Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
EIF4G3_chr1_20801479_21181897	20989051	A A	AGGAGGGG others(28): Show AGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0305 a0001c0001t0008g0305	1	308	0.0032	35	c.178 others(52): Show c.178-6644_178-6643insCCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCTCC	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	7/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	20989056	A A	AGGAGGGG others(28): Show AGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG	intron_variant intron_variant	MODIFIER	HG03239.hp2 NA18522.hp2 NA19004.hp2 others(2): Show HG03239.hp2 NA18522.hp2 NA19004.hp2 NA19056.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0151 a0001c0001t0001g0187 others(2): Show a0001c0001t0001g0147 a0001c0001t0001g0151 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0190	5	108	0.0463	35	c.178 others(52): Show c.178-6649_178-6648insCCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCTCC	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	7/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	20989081	G G	GGGAGGGG others(28): Show GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGAGGAGA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02109.hp2 HG02486.hp1 others(2): Show HG01891.hp2 HG02109.hp2 HG02486.hp1 HG03098.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0002 a0001c0009t0002 a0001c0001t0002 a0001c0009t0002	a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 others(2): Show a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0072 a0001c0009t0002g0073	5	214	0.0234	35	c.178 others(52): Show c.178-6674_178-6673insTCTCCTCTCCCCTCCCCTCCCCTCCCCT CCCCTCC	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	7/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	20989081	G G	GGGAGGGG others(28): Show GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03453.hp2 HG03225.hp2 HG03453.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0100 a0004c0006t0001g0101 a0004c0006t0001g0100 a0004c0006t0001g0101	2	211	0.0095	35	c.178 others(52): Show c.178-6674_178-6673insTCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCTCC	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	7/36			chr1	TogoVar
EIPR1_chr2_3183970_3382818	3199060	G G	GCCCCCCC others(28): Show GCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0117 a0001c0001t0003g0117	1	93	0.0108	35	c.517 others(52): Show c.517-2044_517-2043insGGGGGGGGGGGGGGGGGGGGGGGGGGGG GGGGGGG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	5/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3295532	C C	CCACACAC others(28): Show CCACACACACCCTCCATCCAGCCCATCCTCTCTACA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(92): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00544.hp1 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01074.hp2 HG01099.hp1 HG01106.hp2 HG01192.hp1 HG01255.hp1 HG01256.hp1 HG01258.hp1 HG01346.hp1 HG01496.hp1 HG01515.hp1 HG01516.hp1 HG01884.hp1 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG02015.hp1 HG02071.hp2 HG02109.hp1 HG02258.hp2 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02630.hp1 HG02647.hp1 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02922.hp2 HG02970.hp2 HG03017.hp1 HG03098.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03654.hp2 HG03688.hp1 HG03704.hp2 HG03942.hp2 HG04115.hp2 HG04228.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18944.hp2 NA18945.hp1 NA18947.hp2 NA18950.hp2 NA18952.hp2 NA18957.hp1 NA18963.hp2 NA18970.hp1 NA18971.hp1 NA18979.hp1 NA18995.hp1 NA18995.hp2 NA18999.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19043.hp1 NA19064.hp2 NA19066.hp1 NA19079.hp2 NA19085.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp2 NA20129.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0003t0001 a0001c0006t0003	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0017 others(92): Show a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0017 a0001c0001t0001g0023 a0001c0001t0001g0030 a0001c0001t0001g0052 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0105 a0001c0001t0001g0157 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0216 a0001c0001t0001g0219 a0001c0001t0001g0227 a0001c0001t0002g0012 a0001c0001t0002g0022 a0001c0001t0002g0048 a0001c0001t0002g0069 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0096 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0207 a0001c0001t0003g0006 a0001c0001t0003g0007 a0001c0001t0003g0015 a0001c0001t0003g0025 a0001c0001t0003g0028 a0001c0001t0003g0036 a0001c0001t0003g0038 a0001c0001t0003g0046 a0001c0001t0003g0063 a0001c0001t0003g0070 a0001c0001t0003g0091 a0001c0001t0003g0129 a0001c0001t0003g0143 a0001c0001t0003g0196 a0001c0001t0003g0199 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0202 a0001c0001t0003g0204 a0001c0001t0003g0205 a0001c0001t0003g0206 a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0003g0211 a0001c0001t0003g0212 a0001c0001t0003g0215 a0001c0001t0003g0217 a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0223 a0001c0001t0003g0224 a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0003g0228 a0001c0001t0003g0230 a0001c0001t0003g0234 a0001c0001t0003g0241 a0001c0001t0003g0242 a0001c0001t0003g0243 a0001c0001t0003g0244 a0001c0001t0003g0247 a0001c0001t0004g0008 a0001c0001t0004g0103 a0001c0002t0001g0092 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0002g0020 a0001c0002t0002g0116 a0001c0002t0002g0118 a0001c0002t0002g0181 a0001c0002t0005g0078 a0001c0002t0005g0093 a0001c0002t0005g0094 a0001c0003t0001g0095 a0001c0003t0001g0193 a0001c0006t0003g0203	95	248	0.3831	35	c.260 others(54): Show c.260-38078_260-38077insTGTAGAGAGGATGGGCTGGATGGAGG GTGTGTGTG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3316062	C C	CTACCACC others(28): Show CTACCACCATCACCACCATCCCCATACACACCCCCT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01069.hp2 HG01071.hp2 others(11): Show HG00735.hp2 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01256.hp2 HG01258.hp2 HG01346.hp2 HG01496.hp2 HG01978.hp1 HG02273.hp2 HG02280.hp2 HG04228.hp1 NA20300.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0001 a0001c0001t0003 a0001c0001t0008	a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0032 others(11): Show a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0071 a0001c0001t0001g0197 a0001c0001t0003g0028 a0001c0001t0003g0063 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0008g0075	14	126	0.1111	35	c.259 others(54): Show c.259+21954_259+21955insAGGGGGTGTGTATGGGGATGGTGGTG ATGGTGGTA	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
ELAVL2_chr9_23685104_23831240	23735105	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	39	0.0256	35	c.230 others(52): Show c.230-3981_230-3980insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	ELAVL2	ENSG00000107105.15	transcript	ENST00000397312.7	protein_coding	2/6			chr9	TogoVar
ELF2_chr4_139052265_139182218	139092413	A A	AAACATAA others(28): Show AAACATAACATAACATAACATAACATAACATAACAT	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0020 a0001c0001t0008g0020	1	277	0.0036	35	c.239 others(54): Show c.239-18847_239-18846insATGTTATGTTATGTTATGTTATGTTA TGTTATGTT	ELF2	ENSG00000109381.21	transcript	ENST00000686138.1	protein_coding	4/9			chr4	TogoVar
ELF2_chr4_139052265_139182218	139114561	T T	TCCAGTCT others(28): Show TCCAGTCTCACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0272 a0001c0001t0001g0272	1	69	0.0145	35	c.238 others(54): Show c.238+10602_238+10603insTGTGTGTGTGTGTGTGTGTGTGTGTG TGAGACTGG	ELF2	ENSG00000109381.21	transcript	ENST00000686138.1	protein_coding	4/9			chr4	TogoVar
ELF2_chr4_139052265_139182218	139151024	A A	AAGAAAGA others(28): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0195 a0001c0001t0002g0195	1	335	0.0030	35	c.-25 others(56): Show c.-251-11528_-251-11527insCTTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCT	ELF2	ENSG00000109381.21	transcript	ENST00000686138.1	protein_coding	1/9			chr4	TogoVar
ELF2_chr4_139052265_139182218	139151032	A A	AAAAAAAA others(28): Show AAAAAAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAG	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG06807.hp1 HG03516.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0228 a0001c0001t0003g0229 a0001c0001t0002g0228 a0001c0001t0003g0229	2	100	0.0200	35	c.-25 others(56): Show c.-251-11536_-251-11535insCTTTCCTTTCTTTCCTTTCTTTCC TTTCTTTTTTT	ELF2	ENSG00000109381.21	transcript	ENST00000686138.1	protein_coding	1/9			chr4	TogoVar
ELL_chr19_18437663_18527070	18454840	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0196 a0001c0001t0018g0196	1	106	0.0094	35	c.870 others(52): Show c.870-3193_870-3192insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	ELL	ENSG00000105656.13	transcript	ENST00000262809.9	protein_coding	6/11			chr19	TogoVar
ELMO1_chr7_36847906_37453864	37092366	C C	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0031 a0001c0002t0005g0031	1	28	0.0357	35	c.130 others(54): Show c.1300+4252_1300+4253insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	15/21			chr7	TogoVar
ELMO2_chr20_46361050_46411615	46411193	G G	GCGGGTGT others(28): Show GCGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 NA18989.hp1 HG02055.hp2 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0021 a0001c0001t0004g0232 a0001c0001t0001g0021 a0001c0001t0004g0232	2	73	0.0274	35	c.-47 others(46): Show c.-4772_-4771insACACACACACACACACACACACACACACACACCC G	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding		4579		chr20	TogoVar
ELMO2_chr20_46361050_46411615	46411193	G G	GGGCGGGT others(28): Show GGGCGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp2 NA18522.hp1 NA18940.hp1 HG03041.hp2 NA18522.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0089 a0001c0001t0003g0071 a0001c0001t0004g0035 a0001c0001t0001g0089 a0001c0001t0003g0071 a0001c0001t0004g0035	3	74	0.0405	35	c.-47 others(46): Show c.-4772_-4771insACACACACACACACACACACACACACACACCCGC C	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding		4579		chr20	TogoVar
ELMO2_chr20_46361050_46411615	46411193	G G	GGGGGGGC others(28): Show GGGGGGGCGGGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 NA19043.hp1 HG03209.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0007 a0001c0001t0005g0136 a0001c0001t0005g0007 a0001c0001t0005g0136	2	73	0.0274	35	c.-47 others(46): Show c.-4772_-4771insACACACACACACACACACACACACACCCGCCCCC C	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding		4579		chr20	TogoVar
ELOVL6_chr4_110040846_110203615	110117903	A A	AAAAAAAA others(28): Show AAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0114 a0001c0001t0016g0114	1	55	0.0182	35	c.90- others(52): Show c.90-12276_90-12275insATATATATATATATATATATATATATTT TTTTTTT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3			chr4	TogoVar
ELSPBP1_chr19_47989632_48030154	48028497	C C	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0335 a0004c0004t0001g0335	1	222	0.0045	35	c.35 others(46): Show c.3553_*3554insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	ELSPBP1	ENSG00000169393.10	transcript	ENST00000339841.7	protein_coding		3344		chr19	TogoVar
EMC2_chr8_108438624_108494196	108443350	A A	AACACACA others(28): Show AACACACACACACACACACACACACACACACACCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0030 a0001c0001t0004g0030	1	156	0.0064	35	c.-30 others(44): Show c.-309_-308insACACACACACACACACACACACACACACACACCAC	EMC2	ENSG00000104412.8	transcript	ENST00000220853.8	protein_coding		273		chr8	TogoVar
EML4_chr2_42164353_42337548	42245094	C C	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG02559.hp2 HG02965.hp1 others(2): Show HG01070.hp2 HG02559.hp2 HG02965.hp1 HG03017.hp2 NA18990.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 others(1): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0003c0003t0004	a0001c0001t0002g0234 a0001c0001t0005g0323 a0001c0001t0006g0275 others(2): Show a0001c0001t0002g0234 a0001c0001t0005g0323 a0001c0001t0006g0275 a0001c0001t0006g0309 a0003c0003t0004g0256	5	51	0.0980	35	c.26- others(48): Show c.26-393_26-392insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	EML4	ENSG00000143924.19	transcript	ENST00000318522.10	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML4_chr2_42164353_42337548	42325596	T T	TTATATAT others(28): Show TTATATATATATATATATATATATGCTATGATTATA	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0067 a0002c0002t0001g0067	1	277	0.0036	35	c.224 others(50): Show c.2242+47_2242+48insATATATATATATATATATGCTATGATTATA TATAT	EML4	ENSG00000143924.19	transcript	ENST00000318522.10	protein_coding	20/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54882857	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01069.hp1 HG01074.hp2 others(3): Show HG00738.hp1 HG01069.hp1 HG01074.hp2 HG01952.hp2 HG01981.hp2 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0006 a0001c0001 a0001c0003 a0001c0006	a0001c0001t0002 a0001c0001t0003 a0001c0003t0002 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0003t0002 a0001c0006t0003	a0001c0001t0002g0189 a0001c0001t0003g0143 a0001c0003t0002g0150 others(3): Show a0001c0001t0002g0189 a0001c0001t0003g0143 a0001c0003t0002g0150 a0001c0003t0002g0153 a0001c0003t0002g0155 a0001c0006t0003g0134	6	99	0.0606	35	c.243 others(54): Show c.2438+3234_2438+3235insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	17/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54882873	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0044 a0001c0002t0044	a0001c0002t0044g0210 a0001c0002t0044g0210	1	222	0.0045	35	c.243 others(54): Show c.2438+3234_2438+3235insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAGA	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	17/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54961184	G G	GTTGTTTT others(28): Show GTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0037 a0001c0020t0037	a0001c0020t0037g0014 a0001c0020t0037g0014	1	22	0.0455	35	c.496 others(52): Show c.4968+852_4968+853insGTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	35/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
ENAH_chr1_225481829_225658123	225561619	T T	TTAAAATA others(28): Show TTAAAATAAAATAAAATAAAATAAAATAAAATAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03486.hp1 HG02622.hp1 HG03486.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0008 a0003c0004t0062 a0001c0001t0008 a0003c0004t0062	a0001c0001t0008g0300 a0003c0004t0062g0016 a0001c0001t0008g0300 a0003c0004t0062g0016	2	33	0.0606	35	c.171 others(52): Show c.171+5595_171+5629dupTTTTATTTTATTTTATTTTATTTTATTT TATTTTA	ENAH	ENSG00000154380.19	transcript	ENST00000366843.7	protein_coding	2/13			chr1	TogoVar
ENOSF1_chr18_665318_717630	666897	T T	TGATGGTG others(28): Show TGATGGTGATGGAGATGGTGATGGGATGGTGATGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	386	0.0026	35	c.74 others(46): Show c.7407_*7408insTCCATCACCATCCCATCACCATCTCCATCACCAT C	ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding		3420		chr18	TogoVar
ENPP6_chr4_184083706_184222873	184220070	A A	AAGAGAAG others(28): Show AAGAGAAGGGAACGAAAGGGGCAGGGAAGGGAGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0004 a0002c0001t0004	a0002c0001t0004g0310 a0002c0001t0004g0310	1	318	0.0031	35	c.-22 others(46): Show c.-2252_-2251insCCCCTCCCTTCCCTGCCCCTTTCGTTCCCTTCTC T	ENPP6	ENSG00000164303.11	transcript	ENST00000296741.7	protein_coding		2198		chr4	TogoVar
ENTPD4_chr8_23424162_23462647	23461318	G G	GTTTGAGA others(28): Show GTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp2 NA18612.hp2 NA18948.hp1 others(1): Show HG00673.hp2 NA18612.hp2 NA18948.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0155 a0001c0001t0002g0002 a0001c0001t0002g0155	4	410	0.0098	35	c.-38 others(46): Show c.-3860_-3859insTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAA A	ENTPD4	ENSG00000197217.13	transcript	ENST00000358689.9	protein_coding		3672		chr8	TogoVar
EPB41_chr1_28909569_29125041	28935467	A A	ACACACAC others(28): Show ACACACACACACACACACACACACACACACACACCC	intron_variant intron_variant	MODIFIER	HG02717.hp1 NA19057.hp1 HG02717.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0002 a0001c0001t0001 a0001c0003t0002	a0001c0001t0001g0133 a0001c0003t0002g0219 a0001c0001t0001g0133 a0001c0003t0002g0219	2	153	0.0131	35	c.-8+ others(52): Show c.-8+20700_-8+20701insACACACACACACACACACACACACACAC ACACCCC	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPB41_chr1_28909569_29125041	28935467	A A	ACACACAC others(28): Show ACACACACACACACACACACACACACACACACCCCC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0106 a0001c0001t0002g0106	1	152	0.0066	35	c.-8+ others(52): Show c.-8+20700_-8+20701insACACACACACACACACACACACACACAC ACCCCCC	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPB41_chr1_28909569_29125041	28935467	A A	ACACACAC others(28): Show ACACACACACACACACACACACACACACACCCCCCC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0158 a0001c0001t0005g0158	1	152	0.0066	35	c.-8+ others(52): Show c.-8+20700_-8+20701insACACACACACACACACACACACACACAC CCCCCCC	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPB41_chr1_28909569_29125041	28935468	C C	CACACACA others(28): Show CACACACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00423.hp2 NA18953.hp2 NA18993.hp1 HG00423.hp2 NA18953.hp2 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0010 a0001c0003t0002 a0001c0001t0002 a0001c0001t0010 a0001c0003t0002	a0001c0001t0002g0043 a0001c0001t0010g0184 a0001c0003t0002g0165 a0001c0001t0002g0043 a0001c0001t0010g0184 a0001c0003t0002g0165	3	276	0.0109	35	c.-8+ others(52): Show c.-8+20700_-8+20701insACACACACACACACACACACACACACAC ACACACA	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	1/20			chr1	TogoVar
EPC2_chr2_148639751_148792569	148775650	T T	TTTAAATA others(28): Show TTTAAATAAAATTAAATAAAATTAAATTTAATTTAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00423.hp2 HG00558.hp2 others(99): Show HG00280.hp2 HG00423.hp2 HG00558.hp2 HG00642.hp2 HG00673.hp1 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01106.hp1 HG01123.hp2 HG01175.hp1 HG01258.hp1 HG01346.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01517.hp2 HG01884.hp2 HG01943.hp1 HG01981.hp2 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02273.hp1 HG02523.hp1 HG02602.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG03041.hp1 HG03225.hp2 HG03490.hp1 HG03654.hp2 HG03669.hp2 HG03704.hp2 HG03831.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04204.hp2 NA18612.hp1 NA18747.hp2 NA18939.hp1 NA18941.hp2 NA18945.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18949.hp1 NA18950.hp2 NA18952.hp2 NA18956.hp2 NA18959.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp2 NA18968.hp1 NA18969.hp2 NA18972.hp2 NA18973.hp1 NA18975.hp1 NA18977.hp2 NA18985.hp1 NA18986.hp1 NA18990.hp2 NA18999.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp2 NA19007.hp2 NA19010.hp2 NA19056.hp1 NA19057.hp2 NA19060.hp1 NA19064.hp2 NA19065.hp2 NA19068.hp1 NA19070.hp1 NA19077.hp2 NA19081.hp2 NA19082.hp1 NA19083.hp1 NA19087.hp1 NA19088.hp2 NA19090.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008	a0001c0001t0001g0010 a0001c0001t0001g0029 a0001c0001t0001g0030 others(99): Show a0001c0001t0001g0010 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0306 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0133 a0001c0001t0003g0062 a0001c0001t0003g0074 a0001c0001t0003g0084 a0001c0001t0003g0094 a0001c0001t0003g0108 a0001c0001t0003g0121 a0001c0001t0008g0039	102	305	0.3344	35	c.172 others(54): Show c.1720+4281_1720+4315dupAAATTAAATTTAATTTAATTAAATAA AATTAAATA	EPC2	ENSG00000135999.12	transcript	ENST00000258484.11	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
EPHA3_chr3_89102621_89487134	89208423	G G	GAAGGAAG others(28): Show GAAGGAAGGAAGGAAGGAAGGAAGAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0002	a0002c0006t0002g0148 a0002c0006t0002g0148	1	59	0.0169	35	c.154 others(52): Show c.154-1434_154-1433insGAAGGAAGGAAGGAAGGAAGAAGAAAGA AAGAAAG	EPHA3	ENSG00000044524.11	transcript	ENST00000336596.7	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA5_chr4_65314567_65675489	65576054	G G	GAAAGAAA others(28): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAAGA	intron_variant intron_variant	MODIFIER	HG02897.hp1 NA18957.hp2 HG02897.hp1 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0005 a0001c0009t0059 a0001c0001t0005 a0001c0009t0059	a0001c0001t0005g0210 a0001c0009t0059g0232 a0001c0001t0005g0210 a0001c0009t0059g0232	2	200	0.0100	35	c.910 others(54): Show c.910+25586_910+25587insTCTTTTCTTTTCTTTCTTTCTTTCTT TCTTTCTTT	EPHA5	ENSG00000145242.14	transcript	ENST00000613740.5	protein_coding	3/16			chr4	TogoVar
EPHB1_chr3_134790260_135265467	134882765	C C	CCTTTCTT others(28): Show CCTTTCTTTCTTTTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0109 a0001c0003t0004g0109	1	15	0.0667	35	c.59- others(52): Show c.59-43039_59-43038insTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTT	EPHB1	ENSG00000154928.19	transcript	ENST00000398015.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPN2_chr17_19232366_19341715	19276773	G G	GTTTTTTT others(28): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	40	0.0250	35	c.-29 others(54): Show c.-293-5164_-293-5163insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	EPN2	ENSG00000072134.16	transcript	ENST00000314728.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
EPN2_chr17_19232366_19341715	19289724	G G	GTTTTGTT others(28): Show GTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02155.hp1 NA19005.hp1 HG02155.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0066 a0001c0001t0001g0069	2	51	0.0392	35	c.766 others(52): Show c.766+3938_766+3939insGTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	EPN2	ENSG00000072134.16	transcript	ENST00000314728.10	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
EPS15_chr1_51349263_51524266	51508229	A A	AAAGAGAG others(28): Show AAAGAGAGAAAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0002 a0007c0008t0002	a0007c0008t0002g0032 a0007c0008t0002g0032	1	148	0.0068	35	c.33+ others(52): Show c.33+10969_33+10970insCTCTCTCTCTCTCTCTCTCTCTCTCTTT CTCTCTT	EPS15	ENSG00000085832.18	transcript	ENST00000371733.8	protein_coding	1/24			chr1	TogoVar
EPS8L1_chr19_55070869_55092923	55076128	G G	GGACTGGG others(28): Show GGACTGGGGGCCTGGTCTCCTGAGTCTAAGGGAAGA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00609.hp1 HG00621.hp1 others(14): Show HG00544.hp1 HG00609.hp1 HG00621.hp1 HG01123.hp1 HG02293.hp1 HG02809.hp1 NA18963.hp2 NA18967.hp1 NA18975.hp1 NA18979.hp1 NA18982.hp2 NA18997.hp1 NA19002.hp1 NA19011.hp1 NA19057.hp2 NA19074.hp2 NA19082.hp2	a0001 a0003 a0001 a0003	a0001c0008 a0003c0003 a0001c0008 a0003c0003	a0001c0008t0001 a0003c0003t0001 a0001c0008t0001 a0003c0003t0001	a0001c0008t0001g0124 a0003c0003t0001g0007 a0003c0003t0001g0034 others(3): Show a0001c0008t0001g0124 a0003c0003t0001g0007 a0003c0003t0001g0034 a0003c0003t0001g0047 a0003c0003t0001g0143 a0003c0003t0001g0144	17	327	0.0520	35	c.-38 others(50): Show c.-38+209_-38+210insGACTGGGGGCCTGGTCTCCTGAGTCTAAGG GAAGA	EPS8L1	ENSG00000131037.15	transcript	ENST00000201647.11	protein_coding	1/19			chr19	TogoVar
EPS8L3_chr1_109745080_109768923	109767539	C C	CTGTGTCT others(28): Show CTGTGTCTTCTTTTCTCAGTCTCTCGTCCTACCTGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	1	424	0.0024	35	c.-37 others(46): Show c.-3777_-3743dupTCAGGTAGGACGAGAGACTGAGAAAAGAAGACAC A	EPS8L3	ENSG00000198758.11	transcript	ENST00000361965.9	protein_coding		3617		chr1	TogoVar
ERBB4_chr2_211370717_212543802	212345265	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	20	0.0500	35	c.82+ others(54): Show c.82+193183_82+193184insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar
ERC1_chr12_986223_1500931	1255621	C C	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0041 a0002c0006t0041	a0002c0006t0041g0081 a0002c0006t0041g0081	1	81	0.0123	35	c.248 others(54): Show c.2488-7384_2488-7383insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	13/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC2_chr3_55503311_56473467	55799423	C C	CATATATA others(28): Show CATATATATGCCTTATATATATATGCATATATATAT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0073 a0001c0001t0002g0073	1	72	0.0139	35	c.256 others(56): Show c.2565-64506_2565-64505insATATATATATGCATATATATATAA GGCATATATAT	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	14/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	56126807	G G	GAAGGAAA others(28): Show GAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG02258.hp2 others(5): Show HG01167.hp2 HG01169.hp1 HG02258.hp2 HG02630.hp1 HG02970.hp1 HG03195.hp1 NA18962.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0002t0001	a0001c0001t0001g0007 a0001c0001t0002g0011 a0001c0001t0002g0021 others(5): Show a0001c0001t0001g0007 a0001c0001t0002g0011 a0001c0001t0002g0021 a0001c0001t0005g0069 a0001c0001t0006g0026 a0001c0001t0006g0027 a0001c0002t0001g0015 a0001c0002t0001g0042	8	18	0.4444	35	c.147 others(56): Show c.1473+12667_1473+12701dupTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTT	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	6/17			chr3	TogoVar
ERCC2_chr19_45344837_45375573	45375534	A A	ATATTTTA others(28): Show ATATTTTATTTTATTTTATTTTATTTTATTTTATTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 HG03942.hp2 HG03209.hp1 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0195 a0001c0001t0001g0125 a0001c0001t0001g0195	2	175	0.0114	35	c.-49 others(46): Show c.-4995_-4994insAAATAAAATAAAATAAAATAAAATAAAATAAAAT A	ERCC2	ENSG00000104884.17	transcript	ENST00000391945.10	protein_coding		4962		chr19	TogoVar
ERICH1_chr8_659200_736224	700336	C C	CGCGCACA others(28): Show CGCGCACAGGCCCTCACAGGCCACAGACCCGCACAG	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0011 a0011	a0011c0015 a0011c0015	a0011c0015t0001 a0011c0015t0001	a0011c0015t0001g0083 a0011c0015t0001g0083	1	202	0.0050	35	c.170 others(52): Show c.170-7725_170-7724insCTGTGCGGGTCTGTGGCCTGTGAGGGCC TGTGCGC	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
ERICH5_chr8_98059568_98098609	98087850	T T	TATTCCAC others(28): Show TATTCCACACCATGGAATATTTATGTGTTCTTGAAC	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0011 a0011	a0011c0014 a0011c0014	a0011c0014t0001 a0011c0014t0001	a0011c0014t0001g0388 a0011c0014t0001g0388	1	440	0.0023	35	c.59- others(50): Show c.59-1225_59-1191dupATTCCACACCATGGAATATTTATGTGTTCT TGAAC	ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
ERICH5_chr8_98059568_98098609	98091900	C C	CTTTCTTT others(28): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG03704.hp1 HG03927.hp2 HG02683.hp2 HG03704.hp1 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0329 a0001c0001t0001g0332 a0001c0001t0001g0091 a0001c0001t0001g0329 a0001c0001t0001g0332	3	187	0.0160	35	c.101 others(54): Show c.1013-1321_1013-1320insTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTT	ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	2/2			chr8	TogoVar

Search by Variant

Search

Search Results