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
H4C12_chr6_27826174_27836560	27832890	T T	TTTTTTTT others(10): Show TTTTTTTTTTTTTTTTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp1 HG02572.hp1 HG01255.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	419	0.0048	17	c.-13 others(28): Show c.-1364_-1363insCAAAAAAAAAAAAAAAA	H4C12	ENSG00000273542.2	transcript	ENST00000611927.2	protein_coding		1331		chr6	TogoVar
H4C14_chr1_149827657_149838052	149827857	C C	CTTTCTTT others(10): Show CTTTCTTTCTTTCTTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp2 HG01258.hp1 NA18988.hp2 HG01257.hp2 HG01258.hp1 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	3	236	0.0127	17	c.-48 others(28): Show c.-4828_-4827insTTTCTTTCTTTCTTTCT	H4C14	ENSG00000270882.3	transcript	ENST00000578186.3	protein_coding		4799		chr1	TogoVar
H4C2_chr6_26021896_26032283	26031178	A A	ATATATAT others(10): Show ATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp2 NA19043.hp1 HG03834.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	400	0.0050	17	c.-39 others(28): Show c.-3927_-3926insATATATATATATATATA	H4C2	ENSG00000278705.3	transcript	ENST00000377745.5	protein_coding		3896		chr6	TogoVar
H6PD_chr1_9229774_9276337	9234707	G G	GCGCCCCC others(10): Show GCGCCCCCGCCCCGCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG02630.hp2 HG02809.hp2 others(5): Show HG02615.hp2 HG02630.hp2 HG02809.hp2 HG02895.hp1 HG03098.hp2 HG03209.hp1 HG03453.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0043 a0002c0011 a0002c0012 others(2): Show a0001c0043 a0002c0011 a0002c0012 a0002c0018 a0002c0041	a0001c0043t0011 a0002c0011t0011 a0002c0012t0042 others(2): Show a0001c0043t0011 a0002c0011t0011 a0002c0012t0042 a0002c0018t0043 a0002c0041t0041	a0001c0043t0011g0156 a0002c0011t0011g0034 a0002c0011t0011g0152 others(4): Show a0001c0043t0011g0156 a0002c0011t0011g0034 a0002c0011t0011g0152 a0002c0011t0011g0153 a0002c0012t0042g0158 a0002c0018t0043g0154 a0002c0041t0041g0155	8	404	0.0198	17	c.-37 others(26): Show c.-370_-369insCGCCCCCGCCCCGCCCC	H6PD	ENSG00000049239.13	transcript	ENST00000377403.7	protein_coding		66		chr1	TogoVar
H6PD_chr1_9229774_9276337	9237236	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0021 a0021	a0021c0035 a0021c0035	a0021c0035t0039 a0021c0035t0039	a0021c0035t0039g0142 a0021c0035t0039g0142	1	404	0.0025	17	c.-11 others(34): Show c.-11+2180_-11+2196dupTTTTTTTTTTTTTTTTT	H6PD	ENSG00000049239.13	transcript	ENST00000377403.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
HABP4_chr9_96445169_96496336	96494756	T T	TCCCCTCC others(10): Show TCCCCTCCCGTCCCCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0279 a0001c0001t0001g0279	1	306	0.0033	17	c.47 others(28): Show c.4718_*4719insCCCCTCCCGTCCCCTCC	HABP4	ENSG00000130956.14	transcript	ENST00000375249.5	protein_coding		3421		chr9	TogoVar
HACD1_chr10_17584032_17622374	17591976	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0088 a0002c0003t0003g0088	1	410	0.0024	17	c.785 others(34): Show c.785-1547_785-1531dupAAAAAAAAAAAAAAAAA	HACD1	ENSG00000165996.14	transcript	ENST00000361271.8	protein_coding	6/6			chr10	TogoVar
HACD1_chr10_17584032_17622374	17609155	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	410	0.0024	17	c.258 others(34): Show c.258-5125_258-5109dupAAAAAAAAAAAAAAAAA	HACD1	ENSG00000165996.14	transcript	ENST00000361271.8	protein_coding	1/6			chr10	TogoVar
HACD2_chr3_123486554_123590053	123542146	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0097 a0001c0002t0005g0097	1	350	0.0029	17	c.293 others(36): Show c.293-13689_293-13673dupTTTTTTTTTTTTTTTTT	HACD2	ENSG00000206527.10	transcript	ENST00000383657.10	protein_coding	3/6			chr3	TogoVar
HACD3_chr15_65525463_65583349	65531224	T T	TGGGGGAG others(10): Show TGGGGGAGGGGAGGGGTG	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0017 a0001c0001t0009g0017	1	328	0.0031	17	c.87+ others(30): Show c.87+511_87+512insAGGGGAGGGGTGGGGGG	HACD3	ENSG00000074696.13	transcript	ENST00000261875.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
HACE1_chr6_104723094_104864919	104831981	A A	AAGAGAAG others(10): Show AAGAGAAGAGAAGAGAAG	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0319 a0001c0001t0001g0319	1	346	0.0029	17	c.534 others(34): Show c.534+1060_534+1061insCTTCTCTTCTCTTCTCT	HACE1	ENSG00000085382.12	transcript	ENST00000262903.9	protein_coding	6/23			chr6	TogoVar
HACL1_chr3_15555699_15606569	15600068	G G	GATAAAGA others(10): Show GATAAAGAATGTCATTCA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01884.hp2 HG02257.hp2 others(1): Show HG01081.hp1 HG01884.hp2 HG02257.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0187 a0001c0001t0001g0188 others(1): Show a0001c0001t0001g0047 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0377	4	428	0.0094	17	c.186 others(34): Show c.186+1005_186+1021dupTGAATGACATTCTTTAT	HACL1	ENSG00000131373.15	transcript	ENST00000321169.10	protein_coding	2/16			chr3	TogoVar
HADHB_chr2_26239939_26295465	26285739	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp1 NA18522.hp1 HG00741.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0095 a0001c0001t0001g0092 a0001c0001t0001g0095	2	290	0.0069	17	c.138 others(34): Show c.1389+170_1389+186dupTTTTTTTTTTTTTTTTT	HADHB	ENSG00000138029.14	transcript	ENST00000317799.10	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
HAGH_chr16_1802629_1831825	1830944	A A	ACACACAC others(10): Show ACACACACCCCACCCACC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp2 HG03579.hp2 NA18612.hp2 others(1): Show HG02027.hp2 HG03579.hp2 NA18612.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0003t0003 a0001c0001t0003 a0001c0003t0003	a0001c0001t0003g0027 a0001c0001t0003g0087 a0001c0001t0003g0090 others(1): Show a0001c0001t0003g0027 a0001c0001t0003g0087 a0001c0001t0003g0090 a0001c0003t0003g0135	4	436	0.0092	17	c.-41 others(28): Show c.-4158_-4157insGGTGGGTGGGGTGTGTG	HAGH	ENSG00000063854.13	transcript	ENST00000397356.8	protein_coding		4120		chr16	TogoVar
HAGH_chr16_1802629_1831825	1830945	C C	CACACACA others(10): Show CACACACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0229 a0001c0001t0002g0229	1	436	0.0023	17	c.-41 others(28): Show c.-4159_-4158insTGTGTGTGTGTGTGTGT	HAGH	ENSG00000063854.13	transcript	ENST00000397356.8	protein_coding		4121		chr16	TogoVar
HAL_chr12_95967662_96001344	95971936	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTCTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	418	0.0024	17	c.22 others(28): Show c.2295_*2296insAAAAGAAAAAAAAAAAA	HAL	ENSG00000084110.11	transcript	ENST00000261208.8	protein_coding		725		chr12	TogoVar
HAL_chr12_95967662_96001344	95971936	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(169): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00544.hp1 HG00558.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG01071.hp1 HG01106.hp1 HG01109.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01256.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp2 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02040.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02698.hp1 HG02723.hp2 HG02809.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG03130.hp1 HG03130.hp2 HG03209.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03831.hp1 HG04184.hp2 HG04228.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18940.hp2 NA18943.hp1 NA18946.hp1 NA18946.hp2 NA18948.hp2 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18959.hp1 NA18960.hp2 NA18961.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18974.hp1 NA18977.hp1 NA18978.hp2 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18985.hp1 NA18986.hp1 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18990.hp1 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19011.hp2 NA19043.hp2 NA19062.hp1 NA19064.hp1 NA19064.hp2 NA19066.hp2 NA19068.hp1 NA19072.hp1 NA19074.hp1 NA19074.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19089.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0007 a0011	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0002c0004 a0003c0010 a0004c0009 a0007c0016 a0011c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(31): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0014 a0001c0001t0019 a0001c0001t0022 a0001c0001t0036 a0001c0001t0041 a0001c0001t0043 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0010 a0001c0002t0020 a0001c0002t0040 a0001c0003t0005 a0001c0003t0012 a0001c0003t0027 a0001c0003t0030 a0001c0003t0035 a0001c0005t0001 a0001c0006t0013 a0001c0007t0001 a0001c0007t0019 a0001c0008t0001 a0002c0004t0003 a0003c0010t0023 a0004c0009t0001 a0007c0016t0001 a0011c0017t0003	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 others(99): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0036 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0055 a0001c0001t0001g0073 a0001c0001t0001g0110 a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0138 a0001c0001t0001g0159 a0001c0001t0001g0163 a0001c0001t0001g0167 a0001c0001t0001g0170 a0001c0001t0001g0175 a0001c0001t0001g0214 a0001c0001t0001g0221 a0001c0001t0001g0226 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0002g0005 a0001c0001t0002g0029 a0001c0001t0002g0174 a0001c0001t0003g0100 a0001c0001t0003g0111 a0001c0001t0005g0098 a0001c0001t0006g0043 a0001c0001t0006g0079 a0001c0001t0006g0103 a0001c0001t0007g0010 a0001c0001t0007g0023 a0001c0001t0007g0099 a0001c0001t0008g0011 a0001c0001t0014g0013 a0001c0001t0019g0158 a0001c0001t0019g0172 a0001c0001t0022g0068 a0001c0001t0036g0112 a0001c0001t0041g0231 a0001c0001t0043g0244 a0001c0002t0001g0012 a0001c0002t0001g0207 a0001c0002t0003g0048 a0001c0002t0003g0204 a0001c0002t0003g0206 a0001c0002t0004g0002 a0001c0002t0004g0208 a0001c0002t0004g0209 a0001c0002t0010g0049 a0001c0002t0020g0186 a0001c0002t0040g0197 a0001c0003t0005g0006 a0001c0003t0005g0018 a0001c0003t0005g0031 a0001c0003t0005g0032 a0001c0003t0005g0033 a0001c0003t0005g0037 a0001c0003t0005g0042 a0001c0003t0005g0082 a0001c0003t0005g0083 a0001c0003t0005g0086 a0001c0003t0005g0090 a0001c0003t0005g0091 a0001c0003t0005g0092 a0001c0003t0005g0093 a0001c0003t0005g0105 a0001c0003t0005g0211 a0001c0003t0005g0233 a0001c0003t0005g0234 a0001c0003t0005g0237 a0001c0003t0012g0009 a0001c0003t0027g0059 a0001c0003t0030g0062 a0001c0003t0035g0085 a0001c0005t0001g0057 a0001c0005t0001g0117 a0001c0006t0013g0020 a0001c0007t0001g0028 a0001c0007t0001g0240 a0001c0007t0019g0241 a0001c0008t0001g0183 a0002c0004t0003g0008 a0002c0004t0003g0027 a0002c0004t0003g0077 a0003c0010t0023g0030 a0004c0009t0001g0074 a0004c0009t0001g0141 a0007c0016t0001g0072 a0011c0017t0003g0216	172	418	0.4115	17	c.22 others(28): Show c.2295_*2296insAAAAAAAAAAAAAAAAA	HAL	ENSG00000084110.11	transcript	ENST00000261208.8	protein_coding		725		chr12	TogoVar
HAPLN1_chr5_83632805_83725855	83645475	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0282 a0002c0003t0005g0282	1	372	0.0027	17	c.473 others(32): Show c.473-811_473-810insAAAAAAAAAAAAAAAAA	HAPLN1	ENSG00000145681.11	transcript	ENST00000274341.9	protein_coding	3/4			chr5	TogoVar
HAPLN2_chr1_156614415_156630725	156623033	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00609.hp2 HG01258.hp2 others(29): Show HG00408.hp2 HG00609.hp2 HG01258.hp2 HG01361.hp2 HG01928.hp1 HG01928.hp2 HG01952.hp2 HG02055.hp2 HG02056.hp2 HG02074.hp2 HG02083.hp2 HG02148.hp1 HG02273.hp2 HG02602.hp1 HG02818.hp1 HG03209.hp2 HG03831.hp1 HG03831.hp2 HG03942.hp2 NA18943.hp1 NA18952.hp2 NA18957.hp2 NA18959.hp2 NA18960.hp2 NA18967.hp2 NA18979.hp1 NA18981.hp2 NA18985.hp2 NA19011.hp1 NA19066.hp2 NA19070.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0001 a0001c0001t0002 a0001c0001t0008	a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0020 others(12): Show a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0020 a0001c0001t0001g0047 a0001c0001t0001g0092 a0001c0001t0001g0109 a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0001g0119 a0001c0001t0001g0139 a0001c0001t0001g0143 a0001c0001t0002g0097 a0001c0001t0002g0120 a0001c0001t0002g0124 a0001c0001t0008g0009	32	418	0.0766	17	c.-24 others(32): Show c.-24-427_-24-426insAAAAAAAAAAAAAAAAA	HAPLN2	ENSG00000132702.13	transcript	ENST00000255039.6	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
HAS2_chr8_121607116_121646440	121642852	G G	GCCCCCCC others(10): Show GCCCCCCCCCCCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG01175.hp2 HG03927.hp2 HG00741.hp1 HG01175.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0027 a0001c0001t0050 a0001c0001t0020 a0001c0001t0027 a0001c0001t0050	a0001c0001t0020g0008 a0001c0001t0027g0058 a0001c0001t0050g0065 a0001c0001t0020g0008 a0001c0001t0027g0058 a0001c0001t0050g0065	3	376	0.0080	17	c.-20 others(28): Show c.-2001_-2000insGGGGGGGGGGGGGGGGG	HAS2	ENSG00000170961.7	transcript	ENST00000303924.5	protein_coding		1413		chr8	TogoVar
HAT1_chr2_171917461_171988686	171953626	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG06807.hp1 NA18962.hp2 NA18974.hp2 HG06807.hp1 NA18962.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0157 a0001c0001t0001g0283 a0001c0001t0001g0149 a0001c0001t0001g0157 a0001c0001t0001g0283	3	326	0.0092	17	c.309 others(32): Show c.309+638_309+654dupAAAAAAAAAAAAAAAAA	HAT1	ENSG00000128708.13	transcript	ENST00000264108.5	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
HAT1_chr2_171917461_171988686	171977557	A A	ATATATAT others(10): Show ATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02056.hp2 NA19082.hp2 HG02056.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0155 a0001c0001t0001g0146 a0001c0001t0001g0155	2	326	0.0061	17	c.975 others(34): Show c.975+1250_975+1251insATATATATATATATTTT	HAT1	ENSG00000128708.13	transcript	ENST00000264108.5	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
HAT1_chr2_171917461_171988686	171977557	A A	ATATATAT others(10): Show ATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA19083.hp2 NA18966.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0202 a0001c0001t0001g0175 a0001c0001t0001g0202	2	326	0.0061	17	c.975 others(34): Show c.975+1250_975+1251insATATATATTTTTTTTTT	HAT1	ENSG00000128708.13	transcript	ENST00000264108.5	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
HAUS2_chr15_42543838_42574994	42544836	C C	CTATATAT others(10): Show CTATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0308 a0001c0002t0004g0308	1	350	0.0029	17	c.-40 others(28): Show c.-4037_-4036insTATATATATATATATAT	HAUS2	ENSG00000137814.12	transcript	ENST00000260372.8	protein_coding		4001		chr15	TogoVar
HAUS2_chr15_42543838_42574994	42544838	C C	CTATATAT others(10): Show CTATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp1 HG03130.hp1 HG03209.hp2 HG03098.hp1 HG03130.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0011 a0001c0001t0003g0057 a0001c0001t0003g0011 a0001c0001t0003g0057	3	350	0.0086	17	c.-40 others(28): Show c.-4035_-4034insTATATATATATATATAT	HAUS2	ENSG00000137814.12	transcript	ENST00000260372.8	protein_coding		3999		chr15	TogoVar
HAUS6_chr9_19048141_19107904	19092916	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02818.hp1 HG02965.hp2 others(3): Show HG00733.hp2 HG02818.hp1 HG02965.hp2 HG03130.hp2 NA18994.hp1 NA20129.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0007 a0002c0003t0005 a0002c0003t0007	a0002c0003t0005g0355 a0002c0003t0005g0356 a0002c0003t0007g0335 others(3): Show a0002c0003t0005g0355 a0002c0003t0005g0356 a0002c0003t0007g0335 a0002c0003t0007g0336 a0002c0003t0007g0337 a0002c0003t0007g0368	6	406	0.0148	17	c.436 others(32): Show c.436+238_436+254dupTTTTTTTTTTTTTTTTT	HAUS6	ENSG00000147874.11	transcript	ENST00000380502.8	protein_coding	4/16			chr9	TogoVar
HAUS8_chr19_17044729_17080452	17055143	A A	AAAAAAAA others(10): Show AAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0187 a0002c0001t0001g0187	1	400	0.0025	17	c.787 others(32): Show c.787+717_787+718insATATATATATTTTTTTT	HAUS8	ENSG00000131351.15	transcript	ENST00000253669.10	protein_coding	9/10			chr19	TogoVar
HAVCR1_chr5_157024413_157064116	157044612	A A	AGAAAGAA others(10): Show AGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	352	0.0028	17	c.782 others(34): Show c.782-1931_782-1930insCTTTCTTTCTTTCTTTC	HAVCR1	ENSG00000113249.14	transcript	ENST00000523175.6	protein_coding	5/8			chr5	TogoVar
HAX1_chr1_154267629_154280875	154267880	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	392	0.0026	17	c.-48 others(28): Show c.-4844_-4843insTTTTTTTTTTTTTTTTT	HAX1	ENSG00000143575.16	transcript	ENST00000328703.12	protein_coding		4748		chr1	TogoVar
HAX1_chr1_154267629_154280875	154276480	A A	AGTAGGGT others(10): Show AGTAGGGTTAGTTGGTTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	392	0.0026	17	c.77 others(26): Show c.779_*780insGTAGGGTTAGTTGGTTG	HAX1	ENSG00000143575.16	transcript	ENST00000328703.12	protein_coding		606		chr1	TogoVar
HAX1_chr1_154267629_154280875	154277333	T T	TATATATA others(10): Show TATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02922.hp1 HG02809.hp2 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	2	392	0.0051	17	c.16 others(28): Show c.1632_*1633insATATATATATATATATA	HAX1	ENSG00000143575.16	transcript	ENST00000328703.12	protein_coding		1459		chr1	TogoVar
HBA1_chr16_171680_182522	179615	T T	TTTTATAC others(10): Show TTTTATACCTGAAAAATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	398	0.0025	17	c.22 others(28): Show c.2204_*2205insTTTATACCTGAAAAATG	HBA1	ENSG00000206172.8	transcript	ENST00000320868.9	protein_coding		2094		chr16	TogoVar
HBA1_chr16_171680_182522	179634	C C	CTACAATG others(10): Show CTACAATGGTAATTTATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	398	0.0025	17	c.22 others(28): Show c.2223_*2224insTACAATGGTAATTTATG	HBA1	ENSG00000206172.8	transcript	ENST00000320868.9	protein_coding		2113		chr16	TogoVar
HBM_chr16_160978_171764	169282	G G	GTGCCTCC others(10): Show GTGCCTCCATGGACAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	370	0.0027	17	c.25 others(28): Show c.2574_*2575insTGCCTCCATGGACAAAT	HBM	ENSG00000206177.7	transcript	ENST00000356815.4	protein_coding		2519		chr16	TogoVar
HBQ1_chr16_175459_186179	183579	A A	AGTAGCTG others(10): Show AGTAGCTGGGATTACAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	384	0.0026	17	c.24 others(28): Show c.2471_*2472insGTAGCTGGGATTACAGG	HBQ1	ENSG00000086506.3	transcript	ENST00000199708.3	protein_coding		2401		chr16	TogoVar
HBQ1_chr16_175459_186179	183821	G G	GCCACTGA others(10): Show GCCACTGAACTGTACACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	384	0.0026	17	c.27 others(28): Show c.2713_*2714insCCACTGAACTGTACACT	HBQ1	ENSG00000086506.3	transcript	ENST00000199708.3	protein_coding		2643		chr16	TogoVar
HBQ1_chr16_175459_186179	186016	A A	AAGGAATA others(10): Show AAGGAATACGGACACGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01496.hp2 HG01515.hp2 HG01109.hp2 HG01496.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	384	0.0078	17	c.49 others(28): Show c.4908_*4909insAGGAATACGGACACGGG	HBQ1	ENSG00000086506.3	transcript	ENST00000199708.3	protein_coding		4838		chr16	TogoVar
HBS1L_chr6_134955378_135059822	135000222	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02717.hp2 HG02723.hp2 others(10): Show HG02257.hp1 HG02717.hp2 HG02723.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02970.hp2 HG02976.hp1 HG03453.hp2 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 others(4): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 a0001c0001t0019 a0001c0001t0024 a0001c0001t0032 a0002c0003t0013	a0001c0001t0001g0048 a0001c0001t0007g0045 a0001c0001t0009g0033 others(10): Show a0001c0001t0001g0048 a0001c0001t0007g0045 a0001c0001t0009g0033 a0001c0001t0009g0036 a0001c0001t0009g0039 a0001c0001t0009g0040 a0001c0001t0009g0043 a0001c0001t0019g0031 a0001c0001t0019g0041 a0001c0001t0024g0053 a0001c0001t0032g0037 a0001c0001t0032g0038 a0002c0003t0013g0073	13	348	0.0374	17	c.539 others(34): Show c.539+2511_539+2512insAAAAAAAAAAAAAAAAA	HBS1L	ENSG00000112339.15	transcript	ENST00000367837.10	protein_coding	5/17			chr6	TogoVar
HCAR2_chr12_122696293_122708357	122704416	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 NA18906.hp2 HG02280.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	2	428	0.0047	17	c.-11 others(28): Show c.-1134_-1133insAAAAAAAAAAAAAAAAA	HCAR2	ENSG00000182782.8	transcript	ENST00000328880.6	protein_coding		1060		chr12	TogoVar
HCFC1_chrX_153942557_153976818	153972950	C C	CGGCGGCG others(10): Show CGGCGGCGGCGGCGGCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	1	268	0.0037	17	c.-21 others(28): Show c.-2111_-2110insCCGCCGCCGCCGCCGCC	HCFC1	ENSG00000172534.14	transcript	ENST00000310441.12	protein_coding		1133		chrX	TogoVar
HCK_chr20_32047242_32106856	32066331	T T	TTTTTTTT others(10): Show TTTTTTTTTTTTTTTTGA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03453.hp2 HG03471.hp1 others(4): Show HG01243.hp2 HG03453.hp2 HG03471.hp1 NA18747.hp2 NA18972.hp1 NA19007.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0054 a0001c0001t0001g0094 others(4): Show a0001c0001t0001g0019 a0001c0001t0001g0054 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0158 a0001c0001t0001g0221 a0001c0001t0001g0226	7	290	0.0241	17	c.63- others(32): Show c.63-5331_63-5330insTTTTTTTTTTTTTTTGA	HCK	ENSG00000101336.18	transcript	ENST00000375852.5	protein_coding	1/12			chr20	TogoVar
HCK_chr20_32047242_32106856	32094705	A A	AAAAGAAA others(10): Show AAAAGAAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02004.hp1 NA18960.hp1 NA18975.hp1 others(2): Show HG02004.hp1 NA18960.hp1 NA18975.hp1 NA19065.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0082 a0001c0001t0001g0091 others(2): Show a0001c0001t0001g0011 a0001c0001t0001g0082 a0001c0001t0001g0091 a0001c0001t0001g0112 a0001c0001t0001g0159	5	290	0.0172	17	c.124 others(34): Show c.1246+696_1246+697insAGAAAGAAAGAAAGAAA	HCK	ENSG00000101336.18	transcript	ENST00000375852.5	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
HCK_chr20_32047242_32106856	32099350	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	290	0.0035	17	c.137 others(34): Show c.1378+224_1378+240dupTTTTTTTTTTTTTTTTT	HCK	ENSG00000101336.18	transcript	ENST00000375852.5	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
HCN1_chr5_45249948_45701380	45385618	A A	AACAATAT others(10): Show AACAATATTTACAATATT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01891.hp1 HG02055.hp1 others(7): Show HG01261.hp2 HG01891.hp1 HG02055.hp1 HG02717.hp1 HG02886.hp2 HG02897.hp2 HG03453.hp1 HG03540.hp1 HG03579.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0122 a0001c0001t0005g0123 a0001c0001t0005g0124 others(7): Show a0001c0001t0005g0122 a0001c0001t0005g0123 a0001c0001t0005g0124 a0001c0001t0005g0125 a0001c0001t0005g0126 a0001c0001t0005g0127 a0001c0001t0005g0128 a0001c0001t0005g0129 a0001c0001t0005g0130 a0001c0001t0005g0142	10	226	0.0443	17	c.123 others(38): Show c.1230+10873_1230+10874insAATATTGTAAATATTGT	HCN1	ENSG00000164588.8	transcript	ENST00000303230.6	protein_coding	4/7			chr5	TogoVar
HCN4_chr15_73314859_73373958	73318490	C C	CCTTGCTA others(10): Show CCTTGCTAAGGGTCTAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 HG02451.hp1 HG01255.hp1 HG02451.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0014 a0001c0009t0014	a0001c0009t0014g0264 a0001c0009t0014g0265 a0001c0009t0014g0264 a0001c0009t0014g0265	2	344	0.0058	17	c.39 others(28): Show c.3990_*3991insACTAGACCCTTAGCAAG	HCN4	ENSG00000138622.4	transcript	ENST00000261917.4	protein_coding		1368		chr15	TogoVar
HCRTR2_chr6_55169515_55287617	55241861	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG03130.hp2 NA18945.hp1 others(1): Show HG00642.hp2 HG03130.hp2 NA18945.hp1 NA20805.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0006 a0001c0001 a0002c0002 a0005c0006	a0001c0001t0001 a0002c0002t0001 a0005c0006t0001 a0001c0001t0001 a0002c0002t0001 a0005c0006t0001	a0001c0001t0001g0066 a0001c0001t0001g0288 a0002c0002t0001g0178 others(1): Show a0001c0001t0001g0066 a0001c0001t0001g0288 a0002c0002t0001g0178 a0005c0006t0001g0315	4	368	0.0109	17	c.224 others(34): Show c.224-6771_224-6755dupTTTTTTTTTTTTTTTTT	HCRTR2	ENSG00000137252.10	transcript	ENST00000370862.4	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
HCRTR2_chr6_55169515_55287617	55274257	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0012 a0001c0003t0001g0012	1	368	0.0027	17	c.763 others(34): Show c.763-3123_763-3122insTATATATATATATATAT	HCRTR2	ENSG00000137252.10	transcript	ENST00000370862.4	protein_coding	4/6			chr6	TogoVar
HDAC4_chr2_239043168_239406020	239124986	C C	CGTTATAT others(10): Show CGTTATATGACATTCCAT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0004 a0001c0003t0005g0004	1	242	0.0041	17	c.153 others(36): Show c.1533+1453_1533+1469dupATGGAATGTCATATAAC	HDAC4	ENSG00000068024.18	transcript	ENST00000543185.6	protein_coding	12/26			chr2	TogoVar
HDAC4_chr2_239043168_239406020	239293466	G G	GCAGGGGC others(10): Show GCAGGGGCGGAACATTAA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0092 a0001c0001t0031g0092	1	242	0.0041	17	c.23- others(34): Show c.23-56819_23-56803dupTTAATGTTCCGCCCCTG	HDAC4	ENSG00000068024.18	transcript	ENST00000543185.6	protein_coding	2/26			chr2	TogoVar
HDAC4_chr2_239043168_239406020	239369122	C C	CAGACAGG others(10): Show CAGACAGGCCCTCTCTGG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0065 a0001c0003t0065	a0001c0003t0065g0038 a0001c0003t0065g0038	1	242	0.0041	17	c.-21 others(38): Show c.-219-16221_-219-16205dupCCAGAGAGGGCCTGTCT	HDAC4	ENSG00000068024.18	transcript	ENST00000543185.6	protein_coding	1/26			chr2	TogoVar

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