Joint Open Genome and Omics Platform (JoGo)

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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
HPN_chr19_35036721_35071573	35048028	A A	AGAAAGAA others(12): Show AGAAAGAAAGAAAAAGAAAG	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19066.hp2 NA19070.hp1 NA19005.hp2 NA19066.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0199 a0001c0001t0001g0018 a0001c0001t0001g0199	3	190	0.0158	19	c.17- others(34): Show c.17-1262_17-1261insGAAAGAAAGAAAAAGAAAG	HPN	ENSG00000105707.15	transcript	ENST00000672452.2	protein_coding	2/12			chr19	TogoVar
HPS5_chr11_18273676_18327140	18302831	G G	GGGGAGGG others(12): Show GGGGAGGGGGGGGGGGGGGA	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0023 a0001c0003t0001g0023	1	151	0.0066	19	c.897 others(36): Show c.897-1916_897-1915insTCCCCCCCCCCCCCCTCCC	HPS5	ENSG00000110756.18	transcript	ENST00000349215.8	protein_coding	8/22			chr11	TogoVar
HPS5_chr11_18273676_18327140	18302831	G G	GGGGGGGG others(12): Show GGGGGGGGGGGGGGGGGGGA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0064 a0001c0003t0004g0064	1	151	0.0066	19	c.897 others(36): Show c.897-1916_897-1915insTCCCCCCCCCCCCCCCCCC	HPS5	ENSG00000110756.18	transcript	ENST00000349215.8	protein_coding	8/22			chr11	TogoVar
HPSE2_chr10_98452077_99240852	98778297	A A	AGAGAGAG others(12): Show AGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03710.hp2 HG02886.hp2 HG03710.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0009 a0002c0002t0002 a0001c0001t0009 a0002c0002t0002	a0001c0001t0009g0057 a0002c0002t0002g0096 a0001c0001t0009g0057 a0002c0002t0002g0096	2	136	0.0147	19	c.611 others(38): Show c.611-34242_611-34241insCTCTCTCTCTCTCTCTCTC	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	3/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	99094540	A A	ATATATAT others(12): Show ATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0010	a0002c0002t0010g0021 a0002c0002t0010g0021	1	47	0.0213	19	c.610 others(38): Show c.610+49697_610+49698insAAAAATATATATATATATA	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	3/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	99132146	G G	GAAGAAGA others(12): Show GAAGAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02257.hp1 HG01255.hp2 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0018 a0001c0001t0001g0013 a0001c0001t0001g0018	2	116	0.0172	19	c.610 others(38): Show c.610+12091_610+12092insTCTTTCTTTCTTTCTTCTT	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	3/11			chr10	TogoVar
HRH3_chr20_62209960_62225278	62213389	G G	GGGGAAGG others(12): Show GGGGAAGGGAGAGCAGGGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00438.hp2 others(74): Show HG00099.hp1 HG00099.hp2 HG00438.hp2 HG00544.hp2 HG00621.hp2 HG00642.hp1 HG01106.hp2 HG01243.hp2 HG01258.hp1 HG01346.hp1 HG01496.hp1 HG01515.hp1 HG01928.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02132.hp2 HG02135.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp2 HG02280.hp2 HG02293.hp2 HG02451.hp1 HG02523.hp1 HG02572.hp2 HG02683.hp2 HG02717.hp1 HG02738.hp1 HG02809.hp2 HG02886.hp1 HG03017.hp1 HG03098.hp1 HG03486.hp1 HG03540.hp1 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03834.hp2 HG03927.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18612.hp1 NA18747.hp2 NA18943.hp2 NA18945.hp2 NA18947.hp2 NA18951.hp2 NA18952.hp1 NA18954.hp2 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18967.hp2 NA18969.hp1 NA18972.hp2 NA18973.hp2 NA18980.hp2 NA19000.hp1 NA19007.hp1 NA19012.hp1 NA19043.hp1 NA19054.hp1 NA19058.hp2 NA20129.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0008 a0001c0010	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0006t0001 a0001c0008t0001 a0001c0010t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0009 others(16): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0002t0001g0002 a0001c0002t0001g0005 a0001c0002t0001g0006 a0001c0002t0001g0015 a0001c0002t0001g0020 a0001c0002t0001g0024 a0001c0002t0001g0026 a0001c0002t0001g0034 a0001c0002t0001g0036 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0003t0001g0007 a0001c0003t0001g0010 a0001c0006t0001g0017 a0001c0008t0001g0039 a0001c0010t0001g0045	77	347	0.2219	19	c.26 others(30): Show c.2616_*2617insATCCCTGCTCTCCCTTCCC	HRH3	ENSG00000101180.17	transcript	ENST00000340177.10	protein_coding		1570		chr20	TogoVar
HRH3_chr20_62209960_62225278	62213585	G G	GGGGAAGG others(12): Show GGGGAAGGGAGAGCAGGGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp1 HG03041.hp2 HG03579.hp1 HG01261.hp1 HG03041.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0021 a0001c0002t0001g0006 a0001c0001t0001g0021 a0001c0002t0001g0006	3	363	0.0083	19	c.24 others(30): Show c.2420_*2421insATCCCTGCTCTCCCTTCCC	HRH3	ENSG00000101180.17	transcript	ENST00000340177.10	protein_coding		1374		chr20	TogoVar
HS2ST1_chr1_86909635_87114982	86990837	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01169.hp2 HG01358.hp2 others(2): Show HG01106.hp2 HG01169.hp2 HG01358.hp2 HG02896.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0077 a0001c0001t0001g0080 a0001c0001t0001g0086 others(2): Show a0001c0001t0001g0077 a0001c0001t0001g0080 a0001c0001t0001g0086 a0001c0001t0001g0101 a0001c0001t0010g0057	5	87	0.0575	19	c.124 others(38): Show c.124+75677_124+75678insATATATATATATATATATA	HS2ST1	ENSG00000153936.18	transcript	ENST00000370550.10	protein_coding	1/6			chr1	TogoVar
HS3ST2_chr16_22809162_22921338	22818919	T T	TTCCCTCC others(12): Show TTCCCTCCTTCCTTCCTCCC	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0156 a0001c0001t0007g0156	1	233	0.0043	19	c.485 others(36): Show c.485+3831_485+3832insTTCCTTCCTCCCTCCCTCC	HS3ST2	ENSG00000122254.7	transcript	ENST00000261374.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr16	TogoVar
HS3ST2_chr16_22809162_22921338	22855729	T T	TCTCTCTC others(12): Show TCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0082 a0001c0002t0001g0082	1	343	0.0029	19	c.485 others(38): Show c.485+40634_485+40635insCTCTCTCTCTCTCTCTCTC	HS3ST2	ENSG00000122254.7	transcript	ENST00000261374.4	protein_coding	1/1			chr16	TogoVar
HS3ST3A1_chr17_13489032_13606929	13512305	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0068 a0001c0001t0068	a0001c0001t0068g0184 a0001c0001t0068g0184	1	131	0.0076	19	c.600 others(38): Show c.600-15506_600-15488dupTTTTTTTTTTTTTTTTTTT	HS3ST3A1	ENSG00000153976.3	transcript	ENST00000284110.2	protein_coding	1/1			chr17	TogoVar
HS3ST3A1_chr17_13489032_13606929	13560289	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG03710.hp1 HG03710.hp2 others(4): Show HG01106.hp2 HG03710.hp1 HG03710.hp2 NA18986.hp1 NA19012.hp2 NA19086.hp1 NA20905.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0005 a0001c0001 a0001c0002 a0003c0005	a0001c0001t0002 a0001c0001t0011 a0001c0002t0001 others(1): Show a0001c0001t0002 a0001c0001t0011 a0001c0002t0001 a0003c0005t0005	a0001c0001t0002g0266 a0001c0001t0011g0071 a0001c0002t0001g0166 others(4): Show a0001c0001t0002g0266 a0001c0001t0011g0071 a0001c0002t0001g0166 a0001c0002t0001g0193 a0001c0002t0001g0261 a0001c0002t0001g0265 a0003c0005t0005g0075	7	66	0.1061	19	c.599 others(38): Show c.599+40223_599+40241dupTTTTTTTTTTTTTTTTTTT	HS3ST3A1	ENSG00000153976.3	transcript	ENST00000284110.2	protein_coding	1/1			chr17	TogoVar
HS3ST3A1_chr17_13489032_13606929	13585186	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00609.hp1 HG02165.hp1 others(4): Show HG00544.hp2 HG00609.hp1 HG02165.hp1 HG03704.hp2 HG03834.hp1 NA18747.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001	a0001c0001t0002g0225 a0001c0001t0002g0268 a0001c0001t0003g0254 others(4): Show a0001c0001t0002g0225 a0001c0001t0002g0268 a0001c0001t0003g0254 a0001c0002t0001g0194 a0001c0002t0001g0226 a0001c0002t0001g0227 a0001c0002t0001g0228	7	66	0.1061	19	c.599 others(38): Show c.599+15326_599+15344dupAAAAAAAAAAAAAAAAAAA	HS3ST3A1	ENSG00000153976.3	transcript	ENST00000284110.2	protein_coding	1/1			chr17	TogoVar
HS3ST4_chr16_25686959_26142685	25903369	A A	ATATATGT others(12): Show ATATATGTATATGTATATAT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03041.hp1 HG03471.hp2 HG02717.hp2 HG03041.hp1 HG03471.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0004 a0001c0001t0008 a0003c0003t0004 a0001c0001t0004 a0001c0001t0008 a0003c0003t0004	a0001c0001t0004g0096 a0001c0001t0008g0161 a0003c0003t0004g0137 a0001c0001t0004g0096 a0001c0001t0008g0161 a0003c0003t0004g0137	3	164	0.0183	19	c.734 others(40): Show c.734+210223_734+210224insGTATATGTATATATTATAT	HS3ST4	ENSG00000182601.7	transcript	ENST00000331351.6	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr16	TogoVar
HS3ST5_chr6_114050596_114348023	114341222	G G	GAGAGAGA others(12): Show GAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0043 a0001c0001t0029g0043	1	26	0.0385	19	c.-33 others(36): Show c.-339+972_-339+973insTCTCTCTCTCTCTCTCTCT	HS3ST5	ENSG00000249853.9	transcript	ENST00000312719.10	protein_coding	1/4			chr6	TogoVar
HS6ST2_chrX_132621015_132963629	132709812	A A	ACACACAC others(12): Show ACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	87	0.0115	19	c.948 others(36): Show c.948-1319_948-1318insGTGTGTGTGTGTGTGTGTG	HS6ST2	ENSG00000171004.19	transcript	ENST00000370833.7	protein_coding	2/4			chrX	TogoVar
HS6ST3_chr13_96085107_96844562	96304711	C C	CTTTCTTT others(12): Show CTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0106 a0001c0001t0035g0106	1	90	0.0111	19	c.707 others(40): Show c.707+213145_707+213146insCTTTCTTTCTTTCTTTTTT	HS6ST3	ENSG00000185352.10	transcript	ENST00000376705.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr13	TogoVar
HS6ST3_chr13_96085107_96844562	96351335	T T	TTTTTTTT others(12): Show TTTTTTTTTTTTTTTTAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0014 a0001c0001t0019g0014	1	5	0.2000	19	c.707 others(40): Show c.707+259766_707+259767insTTTTTTTTTTTTTTTAAAA	HS6ST3	ENSG00000185352.10	transcript	ENST00000376705.4	protein_coding	1/1			chr13	TogoVar
HS6ST3_chr13_96085107_96844562	96459100	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	24	0.0417	19	c.707 others(40): Show c.707+367538_707+367556dupAAAAAAAAAAAAAAAAAAA	HS6ST3	ENSG00000185352.10	transcript	ENST00000376705.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr13	TogoVar
HS6ST3_chr13_96085107_96844562	96464138	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01261.hp1 HG01496.hp2 others(3): Show HG00621.hp1 HG01261.hp1 HG01496.hp2 HG03834.hp2 HG04204.hp2 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0011 a0001c0001t0017 others(2): Show a0001c0001t0001 a0001c0001t0011 a0001c0001t0017 a0001c0001t0033 a0002c0002t0027	a0001c0001t0001g0056 a0001c0001t0001g0068 a0001c0001t0011g0058 others(3): Show a0001c0001t0001g0056 a0001c0001t0001g0068 a0001c0001t0011g0058 a0001c0001t0017g0066 a0001c0001t0033g0044 a0002c0002t0027g0092	6	20	0.3000	19	c.708 others(40): Show c.708-368347_708-368329dupAAAAAAAAAAAAAAAAAAA	HS6ST3	ENSG00000185352.10	transcript	ENST00000376705.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr13	TogoVar
HS6ST3_chr13_96085107_96844562	96831975	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0014 a0001c0001t0019g0014	1	116	0.0086	19	c.708 others(34): Show c.708-510_708-509insAAAAAAAAAAAAACAAAAA	HS6ST3	ENSG00000185352.10	transcript	ENST00000376705.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr13	TogoVar
HSBP1_chr16_83802978_83824737	83820760	T T	TCTCTCTC others(12): Show TCTCTCTCTCTCTCTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0003 a0001c0001t0006g0003	1	286	0.0035	19	c.93 others(30): Show c.9342_*9343insCTCTCTCTCTCTCTCTCTC	HSBP1	ENSG00000230989.8	transcript	ENST00000433866.7	protein_coding		1024		chr16	TogoVar
HSCB_chr22_28737039_28762510	28750945	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00673.hp1 HG01175.hp2 others(13): Show HG00558.hp1 HG00673.hp1 HG01175.hp2 HG02027.hp1 HG02965.hp2 HG03139.hp2 NA18943.hp2 NA18950.hp1 NA18960.hp2 NA18967.hp1 NA18983.hp1 NA18993.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp2 NA19068.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0018 a0001c0001t0001g0048 a0001c0001t0001g0049 others(8): Show a0001c0001t0001g0018 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0176 a0001c0001t0001g0205 a0001c0001t0001g0223 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0247 a0001c0001t0001g0250 a0002c0003t0001g0056	16	127	0.1260	19	c.569 others(34): Show c.569-290_569-272dupTTTTTTTTTTTTTTTTTTT	HSCB	ENSG00000100209.11	transcript	ENST00000216027.8	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr22	TogoVar
HSD11B1_chr1_209699846_209739929	209709937	A A	ACACACAC others(12): Show ACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	149	0.0067	19	c.517 others(36): Show c.517+2809_517+2810insCACACACACACACACACAC	HSD11B1	ENSG00000117594.10	transcript	ENST00000367027.5	protein_coding	4/5			chr1	TogoVar
HSD17B12_chr11_43675738_43861615	43682544	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0201 a0002c0002t0002g0201	1	15	0.0667	19	c.160 others(36): Show c.160+1561_160+1579dupAAAAAAAAAAAAAAAAAAA	HSD17B12	ENSG00000149084.13	transcript	ENST00000278353.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
HSD17B14_chr19_48808018_48841491	48811494	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 HG03209.hp2 NA18944.hp1 others(2): Show HG01433.hp1 HG03209.hp2 NA18944.hp1 NA19064.hp1 NA19081.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0049 a0002c0002t0001g0302 a0002c0002t0001g0304 others(2): Show a0001c0001t0001g0049 a0002c0002t0001g0302 a0002c0002t0001g0304 a0002c0002t0001g0335 a0002c0002t0001g0369	5	107	0.0467	19	c.16 others(30): Show c.1680_*1681insTTTTTTTTTTTTTTTTTTT	HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding		1523		chr19	TogoVar
HSD17B14_chr19_48808018_48841491	48826528	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18948.hp1 NA18962.hp2 others(9): Show NA18940.hp1 NA18948.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp2 NA18967.hp1 NA18983.hp2 NA19000.hp1 NA19009.hp2 NA19010.hp1 NA19056.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0163 others(5): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0163 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0270	12	73	0.1644	19	c.369 others(36): Show c.369+5139_369+5140insATATATATTTTTTTTTTTT	HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	5/8			chr19	TogoVar
HSD17B3_chr9_96230306_96307176	96261209	T T	TCTGCTGC others(12): Show TCTGCTGCCAAGGGCTAGGA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00323.hp1 others(293): Show HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01934.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp2 HG02738.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp2 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18975.hp1 NA18975.hp2 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18988.hp1 NA18989.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19065.hp2 NA19066.hp1 NA19067.hp2 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19079.hp1 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008	a0001c0001 a0001c0009 a0001c0010 others(7): Show a0001c0001 a0001c0009 a0001c0010 a0002c0002 a0003c0003 a0004c0004 a0005c0008 a0006c0007 a0007c0006 a0008c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0009t0003 a0001c0010t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0003c0003t0004 a0004c0004t0002 a0005c0008t0001 a0006c0007t0001 a0007c0006t0004 a0008c0011t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(291): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0046 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0080 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0002g0002 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0278 a0001c0001t0002g0280 a0001c0001t0002g0282 a0001c0001t0002g0284 a0001c0001t0002g0286 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0002g0320 a0001c0001t0002g0321 a0001c0001t0002g0327 a0001c0001t0002g0328 a0001c0001t0002g0329 a0001c0001t0002g0330 a0001c0001t0002g0332 a0001c0001t0002g0336 a0001c0001t0002g0338 a0001c0001t0002g0339 a0001c0001t0002g0340 a0001c0001t0002g0341 a0001c0001t0002g0345 a0001c0001t0002g0346 a0001c0001t0002g0347 a0001c0001t0002g0349 a0001c0001t0002g0357 a0001c0001t0002g0360 a0001c0001t0002g0361 a0001c0001t0002g0362 a0001c0001t0002g0363 a0001c0001t0002g0365 a0001c0001t0002g0366 a0001c0001t0002g0371 a0001c0001t0003g0226 a0001c0001t0003g0227 a0001c0001t0003g0228 a0001c0001t0003g0229 a0001c0001t0003g0231 a0001c0001t0003g0232 a0001c0001t0003g0237 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0003g0241 a0001c0001t0003g0243 a0001c0001t0003g0244 a0001c0001t0003g0245 a0001c0001t0003g0247 a0001c0001t0003g0248 a0001c0001t0003g0249 a0001c0001t0003g0251 a0001c0001t0003g0252 a0001c0001t0003g0253 a0001c0001t0003g0255 a0001c0009t0003g0238 a0001c0010t0001g0012 a0002c0002t0001g0001 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0035 a0002c0002t0001g0059 a0002c0002t0001g0069 a0002c0002t0001g0079 a0002c0002t0001g0084 a0002c0002t0001g0096 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0104 a0002c0002t0001g0107 a0002c0002t0001g0122 a0002c0002t0001g0127 a0002c0002t0001g0144 a0002c0002t0001g0172 a0002c0002t0001g0185 a0002c0002t0001g0224 a0002c0002t0002g0277 a0002c0002t0002g0279 a0002c0002t0002g0281 a0002c0002t0002g0285 a0002c0002t0002g0288 a0002c0002t0002g0299 a0002c0002t0002g0300 a0002c0002t0002g0307 a0002c0002t0002g0312 a0002c0002t0002g0313 a0002c0002t0002g0316 a0002c0002t0002g0322 a0002c0002t0002g0323 a0002c0002t0002g0324 a0002c0002t0002g0325 a0002c0002t0002g0326 a0002c0002t0002g0333 a0002c0002t0002g0335 a0002c0002t0002g0348 a0002c0002t0002g0351 a0002c0002t0002g0352 a0002c0002t0002g0355 a0002c0002t0002g0364 a0002c0002t0002g0367 a0002c0002t0002g0368 a0002c0002t0002g0369 a0002c0002t0002g0370 a0002c0002t0003g0246 a0002c0002t0003g0250 a0003c0003t0004g0257 a0003c0003t0004g0258 a0003c0003t0004g0259 a0003c0003t0004g0260 a0003c0003t0004g0261 a0003c0003t0004g0262 a0003c0003t0004g0263 a0003c0003t0004g0264 a0003c0003t0004g0265 a0003c0003t0004g0266 a0003c0003t0004g0267 a0003c0003t0004g0268 a0003c0003t0004g0269 a0003c0003t0004g0270 a0003c0003t0004g0271 a0004c0004t0002g0372 a0005c0008t0001g0162 a0006c0007t0001g0212 a0007c0006t0004g0256 a0008c0011t0001g0178	296	372	0.7957	19	c.202 others(36): Show c.202-6267_202-6266insTCCTAGCCCTTGGCAGCAG	HSD17B3	ENSG00000130948.10	transcript	ENST00000375263.8	protein_coding	2/10			chr9	TogoVar
HSD17B3_chr9_96230306_96307176	96305400	T T	TGAGAAGA others(12): Show TGAGAAGAATCAGACAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01952.hp1 HG02280.hp2 HG01952.hp1 HG02280.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0008 a0001c0001 a0005c0008	a0001c0001t0001 a0005c0008t0001 a0001c0001t0001 a0005c0008t0001	a0001c0001t0001g0180 a0005c0008t0001g0162 a0001c0001t0001g0180 a0005c0008t0001g0162	2	372	0.0054	19	c.-32 others(30): Show c.-3297_-3296insTCTCTGTCTGATTCTTCTC	HSD17B3	ENSG00000130948.10	transcript	ENST00000375263.8	protein_coding		3225		chr9	TogoVar
HSD3B2_chr1_119410150_119428034	119423922	C C	CTTTTTCT others(12): Show CTTTTTCTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG01891.hp1 HG02257.hp1 others(6): Show HG01884.hp2 HG01891.hp1 HG02257.hp1 HG02559.hp2 HG02717.hp2 HG02922.hp1 HG03195.hp2 NA18522.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0001t0004 a0001c0005t0003 a0001c0001t0002 a0001c0001t0004 a0001c0005t0003	a0001c0001t0002g0016 a0001c0001t0004g0015 a0001c0005t0003g0041 a0001c0001t0002g0016 a0001c0001t0004g0015 a0001c0005t0003g0041	9	286	0.0315	19	c.13 others(30): Show c.1302_*1303insTTTTTCTTTTTTTTTTTTT	HSD3B2	ENSG00000203859.10	transcript	ENST00000369416.4	protein_coding		889		chr1	TogoVar
HSDL1_chr16_84117141_84150177	84130695	T T	TTTTCAAA others(12): Show TTTTCAAACTACTATCTGGC	intron_variant intron_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0031 a0008c0010t0031	a0008c0010t0031g0079 a0008c0010t0031g0079	1	446	0.0022	19	c.221 others(34): Show c.221-283_221-265dupGCCAGATAGTAGTTTGAAA	HSDL1	ENSG00000103160.12	transcript	ENST00000219439.9	protein_coding	3/5			chr16	TogoVar
HSDL1_chr16_84117141_84150177	84141090	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03139.hp1 HG03471.hp1 HG02145.hp1 HG03139.hp1 HG03471.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0014 a0002c0002t0014	a0002c0002t0014g0063 a0002c0002t0014g0064 a0002c0002t0014g0065 a0002c0002t0014g0063 a0002c0002t0014g0064 a0002c0002t0014g0065	3	436	0.0069	19	c.-69 others(36): Show c.-69+3989_-69+3990insTTTTTTTTTTTTTTTTTTT	HSDL1	ENSG00000103160.12	transcript	ENST00000219439.9	protein_coding	1/5			chr16	TogoVar
HSDL1_chr16_84117141_84150177	84141099	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0194 a0002c0002t0003g0194	1	443	0.0023	19	c.-69 others(36): Show c.-69+3980_-69+3981insGTTTTTTTTTTTTTTTTTT	HSDL1	ENSG00000103160.12	transcript	ENST00000219439.9	protein_coding	1/5			chr16	TogoVar
HSDL1_chr16_84117141_84150177	84148596	C C	CTCTCTCT others(12): Show CTCTCTCTCTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG02055.hp2 HG02486.hp2 others(2): Show HG01109.hp2 HG02055.hp2 HG02486.hp2 HG03041.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0020 a0001c0001t0006g0160 a0001c0001t0006g0161 others(1): Show a0001c0001t0006g0020 a0001c0001t0006g0160 a0001c0001t0006g0161 a0001c0001t0006g0163	5	83	0.0602	19	c.-35 others(30): Show c.-3586_-3585insAAAAAAAAAAAGAGAGAGA	HSDL1	ENSG00000103160.12	transcript	ENST00000219439.9	protein_coding		3420		chr16	TogoVar
HSDL1_chr16_84117141_84150177	84150084	G G	GAAGAAAA others(12): Show GAAGAAAAAGGAAAGGAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0043 a0001c0001t0010g0043	1	446	0.0022	19	c.-50 others(30): Show c.-5092_-5074dupTTCTCCTTTCCTTTTTCTT	HSDL1	ENSG00000103160.12	transcript	ENST00000219439.9	protein_coding		4908		chr16	TogoVar
HSF1_chr8_144286604_144319720	144313736	G G	GCGCCGCC others(12): Show GCGCCGCCTCCCCGCCTCCC	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0261 a0001c0001t0001g0261	1	213	0.0047	19	c.124 others(36): Show c.1249-106_1249-105insGCCTCCCCGCCTCCCCGCC	HSF1	ENSG00000185122.11	transcript	ENST00000528838.6	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
HSF1_chr8_144286604_144319720	144313775	G G	GCCTCCCC others(12): Show GCCTCCCCGCCCCCCCGCCT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0173 a0002c0002t0001g0173	1	205	0.0049	19	c.124 others(34): Show c.1249-69_1249-68insTCCCCGCCCCCCCGCCTCC	HSF1	ENSG00000185122.11	transcript	ENST00000528838.6	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
HSPA12A_chr10_116666192_116747566	116696002	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00741.hp2 HG01106.hp2 others(20): Show HG00423.hp2 HG00741.hp2 HG01106.hp2 HG01109.hp2 HG01175.hp1 HG01884.hp2 HG01934.hp1 HG01943.hp1 HG01993.hp1 HG02004.hp1 HG02273.hp1 HG02683.hp1 HG02818.hp2 HG02922.hp1 HG03704.hp1 HG03942.hp2 HG04184.hp2 NA18939.hp2 NA18955.hp1 NA19005.hp2 NA19030.hp1 NA19058.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0013 a0001c0001 a0001c0002 a0001c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0002t0001 a0001c0013t0003	a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0087 others(20): Show a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0087 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0145 a0001c0001t0001g0161 a0001c0001t0001g0259 a0001c0001t0002g0010 a0001c0001t0002g0178 a0001c0001t0002g0224 a0001c0001t0002g0234 a0001c0001t0003g0285 a0001c0001t0003g0287 a0001c0001t0003g0290 a0001c0001t0003g0295 a0001c0001t0003g0306 a0001c0001t0005g0028 a0001c0001t0005g0031 a0001c0001t0006g0141 a0001c0001t0009g0062 a0001c0002t0001g0049 a0001c0013t0003g0280	23	136	0.1691	19	c.546 others(36): Show c.546+2614_546+2632dupTTTTTTTTTTTTTTTTTTT	HSPA12A	ENSG00000165868.16	transcript	ENST00000369209.8	protein_coding	5/11			chr10	TogoVar
HSPA12A_chr10_116666192_116747566	116713011	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0051 a0001c0002t0001g0051	1	312	0.0032	19	c.41- others(34): Show c.41-5727_41-5726insTATATATATATATATATAT	HSPA12A	ENSG00000165868.16	transcript	ENST00000369209.8	protein_coding	1/11			chr10	TogoVar
HSPA1L_chr6_31804619_31820283	31809595	A A	ACACACAC others(12): Show ACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	423	0.0024	19	c.45 others(28): Show c.451_*452insGTGTGTGTGTGTGTGTGTG	HSPA1L	ENSG00000204390.10	transcript	ENST00000375654.5	protein_coding		23		chr6	TogoVar
HSPA4L_chr4_127777322_127845733	127782335	C C	CCAGGCTG others(12): Show CCAGGCTGCGGGACGCGGTG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0054	a0001c0001t0054g0190 a0001c0001t0054g0190	1	337	0.0030	19	c.-20 others(28): Show c.-205_-187dupGACGCGGTGCAGGCTGCGG	HSPA4L	ENSG00000164070.12	transcript	ENST00000296464.9	protein_coding	1/19	186	INFO_REALIGN_3_PRIME	chr4	TogoVar
HSPA4L_chr4_127777322_127845733	127841971	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0018 a0001c0001t0018g0018	1	226	0.0044	19	c.90 others(30): Show c.9097_*9098insAAAAAAAAAAAAAAAAAAA	HSPA4L	ENSG00000164070.12	transcript	ENST00000296464.9	protein_coding		1239		chr4	TogoVar
HSPA4_chr5_133047013_133111449	133085489	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0011 a0001c0004t0011	a0001c0004t0011g0011 a0001c0004t0011g0011	1	207	0.0048	19	c.909 others(36): Show c.909-1280_909-1279insAAAAAAAAAAAAAAAAAAA	HSPA4	ENSG00000170606.16	transcript	ENST00000304858.7	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr5	TogoVar
HSPB8_chr12_119173931_119199746	119197022	A A	AGTCTTCT others(12): Show AGTCTTCTCCCACAGCGTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	416	0.0024	19	c.31 others(30): Show c.3164_*3165insGTCTTCTCCCACAGCGTCT	HSPB8	ENSG00000152137.8	transcript	ENST00000281938.7	protein_coding		2277		chr12	TogoVar
HSPH1_chr13_31129973_31166904	31166224	G G	GGTGTGTG others(12): Show GGTGTGTGTGTTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	189	0.0053	19	c.-46 others(30): Show c.-4643_-4642insACACACACAACACACACAC	HSPH1	ENSG00000120694.20	transcript	ENST00000320027.10	protein_coding		4321		chr13	TogoVar
HTR1F_chr3_87787706_87998839	87979058	G G	GGGGGGGA others(12): Show GGGGGGGAGGGAGGGAGGGA	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0064 a0001c0001t0002g0064	1	248	0.0040	19	c.-42 others(38): Show c.-42-11644_-42-11643insAGGGAGGGAGGGAGGGGGG	HTR1F	ENSG00000179097.7	transcript	ENST00000319595.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
HTR1F_chr3_87787706_87998839	87979075	G G	GGGAGGGG others(12): Show GGGAGGGGGGGAGGGAGGGA	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0088 a0001c0001t0002g0088	1	188	0.0053	19	c.-42 others(38): Show c.-42-11631_-42-11630insAGGGGGGGAGGGAGGGAGG	HTR1F	ENSG00000179097.7	transcript	ENST00000319595.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
HTR2C_chrX_114579086_114915061	114734564	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02738.hp1 HG03041.hp1 others(4): Show HG02630.hp2 HG02738.hp1 HG03041.hp1 NA18967.hp1 NA19081.hp2 NA20752.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0002 a0002c0002t0009 a0001c0001t0002 a0002c0002t0002 a0002c0002t0009	a0001c0001t0002g0004 a0001c0001t0002g0006 a0002c0002t0002g0043 others(4): Show a0001c0001t0002g0004 a0001c0001t0002g0006 a0002c0002t0002g0043 a0002c0002t0002g0044 a0002c0002t0002g0047 a0002c0002t0002g0052 a0002c0002t0009g0038	7	8	0.8750	19	c.349 others(36): Show c.349+2967_349+2985dupAAAAAAAAAAAAAAAAAAA	HTR2C	ENSG00000147246.10	transcript	ENST00000276198.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chrX	TogoVar
HTR2C_chrX_114579086_114915061	114741524	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02895.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0167 a0001c0001t0001g0169	2	30	0.0667	19	c.349 others(36): Show c.349+9924_349+9942dupAAAAAAAAAAAAAAAAAAA	HTR2C	ENSG00000147246.10	transcript	ENST00000276198.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chrX	TogoVar

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