Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
EIF4A1_chr17_7567825_7584006	7571890	TATATATA others(15): Show TATATATATATATATATATAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	436	0.0023	-22	c.-95 others(31): Show c.-951_-930delATATATATATATATATATAAAA	EIF4A1	ENSG00000161960.16	transcript	ENST00000293831.13	protein_coding		934		chr17	TogoVar
EIF4E1B_chr5_176625675_176651644	176647214	GGGGGCGG others(15): Show GGGGGCGGGGCCTGGCCGAAGGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	422	0.0024	-22	c.12 others(33): Show c.1235_*1256delGGGGCGGGGCCTGGCCGAAGGC	EIF4E1B	ENSG00000175766.13	transcript	ENST00000318682.11	protein_coding		571		chr5	TogoVar
EIF4ENIF1_chr22_31434367_31494842	31450844	TACACACA others(15): Show TACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	366	0.0027	-22	c.151 others(39): Show c.1513-506_1513-485delGTGTGTGTGTGTGTGTGTGTGT	EIF4ENIF1	ENSG00000184708.18	transcript	ENST00000330125.10	protein_coding	10/18			chr22	TogoVar
EIF4E_chr4_98874276_98934133	98917115	CACACACA others(15): Show CACACACACACACACACACAAAA	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01192.hp1 HG01358.hp1 others(14): Show HG01081.hp1 HG01192.hp1 HG01358.hp1 HG01496.hp1 HG01515.hp2 HG02148.hp1 HG02257.hp2 HG02280.hp1 HG02486.hp1 HG02602.hp2 HG03017.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03710.hp2 NA19043.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0003 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0003 a0001c0002t0007	a0001c0001t0001g0198 a0001c0001t0003g0091 a0001c0002t0003g0006 others(13): Show a0001c0001t0001g0198 a0001c0001t0003g0091 a0001c0002t0003g0006 a0001c0002t0003g0076 a0001c0002t0003g0077 a0001c0002t0003g0078 a0001c0002t0003g0079 a0001c0002t0003g0081 a0001c0002t0003g0082 a0001c0002t0003g0083 a0001c0002t0003g0087 a0001c0002t0003g0088 a0001c0002t0003g0089 a0001c0002t0007g0080 a0001c0002t0007g0085 a0001c0002t0007g0086	17	300	0.0567	-22	c.18+ others(39): Show c.18+11958_18+11979delTTTTGTGTGTGTGTGTGTGTGT	EIF4E	ENSG00000151247.13	transcript	ENST00000450253.7	protein_coding	1/6			chr4	TogoVar
EIF4G1_chr3_184309606_184340353	184319445	GTGTGTGT others(15): Show GTGTGTGTGTGTGTGTGTGTGTT	G G	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03130.hp1 NA21309.hp2 HG02451.hp2 HG03130.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0074 a0001c0001t0001g0146 a0001c0001t0001g0147	3	384	0.0078	-22	c.425 others(37): Show c.425-226_425-205delGTGTTTGTGTGTGTGTGTGTGT	EIF4G1	ENSG00000114867.22	transcript	ENST00000346169.7	protein_coding	6/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
EIF4G3_chr1_20801479_21181897	20943967	ATTTTTTT others(15): Show ATTTTTTTTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0253 a0001c0001t0003g0253	1	312	0.0032	-22	c.824 others(39): Show c.824-1659_824-1638delACACACACACACACAAAAAAAA	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	13/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	20943970	TTTTTTGT others(15): Show TTTTTTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0311 a0001c0001t0001g0311	1	312	0.0032	-22	c.824 others(39): Show c.824-1662_824-1641delCACACACACACACACACAAAAA	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	13/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	21075570	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG03239.hp2 HG03490.hp2 HG01106.hp2 HG03239.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0170 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0170	3	312	0.0096	-22	c.-19 others(43): Show c.-196+13546_-196+13567delTTTTTTTTTTTTTTTTTTTTTT	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	3/36			chr1	TogoVar
EIF4H_chr7_74169356_74202096	74186788	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01123.hp1 HG02165.hp2 others(7): Show HG00673.hp1 HG01123.hp1 HG02165.hp2 HG03017.hp1 HG04115.hp2 NA18941.hp1 NA18949.hp1 NA19070.hp2 NA19079.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0228 others(1): Show a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0228 a0001c0001t0001g0229	10	374	0.0267	-22	c.60- others(35): Show c.60-792_60-771delTTTTTTTTTTTTTTTTTTTTTT	EIF4H	ENSG00000106682.16	transcript	ENST00000265753.13	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr7	TogoVar
EIPR1_chr2_3183970_3382818	3235426	ACACACAC others(15): Show ACACACACACACACGCGTGCGCG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0220 a0001c0001t0002g0220	1	250	0.0040	-22	c.417 others(41): Show c.417-21200_417-21179delCGCGCACGCGTGTGTGTGTGTG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	4/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3293802	CTTGATCA others(15): Show CTTGATCACAGACAATTTTGAAT	C C	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	250	0.0040	-22	c.260 others(41): Show c.260-36369_260-36348delATTCAAAATTGTCTGTGATCAA	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3315156	CCTACCAT others(15): Show CCTACCATCATCACCACCCCCTA	C C	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0103 a0001c0001t0004g0103	1	250	0.0040	-22	c.259 others(41): Show c.259+22839_259+22860delTAGGGGGTGGTGATGATGGTAG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
ELAC2_chr17_12986612_13023027	13022598	TTCTTTCT others(15): Show TTCTTTCTTTCTTTCTTTCTGTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0221 a0001c0001t0011g0221	1	400	0.0025	-22	c.-46 others(33): Show c.-4673_-4652delGACAGAAAGAAAGAAAGAAAGA	ELAC2	ENSG00000006744.19	transcript	ENST00000338034.9	protein_coding		4572		chr17	TogoVar
ELAVL2_chr9_23685104_23831240	23699812	GTTTTTTT others(15): Show GTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18991.hp1 NA19030.hp2 others(2): Show NA18953.hp2 NA18991.hp1 NA19030.hp2 NA19078.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0048 a0001c0001t0001g0100 a0001c0001t0001g0167 others(2): Show a0001c0001t0001g0048 a0001c0001t0001g0100 a0001c0001t0001g0167 a0001c0001t0001g0185 a0001c0001t0003g0163	5	352	0.0142	-22	c.713 others(39): Show c.713+1545_713+1566delAAAAAAAAAAAAAAAAAAAAAA	ELAVL2	ENSG00000107105.15	transcript	ENST00000397312.7	protein_coding	5/6			chr9	TogoVar
ELAVL2_chr9_23685104_23831240	23759754	TTATATAT others(15): Show TTATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG04204.hp2 NA18939.hp2 others(7): Show HG00544.hp1 HG04204.hp2 NA18939.hp2 NA18944.hp1 NA18956.hp2 NA18963.hp2 NA18971.hp1 NA18993.hp1 NA18995.hp1 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0314 a0001c0001t0001g0319 a0001c0001t0001g0324 others(7): Show a0001c0001t0001g0314 a0001c0001t0001g0319 a0001c0001t0001g0324 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0331 a0001c0001t0001g0333 a0001c0001t0001g0334	10	352	0.0284	-22	c.229 others(39): Show c.229+2230_229+2251delTATATATATATATATATATATA	ELAVL2	ENSG00000107105.15	transcript	ENST00000397312.7	protein_coding	2/6			chr9	TogoVar
ELAVL2_chr9_23685104_23831240	23779979	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01167.hp1 HG01169.hp1 others(5): Show HG00544.hp1 HG01167.hp1 HG01169.hp1 HG02280.hp1 HG04204.hp2 NA18963.hp2 NA18971.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0319 a0001c0001t0001g0327 others(5): Show a0001c0001t0001g0093 a0001c0001t0001g0319 a0001c0001t0001g0327 a0001c0001t0001g0329 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0336 a0001c0001t0001g0337	8	352	0.0227	-22	c.-15 others(41): Show c.-15-17752_-15-17731delTTTTTTTTTTTTTTTTTTTTTT	ELAVL2	ENSG00000107105.15	transcript	ENST00000397312.7	protein_coding	1/6			chr9	TogoVar
ELAVL4_chr1_50103920_50208772	50119072	GAAAGAAA others(15): Show GAAAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02895.hp2 NA19043.hp2 NA19081.hp2 HG02895.hp2 NA19043.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0004 a0001c0001t0001 a0001c0002t0004	a0001c0001t0001g0099 a0001c0001t0001g0193 a0001c0002t0004g0098 a0001c0001t0001g0099 a0001c0001t0001g0193 a0001c0002t0004g0098	3	276	0.0109	-22	c.9+9 others(35): Show c.9+9882_9+9903delGAAAGAAAGAAAGAAAAAGAAA	ELAVL4	ENSG00000162374.18	transcript	ENST00000371824.7	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
ELF4_chrX_130058955_130115497	130061616	GCTGCAGT others(15): Show GCTGCAGTGACCCAAGATCGCAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0046 a0005c0005t0046	a0005c0005t0046g0196 a0005c0005t0046g0196	1	274	0.0037	-22	c.50 others(33): Show c.5083_*5104delGTGCGATCTTGGGTCACTGCAG	ELF4	ENSG00000102034.18	transcript	ENST00000308167.10	protein_coding		2338		chrX	TogoVar
ELF5_chr11_34473791_34518794	34511497	GAATCAGG others(15): Show GAATCAGGTGGGCTCACTTCACA	G G	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0060 a0001c0002t0004g0060	1	436	0.0023	-22	c.-5+ others(37): Show c.-5+2158_-5+2179delTGTGAAGTGAGCCCACCTGATT	ELF5	ENSG00000135374.11	transcript	ENST00000257832.7	protein_coding	1/6			chr11	TogoVar
ELFN1_chr7_1665277_1752946	1711575	TGAGAGAG others(15): Show TGAGAGAGAGAGAGAGAGAGAGA	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 NA18522.hp2 HG00639.hp1 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0024 a0001c0001 a0002c0024	a0001c0001t0001 a0002c0024t0030 a0001c0001t0001 a0002c0024t0030	a0001c0001t0001g0257 a0002c0024t0030g0020 a0001c0001t0001g0257 a0002c0024t0030g0020	2	302	0.0066	-22	c.-29 others(41): Show c.-294+2354_-294+2375delGAGAGAGAGAGAGAGAGAGAGA	ELFN1	ENSG00000225968.8	transcript	ENST00000424383.5	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
ELFN2_chr22_37362960_37432479	37381970	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0164 a0001c0001t0005g0164	1	334	0.0030	-22	c.-46 others(41): Show c.-462-5996_-462-5975delCTTTTTTTTTTTTTTTTTTTTT	ELFN2	ENSG00000166897.16	transcript	ENST00000402918.7	protein_coding	2/2			chr22	TogoVar
ELK3_chr12_96189375_96274824	96241426	TTGTGTGT others(15): Show TTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0013 a0001c0001t0009g0013	1	354	0.0028	-22	c.208 others(39): Show c.208-5502_208-5481delGTGTGTGTGTGTGTGTGTGTGT	ELK3	ENSG00000111145.8	transcript	ENST00000228741.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr12	TogoVar
ELL2_chr5_95880098_95966851	95927398	CATACACA others(15): Show CATACACACACGTGTGTATATAG	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0160 a0001c0001t0003g0160	1	314	0.0032	-22	c.196 others(39): Show c.196-7875_196-7854delCTATATACACACGTGTGTGTAT	ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	2/11			chr5	TogoVar
ELL2_chr5_95880098_95966851	95927478	CACACACG others(15): Show CACACACGTGTGTATATAGACAT	C C	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01943.hp2 HG02300.hp1 others(8): Show HG01261.hp1 HG01943.hp2 HG02300.hp1 HG02615.hp2 NA18940.hp1 NA18943.hp2 NA18962.hp2 NA18997.hp2 NA19002.hp1 NA19077.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0243 a0001c0001t0003g0051 a0001c0001t0003g0173 others(8): Show a0001c0001t0002g0243 a0001c0001t0003g0051 a0001c0001t0003g0173 a0001c0001t0003g0174 a0001c0001t0003g0183 a0001c0001t0003g0185 a0001c0001t0003g0188 a0001c0001t0003g0209 a0001c0001t0003g0212 a0001c0001t0003g0227 a0001c0001t0003g0290	11	314	0.0350	-22	c.196 others(39): Show c.196-7955_196-7934delATGTCTATATACACACGTGTGT	ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	2/11			chr5	TogoVar
ELL_chr19_18437663_18527070	18491249	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02735.hp2 HG02896.hp2 others(4): Show HG01123.hp2 HG02735.hp2 HG02896.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG06807.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0002g0033 a0001c0001t0002g0040 a0001c0001t0002g0054 others(4): Show a0001c0001t0002g0033 a0001c0001t0002g0040 a0001c0001t0002g0054 a0001c0001t0002g0076 a0002c0002t0001g0014 a0002c0002t0001g0130 a0002c0002t0001g0139	7	244	0.0287	-22	c.136 others(41): Show c.136-18389_136-18368delAAAAAAAAAAAAAAAAAAAAAA	ELL	ENSG00000105656.13	transcript	ENST00000262809.9	protein_coding	1/11			chr19	TogoVar
ELL_chr19_18437663_18527070	18509591	GCGCACAT others(15): Show GCGCACATACACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01074.hp2 others(13): Show HG01069.hp1 HG01071.hp1 HG01074.hp2 HG01255.hp1 HG01255.hp2 HG01261.hp1 HG01346.hp1 HG01515.hp2 HG01516.hp1 HG01891.hp2 HG01943.hp1 HG01975.hp2 HG02109.hp2 HG02148.hp2 HG03516.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0018 a0001c0001t0001 a0001c0001t0014 a0001c0001t0018	a0001c0001t0001g0145 a0001c0001t0001g0178 a0001c0001t0001g0181 others(13): Show a0001c0001t0001g0145 a0001c0001t0001g0178 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0014g0208 a0001c0001t0018g0207	16	244	0.0656	-22	c.135 others(41): Show c.135+12308_135+12329delTGTGTGTGTGTGTGTATGTGCG	ELL	ENSG00000105656.13	transcript	ENST00000262809.9	protein_coding	1/11			chr19	TogoVar
ELL_chr19_18437663_18527070	18509593	GCACATAC others(15): Show GCACATACACACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02451.hp1 HG02615.hp2 others(14): Show HG02280.hp2 HG02451.hp1 HG02615.hp2 HG02717.hp2 HG02738.hp1 HG02886.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03098.hp1 HG03139.hp1 HG03209.hp1 HG03453.hp1 HG06807.hp2 NA18975.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0003t0001 a0002c0002t0001	a0001c0001t0001g0155 a0001c0001t0001g0164 a0001c0001t0001g0168 others(14): Show a0001c0001t0001g0155 a0001c0001t0001g0164 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0179 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0002g0005 a0001c0001t0004g0151 a0001c0003t0001g0165 a0001c0003t0001g0166 a0001c0003t0001g0167 a0002c0002t0001g0137	17	244	0.0697	-22	c.135 others(41): Show c.135+12306_135+12327delTGTGTGTGTGTGTGTGTATGTG	ELL	ENSG00000105656.13	transcript	ENST00000262809.9	protein_coding	1/11			chr19	TogoVar
ELMO1_chr7_36847906_37453864	36953839	TTGTGTGT others(15): Show TTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01106.hp2 HG01243.hp2 others(38): Show HG00741.hp1 HG01106.hp2 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG02027.hp1 HG02027.hp2 HG02080.hp1 HG02109.hp2 HG02486.hp2 HG02559.hp2 HG02717.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02965.hp1 HG02965.hp2 HG03098.hp2 HG03130.hp2 HG03195.hp2 HG03453.hp2 HG03471.hp1 HG03579.hp2 HG03927.hp1 HG03927.hp2 HG04228.hp2 NA18906.hp2 NA18970.hp1 NA18970.hp2 NA19000.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp2 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0012 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0007 a0001c0003t0002 a0001c0003t0008 a0001c0004t0002 a0001c0005t0002 a0001c0005t0007	a0001c0001t0001g0005 a0001c0001t0001g0024 a0001c0001t0001g0025 others(38): Show a0001c0001t0001g0005 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0040 a0001c0001t0001g0074 a0001c0001t0001g0085 a0001c0001t0002g0002 a0001c0001t0002g0067 a0001c0001t0003g0017 a0001c0001t0003g0026 a0001c0001t0003g0082 a0001c0001t0004g0007 a0001c0001t0004g0043 a0001c0001t0004g0063 a0001c0001t0004g0080 a0001c0001t0006g0004 a0001c0001t0006g0008 a0001c0001t0009g0055 a0001c0001t0012g0066 a0001c0002t0001g0052 a0001c0002t0001g0071 a0001c0002t0003g0013 a0001c0002t0003g0032 a0001c0002t0003g0037 a0001c0002t0003g0051 a0001c0002t0003g0077 a0001c0002t0004g0023 a0001c0002t0004g0053 a0001c0002t0005g0031 a0001c0002t0005g0056 a0001c0002t0007g0001 a0001c0002t0007g0018 a0001c0002t0007g0064 a0001c0003t0002g0035 a0001c0003t0002g0089 a0001c0003t0002g0091 a0001c0003t0008g0045 a0001c0003t0008g0079 a0001c0004t0002g0086 a0001c0005t0002g0042 a0001c0005t0007g0016	41	92	0.4457	-22	c.143 others(43): Show c.1438-58844_1438-58823delCACACACACACACACACACACA	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	16/21			chr7	TogoVar
ELMO1_chr7_36847906_37453864	37188433	CACACACA others(15): Show CACACACACACACACACACGCAA	C C	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01256.hp1 HG01361.hp2 others(1): Show HG00741.hp2 HG01256.hp1 HG01361.hp2 HG03471.hp2	a0001 a0001	a0001c0003 a0001c0007 a0001c0003 a0001c0007	a0001c0003t0002 a0001c0003t0008 a0001c0007t0001 a0001c0003t0002 a0001c0003t0008 a0001c0007t0001	a0001c0003t0002g0050 a0001c0003t0008g0045 a0001c0003t0008g0079 others(1): Show a0001c0003t0002g0050 a0001c0003t0008g0045 a0001c0003t0008g0079 a0001c0007t0001g0015	4	92	0.0435	-22	c.108 others(43): Show c.1086+22931_1086+22952delTTGCGTGTGTGTGTGTGTGTGT	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	13/21			chr7	TogoVar
ELMO1_chr7_36847906_37453864	37267036	TATACACA others(15): Show TATACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0059 a0001c0001t0008g0059	1	92	0.0109	-22	c.243 others(39): Show c.243+4774_243+4795delGTGTGTGTGTGTGTGTGTGTAT	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	5/21			chr7	TogoVar
ELMO1_chr7_36847906_37453864	37267038	TACACACA others(15): Show TACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03195.hp1 HG06807.hp2 others(1): Show HG02886.hp2 HG03195.hp1 HG06807.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0017 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0017 a0001c0003t0002	a0001c0001t0001g0029 a0001c0001t0002g0019 a0001c0001t0017g0012 others(1): Show a0001c0001t0001g0029 a0001c0001t0002g0019 a0001c0001t0017g0012 a0001c0003t0002g0091	4	92	0.0435	-22	c.243 others(39): Show c.243+4772_243+4793delGTGTGTGTGTGTGTGTGTGTGT	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	5/21			chr7	TogoVar
ELMO2_chr20_46361050_46411615	46369961	GGTGTGTG others(15): Show GGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0205 a0001c0001t0002g0205	1	312	0.0032	-22	c.188 others(39): Show c.1884+460_1884+481delACACACACACACACACACACAC	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding	20/21			chr20	TogoVar
ELMOD1_chr11_107586147_107671779	107590332	TTCTCTCT others(15): Show TTCTCTCTCTCTCTCTCTCTCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 NA18967.hp2 HG02280.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0028 a0001c0002t0002g0278 a0001c0001t0001g0028 a0001c0002t0002g0278	2	342	0.0059	-22	c.-11 others(33): Show c.-1162_-1141delTCTCTCTCTCTCTCTCTCTCTC	ELMOD1	ENSG00000110675.13	transcript	ENST00000265840.12	protein_coding		814		chr11	TogoVar
ELMOD2_chr4_140519168_140558770	140535137	TTCTCTCT others(15): Show TTCTCTCTCTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0101 a0001c0001t0006g0101	1	370	0.0027	-22	c.172 others(37): Show c.172-577_172-556delTCTCTCTCTCTCTCTCTCTCTC	ELMOD2	ENSG00000179387.10	transcript	ENST00000323570.8	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
ELMOD3_chr2_85349769_85396748	85392211	AAACCCCG others(15): Show AAACCCCGTCTCTACTGAAAATG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	386	0.0026	-22	c.12 others(33): Show c.1250_*1271delAACCCCGTCTCTACTGAAAATG	ELMOD3	ENSG00000115459.18	transcript	ENST00000409013.8	protein_coding		464		chr2	TogoVar
ELOA_chr1_23738471_23767059	23765206	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 NA18961.hp2 HG00741.hp1 NA18961.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0005 a0001c0002t0001g0049 a0001c0002t0001g0005 a0001c0002t0001g0049	2	400	0.0050	-22	c.56 others(33): Show c.5634_*5655delTTTTTTTTTTTTTTTTTTTTTT	ELOA	ENSG00000011007.13	transcript	ENST00000613537.5	protein_coding		3148		chr1	TogoVar
ELOF1_chr19_11548046_11564230	11553582	TACACACA others(15): Show TACACACACACACACACACACAC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00735.hp2 HG01099.hp1 HG01106.hp2 others(4): Show HG00735.hp2 HG01099.hp1 HG01106.hp2 HG01361.hp2 HG01496.hp2 HG02004.hp2 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0043 a0001c0001t0015 a0001c0001t0043	a0001c0001t0015g0018 a0001c0001t0015g0113 a0001c0001t0043g0118 a0001c0001t0015g0018 a0001c0001t0015g0113 a0001c0001t0043g0118	7	412	0.0170	-22	c.14 others(31): Show c.142_*163delGTGTGTGTGTGTGTGTGTGTGT	ELOF1	ENSG00000130165.11	transcript	ENST00000252445.8	protein_coding	4/4	142		chr19	TogoVar
ELOVL6_chr4_110040846_110203615	110094423	ATATATAT others(15): Show ATATATATATATATATATATAAT	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02155.hp2 NA19067.hp1 HG00544.hp1 HG02155.hp2 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0101 a0001c0001t0020g0103 a0001c0001t0020g0211 a0001c0001t0020g0101 a0001c0001t0020g0103 a0001c0001t0020g0211	3	338	0.0089	-22	c.221 others(41): Show c.221+11052_221+11073delATTATATATATATATATATATA	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELP1_chr9_108862517_108939124	108929212	CCCTTGCT others(15): Show CCCTTGCTGTTAAGAAGGTGAGG	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03041.hp2 HG01243.hp2 HG03041.hp2	a0006 a0016 a0006 a0016	a0006c0006 a0016c0025 a0006c0006 a0016c0025	a0006c0006t0008 a0016c0025t0008 a0006c0006t0008 a0016c0025t0008	a0006c0006t0008g0375 a0016c0025t0008g0376 a0006c0006t0008g0375 a0016c0025t0008g0376	2	416	0.0048	-22	c.303 others(37): Show c.303+535_303+556delCCTCACCTTCTTAACAGCAAGG	ELP1	ENSG00000070061.16	transcript	ENST00000374647.10	protein_coding	3/36			chr9	TogoVar
ELP2_chr18_36124899_36185557	36172069	ATGGTCTC others(15): Show ATGGTCTCTACCAGTGAGACCCC	A A	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00673.hp2 HG00738.hp1 others(39): Show HG00621.hp2 HG00673.hp2 HG00738.hp1 HG01175.hp2 HG01934.hp2 HG01975.hp2 HG02027.hp2 HG02273.hp1 HG02602.hp2 HG02615.hp1 HG02683.hp2 HG02698.hp1 HG02738.hp2 HG02976.hp2 HG03654.hp2 HG03669.hp2 HG03704.hp2 HG03710.hp1 HG03834.hp2 HG04204.hp2 NA18942.hp1 NA18945.hp2 NA18954.hp1 NA18960.hp2 NA18974.hp1 NA18975.hp2 NA18979.hp2 NA18982.hp1 NA18986.hp2 NA18988.hp1 NA18998.hp2 NA19000.hp1 NA19004.hp1 NA19005.hp2 NA19054.hp1 NA19057.hp2 NA19062.hp2 NA19086.hp2 NA19088.hp2 NA19090.hp2 NA20300.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0021 a0001c0001t0028 others(7): Show a0001c0001t0004 a0001c0001t0021 a0001c0001t0028 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0055	a0001c0001t0004g0004 a0001c0001t0004g0008 a0001c0001t0004g0009 others(36): Show a0001c0001t0004g0004 a0001c0001t0004g0008 a0001c0001t0004g0009 a0001c0001t0004g0053 a0001c0001t0004g0054 a0001c0001t0004g0169 a0001c0001t0004g0170 a0001c0001t0004g0204 a0001c0001t0004g0205 a0001c0001t0004g0206 a0001c0001t0004g0209 a0001c0001t0004g0210 a0001c0001t0004g0212 a0001c0001t0004g0214 a0001c0001t0004g0215 a0001c0001t0004g0216 a0001c0001t0004g0217 a0001c0001t0004g0218 a0001c0001t0004g0219 a0001c0001t0004g0220 a0001c0001t0004g0225 a0001c0001t0004g0226 a0001c0001t0004g0227 a0001c0001t0004g0229 a0001c0001t0004g0230 a0001c0001t0004g0232 a0001c0001t0004g0233 a0001c0001t0021g0203 a0001c0001t0021g0208 a0001c0001t0021g0231 a0001c0001t0028g0213 a0001c0001t0028g0228 a0001c0001t0044g0211 a0001c0001t0045g0221 a0001c0001t0046g0207 a0001c0001t0047g0202 a0001c0001t0048g0234 a0001c0001t0049g0222 a0001c0001t0055g0353	42	378	0.1111	-22	c.232 others(39): Show c.2324+922_2324+943delGTGAGACCCCTGGTCTCTACCA	ELP2	ENSG00000134759.14	transcript	ENST00000358232.11	protein_coding	21/21		INFO_REALIGN_3_PRIME	chr18	TogoVar
ELP3_chr8_28088139_28196153	28119572	TTATATAT others(15): Show TTATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01256.hp1 HG01258.hp2 others(5): Show HG00733.hp2 HG01256.hp1 HG01258.hp2 HG02083.hp2 HG02559.hp1 NA18961.hp2 NA19055.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0167 a0001c0001t0002g0087 a0001c0001t0003g0022 others(4): Show a0001c0001t0001g0167 a0001c0001t0002g0087 a0001c0001t0003g0022 a0001c0001t0003g0334 a0001c0001t0003g0335 a0001c0001t0003g0336 a0001c0001t0003g0360	8	398	0.0201	-22	c.617 others(39): Show c.617+6435_617+6456delATATATATATATATATATATAT	ELP3	ENSG00000134014.18	transcript	ENST00000256398.13	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
ELP4_chr11_31504767_31795324	31669076	ATTTATTT others(15): Show ATTTATTTTTATTTTATTTTATT	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03098.hp2 HG03130.hp2 others(3): Show HG02647.hp1 HG03098.hp2 HG03130.hp2 HG03209.hp2 HG03540.hp1 NA18522.hp1	a0001 a0005 a0001 a0005	a0001c0002 a0005c0006 a0001c0002 a0005c0006	a0001c0002t0014 a0001c0002t0024 a0001c0002t0044 others(2): Show a0001c0002t0014 a0001c0002t0024 a0001c0002t0044 a0001c0002t0045 a0005c0006t0032	a0001c0002t0014g0246 a0001c0002t0024g0244 a0001c0002t0024g0248 others(3): Show a0001c0002t0014g0246 a0001c0002t0024g0244 a0001c0002t0024g0248 a0001c0002t0044g0226 a0001c0002t0045g0245 a0005c0006t0032g0253	6	270	0.0222	-22	c.114 others(43): Show c.1143+18875_1143+18896delATTTTTATTTTTATTTTATTTT	ELP4	ENSG00000109911.19	transcript	ENST00000640961.2	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr11	TogoVar
ELP4_chr11_31504767_31795324	31678495	ATGTGTGT others(15): Show ATGTGTGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0162 a0001c0001t0015g0162	1	270	0.0037	-22	c.114 others(43): Show c.1143+28300_1143+28321delGTGTGTGTGTGTGTGTGTGTGT	ELP4	ENSG00000109911.19	transcript	ENST00000640961.2	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr11	TogoVar
ELP4_chr11_31504767_31795324	31794420	CCACACAC others(15): Show CCACACACACACACACACACACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 HG01496.hp2 HG03130.hp1 others(7): Show HG01433.hp1 HG01496.hp2 HG03130.hp1 HG03209.hp1 HG03834.hp1 NA18522.hp2 NA18747.hp1 NA18945.hp2 NA18970.hp2 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0001t0027 a0001c0001t0049 a0001c0001t0056	a0001c0001t0001g0003 a0001c0001t0001g0032 a0001c0001t0001g0056 others(7): Show a0001c0001t0001g0003 a0001c0001t0001g0032 a0001c0001t0001g0056 a0001c0001t0003g0214 a0001c0001t0005g0005 a0001c0001t0005g0006 a0001c0001t0009g0195 a0001c0001t0027g0048 a0001c0001t0049g0262 a0001c0001t0056g0111	10	270	0.0370	-22	c.10 others(35): Show c.10897_*10918delCACACACACACACACACACACA	ELP4	ENSG00000109911.19	transcript	ENST00000640961.2	protein_coding		4097		chr11	TogoVar
EMC10_chr19_50471507_50495871	50471754	ATGTGTAT others(15): Show ATGTGTATACGCATACATACCTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0064 a0001c0002t0064	a0001c0002t0064g0004 a0001c0002t0064g0004	1	352	0.0028	-22	c.-47 others(33): Show c.-4790_-4769delTGTGTATACGCATACATACCTG	EMC10	ENSG00000161671.17	transcript	ENST00000334976.11	protein_coding		4752		chr19	TogoVar
EMC2_chr8_108438624_108494196	108457321	CGTGTGTG others(15): Show CGTGTGTGTGCGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01081.hp1 HG01123.hp2 others(9): Show HG00738.hp2 HG01081.hp1 HG01123.hp2 HG01433.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01975.hp1 HG02698.hp1 HG03688.hp2 HG04228.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0138 a0001c0001t0002g0139 others(5): Show a0001c0001t0002g0005 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0274	12	364	0.0330	-22	c.363 others(39): Show c.363+1401_363+1422delCGTGTGTGTGTGTGTGTGTGTG	EMC2	ENSG00000104412.8	transcript	ENST00000220853.8	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
EMCN_chr4_100390341_100523022	100459168	GCTCTCTC others(15): Show GCTCTCTCTCTCTCTCTCTCTCT	G G	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG03669.hp1 NA19043.hp1 HG00735.hp2 HG03669.hp1 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0032 a0002c0002t0004 a0001c0001t0002 a0001c0001t0032 a0002c0002t0004	a0001c0001t0002g0122 a0001c0001t0032g0254 a0002c0002t0004g0162 a0001c0001t0002g0122 a0001c0001t0032g0254 a0002c0002t0004g0162	3	262	0.0115	-22	c.376 others(39): Show c.376+6233_376+6254delAGAGAGAGAGAGAGAGAGAGAG	EMCN	ENSG00000164035.10	transcript	ENST00000296420.9	protein_coding	4/11			chr4	TogoVar
EMID1_chr22_29200896_29264597	29221066	CGTGTGTG others(15): Show CGTGTGTGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00733.hp1 HG01081.hp1 others(40): Show HG00558.hp1 HG00733.hp1 HG01081.hp1 HG01192.hp2 HG01255.hp2 HG01496.hp2 HG01891.hp2 HG02083.hp1 HG02257.hp2 HG02451.hp2 HG02523.hp1 HG02559.hp2 HG02630.hp2 HG02647.hp2 HG02818.hp2 HG02896.hp1 HG02897.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03139.hp2 HG03239.hp2 HG03453.hp1 HG03486.hp2 HG04184.hp2 NA18747.hp1 NA18747.hp2 NA18940.hp2 NA18960.hp1 NA18964.hp1 NA18973.hp2 NA18986.hp2 NA18993.hp1 NA19004.hp2 NA19030.hp2 NA19043.hp1 NA19083.hp1 NA19084.hp1 NA19088.hp1 NA19088.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0002 a0002c0001 a0003c0003 others(1): Show a0001c0002 a0002c0001 a0003c0003 a0004c0004	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(8): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 a0002c0001t0001 a0002c0001t0002 a0002c0001t0003 a0003c0003t0001 a0003c0003t0003 a0004c0004t0001 a0004c0004t0003	a0001c0002t0001g0014 a0001c0002t0001g0018 a0001c0002t0001g0019 others(39): Show a0001c0002t0001g0014 a0001c0002t0001g0018 a0001c0002t0001g0019 a0001c0002t0001g0030 a0001c0002t0001g0117 a0001c0002t0001g0137 a0001c0002t0001g0211 a0001c0002t0001g0212 a0001c0002t0002g0013 a0001c0002t0002g0017 a0001c0002t0002g0197 a0001c0002t0002g0199 a0001c0002t0002g0200 a0001c0002t0002g0201 a0001c0002t0002g0202 a0001c0002t0002g0203 a0001c0002t0002g0204 a0001c0002t0002g0206 a0001c0002t0002g0223 a0001c0002t0002g0266 a0001c0002t0002g0277 a0001c0002t0003g0003 a0001c0002t0003g0196 a0001c0002t0003g0214 a0001c0002t0006g0198 a0002c0001t0001g0265 a0002c0001t0001g0279 a0002c0001t0001g0284 a0002c0001t0002g0267 a0002c0001t0002g0280 a0002c0001t0002g0287 a0002c0001t0003g0232 a0003c0003t0001g0210 a0003c0003t0003g0015 a0003c0003t0003g0016 a0003c0003t0003g0205 a0003c0003t0003g0222 a0003c0003t0003g0224 a0004c0004t0001g0213 a0004c0004t0003g0118 a0004c0004t0003g0185 a0004c0004t0003g0209	43	348	0.1236	-22	c.320 others(39): Show c.320-4030_320-4009delGTGTGTGTGTGTGTGTGTGTGT	EMID1	ENSG00000186998.16	transcript	ENST00000334018.11	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
EMILIN2_chr18_2842006_2921003	2858522	CATATATA others(15): Show CATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02717.hp1 NA18984.hp2 HG02717.hp1 NA18984.hp2	a0001 a0001	a0001c0003 a0001c0014 a0001c0003 a0001c0014	a0001c0003t0003 a0001c0014t0004 a0001c0003t0003 a0001c0014t0004	a0001c0003t0003g0325 a0001c0014t0004g0006 a0001c0003t0003g0325 a0001c0014t0004g0006	2	452	0.0044	-22	c.257 others(41): Show c.257+10618_257+10639delATATATATATATATATATATAT	EMILIN2	ENSG00000132205.11	transcript	ENST00000254528.4	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
EMILIN2_chr18_2842006_2921003	2858579	GTGTGTAT others(15): Show GTGTGTATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0292 a0001c0001t0003g0292	1	452	0.0022	-22	c.257 others(41): Show c.257+10666_257+10687delATATATGTGTATATATATATAT	EMILIN2	ENSG00000132205.11	transcript	ENST00000254528.4	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr18	TogoVar

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