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	21101562	G G	GAAAAAAA others(6): Show GAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG00423.hp1 others(103): Show HG00280.hp1 HG00408.hp2 HG00423.hp1 HG00544.hp2 HG00673.hp2 HG01069.hp1 HG01106.hp1 HG01109.hp2 HG01167.hp1 HG01175.hp1 HG01256.hp1 HG01261.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp2 HG01515.hp2 HG01517.hp2 HG01884.hp2 HG01891.hp2 HG01934.hp2 HG01952.hp2 HG01981.hp2 HG02004.hp2 HG02015.hp1 HG02040.hp1 HG02040.hp2 HG02132.hp2 HG02135.hp1 HG02145.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp2 HG02602.hp1 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02897.hp1 HG03098.hp1 HG03139.hp1 HG03225.hp1 HG03239.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp1 HG03540.hp1 HG03710.hp1 HG03831.hp1 HG03927.hp2 HG04115.hp2 HG04204.hp2 HG04228.hp2 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18942.hp1 NA18948.hp1 NA18949.hp1 NA18950.hp1 NA18952.hp2 NA18955.hp2 NA18957.hp2 NA18962.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp2 NA19010.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19077.hp1 NA19078.hp1 NA19084.hp1 NA19085.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0009 a0010	a0001c0001 a0001c0002 a0001c0012 others(5): Show a0001c0001 a0001c0002 a0001c0012 a0001c0015 a0002c0003 a0004c0006 a0009c0016 a0010c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0022 a0001c0001t0024 a0001c0001t0027 a0001c0002t0026 a0001c0012t0002 a0001c0015t0003 a0002c0003t0001 a0004c0006t0001 a0009c0016t0004 a0010c0011t0004	a0001c0001t0001g0114 a0001c0001t0001g0199 a0001c0001t0001g0208 others(103): Show a0001c0001t0001g0114 a0001c0001t0001g0199 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0230 a0001c0001t0001g0233 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0310 a0001c0001t0002g0002 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0031 a0001c0001t0002g0039 a0001c0001t0002g0050 a0001c0001t0002g0052 a0001c0001t0002g0055 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0069 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0086 a0001c0001t0002g0091 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0242 a0001c0001t0003g0243 a0001c0001t0003g0244 a0001c0001t0003g0245 a0001c0001t0003g0250 a0001c0001t0003g0251 a0001c0001t0003g0252 a0001c0001t0003g0253 a0001c0001t0003g0254 a0001c0001t0003g0255 a0001c0001t0003g0256 a0001c0001t0003g0257 a0001c0001t0003g0258 a0001c0001t0003g0259 a0001c0001t0003g0261 a0001c0001t0003g0262 a0001c0001t0003g0263 a0001c0001t0003g0266 a0001c0001t0003g0267 a0001c0001t0003g0269 a0001c0001t0003g0274 a0001c0001t0003g0279 a0001c0001t0004g0024 a0001c0001t0004g0216 a0001c0001t0004g0217 a0001c0001t0004g0219 a0001c0001t0004g0222 a0001c0001t0004g0223 a0001c0001t0004g0224 a0001c0001t0004g0225 a0001c0001t0004g0228 a0001c0001t0004g0229 a0001c0001t0004g0231 a0001c0001t0004g0236 a0001c0001t0005g0282 a0001c0001t0005g0283 a0001c0001t0005g0284 a0001c0001t0005g0285 a0001c0001t0005g0286 a0001c0001t0005g0288 a0001c0001t0005g0289 a0001c0001t0005g0290 a0001c0001t0005g0291 a0001c0001t0005g0293 a0001c0001t0005g0294 a0001c0001t0005g0295 a0001c0001t0007g0001 a0001c0001t0007g0036 a0001c0001t0007g0038 a0001c0001t0007g0040 a0001c0001t0007g0041 a0001c0001t0007g0042 a0001c0001t0007g0043 a0001c0001t0007g0044 a0001c0001t0010g0232 a0001c0001t0012g0297 a0001c0001t0012g0298 a0001c0001t0014g0118 a0001c0001t0015g0308 a0001c0001t0015g0309 a0001c0001t0016g0035 a0001c0001t0017g0003 a0001c0001t0018g0073 a0001c0001t0022g0299 a0001c0001t0024g0300 a0001c0001t0027g0307 a0001c0002t0026g0306 a0001c0012t0002g0092 a0001c0015t0003g0247 a0002c0003t0001g0213 a0004c0006t0001g0120 a0009c0016t0004g0226 a0010c0011t0004g0218	106	312	0.3397	13	c.-27 others(34): Show c.-271-12362_-271-12350dupTTTTTTTTTTTTT	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	2/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	21117736	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02922.hp1 HG02630.hp1 HG02922.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0010 a0001c0001 a0006c0010	a0001c0001t0001 a0006c0010t0001 a0001c0001t0001 a0006c0010t0001	a0001c0001t0001g0183 a0006c0010t0001g0184 a0001c0001t0001g0183 a0006c0010t0001g0184	2	312	0.0064	13	c.-27 others(34): Show c.-271-28536_-271-28524dupTTTTTTTTTTTTT	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	2/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	21180109	T T	TATATTAT others(6): Show TATATTATGTATTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0056 a0001c0001t0002g0056	1	312	0.0032	13	c.-38 others(24): Show c.-3844_-3843insTAATACATAATAT	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding		3213		chr1	TogoVar
EIF4H_chr7_74169356_74202096	74186788	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	374	0.0027	13	c.60- others(26): Show c.60-783_60-771dupTTTTTTTTTTTTT	EIF4H	ENSG00000106682.16	transcript	ENST00000265753.13	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr7	TogoVar
EIF4H_chr7_74169356_74202096	74201908	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00609.hp1 others(17): Show HG00323.hp1 HG00323.hp2 HG00609.hp1 HG00621.hp1 HG00673.hp1 HG01243.hp1 HG02015.hp1 HG02280.hp1 HG02818.hp2 HG03098.hp1 HG03516.hp2 HG03942.hp1 NA18522.hp2 NA18945.hp2 NA18955.hp1 NA18999.hp1 NA19010.hp2 NA19056.hp2 NA19067.hp1 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0005 a0001c0001t0001g0013 a0001c0001t0001g0028 others(15): Show a0001c0001t0001g0005 a0001c0001t0001g0013 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0090 a0001c0001t0001g0110 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0239 a0001c0001t0002g0017 a0001c0001t0002g0018	20	374	0.0535	13	c.66 others(24): Show c.6600_*6601insTTTTTTTTTTTTT	EIF4H	ENSG00000106682.16	transcript	ENST00000265753.13	protein_coding		4813		chr7	TogoVar
EIF5B_chr2_99332389_99406326	99353005	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0290 a0002c0001t0002g0290	1	342	0.0029	13	c.36- others(28): Show c.36-7216_36-7204dupTTTTTTTTTTTTT	EIF5B	ENSG00000158417.12	transcript	ENST00000289371.11	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
EIPR1_chr2_3183970_3382818	3199060	G G	GCCCCCCC others(6): Show GCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01109.hp1 NA18963.hp2 HG00621.hp1 HG01109.hp1 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0065 a0001c0001t0003g0196 a0001c0001t0003g0205 a0001c0001t0001g0065 a0001c0001t0003g0196 a0001c0001t0003g0205	3	250	0.0120	13	c.517 others(30): Show c.517-2044_517-2043insGGGGGGGGGGGGG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	5/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3269370	A A	ATCATCGC others(6): Show ATCATCGCACTCAG	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	250	0.0040	13	c.260 others(32): Show c.260-11928_260-11916dupCTGAGTGCGATGA	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3269480	G G	GTCATCGC others(6): Show GTCATCGCACTCAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00323.hp2 others(66): Show HG00140.hp1 HG00280.hp1 HG00323.hp2 HG00544.hp1 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01099.hp1 HG01106.hp2 HG01123.hp1 HG01255.hp1 HG01346.hp1 HG01515.hp1 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG02071.hp2 HG02109.hp1 HG02615.hp1 HG02698.hp1 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG03017.hp1 HG03209.hp1 HG03209.hp2 HG03516.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03942.hp2 HG04115.hp2 HG04228.hp1 NA18747.hp2 NA18944.hp2 NA18947.hp2 NA18950.hp2 NA18963.hp2 NA18970.hp1 NA18979.hp1 NA18995.hp2 NA18999.hp2 NA19004.hp1 NA19011.hp2 NA19012.hp1 NA19043.hp1 NA19064.hp2 NA19066.hp1 NA19079.hp2 NA19085.hp1 NA19090.hp2 NA20129.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0006t0003	a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 others(66): Show a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0157 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0216 a0001c0001t0001g0227 a0001c0001t0002g0073 a0001c0001t0002g0114 a0001c0001t0002g0208 a0001c0001t0003g0006 a0001c0001t0003g0007 a0001c0001t0003g0015 a0001c0001t0003g0019 a0001c0001t0003g0021 a0001c0001t0003g0025 a0001c0001t0003g0028 a0001c0001t0003g0036 a0001c0001t0003g0038 a0001c0001t0003g0042 a0001c0001t0003g0063 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0070 a0001c0001t0003g0075 a0001c0001t0003g0091 a0001c0001t0003g0117 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0003g0129 a0001c0001t0003g0143 a0001c0001t0003g0196 a0001c0001t0003g0198 a0001c0001t0003g0199 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0202 a0001c0001t0003g0204 a0001c0001t0003g0205 a0001c0001t0003g0206 a0001c0001t0003g0207 a0001c0001t0003g0209 a0001c0001t0003g0211 a0001c0001t0003g0212 a0001c0001t0003g0215 a0001c0001t0003g0217 a0001c0001t0003g0218 a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0223 a0001c0001t0003g0224 a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0003g0228 a0001c0001t0003g0230 a0001c0001t0003g0234 a0001c0001t0003g0241 a0001c0001t0003g0242 a0001c0001t0003g0243 a0001c0001t0003g0244 a0001c0001t0003g0247 a0001c0001t0004g0008 a0001c0001t0004g0103 a0001c0006t0003g0203	69	250	0.2760	13	c.260 others(32): Show c.260-12038_260-12026dupTTGAGTGCGATGA	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3269522	A A	ATCATCGC others(6): Show ATCATCGCACTCAG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02647.hp1 HG02572.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0023 a0001c0001t0002g0044 a0001c0001t0001g0023 a0001c0001t0002g0044	2	250	0.0080	13	c.260 others(32): Show c.260-12080_260-12068dupCTGAGTGCGATGA	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3319922	A A	AACACCAC others(6): Show AACACCACCCCTGC	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0207 a0001c0001t0003g0207	1	250	0.0040	13	c.259 others(32): Show c.259+18094_259+18095insGCAGGGGTGGTGT	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
ELAC2_chr17_12986612_13023027	12986673	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0098 a0002c0002t0005g0098	1	400	0.0025	13	c.61 others(24): Show c.6132_*6144dupTTTTTTTTTTTTT	ELAC2	ENSG00000006744.19	transcript	ENST00000338034.9	protein_coding		4938		chr17	TogoVar
ELAC2_chr17_12986612_13023027	12989101	C C	CCCCAAAA others(6): Show CCCCAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0005 a0002c0002t0005g0005	1	400	0.0025	13	c.37 others(24): Show c.3716_*3717insTTTTTTTTTTGGG	ELAC2	ENSG00000006744.19	transcript	ENST00000338034.9	protein_coding		2510		chr17	TogoVar
ELAC2_chr17_12986612_13023027	13021999	A A	AGAATCAG others(6): Show AGAATCAGGACAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(274): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01346.hp2 HG01515.hp1 HG01516.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02027.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp2 HG02738.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18975.hp2 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18991.hp1 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA19000.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19054.hp1 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19064.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp2 NA19080.hp1 NA19082.hp1 NA19082.hp2 NA19084.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0006 a0007 a0008 a0010	a0001c0001 a0001c0004 a0001c0005 others(14): Show a0001c0001 a0001c0004 a0001c0005 a0001c0010 a0001c0016 a0001c0018 a0001c0020 a0002c0002 a0002c0003 a0002c0007 a0002c0008 a0002c0019 a0003c0006 a0006c0013 a0007c0021 a0008c0015 a0010c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(40): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 a0001c0001t0018 a0001c0001t0023 a0001c0001t0024 a0001c0001t0026 a0001c0001t0032 a0001c0001t0041 a0001c0001t0043 a0001c0004t0003 a0001c0004t0042 a0001c0005t0002 a0001c0005t0008 a0001c0010t0001 a0001c0016t0002 a0001c0018t0001 a0001c0020t0010 a0002c0002t0005 a0002c0002t0006 a0002c0002t0021 a0002c0002t0025 a0002c0002t0028 a0002c0002t0029 a0002c0002t0030 a0002c0002t0031 a0002c0003t0007 a0002c0007t0017 a0002c0007t0038 a0002c0007t0039 a0002c0008t0012 a0002c0019t0034 a0003c0006t0006 a0006c0013t0001 a0007c0021t0003 a0008c0015t0001 a0010c0014t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 others(179): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0037 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0073 a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0146 a0001c0001t0001g0160 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0177 a0001c0001t0001g0186 a0001c0001t0001g0189 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0247 a0001c0001t0002g0004 a0001c0001t0002g0012 a0001c0001t0002g0020 a0001c0001t0002g0069 a0001c0001t0002g0111 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0153 a0001c0001t0002g0155 a0001c0001t0002g0158 a0001c0001t0002g0163 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0232 a0001c0001t0002g0236 a0001c0001t0003g0002 a0001c0001t0003g0022 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0141 a0001c0001t0003g0147 a0001c0001t0003g0151 a0001c0001t0003g0152 a0001c0001t0003g0157 a0001c0001t0003g0164 a0001c0001t0003g0167 a0001c0001t0003g0234 a0001c0001t0003g0235 a0001c0001t0004g0019 a0001c0001t0004g0119 a0001c0001t0004g0128 a0001c0001t0004g0156 a0001c0001t0009g0154 a0001c0001t0009g0239 a0001c0001t0010g0051 a0001c0001t0010g0109 a0001c0001t0010g0127 a0001c0001t0010g0210 a0001c0001t0010g0243 a0001c0001t0011g0024 a0001c0001t0013g0023 a0001c0001t0013g0176 a0001c0001t0013g0193 a0001c0001t0015g0130 a0001c0001t0015g0131 a0001c0001t0015g0139 a0001c0001t0015g0230 a0001c0001t0018g0027 a0001c0001t0023g0245 a0001c0001t0024g0175 a0001c0001t0026g0061 a0001c0001t0032g0070 a0001c0001t0041g0233 a0001c0001t0043g0142 a0001c0004t0003g0028 a0001c0004t0003g0029 a0001c0004t0003g0062 a0001c0004t0003g0063 a0001c0004t0003g0064 a0001c0004t0003g0065 a0001c0004t0003g0066 a0001c0004t0003g0067 a0001c0004t0042g0068 a0001c0005t0002g0148 a0001c0005t0002g0161 a0001c0005t0008g0021 a0001c0005t0008g0036 a0001c0005t0008g0162 a0001c0005t0008g0227 a0001c0005t0008g0231 a0001c0010t0001g0159 a0001c0010t0001g0197 a0001c0016t0002g0129 a0001c0018t0001g0199 a0001c0020t0010g0140 a0002c0002t0005g0005 a0002c0002t0005g0035 a0002c0002t0005g0071 a0002c0002t0005g0090 a0002c0002t0005g0091 a0002c0002t0005g0096 a0002c0002t0005g0097 a0002c0002t0005g0098 a0002c0002t0005g0099 a0002c0002t0005g0100 a0002c0002t0005g0101 a0002c0002t0005g0102 a0002c0002t0005g0103 a0002c0002t0005g0104 a0002c0002t0005g0105 a0002c0002t0006g0009 a0002c0002t0006g0018 a0002c0002t0006g0033 a0002c0002t0006g0078 a0002c0002t0006g0083 a0002c0002t0006g0085 a0002c0002t0006g0086 a0002c0002t0006g0261 a0002c0002t0021g0081 a0002c0002t0021g0112 a0002c0002t0025g0060 a0002c0002t0028g0092 a0002c0002t0029g0087 a0002c0002t0030g0077 a0002c0002t0031g0171 a0002c0003t0007g0008 a0002c0003t0007g0030 a0002c0003t0007g0031 a0002c0003t0007g0072 a0002c0003t0007g0074 a0002c0003t0007g0075 a0002c0003t0007g0076 a0002c0007t0017g0032 a0002c0007t0017g0080 a0002c0007t0038g0082 a0002c0007t0039g0084 a0002c0008t0012g0034 a0002c0008t0012g0079 a0002c0008t0012g0093 a0002c0008t0012g0094 a0002c0019t0034g0095 a0003c0006t0006g0010 a0003c0006t0006g0088 a0003c0006t0006g0089 a0006c0013t0001g0106 a0007c0021t0003g0262 a0008c0015t0001g0134 a0010c0014t0001g0108	277	400	0.6925	13	c.-40 others(24): Show c.-4053_-4052insCCTGTCCTGATTC	ELAC2	ENSG00000006744.19	transcript	ENST00000338034.9	protein_coding		3973		chr17	TogoVar
ELAC2_chr17_12986612_13023027	13022550	C C	CTCCCTTC others(6): Show CTCCCTTCCTTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0100 a0002c0002t0005g0100	1	400	0.0025	13	c.-46 others(24): Show c.-4604_-4603insAGGAAGGAAGGGA	ELAC2	ENSG00000006744.19	transcript	ENST00000338034.9	protein_coding		4524		chr17	TogoVar
ELAPOR1_chr1_109109115_109211781	109113400	G G	GAGAGAGA others(6): Show GAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0029 a0001c0001t0002g0029	1	230	0.0044	13	c.-78 others(22): Show c.-784_-783insAGAGAGAGAGAGA	ELAPOR1	ENSG00000116299.17	transcript	ENST00000369939.8	protein_coding		714		chr1	TogoVar
ELAPOR1_chr1_109109115_109211781	109113451	A A	AGAGAGAG others(6): Show AGAGAGAGAGGAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0037 a0001c0001t0003g0037	1	230	0.0044	13	c.-73 others(22): Show c.-733_-732insGAGAGAGAGGAGT	ELAPOR1	ENSG00000116299.17	transcript	ENST00000369939.8	protein_coding		663		chr1	TogoVar
ELAPOR1_chr1_109109115_109211781	109118900	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	230	0.0044	13	c.153 others(30): Show c.153+4567_153+4579dupTTTTTTTTTTTTT	ELAPOR1	ENSG00000116299.17	transcript	ENST00000369939.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
ELAPOR1_chr1_109109115_109211781	109144061	A A	ATATATAT others(6): Show ATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0027 a0002c0003t0003g0027	1	230	0.0044	13	c.154 others(32): Show c.154-17832_154-17831insATATATATTTTTT	ELAPOR1	ENSG00000116299.17	transcript	ENST00000369939.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
ELAPOR1_chr1_109109115_109211781	109144061	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0006 a0002c0005t0006	a0002c0005t0006g0014 a0002c0005t0006g0014	1	230	0.0044	13	c.154 others(32): Show c.154-17830_154-17818dupTTTTTTTTTTTTT	ELAPOR1	ENSG00000116299.17	transcript	ENST00000369939.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
ELAPOR1_chr1_109109115_109211781	109144062	T T	TATATATA others(6): Show TATATATATATATA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0002 a0002	a0002c0037 a0002c0037	a0002c0037t0027 a0002c0037t0027	a0002c0037t0027g0191 a0002c0037t0027g0191	1	230	0.0044	13	c.154 others(32): Show c.154-17832_154-17831insATATATATATATA	ELAPOR1	ENSG00000116299.17	transcript	ENST00000369939.8	protein_coding	1/21			chr1	TogoVar
ELAVL2_chr9_23685104_23831240	23699812	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	352	0.0028	13	c.713 others(30): Show c.713+1554_713+1566dupAAAAAAAAAAAAA	ELAVL2	ENSG00000107105.15	transcript	ENST00000397312.7	protein_coding	5/6			chr9	TogoVar
ELAVL2_chr9_23685104_23831240	23735105	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01243.hp2 NA19062.hp1 others(1): Show HG01169.hp2 HG01243.hp2 NA19062.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0078 a0001c0001t0001g0131 others(1): Show a0001c0001t0001g0047 a0001c0001t0001g0078 a0001c0001t0001g0131 a0001c0001t0001g0238	4	352	0.0114	13	c.230 others(30): Show c.230-3993_230-3981dupTTTTTTTTTTTTT	ELAVL2	ENSG00000107105.15	transcript	ENST00000397312.7	protein_coding	2/6			chr9	TogoVar
ELAVL2_chr9_23685104_23831240	23830625	C C	CACACACA others(6): Show CACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02258.hp2 NA18906.hp1 HG02055.hp1 HG02258.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0002 a0001c0001t0011	a0001c0001t0002g0009 a0001c0001t0011g0005 a0001c0001t0011g0007 a0001c0001t0002g0009 a0001c0001t0011g0005 a0001c0001t0011g0007	3	352	0.0085	13	c.-48 others(24): Show c.-4836_-4835insTGTGTGTGTGTGT	ELAVL2	ENSG00000107105.15	transcript	ENST00000397312.7	protein_coding		4386		chr9	TogoVar
ELAVL4_chr1_50103920_50208772	50119095	A A	AGAAAGAA others(6): Show AGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	276	0.0036	13	c.9+9 others(26): Show c.9+9897_9+9898insGAAAGAAAGAAAG	ELAVL4	ENSG00000162374.18	transcript	ENST00000371824.7	protein_coding	1/6			chr1	TogoVar
ELAVL4_chr1_50103920_50208772	50133599	A A	AAAAAGAA others(6): Show AAAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0245 a0001c0002t0003g0245	1	276	0.0036	13	c.10- others(30): Show c.10-11355_10-11354insAGAAAGAAAGAAA	ELAVL4	ENSG00000162374.18	transcript	ENST00000371824.7	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
ELF2_chr4_139052265_139182218	139114561	T T	TCCAGTCT others(6): Show TCCAGTCTCACACA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00280.hp2 others(31): Show HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00597.hp2 HG00741.hp1 HG01071.hp2 HG01081.hp1 HG01167.hp1 HG01169.hp2 HG01256.hp2 HG01361.hp1 HG01943.hp2 HG02145.hp1 HG02148.hp2 HG02615.hp2 HG02630.hp2 HG02818.hp2 HG03041.hp2 HG03098.hp2 HG03225.hp1 HG03491.hp1 HG03491.hp2 HG03579.hp2 HG04199.hp2 HG06807.hp2 NA18906.hp1 NA18949.hp1 NA18955.hp2 NA18979.hp2 NA18982.hp1 NA18994.hp2 NA19060.hp1 NA19065.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0012	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(31): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0035 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0233 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0002g0033 a0001c0001t0009g0030 a0001c0001t0012g0002	34	342	0.0994	13	c.238 others(32): Show c.238+10602_238+10603insTGTGTGAGACTGG	ELF2	ENSG00000109381.21	transcript	ENST00000686138.1	protein_coding	4/9			chr4	TogoVar
ELF4_chrX_130058955_130115497	130064005	A A	ATTATTAT others(6): Show ATTATTATTATTAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00408.hp2 NA18957.hp1 NA19079.hp1 HG00408.hp2 NA18957.hp1 NA19079.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0226 a0001c0002t0014g0228 a0001c0002t0014g0256 a0001c0002t0014g0226 a0001c0002t0014g0228 a0001c0002t0014g0256	3	274	0.0110	13	c.27 others(24): Show c.2715_*2716insATAATAATAATAA	ELF4	ENSG00000102034.18	transcript	ENST00000308167.10	protein_coding	9/9	2715		chrX	TogoVar
ELFN2_chr22_37362960_37432479	37379852	G G	GGTGCTCC others(6): Show GGTGCTCCTAGGTC	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0047 a0001c0002t0008g0047	1	334	0.0030	13	c.-46 others(32): Show c.-462-3869_-462-3857dupGACCTAGGAGCAC	ELFN2	ENSG00000166897.16	transcript	ENST00000402918.7	protein_coding	2/2			chr22	TogoVar
ELK3_chr12_96189375_96274824	96199028	G G	GAACATTA others(6): Show GAACATTACTTGAA	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0190 a0001c0001t0006g0190	1	354	0.0028	13	c.-3+ others(28): Show c.-3+4325_-3+4326insCATTACTTGAAAA	ELK3	ENSG00000111145.8	transcript	ENST00000228741.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr12	TogoVar
ELK3_chr12_96189375_96274824	96228416	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 NA19001.hp1 NA19060.hp1 HG00438.hp2 NA19001.hp1 NA19060.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0002 a0001c0001t0004 a0002c0002t0002	a0001c0001t0004g0145 a0001c0001t0004g0307 a0002c0002t0002g0161 a0001c0001t0004g0145 a0001c0001t0004g0307 a0002c0002t0002g0161	3	354	0.0085	13	c.207 others(30): Show c.207+4659_207+4671dupAAAAAAAAAAAAA	ELK3	ENSG00000111145.8	transcript	ENST00000228741.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr12	TogoVar
ELK4_chr1_205602943_205637011	205604005	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG04204.hp2 HG01070.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0039 a0001c0001t0038 a0001c0001t0039	a0001c0001t0038g0133 a0001c0001t0039g0130 a0001c0001t0038g0133 a0001c0001t0039g0130	2	424	0.0047	13	c.12 others(26): Show c.12528_*12540dupTTTTTTTTTTTTT	ELK4	ENSG00000158711.14	transcript	ENST00000357992.9	protein_coding		3937		chr1	TogoVar
ELL2_chr5_95880098_95966851	95907294	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0021 a0002c0002t0021	a0002c0002t0021g0131 a0002c0002t0021g0131	1	314	0.0032	13	c.482 others(28): Show c.482-513_482-512insAAAAAAAAAAAAA	ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	4/11			chr5	TogoVar
ELL2_chr5_95880098_95966851	95907296	A A	ATATTTTT others(6): Show ATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0228 a0001c0004t0001g0228	1	314	0.0032	13	c.482 others(28): Show c.482-515_482-514insAAAAAAAAAAATA	ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	4/11			chr5	TogoVar
ELL2_chr5_95880098_95966851	95931796	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02723.hp2 NA19043.hp2 HG01109.hp1 HG02723.hp2 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0017 a0001c0003t0007g0018 a0001c0003t0007g0019 a0001c0003t0007g0017 a0001c0003t0007g0018 a0001c0003t0007g0019	3	314	0.0096	13	c.195 others(32): Show c.195+11193_195+11205dupTTTTTTTTTTTTT	ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	2/11			chr5	TogoVar
ELL2_chr5_95880098_95966851	95948429	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0010 a0001c0005t0010	a0001c0005t0010g0046 a0001c0005t0010g0046	1	314	0.0032	13	c.148 others(30): Show c.148-5393_148-5381dupTTTTTTTTTTTTT	ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	1/11			chr5	TogoVar
ELL2_chr5_95880098_95966851	95963725	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG03041.hp2 NA18906.hp2 HG02622.hp2 HG03041.hp2 NA18906.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0010 a0001c0005t0010	a0001c0005t0010g0046 a0001c0005t0010g0047 a0001c0005t0010g0048 a0001c0005t0010g0046 a0001c0005t0010g0047 a0001c0005t0010g0048	3	314	0.0096	13	c.-20 others(24): Show c.-2005_-2004insAAAAAAAAAAAAA	ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding		1875		chr5	TogoVar
ELL_chr19_18437663_18527070	18454840	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01943.hp1 HG02148.hp2 others(1): Show HG01109.hp1 HG01943.hp1 HG02148.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0192 a0001c0001t0001g0227 others(1): Show a0001c0001t0001g0188 a0001c0001t0001g0192 a0001c0001t0001g0227 a0001c0001t0001g0233	4	244	0.0164	13	c.870 others(30): Show c.870-3205_870-3193dupTTTTTTTTTTTTT	ELL	ENSG00000105656.13	transcript	ENST00000262809.9	protein_coding	6/11			chr19	TogoVar
ELL_chr19_18437663_18527070	18462366	T T	TGTGTGTG others(6): Show TGTGTGTGGGCGGG	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02148.hp2 HG01261.hp1 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0229 a0001c0001t0001g0188 a0001c0001t0001g0229	2	244	0.0082	13	c.470 others(28): Show c.470-515_470-514insCCCGCCCACACAC	ELL	ENSG00000105656.13	transcript	ENST00000262809.9	protein_coding	4/11			chr19	TogoVar
ELL_chr19_18437663_18527070	18462366	T T	TGTGTGTG others(6): Show TGTGTGTGTGGGCG	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG02145.hp1 HG02257.hp1 others(1): Show HG01071.hp1 HG02145.hp1 HG02257.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0004 a0001c0003t0001 a0001c0001t0001 a0001c0001t0004 a0001c0003t0001	a0001c0001t0001g0190 a0001c0001t0004g0150 a0001c0001t0004g0152 others(1): Show a0001c0001t0001g0190 a0001c0001t0004g0150 a0001c0001t0004g0152 a0001c0003t0001g0165	4	244	0.0164	13	c.470 others(28): Show c.470-515_470-514insCGCCCACACACAC	ELL	ENSG00000105656.13	transcript	ENST00000262809.9	protein_coding	4/11			chr19	TogoVar
ELL_chr19_18437663_18527070	18462367	G G	GTGTGTGT others(6): Show GTGTGTGTGTGGGC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG03130.hp2 NA20300.hp1 HG01081.hp1 HG03130.hp2 NA20300.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0016 a0001c0001 a0009c0016	a0001c0001t0001 a0009c0016t0001 a0001c0001t0001 a0009c0016t0001	a0001c0001t0001g0163 a0001c0001t0001g0201 a0009c0016t0001g0011 a0001c0001t0001g0163 a0001c0001t0001g0201 a0009c0016t0001g0011	3	244	0.0123	13	c.470 others(28): Show c.470-516_470-515insGCCCACACACACA	ELL	ENSG00000105656.13	transcript	ENST00000262809.9	protein_coding	4/11			chr19	TogoVar
ELL_chr19_18437663_18527070	18482308	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0151 a0001c0001t0004g0151	1	244	0.0041	13	c.136 others(30): Show c.136-9439_136-9427dupAAAAAAAAAAAAA	ELL	ENSG00000105656.13	transcript	ENST00000262809.9	protein_coding	1/11			chr19	TogoVar
ELL_chr19_18437663_18527070	18524439	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	244	0.0041	13	c.-23 others(24): Show c.-2385_-2384insTTTTTTTTTTTTT	ELL	ENSG00000105656.13	transcript	ENST00000262809.9	protein_coding		2370		chr19	TogoVar
ELMO1_chr7_36847906_37453864	36849025	C C	CTCTCTTT others(6): Show CTCTCTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0007 a0001c0005t0007	a0001c0005t0007g0016 a0001c0005t0007g0016	1	92	0.0109	13	c.65 others(24): Show c.6525_*6526insAAAAAAAAAGAGA	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding		3880		chr7	TogoVar
ELMO1_chr7_36847906_37453864	36849025	C C	CTCTTTTT others(6): Show CTCTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01358.hp2 HG02486.hp1 others(6): Show HG01243.hp1 HG01358.hp2 HG02486.hp1 HG03130.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 NA19090.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 a0001c0002t0001 a0001c0007t0001	a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0029 others(6): Show a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0029 a0001c0001t0001g0041 a0001c0001t0004g0043 a0001c0001t0004g0046 a0001c0001t0010g0084 a0001c0002t0001g0081 a0001c0007t0001g0015	9	92	0.0978	13	c.65 others(24): Show c.6525_*6526insAAAAAAAAAAAGA	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding		3880		chr7	TogoVar
ELMO1_chr7_36847906_37453864	36899700	T T	TTTTTTTT others(6): Show TTTTTTTTTTTTTA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	92	0.0109	13	c.143 others(32): Show c.1438-4684_1438-4683insTAAAAAAAAAAAA	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	16/21			chr7	TogoVar
ELMO1_chr7_36847906_37453864	37155487	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0055 a0001c0001t0009g0055	1	92	0.0109	13	c.108 others(34): Show c.1087-22254_1087-22253insATTTTTTTTTTTT	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	13/21			chr7	TogoVar
ELMO1_chr7_36847906_37453864	37321716	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02027.hp1 HG02027.hp2 others(2): Show HG01243.hp2 HG02027.hp1 HG02027.hp2 HG03098.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0002t0001 a0001c0005t0002	a0001c0001t0001g0040 a0001c0001t0003g0044 a0001c0001t0005g0006 others(2): Show a0001c0001t0001g0040 a0001c0001t0003g0044 a0001c0001t0005g0006 a0001c0002t0001g0052 a0001c0005t0002g0042	5	92	0.0544	13	c.79- others(28): Show c.79-5769_79-5757dupTTTTTTTTTTTTT	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	2/21			chr7	TogoVar
ELMO1_chr7_36847906_37453864	37331333	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0066 a0001c0001t0012g0066	1	92	0.0109	13	c.78+ others(30): Show c.78+11267_78+11279dupAAAAAAAAAAAAA	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	2/21			chr7	TogoVar
ELMO2_chr20_46361050_46411615	46409977	G G	GTGCTGGA others(6): Show GTGCTGGAGTGCAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0221 a0001c0001t0004g0221	1	312	0.0032	13	c.-35 others(24): Show c.-3556_-3555insTTGCACTCCAGCA	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding		3363		chr20	TogoVar

Search by Variant

Search

Search Results