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
ELMO1_chr7_36847906_37453864	37329990	AGTACAAC others(7): Show AGTACAACTAACCAC	A A	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	92	0.0109	-14	c.78+ others(31): Show c.78+12609_78+12622delGTGGTTAGTTGTAC	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	2/21			chr7	TogoVar
ELMO1_chr7_36847906_37453864	37447714	CCACACAC others(7): Show CCACACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0020 a0001c0003t0002g0020	1	92	0.0109	-14	c.-74 others(29): Show c.-74+947_-74+960delTGTGTGTGTGTGTG	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	1/21			chr7	TogoVar
ELMO2_chr20_46361050_46411615	46369959	GGGGTGTG others(7): Show GGGGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02886.hp1 HG02896.hp2 others(6): Show HG01884.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp2 HG03139.hp1 HG03209.hp1 HG03579.hp1 NA19043.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0005 a0001c0001t0005g0021 a0001c0001t0005g0137 others(2): Show a0001c0001t0005g0005 a0001c0001t0005g0021 a0001c0001t0005g0137 a0001c0001t0005g0139 a0001c0001t0005g0140	9	312	0.0289	-14	c.188 others(31): Show c.1884+470_1884+483delACACACACACACCC	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding	20/21			chr20	TogoVar
ELMO2_chr20_46361050_46411615	46369961	GGTGTGTG others(7): Show GGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00673.hp1 HG00735.hp2 others(48): Show HG00544.hp2 HG00673.hp1 HG00735.hp2 HG01123.hp1 HG02015.hp1 HG02056.hp1 HG02071.hp2 HG02109.hp1 HG02135.hp2 HG02155.hp2 HG02698.hp1 HG02965.hp2 HG03471.hp2 HG03927.hp2 HG04204.hp1 NA18522.hp2 NA18942.hp2 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18947.hp2 NA18950.hp1 NA18952.hp2 NA18955.hp1 NA18956.hp2 NA18957.hp1 NA18962.hp1 NA18968.hp2 NA18969.hp1 NA18972.hp2 NA18973.hp2 NA18978.hp1 NA18982.hp1 NA18989.hp2 NA18991.hp1 NA18994.hp1 NA18998.hp1 NA19001.hp1 NA19003.hp2 NA19010.hp1 NA19012.hp1 NA19030.hp1 NA19057.hp2 NA19060.hp1 NA19066.hp2 NA19067.hp1 NA19068.hp2 NA19078.hp2 NA19080.hp1 NA19088.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 others(1): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011	a0001c0001t0002g0001 a0001c0001t0002g0013 a0001c0001t0002g0014 others(31): Show a0001c0001t0002g0001 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0027 a0001c0001t0002g0159 a0001c0001t0002g0163 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0169 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0007g0105 a0001c0001t0008g0168 a0001c0001t0008g0170 a0001c0001t0011g0189	51	312	0.1635	-14	c.188 others(31): Show c.1884+468_1884+481delACACACACACACAC	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding	20/21			chr20	TogoVar
ELMOD1_chr11_107586147_107671779	107590332	TTCTCTCT others(7): Show TTCTCTCTCTCTCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG01123.hp1 HG01934.hp1 others(17): Show HG00544.hp2 HG01123.hp1 HG01934.hp1 HG02015.hp1 HG02129.hp1 HG02135.hp2 HG02148.hp2 HG02257.hp1 HG02572.hp1 HG02809.hp1 HG02976.hp1 NA18943.hp1 NA18959.hp2 NA18969.hp2 NA18985.hp1 NA18985.hp2 NA18992.hp1 NA19007.hp2 NA19070.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0008 a0001c0001t0009 others(5): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0009 a0001c0001t0026 a0001c0002t0002 a0001c0002t0004 a0001c0002t0006 a0001c0002t0007	a0001c0001t0001g0216 a0001c0001t0001g0219 a0001c0001t0001g0228 others(17): Show a0001c0001t0001g0216 a0001c0001t0001g0219 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0238 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0008g0284 a0001c0001t0009g0247 a0001c0001t0009g0248 a0001c0001t0026g0234 a0001c0002t0002g0286 a0001c0002t0004g0007 a0001c0002t0004g0249 a0001c0002t0006g0257 a0001c0002t0007g0258	20	342	0.0585	-14	c.-11 others(25): Show c.-1162_-1149delTCTCTCTCTCTCTC	ELMOD1	ENSG00000110675.13	transcript	ENST00000265840.12	protein_coding		814		chr11	TogoVar
ELMOD1_chr11_107586147_107671779	107639832	TGAGTGGA others(7): Show TGAGTGGATTCCTTA	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0273 a0001c0002t0004g0273	1	342	0.0029	-14	c.420 others(31): Show c.420+4072_420+4085delGGATTCCTTAGAGT	ELMOD1	ENSG00000110675.13	transcript	ENST00000265840.12	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
ELOA_chr1_23738471_23767059	23758247	ATTTATTT others(7): Show ATTTATTTATTTATT	A A	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0010 a0003c0011t0010	a0003c0011t0010g0051 a0003c0011t0010g0051	1	400	0.0025	-14	c.225 others(33): Show c.2257+1126_2257+1139delATTTATTTATTTTT	ELOA	ENSG00000011007.13	transcript	ENST00000613537.5	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
ELOA_chr1_23738471_23767059	23758251	ATTTATTT others(7): Show ATTTATTTATTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	400	0.0025	-14	c.225 others(33): Show c.2257+1130_2257+1143delATTTATTTTTTTTT	ELOA	ENSG00000011007.13	transcript	ENST00000613537.5	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
ELOA_chr1_23738471_23767059	23765206	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG01175.hp1 HG02622.hp1 others(2): Show HG00735.hp2 HG01175.hp1 HG02622.hp1 HG03195.hp1 NA18986.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0001c0005 a0003c0004 a0001c0002 a0001c0005 a0003c0004	a0001c0002t0001 a0001c0005t0001 a0003c0004t0007 a0001c0002t0001 a0001c0005t0001 a0003c0004t0007	a0001c0002t0001g0244 a0001c0005t0001g0250 a0003c0004t0007g0057 others(2): Show a0001c0002t0001g0244 a0001c0005t0001g0250 a0003c0004t0007g0057 a0003c0004t0007g0058 a0003c0004t0007g0059	5	400	0.0125	-14	c.56 others(25): Show c.5634_*5647delTTTTTTTTTTTTTT	ELOA	ENSG00000011007.13	transcript	ENST00000613537.5	protein_coding		3148		chr1	TogoVar
ELOF1_chr19_11548046_11564230	11553582	TACACACA others(7): Show TACACACACACACAC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00408.hp1 HG00558.hp2 HG02040.hp2 others(15): Show HG00408.hp1 HG00558.hp2 HG02040.hp2 HG02056.hp2 HG02165.hp1 HG03516.hp2 HG04199.hp1 NA18950.hp2 NA18979.hp2 NA18981.hp1 NA18991.hp2 NA18993.hp2 NA19005.hp2 NA19010.hp2 NA19060.hp1 NA19080.hp2 NA19081.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0004 a0001c0001t0006g0107 a0001c0001t0006g0004 a0001c0001t0006g0107	18	412	0.0437	-14	c.15 others(23): Show c.150_*163delGTGTGTGTGTGTGT	ELOF1	ENSG00000130165.11	transcript	ENST00000252445.8	protein_coding	4/4	150		chr19	TogoVar
ELOVL2_chr6_10975759_11049305	10978299	ATATATAT others(7): Show ATATATATTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02451.hp1 HG02257.hp2 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0006 a0001c0007t0018 a0001c0001t0006 a0001c0007t0018	a0001c0001t0006g0210 a0001c0007t0018g0209 a0001c0001t0006g0210 a0001c0007t0018g0209	2	380	0.0053	-14	c.54 others(25): Show c.5468_*5481delAAAAAAAATATATA	ELOVL2	ENSG00000197977.4	transcript	ENST00000354666.4	protein_coding		2459		chr6	TogoVar
ELOVL2_chr6_10975759_11049305	10992800	CAAAAAAA others(7): Show CAAAAAAAAACAAAA	C C	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18998.hp1 NA18949.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0096 a0001c0001t0011g0110 a0001c0001t0011g0096 a0001c0001t0011g0110	2	380	0.0053	-14	c.505 others(31): Show c.505+2193_505+2206delTTTTGTTTTTTTTT	ELOVL2	ENSG00000197977.4	transcript	ENST00000354666.4	protein_coding	5/7			chr6	TogoVar
ELOVL2_chr6_10975759_11049305	10993857	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02976.hp2 HG03195.hp2 others(4): Show HG01891.hp1 HG02976.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03540.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0004 a0001c0001t0010g0013 a0001c0001t0010g0029 others(1): Show a0001c0001t0010g0004 a0001c0001t0010g0013 a0001c0001t0010g0029 a0001c0001t0010g0208	7	380	0.0184	-14	c.505 others(31): Show c.505+1136_505+1149delAAAAAAAAAAAAAA	ELOVL2	ENSG00000197977.4	transcript	ENST00000354666.4	protein_coding	5/7			chr6	TogoVar
ELOVL5_chr6_53262404_53353950	53306305	AGGGGAGA others(7): Show AGGGGAGAGGGAGAG	A A	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0273 a0001c0001t0001g0273	1	320	0.0031	-14	c.-8- others(31): Show c.-8-10612_-8-10599delCTCTCCCTCTCCCC	ELOVL5	ENSG00000012660.14	transcript	ENST00000304434.11	protein_coding	1/7			chr6	TogoVar
ELOVL5_chr6_53262404_53353950	53319270	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02647.hp1 HG03579.hp1 others(1): Show HG02280.hp2 HG02647.hp1 HG03579.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0165 a0001c0001t0001g0197 a0001c0001t0001g0010 a0001c0001t0001g0165 a0001c0001t0001g0197	4	320	0.0125	-14	c.-8- others(31): Show c.-8-23577_-8-23564delTTTTTTTTTTTTTT	ELOVL5	ENSG00000012660.14	transcript	ENST00000304434.11	protein_coding	1/7			chr6	TogoVar
ELOVL6_chr4_110040846_110203615	110044286	AAAAAAAA others(7): Show AAAAAAAAAAAAAAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00438.hp1 HG00597.hp1 others(86): Show HG00140.hp2 HG00438.hp1 HG00597.hp1 HG00609.hp1 HG00639.hp1 HG00735.hp2 HG01069.hp2 HG01106.hp1 HG01123.hp1 HG01168.hp2 HG01175.hp1 HG01358.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01891.hp1 HG01934.hp1 HG01975.hp1 HG02056.hp2 HG02071.hp2 HG02083.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02300.hp1 HG02523.hp1 HG02523.hp2 HG02622.hp1 HG02717.hp2 HG02818.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG03195.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03540.hp2 HG03669.hp2 HG03831.hp1 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG06807.hp2 NA18612.hp2 NA18939.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18945.hp2 NA18951.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18961.hp2 NA18963.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18971.hp1 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18988.hp1 NA18999.hp1 NA19000.hp2 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19011.hp1 NA19012.hp1 NA19043.hp2 NA19067.hp2 NA19077.hp1 NA19080.hp1 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA20129.hp1 NA20300.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(18): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0016 a0001c0001t0018 a0001c0001t0022 a0001c0001t0045 a0001c0001t0046 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0060 a0001c0001t0066 a0001c0001t0067 a0001c0001t0071 a0001c0001t0079 a0001c0001t0080	a0001c0001t0002g0032 a0001c0001t0002g0061 a0001c0001t0002g0064 others(86): Show a0001c0001t0002g0032 a0001c0001t0002g0061 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0076 a0001c0001t0002g0136 a0001c0001t0002g0140 a0001c0001t0002g0142 a0001c0001t0002g0159 a0001c0001t0002g0164 a0001c0001t0002g0172 a0001c0001t0002g0178 a0001c0001t0002g0180 a0001c0001t0002g0189 a0001c0001t0002g0236 a0001c0001t0002g0240 a0001c0001t0002g0244 a0001c0001t0002g0272 a0001c0001t0002g0286 a0001c0001t0002g0288 a0001c0001t0002g0290 a0001c0001t0002g0295 a0001c0001t0002g0298 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0314 a0001c0001t0002g0332 a0001c0001t0002g0334 a0001c0001t0003g0198 a0001c0001t0005g0005 a0001c0001t0005g0062 a0001c0001t0005g0086 a0001c0001t0005g0091 a0001c0001t0005g0092 a0001c0001t0005g0123 a0001c0001t0005g0134 a0001c0001t0005g0162 a0001c0001t0005g0192 a0001c0001t0005g0197 a0001c0001t0005g0201 a0001c0001t0005g0202 a0001c0001t0005g0215 a0001c0001t0005g0225 a0001c0001t0005g0285 a0001c0001t0005g0312 a0001c0001t0005g0323 a0001c0001t0005g0325 a0001c0001t0008g0009 a0001c0001t0008g0028 a0001c0001t0008g0029 a0001c0001t0008g0030 a0001c0001t0008g0082 a0001c0001t0008g0219 a0001c0001t0008g0235 a0001c0001t0010g0317 a0001c0001t0011g0004 a0001c0001t0011g0045 a0001c0001t0011g0047 a0001c0001t0011g0151 a0001c0001t0011g0152 a0001c0001t0012g0054 a0001c0001t0012g0085 a0001c0001t0012g0087 a0001c0001t0012g0184 a0001c0001t0012g0185 a0001c0001t0016g0098 a0001c0001t0016g0112 a0001c0001t0016g0114 a0001c0001t0016g0177 a0001c0001t0018g0040 a0001c0001t0018g0041 a0001c0001t0018g0042 a0001c0001t0018g0153 a0001c0001t0022g0017 a0001c0001t0022g0105 a0001c0001t0022g0106 a0001c0001t0045g0204 a0001c0001t0046g0006 a0001c0001t0052g0191 a0001c0001t0053g0237 a0001c0001t0054g0284 a0001c0001t0060g0311 a0001c0001t0066g0306 a0001c0001t0067g0055 a0001c0001t0071g0075 a0001c0001t0079g0289 a0001c0001t0080g0104	89	338	0.2633	-14	c.70 others(25): Show c.7038_*7051delGTTTTTTTTTTTTT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding		1559		chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110083990	TATATAAC others(7): Show TATATAACATATGCC	T T	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01069.hp2 HG01070.hp1 others(16): Show HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01106.hp1 HG02004.hp2 HG02083.hp2 HG02258.hp2 HG03017.hp2 HG03239.hp2 HG03491.hp2 HG03492.hp2 HG03942.hp1 HG04199.hp1 NA18945.hp2 NA18968.hp1 NA18990.hp1 NA19077.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0041	a0001c0001t0001g0027 a0001c0001t0001g0035 a0001c0001t0001g0121 others(16): Show a0001c0001t0001g0027 a0001c0001t0001g0035 a0001c0001t0001g0121 a0001c0001t0001g0129 a0001c0001t0001g0208 a0001c0001t0001g0260 a0001c0001t0001g0273 a0001c0001t0001g0277 a0001c0001t0002g0136 a0001c0001t0002g0334 a0001c0001t0004g0209 a0001c0001t0004g0336 a0001c0001t0005g0086 a0001c0001t0005g0123 a0001c0001t0005g0162 a0001c0001t0005g0192 a0001c0001t0005g0201 a0001c0001t0005g0285 a0001c0001t0041g0119	19	338	0.0562	-14	c.221 others(33): Show c.221+21493_221+21506delGGCATATGTTATAT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110084525	TACACTTA others(7): Show TACACTTACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03139.hp2 HG02451.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0158 a0001c0001t0007g0291 a0001c0001t0007g0158 a0001c0001t0007g0291	2	338	0.0059	-14	c.221 others(33): Show c.221+20958_221+20971delGTGTGTGTAAGTGT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110084531	TACACACA others(7): Show TACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02818.hp2 HG02922.hp2 others(8): Show HG02622.hp1 HG02818.hp2 HG02922.hp2 HG02965.hp1 HG03041.hp1 HG03209.hp2 HG03471.hp1 NA18522.hp1 NA19030.hp2 NA19043.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0015 others(5): Show a0001c0001t0001 a0001c0001t0011 a0001c0001t0015 a0001c0001t0021 a0001c0001t0022 a0001c0001t0050 a0001c0001t0051 a0001c0001t0078	a0001c0001t0001g0226 a0001c0001t0011g0045 a0001c0001t0011g0047 others(8): Show a0001c0001t0001g0226 a0001c0001t0011g0045 a0001c0001t0011g0047 a0001c0001t0011g0151 a0001c0001t0011g0152 a0001c0001t0015g0227 a0001c0001t0021g0069 a0001c0001t0022g0017 a0001c0001t0050g0039 a0001c0001t0051g0143 a0001c0001t0078g0099	11	338	0.0325	-14	c.221 others(33): Show c.221+20952_221+20965delGTGTGTGTGTGTGT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110084582	ATATATAT others(7): Show ATATATATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02723.hp2 HG02965.hp2 others(5): Show HG00741.hp1 HG02723.hp2 HG02965.hp2 HG03239.hp2 HG03453.hp1 HG03486.hp1 HG03942.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0015	a0001c0001t0001g0129 a0001c0001t0001g0251 a0001c0001t0004g0336 others(5): Show a0001c0001t0001g0129 a0001c0001t0001g0251 a0001c0001t0004g0336 a0001c0001t0005g0086 a0001c0001t0005g0162 a0001c0001t0015g0037 a0001c0001t0015g0148 a0001c0001t0015g0149	8	338	0.0237	-14	c.221 others(33): Show c.221+20901_221+20914delAAAAAAAATATATA	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110084584	ATATATTT others(7): Show ATATATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01070.hp1 HG01071.hp2 others(8): Show HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01106.hp1 HG03017.hp2 HG03491.hp2 HG03492.hp2 HG04199.hp1 NA18612.hp2 NA18968.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005	a0001c0001t0001g0027 a0001c0001t0001g0035 a0001c0001t0001g0208 others(8): Show a0001c0001t0001g0027 a0001c0001t0001g0035 a0001c0001t0001g0208 a0001c0001t0001g0273 a0001c0001t0001g0277 a0001c0001t0002g0136 a0001c0001t0002g0334 a0001c0001t0004g0209 a0001c0001t0005g0005 a0001c0001t0005g0123 a0001c0001t0005g0192	11	338	0.0325	-14	c.221 others(33): Show c.221+20899_221+20912delAAAAAAAAAATATA	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110084586	ATATTTTT others(7): Show ATATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02280.hp2 HG00735.hp1 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0035 a0001c0001t0004 a0001c0001t0035	a0001c0001t0004g0331 a0001c0001t0035g0329 a0001c0001t0004g0331 a0001c0001t0035g0329	2	338	0.0059	-14	c.221 others(33): Show c.221+20897_221+20910delAAAAAAAAAAAATA	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110094431	ATATATAT others(7): Show ATATATATATATAAT	A A	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18968.hp1 NA19077.hp1 NA18612.hp2 NA18968.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0005 a0001c0001t0005g0123 a0001c0001t0005g0192 a0001c0001t0005g0005 a0001c0001t0005g0123 a0001c0001t0005g0192	3	338	0.0089	-14	c.221 others(33): Show c.221+11052_221+11065delATTATATATATATA	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110120776	GTTCTTTT others(7): Show GTTCTTTTCTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0001 a0001c0001t0036g0001	1	338	0.0030	-14	c.90- others(31): Show c.90-15162_90-15149delAAAAAAGAAAAGAA	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110171679	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	338	0.0030	-14	c.89+ others(31): Show c.89+26554_89+26567delAAAAAAAAAAAAAA	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3			chr4	TogoVar
ELOVL7_chr5_60746791_60849269	60802061	CATATATA others(7): Show CATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01261.hp2 HG02683.hp2 others(2): Show HG00639.hp2 HG01261.hp2 HG02683.hp2 HG03017.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0002 a0001c0001t0010	a0001c0001t0002g0230 a0001c0001t0002g0239 a0001c0001t0002g0240 others(2): Show a0001c0001t0002g0230 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0242 a0001c0001t0010g0251	5	258	0.0194	-14	c.-85 others(31): Show c.-85-2845_-85-2832delATATATATATATAT	ELOVL7	ENSG00000164181.14	transcript	ENST00000508821.6	protein_coding	1/8			chr5	TogoVar
ELOVL7_chr5_60746791_60849269	60802105	TATATATA others(7): Show TATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01952.hp1 HG02257.hp2 others(3): Show HG01192.hp2 HG01952.hp1 HG02257.hp2 HG02523.hp2 HG04228.hp1 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 others(1): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0017	a0001c0001t0002g0233 a0001c0001t0002g0238 a0001c0001t0005g0017 others(3): Show a0001c0001t0002g0233 a0001c0001t0002g0238 a0001c0001t0005g0017 a0001c0001t0005g0018 a0001c0001t0007g0034 a0001c0001t0017g0035	6	258	0.0233	-14	c.-85 others(31): Show c.-85-2889_-85-2876delGTATATATATATAT	ELOVL7	ENSG00000164181.14	transcript	ENST00000508821.6	protein_coding	1/8			chr5	TogoVar
ELP1_chr9_108862517_108939124	108872885	CATAACTA others(7): Show CATAACTACAACTAT	C C	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0009 a0007c0010t0009	a0007c0010t0009g0368 a0007c0010t0009g0368	1	416	0.0024	-14	c.393 others(33): Show c.3931+1996_3931+2009delATAGTTGTAGTTAT	ELP1	ENSG00000070061.16	transcript	ENST00000374647.10	protein_coding	36/36			chr9	TogoVar
ELP1_chr9_108862517_108939124	108913551	CGCATTAT others(7): Show CGCATTATTACAACA	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0017 a0017	a0017c0026 a0017c0026	a0017c0026t0009 a0017c0026t0009	a0017c0026t0009g0362 a0017c0026t0009g0362	1	416	0.0024	-14	c.959 others(31): Show c.959-1071_959-1058delTGTTGTAATAATGC	ELP1	ENSG00000070061.16	transcript	ENST00000374647.10	protein_coding	10/36			chr9	TogoVar
ELP2_chr18_36124899_36185557	36166319	GTTTTTTT others(7): Show GTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02559.hp2 HG00558.hp1 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0050 a0001c0001t0005 a0001c0001t0050	a0001c0001t0005g0025 a0001c0001t0050g0185 a0001c0001t0005g0025 a0001c0001t0050g0185	2	378	0.0053	-14	c.195 others(31): Show c.1955-767_1955-754delTTTTTTTTTTTTTT	ELP2	ENSG00000134759.14	transcript	ENST00000358232.11	protein_coding	18/21		INFO_REALIGN_3_PRIME	chr18	TogoVar
ELP3_chr8_28088139_28196153	28106539	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0144 a0001c0002t0011g0144	1	398	0.0025	-14	c.259 others(29): Show c.259-159_259-146delAAAAAAAAAAAAAA	ELP3	ENSG00000134014.18	transcript	ENST00000256398.13	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
ELP3_chr8_28088139_28196153	28119572	TTATATAT others(7): Show TTATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00408.hp2 others(43): Show HG00099.hp1 HG00280.hp1 HG00408.hp2 HG00621.hp2 HG00741.hp2 HG01167.hp2 HG01169.hp2 HG01255.hp1 HG01346.hp1 HG01346.hp2 HG01516.hp1 HG01517.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02055.hp2 HG02056.hp1 HG02451.hp2 HG02717.hp1 HG02738.hp2 HG02976.hp2 HG03017.hp1 HG03209.hp1 HG03471.hp2 HG03491.hp2 HG03492.hp2 HG03688.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp1 NA18952.hp1 NA18956.hp2 NA18966.hp1 NA18978.hp1 NA18986.hp1 NA18987.hp1 NA18993.hp1 NA18995.hp2 NA19058.hp2 NA19074.hp1 NA19077.hp1 NA19080.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014	a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0208 others(40): Show a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0002g0008 a0001c0001t0002g0010 a0001c0001t0002g0045 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0057 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0089 a0001c0001t0002g0094 a0001c0001t0002g0097 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0230 a0001c0001t0003g0238 a0001c0001t0003g0332 a0001c0001t0003g0333 a0001c0001t0003g0339 a0001c0001t0003g0340 a0001c0001t0003g0365 a0001c0001t0007g0152 a0001c0001t0007g0154 a0001c0001t0010g0169 a0001c0001t0012g0358 a0001c0001t0014g0209	46	398	0.1156	-14	c.617 others(31): Show c.617+6443_617+6456delATATATATATATAT	ELP3	ENSG00000134014.18	transcript	ENST00000256398.13	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
ELP4_chr11_31504767_31795324	31599516	CACACACA others(7): Show CACACACAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	270	0.0037	-14	c.514 others(31): Show c.514-4250_514-4237delCACACAAAAAAAAA	ELP4	ENSG00000109911.19	transcript	ENST00000640961.2	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr11	TogoVar
ELP4_chr11_31504767_31795324	31678529	GTGTGTGT others(7): Show GTGTGTGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG03453.hp1 NA18971.hp2 NA19004.hp2 HG03453.hp1 NA18971.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0019 a0001c0001t0002 a0001c0001t0019	a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0019g0084 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0019g0084	3	270	0.0111	-14	c.114 others(35): Show c.1143+28310_1143+28323delGTGTGTGTGTGTAT	ELP4	ENSG00000109911.19	transcript	ENST00000640961.2	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr11	TogoVar
ELP4_chr11_31504767_31795324	31678531	GTGTGTGT others(7): Show GTGTGTGTGTGTATA	G G	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	270	0.0037	-14	c.114 others(35): Show c.1143+28315_1143+28328delTGTGTGTATATGTG	ELP4	ENSG00000109911.19	transcript	ENST00000640961.2	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr11	TogoVar
ELP4_chr11_31504767_31795324	31794420	CCACACAC others(7): Show CCACACACACACACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG01884.hp2 HG02145.hp1 others(5): Show HG00642.hp1 HG01884.hp2 HG02145.hp1 HG02486.hp1 HG02717.hp1 HG03225.hp1 HG04204.hp2 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0018 a0001c0001t0030 others(4): Show a0001c0001t0002 a0001c0001t0018 a0001c0001t0030 a0001c0001t0058 a0001c0001t0064 a0001c0001t0075 a0001c0001t0083	a0001c0001t0002g0167 a0001c0001t0018g0205 a0001c0001t0030g0232 others(5): Show a0001c0001t0002g0167 a0001c0001t0018g0205 a0001c0001t0030g0232 a0001c0001t0030g0247 a0001c0001t0058g0010 a0001c0001t0064g0239 a0001c0001t0075g0217 a0001c0001t0083g0105	8	270	0.0296	-14	c.10 others(27): Show c.10897_*10910delCACACACACACACA	ELP4	ENSG00000109911.19	transcript	ENST00000640961.2	protein_coding		4097		chr11	TogoVar
ELP6_chr3_47490640_47518712	47517717	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	374	0.0027	-14	c.-41 others(25): Show c.-4141_-4128delAAAAAAAAAAAAAA	ELP6	ENSG00000163832.16	transcript	ENST00000296149.9	protein_coding		4006		chr3	TogoVar
ELSPBP1_chr19_47989632_48030154	48016454	TCTTTTCT others(7): Show TCTTTTCTTTCCTTC	T T	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0233 a0001c0001t0002g0233	1	388	0.0026	-14	c.355 others(29): Show c.355+416_355+429delCTTTTCTTTCCTTC	ELSPBP1	ENSG00000169393.10	transcript	ENST00000339841.7	protein_coding	4/6			chr19	TogoVar
ELSPBP1_chr19_47989632_48030154	48016455	CTTTTCTT others(7): Show CTTTTCTTTCCTTCT	C C	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0260 a0001c0001t0001g0260	1	388	0.0026	-14	c.355 others(29): Show c.355+419_355+432delTTCTTTCCTTCTTT	ELSPBP1	ENSG00000169393.10	transcript	ENST00000339841.7	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
ELSPBP1_chr19_47989632_48030154	48023284	GGAGGAAA others(7): Show GGAGGAAAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0032 a0004c0004t0001g0032	1	388	0.0026	-14	c.7+ others(27): Show c.7+951_*7+964delGAGGAAAGGAAGGA	ELSPBP1	ENSG00000169393.10	transcript	ENST00000339841.7	protein_coding	6/6			chr19	TogoVar
EMB_chr5_50391192_50446288	50429968	TTCTCTCT others(7): Show TTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp2 HG00544.hp2 others(74): Show HG00280.hp1 HG00438.hp2 HG00544.hp2 HG00597.hp1 HG00609.hp2 HG00639.hp2 HG00735.hp1 HG00741.hp1 HG01070.hp1 HG01071.hp1 HG01243.hp2 HG01256.hp2 HG01358.hp2 HG01496.hp1 HG01496.hp2 HG01952.hp2 HG02027.hp1 HG02055.hp2 HG02074.hp1 HG02129.hp1 HG02155.hp1 HG02258.hp2 HG02293.hp2 HG02486.hp2 HG02647.hp1 HG02723.hp1 HG02738.hp1 HG03041.hp2 HG03209.hp1 HG03239.hp2 HG03669.hp1 HG03710.hp1 HG03831.hp2 HG03927.hp1 HG04115.hp2 NA18522.hp1 NA18612.hp1 NA18939.hp1 NA18940.hp2 NA18942.hp1 NA18943.hp2 NA18949.hp2 NA18951.hp2 NA18953.hp1 NA18955.hp1 NA18957.hp1 NA18959.hp1 NA18961.hp2 NA18965.hp2 NA18971.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18980.hp1 NA18981.hp2 NA18989.hp2 NA18993.hp2 NA18994.hp2 NA18999.hp1 NA19000.hp1 NA19003.hp1 NA19005.hp2 NA19006.hp2 NA19011.hp1 NA19043.hp1 NA19058.hp1 NA19060.hp2 NA19065.hp1 NA19070.hp2 NA19075.hp1 NA19079.hp2 NA19082.hp1 NA19084.hp2 NA19085.hp2 NA19087.hp2 NA20752.hp1 NA20905.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0003 a0004c0009 a0001c0001 a0002c0003 a0004c0009	a0001c0001t0002 a0001c0001t0007 a0001c0001t0009 others(6): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0009 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0002c0003t0002 a0004c0009t0002	a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0006 others(58): Show a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0017 a0001c0001t0002g0055 a0001c0001t0002g0060 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0070 a0001c0001t0002g0072 a0001c0001t0002g0075 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0096 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0111 a0001c0001t0002g0114 a0001c0001t0002g0126 a0001c0001t0007g0018 a0001c0001t0007g0088 a0001c0001t0007g0110 a0001c0001t0007g0123 a0001c0001t0007g0124 a0001c0001t0007g0125 a0001c0001t0007g0127 a0001c0001t0007g0165 a0001c0001t0007g0166 a0001c0001t0007g0167 a0001c0001t0007g0168 a0001c0001t0009g0051 a0001c0001t0009g0054 a0001c0001t0009g0071 a0001c0001t0009g0089 a0001c0001t0012g0052 a0001c0001t0012g0053 a0001c0001t0013g0076 a0001c0001t0013g0132 a0001c0001t0014g0073 a0001c0001t0014g0079 a0001c0001t0016g0074 a0002c0003t0002g0086 a0002c0003t0002g0087 a0004c0009t0002g0069	77	346	0.2225	-14	c.113 others(31): Show c.113-1755_113-1742delGAGAGAGAGAGAGA	EMB	ENSG00000170571.12	transcript	ENST00000303221.10	protein_coding	1/8			chr5	TogoVar
EMB_chr5_50391192_50446288	50445252	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG01169.hp1 NA19030.hp2 HG01167.hp1 HG01169.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0003 a0001c0004t0004 a0001c0001t0003 a0001c0004t0004	a0001c0001t0003g0161 a0001c0004t0004g0035 a0001c0001t0003g0161 a0001c0004t0004g0035	3	346	0.0087	-14	c.-41 others(25): Show c.-4115_-4102delTTTTTTTTTTTTTT	EMB	ENSG00000170571.12	transcript	ENST00000303221.10	protein_coding		3965		chr5	TogoVar
EMC10_chr19_50471507_50495871	50492039	GGAGAGAG others(7): Show GGAGAGAGAGAGAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00408.hp1 others(86): Show HG00099.hp1 HG00280.hp1 HG00408.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00597.hp1 HG00597.hp2 HG00735.hp2 HG01074.hp2 HG01123.hp1 HG01167.hp2 HG01261.hp1 HG01358.hp2 HG01433.hp2 HG01517.hp1 HG01928.hp2 HG01934.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02071.hp1 HG02074.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02155.hp2 HG02257.hp2 HG02273.hp2 HG02293.hp2 HG02300.hp1 HG02559.hp2 HG02683.hp1 HG02895.hp1 HG02896.hp1 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03490.hp2 HG03669.hp2 HG03688.hp2 HG03927.hp2 HG03942.hp1 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04228.hp1 NA18906.hp1 NA18939.hp1 NA18945.hp2 NA18951.hp2 NA18952.hp2 NA18959.hp1 NA18964.hp2 NA18966.hp2 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18977.hp2 NA18982.hp2 NA18986.hp2 NA18989.hp1 NA18994.hp1 NA18995.hp2 NA18999.hp2 NA19002.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19007.hp2 NA19012.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19066.hp1 NA19077.hp1 NA19079.hp1 NA19080.hp2 NA19085.hp2 NA19240.hp1 NA20805.hp2 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0008 a0001c0001 a0001c0002 a0003c0008	a0001c0001t0001 a0001c0001t0005 a0001c0001t0015 others(40): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0015 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0076 a0001c0001t0078 a0001c0001t0129 a0001c0001t0131 a0001c0001t0134 a0001c0001t0135 a0001c0001t0136 a0001c0001t0137 a0001c0001t0138 a0001c0001t0139 a0001c0001t0140 a0001c0001t0141 a0001c0001t0142 a0001c0001t0143 a0001c0001t0144 a0001c0001t0145 a0001c0001t0146 a0001c0001t0147 a0001c0001t0162 a0001c0002t0001 a0001c0002t0038 a0001c0002t0062 a0001c0002t0074 a0001c0002t0075 a0001c0002t0079 a0001c0002t0082 a0001c0002t0089 a0001c0002t0090 a0001c0002t0091 a0001c0002t0097 a0001c0002t0101 a0001c0002t0116 a0003c0008t0130	a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0025 others(47): Show a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0025 a0001c0001t0005g0002 a0001c0001t0005g0014 a0001c0001t0005g0024 a0001c0001t0005g0062 a0001c0001t0015g0002 a0001c0001t0028g0002 a0001c0001t0029g0002 a0001c0001t0030g0002 a0001c0001t0048g0002 a0001c0001t0048g0061 a0001c0001t0049g0002 a0001c0001t0050g0002 a0001c0001t0050g0063 a0001c0001t0051g0002 a0001c0001t0076g0002 a0001c0001t0078g0002 a0001c0001t0129g0002 a0001c0001t0131g0002 a0001c0001t0134g0002 a0001c0001t0135g0002 a0001c0001t0136g0002 a0001c0001t0137g0002 a0001c0001t0138g0002 a0001c0001t0139g0002 a0001c0001t0140g0002 a0001c0001t0141g0002 a0001c0001t0142g0002 a0001c0001t0143g0065 a0001c0001t0144g0002 a0001c0001t0145g0013 a0001c0001t0146g0024 a0001c0001t0147g0002 a0001c0001t0162g0002 a0001c0002t0001g0002 a0001c0002t0038g0004 a0001c0002t0062g0004 a0001c0002t0074g0027 a0001c0002t0075g0004 a0001c0002t0079g0016 a0001c0002t0082g0016 a0001c0002t0089g0043 a0001c0002t0090g0010 a0001c0002t0091g0010 a0001c0002t0097g0010 a0001c0002t0101g0010 a0001c0002t0116g0029 a0003c0008t0130g0040	89	352	0.2528	-14	c.97 others(25): Show c.9781_*9794delGAGAGAGAGAGAGA	EMC10	ENSG00000161671.17	transcript	ENST00000334976.11	protein_coding		1169		chr19	TogoVar
EMC1_chr1_19210660_19256524	19241876	ATCTTGTT others(7): Show ATCTTGTTCCTTCTC	A A	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG02071.hp2 HG02132.hp2 others(15): Show HG01168.hp1 HG02071.hp2 HG02132.hp2 HG04204.hp1 NA18940.hp1 NA18943.hp2 NA18944.hp2 NA18948.hp2 NA18974.hp2 NA18981.hp1 NA18982.hp2 NA18991.hp1 NA19007.hp2 NA19011.hp2 NA19054.hp2 NA19066.hp2 NA19077.hp2 NA19080.hp2	a0004 a0004	a0004c0005 a0004c0009 a0004c0022 a0004c0005 a0004c0009 a0004c0022	a0004c0005t0002 a0004c0005t0008 a0004c0005t0022 others(3): Show a0004c0005t0002 a0004c0005t0008 a0004c0005t0022 a0004c0005t0023 a0004c0009t0002 a0004c0022t0002	a0004c0005t0002g0019 a0004c0005t0002g0033 a0004c0005t0002g0083 others(12): Show a0004c0005t0002g0019 a0004c0005t0002g0033 a0004c0005t0002g0083 a0004c0005t0002g0176 a0004c0005t0002g0178 a0004c0005t0002g0179 a0004c0005t0002g0224 a0004c0005t0002g0241 a0004c0005t0008g0175 a0004c0005t0022g0177 a0004c0005t0023g0225 a0004c0009t0002g0034 a0004c0009t0002g0171 a0004c0009t0002g0226 a0004c0022t0002g0200	18	350	0.0514	-14	c.509 others(29): Show c.509+455_509+468delGAGAAGGAACAAGA	EMC1	ENSG00000127463.16	transcript	ENST00000477853.6	protein_coding	5/22			chr1	TogoVar
EMC3_chr3_9957682_9991841	9978145	TAAAAAAA others(7): Show TAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02818.hp1 HG02970.hp2 others(1): Show HG02615.hp2 HG02818.hp1 HG02970.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0038 others(1): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0038 a0001c0001t0063	a0001c0001t0001g0125 a0001c0001t0008g0280 a0001c0001t0038g0126 others(1): Show a0001c0001t0001g0125 a0001c0001t0008g0280 a0001c0001t0038g0126 a0001c0001t0063g0269	4	322	0.0124	-14	c.156 others(29): Show c.156-713_156-700delTTTTTTTTTTTTTT	EMC3	ENSG00000125037.13	transcript	ENST00000245046.7	protein_coding	1/7			chr3	TogoVar
EMCN_chr4_100390341_100523022	100414348	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG02717.hp2 others(3): Show HG01070.hp1 HG01071.hp1 HG02717.hp2 HG02970.hp2 HG02976.hp1 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0163 a0002c0002t0007g0164 a0002c0002t0007g0165 others(3): Show a0002c0002t0007g0163 a0002c0002t0007g0164 a0002c0002t0007g0165 a0002c0002t0007g0166 a0002c0002t0007g0167 a0002c0002t0007g0168	6	262	0.0229	-14	c.751 others(31): Show c.751+1536_751+1549delAAAAAAAAAAAAAA	EMCN	ENSG00000164035.10	transcript	ENST00000296420.9	protein_coding	10/11			chr4	TogoVar
EMCN_chr4_100390341_100523022	100459168	GCTCTCTC others(7): Show GCTCTCTCTCTCTCT	G G	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02486.hp2 HG04199.hp2 HG01099.hp1 HG02486.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0002 a0001c0001t0011	a0001c0001t0002g0230 a0001c0001t0002g0236 a0001c0001t0011g0114 a0001c0001t0002g0230 a0001c0001t0002g0236 a0001c0001t0011g0114	3	262	0.0115	-14	c.376 others(31): Show c.376+6241_376+6254delAGAGAGAGAGAGAG	EMCN	ENSG00000164035.10	transcript	ENST00000296420.9	protein_coding	4/11			chr4	TogoVar
EMID1_chr22_29200896_29264597	29250733	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00609.hp1 HG01346.hp1 others(40): Show HG00558.hp1 HG00609.hp1 HG01346.hp1 HG01891.hp2 HG02055.hp1 HG02080.hp1 HG02083.hp1 HG02280.hp2 HG02559.hp1 HG02559.hp2 HG02895.hp1 HG02897.hp1 HG03017.hp2 HG03225.hp1 HG03453.hp1 HG03486.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03927.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp2 NA18612.hp2 NA18939.hp2 NA18943.hp1 NA18943.hp2 NA18951.hp2 NA18952.hp1 NA18955.hp1 NA18963.hp1 NA18966.hp2 NA18971.hp1 NA18971.hp2 NA18979.hp2 NA18982.hp1 NA18983.hp2 NA18985.hp2 NA18993.hp2 NA18995.hp1 NA19066.hp1 NA19084.hp2 NA19087.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(6): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0002c0001t0001 a0002c0001t0002 a0002c0001t0003 a0002c0001t0009	a0001c0002t0001g0014 a0001c0002t0001g0059 a0001c0002t0001g0091 others(39): Show a0001c0002t0001g0014 a0001c0002t0001g0059 a0001c0002t0001g0091 a0001c0002t0001g0108 a0001c0002t0001g0143 a0001c0002t0001g0173 a0001c0002t0001g0175 a0001c0002t0001g0315 a0001c0002t0002g0012 a0001c0002t0002g0013 a0001c0002t0002g0017 a0001c0002t0002g0123 a0001c0002t0002g0183 a0001c0002t0002g0201 a0001c0002t0002g0206 a0001c0002t0002g0288 a0001c0002t0002g0289 a0001c0002t0002g0332 a0001c0002t0003g0184 a0001c0002t0003g0259 a0001c0002t0004g0025 a0001c0002t0006g0020 a0002c0001t0001g0070 a0002c0001t0001g0090 a0002c0001t0001g0133 a0002c0001t0001g0176 a0002c0001t0001g0265 a0002c0001t0001g0274 a0002c0001t0001g0296 a0002c0001t0001g0314 a0002c0001t0002g0021 a0002c0001t0002g0022 a0002c0001t0002g0167 a0002c0001t0002g0280 a0002c0001t0002g0299 a0002c0001t0002g0308 a0002c0001t0003g0002 a0002c0001t0003g0109 a0002c0001t0003g0128 a0002c0001t0003g0129 a0002c0001t0003g0131 a0002c0001t0009g0243	43	348	0.1236	-14	c.112 others(33): Show c.1120-3448_1120-3435delTTTTTTTTTTTTTT	EMID1	ENSG00000186998.16	transcript	ENST00000334018.11	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
EMILIN2_chr18_2842006_2921003	2858522	CATATATA others(7): Show CATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0011 a0001c0004t0011	a0001c0004t0011g0054 a0001c0004t0011g0054	1	452	0.0022	-14	c.257 others(33): Show c.257+10626_257+10639delATATATATATATAT	EMILIN2	ENSG00000132205.11	transcript	ENST00000254528.4	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
EMILIN2_chr18_2842006_2921003	2858557	ATATATAT others(7): Show ATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01993.hp2 HG02004.hp2 others(4): Show HG01952.hp1 HG01993.hp2 HG02004.hp2 HG02148.hp2 HG02257.hp1 HG02300.hp1 NA20300.hp2	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0001 a0001c0002 a0001c0008 others(3): Show a0001c0001 a0001c0002 a0001c0008 a0002c0007 a0002c0024 a0010c0017	a0001c0001t0002 a0001c0002t0003 a0001c0008t0043 others(4): Show a0001c0001t0002 a0001c0002t0003 a0001c0008t0043 a0002c0007t0009 a0002c0024t0004 a0002c0024t0009 a0010c0017t0007	a0001c0001t0002g0181 a0001c0002t0003g0178 a0001c0008t0043g0176 others(4): Show a0001c0001t0002g0181 a0001c0002t0003g0178 a0001c0008t0043g0176 a0002c0007t0009g0177 a0002c0024t0004g0180 a0002c0024t0009g0179 a0010c0017t0007g0074	7	452	0.0155	-14	c.257 others(33): Show c.257+10628_257+10641delATATATATATATGT	EMILIN2	ENSG00000132205.11	transcript	ENST00000254528.4	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr18	TogoVar

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