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
HPCAL1_chr2_10297904_10432604	10429504	A A	ATGGGTGG others(13): Show ATGGGTGGGTGGGTGGATGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0014 a0001c0001t0003g0014	1	314	0.0032	20	c.26 others(31): Show c.2683_*2684insTGGGTGGGTGGGTGGATGGG	HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding		1901		chr2	TogoVar
HPCAL1_chr2_10297904_10432604	10429569	T T	TGGGTGAA others(13): Show TGGGTGAATGGTTGGGTGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0127 a0001c0001t0016g0127	1	314	0.0032	20	c.27 others(31): Show c.2748_*2749insGGGTGAATGGTTGGGTGGGC	HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding		1966		chr2	TogoVar
HPDL_chr1_45321895_45333710	45324438	C C	CTAAATAA others(13): Show CTAAATAAATAAATAAATAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp2 HG02886.hp1 others(1): Show HG01891.hp1 HG01891.hp2 HG02886.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	4	410	0.0098	20	c.-27 others(31): Show c.-2711_-2710insTAAATAAATAAATAAATAAA	HPDL	ENSG00000186603.7	transcript	ENST00000334815.6	protein_coding		2456		chr1	TogoVar
HPDL_chr1_45321895_45333710	45326473	C C	CGTGTGTG others(13): Show CGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG03654.hp1 HG00099.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	410	0.0049	20	c.-67 others(29): Show c.-676_-675insGTGTGTGTGTGTGTGTGTGT	HPDL	ENSG00000186603.7	transcript	ENST00000334815.6	protein_coding		421		chr1	TogoVar
HPD_chr12_121834527_121863859	121834987	T T	TTTTCTTT others(13): Show TTTTCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00438.hp2 others(35): Show HG00099.hp1 HG00140.hp2 HG00438.hp2 HG00597.hp1 HG00639.hp2 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01074.hp2 HG01106.hp1 HG01106.hp2 HG01255.hp2 HG01346.hp1 HG01981.hp1 HG02015.hp2 HG02129.hp1 HG02135.hp1 HG02165.hp1 HG02293.hp1 HG02300.hp1 HG02523.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp2 HG03942.hp2 NA18612.hp1 NA18957.hp2 NA18982.hp2 NA18985.hp1 NA18992.hp2 NA19000.hp1 NA19003.hp2 NA19010.hp1 NA19010.hp2 NA19054.hp1 NA19055.hp1 NA19088.hp2 homoSapiens_chm13v2.hp1	a0001 a0006 a0007 a0001 a0006 a0007	a0001c0001 a0001c0004 a0006c0008 others(1): Show a0001c0001 a0001c0004 a0006c0008 a0007c0011	a0001c0001t0001 a0001c0004t0001 a0006c0008t0001 others(1): Show a0001c0001t0001 a0001c0004t0001 a0006c0008t0001 a0007c0011t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0014 others(28): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0027 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0052 a0001c0001t0001g0166 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0233 a0001c0001t0001g0243 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0255 a0001c0001t0001g0259 a0001c0001t0001g0262 a0001c0001t0001g0266 a0001c0001t0001g0278 a0001c0001t0001g0281 a0001c0001t0001g0283 a0001c0004t0001g0238 a0001c0004t0001g0239 a0006c0008t0001g0062 a0006c0008t0001g0093 a0007c0011t0001g0272	38	406	0.0936	20	c.47 others(31): Show c.4740_*4741insGAAAGAAAGAAAGAAAGAAA	HPD	ENSG00000158104.11	transcript	ENST00000289004.8	protein_coding		4539		chr12	TogoVar
HPD_chr12_121834527_121863859	121834988	T T	TTTCTTTC others(13): Show TTTCTTTCTTTCTTTCTTTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp1 HG01258.hp2 HG01256.hp1 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	2	406	0.0049	20	c.47 others(31): Show c.4739_*4740insGGAAAGAAAGAAAGAAAGAA	HPD	ENSG00000158104.11	transcript	ENST00000289004.8	protein_coding		4538		chr12	TogoVar
HPGDS_chr4_94293535_94347836	94340309	C C	CTTTCTTT others(13): Show CTTTCTTTCTTTCTTTCTTTT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	312	0.0032	20	c.-10 others(37): Show c.-10+2485_-10+2486insAAAAGAAAGAAAGAAAGAAA	HPGDS	ENSG00000163106.11	transcript	ENST00000295256.10	protein_coding	1/5			chr4	TogoVar
HPGDS_chr4_94293535_94347836	94340312	T T	TCTTTCTT others(13): Show TCTTTCTTTCTTTTTCTTTTC	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	312	0.0032	20	c.-10 others(37): Show c.-10+2482_-10+2483insGAAAAGAAAAAGAAAGAAAG	HPGDS	ENSG00000163106.11	transcript	ENST00000295256.10	protein_coding	1/5			chr4	TogoVar
HPGD_chr4_174485175_174527488	174497568	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03195.hp2 NA18972.hp1 HG02630.hp1 HG03195.hp2 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0005 a0001c0002t0005 a0001c0001t0003 a0001c0001t0005 a0001c0002t0005	a0001c0001t0003g0273 a0001c0001t0005g0168 a0001c0002t0005g0132 a0001c0001t0003g0273 a0001c0001t0005g0168 a0001c0002t0005g0132	3	414	0.0073	20	c.422 others(37): Show c.422-1964_422-1945dupAAAAAAAAAAAAAAAAAAAA	HPGD	ENSG00000164120.14	transcript	ENST00000296522.11	protein_coding	4/6			chr4	TogoVar
HPN_chr19_35036721_35071573	35048028	A A	AAAAGAAA others(13): Show AAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp1 HG03491.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0174 a0001c0001t0002g0175	2	384	0.0052	20	c.17- others(35): Show c.17-1226_17-1207dupGAAAGAAAGAAAGAAAGAAA	HPN	ENSG00000105707.15	transcript	ENST00000672452.2	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
HPN_chr19_35036721_35071573	35048082	A A	AAGAAAGA others(13): Show AAGAAAGAAAGAAAGAAAAGG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00423.hp1 HG01123.hp1 others(12): Show HG00099.hp1 HG00423.hp1 HG01123.hp1 HG01168.hp1 HG01169.hp1 HG02615.hp1 HG02622.hp1 HG02809.hp1 HG03130.hp2 HG03195.hp2 HG03516.hp2 HG03579.hp2 NA18992.hp1 NA18995.hp2 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0018 a0001c0001t0001g0111 a0001c0001t0001g0179 others(11): Show a0001c0001t0001g0018 a0001c0001t0001g0111 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0187 a0001c0001t0001g0307 a0001c0001t0001g0325 a0001c0001t0002g0043 a0001c0001t0002g0047 a0001c0001t0002g0173 a0001c0001t0002g0178 a0001c0001t0002g0255 a0001c0001t0002g0262 a0001c0001t0002g0263	15	384	0.0391	20	c.17- others(35): Show c.17-1207_17-1206insGAAAGAAAGAAAGAAAAGGA	HPN	ENSG00000105707.15	transcript	ENST00000672452.2	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
HPS3_chr3_149124638_149178732	149172318	T T	TCACACAC others(13): Show TCACACACACACACACACACA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0028 a0001c0005t0028	a0001c0005t0028g0016 a0001c0005t0028g0016	1	392	0.0026	20	c.11 others(29): Show c.115_*134dupCACACACACACACACACACA	HPS3	ENSG00000163755.9	transcript	ENST00000296051.7	protein_coding	17/17	135	INFO_REALIGN_3_PRIME	chr3	TogoVar
HPS3_chr3_149124638_149178732	149175664	A A	AGTGTGTG others(13): Show AGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp2 HG02735.hp2 HG03579.hp1 HG02698.hp2 HG02735.hp2 HG03579.hp1	a0001 a0001	a0001c0005 a0001c0006 a0001c0005 a0001c0006	a0001c0005t0019 a0001c0006t0011 a0001c0005t0019 a0001c0006t0011	a0001c0005t0019g0133 a0001c0006t0011g0140 a0001c0006t0011g0144 a0001c0005t0019g0133 a0001c0006t0011g0140 a0001c0006t0011g0144	3	392	0.0077	20	c.34 others(31): Show c.3442_*3443insGTGTGTGTGTGTGTGTGTGT	HPS3	ENSG00000163755.9	transcript	ENST00000296051.7	protein_coding		1933		chr3	TogoVar
HPS5_chr11_18273676_18327140	18302831	G G	GGGGGGGG others(13): Show GGGGGGGGGGGGGGGGGGGGA	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0073 a0001c0003t0003g0073	1	372	0.0027	20	c.897 others(37): Show c.897-1916_897-1915insTCCCCCCCCCCCCCCCCCCC	HPS5	ENSG00000110756.18	transcript	ENST00000349215.8	protein_coding	8/22			chr11	TogoVar
HPSE2_chr10_98452077_99240852	98512812	A A	AACACACA others(13): Show AACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG04184.hp1 NA18966.hp1 others(1): Show HG01361.hp2 HG04184.hp1 NA18966.hp1 NA18974.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0002c0002t0010 a0001c0001t0001 a0002c0002t0002 a0002c0002t0010	a0001c0001t0001g0086 a0002c0002t0002g0043 a0002c0002t0002g0121 others(1): Show a0001c0001t0001g0086 a0002c0002t0002g0043 a0002c0002t0002g0121 a0002c0002t0010g0042	4	142	0.0282	20	c.132 others(41): Show c.1321-22636_1321-22617dupGTGTGTGTGTGTGTGTGTGT	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	9/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	98580824	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp2 HG01981.hp1 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0060 a0001c0001t0001g0014 a0001c0001t0001g0060	2	142	0.0141	20	c.132 others(41): Show c.1320+34079_1320+34080insTATATATATATATATATATA	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	9/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	98580836	A A	ATATATAT others(13): Show ATATATATATATATGTGTGTG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0001 a0001c0001t0014g0001	1	142	0.0070	20	c.132 others(41): Show c.1320+34067_1320+34068insCACACACATATATATATATA	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	9/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	98580836	A A	ATATATAT others(13): Show ATATATATATATGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02135.hp1 HG03209.hp2 others(3): Show HG01361.hp2 HG02135.hp1 HG03209.hp2 HG04184.hp2 NA18979.hp2 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0005 a0001c0001t0017 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0017 a0002c0002t0002 a0002c0002t0010	a0001c0001t0001g0137 a0001c0001t0005g0094 a0001c0001t0017g0053 others(3): Show a0001c0001t0001g0137 a0001c0001t0005g0094 a0001c0001t0017g0053 a0002c0002t0002g0005 a0002c0002t0002g0126 a0002c0002t0010g0042	6	142	0.0423	20	c.132 others(41): Show c.1320+34067_1320+34068insCACACACACATATATATATA	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	9/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	98580836	A A	ATATATAT others(13): Show ATATATATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02451.hp1 HG01884.hp2 HG02451.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0012 a0002c0002t0012	a0002c0002t0012g0078 a0002c0002t0012g0080 a0002c0002t0012g0078 a0002c0002t0012g0080	2	142	0.0141	20	c.132 others(41): Show c.1320+34067_1320+34068insCACACACACACACATATATA	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	9/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	98600911	G G	GTATATAT others(13): Show GTATATATGTGTGTGTGTATA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00597.hp1 HG01361.hp2 others(5): Show HG00438.hp1 HG00597.hp1 HG01361.hp2 NA18962.hp1 NA18966.hp1 NA18968.hp1 NA18977.hp2 NA18979.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0002c0002t0002 a0002c0002t0010	a0001c0001t0001g0117 a0001c0001t0003g0135 a0001c0001t0004g0112 others(5): Show a0001c0001t0001g0117 a0001c0001t0003g0135 a0001c0001t0004g0112 a0001c0001t0009g0049 a0001c0001t0009g0122 a0002c0002t0002g0043 a0002c0002t0002g0126 a0002c0002t0010g0042	8	142	0.0563	20	c.132 others(41): Show c.1320+13992_1320+13993insTATACACACACACATATATA	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	9/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	98600911	G G	GTATATAT others(13): Show GTATATATGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03579.hp2 HG03209.hp1 HG03579.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0027 a0002c0002t0002 a0001c0001t0027 a0002c0002t0002	a0001c0001t0027g0003 a0002c0002t0002g0061 a0001c0001t0027g0003 a0002c0002t0002g0061	2	142	0.0141	20	c.132 others(41): Show c.1320+13992_1320+13993insTACACACACACACATATATA	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	9/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	98607058	C C	CCTCCCTC others(13): Show CCTCCCTCCCTCCCTCCCTCT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0027 a0001c0001t0005g0027	1	142	0.0070	20	c.132 others(39): Show c.1320+7826_1320+7845dupAGAGGGAGGGAGGGAGGGAG	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	9/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	98688465	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0087 a0002c0002t0002g0087	1	142	0.0070	20	c.100 others(39): Show c.1004+5434_1004+5435insAAAAAAAAAAAAAAAAAAAA	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	6/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	98749947	T T	TATATATA others(13): Show TATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18982.hp1 NA18965.hp2 NA18982.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0023 a0002c0002t0002g0022 a0001c0001t0001g0023 a0002c0002t0002g0022	2	142	0.0141	20	c.611 others(37): Show c.611-5892_611-5891insGTGTGTGTATATATATATAT	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	3/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	98749947	T T	TATATATA others(13): Show TATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	142	0.0070	20	c.611 others(37): Show c.611-5892_611-5891insGTGTGTATATATATATATAT	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	3/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	98749947	T T	TATATATA others(13): Show TATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01891.hp2 HG02258.hp1 others(8): Show HG01081.hp1 HG01891.hp2 HG02258.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG03130.hp1 HG03471.hp2 NA19030.hp1 NA19030.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0001c0001t0016 a0001c0001t0023 others(2): Show a0001c0001t0003 a0001c0001t0016 a0001c0001t0023 a0002c0002t0002 a0002c0002t0011	a0001c0001t0003g0075 a0001c0001t0003g0125 a0001c0001t0016g0025 others(8): Show a0001c0001t0003g0075 a0001c0001t0003g0125 a0001c0001t0016g0025 a0001c0001t0023g0141 a0002c0002t0002g0005 a0002c0002t0002g0076 a0002c0002t0002g0087 a0002c0002t0002g0096 a0002c0002t0011g0012 a0002c0002t0011g0074 a0002c0002t0011g0081	11	142	0.0775	20	c.611 others(37): Show c.611-5892_611-5891insGTGTATATATATATATATAT	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	3/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	98749947	T T	TATATATA others(13): Show TATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00673.hp2 others(5): Show HG00099.hp2 HG00323.hp1 HG00673.hp2 HG02273.hp2 HG02572.hp1 HG03209.hp2 HG04184.hp2 NA18968.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0005 a0001c0001t0025 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0025 a0002c0002t0002	a0001c0001t0001g0009 a0001c0001t0001g0024 a0001c0001t0001g0062 others(5): Show a0001c0001t0001g0009 a0001c0001t0001g0024 a0001c0001t0001g0062 a0001c0001t0001g0137 a0001c0001t0005g0094 a0001c0001t0025g0130 a0002c0002t0002g0029 a0002c0002t0002g0140	8	142	0.0563	20	c.611 others(37): Show c.611-5892_611-5891insGTATATATATATATATATAT	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	3/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	98778264	C C	CAGAGAGA others(13): Show CAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01884.hp2 HG01928.hp2 others(4): Show HG00323.hp2 HG01884.hp2 HG01928.hp2 HG02897.hp1 HG03540.hp1 NA19030.hp1 NA19030.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0006 a0002c0002 others(1): Show a0001c0001 a0001c0006 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0016 a0001c0006t0001 others(3): Show a0001c0001t0001 a0001c0001t0016 a0001c0006t0001 a0002c0002t0002 a0002c0002t0012 a0003c0003t0003	a0001c0001t0001g0019 a0001c0001t0001g0138 a0001c0001t0016g0025 others(4): Show a0001c0001t0001g0019 a0001c0001t0001g0138 a0001c0001t0016g0025 a0001c0006t0001g0100 a0002c0002t0002g0005 a0002c0002t0012g0078 a0003c0003t0003g0090	7	142	0.0493	20	c.611 others(39): Show c.611-34228_611-34209dupCTCTCTCTCTCTCTCTCTCT	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	3/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	98795019	A A	AGAAGGAA others(13): Show AGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00597.hp1 HG01109.hp1 others(7): Show HG00423.hp2 HG00597.hp1 HG01109.hp1 HG02809.hp2 HG03209.hp2 HG03579.hp1 NA18906.hp2 NA18950.hp2 NA18954.hp2 NA19003.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0028 a0001c0001t0030 a0002c0002t0002 a0002c0002t0013	a0001c0001t0001g0071 a0001c0001t0003g0114 a0001c0001t0004g0112 others(7): Show a0001c0001t0001g0071 a0001c0001t0003g0114 a0001c0001t0004g0112 a0001c0001t0005g0094 a0001c0001t0006g0106 a0001c0001t0009g0103 a0001c0001t0028g0097 a0001c0001t0030g0108 a0002c0002t0002g0118 a0002c0002t0013g0113	10	142	0.0704	20	c.611 others(39): Show c.611-50983_611-50964dupCTTCCTTCCTTCCTTCCTTC	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	3/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	98795051	G G	GGAAGGAA others(13): Show GGAAGGAAGGAAGGAAGGAAA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02897.hp1 NA18522.hp2 others(1): Show HG02451.hp2 HG02897.hp1 NA18522.hp2 NA18906.hp1	a0003 a0004 a0003 a0004	a0003c0003 a0004c0004 a0003c0003 a0004c0004	a0003c0003t0001 a0003c0003t0003 a0004c0004t0002 others(1): Show a0003c0003t0001 a0003c0003t0003 a0004c0004t0002 a0004c0004t0015	a0003c0003t0001g0073 a0003c0003t0003g0090 a0004c0004t0002g0098 others(1): Show a0003c0003t0001g0073 a0003c0003t0003g0090 a0004c0004t0002g0098 a0004c0004t0015g0110	4	142	0.0282	20	c.611 others(39): Show c.611-50996_611-50995insTTTCCTTCCTTCCTTCCTTC	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	3/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	98938673	C C	CCAGGAGA others(13): Show CCAGGAGAACTTCCCCAATCT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0003 a0001c0001t0027g0003	1	142	0.0070	20	c.611 others(41): Show c.611-194637_611-194618dupAGATTGGGGAAGTTCTCCTG	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	3/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	99094540	A A	ATATATAT others(13): Show ATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02886.hp1 HG01255.hp2 HG02886.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0003 a0001c0001t0001 a0003c0003t0003	a0001c0001t0001g0018 a0003c0003t0003g0111 a0001c0001t0001g0018 a0003c0003t0003g0111	2	142	0.0141	20	c.610 others(39): Show c.610+49697_610+49698insAATATATATATATATATATA	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	3/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	99132146	G G	GAAGAAAG others(13): Show GAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0125 a0001c0001t0003g0125	1	142	0.0070	20	c.610 others(39): Show c.610+12072_610+12091dupTCTTTCTTTCTTTCTTTCTT	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	3/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	99132241	G G	GAGAAAGA others(13): Show GAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	142	0.0070	20	c.610 others(39): Show c.610+11977_610+11996dupTTCTTTCTTTCTTTCTTTCT	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	3/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	99184786	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0040 a0002c0002t0002g0040	1	142	0.0070	20	c.449 others(39): Show c.449-40407_449-40388dupTATATATATATATATATATA	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	2/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	99186129	C C	CACACACA others(13): Show CACACACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0064 a0001c0001t0004g0064	1	142	0.0070	20	c.449 others(39): Show c.449-41731_449-41730insATGTGTGTGTGTGTGTGTGT	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	2/11			chr10	TogoVar
HRG_chr3_186661014_186683234	186675296	T T	TGAGAGAG others(13): Show TGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00738.hp2 NA18952.hp1 NA18992.hp1 others(1): Show HG00738.hp2 NA18952.hp1 NA18992.hp1 NA19091.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0016 a0002c0002t0001g0016	4	472	0.0085	20	c.741 others(35): Show c.741+107_741+108insAGAGAGAGAGAGAGAGAGAG	HRG	ENSG00000113905.5	transcript	ENST00000232003.5	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
HRG_chr3_186661014_186683234	186675298	T T	TGAGAGAG others(13): Show TGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0011 a0011	a0011c0013 a0011c0013	a0011c0013t0001 a0011c0013t0001	a0011c0013t0001g0056 a0011c0013t0001g0056	1	472	0.0021	20	c.741 others(35): Show c.741+109_741+110insAGAGAGAGAGAGAGAGAGAG	HRG	ENSG00000113905.5	transcript	ENST00000232003.5	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
HRH1_chr3_11149493_11268557	11164513	G G	GTGTTTTG others(13): Show GTGTTTTGTTTTGTTTTGTTT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0150 a0001c0001t0002g0150	1	352	0.0028	20	c.-36 others(37): Show c.-36+9971_-36+9990dupGTTTTGTTTTGTTTTGTTTT	HRH1	ENSG00000196639.7	transcript	ENST00000431010.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar
HRH1_chr3_11149493_11268557	11177253	T T	TTAAATAA others(13): Show TTAAATAAATAAATAAATAAA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02055.hp1 HG02486.hp1 others(6): Show HG01099.hp2 HG02055.hp1 HG02486.hp1 HG02559.hp1 HG02615.hp2 HG03130.hp2 HG03195.hp2 NA19240.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0004 a0001c0001t0006 a0001c0002t0007 others(1): Show a0001c0001t0004 a0001c0001t0006 a0001c0002t0007 a0001c0004t0009	a0001c0001t0004g0147 a0001c0001t0006g0142 a0001c0001t0006g0144 others(6): Show a0001c0001t0004g0147 a0001c0001t0006g0142 a0001c0001t0006g0144 a0001c0001t0006g0145 a0001c0001t0006g0146 a0001c0001t0006g0148 a0001c0001t0006g0149 a0001c0002t0007g0140 a0001c0004t0009g0328	9	352	0.0256	20	c.-36 others(39): Show c.-36+22712_-36+22731dupTAAATAAATAAATAAATAAA	HRH1	ENSG00000196639.7	transcript	ENST00000431010.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar
HRH1_chr3_11149493_11268557	11202404	C C	CAATAAAT others(13): Show CAATAAATAAATAAATAAATA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0327 a0001c0001t0003g0327	1	352	0.0028	20	c.-36 others(39): Show c.-36+47864_-36+47883dupATAAATAAATAAATAAATAA	HRH1	ENSG00000196639.7	transcript	ENST00000431010.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar
HRH3_chr20_62209960_62225278	62212938	G G	GGGGGGAG others(13): Show GGGGGGAGGGAGAGTGGGGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG01361.hp1 HG01928.hp1 others(18): Show HG00280.hp1 HG01361.hp1 HG01928.hp1 HG02083.hp2 HG03017.hp1 HG03209.hp2 HG03486.hp2 HG03492.hp2 HG03834.hp1 HG04204.hp1 NA18954.hp1 NA18961.hp2 NA18965.hp2 NA18975.hp2 NA18979.hp1 NA18986.hp1 NA18994.hp1 NA18994.hp2 NA19011.hp1 NA19081.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0007 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0002t0001 a0001c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0048 a0001c0001t0007g0042 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0048 a0001c0001t0007g0042 a0001c0002t0001g0002 a0001c0003t0001g0003 a0001c0003t0001g0007	21	368	0.0571	20	c.30 others(31): Show c.3067_*3068insATCCCCACTCTCCCTCCCCC	HRH3	ENSG00000101180.17	transcript	ENST00000340177.10	protein_coding		2021		chr20	TogoVar
HRH3_chr20_62209960_62225278	62213145	G G	GGGGGAAG others(13): Show GGGGGAAGGGAGAGCAGGGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG01070.hp2 HG01071.hp2 others(19): Show HG00741.hp2 HG01070.hp2 HG01071.hp2 HG01109.hp2 HG01175.hp2 HG01261.hp1 HG01515.hp2 HG01891.hp1 HG02055.hp2 HG02109.hp2 HG02165.hp1 HG02622.hp2 HG02895.hp1 HG02897.hp1 HG02897.hp2 HG02970.hp2 HG03041.hp2 HG03209.hp1 HG03453.hp2 HG03516.hp1 HG03579.hp1 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0021 a0001c0002t0001g0002 a0001c0002t0001g0005 others(3): Show a0001c0001t0001g0021 a0001c0002t0001g0002 a0001c0002t0001g0005 a0001c0002t0001g0006 a0001c0002t0001g0008 a0001c0002t0001g0011	22	368	0.0598	20	c.28 others(31): Show c.2860_*2861insATCCCTGCTCTCCCTTCCCC	HRH3	ENSG00000101180.17	transcript	ENST00000340177.10	protein_coding		1814		chr20	TogoVar
HRH3_chr20_62209960_62225278	62213442	G G	GGGAGAGC others(13): Show GGGAGAGCGGGGATGGGGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	368	0.0027	20	c.25 others(31): Show c.2563_*2564insTTCCCCCATCCCCGCTCTCC	HRH3	ENSG00000101180.17	transcript	ENST00000340177.10	protein_coding		1517		chr20	TogoVar
HRH3_chr20_62209960_62225278	62214496	G G	GCCAGCTA others(13): Show GCCAGCTAGCCCAATCCCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0011 a0001c0002t0001g0011	1	368	0.0027	20	c.15 others(31): Show c.1509_*1510insGGAGGGATTGGGCTAGCTGG	HRH3	ENSG00000101180.17	transcript	ENST00000340177.10	protein_coding		463		chr20	TogoVar
HS2ST1_chr1_86909635_87114982	86976704	G G	GTATATAT others(13): Show GTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03516.hp1 HG03209.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0052 a0001c0001t0008g0056 a0001c0001t0008g0052 a0001c0001t0008g0056	2	154	0.0130	20	c.124 others(39): Show c.124+61561_124+61562insATATATATATATATATATAT	HS2ST1	ENSG00000153936.18	transcript	ENST00000370550.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
HS2ST1_chr1_86909635_87114982	86990810	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	154	0.0065	20	c.124 others(39): Show c.124+75651_124+75652insATATATATATATATATATAT	HS2ST1	ENSG00000153936.18	transcript	ENST00000370550.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
HS2ST1_chr1_86909635_87114982	87018132	C C	CCACACAC others(13): Show CCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03486.hp2 NA20300.hp1 HG03486.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0044 a0001c0001t0003g0046 a0001c0001t0003g0044 a0001c0001t0003g0046	2	154	0.0130	20	c.125 others(39): Show c.125-54789_125-54770dupCACACACACACACACACACA	HS2ST1	ENSG00000153936.18	transcript	ENST00000370550.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
HS3ST1_chr4_11388150_11433894	11429643	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp1 HG02165.hp2 HG02258.hp2 others(8): Show HG02165.hp1 HG02165.hp2 HG02258.hp2 NA18941.hp2 NA18962.hp1 NA18968.hp2 NA18981.hp1 NA18997.hp1 NA19003.hp1 NA19056.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(4): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0025 a0001c0001t0081 a0001c0002t0003 a0001c0002t0052	a0001c0001t0001g0018 a0001c0001t0001g0228 a0001c0001t0001g0299 others(8): Show a0001c0001t0001g0018 a0001c0001t0001g0228 a0001c0001t0001g0299 a0001c0001t0005g0226 a0001c0001t0006g0198 a0001c0001t0006g0199 a0001c0001t0025g0247 a0001c0001t0081g0236 a0001c0002t0003g0258 a0001c0002t0003g0308 a0001c0002t0052g0140	11	440	0.0250	20	c.-10 others(31): Show c.-1054_-1053insAAAAAAAAAAAAAAAAAAAA	HS3ST1	ENSG00000002587.10	transcript	ENST00000002596.6	protein_coding		750		chr4	TogoVar
HS3ST2_chr16_22809162_22921338	22818908	T T	TCCTTCCT others(13): Show TCCTTCCTCCCTCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02723.hp2 HG01891.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0002 a0001c0001t0001 a0001c0004t0002	a0001c0001t0001g0286 a0001c0004t0002g0291 a0001c0001t0001g0286 a0001c0004t0002g0291	2	350	0.0057	20	c.485 others(37): Show c.485+3820_485+3821insCCCTCCCTCCCTCCCTTCCT	HS3ST2	ENSG00000122254.7	transcript	ENST00000261374.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr16	TogoVar

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