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
HELB_chr12_66297493_66343199	66327066	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01952.hp2 NA20129.hp2 HG01952.hp2 NA20129.hp2	a0002 a0016 a0002 a0016	a0002c0001 a0016c0021 a0002c0001 a0016c0021	a0002c0001t0002 a0016c0021t0001 a0002c0001t0002 a0016c0021t0001	a0002c0001t0002g0206 a0016c0021t0001g0221 a0002c0001t0002g0206 a0016c0021t0001g0221	2	390	0.0051	26	c.267 others(45): Show c.2670+1956_2670+1957insATATATATATATATATATATATATAT	HELB	ENSG00000127311.10	transcript	ENST00000247815.9	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
HELLS_chr10_94540788_94607099	94542798	A A	ATTTTTTT others(19): Show ATTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0041 a0001c0002t0001g0041	1	358	0.0028	26	c.-31 others(37): Show c.-3124_-3123insTTTTTTTTTTTTTTTTTTTTTTTTTT	HELLS	ENSG00000119969.16	transcript	ENST00000348459.10	protein_coding		2989		chr10	TogoVar
HELZ_chr17_67065444_67250196	67086631	A A	AATATAAA others(19): Show AATATAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0260 a0001c0001t0041g0260	1	274	0.0037	26	c.549 others(43): Show c.5494+197_5494+198insATATATATATATATATATATTTATAT	HELZ	ENSG00000198265.12	transcript	ENST00000358691.10	protein_coding	32/32			chr17	TogoVar
HELZ_chr17_67065444_67250196	67089668	T T	TATAGAGA others(19): Show TATAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA19000.hp1 NA18944.hp2 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0245 a0001c0001t0006g0250 a0001c0001t0006g0245 a0001c0001t0006g0250	2	274	0.0073	26	c.524 others(45): Show c.5242-2588_5242-2587insCTCTCTCTCTCTCTCTCTCTCTCTAT	HELZ	ENSG00000198265.12	transcript	ENST00000358691.10	protein_coding	31/32			chr17	TogoVar
HELZ_chr17_67065444_67250196	67089668	T T	TATATAGA others(19): Show TATATAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01993.hp2 HG02698.hp1 HG01258.hp2 HG01993.hp2 HG02698.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0003 a0001c0001t0001 a0002c0002t0003	a0001c0001t0001g0205 a0002c0002t0003g0052 a0002c0002t0003g0060 a0001c0001t0001g0205 a0002c0002t0003g0052 a0002c0002t0003g0060	3	274	0.0110	26	c.524 others(45): Show c.5242-2588_5242-2587insCTCTCTCTCTCTCTCTCTCTCTATAT	HELZ	ENSG00000198265.12	transcript	ENST00000358691.10	protein_coding	31/32			chr17	TogoVar
HELZ_chr17_67065444_67250196	67089668	T T	TATATATA others(19): Show TATATATAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01981.hp2 NA18975.hp1 HG01433.hp2 HG01981.hp2 NA18975.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0018 a0001c0001 a0008c0018	a0001c0001t0001 a0008c0018t0001 a0001c0001t0001 a0008c0018t0001	a0001c0001t0001g0238 a0001c0001t0001g0242 a0008c0018t0001g0204 a0001c0001t0001g0238 a0001c0001t0001g0242 a0008c0018t0001g0204	3	274	0.0110	26	c.524 others(45): Show c.5242-2588_5242-2587insCTCTCTCTCTCTCTCTCTCTATATAT	HELZ	ENSG00000198265.12	transcript	ENST00000358691.10	protein_coding	31/32			chr17	TogoVar
HELZ_chr17_67065444_67250196	67089668	T T	TATATATA others(19): Show TATATATATAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA19064.hp1 NA19068.hp1 others(1): Show NA18982.hp1 NA19064.hp1 NA19068.hp1 NA19081.hp1	a0001 a0004 a0012 a0001 a0004 a0012	a0001c0001 a0004c0005 a0012c0019 a0001c0001 a0004c0005 a0012c0019	a0001c0001t0001 a0001c0001t0057 a0004c0005t0012 others(1): Show a0001c0001t0001 a0001c0001t0057 a0004c0005t0012 a0012c0019t0012	a0001c0001t0001g0187 a0001c0001t0057g0221 a0004c0005t0012g0072 others(1): Show a0001c0001t0001g0187 a0001c0001t0057g0221 a0004c0005t0012g0072 a0012c0019t0012g0041	4	274	0.0146	26	c.524 others(45): Show c.5242-2588_5242-2587insCTCTCTCTCTCTCTCTCTATATATAT	HELZ	ENSG00000198265.12	transcript	ENST00000358691.10	protein_coding	31/32			chr17	TogoVar
HELZ_chr17_67065444_67250196	67089668	T T	TATATATA others(19): Show TATATATATATAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02273.hp1 HG02300.hp2 others(4): Show HG01358.hp2 HG02273.hp1 HG02300.hp2 HG03041.hp1 HG03654.hp1 NA19085.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0029 a0002c0002t0003 others(1): Show a0001c0001t0001 a0001c0001t0029 a0002c0002t0003 a0002c0002t0020	a0001c0001t0001g0186 a0001c0001t0001g0224 a0001c0001t0001g0225 others(4): Show a0001c0001t0001g0186 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0029g0219 a0002c0002t0003g0040 a0002c0002t0003g0050 a0002c0002t0020g0078	7	274	0.0256	26	c.524 others(45): Show c.5242-2588_5242-2587insCTCTCTCTCTCTCTCTATATATATAT	HELZ	ENSG00000198265.12	transcript	ENST00000358691.10	protein_coding	31/32			chr17	TogoVar
HELZ_chr17_67065444_67250196	67089668	T T	TATATATA others(19): Show TATATATATATATAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01361.hp1 NA18612.hp2 others(2): Show HG00280.hp2 HG01361.hp1 NA18612.hp2 NA18747.hp2 NA19007.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0037 a0001c0001t0056 others(1): Show a0001c0001t0001 a0001c0001t0037 a0001c0001t0056 a0002c0002t0027	a0001c0001t0001g0191 a0001c0001t0001g0206 a0001c0001t0037g0005 others(2): Show a0001c0001t0001g0191 a0001c0001t0001g0206 a0001c0001t0037g0005 a0001c0001t0056g0146 a0002c0002t0027g0054	5	274	0.0183	26	c.524 others(45): Show c.5242-2588_5242-2587insCTCTCTCTCTCTCTATATATATATAT	HELZ	ENSG00000198265.12	transcript	ENST00000358691.10	protein_coding	31/32			chr17	TogoVar
HELZ_chr17_67065444_67250196	67089668	T T	TATATATA others(19): Show TATATATATATATATAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02109.hp2 HG03195.hp1 others(1): Show HG01074.hp2 HG02109.hp2 HG03195.hp1 NA19007.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0005 a0002c0002t0046 a0001c0001t0001 a0002c0002t0005 a0002c0002t0046	a0001c0001t0001g0211 a0001c0001t0001g0223 a0002c0002t0005g0084 others(1): Show a0001c0001t0001g0211 a0001c0001t0001g0223 a0002c0002t0005g0084 a0002c0002t0046g0085	4	274	0.0146	26	c.524 others(45): Show c.5242-2588_5242-2587insCTCTCTCTCTCTATATATATATATAT	HELZ	ENSG00000198265.12	transcript	ENST00000358691.10	protein_coding	31/32			chr17	TogoVar
HELZ_chr17_67065444_67250196	67089668	T T	TATATATA others(19): Show TATATATATATATATATAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18965.hp2 NA18954.hp1 NA18965.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0011c0008 a0001c0001 a0011c0008	a0001c0001t0055 a0011c0008t0003 a0001c0001t0055 a0011c0008t0003	a0001c0001t0055g0167 a0011c0008t0003g0038 a0001c0001t0055g0167 a0011c0008t0003g0038	2	274	0.0073	26	c.524 others(45): Show c.5242-2588_5242-2587insCTCTCTCTCTATATATATATATATAT	HELZ	ENSG00000198265.12	transcript	ENST00000358691.10	protein_coding	31/32			chr17	TogoVar
HELZ_chr17_67065444_67250196	67089668	T T	TATATATA others(19): Show TATATATATATATATATATAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	274	0.0037	26	c.524 others(45): Show c.5242-2588_5242-2587insCTCTCTCTATATATATATATATATAT	HELZ	ENSG00000198265.12	transcript	ENST00000358691.10	protein_coding	31/32			chr17	TogoVar
HELZ_chr17_67065444_67250196	67089668	T T	TATATATA others(19): Show TATATATATATATATATATATAGAGAG	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	274	0.0037	26	c.524 others(45): Show c.5242-2588_5242-2587insCTCTCTATATATATATATATATATAT	HELZ	ENSG00000198265.12	transcript	ENST00000358691.10	protein_coding	31/32			chr17	TogoVar
HELZ_chr17_67065444_67250196	67089668	T T	TATATATA others(19): Show TATATATATATATATATATATATAGAG	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0248 a0001c0001t0011g0248	1	274	0.0037	26	c.524 others(45): Show c.5242-2588_5242-2587insCTCTATATATATATATATATATATAT	HELZ	ENSG00000198265.12	transcript	ENST00000358691.10	protein_coding	31/32			chr17	TogoVar
HEMK1_chr3_50564522_50601166	50591663	C C	CGTGTGTG others(19): Show CGTGTGTGTGTGTGTGTGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0124 a0001c0002t0124	a0001c0002t0124g0010 a0001c0002t0124g0010	1	320	0.0031	26	c.11 others(39): Show c.11255_*11280dupGTGTGTGTGTGTGTGTGTGTGTGTGT	HEMK1	ENSG00000114735.10	transcript	ENST00000232854.9	protein_coding	11/11	11281	INFO_REALIGN_3_PRIME	chr3	TogoVar
HEPHL1_chr11_94016354_94119208	94093971	G G	GATAGATA others(19): Show GATAGATAGATAGATAGATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0337 a0001c0001t0001g0337	1	368	0.0027	26	c.243 others(43): Show c.2434+334_2434+335insGATAGATAGATAGATATATATATATA	HEPHL1	ENSG00000181333.12	transcript	ENST00000315765.10	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
HEPHL1_chr11_94016354_94119208	94093971	G G	GATAGATA others(19): Show GATAGATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0277 a0001c0001t0003g0277	1	368	0.0027	26	c.243 others(43): Show c.2434+334_2434+335insGATATATATATATATATATATATATA	HEPHL1	ENSG00000181333.12	transcript	ENST00000315765.10	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
HEPHL1_chr11_94016354_94119208	94093971	G G	GATATATA others(19): Show GATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00609.hp1 HG02559.hp1 others(6): Show HG00323.hp1 HG00609.hp1 HG02559.hp1 HG02738.hp1 HG03225.hp2 NA18961.hp1 NA19030.hp1 NA19066.hp2 NA19089.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0006 a0004c0004 a0001c0001 a0001c0006 a0004c0004	a0001c0001t0001 a0001c0006t0006 a0004c0004t0001 a0001c0001t0001 a0001c0006t0006 a0004c0004t0001	a0001c0001t0001g0180 a0001c0001t0001g0215 a0001c0001t0001g0333 others(6): Show a0001c0001t0001g0180 a0001c0001t0001g0215 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0339 a0001c0001t0001g0349 a0001c0001t0001g0352 a0001c0006t0006g0303 a0004c0004t0001g0363	9	368	0.0245	26	c.243 others(43): Show c.2434+349_2434+374dupTATATATATATATATATATATATATA	HEPHL1	ENSG00000181333.12	transcript	ENST00000315765.10	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
HEPHL1_chr11_94016354_94119208	94115572	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0022 a0022	a0022c0031 a0022c0031	a0022c0031t0002 a0022c0031t0002	a0022c0031t0002g0278 a0022c0031t0002g0278	1	368	0.0027	26	c.36 others(37): Show c.3678_*3679insATATATATATATATATATATATATAT	HEPHL1	ENSG00000181333.12	transcript	ENST00000315765.10	protein_coding		1365		chr11	TogoVar
HERC1_chr15_63603618_63838948	63720103	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02280.hp2 NA18522.hp2 others(1): Show HG01109.hp1 HG02280.hp2 NA18522.hp2 NA19240.hp2	a0001 a0020 a0001 a0020	a0001c0001 a0020c0033 a0001c0001 a0020c0033	a0001c0001t0001 a0020c0033t0001 a0001c0001t0001 a0020c0033t0001	a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0164 others(1): Show a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0164 a0020c0033t0001g0101	4	216	0.0185	26	c.374 others(45): Show c.3743-1207_3743-1206insAAAAAAAAAAAAAAAAAAAAAAAAAA	HERC1	ENSG00000103657.14	transcript	ENST00000443617.7	protein_coding	19/77			chr15	TogoVar
HERC1_chr15_63603618_63838948	63821726	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0002 a0002	a0002c0019 a0002c0019	a0002c0019t0002 a0002c0019t0002	a0002c0019t0002g0094 a0002c0019t0002g0094	1	216	0.0046	26	c.-27 others(45): Show c.-27+12100_-27+12101insTTTTTTTTTTTTTTTTTTTTTTTTTT	HERC1	ENSG00000103657.14	transcript	ENST00000443617.7	protein_coding	1/77			chr15	TogoVar
HERC1_chr15_63603618_63838948	63826804	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	216	0.0046	26	c.-27 others(43): Show c.-27+7022_-27+7023insATATATATATATATATATATATATAT	HERC1	ENSG00000103657.14	transcript	ENST00000443617.7	protein_coding	1/77			chr15	TogoVar
HERC1_chr15_63603618_63838948	63829559	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	216	0.0046	26	c.-27 others(43): Show c.-27+4267_-27+4268insTATATATATATATATATATATATATA	HERC1	ENSG00000103657.14	transcript	ENST00000443617.7	protein_coding	1/77			chr15	TogoVar
HERC2_chr15_28106040_28327179	28279615	C C	CCACACAC others(19): Show CCACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0002 a0004c0012t0002	a0004c0012t0002g0006 a0004c0012t0002g0006	1	250	0.0040	26	c.542 others(41): Show c.542+427_542+452dupTGTGTGTGTGTGTGTGTGTGTGTGTG	HERC2	ENSG00000128731.18	transcript	ENST00000261609.13	protein_coding	5/92			chr15	TogoVar
HERPUD2_chr7_35627659_35700135	35631695	A A	AAAATATA others(19): Show AAAATATATAAATTATATATATTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	392	0.0026	26	c.19 others(37): Show c.1994_*1995insATATAATATATATAATTTATATATTT	HERPUD2	ENSG00000122557.11	transcript	ENST00000311350.8	protein_coding		963		chr7	TogoVar
HEXA_chr15_72335924_72381014	72340841	T T	TCACACAC others(19): Show TCACACACACACACACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18940.hp1 NA19074.hp1 NA18940.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0182 a0001c0001t0002g0002 a0001c0001t0002g0182	2	354	0.0057	26	c.32 others(37): Show c.3235_*3236insTGTGTGTGTGTGTGTGTGTGTGTGTG	HEXA	ENSG00000213614.11	transcript	ENST00000268097.10	protein_coding		82		chr15	TogoVar
HEXD_chr17_82413347_82447645	82433091	A A	AAAAAATA others(19): Show AAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0121 a0002c0002t0001g0121	1	400	0.0025	26	c.283 others(41): Show c.283-566_283-565insAAAATATATATATATATATATATATA	HEXD	ENSG00000169660.17	transcript	ENST00000327949.15	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
HEY1_chr8_79759010_79772767	79769371	A A	ATCTTTTT others(19): Show ATCTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	460	0.0022	26	c.-17 others(37): Show c.-1709_-1708insAAAAAAAAAAAAAAAAAAAAAAAAGA	HEY1	ENSG00000164683.19	transcript	ENST00000354724.8	protein_coding		1605		chr8	TogoVar
HFM1_chr1_91255766_91409837	91264361	A A	ATTTTTTT others(19): Show ATTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp1 NA19240.hp2 HG01081.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0207 a0002c0003t0001g0328 a0001c0001t0001g0207 a0002c0003t0001g0328	2	362	0.0055	26	c.397 others(45): Show c.3974+1630_3974+1655dupAAAAAAAAAAAAAAAAAAAAAAAAAA	HFM1	ENSG00000162669.16	transcript	ENST00000370425.8	protein_coding	36/38			chr1	TogoVar
HGD_chr3_120623172_120687239	120624712	G G	GGAGAGAG others(19): Show GGAGAGAGAGAGAGAGAGAGAGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG01081.hp2 HG01928.hp1 others(10): Show HG00639.hp2 HG01081.hp2 HG01928.hp1 HG01943.hp1 HG01952.hp1 HG01978.hp1 HG02004.hp2 HG02071.hp1 NA18986.hp1 NA19056.hp1 NA19066.hp1 NA19066.hp2 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 others(10): Show a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0107 a0001c0001t0001g0115 a0001c0001t0001g0235 a0002c0002t0001g0274 a0002c0002t0001g0276 a0002c0002t0001g0277 a0002c0002t0001g0278 a0002c0002t0001g0293 a0002c0002t0001g0325	13	374	0.0348	26	c.36 others(37): Show c.3667_*3668insTCTCTCTCTCTCTCTCTCTCTCTCTC	HGD	ENSG00000113924.12	transcript	ENST00000283871.10	protein_coding		3459		chr3	TogoVar
HGD_chr3_120623172_120687239	120630798	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	374	0.0027	26	c.118 others(45): Show c.1189-2295_1189-2270dupTATATATATATATATATATATATATA	HGD	ENSG00000113924.12	transcript	ENST00000283871.10	protein_coding	13/13			chr3	TogoVar
HGD_chr3_120623172_120687239	120630825	T T	TATATATA others(19): Show TATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0336 a0001c0001t0001g0336	1	374	0.0027	26	c.118 others(45): Show c.1189-2297_1189-2296insGTATATATATATATATATATATATAT	HGD	ENSG00000113924.12	transcript	ENST00000283871.10	protein_coding	13/13			chr3	TogoVar
HGF_chr7_81694010_81775047	81697198	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG02976.hp1 HG03704.hp1 others(2): Show HG02630.hp1 HG02976.hp1 HG03704.hp1 NA18955.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0005 a0001c0002t0004 a0001c0001t0002 a0001c0001t0005 a0001c0002t0004	a0001c0001t0002g0001 a0001c0001t0002g0153 a0001c0001t0002g0171 others(2): Show a0001c0001t0002g0001 a0001c0001t0002g0153 a0001c0001t0002g0171 a0001c0001t0005g0134 a0001c0002t0004g0256	5	272	0.0184	26	c.53 others(37): Show c.5382_*5383insTATATATATATATATATATATATATA	HGF	ENSG00000019991.18	transcript	ENST00000222390.11	protein_coding		1811		chr7	TogoVar
HHAT_chr1_210323902_210681290	210326926	C C	CATATATA others(19): Show CATATATATACATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG02258.hp2 HG00642.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0002t0012 a0001c0001t0007 a0001c0002t0012	a0001c0001t0007g0012 a0001c0002t0012g0068 a0001c0001t0007g0012 a0001c0002t0012g0068	2	268	0.0075	26	c.-22 others(37): Show c.-2222_-2221insATATATATACATATATATATATATAT	HHAT	ENSG00000054392.13	transcript	ENST00000261458.8	protein_coding		1975		chr1	TogoVar
HHAT_chr1_210323902_210681290	210326958	T T	TATATATA others(19): Show TATATATATACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0002 a0009c0011t0002	a0009c0011t0002g0131 a0009c0011t0002g0131	1	268	0.0037	26	c.-21 others(37): Show c.-2190_-2189insATATATATACACACACACACACACAC	HHAT	ENSG00000054392.13	transcript	ENST00000261458.8	protein_coding		1943		chr1	TogoVar
HHAT_chr1_210323902_210681290	210326958	T T	TATATATA others(19): Show TATATATATATATATATATATACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 NA19090.hp2 HG02976.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0009 a0001c0006t0004 a0001c0001t0009 a0001c0006t0004	a0001c0001t0009g0161 a0001c0006t0004g0177 a0001c0001t0009g0161 a0001c0006t0004g0177	2	268	0.0075	26	c.-21 others(37): Show c.-2190_-2189insATATATATATATATATATATACACAC	HHAT	ENSG00000054392.13	transcript	ENST00000261458.8	protein_coding		1943		chr1	TogoVar
HHAT_chr1_210323902_210681290	210326958	T T	TATATATA others(19): Show TATATATATATATATATATATATACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0165 a0004c0005t0001g0165	1	268	0.0037	26	c.-21 others(37): Show c.-2190_-2189insATATATATATATATATATATATACAC	HHAT	ENSG00000054392.13	transcript	ENST00000261458.8	protein_coding		1943		chr1	TogoVar
HHAT_chr1_210323902_210681290	210327292	T T	TACCCAGG others(19): Show TACCCAGGATGTAAATTTGAATTTCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0230 a0002c0003t0001g0230	1	268	0.0037	26	c.-18 others(37): Show c.-1856_-1855insACCCAGGATGTAAATTTGAATTTCAG	HHAT	ENSG00000054392.13	transcript	ENST00000261458.8	protein_coding		1609		chr1	TogoVar
HHAT_chr1_210323902_210681290	210334178	A A	ATTTTTTT others(19): Show ATTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG04199.hp1 HG03831.hp2 HG04199.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0003 a0003c0004t0003 a0001c0001t0003 a0003c0004t0003	a0001c0001t0003g0138 a0003c0004t0003g0137 a0001c0001t0003g0138 a0003c0004t0003g0137	2	268	0.0075	26	c.-44 others(43): Show c.-44+5094_-44+5095insTTTTTTTTTTTTTTTTTTTTTTTTTT	HHAT	ENSG00000054392.13	transcript	ENST00000261458.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
HHAT_chr1_210323902_210681290	210535431	T T	TTGTGTGT others(19): Show TTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0214 a0001c0001t0019g0214	1	268	0.0037	26	c.104 others(47): Show c.1043+22267_1043+22268insTGTGTGTGTGTGTGTGTGTGTGTG TG	HHAT	ENSG00000054392.13	transcript	ENST00000261458.8	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
HHAT_chr1_210323902_210681290	210601937	C C	CAGAGAGA others(19): Show CAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01074.hp2 HG01169.hp1 others(6): Show HG00733.hp2 HG01074.hp2 HG01169.hp1 HG01255.hp1 HG01981.hp1 HG02040.hp2 HG02135.hp2 HG03669.hp1 NA19074.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0002c0003t0020	a0001c0001t0001g0185 a0001c0001t0001g0233 a0001c0001t0002g0086 others(6): Show a0001c0001t0001g0185 a0001c0001t0001g0233 a0001c0001t0002g0086 a0001c0001t0002g0105 a0001c0001t0003g0154 a0001c0001t0004g0178 a0001c0002t0001g0028 a0001c0002t0001g0056 a0002c0003t0020g0263	9	268	0.0336	26	c.124 others(47): Show c.1245+13858_1245+13859insAGAGAGAGAGAGAGAGAGAGAGAG AG	HHAT	ENSG00000054392.13	transcript	ENST00000261458.8	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
HIC1_chr17_2050103_2068241	2066652	T T	TACACACA others(19): Show TACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19070.hp2 NA19072.hp2 NA19070.hp2 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0057 a0001c0001t0001 a0001c0001t0057	a0001c0001t0001g0001 a0001c0001t0057g0001 a0001c0001t0001g0001 a0001c0001t0057g0001	2	414	0.0048	26	c.78 others(37): Show c.7817_*7818insACACACACACACACACACACACACAC	HIC1	ENSG00000177374.13	transcript	ENST00000619757.5	protein_coding		3412		chr17	TogoVar
HIKESHI_chr11_86297240_86350943	86318303	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01884.hp1 HG02083.hp1 others(12): Show HG01071.hp2 HG01884.hp1 HG02083.hp1 HG02129.hp2 HG02145.hp2 HG03927.hp2 NA18612.hp2 NA18954.hp2 NA18961.hp1 NA18962.hp2 NA18963.hp1 NA18977.hp2 NA18999.hp1 NA19003.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0016 a0001c0001t0001g0026 others(9): Show a0001c0001t0001g0003 a0001c0001t0001g0016 a0001c0001t0001g0026 a0001c0001t0001g0045 a0001c0001t0001g0082 a0001c0001t0001g0123 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0255 a0001c0001t0001g0260 a0001c0001t0001g0280	15	398	0.0377	26	c.268 others(45): Show c.268+11841_268+11842insAAAAAAAAAAAAAAAAAAAAAAAAAA	HIKESHI	ENSG00000149196.17	transcript	ENST00000278483.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
HINT3_chr6_125951770_125985244	125962149	C C	CATATATA others(19): Show CATATATATATACACATATATATATAT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01257.hp2 others(1): Show HG01069.hp1 HG01071.hp2 HG01257.hp2 HG01258.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0013 a0002c0002t0002g0014 a0002c0002t0002g0013 a0002c0002t0002g0014	4	268	0.0149	26	c.202 others(43): Show c.202-4702_202-4677dupTACACATATATATATATATATATATA	HINT3	ENSG00000111911.7	transcript	ENST00000229633.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
HIP1R_chr12_122830457_122867961	122865058	T T	TACTTGGA others(19): Show TACTTGGACACCCTCTTGGACACCCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	348	0.0029	26	c.33 others(37): Show c.3305_*3306insACTTGGACACCCTCTTGGACACCCTA	HIP1R	ENSG00000130787.14	transcript	ENST00000253083.9	protein_coding		2098		chr12	TogoVar
HIP1_chr7_75528298_75743941	75595283	C C	CCTTCCTT others(19): Show CCTTCCTTCCTTTCTTTCTTTTTCTCT	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01993.hp1 HG02145.hp1 others(5): Show HG01516.hp2 HG01993.hp1 HG02145.hp1 HG02615.hp1 HG02976.hp2 HG03486.hp2 HG04228.hp1 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0001c0002t0011 a0001c0003t0016	a0001c0001t0001g0172 a0001c0001t0001g0247 a0001c0001t0002g0042 others(5): Show a0001c0001t0001g0172 a0001c0001t0001g0247 a0001c0001t0002g0042 a0001c0001t0004g0044 a0001c0002t0001g0052 a0001c0002t0001g0230 a0001c0002t0011g0102 a0001c0003t0016g0137	8	254	0.0315	26	c.185 others(43): Show c.185-2770_185-2769insAGAGAAAAAGAAAGAAAGGAAGGAAG	HIP1	ENSG00000127946.17	transcript	ENST00000336926.11	protein_coding	2/30			chr7	TogoVar
HIPK3_chr11_33252381_33362023	33301821	G G	GACACACA others(19): Show GACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01884.hp1 HG01981.hp2 others(5): Show HG01167.hp1 HG01884.hp1 HG01981.hp2 HG02027.hp2 HG03130.hp1 HG03688.hp2 NA19009.hp2 NA19067.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0011 a0001c0001 a0004c0011	a0001c0001t0001 a0001c0001t0004 a0001c0001t0024 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0024 a0004c0011t0001	a0001c0001t0001g0020 a0001c0001t0001g0148 a0001c0001t0001g0157 others(5): Show a0001c0001t0001g0020 a0001c0001t0001g0148 a0001c0001t0001g0157 a0001c0001t0001g0162 a0001c0001t0001g0199 a0001c0001t0004g0114 a0001c0001t0024g0103 a0004c0011t0001g0025	8	342	0.0234	26	c.109 others(47): Show c.1097+14319_1097+14344dupACACACACACACACACACACACAC AC	HIPK3	ENSG00000110422.12	transcript	ENST00000303296.9	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr11	TogoVar
HIRA_chr22_19325698_19436733	19386071	G G	GGGGGGGG others(19): Show GGGGGGGGGGGGGGGGGGGGGGGGACT	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	364	0.0028	26	c.111 others(43): Show c.1114-336_1114-335insAGTCCCCCCCCCCCCCCCCCCCCCCC	HIRA	ENSG00000100084.14	transcript	ENST00000263208.5	protein_coding	11/24			chr22	TogoVar
HIVEP1_chr6_12007312_12169999	12046845	C C	CTGTGTGT others(19): Show CTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02647.hp2 NA19064.hp2 HG02647.hp2 NA19064.hp2	a0001 a0002 a0001 a0002	a0001c0005 a0002c0011 a0001c0005 a0002c0011	a0001c0005t0001 a0002c0011t0001 a0001c0005t0001 a0002c0011t0001	a0001c0005t0001g0230 a0002c0011t0001g0139 a0001c0005t0001g0230 a0002c0011t0001g0139	2	344	0.0058	26	c.40+ others(43): Show c.40+31183_40+31208dupGTGTGTGTGTGTGTGTGTGTGTGTGT	HIVEP1	ENSG00000095951.17	transcript	ENST00000379388.7	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
HIVEP1_chr6_12007312_12169999	12051016	A A	ATATATAT others(19): Show ATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0017 a0017	a0017c0037 a0017c0037	a0017c0037t0001 a0017c0037t0001	a0017c0037t0001g0322 a0017c0037t0001g0322	1	344	0.0029	26	c.40+ others(43): Show c.40+35363_40+35364insATATATATATGTATATATATATATAT	HIVEP1	ENSG00000095951.17	transcript	ENST00000379388.7	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr6	TogoVar

Search by Variant

Search

Search Results