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
EPHA4_chr2_221413027_221577304	221527829	CATGGCTA others(12): Show CATGGCTAAGGAACTGTCGG	C C	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0162 a0001c0001t0048g0162	1	294	0.0034	-19	c.824 others(38): Show c.824-26676_824-26658delCCGACAGTTCCTTAGCCAT	EPHA4	ENSG00000116106.12	transcript	ENST00000281821.7	protein_coding	3/17			chr2	TogoVar
EPHA5_chr4_65314567_65675489	65418862	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA19006.hp2 NA19079.hp1 NA19006.hp2 NA19079.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0033 a0001c0002t0001g0050 a0001c0002t0001g0033 a0001c0002t0001g0050	2	234	0.0086	-19	c.152 others(38): Show c.1527+1560_1527+1578delAAAAAAAAAAAAAAAAAAA	EPHA5	ENSG00000145242.14	transcript	ENST00000613740.5	protein_coding	6/16			chr4	TogoVar
EPHA6_chr3_96809594_97766532	97492547	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01243.hp2 HG02809.hp1 others(7): Show HG01175.hp1 HG01243.hp2 HG02809.hp1 HG02922.hp1 HG03139.hp2 HG03225.hp1 HG03540.hp1 NA19043.hp1 NA19043.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0002 a0001c0001t0004 a0001c0001t0014 others(6): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0014 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0011 a0001c0003t0018 a0001c0005t0004	a0001c0001t0002g0021 a0001c0001t0004g0071 a0001c0001t0014g0045 others(7): Show a0001c0001t0002g0021 a0001c0001t0004g0071 a0001c0001t0014g0045 a0001c0003t0002g0036 a0001c0003t0003g0012 a0001c0003t0004g0010 a0001c0003t0011g0011 a0001c0003t0018g0020 a0001c0005t0004g0046 a0001c0005t0004g0048	10	82	0.1220	-19	c.220 others(38): Show c.2200+8517_2200+8535delAAAAAAAAAAAAAAAAAAA	EPHA6	ENSG00000080224.18	transcript	ENST00000389672.10	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA6_chr3_96809594_97766532	97508984	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03486.hp1 NA21309.hp1 HG03486.hp1 NA21309.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0027 a0001c0003t0013 a0001c0003t0027	a0001c0003t0013g0001 a0001c0003t0027g0003 a0001c0003t0013g0001 a0001c0003t0027g0003	2	82	0.0244	-19	c.220 others(40): Show c.2201-23354_2201-23336delTTTTTTTTTTTTTTTTTTT	EPHA6	ENSG00000080224.18	transcript	ENST00000389672.10	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA7_chr6_93235020_93424559	93245253	GTACCTAA others(12): Show GTACCTAATAAATCCTTAAA	G G	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0015 a0001c0002t0002g0015	1	280	0.0036	-19	c.288 others(34): Show c.2882+26_2882+44delTTTAAGGATTTATTAGGTA	EPHA7	ENSG00000135333.15	transcript	ENST00000369303.9	protein_coding	16/16			chr6	TogoVar
EPHB4_chr7_100797565_100832523	100801783	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp1 NA19240.hp1 HG02738.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0018 a0001c0001 a0001c0018	a0001c0001t0005 a0001c0018t0001 a0001c0001t0005 a0001c0018t0001	a0001c0001t0005g0276 a0001c0018t0001g0229 a0001c0001t0005g0276 a0001c0018t0001g0229	2	364	0.0055	-19	c.16 others(30): Show c.1659_*1677delCTTTTTTTTTTTTTTTTTT	EPHB4	ENSG00000196411.10	transcript	ENST00000358173.8	protein_coding		781		chr7	TogoVar
EPHX4_chr1_92024985_92068538	92063405	ATAAATAT others(12): Show ATAAATATCCTGACAAATGG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00140.hp1 HG01081.hp2 HG01884.hp1 others(5): Show HG00140.hp1 HG01081.hp2 HG01884.hp1 HG02109.hp2 HG02630.hp1 HG02895.hp2 HG03471.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0124 a0001c0001t0002g0190 a0001c0001t0002g0198 others(5): Show a0001c0001t0002g0124 a0001c0001t0002g0190 a0001c0001t0002g0198 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204	8	236	0.0339	-19	c.12 others(28): Show c.122_*140delAATATCCTGACAAATGGTA	EPHX4	ENSG00000172031.7	transcript	ENST00000370383.5	protein_coding	7/7	122	INFO_REALIGN_3_PRIME	chr1	TogoVar
EPRS1_chr1_219963600_220051505	220044681	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01433.hp2 HG02004.hp2 others(4): Show HG01261.hp1 HG01433.hp2 HG02004.hp2 HG02257.hp1 HG02258.hp1 HG02630.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0005 a0001c0004t0001	a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0002g0031 others(4): Show a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0004g0008 a0001c0002t0005g0007 a0001c0004t0001g0334	7	358	0.0196	-19	c.46+ others(34): Show c.46+1643_46+1661delTTTTTTTTTTTTTTTTTTT	EPRS1	ENSG00000136628.18	transcript	ENST00000366923.8	protein_coding	1/31			chr1	TogoVar
EPSTI1_chr13_42881388_42997241	42942658	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 NA18942.hp1 NA18959.hp2 HG02615.hp2 NA18942.hp1 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0050 a0001c0002t0010 a0001c0001t0004 a0001c0001t0050 a0001c0002t0010	a0001c0001t0004g0124 a0001c0001t0050g0348 a0001c0002t0010g0214 a0001c0001t0004g0124 a0001c0001t0050g0348 a0001c0002t0010g0214	3	352	0.0085	-19	c.563 others(38): Show c.563+11271_563+11289delAAAAAAAAAAAAAAAAAAA	EPSTI1	ENSG00000133106.15	transcript	ENST00000313624.12	protein_coding	6/10			chr13	TogoVar
EPX_chr17_58187726_58210174	58203931	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0073 a0002c0005t0001g0073	1	404	0.0025	-19	c.194 others(36): Show c.1947-270_1947-252delAAAAAAAAAAAAAAAAAAA	EPX	ENSG00000121053.6	transcript	ENST00000225371.6	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
EPYC_chr12_90958682_91009972	91002748	CATTGCTG others(12): Show CATTGCTGCCAGATGTTCAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00741.hp1 HG01081.hp2 others(10): Show HG00099.hp2 HG00741.hp1 HG01081.hp2 HG01106.hp1 HG01243.hp2 HG01255.hp2 HG01258.hp2 HG01358.hp1 HG01943.hp1 HG01978.hp2 HG02300.hp1 HG04115.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0076 a0001c0001t0001g0097 others(8): Show a0001c0001t0001g0016 a0001c0001t0001g0076 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105	13	346	0.0376	-19	c.-13 others(34): Show c.-13-189_-13-171delTTGAACATCTGGCAGCAAT	EPYC	ENSG00000083782.8	transcript	ENST00000261172.8	protein_coding	1/6			chr12	TogoVar
ERBB4_chr2_211370717_212543802	211622989	AAATATAT others(12): Show AAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01069.hp1 NA19043.hp1 NA19043.hp2 HG01069.hp1 NA19043.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0001t0030 a0001c0002t0001 a0001c0001t0005 a0001c0001t0030 a0001c0002t0001	a0001c0001t0005g0044 a0001c0001t0030g0056 a0001c0002t0001g0036 a0001c0001t0005g0044 a0001c0001t0030g0056 a0001c0002t0001g0036	3	56	0.0536	-19	c.220 others(36): Show c.2202+914_2202+932delATATATATATATATATATT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	18/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	211662038	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02615.hp1 HG02145.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0002t0001 a0001c0001t0006 a0001c0002t0001	a0001c0001t0006g0026 a0001c0002t0001g0020 a0001c0001t0006g0026 a0001c0002t0001g0020	2	56	0.0357	-19	c.187 others(38): Show c.1871+3266_1871+3284delTTTTTTTTTTTTTTTTTTT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	15/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	211716362	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG03195.hp1 HG03239.hp2 others(1): Show HG01069.hp1 HG03195.hp1 HG03239.hp2 NA18906.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0010 a0001c0001t0025 a0001c0001t0030 others(1): Show a0001c0001t0010 a0001c0001t0025 a0001c0001t0030 a0002c0003t0001	a0001c0001t0010g0005 a0001c0001t0025g0051 a0001c0001t0030g0056 others(1): Show a0001c0001t0010g0005 a0001c0001t0025g0051 a0001c0001t0030g0056 a0002c0003t0001g0014	4	56	0.0714	-19	c.884 others(36): Show c.884-2733_884-2715delTTTTTTTTTTTTTTTTTTT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	7/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212187483	TATATTGA others(12): Show TATATTGACATGTATTGACA	T T	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0041 a0001c0001t0011g0041	1	56	0.0179	-19	c.83- others(36): Show c.83-62599_83-62581delTGTCAATACATGTCAATAT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar
ERBIN_chr5_65921575_66087546	65940568	GCGCCTCT others(12): Show GCGCCTCTGCCCGGCCGCCC	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01243.hp2 HG02257.hp1 others(9): Show HG01109.hp2 HG01243.hp2 HG02257.hp1 HG02258.hp2 HG02451.hp1 HG02647.hp1 HG02896.hp1 HG02965.hp1 HG02976.hp1 HG03225.hp2 HG03540.hp2 HG06807.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0002 a0005c0006t0007 a0005c0006t0015 others(1): Show a0005c0006t0002 a0005c0006t0007 a0005c0006t0015 a0005c0006t0016	a0005c0006t0002g0229 a0005c0006t0002g0263 a0005c0006t0007g0026 others(9): Show a0005c0006t0002g0229 a0005c0006t0002g0263 a0005c0006t0007g0026 a0005c0006t0007g0221 a0005c0006t0007g0222 a0005c0006t0007g0223 a0005c0006t0007g0224 a0005c0006t0007g0226 a0005c0006t0007g0227 a0005c0006t0007g0230 a0005c0006t0015g0225 a0005c0006t0016g0299	12	306	0.0392	-19	c.-58 others(38): Show c.-58+13764_-58+13782delGCCTCTGCCCGGCCGCCCC	ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERBIN_chr5_65921575_66087546	65958596	CAGAGGGA others(12): Show CAGAGGGAGACCGTGGAAGG	C C	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0092 a0001c0001t0028g0092	1	306	0.0033	-19	c.-57 others(38): Show c.-57-30023_-57-30005delAAGGAGAGGGAGACCGTGG	ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERBIN_chr5_65921575_66087546	65965379	GTTGTTTT others(12): Show GTTGTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0209 a0001c0002t0002g0209	1	306	0.0033	-19	c.-57 others(38): Show c.-57-23253_-57-23235delGTTTTTTTTTTTTTTTTTT	ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERBIN_chr5_65921575_66087546	65965382	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0172 a0002c0003t0005g0172	1	306	0.0033	-19	c.-57 others(38): Show c.-57-23230_-57-23212delTTTTTTTTTTTTTTTTTTT	ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERBIN_chr5_65921575_66087546	66018468	ATATATTA others(12): Show ATATATTATATATTATATAT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0015 a0005c0006t0015	a0005c0006t0015g0225 a0005c0006t0015g0225	1	306	0.0033	-19	c.534 others(36): Show c.534-2842_534-2824delTTATATATTATATTATATA	ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	7/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERBIN_chr5_65921575_66087546	66050226	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02615.hp2 HG02630.hp2 others(5): Show HG02280.hp2 HG02615.hp2 HG02630.hp2 HG02886.hp2 HG02895.hp2 HG03195.hp1 NA19043.hp2 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0173 a0001c0002t0002g0210 a0001c0002t0002g0211 others(5): Show a0001c0002t0002g0173 a0001c0002t0002g0210 a0001c0002t0002g0211 a0001c0002t0002g0212 a0001c0002t0002g0213 a0001c0002t0002g0214 a0001c0002t0002g0215 a0001c0002t0002g0217	8	306	0.0261	-19	c.190 others(36): Show c.1904-539_1904-521delTTTTTTTTTTTTTTTTTTT	ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	19/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERBIN_chr5_65921575_66087546	66065590	CCTGTGTG others(12): Show CCTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02615.hp2 HG02630.hp2 others(3): Show HG02280.hp2 HG02615.hp2 HG02630.hp2 HG02895.hp2 HG03195.hp1 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0173 a0001c0002t0002g0211 a0001c0002t0002g0212 others(3): Show a0001c0002t0002g0173 a0001c0002t0002g0211 a0001c0002t0002g0212 a0001c0002t0002g0213 a0001c0002t0002g0214 a0001c0002t0002g0217	6	306	0.0196	-19	c.363 others(38): Show c.3634-6578_3634-6560delCTGTGTGTGTGTGTGTGTG	ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	21/25			chr5	TogoVar
ERBIN_chr5_65921575_66087546	66065641	GTGTGTGT others(12): Show GTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0261 a0001c0002t0002g0261	1	306	0.0033	-19	c.363 others(38): Show c.3634-6526_3634-6508delGTGTGTGTGTGTGTGTGTT	ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	21/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERC1_chr12_986223_1500931	1398942	TTTTTTTT others(12): Show TTTTTTTTTTTTTTTTTTTG	T T	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0066 a0001c0001t0045g0066	1	162	0.0062	-19	c.292 others(38): Show c.2926-9204_2926-9186delTTTTTTTTTTTTTTTTGTT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	16/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1400908	ATTTTTGT others(12): Show ATTTTTGTATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01346.hp1 HG01358.hp2 others(24): Show HG01257.hp1 HG01346.hp1 HG01358.hp2 HG01517.hp1 HG02055.hp1 HG02109.hp1 HG02257.hp2 HG02451.hp2 HG02559.hp1 HG02622.hp2 HG02647.hp1 HG02717.hp1 HG02723.hp1 HG02809.hp1 HG02818.hp1 HG02895.hp1 HG02896.hp2 HG02970.hp2 HG03130.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03669.hp1 NA18949.hp1 NA19240.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0013 a0002c0002 a0001c0001 a0001c0013 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 others(23): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0001t0040 a0001c0001t0058 a0001c0001t0119 a0001c0001t0130 a0001c0013t0063 a0002c0002t0001 a0002c0002t0006 a0002c0002t0039 a0002c0002t0066 a0002c0002t0070 a0002c0002t0075 a0002c0002t0078 a0002c0002t0079 a0002c0002t0081 a0002c0002t0101 a0002c0002t0102 a0002c0002t0116 a0002c0002t0127 a0002c0002t0128 a0002c0002t0129 a0002c0002t0135 a0002c0002t0139 a0002c0002t0140	a0001c0001t0001g0076 a0001c0001t0004g0078 a0001c0001t0008g0086 others(24): Show a0001c0001t0001g0076 a0001c0001t0004g0078 a0001c0001t0008g0086 a0001c0001t0040g0150 a0001c0001t0058g0141 a0001c0001t0119g0061 a0001c0001t0130g0102 a0001c0013t0063g0077 a0002c0002t0001g0152 a0002c0002t0006g0122 a0002c0002t0006g0125 a0002c0002t0039g0151 a0002c0002t0066g0139 a0002c0002t0070g0138 a0002c0002t0075g0073 a0002c0002t0078g0128 a0002c0002t0079g0124 a0002c0002t0081g0123 a0002c0002t0101g0056 a0002c0002t0102g0055 a0002c0002t0116g0107 a0002c0002t0127g0155 a0002c0002t0128g0054 a0002c0002t0129g0106 a0002c0002t0135g0093 a0002c0002t0139g0096 a0002c0002t0140g0108	27	162	0.1667	-19	c.292 others(38): Show c.2926-7235_2926-7217delGTATTTTTTTTTTTTTTTT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	16/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC2_chr3_55503311_56473467	55714679	ATATATAT others(12): Show ATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0053 a0001c0001t0005g0053	1	74	0.0135	-19	c.271 others(40): Show c.2713-15186_2713-15168delATATATATATATATATATA	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	15/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	56329921	CAATATAC others(12): Show CAATATACATATATATTTCA	C C	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0023 a0001c0001t0012g0023	1	74	0.0135	-19	c.658 others(38): Show c.658-33505_658-33487delTGAAATATATATGTATATT	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	2/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	56446679	GCACTGGC others(12): Show GCACTGGCACAATCTCGGCT	G G	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0074 a0001c0002t0013g0074	1	74	0.0135	-19	c.-14 others(40): Show c.-140-11551_-140-11533delAGCCGAGATTGTGCCAGTG	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	1/17			chr3	TogoVar
ERCC3_chr2_127252290_127299144	127295967	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG01069.hp2 HG01106.hp2 others(16): Show HG00735.hp1 HG01069.hp2 HG01106.hp2 HG01168.hp1 HG01175.hp2 HG01255.hp2 HG01346.hp2 HG01891.hp2 HG02015.hp1 HG02258.hp2 HG02886.hp1 HG02976.hp1 HG03688.hp1 NA18522.hp2 NA18980.hp1 NA18991.hp2 NA19010.hp2 NA19090.hp1 NA19091.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0009 a0001c0001 a0002c0009	a0001c0001t0001 a0002c0009t0001 a0001c0001t0001 a0002c0009t0001	a0001c0001t0001g0010 a0001c0001t0001g0041 a0001c0001t0001g0085 others(13): Show a0001c0001t0001g0010 a0001c0001t0001g0041 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0227 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0002c0009t0001g0229	19	350	0.0543	-19	c.-19 others(30): Show c.-1905_-1887delTTTTTTTTTTTTTTTTTTT	ERCC3	ENSG00000163161.14	transcript	ENST00000285398.7	protein_coding		1824		chr2	TogoVar
ERCC6L2_chr9_95870691_96023447	95998079	CTTTCTGG others(12): Show CTTTCTGGCCATATACACCT	C C	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0020 a0020	a0020c0024 a0020c0024	a0020c0024t0075 a0020c0024t0075	a0020c0024t0075g0254 a0020c0024t0075g0254	1	392	0.0026	-19	c.349 others(38): Show c.3493-6419_3493-6401delTCTGGCCATATACACCTTT	ERCC6L2	ENSG00000182150.19	transcript	ENST00000653738.2	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr9	TogoVar
ERCC6_chr10_49449470_49544121	49525956	ATCCTTAC others(12): Show ATCCTTACTGTTGAATGTAG	A A	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0341 a0002c0002t0006g0341	1	388	0.0026	-19	c.653 others(36): Show c.653-1198_653-1180delCTACATTCAACAGTAAGGA	ERCC6	ENSG00000225830.16	transcript	ENST00000355832.10	protein_coding	4/20			chr10	TogoVar
ERCC6_chr10_49510198_49544121	49525956	ATCCTTAC others(12): Show ATCCTTACTGTTGAATGTAG	A A	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0218 a0002c0002t0004g0218	1	402	0.0025	-19	c.653 others(36): Show c.653-1198_653-1180delCTACATTCAACAGTAAGGA	ERCC6	ENSG00000225830.16	transcript	ENST00000447839.7	protein_coding	4/5			chr10	TogoVar
ERFE_chr2_238153970_238173890	238166511	ACTGCTGG others(12): Show ACTGCTGGTGCATGACCACG	A A	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0077 a0001c0001t0004g0077	1	456	0.0022	-19	c.967 others(34): Show c.967-425_967-407delCTGCTGGTGCATGACCACG	ERFE	ENSG00000178752.16	transcript	ENST00000546354.6	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
ERFL_chr19_41902704_41933449	41914845	GTCTCTCC others(12): Show GTCTCTCCCCCCCTCCACCA	G G	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0273 a0001c0001t0003g0273	1	330	0.0030	-19	c.-13 others(36): Show c.-13-1932_-13-1914delTGGTGGAGGGGGGGAGAGA	ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	1/5			chr19	TogoVar
ERI1_chr8_8997897_9038338	9020587	ACTCTTCA others(12): Show ACTCTTCAGATTCCAAATTC	A A	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0000 a0000	a0000c0001 a0000c0001	a0000c0001t0001 a0000c0001t0001	a0000c0001t0001g0248 a0000c0001t0001g0248	1	426	0.0024	-19	c.807 others(34): Show c.807+126_807+144delCTTCAGATTCCAAATTCCT	ERI1	ENSG00000104626.15	transcript	ENST00000250263.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr8	TogoVar
ERI3_chr1_44216070_44360257	44267659	TCTGCCTG others(12): Show TCTGCCTGCAGCCCGCCTGC	T T	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	340	0.0029	-19	c.831 others(38): Show c.831+17157_831+17175delGCAGGCGGGCTGCAGGCAG	ERI3	ENSG00000117419.16	transcript	ENST00000372257.7	protein_coding	7/8			chr1	TogoVar
ERI3_chr1_44216070_44360257	44342849	ATATATAT others(12): Show ATATATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	340	0.0029	-19	c.212 others(36): Show c.212-3546_212-3528delAAAAAAAAAAATATATATA	ERI3	ENSG00000117419.16	transcript	ENST00000372257.7	protein_coding	2/8			chr1	TogoVar
ERICH1_chr8_659200_736224	700374	CGCACAGG others(12): Show CGCACAGGCCCGCACACGCG	C C	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	378	0.0027	-19	c.170 others(36): Show c.170-7781_170-7763delCGCGTGTGCGGGCCTGTGC	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
ERICH5_chr8_98059568_98098609	98079153	CTTTTTTT others(12): Show CTTTTTTTTTTTCCTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00621.hp1 others(42): Show HG00099.hp2 HG00280.hp1 HG00621.hp1 HG00642.hp2 HG00733.hp2 HG00738.hp2 HG00741.hp2 HG01070.hp2 HG01074.hp1 HG01081.hp2 HG01361.hp2 HG01515.hp2 HG01517.hp1 HG01952.hp2 HG02015.hp1 HG02055.hp2 HG02300.hp1 HG02486.hp1 HG02559.hp2 HG02647.hp1 HG02922.hp1 HG03130.hp2 HG03453.hp2 HG03490.hp1 HG03540.hp1 HG03654.hp2 HG03704.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 NA18965.hp1 NA18966.hp1 NA18975.hp1 NA18978.hp2 NA18979.hp2 NA18986.hp1 NA18990.hp1 NA19004.hp2 NA19030.hp2 NA19057.hp2 NA19062.hp2 NA19070.hp1 NA19084.hp1 NA19088.hp2 NA20752.hp1	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0008	a0001c0001 a0003c0003 a0005c0004 others(1): Show a0001c0001 a0003c0003 a0005c0004 a0008c0008	a0001c0001t0001 a0001c0001t0002 a0003c0003t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0003c0003t0004 a0005c0004t0001 a0008c0008t0002	a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 others(42): Show a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0037 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0097 a0001c0001t0001g0114 a0001c0001t0001g0127 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0303 a0001c0001t0001g0307 a0001c0001t0001g0361 a0001c0001t0001g0363 a0001c0001t0001g0380 a0001c0001t0001g0399 a0001c0001t0001g0401 a0001c0001t0001g0403 a0001c0001t0001g0405 a0001c0001t0001g0431 a0001c0001t0002g0038 a0001c0001t0002g0106 a0001c0001t0002g0110 a0001c0001t0002g0121 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0284 a0001c0001t0002g0304 a0001c0001t0002g0333 a0001c0001t0002g0338 a0001c0001t0002g0355 a0001c0001t0002g0358 a0001c0001t0002g0391 a0001c0001t0002g0392 a0001c0001t0002g0429 a0001c0001t0002g0430 a0003c0003t0004g0364 a0005c0004t0001g0051 a0005c0004t0001g0052 a0008c0008t0002g0102	45	442	0.1018	-19	c.59- others(34): Show c.59-9911_59-9893delCCTTTTTTTTTTTTTTTTT	ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
ERICH5_chr8_98059568_98098609	98083336	ATGCATTG others(12): Show ATGCATTGTTTTCTCAGGAT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	442	0.0023	-19	c.59- others(34): Show c.59-5739_59-5721delTGCATTGTTTTCTCAGGAT	ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	1/2			chr8	TogoVar
ERICH5_chr8_98059568_98098609	98085136	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG01106.hp1 others(4): Show HG00099.hp1 HG00280.hp1 HG01106.hp1 HG01496.hp1 HG01516.hp2 HG03491.hp2 HG03492.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0004 a0001c0001 a0005c0004	a0001c0001t0001 a0001c0001t0002 a0005c0004t0001 a0001c0001t0001 a0001c0001t0002 a0005c0004t0001	a0001c0001t0001g0007 a0001c0001t0001g0066 a0001c0001t0001g0241 others(3): Show a0001c0001t0001g0007 a0001c0001t0001g0066 a0001c0001t0001g0241 a0001c0001t0002g0190 a0001c0001t0002g0290 a0005c0004t0001g0072	7	442	0.0158	-19	c.59- others(34): Show c.59-3916_59-3898delTTTTTTTTTTTTTTTTTTT	ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
ERICH6B_chr13_45536294_45620739	45606531	ATATATAT others(12): Show ATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	326	0.0031	-19	c.-59 others(36): Show c.-59+1014_-59+1032delAAATATATATATATATATA	ERICH6B	ENSG00000165837.12	transcript	ENST00000298738.3	protein_coding	2/14			chr13	TogoVar
ERLIN1_chr10_100145094_100191029	100183532	CTTCCAAG others(12): Show CTTCCAAGCTTCCTGGTTCA	C C	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	386	0.0026	-19	c.195 others(34): Show c.195+205_195+223delTGAACCAGGAAGCTTGGAA	ERLIN1	ENSG00000107566.14	transcript	ENST00000421367.7	protein_coding	2/10			chr10	TogoVar
ERMN_chr2_157313631_157330824	157323729	TAAATGTA others(12): Show TAAATGTAGGTGTCTTAGAA	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0069 a0001c0001t0002g0069	1	368	0.0027	-19	c.334 others(34): Show c.334+922_334+940delTTCTAAGACACCTACATTT	ERMN	ENSG00000136541.15	transcript	ENST00000410096.6	protein_coding	2/2			chr2	TogoVar
ERP44_chr9_99974185_100104000	100100783	ATATTATA others(12): Show ATATTATATATATAATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG01975.hp2 HG01070.hp1 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0148 a0001c0001t0001g0126 a0001c0001t0001g0148	2	220	0.0091	-19	c.-19 others(30): Show c.-1962_-1944delATATATTATATATATAATA	ERP44	ENSG00000023318.9	transcript	ENST00000262455.7	protein_coding		1784		chr9	TogoVar
ERV3-1_chr7_64985356_65011687	64989441	AATTATAT others(12): Show AATTATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0021 a0003c0003t0001g0021	1	458	0.0022	-19	c.17 others(30): Show c.1752_*1770delATATATATATATATATAAT	ERV3-1	ENSG00000213462.5	transcript	ENST00000394323.3	protein_coding		914		chr7	TogoVar
ESF1_chr20_13709325_13789919	13709681	AGTGCTGG others(12): Show AGTGCTGGGATTATGGGTGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00597.hp2 HG00733.hp1 others(45): Show HG00423.hp2 HG00597.hp2 HG00733.hp1 HG00735.hp1 HG00741.hp2 HG01433.hp1 HG01928.hp1 HG01943.hp2 HG01975.hp1 HG02027.hp1 HG02040.hp2 HG02055.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02622.hp1 HG02683.hp1 HG02717.hp1 HG02717.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG03209.hp1 HG03225.hp2 HG03540.hp1 HG03654.hp1 HG03831.hp2 HG04199.hp2 NA18522.hp2 NA18906.hp1 NA18988.hp1 NA19010.hp1 NA19011.hp1 NA19067.hp2 NA19076.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0001c0007 a0003c0004 others(1): Show a0001c0001 a0001c0007 a0003c0004 a0006c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0007t0002 a0003c0004t0002 a0006c0011t0002	a0001c0001t0001g0285 a0001c0001t0001g0288 a0001c0001t0002g0092 others(42): Show a0001c0001t0001g0285 a0001c0001t0001g0288 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0238 a0001c0001t0004g0009 a0001c0001t0004g0121 a0001c0001t0004g0122 a0001c0001t0004g0123 a0001c0001t0004g0124 a0001c0007t0002g0015 a0001c0007t0002g0237 a0003c0004t0002g0019 a0003c0004t0002g0125 a0003c0004t0002g0223 a0003c0004t0002g0290 a0003c0004t0002g0291 a0003c0004t0002g0332 a0003c0004t0002g0333 a0003c0004t0002g0334 a0003c0004t0002g0335 a0003c0004t0002g0336 a0003c0004t0002g0337 a0003c0004t0002g0338 a0003c0004t0002g0339 a0003c0004t0002g0340 a0003c0004t0002g0341 a0003c0004t0002g0342 a0003c0004t0002g0343 a0003c0004t0002g0344 a0003c0004t0002g0345 a0003c0004t0002g0346 a0003c0004t0002g0347 a0003c0004t0002g0348 a0006c0011t0002g0240	48	390	0.1231	-19	c.51 others(30): Show c.5174_*5192delACACCCATAATCCCAGCAC	ESF1	ENSG00000089048.15	transcript	ENST00000617257.2	protein_coding		4643		chr20	TogoVar
ESPN_chr1_6419776_6465944	6447188	GCTGTGTG others(12): Show GCTGTGTGCGCCCCTCCCCA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03225.hp2 HG02109.hp1 HG03225.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0002 a0003c0006t0002	a0003c0006t0002g0023 a0003c0006t0002g0023	2	276	0.0073	-19	c.146 others(38): Show c.1464+1271_1464+1289delCACTGTGTGCGCCCCTCCC	ESPN	ENSG00000187017.18	transcript	ENST00000645284.1	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
ESPN_chr1_6419776_6465944	6463725	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 NA20300.hp2 HG01884.hp1 NA20300.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0024 a0002c0004t0002g0024	2	276	0.0073	-19	c.35 others(30): Show c.3580_*3598delAAAAAAAAAAAAAAAAAAA	ESPN	ENSG00000187017.18	transcript	ENST00000645284.1	protein_coding		2782		chr1	TogoVar
ESR2_chr14_64223317_64299371	64246734	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02922.hp2 NA19043.hp1 others(1): Show HG01192.hp2 HG02922.hp2 NA19043.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0064 a0001c0001t0022 a0001c0001t0064	a0001c0001t0022g0250 a0001c0001t0022g0253 a0001c0001t0022g0254 others(1): Show a0001c0001t0022g0250 a0001c0001t0022g0253 a0001c0001t0022g0254 a0001c0001t0064g0251	4	368	0.0109	-19	c.122 others(38): Show c.1225+2793_1225+2811delTTTTTTTTTTTTTTTTTTT	ESR2	ENSG00000140009.19	transcript	ENST00000341099.6	protein_coding	7/8			chr14	TogoVar

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Search Results (Total: 7091 hits)