Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ECSCR_chr5_139443560_139467743	139446461	TTCCTTTT others(9): Show TTCCTTTTCTTTCTTTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 HG02922.hp2 HG03225.hp1 HG01175.hp2 HG02922.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0060 a0001c0001t0001g0103 a0001c0001t0001g0020 a0001c0001t0001g0060 a0001c0001t0001g0103	3	369	0.0081	-16	c.24 others(27): Show c.2423_*2438delGAAAGAAAGAAAAGGA	ECSCR	ENSG00000249751.4	transcript	ENST00000618155.3	protein_coding		2098		chr5	TogoVar
ECSCR_chr5_139443560_139467743	139446465	TTTTCTTT others(9): Show TTTTCTTTCTTTCTTTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00408.hp2 others(24): Show HG00140.hp1 HG00323.hp1 HG00408.hp2 HG00609.hp1 HG01069.hp1 HG01071.hp2 HG01074.hp2 HG01256.hp2 HG01358.hp1 HG01934.hp1 HG02559.hp1 HG02615.hp1 HG02615.hp2 HG02809.hp2 HG03453.hp2 HG03471.hp2 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18955.hp2 NA18971.hp2 NA18981.hp1 NA18990.hp1 NA19043.hp2 NA19079.hp2 NA19082.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(16): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0021 a0001c0001t0001g0032 a0001c0001t0001g0051 a0001c0001t0001g0057 a0001c0001t0001g0087 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0119 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0152	27	369	0.0732	-16	c.24 others(27): Show c.2419_*2434delGAAAGAAAGAAAGAAA	ECSCR	ENSG00000249751.4	transcript	ENST00000618155.3	protein_coding		2094		chr5	TogoVar
ECSIT_chr19_11500929_11534134	11519973	AAAAAAAA others(9): Show AAAAAAAAAAAAAGAAG	A A	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	312	0.0032	-16	c.-23 others(31): Show c.-23-796_-23-781delCTTCTTTTTTTTTTTT	ECSIT	ENSG00000130159.15	transcript	ENST00000270517.12	protein_coding	1/7			chr19	TogoVar
ECT2L_chr6_138791087_138909070	138847355	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0292 a0001c0003t0005g0292	1	326	0.0031	-16	c.903 others(31): Show c.903+696_903+711delTTTTTTTTTTTTTTTT	ECT2L	ENSG00000203734.13	transcript	ENST00000541398.7	protein_coding	8/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
ECT2_chr3_172745726_172826474	172758470	CACACACA others(9): Show CACACACACACACACAG	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02723.hp2 HG03130.hp1 others(1): Show HG01884.hp1 HG02723.hp2 HG03130.hp1 NA20300.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0008 a0003c0004t0008	a0003c0004t0008g0111 a0003c0004t0008g0112 a0003c0004t0008g0113 others(1): Show a0003c0004t0008g0111 a0003c0004t0008g0112 a0003c0004t0008g0113 a0003c0004t0008g0114	4	318	0.0126	-16	c.487 others(31): Show c.487-494_487-479delGACACACACACACACA	ECT2	ENSG00000114346.14	transcript	ENST00000392692.8	protein_coding	5/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
EDARADD_chr1_236389286_236489930	236405874	CTTCTTTC others(9): Show CTTCTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG03225.hp2 NA18522.hp1 HG03225.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0016 a0001c0001t0012 a0001c0001t0016	a0001c0001t0012g0116 a0001c0001t0016g0291 a0001c0001t0012g0116 a0001c0001t0016g0291	2	294	0.0068	-16	c.62- others(31): Show c.62-3305_62-3290delTTCTTTCTTTCTTTCT	EDARADD	ENSG00000186197.15	transcript	ENST00000334232.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
EDARADD_chr1_236389286_236489930	236447166	CTCCCTCT others(9): Show CTCCCTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01256.hp1 HG01256.hp2 others(11): Show HG00733.hp2 HG01256.hp1 HG01256.hp2 HG02129.hp1 HG02602.hp1 HG02683.hp1 HG04204.hp1 HG04228.hp1 HG04228.hp2 NA18906.hp2 NA18948.hp1 NA18967.hp1 NA19070.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0001t0027 a0001c0003t0001 a0001c0003t0002 a0001c0004t0005 a0002c0002t0001 a0002c0002t0003	a0001c0001t0001g0166 a0001c0001t0001g0172 a0001c0001t0001g0198 others(11): Show a0001c0001t0001g0166 a0001c0001t0001g0172 a0001c0001t0001g0198 a0001c0001t0001g0216 a0001c0001t0002g0084 a0001c0001t0002g0098 a0001c0001t0012g0119 a0001c0001t0027g0188 a0001c0003t0001g0034 a0001c0003t0002g0038 a0001c0004t0005g0191 a0002c0002t0001g0268 a0002c0002t0001g0269 a0002c0002t0003g0266	14	294	0.0476	-16	c.219 others(35): Show c.219+19719_219+19734delCCTCTTTCTTTCTTTC	EDARADD	ENSG00000186197.15	transcript	ENST00000334232.9	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
EDARADD_chr1_236389286_236489930	236447170	CTCTTTCT others(9): Show CTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0003 a0001c0001t0008g0003	1	294	0.0034	-16	c.219 others(35): Show c.219+19759_219+19774delTTTCTTTCTTTCTTTC	EDARADD	ENSG00000186197.15	transcript	ENST00000334232.9	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
EDARADD_chr1_236389286_236489930	236480096	CATATATA others(9): Show CATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0012 a0001c0003t0001g0012	1	294	0.0034	-16	c.266 others(33): Show c.266-2146_266-2131delATATATATATATATAT	EDARADD	ENSG00000186197.15	transcript	ENST00000334232.9	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
EDA_chrX_69611113_70044472	69674102	CCTATCTA others(9): Show CCTATCTATCTATCTAT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02055.hp1 HG02257.hp2 others(6): Show HG00735.hp2 HG02055.hp1 HG02257.hp2 HG02486.hp1 HG02886.hp1 HG02896.hp2 HG03540.hp2 NA19043.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0007 a0001c0001t0014 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0014 a0001c0002t0001	a0001c0001t0001g0028 a0001c0001t0001g0032 a0001c0001t0001g0033 others(6): Show a0001c0001t0001g0028 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0007g0035 a0001c0001t0014g0027 a0001c0002t0001g0030 a0001c0002t0001g0031	9	226	0.0398	-16	c.396 others(35): Show c.396+57428_396+57443delTATCTATCTATCTATC	EDA	ENSG00000158813.18	transcript	ENST00000374552.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
EDA_chrX_69611113_70044472	69810257	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00639.hp1 others(38): Show HG00099.hp2 HG00280.hp1 HG00639.hp1 HG00673.hp1 HG00738.hp1 HG01071.hp1 HG01074.hp1 HG01081.hp2 HG01106.hp1 HG01123.hp1 HG01168.hp1 HG01361.hp1 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01981.hp2 HG02109.hp1 HG02559.hp1 HG02572.hp1 HG02615.hp2 HG02622.hp1 HG02647.hp1 HG02723.hp1 HG02735.hp1 HG03486.hp1 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG03942.hp1 HG04184.hp1 HG04204.hp1 NA18906.hp1 NA18906.hp2 NA18952.hp1 NA18965.hp1 NA18967.hp1 NA18995.hp1 NA18998.hp1 NA19072.hp1 NA19082.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0015	a0001c0001t0001g0001 a0001c0001t0001g0046 a0001c0001t0001g0056 others(37): Show a0001c0001t0001g0001 a0001c0001t0001g0046 a0001c0001t0001g0056 a0001c0001t0001g0113 a0001c0001t0001g0118 a0001c0001t0001g0124 a0001c0001t0001g0129 a0001c0001t0001g0133 a0001c0001t0001g0173 a0001c0001t0001g0177 a0001c0001t0001g0187 a0001c0001t0001g0201 a0001c0001t0001g0204 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0219 a0001c0001t0001g0222 a0001c0001t0001g0225 a0001c0001t0002g0038 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0053 a0001c0001t0002g0070 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0170 a0001c0001t0002g0224 a0001c0001t0003g0112 a0001c0001t0003g0115 a0001c0001t0003g0121 a0001c0001t0003g0200 a0001c0001t0003g0218 a0001c0001t0007g0052 a0001c0001t0008g0184 a0001c0001t0009g0216 a0001c0001t0015g0119	41	226	0.1814	-16	c.397 others(37): Show c.397-146739_397-146724delAAAAAAAAAAAAAAAA	EDA	ENSG00000158813.18	transcript	ENST00000374552.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
EDA_chrX_69611113_70044472	69910370	AGAGAGTG others(9): Show AGAGAGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02486.hp1 HG03041.hp2 others(1): Show HG00735.hp2 HG02486.hp1 HG03041.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0106 others(1): Show a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0106 a0001c0001t0008g0107	4	226	0.0177	-16	c.397 others(35): Show c.397-46655_397-46640delAGAGTGTGTGTGTGTG	EDA	ENSG00000158813.18	transcript	ENST00000374552.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
EDA_chrX_69611113_70044472	69910372	AGAGTGTG others(9): Show AGAGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	226	0.0044	-16	c.397 others(35): Show c.397-46653_397-46638delAGTGTGTGTGTGTGTG	EDA	ENSG00000158813.18	transcript	ENST00000374552.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
EDA_chrX_69611113_70044472	69910374	AGTGTGTG others(9): Show AGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0052 a0001c0001t0007g0052	1	226	0.0044	-16	c.397 others(35): Show c.397-46616_397-46601delGTGTGTGTGTGTGTGT	EDA	ENSG00000158813.18	transcript	ENST00000374552.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
EDA_chrX_69611113_70044472	69978318	TAAAAAAA others(9): Show TAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp2 HG01069.hp1 others(72): Show HG00423.hp2 HG00438.hp2 HG01069.hp1 HG01071.hp2 HG01109.hp1 HG01123.hp2 HG01192.hp1 HG01256.hp1 HG01361.hp2 HG01433.hp1 HG01934.hp1 HG01952.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02056.hp1 HG02071.hp1 HG02080.hp1 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02148.hp2 HG02257.hp1 HG02602.hp1 HG02735.hp1 HG02965.hp1 HG03490.hp1 HG03491.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG04184.hp1 HG04199.hp1 HG04204.hp1 NA18612.hp1 NA18747.hp1 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18951.hp1 NA18952.hp1 NA18953.hp1 NA18955.hp1 NA18959.hp1 NA18962.hp1 NA18965.hp1 NA18967.hp1 NA18970.hp1 NA18971.hp1 NA18977.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18985.hp1 NA18988.hp1 NA18990.hp1 NA18993.hp1 NA18998.hp1 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19056.hp1 NA19058.hp1 NA19060.hp1 NA19062.hp1 NA19070.hp1 NA19079.hp1 NA19082.hp1 NA19083.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0015 a0001c0001t0021 a0001c0001t0022	a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0020 others(72): Show a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0063 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0078 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0092 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0159 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0177 a0001c0001t0001g0186 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0198 a0001c0001t0001g0215 a0001c0001t0001g0222 a0001c0001t0002g0004 a0001c0001t0002g0008 a0001c0001t0002g0037 a0001c0001t0002g0045 a0001c0001t0002g0047 a0001c0001t0002g0049 a0001c0001t0002g0053 a0001c0001t0002g0064 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0075 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0089 a0001c0001t0002g0095 a0001c0001t0002g0149 a0001c0001t0002g0155 a0001c0001t0002g0164 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0171 a0001c0001t0002g0224 a0001c0001t0003g0023 a0001c0001t0003g0062 a0001c0001t0003g0066 a0001c0001t0003g0079 a0001c0001t0003g0080 a0001c0001t0003g0083 a0001c0001t0003g0087 a0001c0001t0003g0093 a0001c0001t0003g0096 a0001c0001t0003g0153 a0001c0001t0003g0157 a0001c0001t0003g0195 a0001c0001t0015g0119 a0001c0001t0021g0099 a0001c0001t0022g0100	75	226	0.3319	-16	c.502 others(35): Show c.502+21206_502+21221delAAAAAAAAAAAAAAAA	EDA	ENSG00000158813.18	transcript	ENST00000374552.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
EDC3_chr15_74625558_74701024	74700576	GGTGTGTG others(9): Show GGTGTGTGTGTGTGTGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG03130.hp1 HG01109.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0003 a0001c0001t0001g0004	2	286	0.0070	-16	c.-47 others(27): Show c.-4731_-4716delACACACACACACACAC	EDC3	ENSG00000179151.13	transcript	ENST00000315127.9	protein_coding		4553		chr15	TogoVar
EDEM1_chr3_5182707_5224958	5221847	CTGTGTGT others(9): Show CTGTGTGTGTGTGTGTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG03579.hp2 NA19030.hp2 others(1): Show HG02109.hp1 HG03579.hp2 NA19030.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0030 a0001c0001t0039 others(1): Show a0001c0001t0006 a0001c0001t0030 a0001c0001t0039 a0001c0001t0047	a0001c0001t0006g0088 a0001c0001t0030g0244 a0001c0001t0039g0242 others(1): Show a0001c0001t0006g0088 a0001c0001t0030g0244 a0001c0001t0039g0242 a0001c0001t0047g0086	4	374	0.0107	-16	c.59 others(27): Show c.5930_*5945delTGTGTGTGTGTGTGTG	EDEM1	ENSG00000134109.11	transcript	ENST00000256497.9	protein_coding		1890		chr3	TogoVar
EDEM3_chr1_184685237_184759858	184744249	AATATATA others(9): Show AATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02970.hp2 HG02723.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0140 a0001c0001t0001g0141	2	324	0.0062	-16	c.204 others(33): Show c.204+5282_204+5297delATATATATATATATAT	EDEM3	ENSG00000116406.20	transcript	ENST00000318130.13	protein_coding	2/19			chr1	TogoVar
EDIL3_chr5_83935554_84389880	84070606	AGTGTGTG others(9): Show AGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03195.hp2 HG02280.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0040 a0001c0001t0006g0041 a0001c0001t0006g0040 a0001c0001t0006g0041	2	158	0.0127	-16	c.652 others(33): Show c.652-4016_652-4001delACACACACACACACAC	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	6/10			chr5	TogoVar
EDIL3_chr5_83935554_84389880	84132372	ATTATATA others(9): Show ATTATATATAATATATT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00438.hp2 HG00558.hp1 others(31): Show HG00140.hp2 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG01070.hp1 HG01109.hp1 HG01168.hp1 HG01175.hp2 HG01243.hp2 HG01256.hp2 HG01258.hp1 HG01361.hp2 HG01433.hp1 HG01515.hp1 HG02015.hp2 HG02080.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02523.hp1 HG02615.hp1 HG02683.hp2 HG02970.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03492.hp2 HG03654.hp1 HG03669.hp2 HG03704.hp1 HG03831.hp2 HG03927.hp1 NA18957.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0020 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0007 a0001c0002t0014	a0001c0001t0001g0012 a0001c0001t0001g0028 a0001c0001t0001g0035 others(31): Show a0001c0001t0001g0012 a0001c0001t0001g0028 a0001c0001t0001g0035 a0001c0001t0001g0056 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0097 a0001c0001t0001g0123 a0001c0001t0002g0003 a0001c0001t0002g0014 a0001c0001t0002g0046 a0001c0001t0002g0053 a0001c0001t0002g0075 a0001c0001t0003g0006 a0001c0001t0003g0063 a0001c0001t0003g0089 a0001c0001t0003g0095 a0001c0001t0003g0103 a0001c0001t0003g0104 a0001c0001t0003g0136 a0001c0001t0004g0017 a0001c0001t0006g0040 a0001c0001t0006g0041 a0001c0001t0020g0158 a0001c0002t0001g0102 a0001c0002t0001g0129 a0001c0002t0001g0146 a0001c0002t0002g0093 a0001c0002t0002g0099 a0001c0002t0003g0064 a0001c0002t0003g0101 a0001c0002t0004g0062 a0001c0002t0007g0057 a0001c0002t0014g0068	34	158	0.2152	-16	c.469 others(33): Show c.469+4853_469+4868delAATATATTATATATAA	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	5/10			chr5	TogoVar
EDIL3_chr5_83935554_84389880	84141952	GATCTATC others(9): Show GATCTATCTATCTATCT	G G	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	158	0.0063	-16	c.356 others(33): Show c.356-4614_356-4599delAGATAGATAGATAGAT	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	4/10			chr5	TogoVar
EDIL3_chr5_83935554_84389880	84160814	CCTTTCCC others(9): Show CCTTTCCCTTTCCTTTT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01891.hp1 HG00738.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0094 a0001c0001t0001g0045 a0001c0001t0001g0094	2	158	0.0127	-16	c.355 others(35): Show c.355+19563_355+19578delAAAAGGAAAGGGAAAG	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	4/10			chr5	TogoVar
EDIL3_chr5_83935554_84389880	84190577	GTGTATAT others(9): Show GTGTATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0158 a0001c0001t0020g0158	1	158	0.0063	-16	c.227 others(35): Show c.227-10072_227-10057delTATATATATATATACA	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	3/10			chr5	TogoVar
EDIL3_chr5_83935554_84389880	84249377	TTCTATCT others(9): Show TTCTATCTATCTATCTA	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03041.hp1 HG02451.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0053 a0001c0002t0001g0144 a0001c0001t0002g0053 a0001c0002t0001g0144	2	158	0.0127	-16	c.196 others(33): Show c.196+4691_196+4706delTAGATAGATAGATAGA	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	2/10			chr5	TogoVar
EDIL3_chr5_83935554_84389880	84262659	GTTTTTTT others(9): Show GTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	158	0.0063	-16	c.68- others(31): Show c.68-8463_68-8448delAAAAAAAAAAAAAAAA	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	1/10			chr5	TogoVar
EDIL3_chr5_83935554_84389880	84271416	CAAATAAA others(9): Show CAAATAAATAAATAAAT	C C	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0043 a0001c0003t0003g0043	1	158	0.0063	-16	c.68- others(33): Show c.68-17220_68-17205delATTTATTTATTTATTT	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	1/10			chr5	TogoVar
EDIL3_chr5_83935554_84389880	84303808	CTGTGTGT others(9): Show CTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp1 HG00558.hp2 others(23): Show HG00140.hp2 HG00423.hp1 HG00558.hp2 HG00642.hp1 HG01123.hp2 HG01168.hp2 HG01261.hp1 HG01433.hp2 HG02015.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02280.hp2 HG02451.hp2 HG02523.hp2 HG03704.hp2 HG03831.hp1 NA18944.hp1 NA18946.hp2 NA18949.hp1 NA18957.hp2 NA18969.hp2 NA19058.hp1 NA19062.hp2 NA19083.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0005 a0001c0001 a0001c0002 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0017 a0001c0002t0001 a0001c0002t0008 a0003c0005t0015	a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0019 others(23): Show a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0028 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0010 a0001c0001t0002g0014 a0001c0001t0002g0018 a0001c0001t0002g0025 a0001c0001t0002g0027 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0003g0006 a0001c0001t0003g0009 a0001c0001t0004g0004 a0001c0001t0004g0020 a0001c0001t0004g0022 a0001c0001t0009g0016 a0001c0001t0017g0015 a0001c0002t0001g0011 a0001c0002t0008g0005 a0003c0005t0015g0026	26	158	0.1646	-16	c.68- others(33): Show c.68-49612_68-49597delCACACACACACACACA	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	1/10			chr5	TogoVar
EEA1_chr12_92765637_92934295	92898058	ATATGCCT others(9): Show ATATGCCTATATACAAG	A A	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0137 a0001c0002t0007g0137	1	244	0.0041	-16	c.25- others(31): Show c.25-6353_25-6338delCTTGTATATAGGCATA	EEA1	ENSG00000102189.17	transcript	ENST00000322349.13	protein_coding	1/28			chr12	TogoVar
EED_chr11_86239753_86283810	86254048	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01192.hp1 HG02080.hp2 others(22): Show HG00741.hp1 HG01192.hp1 HG02080.hp2 HG02572.hp2 HG02622.hp2 HG02647.hp1 HG02886.hp2 HG02895.hp1 HG02922.hp2 HG03139.hp1 HG03486.hp2 HG04184.hp2 NA18959.hp2 NA18967.hp1 NA18969.hp1 NA18970.hp1 NA18978.hp1 NA18980.hp1 NA18995.hp1 NA18997.hp2 NA19000.hp1 NA19002.hp2 NA19054.hp2 NA19086.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0001 a0001c0001t0001 a0002c0004t0001	a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 others(15): Show a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0002c0004t0001g0014	25	392	0.0638	-16	c.361 others(33): Show c.361-1162_361-1147delAAAAAAAAAAAAAAAA	EED	ENSG00000074266.23	transcript	ENST00000263360.11	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
EED_chr11_86239753_86283810	86283498	GTTTTTAT others(9): Show GTTTTTATTTCACTGCT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	392	0.0026	-16	c.49 others(27): Show c.4974_*4989delTTTTTATTTCACTGCT	EED	ENSG00000074266.23	transcript	ENST00000263360.11	protein_coding		4689		chr11	TogoVar
EEF1A2_chr20_63483014_63504083	63491866	GTGGATGG others(9): Show GTGGATGGATAGATGGA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00323.hp1 others(101): Show HG00099.hp1 HG00280.hp2 HG00323.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00621.hp1 HG00642.hp1 HG00673.hp2 HG01069.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01123.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp2 HG01257.hp2 HG01258.hp1 HG01358.hp2 HG01496.hp1 HG01516.hp2 HG01517.hp2 HG01978.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02056.hp1 HG02074.hp2 HG02129.hp1 HG02129.hp2 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02602.hp2 HG02683.hp1 HG02735.hp1 HG02735.hp2 HG03017.hp2 HG03491.hp2 HG03492.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18942.hp2 NA18944.hp1 NA18945.hp2 NA18948.hp2 NA18950.hp1 NA18951.hp1 NA18952.hp1 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18963.hp2 NA18964.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18979.hp2 NA18980.hp2 NA18985.hp1 NA18990.hp2 NA18994.hp1 NA19000.hp1 NA19005.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19057.hp1 NA19065.hp1 NA19067.hp1 NA19077.hp2 NA19081.hp1 NA19085.hp2 NA19086.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19091.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0010 a0001c0011	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(7): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0003t0007 a0001c0004t0001 a0001c0006t0001 a0001c0006t0002 a0001c0010t0001 a0001c0011t0001	a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0002t0001g0006 others(53): Show a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0002t0001g0006 a0001c0002t0001g0011 a0001c0002t0001g0012 a0001c0002t0001g0057 a0001c0002t0001g0088 a0001c0002t0001g0090 a0001c0002t0001g0097 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0173 a0001c0002t0001g0201 a0001c0002t0002g0202 a0001c0003t0001g0001 a0001c0003t0001g0003 a0001c0003t0001g0017 a0001c0003t0001g0027 a0001c0003t0001g0053 a0001c0003t0001g0055 a0001c0003t0001g0056 a0001c0003t0001g0058 a0001c0003t0001g0095 a0001c0003t0001g0114 a0001c0003t0001g0172 a0001c0003t0001g0174 a0001c0003t0001g0175 a0001c0003t0001g0177 a0001c0003t0001g0182 a0001c0003t0001g0183 a0001c0003t0001g0186 a0001c0003t0001g0187 a0001c0003t0001g0188 a0001c0003t0001g0189 a0001c0003t0001g0190 a0001c0003t0001g0191 a0001c0003t0001g0192 a0001c0003t0001g0193 a0001c0003t0001g0194 a0001c0003t0001g0195 a0001c0003t0001g0197 a0001c0003t0001g0198 a0001c0003t0001g0205 a0001c0003t0001g0206 a0001c0003t0007g0196 a0001c0004t0001g0140 a0001c0006t0001g0034 a0001c0006t0001g0035 a0001c0006t0001g0069 a0001c0006t0001g0081 a0001c0006t0001g0083 a0001c0006t0001g0087 a0001c0006t0002g0072 a0001c0010t0001g0070 a0001c0010t0001g0080 a0001c0011t0001g0178	104	374	0.2781	-16	c.773 others(33): Show c.773-1147_773-1132delTCCATCTATCCATCCA	EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding	5/7			chr20	TogoVar
EEF1A2_chr20_63483014_63504083	63492744	TGATGGAC others(9): Show TGATGGACAGAAGGATG	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0143 a0001c0005t0001g0143	1	374	0.0027	-16	c.772 others(31): Show c.772+377_772+392delCATCCTTCTGTCCATC	EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding	5/7			chr20	TogoVar
EEF1A2_chr20_63483014_63504083	63492872	AGATGGAT others(9): Show AGATGGATGGATCGATG	A A	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	374	0.0027	-16	c.772 others(31): Show c.772+249_772+264delCATCGATCCATCCATC	EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding	5/7			chr20	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124780327	AAATACTA others(9): Show AAATACTATAGAGATGT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00438.hp1 others(60): Show HG00280.hp1 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00609.hp1 HG01069.hp2 HG01074.hp1 HG01175.hp1 HG01255.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01952.hp2 HG01975.hp2 HG02015.hp2 HG02071.hp2 HG02080.hp2 HG02083.hp2 HG02135.hp2 HG02155.hp1 HG02451.hp1 HG02602.hp1 HG02683.hp1 HG03139.hp1 HG03486.hp1 HG03927.hp1 HG04184.hp2 HG04228.hp1 NA18612.hp1 NA18942.hp1 NA18943.hp2 NA18945.hp2 NA18951.hp2 NA18953.hp1 NA18957.hp2 NA18960.hp1 NA18969.hp1 NA18970.hp1 NA18974.hp2 NA18977.hp2 NA18978.hp2 NA18980.hp2 NA18982.hp2 NA18985.hp2 NA18986.hp2 NA18988.hp1 NA18989.hp1 NA18990.hp1 NA18991.hp1 NA18998.hp2 NA18999.hp1 NA19058.hp1 NA19062.hp1 NA19063.hp2 NA19064.hp2 NA19066.hp1 NA19070.hp1 NA19077.hp1 NA19078.hp1 NA19082.hp1 NA19085.hp2 NA19088.hp2 NA19091.hp2	a0001 a0005 a0007 a0001 a0005 a0007	a0001c0001 a0005c0007 a0007c0003 a0001c0001 a0005c0007 a0007c0003	a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 others(5): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0005c0007t0002 a0007c0003t0002	a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0003 others(54): Show a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0275 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0286 a0001c0001t0002g0288 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0001t0005g0005 a0001c0001t0005g0260 a0001c0001t0005g0276 a0001c0001t0005g0281 a0001c0001t0005g0282 a0001c0001t0005g0283 a0001c0001t0005g0284 a0001c0001t0005g0287 a0001c0001t0005g0290 a0001c0001t0005g0291 a0001c0001t0005g0296 a0001c0001t0005g0301 a0001c0001t0005g0325 a0001c0001t0005g0347 a0001c0001t0006g0128 a0001c0001t0006g0274 a0001c0001t0010g0006 a0001c0001t0013g0285 a0001c0001t0014g0289 a0005c0007t0002g0259 a0007c0003t0002g0015	63	358	0.1760	-16	c.292 others(33): Show c.292-5561_292-5546delACATCTCTATAGTATT	EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding	3/6			chr10	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124795595	ATTTTTTT others(9): Show ATTTTTTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0041 a0001c0001t0002g0041	1	358	0.0028	-16	c.-37 others(27): Show c.-3778_-3763delAAAAAAAAAAAAAAAA	EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding		3709		chr10	TogoVar
EEF1AKMT3_chr12_57767614_57787541	57784916	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0007 a0001c0002t0001g0007	1	362	0.0028	-16	c.42 others(27): Show c.4271_*4286delTTTTTTTTTTTTTTTT	EEF1AKMT3	ENSG00000123427.17	transcript	ENST00000300209.13	protein_coding		2376		chr12	TogoVar
EEF1AKMT4_chr3_184244672_184263759	184263637	AAGAGAGA others(9): Show AAGAGAGAGAGAGAGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	378	0.0027	-16	c.50 others(27): Show c.5063_*5078delAGAGAGAGAGAGAGAG	EEF1AKMT4	ENSG00000284753.2	transcript	ENST00000324557.9	protein_coding		4879		chr3	TogoVar
EEFSEC_chr3_128148481_128413646	128150782	ATATATAT others(9): Show ATATATATTCTATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG01070.hp2 HG01074.hp2 others(49): Show HG00140.hp2 HG01070.hp2 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01175.hp2 HG01192.hp2 HG01361.hp2 HG01496.hp2 HG01952.hp2 HG01978.hp1 HG01981.hp2 HG02109.hp2 HG02145.hp2 HG02165.hp2 HG02258.hp1 HG02273.hp2 HG02523.hp1 HG02572.hp1 HG02602.hp2 HG02615.hp1 HG02630.hp2 HG02698.hp2 HG03041.hp1 HG03041.hp2 HG03490.hp2 HG03704.hp2 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp2 NA18948.hp2 NA18952.hp2 NA18960.hp1 NA18969.hp2 NA18971.hp2 NA18980.hp2 NA18982.hp2 NA18995.hp1 NA18998.hp2 NA19011.hp2 NA19054.hp2 NA19055.hp2 NA19060.hp2 NA19065.hp2 NA19067.hp2 NA19078.hp2 NA20300.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0006 a0002c0005 others(1): Show a0001c0001 a0001c0006 a0002c0005 a0004c0011	a0001c0001t0001 a0001c0001t0004 a0001c0006t0001 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0006t0001 a0002c0005t0003 a0004c0011t0001	a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 others(49): Show a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0103 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0004g0078 a0001c0006t0001g0223 a0001c0006t0001g0236 a0002c0005t0003g0047 a0002c0005t0003g0048 a0004c0011t0001g0251	52	272	0.1912	-16	c.-27 others(27): Show c.-2725_-2710delTATATATTCTATATAT	EEFSEC	ENSG00000132394.11	transcript	ENST00000254730.11	protein_coding		2698		chr3	TogoVar
EEIG1_chr9_127935582_127985989	127965106	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp1 HG00597.hp1 others(145): Show HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00639.hp1 HG00639.hp2 HG00673.hp2 HG00741.hp1 HG01069.hp2 HG01081.hp2 HG01099.hp1 HG01109.hp1 HG01167.hp1 HG01167.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01934.hp1 HG01952.hp2 HG01975.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02056.hp1 HG02074.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02683.hp1 HG02698.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03239.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03669.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03942.hp2 HG04184.hp2 HG04199.hp1 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp1 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18947.hp2 NA18951.hp2 NA18967.hp1 NA18968.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18982.hp1 NA18986.hp1 NA18988.hp1 NA18994.hp1 NA18998.hp2 NA18999.hp2 NA19003.hp1 NA19004.hp1 NA19005.hp1 NA19012.hp1 NA19057.hp1 NA19060.hp2 NA19066.hp1 NA19074.hp1 NA19083.hp2 NA19084.hp2 NA19091.hp1 NA19240.hp2 NA20129.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0010 a0001c0001t0011 others(11): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0029 a0001c0001t0032 a0001c0007t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0007 others(91): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0010g0201 a0001c0001t0010g0220 a0001c0001t0011g0031 a0001c0001t0012g0046 a0001c0001t0020g0166 a0001c0001t0021g0230 a0001c0001t0022g0155 a0001c0001t0023g0156 a0001c0001t0024g0227 a0001c0001t0025g0199 a0001c0001t0026g0154 a0001c0001t0029g0182 a0001c0001t0032g0239 a0001c0007t0001g0204	148	342	0.4328	-16	c.147 others(35): Show c.147-11197_147-11182delTTTTTTTTTTTTTTTT	EEIG1	ENSG00000167106.12	transcript	ENST00000373095.6	protein_coding	1/10			chr9	TogoVar
EEIG1_chr9_127935582_127985989	127965130	AAAAAAAA others(9): Show AAAAAAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	342	0.0029	-16	c.147 others(35): Show c.147-11221_147-11206delGTTTTTTTTTTTTTTT	EEIG1	ENSG00000167106.12	transcript	ENST00000373095.6	protein_coding	1/10			chr9	TogoVar
EEIG2_chr1_108555100_108644322	108625774	CTGTGTGT others(9): Show CTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG02055.hp2 HG03453.hp1 others(1): Show HG01975.hp1 HG02055.hp2 HG03453.hp1 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0076 a0001c0001t0001g0102 a0001c0001t0001g0103 others(1): Show a0001c0001t0001g0076 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0003g0260	4	272	0.0147	-16	c.556 others(33): Show c.556+1065_556+1080delTGTGTGTGTGTGTGTG	EEIG2	ENSG00000162636.16	transcript	ENST00000370035.8	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
EEPD1_chr7_36148254_36306538	36150960	TGTGTGTG others(9): Show TGTGTGTGTGTGTGTGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG03453.hp2 HG03516.hp1 HG02809.hp2 HG03453.hp2 HG03516.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0009 a0001c0001t0010 a0002c0005t0016 a0001c0001t0009 a0001c0001t0010 a0002c0005t0016	a0001c0001t0009g0331 a0001c0001t0010g0194 a0002c0005t0016g0286 a0001c0001t0009g0331 a0001c0001t0010g0194 a0002c0005t0016g0286	3	346	0.0087	-16	c.-29 others(27): Show c.-2906_-2891delGTGTGTGTGTGTGTGG	EEPD1	ENSG00000122547.12	transcript	ENST00000242108.9	protein_coding		2293		chr7	TogoVar
EEPD1_chr7_36148254_36306538	36253350	GGGACAGC others(9): Show GGGACAGCCTAACATAA	G G	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0181 a0001c0001t0003g0181	1	346	0.0029	-16	c.930 others(35): Show c.930+14317_930+14332delACAGCCTAACATAAGG	EEPD1	ENSG00000122547.12	transcript	ENST00000242108.9	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
EEPD1_chr7_36148254_36306538	36273129	TACACACA others(9): Show TACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0016 a0002c0003t0016	a0002c0003t0016g0097 a0002c0003t0016g0097	1	346	0.0029	-16	c.931 others(33): Show c.931-7969_931-7954delACACACACACACACAC	EEPD1	ENSG00000122547.12	transcript	ENST00000242108.9	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
EEPD1_chr7_36148254_36306538	36305326	GCTCCCAT others(9): Show GCTCCCATGCTCCCCCT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0069 a0001c0001t0069	a0001c0001t0069g0312 a0001c0001t0069g0312	1	346	0.0029	-16	c.61 others(27): Show c.6121_*6136delCTCCCATGCTCCCCCT	EEPD1	ENSG00000122547.12	transcript	ENST00000242108.9	protein_coding		3789		chr7	TogoVar
EFCAB10_chr7_105560124_105586493	105570226	AAAAAAAA others(9): Show AAAAAAAAAAAAAAAAT	A A	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0108 a0001c0007t0003g0108	1	428	0.0023	-16	c.107 others(31): Show c.107-671_107-656delATTTTTTTTTTTTTTT	EFCAB10	ENSG00000185055.11	transcript	ENST00000480514.6	protein_coding	1/4			chr7	TogoVar
EFCAB11_chr14_89789669_89959730	89835585	CGTGTGTG others(9): Show CGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03017.hp2 HG02258.hp1 HG03017.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0042 a0001c0003t0012 a0001c0002t0042 a0001c0003t0012	a0001c0002t0042g0227 a0001c0003t0012g0016 a0001c0002t0042g0227 a0001c0003t0012g0016	2	284	0.0070	-16	c.411 others(35): Show c.411-38277_411-38262delACACACACACACACAC	EFCAB11	ENSG00000140025.16	transcript	ENST00000316738.12	protein_coding	5/5			chr14	TogoVar
EFCAB11_chr14_89789669_89959730	89910598	AATACATA others(9): Show AATACATACATACATAC	A A	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01243.hp2 HG03491.hp1 HG01175.hp1 HG01243.hp2 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0005 a0001c0002t0010 a0001c0001t0002 a0001c0001t0005 a0001c0002t0010	a0001c0001t0002g0136 a0001c0001t0005g0135 a0001c0002t0010g0208 a0001c0001t0002g0136 a0001c0001t0005g0135 a0001c0002t0010g0208	3	284	0.0106	-16	c.410 others(35): Show c.410+20927_410+20942delGTATGTATGTATGTAT	EFCAB11	ENSG00000140025.16	transcript	ENST00000316738.12	protein_coding	5/5			chr14	TogoVar
EFCAB11_chr14_89789669_89959730	89917053	CGTGTGTG others(9): Show CGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0031 a0001c0002t0031	a0001c0002t0031g0026 a0001c0002t0031g0026	1	284	0.0035	-16	c.410 others(35): Show c.410+14472_410+14487delACACACACACACACAC	EFCAB11	ENSG00000140025.16	transcript	ENST00000316738.12	protein_coding	5/5			chr14	TogoVar
EFCAB11_chr14_89789669_89959730	89917082	GTGTGTGT others(9): Show GTGTGTGTGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03540.hp2 HG03486.hp2 HG03540.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0004 a0001c0004t0023 a0001c0003t0004 a0001c0004t0023	a0001c0003t0004g0004 a0001c0004t0023g0274 a0001c0003t0004g0004 a0001c0004t0023g0274	2	284	0.0070	-16	c.410 others(35): Show c.410+14443_410+14458delTACACACACACACACA	EFCAB11	ENSG00000140025.16	transcript	ENST00000316738.12	protein_coding	5/5			chr14	TogoVar

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