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
HS6ST2_chrX_132621015_132963629	132839299	TATATATA others(11): Show TATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01109.hp1 HG01169.hp2 others(32): Show HG00621.hp1 HG01109.hp1 HG01169.hp2 HG01891.hp2 HG02056.hp1 HG02622.hp2 HG02698.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG03139.hp1 HG03195.hp1 HG03239.hp2 HG03540.hp2 HG03669.hp2 HG03704.hp2 HG03710.hp1 HG03834.hp2 HG04115.hp1 HG04199.hp1 HG04228.hp1 NA18906.hp1 NA18955.hp1 NA18957.hp1 NA18975.hp1 NA18990.hp1 NA19000.hp1 NA19001.hp2 NA19030.hp1 NA19065.hp1 NA19068.hp1 NA19074.hp1 NA19089.hp2 NA20300.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0006t0007	a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0057 others(32): Show a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0057 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0066 a0001c0001t0002g0017 a0001c0001t0002g0020 a0001c0001t0002g0023 a0001c0001t0002g0031 a0001c0001t0002g0037 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0052 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0063 a0001c0001t0002g0071 a0001c0001t0002g0074 a0001c0001t0002g0077 a0001c0001t0002g0083 a0001c0001t0002g0091 a0001c0001t0002g0197 a0001c0001t0003g0078 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0003g0090 a0001c0001t0003g0128 a0001c0001t0004g0022 a0001c0002t0001g0079 a0001c0006t0007g0050	35	201	0.1741	-18	c.947 others(39): Show c.947+117491_947+117508delGTATATATATATATATAT	HS6ST2	ENSG00000171004.19	transcript	ENST00000370833.7	protein_coding	2/4			chrX	TogoVar
HS6ST3_chr13_96085107_96844562	96112578	AATATATA others(11): Show AATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01071.hp2 HG01361.hp1 others(7): Show HG00099.hp2 HG01071.hp2 HG01361.hp1 HG02809.hp1 HG02965.hp2 HG02970.hp1 HG03834.hp1 NA18943.hp2 NA19007.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0001t0026	a0001c0001t0001g0005 a0001c0001t0001g0077 a0001c0001t0001g0091 others(7): Show a0001c0001t0001g0005 a0001c0001t0001g0077 a0001c0001t0001g0091 a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0089 a0001c0001t0003g0003 a0001c0001t0004g0018 a0001c0001t0010g0019 a0001c0001t0026g0081	10	116	0.0862	-18	c.707 others(37): Show c.707+21036_707+21053delATATATATATATATATAT	HS6ST3	ENSG00000185352.10	transcript	ENST00000376705.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr13	TogoVar
HS6ST3_chr13_96085107_96844562	96118645	GATATATA others(11): Show GATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01515.hp2 HG01071.hp1 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0067 a0001c0001t0003g0069 a0001c0001t0001g0067 a0001c0001t0003g0069	2	116	0.0172	-18	c.707 others(37): Show c.707+27103_707+27120delATATATATATATATATAT	HS6ST3	ENSG00000185352.10	transcript	ENST00000376705.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr13	TogoVar
HS6ST3_chr13_96085107_96844562	96118672	ATATATAT others(11): Show ATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01496.hp2 HG00099.hp1 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0034 a0001c0001t0011 a0001c0001t0034	a0001c0001t0011g0058 a0001c0001t0034g0047 a0001c0001t0011g0058 a0001c0001t0034g0047	2	116	0.0172	-18	c.707 others(37): Show c.707+27105_707+27122delATATATATATATATATTT	HS6ST3	ENSG00000185352.10	transcript	ENST00000376705.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr13	TogoVar
HS6ST3_chr13_96085107_96844562	96118674	ATATATAT others(11): Show ATATATATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0057 a0001c0001t0003g0057	1	116	0.0086	-18	c.707 others(37): Show c.707+27107_707+27124delATATATATATATATTTTT	HS6ST3	ENSG00000185352.10	transcript	ENST00000376705.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr13	TogoVar
HS6ST3_chr13_96085107_96844562	96118678	ATATATAT others(11): Show ATATATATATATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	116	0.0086	-18	c.707 others(37): Show c.707+27111_707+27128delATATATATATTTTTTTTT	HS6ST3	ENSG00000185352.10	transcript	ENST00000376705.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr13	TogoVar
HS6ST3_chr13_96085107_96844562	96136682	CATATATA others(11): Show CATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02486.hp1 HG02896.hp2 others(3): Show HG01884.hp2 HG02486.hp1 HG02896.hp2 HG02897.hp1 NA18906.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0012 others(2): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0012 a0001c0001t0022 a0001c0001t0028	a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0008g0072 others(3): Show a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0008g0072 a0001c0001t0012g0080 a0001c0001t0022g0078 a0001c0001t0028g0076	6	116	0.0517	-18	c.707 others(37): Show c.707+45133_707+45150delTATATATATATATATATA	HS6ST3	ENSG00000185352.10	transcript	ENST00000376705.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr13	TogoVar
HS6ST3_chr13_96085107_96844562	96254432	AAAAAAAA others(11): Show AAAAAAAAAAAAAAAAAAT	A A	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0088 a0001c0001t0002g0088	1	116	0.0086	-18	c.707 others(39): Show c.707+162865_707+162882delAAAAAAAAAAAAAAAATA	HS6ST3	ENSG00000185352.10	transcript	ENST00000376705.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr13	TogoVar
HS6ST3_chr13_96085107_96844562	96254438	AAAAAAAA others(11): Show AAAAAAAAAAAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0113 a0001c0001t0002g0113	1	116	0.0086	-18	c.707 others(39): Show c.707+162871_707+162888delAAAAAAAAAATATATATA	HS6ST3	ENSG00000185352.10	transcript	ENST00000376705.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr13	TogoVar
HS6ST3_chr13_96085107_96844562	96254482	TATATATA others(11): Show TATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03130.hp1 HG01109.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0035 a0001c0001t0013 a0001c0001t0035	a0001c0001t0013g0108 a0001c0001t0035g0106 a0001c0001t0013g0108 a0001c0001t0035g0106	2	116	0.0172	-18	c.707 others(39): Show c.707+162915_707+162932delTATATATATATATATACA	HS6ST3	ENSG00000185352.10	transcript	ENST00000376705.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr13	TogoVar
HS6ST3_chr13_96085107_96844562	96274839	TCACACAC others(11): Show TCACACACACACACACACA	T T	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0088 a0001c0001t0002g0088	1	116	0.0086	-18	c.707 others(39): Show c.707+183308_707+183325delACACACACACACACACAC	HS6ST3	ENSG00000185352.10	transcript	ENST00000376705.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr13	TogoVar
HS6ST3_chr13_96085107_96844562	96317326	TTATATAT others(11): Show TTATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01261.hp2 HG01361.hp1 others(12): Show HG00558.hp2 HG01261.hp2 HG01361.hp1 HG01884.hp2 HG02486.hp1 HG02647.hp2 HG02809.hp1 HG02896.hp1 HG03098.hp2 HG03195.hp2 NA18943.hp1 NA19043.hp2 NA19090.hp2 NA20300.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0001t0025 a0001c0001t0028	a0001c0001t0001g0005 a0001c0001t0001g0043 a0001c0001t0001g0065 others(12): Show a0001c0001t0001g0005 a0001c0001t0001g0043 a0001c0001t0001g0065 a0001c0001t0001g0077 a0001c0001t0002g0042 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0113 a0001c0001t0005g0013 a0001c0001t0007g0007 a0001c0001t0007g0012 a0001c0001t0008g0015 a0001c0001t0012g0080 a0001c0001t0025g0008 a0001c0001t0028g0076	15	116	0.1293	-18	c.707 others(39): Show c.707+225782_707+225799delTATATATATATATATATA	HS6ST3	ENSG00000185352.10	transcript	ENST00000376705.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr13	TogoVar
HS6ST3_chr13_96085107_96844562	96317351	TATATATA others(11): Show TATATATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01074.hp1 HG00099.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0034 a0001c0001t0011 a0001c0001t0034	a0001c0001t0011g0039 a0001c0001t0034g0047 a0001c0001t0011g0039 a0001c0001t0034g0047	2	116	0.0172	-18	c.707 others(39): Show c.707+225784_707+225801delTATATATATATATATAAA	HS6ST3	ENSG00000185352.10	transcript	ENST00000376705.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr13	TogoVar
HS6ST3_chr13_96085107_96844562	96355358	TACACACA others(11): Show TACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG04204.hp1 HG02896.hp2 HG02897.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0003g0101 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0003g0101	3	116	0.0259	-18	c.707 others(39): Show c.707+263817_707+263834delCACACACACACACACACA	HS6ST3	ENSG00000185352.10	transcript	ENST00000376705.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr13	TogoVar
HS6ST3_chr13_96085107_96844562	96355386	CACACACA others(11): Show CACACACACACACACACAA	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02258.hp1 HG03130.hp1 others(1): Show HG01109.hp2 HG02258.hp1 HG03130.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0013 a0001c0001t0035 a0001c0001t0002 a0001c0001t0013 a0001c0001t0035	a0001c0001t0002g0031 a0001c0001t0013g0107 a0001c0001t0013g0108 others(1): Show a0001c0001t0002g0031 a0001c0001t0013g0107 a0001c0001t0013g0108 a0001c0001t0035g0106	4	116	0.0345	-18	c.707 others(39): Show c.707+263825_707+263842delCACACACACAAACACACA	HS6ST3	ENSG00000185352.10	transcript	ENST00000376705.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr13	TogoVar
HS6ST3_chr13_96085107_96844562	96468983	ATTTTTCT others(11): Show ATTTTTCTAATGAAAATAT	A A	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0016 a0001c0001t0004g0016	1	116	0.0086	-18	c.708 others(39): Show c.708-363486_708-363469delTTTCTAATGAAAATATTT	HS6ST3	ENSG00000185352.10	transcript	ENST00000376705.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr13	TogoVar
HS6ST3_chr13_96085107_96844562	96668686	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02970.hp2 HG02809.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0114 a0001c0001t0001g0077 a0001c0001t0001g0114	2	116	0.0172	-18	c.708 others(39): Show c.708-163781_708-163764delTTTTTTTTTTTTTTTTTT	HS6ST3	ENSG00000185352.10	transcript	ENST00000376705.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr13	TogoVar
HS6ST3_chr13_96085107_96844562	96739219	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0014 a0001c0001t0019g0014	1	116	0.0086	-18	c.708 others(37): Show c.708-93229_708-93212delGTGTGTGTGTGTGTGTGT	HS6ST3	ENSG00000185352.10	transcript	ENST00000376705.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr13	TogoVar
HSBP1L1_chr18_79959643_79975822	79963266	CCACCCGA others(11): Show CCACCCGACTTTTTCACAG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 NA18522.hp1 HG02630.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0181 a0001c0001t0006g0073 a0001c0001t0001g0181 a0001c0001t0006g0073	2	412	0.0049	-18	c.-14 others(29): Show c.-1469_-1452delCACCCGACTTTTTCACAG	HSBP1L1	ENSG00000226742.4	transcript	ENST00000451882.3	protein_coding		1376		chr18	TogoVar
HSBP1L1_chr18_79959643_79975822	79969313	GAAAGAAA others(11): Show GAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0075 a0001c0001t0006g0075	1	412	0.0024	-18	c.214 others(35): Show c.214-1107_214-1090delAAGAAAGAAAGAAAGAAA	HSBP1L1	ENSG00000226742.4	transcript	ENST00000451882.3	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
HSD11B1L_chr19_5676027_5693522	5684637	TGCGGTGG others(11): Show TGCGGTGGTTCATGGAGCC	T T	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01891.hp2 HG01934.hp1 others(9): Show HG00741.hp1 HG01891.hp2 HG01934.hp1 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02630.hp1 HG03098.hp1 HG03195.hp1 HG03516.hp1 HG03579.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 a0001c0001t0001 a0001c0001t0003 a0002c0002t0001	a0001c0001t0001g0018 a0001c0001t0001g0032 a0001c0001t0001g0034 others(6): Show a0001c0001t0001g0018 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0043 a0001c0001t0001g0065 a0001c0001t0003g0019 a0002c0002t0001g0020	12	382	0.0314	-18	c.-14 others(33): Show c.-14-163_-14-146delGCGGTGGTTCATGGAGCC	HSD11B1L	ENSG00000167733.14	transcript	ENST00000339423.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
HSD17B11_chr4_87331515_87396188	87357949	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02486.hp2 HG02572.hp2 others(6): Show HG01192.hp2 HG02486.hp2 HG02572.hp2 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02886.hp2 HG02896.hp1 HG03139.hp2	a0001 a0001	a0001c0003 a0001c0006 a0001c0003 a0001c0006	a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 others(2): Show a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0013 a0001c0006t0004	a0001c0003t0002g0028 a0001c0003t0003g0131 a0001c0003t0003g0132 others(6): Show a0001c0003t0002g0028 a0001c0003t0003g0131 a0001c0003t0003g0132 a0001c0003t0003g0133 a0001c0003t0004g0344 a0001c0003t0004g0364 a0001c0003t0004g0365 a0001c0003t0013g0009 a0001c0006t0004g0368	9	390	0.0231	-18	c.558 others(33): Show c.558-551_558-534delAAAAAAAAAAAAAAAAAA	HSD17B11	ENSG00000198189.11	transcript	ENST00000358290.9	protein_coding	4/6			chr4	TogoVar
HSD17B11_chr4_87331515_87396188	87378911	TATATATA others(11): Show TATATATAAATATATATAA	T T	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0097 a0001c0001t0003g0097	1	390	0.0026	-18	c.318 others(35): Show c.318+3326_318+3343delTTATATATATTTATATAT	HSD17B11	ENSG00000198189.11	transcript	ENST00000358290.9	protein_coding	2/6			chr4	TogoVar
HSD17B12_chr11_43675738_43861615	43784301	ATATTATT others(11): Show ATATTATTATTATTATTAT	A A	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	280	0.0036	-18	c.284 others(37): Show c.284-13990_284-13973delATTATTATTATTATTATT	HSD17B12	ENSG00000149084.13	transcript	ENST00000278353.10	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
HSD17B12_chr11_43675738_43861615	43816980	ATATATCT others(11): Show ATATATCTATATCTATATC	A A	intron_variant intron_variant	MODIFIER	HG00609.hp2 NA18612.hp2 NA18747.hp1 others(5): Show HG00609.hp2 NA18612.hp2 NA18747.hp1 NA18964.hp2 NA19005.hp1 NA19007.hp1 NA19070.hp1 NA20129.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0006 a0001c0001 a0002c0002 a0005c0006	a0001c0001t0003 a0002c0002t0002 a0005c0006t0012 a0001c0001t0003 a0002c0002t0002 a0005c0006t0012	a0001c0001t0003g0012 a0001c0001t0003g0014 a0001c0001t0003g0016 others(5): Show a0001c0001t0003g0012 a0001c0001t0003g0014 a0001c0001t0003g0016 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0066 a0002c0002t0002g0193 a0005c0006t0012g0020	8	280	0.0286	-18	c.501 others(33): Show c.501+637_501+654delCTATATCTATATCTATAT	HSD17B12	ENSG00000149084.13	transcript	ENST00000278353.10	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
HSD17B13_chr4_87298794_87327882	87308485	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03491.hp2 NA18953.hp1 others(1): Show HG03239.hp1 HG03491.hp2 NA18953.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0010 a0001c0001t0001 a0001c0001t0008 a0001c0001t0010	a0001c0001t0001g0096 a0001c0001t0001g0123 a0001c0001t0008g0234 others(1): Show a0001c0001t0001g0096 a0001c0001t0001g0123 a0001c0001t0008g0234 a0001c0001t0010g0320	4	442	0.0091	-18	c.812 others(35): Show c.812+1740_812+1757delTTTTTTTTTTTTTTTTTT	HSD17B13	ENSG00000170509.12	transcript	ENST00000328546.5	protein_coding	6/6			chr4	TogoVar
HSD17B1_chr17_42547923_42560214	42554319	TGGTTGGG others(11): Show TGGTTGGGGCTGGGACTGG	T T	intron_variant intron_variant	MODIFIER	HG01952.hp1 NA18612.hp1 HG01952.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	2	422	0.0047	-18	c.540 others(31): Show c.540-65_540-48delTTGGGGCTGGGACTGGGG	HSD17B1	ENSG00000108786.11	transcript	ENST00000585807.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr17	TogoVar
HSD17B2_chr16_82030253_82103534	82097206	ATATGTCT others(11): Show ATATGTCTATGTCTATGTC	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp2 HG00438.hp1 others(69): Show HG00280.hp1 HG00423.hp2 HG00438.hp1 HG00597.hp2 HG00639.hp2 HG00741.hp2 HG01099.hp1 HG01167.hp1 HG01192.hp1 HG01243.hp1 HG01346.hp2 HG01433.hp1 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01928.hp1 HG01943.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG02055.hp2 HG02071.hp2 HG02074.hp2 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02273.hp1 HG02273.hp2 HG02486.hp2 HG02523.hp1 HG02572.hp2 HG02630.hp1 HG03017.hp2 HG03098.hp2 HG03239.hp1 HG03239.hp2 HG03491.hp2 HG03492.hp2 HG04184.hp1 NA18612.hp2 NA18906.hp1 NA18939.hp1 NA18942.hp2 NA18945.hp1 NA18950.hp1 NA18952.hp1 NA18954.hp1 NA18960.hp2 NA18973.hp2 NA18974.hp2 NA18985.hp2 NA18988.hp1 NA18989.hp1 NA18991.hp1 NA18994.hp2 NA18998.hp2 NA19003.hp2 NA19007.hp2 NA19011.hp2 NA19057.hp1 NA19058.hp2 NA19062.hp1 NA19066.hp2 NA19067.hp2 NA19068.hp1 NA19070.hp1 NA19076.hp1 NA19080.hp2 NA19083.hp1 NA19084.hp1 NA19088.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0011 a0001c0001 a0001c0002 a0001c0011	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0011t0001	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0014 others(64): Show a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0018 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0040 a0001c0001t0001g0056 a0001c0001t0001g0061 a0001c0001t0001g0150 a0001c0001t0001g0170 a0001c0001t0001g0184 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0266 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0278 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0287 a0001c0001t0001g0291 a0001c0001t0001g0293 a0001c0001t0001g0303 a0001c0001t0001g0327 a0001c0001t0002g0049 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0112 a0001c0001t0002g0128 a0001c0001t0002g0141 a0001c0001t0002g0164 a0001c0002t0001g0074 a0001c0002t0001g0294 a0001c0011t0001g0334	72	366	0.1967	-18	c.803 others(33): Show c.803-821_803-804delCTATGTCTATGTCTATGT	HSD17B2	ENSG00000086696.11	transcript	ENST00000199936.9	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
HSD17B3_chr9_96230306_96307176	96255367	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00544.hp1 HG00621.hp2 others(60): Show HG00408.hp2 HG00544.hp1 HG00621.hp2 HG00639.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01167.hp2 HG01169.hp2 HG01255.hp1 HG01496.hp2 HG01993.hp2 HG02015.hp1 HG02027.hp2 HG02040.hp1 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02132.hp1 HG02257.hp1 HG02280.hp2 HG02451.hp1 HG02523.hp2 HG02622.hp2 HG02698.hp1 HG02698.hp2 HG02738.hp1 HG02970.hp2 HG03130.hp2 HG03453.hp2 HG03486.hp1 HG03704.hp2 HG03710.hp2 HG04204.hp2 NA18612.hp1 NA18942.hp1 NA18946.hp1 NA18953.hp1 NA18954.hp2 NA18963.hp1 NA18966.hp1 NA18969.hp1 NA18975.hp2 NA18980.hp2 NA18989.hp1 NA18991.hp1 NA18991.hp2 NA18994.hp2 NA19003.hp1 NA19004.hp1 NA19009.hp1 NA19054.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp2 NA19074.hp1 NA19076.hp2 NA19080.hp2 NA19082.hp1 NA19084.hp2 NA19087.hp2 NA20752.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0007 a0008 a0009	a0001c0001 a0002c0002 a0003c0003 others(3): Show a0001c0001 a0002c0002 a0003c0003 a0007c0006 a0008c0011 a0009c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0003c0003t0004 a0007c0006t0004 a0008c0011t0001 a0009c0005t0002	a0001c0001t0001g0125 a0001c0001t0001g0145 a0001c0001t0001g0149 others(60): Show a0001c0001t0001g0125 a0001c0001t0001g0145 a0001c0001t0001g0149 a0001c0001t0001g0155 a0001c0001t0001g0176 a0001c0001t0001g0180 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0193 a0001c0001t0002g0279 a0001c0001t0002g0290 a0001c0001t0002g0355 a0001c0001t0002g0368 a0001c0001t0003g0228 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0077 a0002c0002t0001g0094 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0099 a0002c0002t0001g0105 a0002c0002t0001g0118 a0002c0002t0001g0126 a0002c0002t0001g0143 a0002c0002t0001g0144 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0172 a0002c0002t0001g0185 a0002c0002t0001g0224 a0002c0002t0002g0277 a0002c0002t0002g0278 a0002c0002t0002g0280 a0002c0002t0002g0284 a0002c0002t0002g0288 a0002c0002t0002g0301 a0002c0002t0002g0302 a0002c0002t0002g0314 a0002c0002t0002g0317 a0002c0002t0002g0318 a0002c0002t0002g0324 a0002c0002t0002g0325 a0002c0002t0002g0326 a0002c0002t0002g0327 a0002c0002t0002g0328 a0002c0002t0002g0333 a0002c0002t0002g0338 a0002c0002t0002g0350 a0002c0002t0002g0353 a0002c0002t0002g0354 a0002c0002t0002g0369 a0002c0002t0002g0370 a0002c0002t0002g0371 a0002c0002t0002g0372 a0002c0002t0003g0246 a0002c0002t0003g0250 a0003c0003t0004g0260 a0003c0003t0004g0265 a0003c0003t0004g0268 a0007c0006t0004g0257 a0008c0011t0001g0178 a0009c0005t0002g0272	63	374	0.1685	-18	c.202 others(33): Show c.202-442_202-425delAAAAAAAAAAAAAAAAAA	HSD17B3	ENSG00000130948.10	transcript	ENST00000375263.8	protein_coding	2/10			chr9	TogoVar
HSD17B3_chr9_96230306_96307176	96273247	TAGTCCAC others(11): Show TAGTCCACACACCCCCATA	T T	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0009 a0009	a0009c0005 a0009c0005	a0009c0005t0002 a0009c0005t0002	a0009c0005t0002g0272 a0009c0005t0002g0272	1	374	0.0027	-18	c.202 others(37): Show c.202-18322_202-18305delTATGGGGGTGTGTGGACT	HSD17B3	ENSG00000130948.10	transcript	ENST00000375263.8	protein_coding	2/10			chr9	TogoVar
HSD3B1_chr1_119502210_119520054	119510712	GTTTTCTT others(11): Show GTTTTCTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG02145.hp1 HG02145.hp2 others(13): Show HG01928.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp2 HG02486.hp1 HG02630.hp1 HG02809.hp2 HG02965.hp2 HG03139.hp1 HG03195.hp1 HG03225.hp1 HG03471.hp1 HG03704.hp2 NA19030.hp2 NA19043.hp2 NA19240.hp1	a0003 a0003	a0003c0004 a0003c0005 a0003c0004 a0003c0005	a0003c0004t0001 a0003c0005t0001 a0003c0004t0001 a0003c0005t0001	a0003c0004t0001g0027 a0003c0004t0001g0028 a0003c0004t0001g0055 others(5): Show a0003c0004t0001g0027 a0003c0004t0001g0028 a0003c0004t0001g0055 a0003c0004t0001g0056 a0003c0004t0001g0057 a0003c0004t0001g0058 a0003c0004t0001g0061 a0003c0005t0001g0017	16	410	0.0390	-18	c.146 others(33): Show c.146-786_146-769delCTTTTTTTTTTTTTTTTT	HSD3B1	ENSG00000203857.10	transcript	ENST00000369413.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
HSD3B1_chr1_119502210_119520054	119510717	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02717.hp1 HG02258.hp2 HG02717.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0042 a0001c0002t0001g0042	2	410	0.0049	-18	c.146 others(33): Show c.146-766_146-749delTTTTTTTTTTTTTTTTTT	HSD3B1	ENSG00000203857.10	transcript	ENST00000369413.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
HSD3B2_chr1_119410150_119428034	119418617	TTTATTAT others(11): Show TTTATTATTATTACTATTA	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03098.hp2 HG03195.hp1 others(1): Show HG02258.hp2 HG03098.hp2 HG03195.hp1 HG03471.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0003 a0002c0003t0003 a0001c0001t0003 a0002c0003t0003	a0001c0001t0003g0030 a0002c0003t0003g0068 a0001c0001t0003g0030 a0002c0003t0003g0068	4	442	0.0091	-18	c.143 others(33): Show c.143-788_143-771delCTATTATTATTATTATTA	HSD3B2	ENSG00000203859.10	transcript	ENST00000369416.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
HSD3B7_chr16_30980207_30994147	30982647	TCAGGAGA others(11): Show TCAGGAGAGGGTCCTTCCG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00408.hp2 HG00544.hp1 others(106): Show HG00323.hp2 HG00408.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00738.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01123.hp1 HG01168.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01934.hp2 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02040.hp2 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02257.hp2 HG02273.hp2 HG02280.hp1 HG02300.hp1 HG02523.hp1 HG02523.hp2 HG02698.hp1 HG02922.hp2 HG03239.hp2 HG03540.hp1 HG03669.hp1 HG03669.hp2 HG04184.hp1 NA18747.hp2 NA18939.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18963.hp1 NA18963.hp2 NA18968.hp1 NA18970.hp1 NA18970.hp2 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18992.hp1 NA18992.hp2 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19002.hp2 NA19009.hp1 NA19009.hp2 NA19012.hp2 NA19057.hp1 NA19059.hp2 NA19063.hp1 NA19070.hp1 NA19070.hp2 NA19076.hp1 NA19076.hp2 NA19078.hp1 NA19081.hp1 NA19085.hp1 NA19088.hp1 NA19089.hp1 NA19089.hp2 NA19091.hp1 NA20129.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0011 a0001c0001 a0007c0011	a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 a0007c0011t0001	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0012 others(5): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0007g0001 a0001c0001t0008g0001 a0007c0011t0001g0001	109	314	0.3471	-18	c.-26 others(29): Show c.-2656_-2639delCAGGAGAGGGTCCTTCCG	HSD3B7	ENSG00000099377.14	transcript	ENST00000297679.10	protein_coding		2559		chr16	TogoVar
HSDL2_chr9_112375108_112477405	112464213	GACACACA others(11): Show GACACACACACAGACACAC	G G	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01168.hp1 HG01243.hp1 others(46): Show HG01099.hp2 HG01168.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01433.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02486.hp2 HG02622.hp2 HG02723.hp1 HG02886.hp1 HG02965.hp1 HG03130.hp1 HG03209.hp2 HG03225.hp2 HG03486.hp2 HG03516.hp2 HG03540.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18944.hp1 NA18945.hp1 NA18948.hp1 NA18950.hp1 NA18951.hp1 NA18953.hp2 NA18954.hp1 NA18964.hp1 NA18969.hp2 NA18970.hp1 NA18972.hp2 NA18979.hp1 NA18981.hp1 NA18993.hp2 NA18998.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp2 NA19054.hp1 NA19067.hp2 NA19081.hp2 NA19082.hp1 NA19085.hp2 NA20129.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0002c0003t0002	a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0014 others(44): Show a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0093 a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0273 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0285 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0308 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0355 a0001c0001t0002g0149 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0214 a0001c0001t0002g0342 a0001c0001t0002g0351 a0001c0001t0006g0003 a0001c0001t0007g0017 a0001c0001t0007g0023 a0001c0001t0007g0026 a0001c0001t0008g0011 a0001c0001t0008g0012 a0001c0001t0015g0054 a0001c0001t0017g0018 a0001c0001t0018g0020 a0002c0003t0002g0089	49	366	0.1339	-18	c.114 others(37): Show c.1144+4648_1144+4665delGACACACACACACACACA	HSDL2	ENSG00000119471.15	transcript	ENST00000398805.8	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
HSF1_chr8_144286604_144319720	144313738	GCCTCCCC others(11): Show GCCTCCCCGCCTCCCCGCC	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03098.hp2 HG03130.hp2 HG02109.hp2 HG03098.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0066 a0001c0001t0001g0012 a0001c0001t0001g0066	3	330	0.0091	-18	c.124 others(34): Show c.1249-105_1249-88delTCCCCGCCTCCCCGCCCC	HSF1	ENSG00000185122.11	transcript	ENST00000528838.6	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
HSF1_chr8_144286604_144319720	144313770	TCCCCGCC others(11): Show TCCCCGCCCCGCCTCCCCG	T T	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02602.hp2 HG03041.hp2 HG02486.hp2 HG02602.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0047 a0001c0001t0001g0106 a0001c0001t0006g0044 a0001c0001t0001g0047 a0001c0001t0001g0106 a0001c0001t0006g0044	3	330	0.0091	-18	c.124 others(33): Show c.1249-68_1249-51delCCGCCTCCCCGCCCCGCC	HSF1	ENSG00000185122.11	transcript	ENST00000528838.6	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
HSF5_chr17_58415167_58493408	58439333	ACATATGT others(11): Show ACATATGTTGTGGGGAAAC	A A	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG03098.hp1 HG01168.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0103 a0001c0001t0001g0106	2	332	0.0060	-18	c.172 others(39): Show c.1721-16921_1721-16904delGTTTCCCCACAACATATG	HSF5	ENSG00000176160.11	transcript	ENST00000323777.8	protein_coding	5/5			chr17	TogoVar
HSF5_chr17_58415167_58493408	58461213	CACAACAA others(11): Show CACAACAACAACAACAACA	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00735.hp1 HG00741.hp2 others(13): Show HG00323.hp1 HG00735.hp1 HG00741.hp2 HG01074.hp2 HG01081.hp2 HG01106.hp1 HG01255.hp1 HG01358.hp2 HG01361.hp1 HG01496.hp2 HG01515.hp1 HG02148.hp2 HG02280.hp2 HG03834.hp1 HG03942.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0016 others(12): Show a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0063 a0001c0001t0001g0065	16	332	0.0482	-18	c.154 others(37): Show c.1542+1551_1542+1568delTGTTGTTGTTGTTGTTGT	HSF5	ENSG00000176160.11	transcript	ENST00000323777.8	protein_coding	4/5			chr17	TogoVar
HSP90AA1_chr14_102075742_102092044	102076390	AATAAATA others(11): Show AATAAATAAATAAATAAAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG02717.hp1 HG02723.hp2 others(4): Show HG02615.hp1 HG02717.hp1 HG02723.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	7	398	0.0176	-18	c.53 others(29): Show c.5304_*5321delATTTATTTATTTATTTAT	HSP90AA1	ENSG00000080824.19	transcript	ENST00000216281.13	protein_coding		4351		chr14	TogoVar
HSP90AB1_chr6_44242101_44258883	44243449	CTTCTTAG others(11): Show CTTCTTAGCCCACAGGCCA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01361.hp2 HG01515.hp2 others(4): Show HG01109.hp1 HG01361.hp2 HG01515.hp2 HG01517.hp1 HG03704.hp2 NA20752.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0010t0001 a0001c0001t0001 a0001c0010t0001	a0001c0001t0001g0007 a0001c0001t0001g0060 a0001c0010t0001g0007 a0001c0001t0001g0007 a0001c0001t0001g0060 a0001c0010t0001g0007	7	432	0.0162	-18	c.-37 others(29): Show c.-3746_-3729delTTCTTAGCCCACAGGCCA	HSP90AB1	ENSG00000096384.20	transcript	ENST00000371646.10	protein_coding		3651		chr6	TogoVar
HSP90B1_chr12_103925410_103952926	103933452	CAACTCAT others(11): Show CAACTCATTGGCCATTTAT	C C	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0086 a0001c0002t0001g0086	1	458	0.0022	-18	c.412 others(33): Show c.412-490_412-473delTTTATAACTCATTGGCCA	HSP90B1	ENSG00000166598.16	transcript	ENST00000299767.10	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
HSPA12A_chr10_116666192_116747566	116698283	CTTTCATT others(11): Show CTTTCATTTCTCTTAGGGA	C C	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0086 a0001c0001t0005g0086	1	320	0.0031	-18	c.546 others(33): Show c.546+334_546+351delTCCCTAAGAGAAATGAAA	HSPA12A	ENSG00000165868.16	transcript	ENST00000369209.8	protein_coding	5/11			chr10	TogoVar
HSPA12A_chr10_116666192_116747566	116740658	GTGTGTGT others(11): Show GTGTGTGTGTGTGTGTGTC	G G	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp2 HG01109.hp1 others(8): Show HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01433.hp1 HG02647.hp1 HG03225.hp2 HG04199.hp2 NA18947.hp2 NA18969.hp1 NA18978.hp1 NA19003.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0020 a0001c0001t0024 a0002c0005t0002	a0001c0001t0001g0011 a0001c0001t0001g0108 a0001c0001t0001g0109 others(8): Show a0001c0001t0001g0011 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0002g0145 a0001c0001t0003g0283 a0001c0001t0005g0106 a0001c0001t0020g0020 a0001c0001t0024g0148 a0002c0005t0002g0107	11	320	0.0344	-18	c.40+ others(33): Show c.40+1754_40+1771delGACACACACACACACACA	HSPA12A	ENSG00000165868.16	transcript	ENST00000369209.8	protein_coding	1/11			chr10	TogoVar
HSPA4_chr5_133047013_133111449	133106101	AATTTTTT others(11): Show AATTTTTTTTTTTTTTTTT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03041.hp2 NA18972.hp2 NA19078.hp2 HG03041.hp2 NA18972.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0081 a0001c0001t0019g0090 a0001c0001t0019g0118 a0001c0001t0019g0081 a0001c0001t0019g0090 a0001c0001t0019g0118	3	364	0.0082	-18	c.16 others(29): Show c.1666_*1683delATTTTTTTTTTTTTTTTT	HSPA4	ENSG00000170606.16	transcript	ENST00000304858.7	protein_coding	19/19	1666		chr5	TogoVar
HSPA4_chr5_133047013_133111449	133106102	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00639.hp2 HG01167.hp2 HG00639.hp2 HG01167.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0031 a0001c0002t0031	a0001c0002t0031g0024 a0001c0002t0031g0040 a0001c0002t0031g0024 a0001c0002t0031g0040	2	364	0.0055	-18	c.16 others(29): Show c.1687_*1704delTTTTTTTTTTTTTTTTTT	HSPA4	ENSG00000170606.16	transcript	ENST00000304858.7	protein_coding	19/19	1687	INFO_REALIGN_3_PRIME	chr5	TogoVar
HSPB1_chr7_76297673_76309292	76305813	GAAGAAAA others(11): Show GAAGAAAAAAAAAAAAAAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	418	0.0024	-18	c.16 others(29): Show c.1641_*1658delAAGAAAAAAAAAAAAAAA	HSPB1	ENSG00000106211.10	transcript	ENST00000248553.7	protein_coding		1522		chr7	TogoVar
HSPE1_chr2_197495379_197508449	197505644	GTGTGTGT others(11): Show GTGTGTGTATATATATATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG01255.hp2 HG04115.hp2 HG00140.hp2 HG01255.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	406	0.0074	-18	c.23 others(29): Show c.2386_*2403delTGTGTGTATATATATATA	HSPE1	ENSG00000115541.11	transcript	ENST00000233893.10	protein_coding		2196		chr2	TogoVar
HSPE1_chr2_197495379_197508449	197505646	GTGTGTAT others(11): Show GTGTGTATATATATATATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01943.hp2 HG02040.hp2 NA18962.hp1 HG01943.hp2 HG02040.hp2 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0003 a0001c0001t0001g0013	3	406	0.0074	-18	c.23 others(29): Show c.2388_*2405delTGTGTATATATATATATA	HSPE1	ENSG00000115541.11	transcript	ENST00000233893.10	protein_coding		2198		chr2	TogoVar
HSPH1_chr13_31129973_31166904	31158242	CAAAAAGT others(11): Show CAAAAAGTTACTAAAAGTT	C C	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	396	0.0025	-18	c.165 others(33): Show c.165+546_165+563delAACTTTTAGTAACTTTTT	HSPH1	ENSG00000120694.20	transcript	ENST00000320027.10	protein_coding	2/17			chr13	TogoVar

Search by Variant

Search

Search Results