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
USP15_chr12_62255404_62421389	62257166	G G	GTGTGTAT others(16): Show GTGTGTATATGTATATATACACAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00423.hp2 HG00544.hp2 others(90): Show HG00099.hp2 HG00423.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01175.hp2 HG01257.hp1 HG01358.hp1 HG01952.hp1 HG01952.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp2 HG02040.hp2 HG02056.hp1 HG02074.hp2 HG02080.hp2 HG02109.hp2 HG02129.hp2 HG02135.hp2 HG02148.hp2 HG02155.hp2 HG02258.hp1 HG02300.hp1 HG02622.hp2 HG02683.hp2 HG02735.hp1 HG02970.hp1 HG03017.hp1 HG03130.hp2 HG03540.hp2 HG03688.hp1 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18940.hp1 NA18941.hp1 NA18943.hp1 NA18947.hp1 NA18949.hp2 NA18950.hp1 NA18951.hp1 NA18955.hp1 NA18960.hp1 NA18960.hp2 NA18964.hp2 NA18968.hp1 NA18971.hp2 NA18972.hp2 NA18979.hp2 NA18980.hp1 NA18983.hp1 NA18986.hp2 NA18987.hp2 NA18988.hp2 NA18990.hp1 NA18993.hp1 NA18993.hp2 NA18998.hp2 NA19001.hp1 NA19001.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19058.hp2 NA19064.hp1 NA19068.hp1 NA19074.hp1 NA19085.hp2 NA19088.hp2 NA19090.hp2 NA19240.hp2 NA20129.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 others(14): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0010 a0001c0001t0014 a0001c0001t0032 a0001c0003t0002 a0001c0003t0015 a0001c0003t0016 a0001c0003t0017 a0001c0003t0045 a0001c0003t0049 a0001c0003t0050 a0001c0003t0058 a0001c0004t0007 a0001c0004t0060 a0001c0004t0061	a0001c0001t0003g0222 a0001c0001t0003g0243 a0001c0001t0004g0009 others(85): Show a0001c0001t0003g0222 a0001c0001t0003g0243 a0001c0001t0004g0009 a0001c0001t0004g0116 a0001c0001t0004g0117 a0001c0001t0004g0118 a0001c0001t0004g0122 a0001c0001t0004g0123 a0001c0001t0004g0124 a0001c0001t0004g0125 a0001c0001t0004g0130 a0001c0001t0004g0133 a0001c0001t0004g0134 a0001c0001t0004g0135 a0001c0001t0004g0136 a0001c0001t0004g0137 a0001c0001t0004g0285 a0001c0001t0008g0292 a0001c0001t0010g0120 a0001c0001t0010g0132 a0001c0001t0014g0289 a0001c0001t0014g0290 a0001c0001t0014g0291 a0001c0001t0032g0111 a0001c0003t0002g0002 a0001c0003t0002g0012 a0001c0003t0002g0017 a0001c0003t0002g0110 a0001c0003t0002g0112 a0001c0003t0002g0148 a0001c0003t0002g0149 a0001c0003t0002g0150 a0001c0003t0002g0151 a0001c0003t0002g0154 a0001c0003t0002g0157 a0001c0003t0002g0158 a0001c0003t0002g0159 a0001c0003t0002g0160 a0001c0003t0002g0161 a0001c0003t0002g0165 a0001c0003t0002g0167 a0001c0003t0002g0168 a0001c0003t0002g0170 a0001c0003t0002g0173 a0001c0003t0002g0176 a0001c0003t0002g0177 a0001c0003t0002g0178 a0001c0003t0002g0179 a0001c0003t0002g0180 a0001c0003t0002g0181 a0001c0003t0002g0184 a0001c0003t0002g0186 a0001c0003t0002g0187 a0001c0003t0002g0188 a0001c0003t0002g0189 a0001c0003t0002g0190 a0001c0003t0002g0192 a0001c0003t0002g0198 a0001c0003t0002g0199 a0001c0003t0002g0200 a0001c0003t0002g0201 a0001c0003t0002g0203 a0001c0003t0002g0206 a0001c0003t0002g0280 a0001c0003t0002g0282 a0001c0003t0002g0286 a0001c0003t0002g0287 a0001c0003t0015g0155 a0001c0003t0015g0182 a0001c0003t0016g0152 a0001c0003t0016g0183 a0001c0003t0016g0204 a0001c0003t0017g0171 a0001c0003t0017g0172 a0001c0003t0045g0185 a0001c0003t0049g0002 a0001c0003t0050g0278 a0001c0003t0058g0145 a0001c0004t0007g0007 a0001c0004t0007g0099 a0001c0004t0007g0100 a0001c0004t0007g0101 a0001c0004t0007g0102 a0001c0004t0007g0103 a0001c0004t0007g0104 a0001c0004t0007g0105 a0001c0004t0060g0106 a0001c0004t0061g0097	93	348	0.2672	23	c.-32 others(34): Show c.-3249_-3248insTGTGTATATGTATATATACACAA	USP15	ENSG00000135655.16	transcript	ENST00000280377.10	protein_coding		3237		chr12	TogoVar
USP18_chr22_18145170_18182397	18161642	G G	GCCCCGCA others(16): Show GCCCCGCACCCCCGCGCCCCGCAC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03130.hp2 HG02486.hp1 HG03130.hp2	a0001 a0005 a0001 a0005	a0001c0003 a0005c0009 a0001c0003 a0005c0009	a0001c0003t0009 a0005c0009t0009 a0001c0003t0009 a0005c0009t0009	a0001c0003t0009g0262 a0005c0009t0009g0077 a0001c0003t0009g0262 a0005c0009t0009g0077	2	376	0.0053	23	c.255 others(38): Show c.255-142_255-141insACCCCCGCGCCCCGCACCCCCGC	USP18	ENSG00000184979.11	transcript	ENST00000215794.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr22	TogoVar
USP20_chr9_129830458_129886828	129846247	A A	ATATATAT others(16): Show ATATATATATATGTATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0009 a0009	a0009c0018 a0009c0018	a0009c0018t0006 a0009c0018t0006	a0009c0018t0006g0263 a0009c0018t0006g0263	1	352	0.0028	23	c.-12 others(42): Show c.-128-3565_-128-3564insATATATATATGTATTTTTTTTTT	USP20	ENSG00000136878.14	transcript	ENST00000372429.8	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
USP20_chr9_129830458_129886828	129846247	A A	ATATATAT others(16): Show ATATATATATGTATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0006 a0003c0008t0006	a0003c0008t0006g0266 a0003c0008t0006g0266	1	352	0.0028	23	c.-12 others(42): Show c.-128-3565_-128-3564insATATATATGTATTTTTTTTTTTT	USP20	ENSG00000136878.14	transcript	ENST00000372429.8	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
USP22_chr17_20994596_21048011	21027292	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp2 NA18984.hp2 HG00609.hp2 NA18984.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0005 a0001c0003t0004 a0001c0003t0005	a0001c0003t0004g0186 a0001c0003t0005g0054 a0001c0003t0004g0186 a0001c0003t0005g0054	2	356	0.0056	23	c.304 others(40): Show c.304+1249_304+1250insTTTTTTTTTTTTTTTTTTTTTTT	USP22	ENSG00000124422.12	transcript	ENST00000261497.9	protein_coding	2/12			chr17	TogoVar
USP26_chrX_133018168_133102109	133057866	A A	ATATATAT others(16): Show ATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA19088.hp1 NA18992.hp1 NA19088.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0069 a0001c0002t0008g0079 a0001c0002t0008g0069 a0001c0002t0008g0079	2	252	0.0079	23	c.-77 others(42): Show c.-77+25840_-77+25841insAAATATATATATATATATATATA	USP26	ENSG00000134588.13	transcript	ENST00000511190.6	protein_coding	5/5			chrX	TogoVar
USP32_chr17_60172327_60397133	60175189	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0145 a0001c0001t0002g0145	1	152	0.0066	23	c.40 others(34): Show c.4065_*4066insAAAAAAAAAAAAAAAAAAAAAAA	USP32	ENSG00000170832.13	transcript	ENST00000300896.9	protein_coding		2137		chr17	TogoVar
USP34_chr2_61182463_61476087	61196069	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0009 a0001c0009t0009	a0001c0009t0009g0075 a0001c0009t0009g0075	1	312	0.0032	23	c.950 others(42): Show c.9509-3112_9509-3090dupAAAAAAAAAAAAAAAAAAAAAAA	USP34	ENSG00000115464.15	transcript	ENST00000398571.7	protein_coding	75/79			chr2	TogoVar
USP37_chr2_218445251_218573351	218557930	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01943.hp1 NA18957.hp2 NA18973.hp2 others(1): Show HG01943.hp1 NA18957.hp2 NA18973.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0238 a0001c0001t0001g0239 others(1): Show a0001c0001t0001g0202 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240	4	282	0.0142	23	c.156 others(38): Show c.156+567_156+568insTTTTTTTTTTTTTTTTTTTTTTT	USP37	ENSG00000135913.11	transcript	ENST00000258399.8	protein_coding	4/25			chr2	TogoVar
USP3_chr15_63499593_63599633	63580660	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0141 a0002c0002t0009g0141	1	234	0.0043	23	c.109 others(42): Show c.1096+6257_1096+6258insTATATATATATATATATATATAT	USP3	ENSG00000140455.17	transcript	ENST00000380324.8	protein_coding	11/14			chr15	TogoVar
USP42_chr7_6099949_6166564	6114678	A A	ATATATAT others(16): Show ATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0005 a0002c0006t0005	a0002c0006t0005g0347 a0002c0006t0005g0347	1	394	0.0025	23	c.242 others(38): Show c.242-644_242-643insATATATATATATATTTTTTTTTT	USP42	ENSG00000106346.12	transcript	ENST00000306177.10	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
USP45_chr6_99427325_99520423	99473777	A A	ACACACAC others(16): Show ACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0310 a0003c0003t0001g0310	1	406	0.0025	23	c.933 others(40): Show c.933+2365_933+2366insGTGTGTGTGTGTGTGTGTGTGTG	USP45	ENSG00000123552.18	transcript	ENST00000500704.7	protein_coding	9/17			chr6	TogoVar
USP45_chr6_99427325_99520423	99473802	A A	ACACACAC others(16): Show ACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0061 a0002c0002t0003g0061	1	406	0.0025	23	c.933 others(40): Show c.933+2340_933+2341insGTGTGTGTGTGTGTGTGTGTGTG	USP45	ENSG00000123552.18	transcript	ENST00000500704.7	protein_coding	9/17			chr6	TogoVar
USP48_chr1_21673298_21788149	21694572	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0332 a0001c0002t0001g0332	1	364	0.0028	23	c.288 others(40): Show c.2883+471_2883+493dupTTTTTTTTTTTTTTTTTTTTTTT	USP48	ENSG00000090686.16	transcript	ENST00000308271.14	protein_coding	23/26			chr1	TogoVar
USP49_chr6_41784896_41900375	41802428	T T	TTTTATTT others(16): Show TTTTATTTTATTTTATTTTATTTA	intron_variant intron_variant	MODIFIER	HG00280.hp2 NA19090.hp2 HG00280.hp2 NA19090.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0052 a0001c0003t0002g0176 a0001c0003t0002g0052 a0001c0003t0002g0176	2	384	0.0052	23	c.156 others(42): Show c.1561+1377_1561+1378insTAAATAAAATAAAATAAAATAAA	USP49	ENSG00000164663.15	transcript	ENST00000682992.1	protein_coding	5/7			chr6	TogoVar
USP49_chr6_41784896_41900375	41802428	T T	TTTTATTT others(16): Show TTTTATTTTATTTTATTTTTTTTA	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0046 a0001c0003t0002g0046	1	384	0.0026	23	c.156 others(42): Show c.1561+1377_1561+1378insTAAAAAAAATAAAATAAAATAAA	USP49	ENSG00000164663.15	transcript	ENST00000682992.1	protein_coding	5/7			chr6	TogoVar
USP50_chr15_50495562_50551666	50525668	A A	ATATGTAT others(16): Show ATATGTATATTATATATGTATATG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02145.hp1 HG03195.hp1 HG01167.hp1 HG02145.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0001g0373 a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0001g0373	3	384	0.0078	23	c.936 others(40): Show c.936+4128_936+4129insCATATACATATATAATATACATA	USP50	ENSG00000170236.16	transcript	ENST00000532404.6	protein_coding	6/6			chr15	TogoVar
USP50_chr15_50495562_50551666	50525670	G G	GTGTATAT others(16): Show GTGTATATTATATATGTATATGTA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02451.hp1 HG03579.hp1 others(2): Show HG01884.hp2 HG02451.hp1 HG03579.hp1 NA19240.hp1 NA21309.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0059 a0002c0003t0001g0060 a0002c0003t0001g0061 others(2): Show a0002c0003t0001g0059 a0002c0003t0001g0060 a0002c0003t0001g0061 a0002c0003t0001g0062 a0002c0003t0001g0063	5	384	0.0130	23	c.936 others(40): Show c.936+4126_936+4127insTACATATACATATATAATATACA	USP50	ENSG00000170236.16	transcript	ENST00000532404.6	protein_coding	6/6			chr15	TogoVar
USP53_chr4_119207713_119300518	119227299	A A	ACACACAC others(16): Show ACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0108 a0001c0001t0013g0108	1	380	0.0026	23	c.-66 others(42): Show c.-664-7991_-664-7990insCACACACACACACACACACACAC	USP53	ENSG00000145390.12	transcript	ENST00000692078.1	protein_coding	3/18			chr4	TogoVar
USP54_chr10_73492538_73596342	73569902	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	196	0.0051	23	c.240 others(40): Show c.240+1496_240+1518dupTTTTTTTTTTTTTTTTTTTTTTT	USP54	ENSG00000166348.20	transcript	ENST00000687698.1	protein_coding	4/23			chr10	TogoVar
USP6NL_chr10_11455510_11616650	11554966	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03492.hp1 HG04204.hp2 HG03490.hp1 HG03492.hp1 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0022 a0001c0003t0012 a0001c0001t0022 a0001c0003t0012	a0001c0001t0022g0389 a0001c0001t0022g0391 a0001c0003t0012g0388 a0001c0001t0022g0389 a0001c0001t0022g0391 a0001c0003t0012g0388	3	402	0.0075	23	c.5-2 others(38): Show c.5-27400_5-27399insAAAAAAAAAAAAAAAAAAAAAAA	USP6NL	ENSG00000148429.15	transcript	ENST00000609104.6	protein_coding	2/14			chr10	TogoVar
USP7_chr16_8887097_8968906	8897726	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0182 a0001c0001t0002g0182	1	338	0.0030	23	c.271 others(40): Show c.2719-628_2719-627insATTTTTTTTTTTTTTTTTTTTTT	USP7	ENSG00000187555.17	transcript	ENST00000344836.9	protein_coding	25/30			chr16	TogoVar
USP7_chr16_8887097_8968906	8897726	A A	AAAAATAT others(16): Show AAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0027 a0001c0001t0005g0027	1	338	0.0030	23	c.271 others(40): Show c.2719-628_2719-627insATATATATATATATATATATTTT	USP7	ENSG00000187555.17	transcript	ENST00000344836.9	protein_coding	25/30			chr16	TogoVar
USP8_chr15_50419405_50519421	50445545	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0116 a0001c0001t0116	a0001c0001t0116g0358 a0001c0001t0116g0358	1	382	0.0026	23	c.250 others(40): Show c.250-3853_250-3831dupAAAAAAAAAAAAAAAAAAAAAAA	USP8	ENSG00000138592.14	transcript	ENST00000307179.9	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr15	TogoVar
USP8_chr15_50419405_50519421	50450462	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18991.hp2 NA18995.hp2 NA18982.hp1 NA18991.hp2 NA18995.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0014 a0002c0003t0033 a0002c0003t0145 a0002c0003t0014 a0002c0003t0033 a0002c0003t0145	a0002c0003t0014g0080 a0002c0003t0033g0077 a0002c0003t0145g0096 a0002c0003t0014g0080 a0002c0003t0033g0077 a0002c0003t0145g0096	3	382	0.0079	23	c.335 others(39): Show c.335+979_335+1001dupTTTTTTTTTTTTTTTTTTTTTTT	USP8	ENSG00000138592.14	transcript	ENST00000307179.9	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr15	TogoVar
USP9X_chrX_41080445_41241579	41161635	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02293.hp2 HG02818.hp2 HG02148.hp2 HG02293.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0197 a0001c0001t0001g0208 a0001c0001t0001g0132 a0001c0001t0001g0197 a0001c0001t0001g0208	3	293	0.0102	23	c.189 others(42): Show c.1898-1154_1898-1132dupTTTTTTTTTTTTTTTTTTTTTTT	USP9X	ENSG00000124486.15	transcript	ENST00000378308.7	protein_coding	14/44		INFO_REALIGN_3_PRIME	chrX	TogoVar
UST_chr6_148742030_149081990	148946510	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	210	0.0048	23	c.447 others(40): Show c.447+5095_447+5096insAAAAAAAAAAAAAAAAAAAAAAA	UST	ENSG00000111962.8	transcript	ENST00000367463.5	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
UTP11_chr1_38007734_38029820	38012048	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0005 a0001c0001t0004g0005	1	368	0.0027	23	c.-75 others(32): Show c.-755_-754insTTTTTTTTTTTTTTTTTTTTTTT	UTP11	ENSG00000183520.12	transcript	ENST00000373014.5	protein_coding		685		chr1	TogoVar
UTP20_chr12_101275105_101391618	101310577	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0167 a0001c0001t0007g0167	1	356	0.0028	23	c.223 others(40): Show c.2231+759_2231+760insAAAAAAAAAAAAAAAAAAAAAAA	UTP20	ENSG00000120800.5	transcript	ENST00000261637.5	protein_coding	19/61		INFO_REALIGN_3_PRIME	chr12	TogoVar
UTRN_chr6_144280335_144858034	144690095	T T	TTTTTTTT others(16): Show TTTTTTTTTTTTTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG04228.hp1 HG01496.hp2 HG04228.hp1	a0001 a0003 a0001 a0003	a0001c0003 a0003c0015 a0001c0003 a0003c0015	a0001c0003t0002 a0003c0015t0001 a0001c0003t0002 a0003c0015t0001	a0001c0003t0002g0018 a0003c0015t0001g0021 a0001c0003t0002g0018 a0003c0015t0001g0021	2	128	0.0156	23	c.765 others(42): Show c.7653-9991_7653-9990insTTTTTTTTTTTGTGTGTGTGTGT	UTRN	ENSG00000152818.20	transcript	ENST00000367545.8	protein_coding	52/74		INFO_REALIGN_3_PRIME	chr6	TogoVar
UTRN_chr6_144280335_144858034	144690095	T T	TTTTTTTT others(16): Show TTTTTTTTTTTTTTTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0075 a0001c0001t0004g0075	1	128	0.0078	23	c.765 others(42): Show c.7653-9991_7653-9990insTTTTTTTTTTTTTGTGTGTGTGT	UTRN	ENSG00000152818.20	transcript	ENST00000367545.8	protein_coding	52/74		INFO_REALIGN_3_PRIME	chr6	TogoVar
UTS2B_chr3_191262168_191335526	191267737	A A	AACATTTG others(16): Show AACATTTGTATGTAGAAGTACAGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0062 a0002c0002t0062	a0002c0002t0062g0157 a0002c0002t0062g0157	1	402	0.0025	23	c.65 others(32): Show c.656_*678dupACTGTACTTCTACATACAAATGT	UTS2B	ENSG00000188958.10	transcript	ENST00000340524.10	protein_coding	9/9	678		chr3	TogoVar
UVRAG_chr11_75810210_76149232	75979580	G G	GCGCCCCT others(16): Show GCGCCCCTCCCCCAGCCTCGCTGC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0031 a0002c0002t0031	a0002c0002t0031g0081 a0002c0002t0031g0081	1	146	0.0069	23	c.700 others(40): Show c.700-3802_700-3780dupCCTCCCCCAGCCTCGCTGCCGCC	UVRAG	ENSG00000198382.9	transcript	ENST00000356136.8	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr11	TogoVar
UVSSA_chr4_1342208_1393049	1372750	T T	TGCACTCA others(16): Show TGCACTCACCTCCCGCGTCTCAGG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02040.hp1 HG03491.hp1 others(1): Show HG01192.hp2 HG02040.hp1 HG03491.hp1 HG03492.hp1	a0003 a0007 a0003 a0007	a0003c0009 a0007c0011 a0003c0009 a0007c0011	a0003c0009t0002 a0007c0011t0015 a0003c0009t0002 a0007c0011t0015	a0003c0009t0002g0337 a0007c0011t0015g0030 a0007c0011t0015g0345 a0003c0009t0002g0337 a0007c0011t0015g0030 a0007c0011t0015g0345	4	400	0.0100	23	c.128 others(42): Show c.1289-2595_1289-2573dupTCAGGGCACTCACCTCCCGCGTC	UVSSA	ENSG00000163945.19	transcript	ENST00000389851.10	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
UVSSA_chr4_1342208_1393049	1372794	T T	TGCACTCA others(16): Show TGCACTCACCTCCCGCGTCTCAGG	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0002 a0003c0002t0002	a0003c0002t0002g0218 a0003c0002t0002g0218	1	400	0.0025	23	c.128 others(42): Show c.1289-2528_1289-2506dupTCAGGGCACTCACCTCCCGCGTC	UVSSA	ENSG00000163945.19	transcript	ENST00000389851.10	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
UVSSA_chr4_1342208_1393049	1372861	T T	TGCACTCA others(16): Show TGCACTCACCTCCCGCGTCTCAGG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00741.hp2 HG01175.hp1 others(15): Show HG00639.hp1 HG00741.hp2 HG01175.hp1 HG01192.hp2 HG01515.hp1 HG01517.hp1 HG03490.hp1 HG03492.hp2 HG03688.hp1 HG03831.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA19002.hp2 NA19011.hp2 NA19057.hp1 NA19077.hp2 homoSapiens_chm13v2.hp1	a0003 a0003	a0003c0002 a0003c0009 a0003c0034 a0003c0002 a0003c0009 a0003c0034	a0003c0002t0002 a0003c0002t0023 a0003c0009t0002 others(1): Show a0003c0002t0002 a0003c0002t0023 a0003c0009t0002 a0003c0034t0002	a0003c0002t0002g0003 a0003c0002t0002g0173 a0003c0002t0002g0188 others(11): Show a0003c0002t0002g0003 a0003c0002t0002g0173 a0003c0002t0002g0188 a0003c0002t0002g0189 a0003c0002t0002g0197 a0003c0002t0002g0199 a0003c0002t0002g0204 a0003c0002t0002g0222 a0003c0002t0002g0275 a0003c0002t0002g0276 a0003c0002t0023g0009 a0003c0009t0002g0172 a0003c0009t0002g0337 a0003c0034t0002g0009	18	400	0.0450	23	c.128 others(42): Show c.1289-2482_1289-2460dupAGGGCACTCACCTCCCGCGTCTC	UVSSA	ENSG00000163945.19	transcript	ENST00000389851.10	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
VAC14_chr16_70682439_70806158	70760962	G G	GTGTGTGT others(16): Show GTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0310 a0001c0003t0004g0310	1	322	0.0031	23	c.137 others(42): Show c.1371+1577_1371+1578insACACACACACACACACACACACA	VAC14	ENSG00000103043.15	transcript	ENST00000261776.10	protein_coding	12/18			chr16	TogoVar
VAMP4_chr1_171695160_171747065	171741914	G G	GGCTCCCG others(16): Show GGCTCCCGGGGAACTCCCGGCAGC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00323.hp2 others(60): Show HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp2 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01099.hp2 HG01175.hp1 HG01346.hp1 HG01361.hp2 HG01496.hp2 HG01515.hp1 HG01517.hp2 HG01891.hp1 HG01993.hp1 HG02004.hp1 HG02040.hp2 HG02056.hp1 HG02071.hp2 HG02135.hp1 HG02258.hp1 HG02273.hp1 HG02293.hp2 HG02735.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG03041.hp1 HG03491.hp2 HG03492.hp2 HG06807.hp1 NA18940.hp2 NA18949.hp2 NA18950.hp1 NA18954.hp1 NA18955.hp1 NA18960.hp1 NA18967.hp1 NA18968.hp1 NA18970.hp1 NA18971.hp2 NA18972.hp2 NA18975.hp2 NA18977.hp1 NA18979.hp1 NA18982.hp1 NA18987.hp2 NA18991.hp1 NA19056.hp2 NA19058.hp1 NA19060.hp1 NA19065.hp1 NA19082.hp1 NA19083.hp1 NA19085.hp2 NA19091.hp1 NA20805.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0015 a0001c0001t0019 others(16): Show a0001c0001t0002 a0001c0001t0015 a0001c0001t0019 a0001c0001t0024 a0001c0001t0025 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059	a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0006 others(43): Show a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0016 a0001c0001t0002g0018 a0001c0001t0002g0047 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0059 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0064 a0001c0001t0002g0066 a0001c0001t0002g0068 a0001c0001t0002g0073 a0001c0001t0015g0015 a0001c0001t0015g0050 a0001c0001t0015g0053 a0001c0001t0015g0070 a0001c0001t0019g0043 a0001c0001t0019g0048 a0001c0001t0019g0060 a0001c0001t0019g0067 a0001c0001t0024g0041 a0001c0001t0024g0042 a0001c0001t0024g0076 a0001c0001t0025g0019 a0001c0001t0025g0077 a0001c0001t0032g0017 a0001c0001t0033g0074 a0001c0001t0033g0075 a0001c0001t0034g0045 a0001c0001t0034g0063 a0001c0001t0049g0052 a0001c0001t0050g0057 a0001c0001t0051g0065 a0001c0001t0052g0046 a0001c0001t0053g0049 a0001c0001t0054g0069 a0001c0001t0055g0071 a0001c0001t0056g0044 a0001c0001t0057g0058 a0001c0001t0058g0051 a0001c0001t0059g0072	63	366	0.1721	23	c.-77 others(30): Show c.-77_-55dupGCTGCCGGGAGTTCCCCGGGAGC	VAMP4	ENSG00000117533.15	transcript	ENST00000236192.12	protein_coding	1/8	3501		chr1	TogoVar
VCX2_chrX_8164944_8176267	8169413	C C	CCCCACAC others(16): Show CCCCACACACCACCTCTCCTCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0002 a0005c0006t0002	a0005c0006t0002g0011 a0005c0006t0002g0011	1	115	0.0087	23	c.61 others(32): Show c.618_*619insAGGGAGGAGAGGTGGTGTGTGGG	VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding		530		chrX	TogoVar
VCX3A_chrX_6528618_6540118	6532878	C C	CTCCTCCC others(16): Show CTCCTCCCTCCCCACACACCTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0025 a0025	a0025c0019 a0025c0019	a0025c0019t0002 a0025c0019t0002	a0025c0019t0002g0040 a0025c0019t0002g0040	1	74	0.0135	23	c.86 others(32): Show c.866_*867insAGGAGGTGTGTGGGGAGGGAGGA	VCX3A	ENSG00000169059.13	transcript	ENST00000381089.7	protein_coding		739		chrX	TogoVar
VCX3A_chrX_6528618_6540118	6532911	C C	CTCTCCCT others(16): Show CTCTCCCTCCCCCACACACCACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0025 a0025	a0025c0019 a0025c0019	a0025c0019t0002 a0025c0019t0002	a0025c0019t0002g0040 a0025c0019t0002g0040	1	74	0.0135	23	c.83 others(32): Show c.833_*834insAGGTGGTGTGTGGGGGAGGGAGA	VCX3A	ENSG00000169059.13	transcript	ENST00000381089.7	protein_coding		706		chrX	TogoVar
VCX3B_chrX_8459830_8471510	8467175	T T	TGTGTGGG others(16): Show TGTGTGGGGAGGGAGGGAGGAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01517.hp1 HG03516.hp2 HG01517.hp1 HG03516.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0014 a0002c0002 a0003c0014	a0002c0002t0002 a0003c0014t0003 a0002c0002t0002 a0003c0014t0003	a0002c0002t0002g0047 a0003c0014t0003g0005 a0002c0002t0002g0047 a0003c0014t0003g0005	2	271	0.0074	23	c.79 others(32): Show c.792_*793insGTGTGGGGAGGGAGGGAGGAAGA	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		666		chrX	TogoVar
VCX_chrX_7838171_7849143	7844275	A A	AGGGAGGG others(16): Show AGGGAGGGAGGAAGAGGTGTGTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0010 a0010	a0010c0012 a0010c0012	a0010c0012t0003 a0010c0012t0003	a0010c0012t0003g0002 a0010c0012t0003g0002	1	341	0.0029	23	c.25 others(32): Show c.259_*260insGGGAGGGAGGAAGAGGTGTGTGG	VCX	ENSG00000182583.13	transcript	ENST00000688183.1	protein_coding		133		chrX	TogoVar
VCX_chrX_7838171_7849143	7844325	T T	TGTGTGGG others(16): Show TGTGTGGGGAGGGAGGGAGGAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0003 a0002c0006t0003	a0002c0006t0003g0002 a0002c0006t0003g0002	1	341	0.0029	23	c.30 others(32): Show c.309_*310insGTGTGGGGAGGGAGGGAGGAAGA	VCX	ENSG00000182583.13	transcript	ENST00000688183.1	protein_coding		183		chrX	TogoVar
VDR_chr12_47836537_47909994	47871292	C C	CTCTTTCT others(16): Show CTCTTTCTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0238	1	358	0.0028	23	c.147 others(40): Show c.147-6116_147-6115insAAGAAAGAAAGAAAGAAGAAAGA	VDR	ENSG00000111424.12	transcript	ENST00000549336.6	protein_coding	3/9			chr12	TogoVar
VDR_chr12_47836537_47909994	47904462	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01081.hp2 HG01074.hp2 HG01081.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0012 a0002c0002t0022 a0002c0002t0012 a0002c0002t0022	a0002c0002t0012g0022 a0002c0002t0022g0021 a0002c0002t0012g0022 a0002c0002t0022g0021	2	358	0.0056	23	c.-84 others(38): Show c.-84+470_-84+492dupTTTTTTTTTTTTTTTTTTTTTTT	VDR	ENSG00000111424.12	transcript	ENST00000549336.6	protein_coding	1/9			chr12	TogoVar
VEGFB_chr11_64229584_64244264	64237126	G G	GACAGAGA others(16): Show GACAGAGACAGACAGAGACAGACA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	328	0.0031	23	c.375 others(36): Show c.375-61_375-60insACAGAGACAGACAGAGACAGACA	VEGFB	ENSG00000173511.10	transcript	ENST00000309422.7	protein_coding	4/6			chr11	TogoVar
VEGFC_chr4_176678538_176797922	176768513	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	224	0.0045	23	c.147 others(42): Show c.147+23651_147+23652insTATATATATATATATATATATAT	VEGFC	ENSG00000150630.4	transcript	ENST00000618562.2	protein_coding	1/6			chr4	TogoVar
VEGFD_chrX_15340596_15389413	15368107	G G	GGAAAGAA others(16): Show GGAAAGAAAGAAAGGAGAGAAAGA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	302	0.0033	23	c.91- others(38): Show c.91-4811_91-4789dupTCTTTCTCTCCTTTCTTTCTTTC	VEGFD	ENSG00000165197.5	transcript	ENST00000297904.4	protein_coding	1/6			chrX	TogoVar
VEPH1_chr3_157254742_157508416	157304019	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03704.hp2 NA18959.hp2 others(2): Show HG03688.hp1 HG03704.hp2 NA18959.hp2 NA19001.hp2 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0068 a0001c0001t0001g0259 a0001c0001t0001g0268 others(2): Show a0001c0001t0001g0068 a0001c0001t0001g0259 a0001c0001t0001g0268 a0001c0001t0001g0281 a0001c0001t0007g0225	5	304	0.0165	23	c.201 others(42): Show c.2010+9601_2010+9602insTATATATATATATATATATATAT	VEPH1	ENSG00000197415.12	transcript	ENST00000362010.7	protein_coding	11/13			chr3	TogoVar

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Search Results (Total: 8696 hits)