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
HAX1_chr1_154267629_154280875	154277309	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp1 NA19240.hp2 HG04228.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0005 a0001c0002t0001g0020 a0001c0001t0001g0005 a0001c0002t0001g0020	2	392	0.0051	24	c.16 others(35): Show c.1608_*1609insATATATATATATATATATATATAT	HAX1	ENSG00000143575.16	transcript	ENST00000328703.12	protein_coding		1435		chr1	TogoVar
HBA1_chr16_171680_182522	181982	C C	CCACACAC others(17): Show CCACACACACACACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00639.hp2 HG00642.hp2 others(29): Show HG00140.hp2 HG00639.hp2 HG00642.hp2 HG01928.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02132.hp1 HG02145.hp2 HG02165.hp1 HG02293.hp1 HG02698.hp1 HG02818.hp2 HG02896.hp2 HG03130.hp2 HG03942.hp1 NA18941.hp2 NA18943.hp2 NA18947.hp1 NA18954.hp1 NA18954.hp2 NA18969.hp2 NA18973.hp2 NA18978.hp1 NA19067.hp1 NA19068.hp2 NA19079.hp1 NA19084.hp2 NA19240.hp1 NA20129.hp1 NA20805.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0001 a0001c0001t0001g0002	32	398	0.0804	24	c.45 others(35): Show c.4571_*4572insCACACACACACACACACACACACA	HBA1	ENSG00000206172.8	transcript	ENST00000320868.9	protein_coding		4461		chr16	TogoVar
HBG1_chr11_5243269_5254857	5253698	G G	GCGCACAC others(17): Show GCGCACACACACACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG01952.hp1 HG01981.hp1 others(4): Show HG01069.hp1 HG01952.hp1 HG01981.hp1 HG02293.hp2 HG02300.hp1 NA18977.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	7	433	0.0162	24	c.-38 others(35): Show c.-3895_-3894insTGTGTGTGTGTGTGTGTGTGTGCG	HBG1	ENSG00000213934.9	transcript	ENST00000330597.5	protein_coding		3842		chr11	TogoVar
HBG1_chr11_5243269_5254857	5253698	G G	GCGCGCAC others(17): Show GCGCGCACACACACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	433	0.0023	24	c.-38 others(35): Show c.-3895_-3894insTGTGTGTGTGTGTGTGTGTGCGCG	HBG1	ENSG00000213934.9	transcript	ENST00000330597.5	protein_coding		3842		chr11	TogoVar
HBG2_chr11_5248188_5259781	5253698	G G	GCGCACAC others(17): Show GCGCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01981.hp1 HG02273.hp1 others(4): Show HG01952.hp1 HG01981.hp1 HG02273.hp1 HG02293.hp2 HG02300.hp1 NA18977.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	7	430	0.0163	24	c.316 others(39): Show c.316-294_316-293insTGTGTGTGTGTGTGTGTGTGTGCG	HBG2	ENSG00000196565.15	transcript	ENST00000336906.6	protein_coding	2/2			chr11	TogoVar
HBG2_chr11_5248188_5259781	5253698	G G	GCGCGCAC others(17): Show GCGCGCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	430	0.0023	24	c.316 others(39): Show c.316-294_316-293insTGTGTGTGTGTGTGTGTGTGCGCG	HBG2	ENSG00000196565.15	transcript	ENST00000336906.6	protein_coding	2/2			chr11	TogoVar
HBQ1_chr16_175459_186179	181982	C C	CCACACAC others(17): Show CCACACACACACACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG01070.hp2 HG01928.hp1 others(29): Show HG00140.hp1 HG01070.hp2 HG01928.hp1 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02132.hp1 HG02145.hp2 HG02165.hp2 HG02273.hp2 HG02293.hp1 HG02572.hp2 HG02698.hp1 HG02818.hp2 HG02896.hp2 HG03130.hp1 HG03490.hp2 HG03831.hp2 HG03942.hp1 NA18943.hp2 NA18947.hp1 NA18954.hp1 NA18954.hp2 NA18973.hp2 NA18978.hp1 NA19067.hp2 NA19068.hp1 NA19079.hp1 NA19240.hp2 NA20129.hp1 NA20805.hp1 NA20905.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0004 a0001c0001 a0001c0002 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0003 a0003c0004t0001	a0001c0001t0001g0001 a0001c0001t0002g0001 a0001c0002t0001g0001 others(3): Show a0001c0001t0001g0001 a0001c0001t0002g0001 a0001c0002t0001g0001 a0001c0002t0001g0004 a0001c0002t0003g0001 a0003c0004t0001g0003	32	384	0.0833	24	c.87 others(33): Show c.874_*875insCACACACACACACACACACACACA	HBQ1	ENSG00000086506.3	transcript	ENST00000199708.3	protein_coding		804		chr16	TogoVar
HCAR2_chr12_122696293_122708357	122698104	C C	CTTTCTTT others(17): Show CTTTCTTTCTTTCTTTCTTTCTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0000 a0002c0005t0001g0000	1	428	0.0023	24	c.40 others(35): Show c.4087_*4088insAAAAGAAAGAAAGAAAGAAAGAAA	HCAR2	ENSG00000182782.8	transcript	ENST00000328880.6	protein_coding		3188		chr12	TogoVar
HCAR2_chr12_122696293_122708357	122704416	A A	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01255.hp2 others(3): Show HG01070.hp1 HG01071.hp1 HG01255.hp2 HG01258.hp1 HG01361.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	6	428	0.0140	24	c.-11 others(35): Show c.-1134_-1133insAAAAAAAAAAAAAAAAAAAAAAAA	HCAR2	ENSG00000182782.8	transcript	ENST00000328880.6	protein_coding		1060		chr12	TogoVar
HCFC2_chr12_104059531_104111524	104087470	T T	TATATATA others(17): Show TATATATATATGTATATATATATAC	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0137 a0001c0001t0007g0137	1	382	0.0026	24	c.123 others(41): Show c.1231+466_1231+467insGTATATATATATACATATATATAT	HCFC2	ENSG00000111727.12	transcript	ENST00000229330.9	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
HCK_chr20_32047242_32106856	32094751	A A	AAGAAAGA others(17): Show AAGAAAGAAAGAGAGAAAGAAAGAG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	290	0.0035	24	c.124 others(41): Show c.1246+746_1246+747insGAGAAAGAAAGAGAGAAAGAAAGA	HCK	ENSG00000101336.18	transcript	ENST00000375852.5	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
HCK_chr20_32047242_32106856	32094795	A A	AGGAAAGA others(17): Show AGGAAAGAAAGAAAGAGAGAGAAAG	intron_variant intron_variant	MODIFIER	HG03041.hp2 NA19043.hp2 HG03041.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0239 a0001c0001t0001g0227 a0001c0001t0001g0239	2	290	0.0069	24	c.124 others(41): Show c.1246+779_1246+780insGGAAAGAAAGAAAGAGAGAGAAAG	HCK	ENSG00000101336.18	transcript	ENST00000375852.5	protein_coding	11/12			chr20	TogoVar
HCK_chr20_32047242_32106856	32102584	A A	AATACATA others(17): Show AATACATACATACATACATACATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG01123.hp2 HG02280.hp1 others(5): Show HG01099.hp2 HG01123.hp2 HG02280.hp1 HG03688.hp1 NA18970.hp1 NA18982.hp1 NA19088.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0004 a0001c0001t0001g0041 a0001c0001t0001g0118 others(5): Show a0001c0001t0001g0004 a0001c0001t0001g0041 a0001c0001t0001g0118 a0001c0001t0001g0123 a0001c0001t0001g0130 a0001c0001t0001g0152 a0001c0002t0001g0132 a0001c0002t0001g0259	8	290	0.0276	24	c.10 others(35): Show c.1065_*1066insATACATACATACATACATACATAC	HCK	ENSG00000101336.18	transcript	ENST00000375852.5	protein_coding		729		chr20	TogoVar
HCLS1_chr3_121626399_121665903	121635237	T T	TTCTCTCT others(17): Show TTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0231 a0002c0001t0001g0231	1	390	0.0026	24	c.691 others(39): Show c.691+474_691+497dupGAGAGAGAGAGAGAGAGAGAGAGA	HCLS1	ENSG00000180353.11	transcript	ENST00000314583.8	protein_coding	9/13			chr3	TogoVar
HCN1_chr5_45249948_45701380	45402813	C C	CTCCTTCC others(17): Show CTCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0218 a0001c0001t0039g0218	1	226	0.0044	24	c.101 others(43): Show c.1012-6127_1012-6104dupAGGAAGGAAGGAAGGAAGGAAGGA	HCN1	ENSG00000164588.8	transcript	ENST00000303230.6	protein_coding	3/7			chr5	TogoVar
HCN2_chr19_584881_622159	595137	G G	GGCTGCAG others(17): Show GGCTGCAGTGAGCTATGATCGTGCC	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0004 a0001c0023t0004	a0001c0023t0004g0247 a0001c0023t0004g0247	1	408	0.0025	24	c.632 others(41): Show c.632+4561_632+4584dupGCTGCAGTGAGCTATGATCGTGCC	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
HCN2_chr19_584881_622159	612393	G G	GGTGGGGG others(17): Show GGTGGGGGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03516.hp1 NA18522.hp1 HG03516.hp1 NA18522.hp1	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0008 a0001c0020t0008	a0001c0020t0008g0010 a0001c0020t0008g0013 a0001c0020t0008g0010 a0001c0020t0008g0013	2	408	0.0049	24	c.158 others(41): Show c.1585-852_1585-851insGGGGTGTGTGTGTGTGTGTGTGTG	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
HCN4_chr15_73314859_73373958	73316252	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG01069.hp1 HG01071.hp2 others(31): Show HG00280.hp1 HG01069.hp1 HG01071.hp2 HG01081.hp2 HG01257.hp1 HG01346.hp2 HG01358.hp1 HG01515.hp2 HG01517.hp1 HG01934.hp2 HG01981.hp1 HG02004.hp1 HG02004.hp2 HG02129.hp2 HG02280.hp2 HG02922.hp2 HG03834.hp1 HG03927.hp1 NA18747.hp2 NA18948.hp2 NA18950.hp1 NA18955.hp1 NA18957.hp2 NA18962.hp1 NA18969.hp1 NA18979.hp1 NA18990.hp2 NA19043.hp1 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19084.hp2 NA20129.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0008 a0001c0001 a0001c0003 a0002c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0012 a0001c0001t0027 a0001c0003t0001 a0002c0008t0002	a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0002g0022 others(29): Show a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0002g0022 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0029 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0039 a0001c0001t0002g0079 a0001c0001t0002g0134 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0168 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0177 a0001c0001t0002g0191 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0219 a0001c0001t0002g0225 a0001c0001t0002g0256 a0001c0001t0002g0279 a0001c0001t0002g0281 a0001c0001t0011g0004 a0001c0001t0012g0041 a0001c0001t0012g0042 a0001c0001t0027g0278 a0001c0003t0001g0009 a0002c0008t0002g0046 a0002c0008t0002g0047	34	344	0.0988	24	c.62 others(35): Show c.6228_*6229insATATATATATATATATATATATAT	HCN4	ENSG00000138622.4	transcript	ENST00000261917.4	protein_coding		3606		chr15	TogoVar
HCRTR2_chr6_55169515_55287617	55241861	A A	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02976.hp2 NA19043.hp1 HG02976.hp2 NA19043.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0184 a0002c0002t0001g0263 a0002c0002t0001g0184 a0002c0002t0001g0263	2	368	0.0054	24	c.224 others(41): Show c.224-6755_224-6754insTTTTTTTTTTTTTTTTTTTTTTTT	HCRTR2	ENSG00000137252.10	transcript	ENST00000370862.4	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
HCRTR2_chr6_55169515_55287617	55245469	T T	TTATATAT others(17): Show TTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03688.hp1 NA18944.hp1 others(3): Show HG02717.hp2 HG03688.hp1 NA18944.hp1 NA18955.hp1 NA18984.hp2 NA19091.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0003t0002 a0002c0002t0001 a0001c0001t0001 a0001c0003t0002 a0002c0002t0001	a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0071 others(3): Show a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0071 a0001c0001t0001g0138 a0001c0003t0002g0326 a0002c0002t0001g0289	6	368	0.0163	24	c.224 others(41): Show c.224-3156_224-3133dupATATATATATATATATATATATAT	HCRTR2	ENSG00000137252.10	transcript	ENST00000370862.4	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
HDAC2_chr6_113928028_113976148	113930737	T T	TCTCTCTC others(17): Show TCTCTCTCTCTCTCTCTCTCTCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0082 a0001c0001t0022g0082	1	402	0.0025	24	c.10 others(37): Show c.10320_*10321insGGAGAGAGAGAGAGAGAGAGAGAG	HDAC2	ENSG00000196591.12	transcript	ENST00000519065.6	protein_coding		2290		chr6	TogoVar
HDAC4_chr2_239043168_239406020	239048560	T T	TATAGATA others(17): Show TATAGATAGATAGATAGATAGATAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01358.hp2 HG03516.hp1 HG01358.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0057 a0001c0004t0059 a0001c0001t0057 a0001c0004t0059	a0001c0001t0057g0088 a0001c0004t0059g0006 a0001c0001t0057g0088 a0001c0004t0059g0006	2	242	0.0083	24	c.45 others(35): Show c.4513_*4536dupCTATCTATCTATCTATCTATCTAT	HDAC4	ENSG00000068024.18	transcript	ENST00000543185.6	protein_coding	27/27	4536		chr2	TogoVar
HDAC4_chr2_239043168_239406020	239120382	G G	GGCACACA others(17): Show GGCACACACAGACGCACACACAGAC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0027 a0001c0001t0017g0027	1	242	0.0041	24	c.153 others(43): Show c.1534-5073_1534-5072insGTCTGTGTGTGCGTCTGTGTGTGC	HDAC4	ENSG00000068024.18	transcript	ENST00000543185.6	protein_coding	12/26			chr2	TogoVar
HDAC8_chrX_72324516_72577843	72411030	C C	CTTTTCTT others(17): Show CTTTTCTTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01167.hp1 HG01169.hp2 others(14): Show HG01109.hp1 HG01167.hp1 HG01169.hp2 HG02257.hp1 HG02451.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02976.hp2 HG03041.hp1 HG03453.hp1 HG03486.hp2 NA18906.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0024 a0001c0001t0001g0069 a0001c0001t0001g0098 others(14): Show a0001c0001t0001g0024 a0001c0001t0001g0069 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0002g0068 a0001c0001t0002g0196 a0001c0002t0001g0176 a0001c0002t0001g0183 a0001c0002t0001g0185 a0001c0002t0001g0187 a0001c0002t0001g0190	17	208	0.0817	24	c.100 others(45): Show c.1005+50973_1005+50974insAAGAAAGAAAGAAAGAAAAGAAAA	HDAC8	ENSG00000147099.21	transcript	ENST00000373573.9	protein_coding	9/10			chrX	TogoVar
HDAC8_chrX_72324516_72577843	72453464	T T	TAAAGAAA others(17): Show TAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02451.hp1 HG02109.hp2 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0203 a0001c0004t0001g0208 a0001c0001t0001g0203 a0001c0004t0001g0208	2	208	0.0096	24	c.100 others(43): Show c.1005+8516_1005+8539dupCTTTCTTTCTTTCTTTCTTTCTTT	HDAC8	ENSG00000147099.21	transcript	ENST00000373573.9	protein_coding	9/10			chrX	TogoVar
HDAC9_chr7_18490749_19007416	18547806	C C	CCCTTCCT others(17): Show CCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02280.hp2 NA21309.hp1 HG02280.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0014 a0001c0003t0015 a0001c0001t0014 a0001c0003t0015	a0001c0001t0014g0017 a0001c0003t0015g0004 a0001c0001t0014g0017 a0001c0003t0015g0004	2	156	0.0128	24	c.23- others(41): Show c.23-37447_23-37424dupTCCTTCCTTCCTTCCTTCCTTCCT	HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	2/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
HDAC9_chr7_18490749_19007416	18547854	T T	TCCTTCCT others(17): Show TCCTTCCTTCCTTCCTTCCTTCCTA	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0113 a0001c0002t0002g0113	1	156	0.0064	24	c.23- others(41): Show c.23-37424_23-37423insTCCTTCCTTCCTTCCTTCCTACCT	HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	2/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
HDAC9_chr7_18490749_19007416	18568026	G G	GTGTATAT others(17): Show GTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01071.hp2 NA21309.hp2 HG01071.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0010 a0001c0005t0004 a0001c0001t0010 a0001c0005t0004	a0001c0001t0010g0153 a0001c0005t0004g0104 a0001c0001t0010g0153 a0001c0005t0004g0104	2	156	0.0128	24	c.23- others(41): Show c.23-17254_23-17253insGTATATATATATATATATATATAT	HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	2/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
HDAC9_chr7_18490749_19007416	18732722	C C	CACACGTG others(17): Show CACACGTGTATGTGTGCGTATGTGT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0006 a0001c0003t0005g0006	1	156	0.0064	24	c.190 others(43): Show c.1909+4969_1909+4970insGTGTATGTGTGCGTATGTGTACAC	HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	13/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
HDAC9_chr7_18490749_19007416	18732854	T T	TGTGTGCG others(17): Show TGTGTGCGTATGTGTACACACACAC	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG03098.hp1 NA20300.hp2 HG01071.hp2 HG03098.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0007 a0001c0005t0002 a0001c0005t0004 a0001c0001t0007 a0001c0005t0002 a0001c0005t0004	a0001c0001t0007g0047 a0001c0005t0002g0105 a0001c0005t0004g0104 a0001c0001t0007g0047 a0001c0005t0002g0105 a0001c0005t0004g0104	3	156	0.0192	24	c.190 others(43): Show c.1909+5137_1909+5160dupCACACACACGTGTGCGTATGTGTA	HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	13/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
HDAC9_chr7_18490749_19007416	18732944	C C	CACACACG others(17): Show CACACACGTGTGTATGTGTGTATAT	intron_variant intron_variant	MODIFIER	HG02976.hp1 NA19056.hp1 NA20129.hp1 HG02976.hp1 NA19056.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0007 a0001c0002t0001 a0001c0002t0003 a0001c0002t0007	a0001c0002t0001g0033 a0001c0002t0003g0080 a0001c0002t0007g0027 a0001c0002t0001g0033 a0001c0002t0003g0080 a0001c0002t0007g0027	3	156	0.0192	24	c.190 others(43): Show c.1909+5191_1909+5192insACGTGTGTATGTGTGTATATACAC	HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	13/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
HDAC9_chr7_18490749_19007416	18732944	C C	CACACATG others(17): Show CACACATGTGTATGTGTGTGTATAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02280.hp1 HG03540.hp1 others(1): Show HG01109.hp1 HG02280.hp1 HG03540.hp1 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0034 a0001c0002t0002 a0001c0004t0009 others(1): Show a0001c0001t0034 a0001c0002t0002 a0001c0004t0009 a0001c0004t0040	a0001c0001t0034g0093 a0001c0002t0002g0113 a0001c0004t0009g0131 others(1): Show a0001c0001t0034g0093 a0001c0002t0002g0113 a0001c0004t0009g0131 a0001c0004t0040g0016	4	156	0.0256	24	c.190 others(43): Show c.1909+5191_1909+5192insATGTGTATGTGTGTGTATATACAC	HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	13/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
HDAC9_chr7_18490749_19007416	18732944	C C	CACACGTG others(17): Show CACACGTGTGTATGTATGTGTATAT	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01175.hp2 HG02055.hp1 HG01169.hp2 HG01175.hp2 HG02055.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0004 a0001c0002t0019 a0001c0002t0003 a0001c0002t0004 a0001c0002t0019	a0001c0002t0003g0108 a0001c0002t0004g0102 a0001c0002t0019g0059 a0001c0002t0003g0108 a0001c0002t0004g0102 a0001c0002t0019g0059	3	156	0.0192	24	c.190 others(43): Show c.1909+5195_1909+5196insGTATGTATGTGTATATACACGTGT	HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	13/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
HDAC9_chr7_18490749_19007416	18789286	G G	GCGCGCAC others(17): Show GCGCGCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02630.hp2 HG01884.hp1 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0006 a0001c0006t0009 a0001c0001t0006 a0001c0006t0009	a0001c0001t0006g0039 a0001c0006t0009g0042 a0001c0001t0006g0039 a0001c0006t0009g0042	2	156	0.0128	24	c.221 others(43): Show c.2215-4058_2215-4057insGCGCACACACACACACACACACAC	HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	16/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
HDAC9_chr7_18490749_19007416	18824044	G G	GGAAGAAG others(17): Show GGAAGAAGAAGAAGAAGAAGAAGAA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0049 a0001c0002t0012g0049	1	156	0.0064	24	c.232 others(43): Show c.2323-5095_2323-5072dupGAAGAAGAAGAAGAAGAAGAAGAA	HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	17/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
HDAC9_chr7_18490749_19007416	18824044	G G	GGAAGAGG others(17): Show GGAAGAGGAAGAAGAAGAAGAAGAA	intron_variant intron_variant	MODIFIER	HG02273.hp1 NA18612.hp1 NA18939.hp1 others(1): Show HG02273.hp1 NA18612.hp1 NA18939.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0002 a0001c0002t0003 others(1): Show a0001c0001t0005 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005	a0001c0001t0005g0076 a0001c0002t0002g0086 a0001c0002t0003g0078 others(1): Show a0001c0001t0005g0076 a0001c0002t0002g0086 a0001c0002t0003g0078 a0001c0002t0005g0124	4	156	0.0256	24	c.232 others(43): Show c.2323-5112_2323-5111insGGAAGAAGAAGAAGAAGAAGAAGA	HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	17/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
HDAC9_chr7_18490749_19007416	18824044	G G	GGAAGAGG others(17): Show GGAAGAGGAAGAGGAAGAAGAAGAA	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG02615.hp2 NA19007.hp2 others(2): Show HG01169.hp2 HG02615.hp2 NA19007.hp2 NA19030.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0031 a0001c0001t0044 others(2): Show a0001c0001t0002 a0001c0001t0031 a0001c0001t0044 a0001c0002t0004 a0001c0002t0005	a0001c0001t0002g0148 a0001c0001t0031g0152 a0001c0001t0044g0008 others(2): Show a0001c0001t0002g0148 a0001c0001t0031g0152 a0001c0001t0044g0008 a0001c0002t0004g0102 a0001c0002t0005g0121	5	156	0.0321	24	c.232 others(43): Show c.2323-5112_2323-5111insGGAAGAGGAAGAAGAAGAAGAAGA	HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	17/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
HDAC9_chr7_18490749_19007416	18932848	A A	AAAAGAAA others(17): Show AAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01071.hp2 HG01081.hp2 others(7): Show HG00738.hp2 HG01071.hp2 HG01081.hp2 HG01175.hp2 HG02129.hp1 HG02258.hp2 HG02523.hp1 HG02896.hp1 NA18612.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 others(6): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0028 a0001c0001t0039 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0005t0004	a0001c0001t0004g0089 a0001c0001t0004g0128 a0001c0001t0005g0143 others(7): Show a0001c0001t0004g0089 a0001c0001t0004g0128 a0001c0001t0005g0143 a0001c0001t0007g0151 a0001c0001t0028g0069 a0001c0001t0039g0129 a0001c0002t0001g0126 a0001c0002t0002g0097 a0001c0002t0003g0108 a0001c0005t0004g0104	10	156	0.0641	24	c.280 others(43): Show c.2804-2952_2804-2929dupAAAGAAAGAAAGAAAGAAAGAAAG	HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	22/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
HDAC9_chr7_18490749_19007416	18960009	A A	AACACACA others(17): Show AACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0019	a0001c0002t0019g0059 a0001c0002t0019g0059	1	156	0.0064	24	c.302 others(43): Show c.3022+5789_3022+5812dupCACACACACACACACACACACACA	HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	24/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
HDDC2_chr6_125270350_125306967	125301442	T T	TACACACA others(17): Show TACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0149 a0001c0001t0003g0149	1	374	0.0027	24	c.84+ others(37): Show c.84+406_84+407insGTGTGTGTGTGTGTGTGTGTGTGT	HDDC2	ENSG00000111906.18	transcript	ENST00000398153.7	protein_coding	1/5			chr6	TogoVar
HDDC2_chr6_125270350_125306967	125301482	G G	GCACACAC others(17): Show GCACACACACGCGCGCACACACACA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03453.hp2 HG03516.hp2 HG03225.hp2 HG03453.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0032 a0001c0001t0003g0032	3	374	0.0080	24	c.84+ others(37): Show c.84+366_84+367insTGTGTGTGTGCGCGCGTGTGTGTG	HDDC2	ENSG00000111906.18	transcript	ENST00000398153.7	protein_coding	1/5			chr6	TogoVar
HDGFL2_chr19_4467297_4507207	4467392	T T	TATATAAT others(17): Show TATATAATATATATTATATAAAATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0008 a0008	a0008c0020 a0008c0020	a0008c0020t0004 a0008c0020t0004	a0008c0020t0004g0022 a0008c0020t0004g0022	1	358	0.0028	24	c.-49 others(35): Show c.-4959_-4958insATATAATATATATTATATAAAATA	HDGFL2	ENSG00000167674.15	transcript	ENST00000616600.5	protein_coding		4904		chr19	TogoVar
HDHD3_chr9_113368422_113381986	113381412	C C	CCTCCCTC others(17): Show CCTCCCTCCCTCCCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0006 a0002c0002t0003g0006	1	464	0.0022	24	c.-49 others(35): Show c.-4975_-4974insAGAGAGAGAGAGGGAGGGAGGGAG	HDHD3	ENSG00000119431.10	transcript	ENST00000374180.4	protein_coding		4427		chr9	TogoVar
HDHD3_chr9_113368422_113381986	113381760	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	464	0.0022	24	c.-53 others(35): Show c.-5323_-5322insAAAAAAAAAAAAAAAAAAAAAAAA	HDHD3	ENSG00000119431.10	transcript	ENST00000374180.4	protein_coding		4775		chr9	TogoVar
HDHD5_chr22_17132520_17164277	17157076	T T	TCACACAC others(17): Show TCACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03927.hp2 NA19004.hp2 HG03927.hp2 NA19004.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0048 a0001c0004t0001g0048	2	422	0.0047	24	c.126 others(41): Show c.126+2049_126+2050insTGTGTGTGTGTGTGTGTGTGTGTG	HDHD5	ENSG00000069998.12	transcript	ENST00000336737.8	protein_coding	1/7			chr22	TogoVar
HDX_chrX_84312878_84507453	84417218	G G	GAAAAAGA others(17): Show GAAAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG03831.hp1 NA18968.hp2 HG03831.hp1 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0086 a0001c0001t0002g0174 a0001c0001t0002g0086 a0001c0001t0002g0174	2	269	0.0074	24	c.130 others(45): Show c.1305+23313_1305+23314insTTCTTTCTTTCTTTCTTTCTTTTT	HDX	ENSG00000165259.14	transcript	ENST00000373177.3	protein_coding	5/10			chrX	TogoVar
HEATR4_chr14_73473484_73563947	73509866	A A	ATATATAT others(17): Show ATATATATTTATATATTTATTTATT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0003 a0002c0005t0003	a0002c0005t0003g0199 a0002c0005t0003g0199	1	368	0.0027	24	c.155 others(41): Show c.1559-394_1559-393insAATAAATAAATATATAAATATATA	HEATR4	ENSG00000187105.9	transcript	ENST00000553558.6	protein_coding	7/17			chr14	TogoVar
HEATR4_chr14_73473484_73563947	73524310	A A	AAAAAAAA others(17): Show AAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0003 a0003c0007t0003	a0003c0007t0003g0198 a0003c0007t0003g0198	1	368	0.0027	24	c.-72 others(41): Show c.-72-1087_-72-1086insATATATATATATTTTTTTTTTTTT	HEATR4	ENSG00000187105.9	transcript	ENST00000553558.6	protein_coding	2/17			chr14	TogoVar
HEATR5B_chr2_36975895_37089372	36984215	A A	AAAAAAAA others(17): Show AAAAAAAAAAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0180 a0002c0003t0002g0180	1	314	0.0032	24	c.591 others(43): Show c.5912-2422_5912-2421insATTTTTTTTTTTTTTTTTTTTTTT	HEATR5B	ENSG00000008869.12	transcript	ENST00000233099.6	protein_coding	35/35			chr2	TogoVar
HEATR5B_chr2_36975895_37089372	36984215	A A	AAAAAAAA others(17): Show AAAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02080.hp1 HG02015.hp1 HG02080.hp1	a0001 a0008 a0001 a0008	a0001c0002 a0008c0024 a0001c0002 a0008c0024	a0001c0002t0001 a0008c0024t0001 a0001c0002t0001 a0008c0024t0001	a0001c0002t0001g0276 a0008c0024t0001g0235 a0001c0002t0001g0276 a0008c0024t0001g0235	2	314	0.0064	24	c.591 others(43): Show c.5912-2422_5912-2421insATATATATATTTTTTTTTTTTTTT	HEATR5B	ENSG00000008869.12	transcript	ENST00000233099.6	protein_coding	35/35			chr2	TogoVar

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