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	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	status	chr	external
EFEMP2_chr11_65861441_65877800	65872788	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG01891.hp1 HG02809.hp1 HG03139.hp1 others(2): Show HG01891.hp1 HG02809.hp1 HG03139.hp1 HG03471.hp2 NA19043.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0003 a0003c0006t0003 a0001c0001t0003 a0003c0006t0003	a0001c0001t0003g0016 a0001c0001t0003g0043 a0003c0006t0003g0044 a0001c0001t0003g0016 a0001c0001t0003g0043 a0003c0006t0003g0044	5	374	0.0134	c.-11 others(4): Show c.-113C>T	EFEMP2	ENSG00000172638.13	transcript	ENST00000307998.11	protein_coding	1/11		chr11	TogoVar
EFHC2_chrX_44142872_44348672	44343633	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0221 a0001c0001t0024g0221	1	221	0.0045	c.-45 others(3): Show c.-45C>T	EFHC2	ENSG00000183690.13	transcript	ENST00000420999.2	protein_coding	1/15		chrX	TogoVar
EFHD1_chr2_232628604_232687776	232633690	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02109.hp2 HG02622.hp1 HG02630.hp1 others(3): Show HG02109.hp2 HG02622.hp1 HG02630.hp1 HG03098.hp1 HG03486.hp1 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0009 a0001c0001t0020 a0001c0001t0021 others(1): Show a0001c0001t0009 a0001c0001t0020 a0001c0001t0021 a0002c0002t0022	a0001c0001t0009g0271 a0001c0001t0009g0273 a0001c0001t0009g0274 others(3): Show a0001c0001t0009g0271 a0001c0001t0009g0273 a0001c0001t0009g0274 a0001c0001t0020g0276 a0001c0001t0021g0272 a0002c0002t0022g0263	6	382	0.0157	c.-15 others(3): Show c.-15C>T	EFHD1	ENSG00000115468.13	transcript	ENST00000264059.8	protein_coding	1/4		chr2	TogoVar
EFL1_chr15_82125233_82267734	82262631	C C	G G	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0004 a0001c0001t0003g0004	1	368	0.0027	c.-37 others(3): Show c.-37G>C	EFL1	ENSG00000140598.16	transcript	ENST00000268206.12	protein_coding	1/20		chr15	TogoVar
EFR3B_chr2_25037076_25164135	25042104	G G	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0052 a0001c0002t0052	a0001c0002t0052g0180 a0001c0002t0052g0180	1	306	0.0033	c.-20 others(4): Show c.-209G>T	EFR3B	ENSG00000084710.14	transcript	ENST00000403714.8	protein_coding	1/23		chr2	TogoVar
EGFLAM_chr5_38253559_38470480	38258605	A A	G G	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00280.hp2 HG01109.hp1 HG01167.hp1 others(42): Show HG00280.hp2 HG01109.hp1 HG01167.hp1 HG01243.hp1 HG01243.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG02055.hp2 HG02109.hp2 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02622.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02922.hp2 HG03041.hp1 HG03098.hp1 HG03139.hp2 HG03209.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03669.hp1 HG04199.hp2 NA18962.hp2 NA19030.hp1 NA20129.hp2 NA21309.hp2	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0006 a0008 a0010 a0012 a0013 a0014 a0024 a0027	a0001c0001 a0002c0002 a0002c0023 others(13): Show a0001c0001 a0002c0002 a0002c0023 a0003c0003 a0003c0008 a0003c0011 a0004c0004 a0006c0006 a0008c0013 a0008c0029 a0010c0012 a0012c0014 a0013c0016 a0014c0018 a0024c0035 a0027c0039	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(29): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0016 a0002c0002t0002 a0002c0002t0004 a0002c0002t0011 a0002c0002t0026 a0002c0002t0029 a0002c0023t0004 a0003c0003t0002 a0003c0003t0005 a0003c0003t0010 a0003c0003t0011 a0003c0008t0002 a0003c0008t0004 a0003c0008t0010 a0003c0011t0005 a0003c0011t0016 a0004c0004t0004 a0004c0004t0005 a0004c0004t0011 a0006c0006t0002 a0008c0013t0002 a0008c0029t0002 a0010c0012t0015 a0010c0012t0028 a0012c0014t0027 a0013c0016t0015 a0014c0018t0025 a0024c0035t0002 a0027c0039t0002	a0001c0001t0002g0112 a0001c0001t0002g0135 a0001c0001t0002g0137 others(42): Show a0001c0001t0002g0112 a0001c0001t0002g0135 a0001c0001t0002g0137 a0001c0001t0002g0144 a0001c0001t0002g0153 a0001c0001t0004g0001 a0001c0001t0004g0116 a0001c0001t0004g0130 a0001c0001t0005g0154 a0001c0001t0016g0147 a0002c0002t0002g0120 a0002c0002t0002g0142 a0002c0002t0002g0146 a0002c0002t0004g0128 a0002c0002t0011g0114 a0002c0002t0026g0129 a0002c0002t0029g0111 a0002c0023t0004g0123 a0003c0003t0002g0145 a0003c0003t0005g0109 a0003c0003t0005g0148 a0003c0003t0010g0121 a0003c0003t0010g0125 a0003c0003t0011g0110 a0003c0008t0002g0152 a0003c0008t0004g0113 a0003c0008t0010g0132 a0003c0011t0005g0115 a0003c0011t0016g0143 a0004c0004t0004g0150 a0004c0004t0005g0124 a0004c0004t0005g0127 a0004c0004t0005g0149 a0004c0004t0011g0138 a0006c0006t0002g0134 a0006c0006t0002g0151 a0008c0013t0002g0119 a0008c0029t0002g0118 a0010c0012t0015g0122 a0010c0012t0028g0117 a0012c0014t0027g0126 a0013c0016t0015g0133 a0014c0018t0025g0136 a0024c0035t0002g0131 a0027c0039t0002g0139	45	190	0.2368	c.-15 others(4): Show c.-150A>G	EGFLAM	ENSG00000164318.18	transcript	ENST00000322350.10	protein_coding	1/22		chr5	TogoVar
EGFLAM_chr5_38253559_38470480	38258629	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02280.hp2 HG02280.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0029 a0002c0002t0029	a0002c0002t0029g0111 a0002c0002t0029g0111	1	190	0.0053	c.-12 others(4): Show c.-126C>T	EGFLAM	ENSG00000164318.18	transcript	ENST00000322350.10	protein_coding	1/22		chr5	TogoVar
EGLN1_chr1_231358756_231427287	231422267	T T	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	NA18747.hp1 NA18955.hp2 NA18747.hp1 NA18955.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0016 a0002c0002t0016	a0002c0002t0016g0330 a0002c0002t0016g0331 a0002c0002t0016g0330 a0002c0002t0016g0331	2	338	0.0059	c.-37 others(4): Show c.-379A>T	EGLN1	ENSG00000135766.9	transcript	ENST00000366641.4	protein_coding	1/5		chr1	TogoVar
EGLN1_chr1_231358756_231427287	231422267	T T	G G	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02074.hp1 HG02523.hp1 HG02074.hp1 HG02523.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0015 a0002c0002t0015	a0002c0002t0015g0328 a0002c0002t0015g0329 a0002c0002t0015g0328 a0002c0002t0015g0329	2	338	0.0059	c.-37 others(4): Show c.-379A>C	EGLN1	ENSG00000135766.9	transcript	ENST00000366641.4	protein_coding	1/5		chr1	TogoVar
EGLN2_chr19_40794191_40813434	40799233	G G	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00738.hp1 HG01106.hp1 HG01175.hp2 others(2): Show HG00738.hp1 HG01106.hp1 HG01175.hp2 HG01981.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0065 a0001c0001t0003g0001 a0001c0001t0003g0065	5	420	0.0119	c.-26 others(4): Show c.-264G>T	EGLN2	ENSG00000269858.6	transcript	ENST00000303961.9	protein_coding	1/6		chr19	TogoVar
EGLN2_chr19_40794191_40813434	40800375	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG01891.hp1 HG02723.hp1 HG01891.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0017 a0001c0001t0007g0017	2	420	0.0048	c.-19 others(4): Show c.-198C>T	EGLN2	ENSG00000269858.6	transcript	ENST00000303961.9	protein_coding	2/6		chr19	TogoVar
EHD2_chr19_47708422_47748134	47713430	C C	G G	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0022 a0001c0025t0022	a0001c0025t0022g0346 a0001c0025t0022g0346	1	398	0.0025	c.-16 others(4): Show c.-164C>G	EHD2	ENSG00000024422.12	transcript	ENST00000263277.8	protein_coding	1/6		chr19	TogoVar
EI24_chr11_125564477_125589684	125569549	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0034 a0001c0002t0034	a0001c0002t0034g0076 a0001c0002t0034g0076	1	362	0.0028	c.-95 others(3): Show c.-95C>T	EI24	ENSG00000149547.15	transcript	ENST00000278903.11	protein_coding	1/11		chr11	TogoVar
EID3_chr12_104298739_104310205	104303755	G G	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0000 a0001c0001t0009g0000	1	418	0.0024	c.-18 others(4): Show c.-180G>T	EID3	ENSG00000255150.2	transcript	ENST00000527879.2	protein_coding	1/1		chr12	TogoVar
EID3_chr12_104298739_104310205	104303783	C C	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG01069.hp1 HG01071.hp2 HG01943.hp1 others(3): Show HG01069.hp1 HG01071.hp2 HG01943.hp1 HG02145.hp2 HG03654.hp2 HG04199.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0000 a0001c0002t0004g0000	6	418	0.0144	c.-15 others(4): Show c.-152C>A	EID3	ENSG00000255150.2	transcript	ENST00000527879.2	protein_coding	1/1		chr12	TogoVar
EIF1B_chr3_40304707_40317424	40309786	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00408.hp1 HG00438.hp1 HG01255.hp1 others(23): Show HG00408.hp1 HG00438.hp1 HG01255.hp1 HG01943.hp2 HG02040.hp1 HG02071.hp1 HG02074.hp2 HG02145.hp1 HG02165.hp1 HG02698.hp2 HG03490.hp2 HG03492.hp2 HG04184.hp1 HG04204.hp2 HG04228.hp1 NA18906.hp2 NA18940.hp1 NA18964.hp2 NA18975.hp2 NA18981.hp1 NA18983.hp2 NA19000.hp2 NA19003.hp2 NA19006.hp1 NA19054.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0012 a0001c0001t0003 a0001c0001t0012	a0001c0001t0003g0003 a0001c0001t0003g0007 a0001c0001t0003g0008 others(3): Show a0001c0001t0003g0003 a0001c0001t0003g0007 a0001c0001t0003g0008 a0001c0001t0003g0015 a0001c0001t0003g0017 a0001c0001t0012g0024	26	408	0.0637	c.-15 others(4): Show c.-156C>T	EIF1B	ENSG00000114784.4	transcript	ENST00000232905.4	protein_coding	1/4		chr3	TogoVar
EIF1_chr17_41683885_41697668	41688979	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG03688.hp1 HG04204.hp2 HG03688.hp1 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0001 a0001c0001t0016g0001	2	330	0.0061	c.-60 others(3): Show c.-60C>T	EIF1	ENSG00000173812.11	transcript	ENST00000469257.2	protein_coding	1/4		chr17	TogoVar
EIF2AK1_chr7_6017247_6064175	6059165	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	NA19084.hp1 NA19084.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0031 a0002c0003t0031	a0002c0003t0031g0396 a0002c0003t0031g0396	1	418	0.0024	c.-82 others(3): Show c.-82C>T	EIF2AK1	ENSG00000086232.13	transcript	ENST00000199389.11	protein_coding	1/15		chr7	TogoVar
EIF2AK2_chr2_37094210_37161980	37148927	C C	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00738.hp2 HG02055.hp2 HG02145.hp1 others(1): Show HG00738.hp2 HG02055.hp2 HG02145.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0308 a0001c0001t0013g0309 a0001c0001t0013g0310 others(1): Show a0001c0001t0013g0308 a0001c0001t0013g0309 a0001c0001t0013g0310 a0001c0001t0013g0311	4	326	0.0123	c.-87 others(3): Show c.-87G>T	EIF2AK2	ENSG00000055332.19	transcript	ENST00000233057.9	protein_coding	2/17		chr2	TogoVar
EIF3A_chr10_119028670_119085817	119080683	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0023 a0001c0002t0023	a0001c0002t0023g0324 a0001c0002t0023g0324	1	350	0.0029	c.-7C others(2): Show c.-7C>T	EIF3A	ENSG00000107581.14	transcript	ENST00000369144.8	protein_coding	1/22		chr10	TogoVar
EIF3CL_chr16_28374715_28408841	28403808	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG01106.hp1 HG02280.hp2 HG02451.hp2 others(5): Show HG01106.hp1 HG02280.hp2 HG02451.hp2 HG02647.hp1 HG02809.hp1 HG03927.hp1 NA18522.hp2 NA20129.hp2	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0012 a0003c0003 a0006c0009 a0001c0012 a0003c0003 a0006c0009	a0001c0012t0002 a0003c0003t0002 a0006c0009t0002 a0001c0012t0002 a0003c0003t0002 a0006c0009t0002	a0001c0012t0002g0009 a0003c0003t0002g0010 a0003c0003t0002g0011 others(5): Show a0001c0012t0002g0009 a0003c0003t0002g0010 a0003c0003t0002g0011 a0003c0003t0002g0012 a0003c0003t0002g0013 a0003c0003t0002g0014 a0003c0003t0002g0016 a0006c0009t0002g0015	8	172	0.0465	c.-52 others(3): Show c.-52G>A	EIF3CL	ENSG00000205609.13	transcript	ENST00000380876.5	protein_coding	1/21		chr16	TogoVar
EIF3D_chr22_36505855_36534166	36529093	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0236 a0001c0001t0004g0236	1	400	0.0025	c.-28 others(3): Show c.-28C>T	EIF3D	ENSG00000100353.18	transcript	ENST00000216190.13	protein_coding	1/15		chr22	TogoVar
EIF3G_chr19_10110014_10124899	10119869	T T	C C	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02818.hp1 HG02886.hp1 HG02818.hp1 HG02886.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0029 a0001c0002t0003g0029	2	458	0.0044	c.-10 others(3): Show c.-10A>G	EIF3G	ENSG00000130811.12	transcript	ENST00000253108.9	protein_coding	1/11		chr19	TogoVar
EIF3K_chr19_38614188_38641954	38619221	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02155.hp1 HG03490.hp1 HG03492.hp2 HG02155.hp1 HG03490.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0047 a0001c0001t0002g0222 a0001c0001t0002g0047 a0001c0001t0002g0222	3	400	0.0075	c.-48 others(3): Show c.-48C>T	EIF3K	ENSG00000178982.10	transcript	ENST00000248342.9	protein_coding	1/8		chr19	TogoVar
EIF4B_chr12_53001456_53047215	53006459	T T	C C	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG01884.hp1 HG02145.hp1 HG03225.hp1 HG01884.hp1 HG02145.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0318 a0001c0002t0009g0319 a0001c0002t0009g0341 a0001c0002t0009g0318 a0001c0002t0009g0319 a0001c0002t0009g0341	3	372	0.0081	c.-25 others(3): Show c.-25T>C	EIF4B	ENSG00000063046.18	transcript	ENST00000262056.14	protein_coding	1/15		chr12	TogoVar
EIF4E1B_chr5_176625675_176651644	176642102	A A	G G	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00280.hp2 HG00323.hp1 HG00323.hp2 others(87): Show HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00597.hp1 HG00639.hp1 HG00639.hp2 HG00733.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02148.hp1 HG02165.hp1 HG02257.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02630.hp1 HG02717.hp1 HG02735.hp1 HG02922.hp2 HG03017.hp1 HG03041.hp1 HG03139.hp2 HG03195.hp2 HG03453.hp2 HG03491.hp2 HG03492.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03927.hp1 HG03942.hp2 HG04204.hp2 NA18522.hp1 NA18940.hp1 NA18971.hp2 NA18980.hp2 NA18982.hp1 NA18988.hp1 NA18989.hp1 NA18994.hp2 NA19030.hp2 NA19084.hp1 NA20752.hp1 NA20805.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0005 others(47): Show a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0010 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0017 a0001c0001t0002g0034 a0001c0001t0002g0040 a0001c0001t0002g0045 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0059 a0001c0001t0002g0091 a0001c0001t0002g0100 a0001c0001t0002g0117 a0001c0001t0002g0122 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0146 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0158 a0001c0001t0002g0178 a0001c0001t0002g0181 a0001c0001t0002g0194 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0209 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0226 a0001c0001t0002g0228 a0001c0001t0002g0232 a0001c0001t0002g0248 a0001c0001t0002g0250 a0001c0001t0005g0015	90	422	0.2133	c.-14 others(4): Show c.-142A>G	EIF4E1B	ENSG00000175766.13	transcript	ENST00000318682.11	protein_coding	2/9		chr5	TogoVar
EIF4EBP2_chr10_70399145_70433618	70404160	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0067 a0001c0002t0067	a0001c0002t0067g0044 a0001c0002t0067g0044	1	422	0.0024	c.-24 others(4): Show c.-242C>T	EIF4EBP2	ENSG00000148730.7	transcript	ENST00000373218.5	protein_coding	1/3		chr10	TogoVar
EIF4E_chr4_98874276_98934133	98929133	C C	G G	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02258.hp1 HG02486.hp2 HG02559.hp1 others(5): Show HG02258.hp1 HG02486.hp2 HG02559.hp1 HG02622.hp2 HG03225.hp2 NA19030.hp2 NA19240.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0173 a0001c0001t0004g0185 a0001c0001t0004g0186 others(5): Show a0001c0001t0004g0173 a0001c0001t0004g0185 a0001c0001t0004g0186 a0001c0001t0004g0187 a0001c0001t0004g0188 a0001c0001t0004g0189 a0001c0001t0004g0190 a0001c0001t0004g0191	8	300	0.0267	c.-21 others(3): Show c.-21G>C	EIF4E	ENSG00000151247.13	transcript	ENST00000450253.7	protein_coding	1/7		chr4	TogoVar
EIF4G2_chr11_10792054_10813926	10808884	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0084 a0001c0001t0007g0084	1	412	0.0024	c.-26 others(4): Show c.-266C>T	EIF4G2	ENSG00000110321.19	transcript	ENST00000339995.11	protein_coding	1/22	WARNING_TRANSCRIPT_NO_START_CODON	chr11	TogoVar
ELAVL2_chr9_23685104_23831240	23826019	A A	C C	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00408.hp2 HG00642.hp1 HG01081.hp1 others(39): Show HG00408.hp2 HG00642.hp1 HG01081.hp1 HG01243.hp1 HG01346.hp1 HG01884.hp1 HG01928.hp1 HG02027.hp1 HG02055.hp1 HG02055.hp2 HG02129.hp1 HG02258.hp2 HG02300.hp2 HG02602.hp2 HG02622.hp2 HG02717.hp2 HG02922.hp2 HG03209.hp1 HG03225.hp2 HG03471.hp2 HG03704.hp1 HG03704.hp2 NA18906.hp1 NA18943.hp1 NA18947.hp2 NA18953.hp1 NA18955.hp1 NA18962.hp1 NA18988.hp2 NA18990.hp1 NA19000.hp1 NA19011.hp1 NA19011.hp2 NA19057.hp2 NA19062.hp2 NA19065.hp1 NA19068.hp1 NA19077.hp1 NA19081.hp2 NA19082.hp1 NA20905.hp1 NA20905.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0008 a0001c0001 a0001c0002 a0004c0008	a0001c0001t0002 a0001c0001t0010 a0001c0001t0011 others(2): Show a0001c0001t0002 a0001c0001t0010 a0001c0001t0011 a0001c0002t0002 a0004c0008t0014	a0001c0001t0002g0009 a0001c0001t0002g0012 a0001c0001t0002g0033 others(39): Show a0001c0001t0002g0009 a0001c0001t0002g0012 a0001c0001t0002g0033 a0001c0001t0002g0036 a0001c0001t0010g0006 a0001c0001t0010g0008 a0001c0001t0011g0005 a0001c0001t0011g0007 a0001c0002t0002g0004 a0001c0002t0002g0010 a0001c0002t0002g0011 a0001c0002t0002g0013 a0001c0002t0002g0014 a0001c0002t0002g0015 a0001c0002t0002g0016 a0001c0002t0002g0017 a0001c0002t0002g0018 a0001c0002t0002g0019 a0001c0002t0002g0020 a0001c0002t0002g0021 a0001c0002t0002g0022 a0001c0002t0002g0023 a0001c0002t0002g0024 a0001c0002t0002g0025 a0001c0002t0002g0026 a0001c0002t0002g0027 a0001c0002t0002g0028 a0001c0002t0002g0029 a0001c0002t0002g0030 a0001c0002t0002g0031 a0001c0002t0002g0032 a0001c0002t0002g0034 a0001c0002t0002g0035 a0001c0002t0002g0037 a0001c0002t0002g0038 a0001c0002t0002g0039 a0001c0002t0002g0040 a0001c0002t0002g0041 a0001c0002t0002g0043 a0001c0002t0002g0044 a0001c0002t0002g0045 a0004c0008t0014g0042	42	352	0.1193	c.-22 others(4): Show c.-229T>G	ELAVL2	ENSG00000107105.15	transcript	ENST00000397312.7	protein_coding	1/7		chr9	TogoVar
ELAVL2_chr9_23685104_23831240	23826172	T T	C C	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0352 a0001c0001t0023g0352	1	352	0.0028	c.-38 others(4): Show c.-382A>G	ELAVL2	ENSG00000107105.15	transcript	ENST00000397312.7	protein_coding	1/7		chr9	TogoVar
ELFN1_chr7_1665277_1752946	1688121	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0064 a0001c0001t0064	a0001c0001t0064g0006 a0001c0001t0064g0006	1	302	0.0033	c.-48 others(4): Show c.-485C>T	ELFN1	ENSG00000225968.8	transcript	ENST00000424383.5	protein_coding	2/4		chr7	TogoVar
ELFN2_chr22_37362960_37432479	37417885	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0097 a0001c0001t0097	a0001c0001t0097g0324 a0001c0001t0097g0324	1	334	0.0030	c.-57 others(4): Show c.-579C>T	ELFN2	ENSG00000166897.16	transcript	ENST00000402918.7	protein_coding	2/3		chr22	TogoVar
ELK4_chr1_205602943_205637011	205631776	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	NA18978.hp1 NA18986.hp1 NA18978.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0047 a0001c0001t0034g0047	2	424	0.0047	c.-15 others(4): Show c.-154C>T	ELK4	ENSG00000158711.14	transcript	ENST00000357992.9	protein_coding	1/5		chr1	TogoVar
ELK4_chr1_205602943_205637011	205631981	C C	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0035 a0001c0002t0035	a0001c0002t0035g0049 a0001c0002t0035g0049	1	424	0.0024	c.-35 others(4): Show c.-359G>T	ELK4	ENSG00000158711.14	transcript	ENST00000357992.9	protein_coding	1/5		chr1	TogoVar
ELK4_chr1_205602943_205637011	205631985	T T	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0035 a0001c0002t0035	a0001c0002t0035g0049 a0001c0002t0035g0049	1	424	0.0024	c.-36 others(4): Show c.-363A>T	ELK4	ENSG00000158711.14	transcript	ENST00000357992.9	protein_coding	1/5		chr1	TogoVar
ELK4_chr1_205602943_205637011	205631990	C C	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0035 a0001c0002t0035	a0001c0002t0035g0049 a0001c0002t0035g0049	1	424	0.0024	c.-36 others(4): Show c.-368G>T	ELK4	ENSG00000158711.14	transcript	ENST00000357992.9	protein_coding	1/5		chr1	TogoVar
ELK4_chr1_205602943_205637011	205631991	T T	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00099.hp2 HG00408.hp2 HG00423.hp2 others(69): Show HG00099.hp2 HG00408.hp2 HG00423.hp2 HG00544.hp2 HG00609.hp1 HG00621.hp2 HG00642.hp1 HG01081.hp1 HG01258.hp1 HG01934.hp2 HG01975.hp2 HG01981.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02056.hp1 HG02071.hp1 HG02080.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02258.hp1 HG02293.hp2 HG02922.hp2 HG03195.hp1 HG03225.hp2 HG03491.hp1 HG03654.hp2 HG03669.hp2 HG03834.hp1 HG03927.hp1 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG04228.hp2 NA18612.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp2 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18948.hp2 NA18950.hp2 NA18953.hp1 NA18959.hp2 NA18964.hp1 NA18965.hp1 NA18967.hp2 NA18968.hp2 NA18971.hp2 NA18974.hp1 NA18977.hp1 NA18980.hp1 NA18986.hp2 NA18989.hp2 NA18995.hp2 NA18999.hp2 NA19000.hp2 NA19001.hp2 NA19002.hp2 NA19005.hp2 NA19055.hp2 NA19058.hp2 NA19062.hp1 NA19064.hp1 NA19074.hp2 NA19081.hp2 NA19086.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0076 a0001c0002t0002 others(8): Show a0001c0001t0002 a0001c0001t0076 a0001c0002t0002 a0001c0002t0014 a0001c0002t0070 a0001c0002t0071 a0001c0002t0072 a0001c0002t0073 a0001c0002t0074 a0001c0002t0075 a0001c0002t0077	a0001c0001t0002g0261 a0001c0001t0076g0252 a0001c0002t0002g0001 others(31): Show a0001c0001t0002g0261 a0001c0001t0076g0252 a0001c0002t0002g0001 a0001c0002t0002g0014 a0001c0002t0002g0022 a0001c0002t0002g0048 a0001c0002t0002g0233 a0001c0002t0002g0236 a0001c0002t0002g0237 a0001c0002t0002g0238 a0001c0002t0002g0239 a0001c0002t0002g0242 a0001c0002t0002g0243 a0001c0002t0002g0244 a0001c0002t0002g0245 a0001c0002t0002g0246 a0001c0002t0002g0247 a0001c0002t0002g0250 a0001c0002t0002g0251 a0001c0002t0002g0253 a0001c0002t0002g0254 a0001c0002t0002g0255 a0001c0002t0002g0257 a0001c0002t0002g0260 a0001c0002t0014g0023 a0001c0002t0014g0248 a0001c0002t0014g0256 a0001c0002t0070g0234 a0001c0002t0071g0240 a0001c0002t0072g0235 a0001c0002t0073g0249 a0001c0002t0074g0258 a0001c0002t0075g0241 a0001c0002t0077g0259	72	424	0.1698	c.-36 others(4): Show c.-369A>T	ELK4	ENSG00000158711.14	transcript	ENST00000357992.9	protein_coding	1/5		chr1	TogoVar
ELMO2_chr20_46361050_46411615	46406580	C C	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0247 a0001c0001t0013g0247	1	312	0.0032	c.-15 others(4): Show c.-158G>T	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding	1/22		chr20	TogoVar
ELMOD1_chr11_107586147_107671779	107591304	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0034 a0001c0002t0034	a0001c0002t0034g0163 a0001c0002t0034g0163	1	342	0.0029	c.-19 others(4): Show c.-191C>T	ELMOD1	ENSG00000110675.13	transcript	ENST00000265840.12	protein_coding	1/12		chr11	TogoVar
ELMOD3_chr2_85349769_85396748	85354789	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG03041.hp2 HG03041.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0015 a0005c0005t0015	a0005c0005t0015g0060 a0005c0005t0015g0060	1	386	0.0026	c.-41 others(4): Show c.-412C>T	ELMOD3	ENSG00000115459.18	transcript	ENST00000409013.8	protein_coding	1/14		chr2	TogoVar
ELMOD3_chr2_85349769_85396748	85354823	T T	G G	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00408.hp2 HG00423.hp2 HG00741.hp1 others(26): Show HG00408.hp2 HG00423.hp2 HG00741.hp1 HG01167.hp1 HG01169.hp1 HG01884.hp1 HG02056.hp2 HG02080.hp2 HG02083.hp2 HG02132.hp2 HG02155.hp1 HG02257.hp1 HG02258.hp1 HG03041.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp1 NA18949.hp2 NA18954.hp2 NA18956.hp2 NA18967.hp2 NA18968.hp1 NA18972.hp1 NA18973.hp1 NA18979.hp1 NA18990.hp1 NA18991.hp2 NA19010.hp2 NA19072.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0008	a0001c0001 a0002c0002 a0005c0005 others(1): Show a0001c0001 a0002c0002 a0005c0005 a0008c0013	a0001c0001t0002 a0001c0001t0004 a0002c0002t0002 others(3): Show a0001c0001t0002 a0001c0001t0004 a0002c0002t0002 a0005c0005t0002 a0005c0005t0015 a0008c0013t0002	a0001c0001t0002g0059 a0001c0001t0002g0062 a0001c0001t0004g0063 others(26): Show a0001c0001t0002g0059 a0001c0001t0002g0062 a0001c0001t0004g0063 a0001c0001t0004g0064 a0001c0001t0004g0065 a0002c0002t0002g0024 a0002c0002t0002g0025 a0002c0002t0002g0026 a0002c0002t0002g0027 a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0030 a0002c0002t0002g0031 a0002c0002t0002g0032 a0002c0002t0002g0033 a0002c0002t0002g0034 a0002c0002t0002g0035 a0002c0002t0002g0036 a0002c0002t0002g0037 a0002c0002t0002g0038 a0002c0002t0002g0039 a0002c0002t0002g0040 a0002c0002t0002g0042 a0002c0002t0002g0043 a0002c0002t0002g0044 a0002c0002t0002g0045 a0005c0005t0002g0061 a0005c0005t0015g0060 a0008c0013t0002g0041	29	386	0.0751	c.-37 others(4): Show c.-378T>G	ELMOD3	ENSG00000115459.18	transcript	ENST00000409013.8	protein_coding	1/14		chr2	TogoVar
ELOA2_chr18_47027527_47040621	47035325	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00621.hp1 HG00621.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0018 a0002c0002t0018	a0002c0002t0018g0000 a0002c0002t0018g0000	1	448	0.0022	c.-61 others(3): Show c.-61C>T	ELOA2	ENSG00000206181.7	transcript	ENST00000332567.6	protein_coding	1/1		chr18	TogoVar
ELOF1_chr19_11548046_11564230	11559197	C C	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0060 a0001c0001t0060	a0001c0001t0060g0130 a0001c0001t0060g0130	1	412	0.0024	c.-25 others(3): Show c.-25G>T	ELOF1	ENSG00000130165.11	transcript	ENST00000252445.8	protein_coding	1/4		chr19	TogoVar
ELOVL4_chr6_79909814_79952553	79947316	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0216 a0001c0001t0024g0216	1	354	0.0028	c.-37 others(3): Show c.-37C>T	ELOVL4	ENSG00000118402.6	transcript	ENST00000369816.5	protein_coding	1/6		chr6	TogoVar
ELOVL4_chr6_79909814_79952553	79947377	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0052 a0001c0001t0012g0052	1	354	0.0028	c.-98 others(3): Show c.-98C>T	ELOVL4	ENSG00000118402.6	transcript	ENST00000369816.5	protein_coding	1/6		chr6	TogoVar
ELP1_chr9_108862517_108939124	108933966	G G	C C	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02602.hp1 HG03710.hp2 HG02602.hp1 HG03710.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0014 a0001c0015t0014	a0001c0015t0014g0263 a0001c0015t0014g0264 a0001c0015t0014g0263 a0001c0015t0014g0264	2	416	0.0048	c.-15 others(4): Show c.-158C>G	ELP1	ENSG00000070061.16	transcript	ENST00000374647.10	protein_coding	1/37		chr9	TogoVar
ELP5_chr17_7247215_7264937	7252238	C C	G G	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG01109.hp2 HG02055.hp1 HG02572.hp1 others(2): Show HG01109.hp2 HG02055.hp1 HG02572.hp1 HG03453.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0019 a0001c0001t0004g0020 a0001c0001t0004g0032 others(1): Show a0001c0001t0004g0019 a0001c0001t0004g0020 a0001c0001t0004g0032 a0001c0001t0004g0035	5	412	0.0121	c.-31 others(4): Show c.-313C>G	ELP5	ENSG00000170291.16	transcript	ENST00000396628.7	protein_coding	1/8		chr17	TogoVar
EMC10_chr19_50471507_50495871	50476524	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0172 a0001c0001t0172	a0001c0001t0172g0001 a0001c0001t0172g0001	1	352	0.0028	c.-21 others(3): Show c.-21C>T	EMC10	ENSG00000161671.17	transcript	ENST00000334976.11	protein_coding	1/7		chr19	TogoVar
EMC6_chr17_3663812_3674665	3669142	G G	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02486.hp1 HG03041.hp1 HG03139.hp1 HG02486.hp1 HG03041.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	3	414	0.0073	c.-5G others(2): Show c.-5G>T	EMC6	ENSG00000127774.7	transcript	ENST00000248378.6	protein_coding	2/2		chr17	TogoVar

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