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
EHD2_chr19_47708422_47748134	47747540	G G	GCTGAGGC others(31): Show GCTGAGGCAGGAGAATCAAAATAGAAAAAAAAAGGAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0024 a0001c0002t0006g0024	1	398	0.0025	38	c.61 others(49): Show c.6108_*6109insCTGAGGCAGGAGAATCAAAATAGAAAAAAAAAGG AGGA	EHD2	ENSG00000024422.12	transcript	ENST00000263277.8	protein_coding		4407		chr19	TogoVar
EHMT1_chr9_137614005_137841127	137818781	T T	TAGGGGCG others(31): Show TAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCCGATTG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01169.hp2 HG01361.hp1 others(2): Show HG01081.hp1 HG01169.hp2 HG01361.hp1 HG02723.hp2 HG03041.hp2	a0001 a0004 a0001 a0004	a0001c0004 a0001c0005 a0004c0017 a0001c0004 a0001c0005 a0004c0017	a0001c0004t0001 a0001c0005t0001 a0004c0017t0001 a0001c0004t0001 a0001c0005t0001 a0004c0017t0001	a0001c0004t0001g0081 a0001c0004t0001g0096 a0001c0004t0001g0099 others(2): Show a0001c0004t0001g0081 a0001c0004t0001g0096 a0001c0004t0001g0099 a0001c0005t0001g0072 a0004c0017t0001g0007	5	170	0.0294	38	c.354 others(55): Show c.3540+664_3540+665insTGTAGAGAGGCCGATTGAGGGGCGCCGT GTACCGAGAC	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137818791	G G	GTGTACCG others(31): Show GTGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01169.hp1 HG01346.hp2 others(1): Show HG01106.hp2 HG01169.hp1 HG01346.hp2 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0006 others(1): Show a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0006 a0001c0002t0001g0018	4	170	0.0235	38	c.354 others(55): Show c.3540+664_3540+665insTGTAGAGAGGCCGATTGAGGGGCGCCAT GTACCGAGAC	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137818933	G G	GAGGGGCG others(31): Show GAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCCGACTT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0001 a0006c0013t0001	a0006c0013t0001g0031 a0006c0013t0001g0031	1	170	0.0059	38	c.354 others(55): Show c.3540+816_3540+817insTGTAGAGAGGCCGACTTAGGGGCGCCGT GTACCGAGAC	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137818933	G G	TAGGGGCG others(31): Show TAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGATTG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03041.hp2 HG02723.hp2 HG03041.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0081 a0001c0004t0001g0099 a0001c0004t0001g0081 a0001c0004t0001g0099	2	170	0.0118	38	c.354 others(55): Show c.3540+794_3540+795insTAGGGGCGCCGTGTACCGAGACCGTAGA GAGGCCGATT	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	25/26			chr9	TogoVar
EHMT1_chr9_137614005_137841127	137818955	C C	CGTAGAGA others(31): Show CGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	1	170	0.0059	38	c.354 others(55): Show c.3540+830_3540+831insTTGAGGGGCGCCGTGTACCGAGACTGTA GAGAGGCCGA	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137819285	G G	GTGTACCG others(31): Show GTGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCA	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0023 a0001c0002t0001g0023	1	170	0.0059	38	c.354 others(57): Show c.3540+1172_3540+1173insTTGAGGGGCGCCATGTACCGAGACCG TAGAGAGGCCGA	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137819399	G G	ATGTACCG others(31): Show ATGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCG	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0120 a0001c0004t0001g0120	1	170	0.0059	38	c.354 others(57): Show c.3540+1260_3540+1261insATGTACCGAGACCGTAGAGAGGCCGA CTGAGGGGCGCC	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	25/26			chr9	TogoVar
EHMT1_chr9_137614005_137841127	137819428	A A	AGGGGCGC others(31): Show AGGGGCGCCGTGTACCGAGACCGTAGAGAGGCTGAGGGG	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	170	0.0059	38	c.354 others(57): Show c.3540+1298_3540+1299insGTGTACCGAGACCGTAGAGAGGCTGA GGGGGGGGCGCC	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT2_chr6_31874759_31902698	31897168	C C	CGCATCAA others(31): Show CGCATCAACCCCCTCCCTCTCGGTAGACCCCGCATCTCT	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0053 a0002c0002t0001g0053	1	413	0.0024	38	c.43- others(51): Show c.43-217_43-180dupAGAGATGCGGGGTCTACCGAGAGGGAGGGGGT TGATGC	EHMT2	ENSG00000204371.12	transcript	ENST00000375537.9	protein_coding	1/27			chr6	TogoVar
EIF2AK1_chr7_6017247_6064175	6045733	T T	TTATATAT others(31): Show TTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03239.hp2 HG03831.hp1 others(1): Show HG02630.hp1 HG03239.hp2 HG03831.hp1 NA19085.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0199 a0002c0003t0001g0243 a0002c0003t0001g0260 others(1): Show a0002c0003t0001g0199 a0002c0003t0001g0243 a0002c0003t0001g0260 a0002c0003t0001g0270	4	418	0.0096	38	c.630 others(53): Show c.630+337_630+338insTATATATATATATATATATATATATATATA TATATATA	EIF2AK1	ENSG00000086232.13	transcript	ENST00000199389.11	protein_coding	6/14			chr7	TogoVar
EIF2AK1_chr7_6017247_6064175	6056613	A A	AAAAAAAA others(31): Show AAAAAAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0022 a0001c0001t0003g0022	1	418	0.0024	38	c.119 others(55): Show c.119-1910_119-1909insATATATATATATATATATATATTTTTTT TTTTTTTTTT	EIF2AK1	ENSG00000086232.13	transcript	ENST00000199389.11	protein_coding	1/14			chr7	TogoVar
EIF2AK1_chr7_6017247_6064175	6056613	A A	AAAAAAAA others(31): Show AAAAAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0324 a0001c0001t0007g0324	1	418	0.0024	38	c.119 others(55): Show c.119-1910_119-1909insATATATATATATATATATATATATTTTT TTTTTTTTTT	EIF2AK1	ENSG00000086232.13	transcript	ENST00000199389.11	protein_coding	1/14			chr7	TogoVar
EIF2AK1_chr7_6017247_6064175	6056613	A A	AAAAAAAA others(31): Show AAAAAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 NA18747.hp2 NA19030.hp2 HG00140.hp2 NA18747.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0014 a0001c0001t0003 a0001c0001t0007 a0001c0001t0014	a0001c0001t0003g0135 a0001c0001t0007g0322 a0001c0001t0014g0053 a0001c0001t0003g0135 a0001c0001t0007g0322 a0001c0001t0014g0053	3	418	0.0072	38	c.119 others(55): Show c.119-1910_119-1909insATATATATATATATATATATATATATTT TTTTTTTTTT	EIF2AK1	ENSG00000086232.13	transcript	ENST00000199389.11	protein_coding	1/14			chr7	TogoVar
EIF2AK1_chr7_6017247_6064175	6056613	A A	AAAAAAAA others(31): Show AAAAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0048 a0001c0001t0003g0048	1	418	0.0024	38	c.119 others(55): Show c.119-1910_119-1909insATATATATATATATATATATATATATAT ATTTTTTTTT	EIF2AK1	ENSG00000086232.13	transcript	ENST00000199389.11	protein_coding	1/14			chr7	TogoVar
EIF2AK1_chr7_6017247_6064175	6056613	A A	AAAAAATA others(31): Show AAAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0042 a0001c0001t0003g0042	1	418	0.0024	38	c.119 others(55): Show c.119-1910_119-1909insATATATATATATATATATATATATATAT ATATATTTTT	EIF2AK1	ENSG00000086232.13	transcript	ENST00000199389.11	protein_coding	1/14			chr7	TogoVar
EIF2AK1_chr7_6017247_6064175	6056628	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0041 a0001c0001t0003g0041	1	418	0.0024	38	c.119 others(55): Show c.119-1925_119-1924insCATATATATATATATATATATATATATA TATATATATA	EIF2AK1	ENSG00000086232.13	transcript	ENST00000199389.11	protein_coding	1/14			chr7	TogoVar
EIF2AK4_chr15_39929115_40040591	40036661	C C	CCCATATA others(31): Show CCCATATAGCCTTCAACACACAGACACTCTCACTTATCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0186 a0001c0001t0003g0186	1	368	0.0027	38	c.15 others(49): Show c.1577_*1578insCCATATAGCCTTCAACACACAGACACTCTCACTT ATCA	EIF2AK4	ENSG00000128829.12	transcript	ENST00000263791.10	protein_coding		1071		chr15	TogoVar
EIF3A_chr10_119028670_119085817	119052368	T T	TTGTGTGT others(31): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00733.hp1 HG01261.hp1 others(8): Show HG00621.hp1 HG00733.hp1 HG01261.hp1 HG02004.hp1 HG02970.hp2 HG03098.hp2 HG03710.hp1 HG03942.hp1 NA18957.hp1 NA19067.hp1 NA19087.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0008 a0001c0001 a0005c0008	a0001c0001t0002 a0001c0001t0003 a0001c0001t0016 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0016 a0005c0008t0002	a0001c0001t0002g0055 a0001c0001t0002g0060 a0001c0001t0002g0091 others(8): Show a0001c0001t0002g0055 a0001c0001t0002g0060 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0100 a0001c0001t0002g0104 a0001c0001t0002g0116 a0001c0001t0002g0121 a0001c0001t0003g0062 a0001c0001t0016g0112 a0005c0008t0002g0070	11	350	0.0314	38	c.219 others(57): Show c.2197-1048_2197-1047insCACACACACACACACACACACACACA CACACACACACA	EIF3A	ENSG00000107581.14	transcript	ENST00000369144.8	protein_coding	14/21			chr10	TogoVar
EIF3F_chr11_7982337_8006852	7988142	T T	TCCATGTC others(31): Show TCCATGTCAGAATCAATCAATCCCATTGACTCTTTCCAG	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	394	0.0025	38	c.364 others(53): Show c.364+426_364+427insCCATGTCAGAATCAATCAATCCCATTGACT CTTTCCAG	EIF3F	ENSG00000175390.15	transcript	ENST00000651655.1	protein_coding	1/7			chr11	TogoVar
EIF3G_chr19_10110014_10124899	10121621	G G	GCAACCTC others(31): Show GCAACCTCTGCCTTCCGGGTTCTAGTGATTCTCCTGCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	1	458	0.0022	38	c.-17 others(49): Show c.-1763_-1762insAGGCAGGAGAATCACTAGAACCCGGAAGGCAGAG GTTG	EIF3G	ENSG00000130811.12	transcript	ENST00000253108.9	protein_coding		1723		chr19	TogoVar
EIF4EBP2_chr10_70399145_70433618	70407627	G G	GTACAGGT others(31): Show GTACAGGTTGATGAGATGTGTTAAGGCGGGAGATGGGGC	intron_variant intron_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0258 a0001c0001t0017g0258	1	422	0.0024	38	c.145 others(55): Show c.145+3081_145+3082insTACAGGTTGATGAGATGTGTTAAGGCGG GAGATGGGGC	EIF4EBP2	ENSG00000148730.7	transcript	ENST00000373218.5	protein_coding	1/2			chr10	TogoVar
EIF4ENIF1_chr22_31434367_31494842	31464699	A A	AAAAAAAA others(31): Show AAAAAAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01257.hp2 HG02280.hp1 HG00140.hp2 HG01257.hp2 HG02280.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0288 a0001c0003t0001g0291 a0001c0003t0001g0333 a0001c0003t0001g0288 a0001c0003t0001g0291 a0001c0003t0001g0333	3	366	0.0082	38	c.299 others(53): Show c.299-733_299-732insATATATATATATATATATATATTTTTTTTT TTTTTTTT	EIF4ENIF1	ENSG00000184708.18	transcript	ENST00000330125.10	protein_coding	4/18			chr22	TogoVar
EIF4ENIF1_chr22_31434367_31494842	31464699	A A	AAAAAAAA others(31): Show AAAAAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0317 a0001c0001t0001g0317	1	366	0.0027	38	c.299 others(53): Show c.299-733_299-732insATATATATATATATATATATATATATTTTT TTTTTTTT	EIF4ENIF1	ENSG00000184708.18	transcript	ENST00000330125.10	protein_coding	4/18			chr22	TogoVar
EIF4ENIF1_chr22_31434367_31494842	31464699	A A	AAAAAAAA others(31): Show AAAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03516.hp1 NA18945.hp1 HG03516.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0336 a0001c0003t0001g0352 a0001c0001t0001g0336 a0001c0003t0001g0352	2	366	0.0055	38	c.299 others(53): Show c.299-733_299-732insATATATATATATATATATATATATATATTT TTTTTTTT	EIF4ENIF1	ENSG00000184708.18	transcript	ENST00000330125.10	protein_coding	4/18			chr22	TogoVar
EIPR1_chr2_3183970_3382818	3184622	A A	ACAGCCCC others(31): Show ACAGCCCCTCCACCACCCCACGCGCAGGGGTGTCCAGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG03453.hp1 HG03579.hp2 others(7): Show HG00544.hp2 HG03453.hp1 HG03579.hp2 NA18950.hp2 NA18979.hp1 NA18995.hp2 NA19012.hp1 NA19064.hp2 NA19085.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0034 a0001c0001t0001g0109 a0001c0001t0001g0111 others(7): Show a0001c0001t0001g0034 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0002g0158 a0001c0001t0003g0143 a0001c0001t0003g0228 a0001c0001t0003g0230 a0001c0001t0003g0241 a0001c0001t0003g0243 a0001c0001t0003g0244	10	250	0.0400	38	c.47 others(49): Show c.4711_*4712insCACTGGACACCCCTGCGCGTGGGGTGGTGGAGGG GCTG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding		4347		chr2	TogoVar
EIPR1_chr2_3183970_3382818	3184834	C C	CGCAGGGG others(31): Show CGCAGGGGTGTCCAGTGCAGCCCCTCCACCACCCCACGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	250	0.0040	38	c.44 others(49): Show c.4499_*4500insACGTGGGGTGGTGGAGGGGCTGCACTGGACACCC CTGC	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding		4135		chr2	TogoVar
EIPR1_chr2_3183970_3382818	3184984	C C	CGCGCAGG others(31): Show CGCGCAGGGGTGTCCAGTGCAGCCCCTCCACCACCCCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	250	0.0040	38	c.43 others(49): Show c.4349_*4350insATGGGGTGGTGGAGGGGCTGCACTGGACACCCCT GCGC	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding		3985		chr2	TogoVar
EIPR1_chr2_3183970_3382818	3265091	G G	GAATTTAG others(31): Show GAATTTAGTCTGAAAATCTGGTGGGTACGAGGTGAGTTC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00323.hp1 others(164): Show HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00544.hp2 HG00621.hp2 HG00639.hp2 HG00642.hp2 HG00733.hp2 HG00735.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02698.hp2 HG02717.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG04115.hp1 HG04228.hp2 HG06807.hp2 NA18747.hp1 NA18906.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18957.hp2 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18995.hp1 NA18999.hp1 NA19004.hp2 NA19005.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19064.hp1 NA19066.hp2 NA19079.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0004t0001 a0001c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0014 others(164): Show a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0024 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0102 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0156 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0188 a0001c0001t0001g0194 a0001c0001t0001g0197 a0001c0001t0001g0210 a0001c0001t0001g0213 a0001c0001t0001g0219 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0010 a0001c0001t0002g0013 a0001c0001t0002g0027 a0001c0001t0002g0045 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0069 a0001c0001t0002g0077 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0106 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0115 a0001c0001t0002g0132 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0149 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0158 a0001c0001t0002g0163 a0001c0001t0002g0166 a0001c0001t0002g0168 a0001c0001t0002g0174 a0001c0001t0002g0185 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0195 a0001c0001t0002g0214 a0001c0001t0002g0220 a0001c0001t0003g0131 a0001c0001t0003g0150 a0001c0001t0004g0026 a0001c0001t0004g0050 a0001c0001t0004g0107 a0001c0001t0004g0135 a0001c0001t0004g0136 a0001c0001t0004g0137 a0001c0001t0004g0138 a0001c0001t0004g0162 a0001c0001t0004g0173 a0001c0001t0006g0177 a0001c0001t0006g0182 a0001c0001t0006g0184 a0001c0001t0007g0249 a0001c0001t0007g0250 a0001c0001t0008g0076 a0001c0001t0009g0248 a0001c0002t0001g0092 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0002g0020 a0001c0002t0002g0116 a0001c0002t0002g0118 a0001c0002t0002g0124 a0001c0002t0002g0142 a0001c0002t0002g0181 a0001c0002t0005g0078 a0001c0002t0005g0093 a0001c0002t0005g0094 a0001c0004t0001g0074 a0001c0005t0001g0104	167	250	0.6680	38	c.260 others(55): Show c.260-7674_260-7637dupGAACTCACCTCGTACCCACCAGATTTTC AGACTAAATT	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3265091	G G	GAATTTAG others(31): Show GAATTTAGTCTGATAATCTGGTGGGTACGAGGTGAGTTC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03516.hp2 HG02886.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0105 a0001c0001t0001g0101 a0001c0001t0001g0105	2	250	0.0080	38	c.260 others(55): Show c.260-7637_260-7636insGAACTCACCTCGTACCCACCAGATTATC AGACTAAATT	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3285658	A A	ATGTCTCC others(31): Show ATGTCTCCGGGACCCTCGCACGGAGCAGAAGTCACCGAC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01346.hp2 HG02647.hp2 others(1): Show HG00735.hp2 HG01346.hp2 HG02647.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0051 others(1): Show a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0051 a0001c0001t0004g0107	4	250	0.0160	38	c.260 others(57): Show c.260-28241_260-28204dupGTCGGTGACTTCTGCTCCGTGCGAGG GTCCCGGAGACA	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3331347	G G	GAGCAGAG others(31): Show GAGCAGAGGCAGGTGTGTATACACCCATGAGATGGTGTC	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	250	0.0040	38	c.259 others(55): Show c.259+6669_259+6670insGACACCATCTCATGGGTGTATACACACC TGCCTCTGCT	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3331613	G G	GAGCAGAG others(31): Show GAGCAGAGGCAGGTGTGTATACACTCATGAGATGGTGTC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	250	0.0040	38	c.259 others(55): Show c.259+6366_259+6403dupGACACCATCTCATGAGTGTATACACACC TGCCTCTGCT	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3331613	G G	GAGCAGAG others(31): Show GAGCAGAGGCAGGTGTGTATACACTCATGAGATGGTTTC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0104 a0001c0005t0001g0104	1	250	0.0040	38	c.259 others(55): Show c.259+6403_259+6404insGAAACCATCTCATGAGTGTATACACACC TGCCTCTGCT	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3331917	C C	CAGCAGAG others(31): Show CAGCAGAGGCAGGTGTGTATACACTCATGAGATGGTGTG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02257.hp1 HG02647.hp2 others(6): Show HG00639.hp1 HG02257.hp1 HG02647.hp2 HG02965.hp1 HG03139.hp2 HG03831.hp1 HG03834.hp1 NA18964.hp2 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0148 others(6): Show a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0148 a0001c0001t0001g0164 a0001c0001t0001g0188 a0001c0001t0002g0132 a0001c0001t0002g0140 a0001c0001t0003g0223 a0001c0001t0004g0050	9	250	0.0360	38	c.259 others(55): Show c.259+6099_259+6100insCACACCATCTCATGAGTGTATACACACC TGCCTCTGCT	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3331955	C C	CAGCAGAG others(31): Show CAGCAGAGGCAGGTGTGTATACACTCATGAGATGGTGTG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00738.hp2 HG01106.hp2 others(2): Show HG00140.hp1 HG00738.hp2 HG01106.hp2 HG02970.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0049 a0001c0001t0001g0210 a0001c0001t0001g0227 others(2): Show a0001c0001t0001g0049 a0001c0001t0001g0210 a0001c0001t0001g0227 a0001c0001t0002g0208 a0001c0001t0003g0217	5	250	0.0200	38	c.259 others(55): Show c.259+6061_259+6062insCACACCATCTCATGAGTGTATACACACC TGCCTCTGCT	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3332014	C C	CACTCATG others(31): Show CACTCATGAGATGGTGTCAGCAGAGGCAGGTGTGTATAT	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03540.hp1 HG06807.hp1 others(3): Show HG03492.hp2 HG03540.hp1 HG06807.hp1 NA18963.hp1 NA18971.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0167 a0001c0001t0001g0178 a0001c0001t0002g0027 others(3): Show a0001c0001t0001g0167 a0001c0001t0001g0178 a0001c0001t0002g0027 a0001c0001t0002g0155 a0001c0001t0002g0183 a0001c0001t0002g0195	6	250	0.0240	38	c.259 others(55): Show c.259+6002_259+6003insATATACACACCTGCCTCTGCTGACACCA TCTCATGAGT	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3332057	A A	ATGAGATG others(31): Show ATGAGATGGTGTCAGCAGAGGCAGGTGTGTATACACTCC	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	250	0.0040	38	c.259 others(55): Show c.259+5959_259+5960insGGAGTGTATACACACCTGCCTCTGCTGA CACCATCTCA	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3332069	C C	CAGCAGAG others(31): Show CAGCAGAGGCAGGTGTGTATACACTCATGAGATGGTGTG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	250	0.0040	38	c.259 others(55): Show c.259+5947_259+5948insCACACCATCTCATGAGTGTATACACACC TGCCTCTGCT	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
ELAPOR1_chr1_109109115_109211781	109113451	A A	AGAGAGAG others(31): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGGAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0031 a0001c0001t0005g0031	1	230	0.0044	38	c.-73 others(47): Show c.-733_-732insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGGA GT	ELAPOR1	ENSG00000116299.17	transcript	ENST00000369939.8	protein_coding		663		chr1	TogoVar
ELAVL1_chr19_7953573_8010641	7957359	G G	GAAAGAAA others(31): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG01928.hp1 HG02027.hp1 HG01106.hp2 HG01928.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0010 a0001c0001t0002 a0001c0001t0007 a0001c0001t0010	a0001c0001t0002g0006 a0001c0001t0007g0156 a0001c0001t0010g0194 a0001c0001t0002g0006 a0001c0001t0007g0156 a0001c0001t0010g0194	3	276	0.0109	38	c.61 others(49): Show c.6123_*6124insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTT	ELAVL1	ENSG00000066044.15	transcript	ENST00000407627.7	protein_coding		1213		chr19	TogoVar
ELK4_chr1_205602943_205637011	205608074	C C	CTGCATTA others(31): Show CTGCATTATACAAAGCAAATTCCTCTGTCAGTTCTTACA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0217 a0001c0001t0047g0217	1	424	0.0024	38	c.84 others(49): Show c.8434_*8471dupTGTAAGAACTGACAGAGGAATTTGCTTTGTATAA TGCA	ELK4	ENSG00000158711.14	transcript	ENST00000357992.9	protein_coding	5/5	8471		chr1	TogoVar
ELK4_chr1_205602943_205637011	205631786	A A	AGCCCGCC others(31): Show AGCCCGCCGGGTGCCCGCAGAGGGACGGGAGGAAAGGAC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0052 a0001c0001t0036g0052	1	424	0.0024	38	c.-16 others(47): Show c.-165_-164insGTCCTTTCCTCCCGTCCCTCTGCGGGCACCCGGCGG GC	ELK4	ENSG00000158711.14	transcript	ENST00000357992.9	protein_coding	1/5	7905		chr1	TogoVar
ELL_chr19_18437663_18527070	18454840	C C	CAAAAAAA others(31): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0221 a0003c0006t0001g0221	1	244	0.0041	38	c.870 others(55): Show c.870-3193_870-3192insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	ELL	ENSG00000105656.13	transcript	ENST00000262809.9	protein_coding	6/11			chr19	TogoVar
ELMO1_chr7_36847906_37453864	37161905	A A	AATATATA others(31): Show AATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02896.hp1 HG03130.hp1 others(1): Show HG02027.hp2 HG02896.hp1 HG03130.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0013 a0001c0001t0001 a0001c0001t0004 a0001c0001t0013	a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0004g0043 others(1): Show a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0004g0043 a0001c0001t0013g0078	4	92	0.0435	38	c.108 others(59): Show c.1087-28672_1087-28671insATATATATATATATATATATATAT ATATATATATATAT	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	13/21			chr7	TogoVar
ELMO2_chr20_46361050_46411615	46365995	T T	TTCACCAT others(31): Show TTCACCATTGGGCAGGGGGCAAGTACAGACAAACAGCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	312	0.0032	38	c.13 others(49): Show c.1364_*1365insCAGCTGTTTGTCTGTACTTGCCCCCTGCCCAATG GTGA	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding		54		chr20	TogoVar
ELMO2_chr20_46361050_46411615	46411193	G G	GGGGCGGG others(31): Show GGGGCGGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	312	0.0032	38	c.-47 others(49): Show c.-4772_-4771insACACACACACACACACACACACACACACACCCCC GCCC	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding		4579		chr20	TogoVar
ELMO2_chr20_46361050_46411615	46411193	G G	GGGGGGCG others(31): Show GGGGGGCGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02155.hp1 HG02559.hp2 HG02155.hp1 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0123 a0001c0001t0002g0194 a0001c0001t0001g0123 a0001c0001t0002g0194	2	312	0.0064	38	c.-47 others(49): Show c.-4772_-4771insACACACACACACACACACACACACACACACCCGC CCCC	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding		4579		chr20	TogoVar
ELOVL2_chr6_10975759_11049305	11043467	A A	AACACACA others(31): Show AACACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18987.hp1 NA18979.hp1 NA18987.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0033 a0001c0001t0001g0034	2	380	0.0053	38	c.3+7 others(49): Show c.3+760_3+761insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT	ELOVL2	ENSG00000197977.4	transcript	ENST00000354666.4	protein_coding	1/7			chr6	TogoVar
ELP4_chr11_31504767_31795324	31668675	C C	CATGTGTG others(31): Show CATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0074 a0001c0001t0074	a0001c0001t0074g0169 a0001c0001t0074g0169	1	270	0.0037	38	c.114 others(59): Show c.1143+18454_1143+18455insATGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGT	ELP4	ENSG00000109911.19	transcript	ENST00000640961.2	protein_coding	9/9			chr11	TogoVar

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