002t0001g0175 a0002c0002t0001g0178 a0002c0002t0001g0181 a0002c0002t0001g0189 a0002c0002t0001g0205 a0002c0002t0001g0295 a0002c0002t0001g0297 a0002c0002t0007g0166 a0002c0002t0019g0167 a0005c0007t0001g0300 a0005c0007t0001g0301 a0005c0007t0001g0302 a0005c0007t0001g0303 a0011c0016t0002g0307 a0011c0016t0002g0308 a0012c0019t0011g0168 a0013c0038t0002g0173 a0015c0023t0002g0180 a0017c0035t0003g0159 a0023c0036t0002g0305	59	326	0.1810	5	c.-24 others(24): Show c.-243-6325_-243-6324insCTTTT	ECT2L	ENSG00000203734.13	transcript	ENST00000541398.7	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
ECT2L_chr6_138791087_138909070	138806511	C C	CTTTTT CTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00738.hp2 HG01952.hp2 others(17): Show HG00558.hp1 HG00738.hp2 HG01952.hp2 HG02145.hp2 HG02572.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG03139.hp2 HG03453.hp1 HG03471.hp1 HG03516.hp2 HG03834.hp1 HG03927.hp1 HG06807.hp1 NA18522.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0006 a0007 a0010 a0012 a0022	a0001c0001 a0002c0002 a0002c0005 others(8): Show a0001c0001 a0002c0002 a0002c0005 a0003c0004 a0004c0006 a0006c0011 a0006c0015 a0007c0010 a0010c0017 a0012c0019 a0022c0026	a0001c0001t0002 a0001c0001t0008 a0002c0002t0001 others(11): Show a0001c0001t0002 a0001c0001t0008 a0002c0002t0001 a0002c0005t0002 a0002c0005t0013 a0003c0004t0007 a0004c0006t0015 a0006c0011t0014 a0006c0011t0021 a0006c0015t0003 a0007c0010t0010 a0010c0017t0012 a0012c0019t0011 a0022c0026t0012	a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0156 others(17): Show a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0156 a0001c0001t0008g0046 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0005t0002g0323 a0002c0005t0013g0217 a0002c0005t0013g0220 a0003c0004t0007g0324 a0004c0006t0015g0213 a0006c0011t0014g0013 a0006c0011t0021g0236 a0006c0015t0003g0238 a0006c0015t0003g0239 a0007c0010t0010g0206 a0010c0017t0012g0219 a0010c0017t0012g0221 a0012c0019t0011g0151 a0022c0026t0012g0218	20	326	0.0614	5	c.-24 others(24): Show c.-243-6312_-243-6308dupTTTTT	ECT2L	ENSG00000203734.13	transcript	ENST00000541398.7	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
ECT2L_chr6_138791087_138909070	138824577	A A	AAAAAC AAAAAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG01081.hp2 others(62): Show HG00099.hp2 HG00280.hp1 HG01081.hp2 HG01168.hp1 HG01169.hp2 HG01192.hp1 HG01255.hp1 HG01255.hp2 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01928.hp1 HG01943.hp1 HG01952.hp1 HG02145.hp1 HG02293.hp1 HG02559.hp1 HG02602.hp2 HG02622.hp2 HG02630.hp1 HG02717.hp1 HG02723.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02970.hp1 HG03041.hp2 HG03098.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03516.hp2 HG03831.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18947.hp2 NA18951.hp2 NA18957.hp2 NA18960.hp2 NA18970.hp1 NA18985.hp2 NA18993.hp2 NA18998.hp2 NA19000.hp2 NA19006.hp2 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19056.hp1 NA19067.hp2 NA19087.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0006 a0008 a0009 a0017 a0024	a0001c0001 a0001c0003 a0001c0009 others(14): Show a0001c0001 a0001c0003 a0001c0009 a0001c0018 a0001c0021 a0001c0022 a0001c0034 a0002c0002 a0003c0004 a0004c0006 a0004c0008 a0006c0011 a0006c0015 a0008c0031 a0009c0012 a0017c0035 a0024c0020	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(28): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0022 a0001c0001t0024 a0001c0001t0029 a0001c0003t0003 a0001c0003t0005 a0001c0009t0004 a0001c0018t0020 a0001c0021t0004 a0001c0022t0003 a0001c0034t0023 a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0003c0004t0004 a0003c0004t0007 a0003c0004t0011 a0003c0004t0025 a0004c0006t0001 a0004c0006t0015 a0004c0008t0009 a0006c0011t0014 a0006c0011t0021 a0006c0015t0003 a0008c0031t0017 a0009c0012t0003 a0017c0035t0003 a0024c0020t0002	a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 others(62): Show a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0032 a0001c0001t0002g0035 a0001c0001t0003g0014 a0001c0001t0003g0017 a0001c0001t0003g0023 a0001c0001t0003g0028 a0001c0001t0003g0030 a0001c0001t0003g0034 a0001c0001t0003g0128 a0001c0001t0003g0129 a0001c0001t0003g0130 a0001c0001t0003g0133 a0001c0001t0003g0134 a0001c0001t0003g0140 a0001c0001t0003g0141 a0001c0001t0003g0146 a0001c0001t0003g0215 a0001c0001t0004g0040 a0001c0001t0004g0126 a0001c0001t0004g0127 a0001c0001t0004g0144 a0001c0001t0004g0157 a0001c0001t0004g0265 a0001c0001t0022g0287 a0001c0001t0024g0031 a0001c0001t0029g0262 a0001c0003t0003g0132 a0001c0003t0005g0292 a0001c0009t0004g0121 a0001c0018t0020g0007 a0001c0021t0004g0143 a0001c0022t0003g0142 a0001c0034t0023g0016 a0002c0002t0001g0024 a0002c0002t0003g0022 a0002c0002t0003g0145 a0002c0002t0004g0131 a0003c0004t0004g0241 a0003c0004t0004g0242 a0003c0004t0004g0243 a0003c0004t0007g0320 a0003c0004t0007g0321 a0003c0004t0007g0322 a0003c0004t0007g0324 a0003c0004t0011g0325 a0003c0004t0025g0244 a0004c0006t0001g0311 a0004c0006t0001g0313 a0004c0006t0015g0213 a0004c0006t0015g0312 a0004c0008t0009g0298 a0004c0008t0009g0309 a0004c0008t0009g0314 a0006c0011t0014g0013 a0006c0011t0014g0237 a0006c0011t0021g0236 a0006c0015t0003g0238 a0006c0015t0003g0239 a0008c0031t0017g0316 a0009c0012t0003g0021 a0017c0035t0003g0159 a0024c0020t0002g0315	65	326	0.1994	5	c.179 others(22): Show c.179+9977_179+9978insACAAA	ECT2L	ENSG00000203734.13	transcript	ENST00000541398.7	protein_coding	4/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
ECT2L_chr6_138791087_138909070	138860707	A A	ATTTTT ATTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02895.hp1 HG02965.hp2 others(3): Show HG02630.hp1 HG02895.hp1 HG02965.hp2 HG03139.hp2 HG03225.hp1 HG03486.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0003 a0006c0011 others(1): Show a0001c0001 a0001c0003 a0006c0011 a0006c0015	a0001c0001t0004 a0001c0003t0003 a0006c0011t0014 others(2): Show a0001c0001t0004 a0001c0003t0003 a0006c0011t0014 a0006c0011t0021 a0006c0015t0003	a0001c0001t0004g0040 a0001c0003t0003g0124 a0006c0011t0014g0013 others(3): Show a0001c0001t0004g0040 a0001c0003t0003g0124 a0006c0011t0014g0013 a0006c0011t0014g0237 a0006c0011t0021g0236 a0006c0015t0003g0238	6	326	0.0184	5	c.119 others(24): Show c.1199-1904_1199-1900dupTTTTT	ECT2L	ENSG00000203734.13	transcript	ENST00000541398.7	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
ECT2L_chr6_138791087_138909070	138887224	C C	CTTTTT CTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(89): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00323.hp1 HG00639.hp2 HG00733.hp1 HG00738.hp2 HG00741.hp1 HG01081.hp2 HG01106.hp2 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01258.hp1 HG01346.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01884.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02015.hp2 HG02132.hp1 HG02132.hp2 HG02165.hp1 HG02257.hp1 HG02293.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp2 HG02622.hp2 HG02809.hp1 HG02809.hp2 HG02896.hp1 HG03041.hp1 HG03490.hp2 HG03516.hp2 HG03540.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG04228.hp1 NA18906.hp1 NA18941.hp1 NA18942.hp2 NA18943.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp2 NA18966.hp2 NA18968.hp1 NA18973.hp2 NA18984.hp2 NA19000.hp2 NA19005.hp2 NA19010.hp2 NA19030.hp1 NA19043.hp1 NA19056.hp2 NA19067.hp2 NA19072.hp1 NA19086.hp2 NA19240.hp1 NA20300.hp1 NA20752.hp2 NA20805.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0006 a0008 a0013 a0015	a0001c0001 a0001c0003 a0001c0009 others(9): Show a0001c0001 a0001c0003 a0001c0009 a0001c0018 a0001c0033 a0001c0034 a0002c0002 a0003c0004 a0006c0015 a0008c0031 a0013c0038 a0015c0023	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(23): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0022 a0001c0001t0024 a0001c0001t0029 a0001c0003t0002 a0001c0003t0003 a0001c0009t0028 a0001c0018t0002 a0001c0033t0002 a0001c0034t0023 a0002c0002t0002 a0002c0002t0003 a0002c0002t0005 a0002c0002t0007 a0002c0002t0008 a0002c0002t0017 a0002c0002t0019 a0003c0004t0007 a0006c0015t0003 a0008c0031t0017 a0013c0038t0002 a0015c0023t0002	a0001c0001t0002g0015 a0001c0001t0002g0035 a0001c0001t0002g0047 others(89): Show a0001c0001t0002g0015 a0001c0001t0002g0035 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0068 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0160 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0194 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0240 a0001c0001t0002g0296 a0001c0001t0003g0014 a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0023 a0001c0001t0003g0028 a0001c0001t0003g0030 a0001c0001t0003g0034 a0001c0001t0003g0095 a0001c0001t0003g0128 a0001c0001t0003g0129 a0001c0001t0003g0130 a0001c0001t0003g0133 a0001c0001t0003g0134 a0001c0001t0003g0137 a0001c0001t0003g0140 a0001c0001t0003g0141 a0001c0001t0003g0146 a0001c0001t0003g0215 a0001c0001t0003g0230 a0001c0001t0003g0291 a0001c0001t0005g0115 a0001c0001t0005g0277 a0001c0001t0005g0279 a0001c0001t0005g0281 a0001c0001t0005g0282 a0001c0001t0005g0283 a0001c0001t0005g0285 a0001c0001t0005g0289 a0001c0001t0005g0294 a0001c0001t0007g0006 a0001c0001t0008g0046 a0001c0001t0008g0158 a0001c0001t0008g0250 a0001c0001t0022g0287 a0001c0001t0024g0031 a0001c0001t0029g0262 a0001c0003t0002g0193 a0001c0003t0003g0196 a0001c0009t0028g0107 a0001c0018t0002g0059 a0001c0033t0002g0299 a0001c0034t0023g0016 a0002c0002t0002g0057 a0002c0002t0002g0077 a0002c0002t0002g0273 a0002c0002t0002g0274 a0002c0002t0003g0022 a0002c0002t0003g0145 a0002c0002t0003g0148 a0002c0002t0005g0290 a0002c0002t0007g0166 a0002c0002t0007g0233 a0002c0002t0007g0288 a0002c0002t0008g0064 a0002c0002t0008g0118 a0002c0002t0008g0119 a0002c0002t0008g0120 a0002c0002t0008g0153 a0002c0002t0017g0010 a0002c0002t0019g0091 a0002c0002t0019g0167 a0003c0004t0007g0320 a0003c0004t0007g0321 a0003c0004t0007g0322 a0003c0004t0007g0324 a0006c0015t0003g0239 a0008c0031t0017g0316 a0013c0038t0002g0173 a0015c0023t0002g0180	92	326	0.2822	5	c.232 others(22): Show c.2325+305_2325+306insTTTTT	ECT2L	ENSG00000203734.13	transcript	ENST00000541398.7	protein_coding	19/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
ECT2L_chr6_138791087_138909070	138888317	C C	CTTTCT CTTTCT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01884.hp1 HG02015.hp2 others(13): Show HG01192.hp2 HG01884.hp1 HG02015.hp2 HG02257.hp1 HG02451.hp2 HG02559.hp1 HG02622.hp2 HG02809.hp2 HG03516.hp2 HG06807.hp2 NA18957.hp1 NA18966.hp2 NA18968.hp1 NA19005.hp2 NA19030.hp1 NA19056.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0008	a0001c0001 a0002c0002 a0003c0004 others(1): Show a0001c0001 a0002c0002 a0003c0004 a0008c0031	a0001c0001t0008 a0002c0002t0007 a0002c0002t0008 others(4): Show a0001c0001t0008 a0002c0002t0007 a0002c0002t0008 a0002c0002t0017 a0002c0002t0019 a0003c0004t0007 a0008c0031t0017	a0001c0001t0008g0158 a0002c0002t0007g0233 a0002c0002t0007g0247 others(13): Show a0001c0001t0008g0158 a0002c0002t0007g0233 a0002c0002t0007g0247 a0002c0002t0007g0288 a0002c0002t0008g0064 a0002c0002t0008g0118 a0002c0002t0008g0119 a0002c0002t0008g0120 a0002c0002t0008g0153 a0002c0002t0017g0010 a0002c0002t0019g0091 a0002c0002t0019g0167 a0003c0004t0007g0320 a0003c0004t0007g0322 a0003c0004t0007g0324 a0008c0031t0017g0316	16	326	0.0491	5	c.232 others(22): Show c.2326-623_2326-622insCTTTT	ECT2L	ENSG00000203734.13	transcript	ENST00000541398.7	protein_coding	19/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
ECT2L_chr6_138791087_138909070	138896091	A A	AGTTTT AGTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02027.hp1 HG02145.hp1 others(18): Show HG00738.hp1 HG02027.hp1 HG02145.hp1 HG02451.hp1 HG02647.hp1 HG02895.hp1 HG02896.hp1 HG03579.hp1 HG03704.hp2 NA18522.hp1 NA18962.hp1 NA18964.hp1 NA18974.hp2 NA18993.hp2 NA19004.hp1 NA19009.hp1 NA19030.hp2 NA19087.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2	a0001 a0005 a0006 others(5): Show a0001 a0005 a0006 a0008 a0009 a0014 a0023 a0024	a0001c0003 a0001c0033 a0005c0024 others(6): Show a0001c0003 a0001c0033 a0005c0024 a0006c0015 a0008c0013 a0009c0012 a0014c0037 a0023c0036 a0024c0020	a0001c0003t0002 a0001c0003t0003 a0001c0003t0005 others(10): Show a0001c0003t0002 a0001c0003t0003 a0001c0003t0005 a0001c0003t0013 a0001c0033t0002 a0005c0024t0005 a0006c0015t0003 a0008c0013t0002 a0008c0013t0005 a0009c0012t0003 a0014c0037t0002 a0023c0036t0002 a0024c0020t0002	a0001c0003t0002g0052 a0001c0003t0002g0075 a0001c0003t0002g0176 others(18): Show a0001c0003t0002g0052 a0001c0003t0002g0075 a0001c0003t0002g0176 a0001c0003t0002g0185 a0001c0003t0002g0187 a0001c0003t0002g0326 a0001c0003t0003g0132 a0001c0003t0003g0245 a0001c0003t0005g0275 a0001c0003t0005g0292 a0001c0003t0013g0222 a0001c0033t0002g0299 a0005c0024t0005g0276 a0006c0015t0003g0238 a0006c0015t0003g0239 a0008c0013t0002g0043 a0008c0013t0005g0269 a0009c0012t0003g0021 a0014c0037t0002g0036 a0023c0036t0002g0305 a0024c0020t0002g0315	21	326	0.0644	5	c.241 others(24): Show c.2415-4857_2415-4856insGTTTT	ECT2L	ENSG00000203734.13	transcript	ENST00000541398.7	protein_coding	20/21			chr6	TogoVar
EDARADD_chr1_236389286_236489930	236429544	A A	ATTTTT ATTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01975.hp2 HG02027.hp2 others(5): Show HG00423.hp1 HG01975.hp2 HG02027.hp2 NA18939.hp1 NA18953.hp2 NA19009.hp2 NA19054.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0001t0001 a0001c0001t0002 a0001c0003t0001	a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0094 others(5): Show a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0002g0096 a0001c0003t0001g0037	8	294	0.0272	5	c.219 others(22): Show c.219+2102_219+2106dupTTTTT	EDARADD	ENSG00000186197.15	transcript	ENST00000334232.9	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr1	TogoVar

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