Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
GTPBP3_chr19_17332553_17347731	17335813	CGCTTGTT others(39): Show CGCTTGTTACAGATGTAACAACTAGCTTGTTACAGATGTAATAACTA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00738.hp2 others(7): Show HG00099.hp2 HG00140.hp1 HG00738.hp2 HG01123.hp2 HG02451.hp1 HG03453.hp1 HG03579.hp1 HG06807.hp1 NA20752.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0018 a0001c0001t0002 a0001c0001t0004 a0001c0001t0018	a0001c0001t0002g0058 a0001c0001t0004g0008 a0001c0001t0018g0008 a0001c0001t0002g0058 a0001c0001t0004g0008 a0001c0001t0018g0008	10	408	0.0245	-46	c.-17 others(57): Show c.-1798_-1753delGCTTGTTACAGATGTAACAACTAGCTTGTTACAG ATGTAATAACTA	GTPBP3	ENSG00000130299.17	transcript	ENST00000324894.13	protein_coding		1739		chr19	TogoVar
GUCA2A_chr1_42157690_42169745	42160459	TGTCATTT others(39): Show TGTCATTTGCAAATACAGACAATTTAACTTCTTCCTTTCCAAGTTGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0013 a0004c0004t0001g0013	1	436	0.0023	-46	c.24 others(57): Show c.2401_*2446delCCAACTTGGAAAGGAAGAAGTTAAATTGTCTGTA TTTGCAAATGAC	GUCA2A	ENSG00000197273.4	transcript	ENST00000357001.3	protein_coding		2230		chr1	TogoVar
GYG2_chrX_2823930_2887818	2844746	GTGTATAC others(39): Show GTGTATACGCACACGTATGTGTATATGTACACGTATGCATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02896.hp1 HG02897.hp1 HG01884.hp2 HG02896.hp1 HG02897.hp1	a0002 a0002	a0002c0002 a0002c0005 a0002c0002 a0002c0005	a0002c0002t0002 a0002c0005t0003 a0002c0002t0002 a0002c0005t0003	a0002c0002t0002g0038 a0002c0002t0002g0039 a0002c0005t0003g0040 a0002c0002t0002g0038 a0002c0002t0002g0039 a0002c0005t0003g0040	3	316	0.0095	-46	c.149 others(63): Show c.149+1394_149+1439delGTATACGCACACGTATGTGTATATGTAC ACGTATGCATATATATAT	GYG2	ENSG00000056998.21	transcript	ENST00000398806.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
GYG2_chrX_2823930_2887818	2845296	CACGTGTG others(39): Show CACGTGTGTATGTATATTTATATACACGTGTGTATGTATATTTATAT	C C	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG03704.hp1 others(1): Show HG01069.hp1 HG01071.hp1 HG03704.hp1 HG04199.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0003 a0001c0001t0001 a0002c0002t0003	a0001c0001t0001g0004 a0001c0001t0001g0228 a0002c0002t0003g0207 a0001c0001t0001g0004 a0001c0001t0001g0228 a0002c0002t0003g0207	4	316	0.0127	-46	c.149 others(63): Show c.149+1945_149+1990delGTGTGTATGTATATTTATATACACGTGT GTATGTATATTTATATAC	GYG2	ENSG00000056998.21	transcript	ENST00000398806.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
GYG2_chrX_2823930_2887818	2845320	CACGTGTG others(39): Show CACGTGTGTATGTATATTTATATACACGTGTGTATGTATATTTATAT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02683.hp2 HG03669.hp2 others(2): Show HG00639.hp2 HG02683.hp2 HG03669.hp2 HG03704.hp2 HG03834.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0002c0002t0004	a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0002g0054 others(2): Show a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0002g0054 a0001c0001t0004g0225 a0002c0002t0004g0302	5	316	0.0158	-46	c.149 others(63): Show c.149+1969_149+2014delGTGTGTATGTATATTTATATACACGTGT GTATGTATATTTATATAC	GYG2	ENSG00000056998.21	transcript	ENST00000398806.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
GYG2_chrX_2823930_2887818	2845344	CACGTGTG others(39): Show CACGTGTGTATGTATATTTATATACACGTGTGTATGTATATTTATAT	C C	intron_variant intron_variant	MODIFIER	HG03540.hp2 NA20300.hp1 HG03540.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0015 a0002c0002t0002 a0001c0001t0015 a0002c0002t0002	a0001c0001t0015g0046 a0002c0002t0002g0244 a0001c0001t0015g0046 a0002c0002t0002g0244	2	316	0.0063	-46	c.149 others(63): Show c.149+1993_149+2038delGTGTGTATGTATATTTATATACACGTGT GTATGTATATTTATATAC	GYG2	ENSG00000056998.21	transcript	ENST00000398806.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
GYG2_chrX_2823930_2887818	2845368	CACGTGTG others(39): Show CACGTGTGTATGTATATTTATATACACGTGTGTATGTATATTTATAT	C C	intron_variant intron_variant	MODIFIER	HG00733.hp2 NA19075.hp1 HG00733.hp2 NA19075.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0001 a0001c0001t0003 a0002c0002t0001	a0001c0001t0003g0303 a0002c0002t0001g0008 a0001c0001t0003g0303 a0002c0002t0001g0008	2	316	0.0063	-46	c.149 others(63): Show c.149+2017_149+2062delGTGTGTATGTATATTTATATACACGTGT GTATGTATATTTATATAC	GYG2	ENSG00000056998.21	transcript	ENST00000398806.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
GYG2_chrX_2823930_2887818	2845392	CACGTGTG others(39): Show CACGTGTGTATGTATATTTATATACACGTGTGTATGTATATTTATAT	C C	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03688.hp1 HG03239.hp2 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0247 a0001c0001t0001g0248	2	316	0.0063	-46	c.149 others(63): Show c.149+2041_149+2086delGTGTGTATGTATATTTATATACACGTGT GTATGTATATTTATATAC	GYG2	ENSG00000056998.21	transcript	ENST00000398806.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
GYG2_chrX_2823930_2887818	2845464	CACGTGTG others(39): Show CACGTGTGTATGTATATTTATATACACGTGTGTATGTATATTTATAT	C C	intron_variant intron_variant	MODIFIER	HG03704.hp2 NA19066.hp1 NA19074.hp2 HG03704.hp2 NA19066.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0206 a0001c0001t0001g0224 a0001c0001t0002g0220 a0001c0001t0001g0206 a0001c0001t0001g0224 a0001c0001t0002g0220	3	316	0.0095	-46	c.149 others(63): Show c.149+2113_149+2158delGTGTGTATGTATATTTATATACACGTGT GTATGTATATTTATATAC	GYG2	ENSG00000056998.21	transcript	ENST00000398806.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
GYG2_chrX_2823930_2887818	2845512	CACGTGTG others(39): Show CACGTGTGTATGTATATTTATATACACGTGTGTATGTATATTTATAT	C C	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	316	0.0032	-46	c.149 others(63): Show c.149+2161_149+2206delGTGTGTATGTATATTTATATACACGTGT GTATGTATATTTATATAC	GYG2	ENSG00000056998.21	transcript	ENST00000398806.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
H2BN1_chr17_32890433_32911586	32893148	ATAAAAAA others(39): Show ATAAAAAAAGAAAAAAACAAAAAAACAAAAAAAAAAACTTCTGATTC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0001 a0004c0005t0001g0001	1	426	0.0024	-46	c.-22 others(57): Show c.-2284_-2239delTAAAAAAAGAAAAAAACAAAAAAACAAAAAAAAA AACTTCTGATTC	H2BN1	ENSG00000290320.1	transcript	ENST00000704639.1	protein_coding		2284		chr17	TogoVar
H4C15_chr1_149855764_149866159	149865948	AAAGAAAG others(39): Show AAAGAAAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	206	0.0049	-46	c.-48 others(57): Show c.-4863_-4818delCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTCTTTCTT	H4C15	ENSG00000270276.3	transcript	ENST00000579512.3	protein_coding		4790		chr1	TogoVar
HACE1_chr6_104723094_104864919	104831950	GAAGAGAA others(39): Show GAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAGGAAGGAAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	346	0.0029	-46	c.534 others(63): Show c.534+1046_534+1091delTCCTTCCTTCCTTCCTCTCTTCTCTTCT CTTCTCTTCTCTTCTCTT	HACE1	ENSG00000085382.12	transcript	ENST00000262903.9	protein_coding	6/23			chr6	TogoVar
HDAC9_chr7_18490749_19007416	18732856	TGTGCGTA others(39): Show TGTGCGTATGTGTACACACACACGTGTGCGTATGTGTACACACACAC	T T	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0153 a0001c0001t0010g0153	1	156	0.0064	-46	c.190 others(65): Show c.1909+5103_1909+5148delCGTATGTGTACACACACACGTGTGCG TATGTGTACACACACACGTG	HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	13/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
HEATR9_chr17_35849955_35873891	35868586	TGAGAGCC others(39): Show TGAGAGCCAGGTAGCATTTCTTTTTCAGTCCCCTGCTCTTGGCTCCA	T T	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	379	0.0026	-46	c.88+ others(57): Show c.88+23_88+68delTGGAGCCAAGAGCAGGGGACTGAAAAAGAAATGC TACCTGGCTCTC	HEATR9	ENSG00000270379.6	transcript	ENST00000604834.6	protein_coding	1/14			chr17	TogoVar
HERC1_chr15_63603618_63838948	63737408	TATATATA others(39): Show TATATATATCTTTTTTCCAGATATATATATATATATCTTTTTTCCAG	T T	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0008 a0008	a0008c0036 a0008c0036	a0008c0036t0002 a0008c0036t0002	a0008c0036t0002g0098 a0008c0036t0002g0098	1	216	0.0046	-46	c.252 others(65): Show c.2521-2605_2521-2560delCTGGAAAAAAGATATATATATATATA TCTGGAAAAAAGATATATAT	HERC1	ENSG00000103657.14	transcript	ENST00000443617.7	protein_coding	12/77			chr15	TogoVar
HERPUD2_chr7_35627659_35700135	35682288	CGTGTGTG others(39): Show CGTGTGTGTGTGTATATATAGATATATACACATACACACGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03041.hp2 HG02965.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0110 a0001c0001t0006g0111 a0001c0001t0001g0110 a0001c0001t0006g0111	2	392	0.0051	-46	c.148 others(63): Show c.148-9056_148-9011delACACACACGTGTGTATGTGTATATATCT ATATATACACACACACAC	HERPUD2	ENSG00000122557.11	transcript	ENST00000311350.8	protein_coding	2/8			chr7	TogoVar
HINT3_chr6_125951770_125985244	125962243	TATATATA others(39): Show TATATATACACACATATATATATATATACATACATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0118 a0002c0002t0001g0118	1	268	0.0037	-46	c.202 others(63): Show c.202-4636_202-4591delCACACATATATATATATATACATACATA TATATATACACATATATA	HINT3	ENSG00000111911.7	transcript	ENST00000229633.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
HIVEP3_chr1_41501365_41923922	41824762	TATATATA others(39): Show TATATATATATATATATATATATAGAGAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp2 NA18974.hp1 others(2): Show HG01168.hp2 HG01169.hp2 NA18974.hp1 NA18974.hp2 NA19084.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0003t0002 a0001c0004t0082 others(2): Show a0001c0001t0001 a0001c0003t0002 a0001c0004t0082 a0001c0004t0085 a0002c0002t0013	a0001c0001t0001g0019 a0001c0003t0002g0133 a0001c0004t0082g0129 others(2): Show a0001c0001t0001g0019 a0001c0003t0002g0133 a0001c0004t0082g0129 a0001c0004t0085g0128 a0002c0002t0013g0099	5	134	0.0373	-46	c.-80 others(67): Show c.-801+93605_-801+93650delCTCTCTCTCTCTCTCTCTCTCTCT ATATATATATATATATATATAT	HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	1/8			chr1	TogoVar
HIVEP3_chr1_41501365_41923922	41824764	TATATATA others(39): Show TATATATATATATATATATATAGAGAGAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00621.hp2 others(3): Show HG00408.hp1 HG00408.hp2 HG00621.hp2 HG00673.hp2 HG01255.hp2 HG03239.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0018 a0001c0001t0077 others(3): Show a0001c0001t0001 a0001c0001t0018 a0001c0001t0077 a0002c0002t0011 a0002c0002t0013 a0002c0002t0026	a0001c0001t0001g0109 a0001c0001t0018g0130 a0001c0001t0077g0131 others(3): Show a0001c0001t0001g0109 a0001c0001t0018g0130 a0001c0001t0077g0131 a0002c0002t0011g0121 a0002c0002t0013g0115 a0002c0002t0026g0100	6	134	0.0448	-46	c.-80 others(67): Show c.-801+93603_-801+93648delCTCTCTCTCTCTCTCTCTCTCTCT CTATATATATATATATATATAT	HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	1/8			chr1	TogoVar
HIVEP3_chr1_41501365_41923922	41824766	TATATATA others(39): Show TATATATATATATATATATAGAGAGAGAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	134	0.0075	-46	c.-80 others(67): Show c.-801+93601_-801+93646delCTCTCTCTCTCTCTCTCTCTCTCT CTCTATATATATATATATATAT	HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	1/8			chr1	TogoVar
HIVEP3_chr1_41501365_41923922	41824768	TATATATA others(39): Show TATATATATATATATATAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03239.hp1 HG02258.hp1 HG03239.hp1	a0001 a0005 a0001 a0005	a0001c0003 a0005c0005 a0001c0003 a0005c0005	a0001c0003t0002 a0005c0005t0020 a0001c0003t0002 a0005c0005t0020	a0001c0003t0002g0009 a0005c0005t0020g0001 a0001c0003t0002g0009 a0005c0005t0020g0001	2	134	0.0149	-46	c.-80 others(67): Show c.-801+93599_-801+93644delCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTATATATATATATATAT	HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	1/8			chr1	TogoVar
HIVEP3_chr1_41501365_41923922	41824770	TATATATA others(39): Show TATATATATATATATAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0126 a0002c0002t0002g0126	1	134	0.0075	-46	c.-80 others(67): Show c.-801+93597_-801+93642delCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTATATATATATATAT	HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	1/8			chr1	TogoVar
HLA-DRB1_chr6_32573775_32594848	32579657	GATTGGCC others(39): Show GATTGGCCCATTTTAAAAGTGCTGATTGGTCCATTTTAAAGAGTGCT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(128): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp2 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02698.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03139.hp2 HG03225.hp1 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03654.hp1 HG03654.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18955.hp1 NA18968.hp2 NA18969.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18984.hp2 NA18988.hp2 NA18989.hp2 NA18992.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA19002.hp1 NA19004.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19009.hp2 NA19030.hp1 NA19030.hp2 NA19055.hp2 NA19056.hp1 NA19060.hp1 NA19060.hp2 NA19065.hp2 NA19074.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19089.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1	a0002 a0003 a0005 others(20): Show a0002 a0003 a0005 a0006 a0007 a0011 a0012 a0014 a0015 a0017 a0018 a0019 a0021 a0022 a0023 a0024 a0025 a0027 a0028 a0029 a0030 a0031 a0032	a0002c0003 a0003c0002 a0005c0008 others(21): Show a0002c0003 a0003c0002 a0005c0008 a0005c0010 a0006c0005 a0007c0006 a0011c0012 a0012c0013 a0014c0015 a0015c0016 a0017c0019 a0018c0018 a0019c0020 a0021c0023 a0022c0022 a0023c0024 a0024c0027 a0025c0026 a0027c0030 a0028c0031 a0029c0032 a0030c0035 a0031c0034 a0032c0033	a0002c0003t0002 a0003c0002t0005 a0005c0008t0006 others(22): Show a0002c0003t0002 a0003c0002t0005 a0005c0008t0006 a0005c0010t0009 a0006c0005t0002 a0007c0006t0003 a0011c0012t0003 a0012c0013t0011 a0014c0015t0008 a0015c0016t0010 a0015c0016t0012 a0017c0019t0003 a0018c0018t0008 a0019c0020t0010 a0021c0023t0006 a0022c0022t0012 a0023c0024t0010 a0024c0027t0006 a0025c0026t0006 a0027c0030t0011 a0028c0031t0003 a0029c0032t0003 a0030c0035t0009 a0031c0034t0006 a0032c0033t0011	a0002c0003t0002g0008 a0002c0003t0002g0020 a0002c0003t0002g0021 others(76): Show a0002c0003t0002g0008 a0002c0003t0002g0020 a0002c0003t0002g0021 a0002c0003t0002g0022 a0002c0003t0002g0023 a0002c0003t0002g0044 a0002c0003t0002g0045 a0002c0003t0002g0046 a0002c0003t0002g0047 a0002c0003t0002g0048 a0002c0003t0002g0049 a0003c0002t0005g0005 a0003c0002t0005g0010 a0003c0002t0005g0014 a0003c0002t0005g0077 a0003c0002t0005g0078 a0003c0002t0005g0079 a0005c0008t0006g0024 a0005c0008t0006g0025 a0005c0008t0006g0026 a0005c0008t0006g0054 a0005c0008t0006g0056 a0005c0008t0006g0057 a0005c0010t0009g0027 a0005c0010t0009g0061 a0005c0010t0009g0062 a0005c0010t0009g0063 a0005c0010t0009g0064 a0005c0010t0009g0065 a0005c0010t0009g0075 a0006c0005t0002g0006 a0006c0005t0002g0016 a0006c0005t0002g0034 a0006c0005t0002g0035 a0006c0005t0002g0043 a0007c0006t0003g0007 a0007c0006t0003g0018 a0007c0006t0003g0051 a0007c0006t0003g0053 a0011c0012t0003g0009 a0011c0012t0003g0076 a0012c0013t0011g0082 a0012c0013t0011g0083 a0012c0013t0011g0085 a0012c0013t0011g0086 a0012c0013t0011g0087 a0012c0013t0011g0088 a0014c0015t0008g0028 a0014c0015t0008g0066 a0014c0015t0008g0067 a0014c0015t0008g0068 a0015c0016t0010g0080 a0015c0016t0012g0015 a0017c0019t0003g0017 a0017c0019t0003g0052 a0018c0018t0008g0039 a0018c0018t0008g0040 a0018c0018t0008g0041 a0018c0018t0008g0042 a0019c0020t0010g0030 a0019c0020t0010g0031 a0021c0023t0006g0071 a0021c0023t0006g0072 a0021c0023t0006g0073 a0022c0022t0012g0036 a0022c0022t0012g0037 a0022c0022t0012g0038 a0023c0024t0010g0029 a0023c0024t0010g0081 a0024c0027t0006g0058 a0024c0027t0006g0059 a0025c0026t0006g0069 a0025c0026t0006g0070 a0027c0030t0011g0089 a0028c0031t0003g0050 a0029c0032t0003g0074 a0030c0035t0009g0060 a0031c0034t0006g0055 a0032c0033t0011g0084	131	208	0.6298	-46	c.787 others(61): Show c.787+544_788-554delAGCACTCTTTAAAATGGACCAATCAGCACT TTTAAAATGGGCCAAT	HLA-DRB1	ENSG00000196126.12	transcript	ENST00000360004.6	protein_coding	5/5			chr6	TogoVar
HLCS_chr21_36743626_36971669	36948553	AACCCCAT others(39): Show AACCCCATCTCTACTAAAAACAAAAGACTAGCTGGGTGTGGTGGCAC	A A	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02486.hp1 HG01175.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0045 a0001c0001t0004g0138 a0001c0001t0004g0045 a0001c0001t0004g0138	2	258	0.0078	-46	c.331 others(63): Show c.331-9605_331-9560delGTGCCACCACACCCAGCTAGTCTTTTGT TTTTAGTAGAGATGGGGT	HLCS	ENSG00000159267.17	transcript	ENST00000674895.3	protein_coding	2/10			chr21	TogoVar
HMOX1_chr22_35376096_35399207	35383951	AAGAGCTT others(39): Show AAGAGCTTGTTCAGGTTGAACAGAGGGTGTGGGGGTGGGGAGTAGGG	A A	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	384	0.0026	-46	c.144 others(61): Show c.144+728_144+773delAGCTTGTTCAGGTTGAACAGAGGGTGTGGG GGTGGGGAGTAGGGAG	HMOX1	ENSG00000100292.18	transcript	ENST00000216117.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr22	TogoVar
HNRNPC_chr14_21204147_21274442	21250469	CAAGGTAT others(39): Show CAAGGTATTTTGAATGTTAATCTCAGCTTTCATAACCAAGAATGGTT	C C	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0279 a0001c0001t0001g0279	1	388	0.0026	-46	c.-37 others(65): Show c.-37+12796_-37+12841delAACCATTCTTGGTTATGAAAGCTGAG ATTAACATTCAAAATACCTT	HNRNPC	ENSG00000092199.19	transcript	ENST00000553300.6	protein_coding	2/8			chr14	TogoVar
HOMER1_chr5_79367636_79519134	79379359	AATATTTA others(39): Show AATATTTATATATATTTATATATTTTATATATTATATAAATATTTAT	A A	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02896.hp1 HG02897.hp1 others(2): Show HG02723.hp2 HG02896.hp1 HG02897.hp1 HG03516.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0006 a0001c0001t0012 others(1): Show a0001c0001t0005 a0001c0001t0006 a0001c0001t0012 a0001c0001t0031	a0001c0001t0005g0146 a0001c0001t0006g0005 a0001c0001t0012g0002 others(2): Show a0001c0001t0005g0146 a0001c0001t0006g0005 a0001c0001t0012g0002 a0001c0001t0012g0004 a0001c0001t0031g0080	5	290	0.0172	-46	c.877 others(63): Show c.877-3208_877-3163delATAAATATTTATATAATATATAAAATAT ATAAATATATATAAATAT	HOMER1	ENSG00000152413.15	transcript	ENST00000334082.11	protein_coding	8/8			chr5	TogoVar
HPSE2_chr10_98452077_99240852	99132191	AAGAGAGA others(39): Show AAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00597.hp2 HG01981.hp1 others(8): Show HG00423.hp1 HG00597.hp2 HG01981.hp1 HG02723.hp1 HG03490.hp1 NA18939.hp1 NA18944.hp1 NA18974.hp1 NA18979.hp1 NA19009.hp2 NA19083.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0008 a0001c0001t0017 others(3): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0017 a0002c0002t0002 a0002c0002t0013 a0002c0002t0018	a0001c0001t0001g0034 a0001c0001t0001g0039 a0001c0001t0001g0055 others(8): Show a0001c0001t0001g0034 a0001c0001t0001g0039 a0001c0001t0001g0055 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0086 a0001c0001t0008g0004 a0001c0001t0017g0054 a0002c0002t0002g0047 a0002c0002t0013g0046 a0002c0002t0018g0044	11	142	0.0775	-46	c.610 others(65): Show c.610+12001_610+12046delCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCTCT	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	3/11			chr10	TogoVar
HRCT1_chr9_35901202_35912136	35911553	TTCAGTTT others(39): Show TTCAGTTTTTATTAACAGAAAACCCATTCTCCCATGGCCATGGAATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	430	0.0023	-46	c.49 others(57): Show c.4919_*4964delTCAGTTTTTATTAACAGAAAACCCATTCTCCCAT GGCCATGGAATA	HRCT1	ENSG00000196196.3	transcript	ENST00000354323.3	protein_coding		4418		chr9	TogoVar
HRC_chr19_49146198_49160396	49156529	ATCTCTGT others(39): Show ATCTCTGTCCCCCTCTCTCTGGGTCTCTGTTCCCCTCTCTCTGTGGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	406	0.0025	-46	c.-13 others(57): Show c.-1338_-1293delCCCACAGAGAGAGGGGAACAGAGACCCAGAGAGA GGGGGACAGAGA	HRC	ENSG00000130528.12	transcript	ENST00000252825.9	protein_coding		1134		chr19	TogoVar
HRC_chr19_49146198_49160396	49156690	GGTCTCTG others(39): Show GGTCTCTGTCCCCCTCTCTCAGGGTCTCTGTCCCCCTCTGTCTCAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG00735.hp2 HG01070.hp2 others(12): Show HG00733.hp2 HG00735.hp2 HG01070.hp2 HG01071.hp1 HG01099.hp1 HG01884.hp1 HG02145.hp1 HG02257.hp2 HG02809.hp1 HG02896.hp1 HG03130.hp2 HG03195.hp2 HG03516.hp1 NA18522.hp2 NA20300.hp2	a0001 a0006 a0015 others(2): Show a0001 a0006 a0015 a0027 a0039	a0001c0001 a0001c0026 a0006c0007 others(3): Show a0001c0001 a0001c0026 a0006c0007 a0015c0055 a0027c0054 a0039c0052	a0001c0001t0001 a0001c0026t0001 a0006c0007t0001 others(3): Show a0001c0001t0001 a0001c0026t0001 a0006c0007t0001 a0015c0055t0001 a0027c0054t0001 a0039c0052t0001	a0001c0001t0001g0010 a0001c0026t0001g0075 a0006c0007t0001g0006 others(3): Show a0001c0001t0001g0010 a0001c0026t0001g0075 a0006c0007t0001g0006 a0015c0055t0001g0080 a0027c0054t0001g0079 a0039c0052t0001g0077	15	406	0.0370	-46	c.-14 others(57): Show c.-1499_-1454delTCTGAGACAGAGGGGGACAGAGACCCTGAGAGAG GGGGACAGAGAC	HRC	ENSG00000130528.12	transcript	ENST00000252825.9	protein_coding		1295		chr19	TogoVar
HS3ST4_chr16_25686959_26142685	25857876	CTCTTTCT others(39): Show CTCTTTCTTTCTTTCTTTTTCTTTCTTCCTTCCTTCCTTCCTTCCTT	C C	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0024 a0001c0001t0032g0024	1	164	0.0061	-46	c.734 others(67): Show c.734+164743_734+164788delTTCTTTCTTCCTTCCTTCCTTCCT TCCTTTCTTTCTTTCTTTCTTT	HS3ST4	ENSG00000182601.7	transcript	ENST00000331351.6	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr16	TogoVar
HSD17B11_chr4_87331515_87396188	87378883	TATATATA others(39): Show TATATATATATAAATATATATAAATATATATATATAAATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0142 a0001c0001t0003g0142	1	390	0.0026	-46	c.318 others(63): Show c.318+3326_318+3371delTTATATATATTTATATATATATATTTAT ATATATTTATATATATAT	HSD17B11	ENSG00000198189.11	transcript	ENST00000358290.9	protein_coding	2/6			chr4	TogoVar
HSD17B7_chr1_162785702_162817823	162793884	GGTATTTT others(39): Show GGTATTTTTTTTCCCTAGGCCAGTAAAGATTTGTTCACACCTTCACA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02615.hp2 HG02922.hp2 others(2): Show HG01891.hp2 HG02615.hp2 HG02922.hp2 HG03130.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0183 a0001c0001t0002g0185 a0001c0001t0002g0186 others(2): Show a0001c0001t0002g0183 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0189 a0001c0001t0002g0190	5	420	0.0119	-46	c.239 others(63): Show c.239+1026_239+1071delTTTTTTTTCCCTAGGCCAGTAAAGATTT GTTCACACCTTCACAGTA	HSD17B7	ENSG00000132196.16	transcript	ENST00000254521.8	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
HSD3B2_chr1_119410150_119428034	119421395	ATATATAT others(39): Show ATATATATGTATATATATATATGTATATATATGTATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0089 a0001c0002t0001g0089	1	442	0.0023	-46	c.308 others(61): Show c.308-406_308-361delGTATATATATATATGTATATATATGTATAT ATATATATGTATATAT	HSD3B2	ENSG00000203859.10	transcript	ENST00000369416.4	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
HSD3B2_chr1_119410150_119428034	119421407	ATATATAT others(39): Show ATATATATATGTATATATATGTATATATATATATGTATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02145.hp1 HG02257.hp1 others(12): Show HG02109.hp1 HG02145.hp1 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02486.hp2 HG02717.hp2 HG02976.hp2 HG03098.hp2 HG03195.hp1 HG03195.hp2 HG03471.hp2 NA18522.hp2 NA18941.hp2 NA21309.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0005 a0002c0003 others(1): Show a0001c0001 a0001c0005 a0002c0003 a0006c0006	a0001c0001t0003 a0001c0001t0004 a0001c0005t0003 others(2): Show a0001c0001t0003 a0001c0001t0004 a0001c0005t0003 a0002c0003t0003 a0006c0006t0003	a0001c0001t0003g0030 a0001c0001t0004g0018 a0001c0001t0004g0036 others(5): Show a0001c0001t0003g0030 a0001c0001t0004g0018 a0001c0001t0004g0036 a0001c0005t0003g0055 a0002c0003t0003g0041 a0002c0003t0003g0068 a0002c0003t0003g0069 a0006c0006t0003g0061	15	442	0.0339	-46	c.308 others(61): Show c.308-392_308-347delGTATATATATGTATATATATATATGTATAT ATATATGTATATATAT	HSD3B2	ENSG00000203859.10	transcript	ENST00000369416.4	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
HSD3B2_chr1_119410150_119428034	119421419	ATATATAT others(39): Show ATATATATGTATATATATATATGTATATATATATGTATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp2 others(138): Show HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp2 HG00558.hp1 HG00597.hp2 HG00621.hp2 HG00642.hp1 HG00673.hp2 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01169.hp1 HG01192.hp1 HG01255.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01358.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01891.hp2 HG01928.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02071.hp2 HG02080.hp1 HG02083.hp2 HG02132.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02300.hp1 HG02523.hp1 HG02559.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02965.hp2 HG03041.hp2 HG03098.hp1 HG03453.hp1 HG03486.hp1 HG03491.hp1 HG03492.hp1 HG03540.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03942.hp1 HG04199.hp1 HG04204.hp2 HG06807.hp1 NA18612.hp1 NA18906.hp2 NA18943.hp1 NA18944.hp2 NA18949.hp1 NA18954.hp1 NA18955.hp2 NA18956.hp1 NA18957.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp2 NA18965.hp1 NA18966.hp1 NA18967.hp2 NA18968.hp2 NA18970.hp2 NA18971.hp2 NA18972.hp1 NA18973.hp2 NA18974.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18984.hp2 NA18985.hp2 NA18994.hp2 NA18995.hp2 NA18999.hp2 NA19001.hp2 NA19003.hp2 NA19004.hp1 NA19009.hp1 NA19010.hp1 NA19030.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19058.hp1 NA19062.hp1 NA19063.hp2 NA19064.hp1 NA19070.hp1 NA19075.hp2 NA19080.hp2 NA19081.hp2 NA19084.hp2 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA20300.hp2 NA20805.hp2 NA20905.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0003c0004 a0005c0007	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0005t0001 a0003c0004t0003 a0005c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0015 others(18): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0033 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0070 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0003g0039 a0001c0002t0001g0034 a0001c0002t0001g0067 a0001c0002t0001g0088 a0001c0002t0001g0090 a0001c0005t0001g0001 a0003c0004t0003g0038 a0005c0007t0001g0001	141	442	0.3190	-46	c.308 others(61): Show c.308-382_308-337delGTATATATATATATGTATATATATATGTAT ATATATATGTATATAT	HSD3B2	ENSG00000203859.10	transcript	ENST00000369416.4	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
HSDL2_chr9_112375108_112477405	112473338	ATTGGCAG others(39): Show ATTGGCAGATTCAATTTTCTTATAAACTAGTTGCTTAAACTTTTCAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	366	0.0027	-46	c.27 others(57): Show c.2795_*2840delTTGGCAGATTCAATTTTCTTATAAACTAGTTGCT TAAACTTTTCAT	HSDL2	ENSG00000119471.15	transcript	ENST00000398805.8	protein_coding		934		chr9	TogoVar
HSPA12B_chr20_3727685_3758111	3729477	TTGTGTGT others(39): Show TTGTGTGTGCATGAGTGTGTGGGTGCATGCATGTGTGTGCATGCAAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG02886.hp1 NA18522.hp1 HG02559.hp2 HG02886.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075	3	424	0.0071	-46	c.-33 others(57): Show c.-3334_-3289delTGTGTGTGCATGAGTGTGTGGGTGCATGCATGTG TGTGCATGCAAG	HSPA12B	ENSG00000132622.11	transcript	ENST00000254963.7	protein_coding		3207		chr20	TogoVar
HTR2C_chrX_114579086_114915061	114694434	AATATATA others(39): Show AATATATATATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(129): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00733.hp1 HG00738.hp1 HG01069.hp1 HG01099.hp1 HG01167.hp1 HG01168.hp1 HG01192.hp1 HG01255.hp1 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01358.hp1 HG01433.hp1 HG01515.hp1 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02257.hp1 HG02300.hp2 HG02559.hp1 HG02602.hp1 HG02615.hp1 HG02630.hp1 HG02647.hp1 HG02698.hp1 HG02717.hp1 HG02735.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02965.hp1 HG02970.hp1 HG03017.hp1 HG03139.hp1 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp1 HG03516.hp1 HG03579.hp1 HG03654.hp1 HG03688.hp1 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03942.hp1 HG04199.hp1 HG04204.hp1 HG04228.hp1 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18940.hp1 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18948.hp1 NA18952.hp1 NA18953.hp1 NA18955.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18966.hp1 NA18970.hp1 NA18977.hp1 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18986.hp1 NA18989.hp1 NA18990.hp1 NA18994.hp1 NA18995.hp1 NA19000.hp1 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19055.hp1 NA19056.hp1 NA19058.hp1 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19066.hp1 NA19068.hp1 NA19070.hp1 NA19076.hp1 NA19079.hp1 NA19081.hp1 NA19082.hp1 NA19083.hp1 NA19085.hp1 NA19086.hp1 NA19088.hp1 NA19089.hp1 NA19091.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0002c0002t0002 a0002c0002t0014	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0059 others(129): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0049 a0001c0001t0002g0052 a0001c0001t0003g0072 a0001c0001t0003g0073 a0001c0001t0003g0086 a0001c0001t0003g0087 a0001c0001t0006g0018 a0001c0001t0006g0019 a0001c0001t0006g0021 a0001c0001t0009g0020 a0001c0001t0013g0105 a0001c0001t0015g0077 a0001c0001t0016g0121 a0001c0001t0017g0112 a0001c0001t0018g0076 a0001c0001t0019g0137 a0002c0002t0002g0008 a0002c0002t0002g0009 a0002c0002t0002g0011 a0002c0002t0002g0027 a0002c0002t0014g0140	132	176	0.7500	-46	c.-79 others(65): Show c.-79-32410_-79-32365delTATATATATATATATATATATATATA TATATATATATATATATATA	HTR2C	ENSG00000147246.10	transcript	ENST00000276198.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chrX	TogoVar
HTRA3_chr4_8264754_8312098	8264820	GTGGCCAG others(39): Show GTGGCCAGGTAGCATGGGACGGGGTGGGCTGGAAATGGAGGCCCACA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0256 a0001c0001t0001g0256	1	388	0.0026	-46	c.-51 others(57): Show c.-5148_-5103delTGGCCAGGTAGCATGGGACGGGGTGGGCTGGAAA TGGAGGCCCACA	HTRA3	ENSG00000170801.10	transcript	ENST00000307358.7	protein_coding		4933		chr4	TogoVar
HUS1_chr7_47958288_47984615	47972695	TCCCCATT others(39): Show TCCCCATTTGGGGTAGTATCCAGCACTAGGGTACTCACTGCACAGCG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00323.hp2 others(156): Show HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00408.hp2 HG00597.hp2 HG00639.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp2 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01168.hp1 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01258.hp2 HG01346.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01517.hp1 HG01884.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02257.hp2 HG02258.hp2 HG02293.hp1 HG02300.hp1 HG02451.hp1 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02602.hp1 HG02630.hp2 HG02698.hp1 HG02723.hp1 HG02738.hp2 HG02818.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03492.hp1 HG03540.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp2 NA18522.hp2 NA18612.hp1 NA18747.hp2 NA18940.hp1 NA18942.hp2 NA18944.hp2 NA18945.hp1 NA18946.hp2 NA18947.hp1 NA18950.hp2 NA18951.hp2 NA18954.hp2 NA18956.hp1 NA18957.hp1 NA18957.hp2 NA18962.hp1 NA18963.hp1 NA18966.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp2 NA18971.hp2 NA18972.hp2 NA18977.hp2 NA18979.hp2 NA18980.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18988.hp2 NA18989.hp2 NA18990.hp2 NA18991.hp2 NA18992.hp2 NA18994.hp2 NA18995.hp2 NA19000.hp2 NA19002.hp1 NA19006.hp2 NA19007.hp1 NA19009.hp1 NA19010.hp2 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19055.hp2 NA19057.hp2 NA19060.hp1 NA19065.hp1 NA19066.hp2 NA19067.hp1 NA19068.hp2 NA19070.hp2 NA19072.hp2 NA19075.hp1 NA19076.hp2 NA19077.hp1 NA19080.hp2 NA19081.hp1 NA19085.hp1 NA19086.hp1 NA19088.hp1 NA20129.hp1 NA20805.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0007 a0001c0002 a0003c0007	a0001c0002t0002 a0001c0002t0008 a0001c0002t0010 others(4): Show a0001c0002t0002 a0001c0002t0008 a0001c0002t0010 a0001c0002t0017 a0001c0002t0018 a0001c0002t0019 a0003c0007t0002	a0001c0002t0002g0001 a0001c0002t0002g0009 a0001c0002t0002g0013 others(44): Show a0001c0002t0002g0001 a0001c0002t0002g0009 a0001c0002t0002g0013 a0001c0002t0002g0014 a0001c0002t0002g0018 a0001c0002t0002g0022 a0001c0002t0002g0026 a0001c0002t0002g0027 a0001c0002t0002g0085 a0001c0002t0002g0086 a0001c0002t0002g0087 a0001c0002t0002g0088 a0001c0002t0002g0089 a0001c0002t0002g0090 a0001c0002t0002g0091 a0001c0002t0002g0092 a0001c0002t0002g0093 a0001c0002t0002g0094 a0001c0002t0002g0095 a0001c0002t0002g0097 a0001c0002t0002g0098 a0001c0002t0002g0099 a0001c0002t0002g0101 a0001c0002t0002g0105 a0001c0002t0002g0106 a0001c0002t0002g0107 a0001c0002t0002g0108 a0001c0002t0002g0109 a0001c0002t0002g0110 a0001c0002t0002g0111 a0001c0002t0002g0112 a0001c0002t0002g0113 a0001c0002t0002g0114 a0001c0002t0002g0115 a0001c0002t0002g0116 a0001c0002t0002g0117 a0001c0002t0002g0118 a0001c0002t0002g0119 a0001c0002t0002g0120 a0001c0002t0002g0121 a0001c0002t0008g0028 a0001c0002t0010g0096 a0001c0002t0010g0103 a0001c0002t0017g0102 a0001c0002t0018g0104 a0001c0002t0019g0100 a0003c0007t0002g0122	159	410	0.3878	-46	c.540 others(63): Show c.540+2872_540+2917delCGCTGTGCAGTGAGTACCCTAGTGCTGG ATACTACCCCAAATGGGG	HUS1	ENSG00000136273.13	transcript	ENST00000258774.10	protein_coding	5/7			chr7	TogoVar
IFNAR2_chr21_33224938_33270664	33257533	CTGCTGAT others(39): Show CTGCTGATTGGTGCATTTTACAGAGCGCTGATTGGTGCGTTTTAGAG	C C	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01934.hp1 HG02970.hp1 others(2): Show HG01515.hp1 HG01934.hp1 HG02970.hp1 NA18974.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0044 a0001c0001t0003 a0001c0001t0044	a0001c0001t0003g0185 a0001c0001t0003g0186 a0001c0001t0003g0190 others(2): Show a0001c0001t0003g0185 a0001c0001t0003g0186 a0001c0001t0003g0190 a0001c0001t0003g0267 a0001c0001t0044g0261	5	424	0.0118	-46	c.710 others(63): Show c.710-3050_710-3005delATTTTACAGAGCGCTGATTGGTGCGTTT TAGAGTGCTGATTGGTGC	IFNAR2	ENSG00000159110.22	transcript	ENST00000342136.9	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr21	TogoVar
IFNLR1_chr1_24149168_24192289	24162732	CTTTCTTT others(39): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00741.hp2 HG01169.hp1 others(9): Show HG00140.hp2 HG00741.hp2 HG01169.hp1 HG01255.hp2 HG01257.hp2 HG01261.hp2 HG01891.hp1 HG03017.hp1 HG03654.hp1 HG03834.hp2 HG04184.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0004 a0001c0002t0013 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0013 a0001c0003t0019	a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0145 others(9): Show a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0151 a0001c0001t0001g0275 a0001c0001t0004g0053 a0001c0001t0004g0077 a0001c0001t0004g0098 a0001c0002t0013g0369 a0001c0003t0019g0359	12	396	0.0303	-46	c.368 others(63): Show c.368-1094_368-1049delAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAA	IFNLR1	ENSG00000185436.12	transcript	ENST00000327535.6	protein_coding	3/6			chr1	TogoVar
IFT140_chr16_1505427_1617072	1507811	GGTGTGTG others(39): Show GGTGTGTGTGTGTGTGTGTGTGATGTGTGTTGGCCCGGGGTGTGTGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02976.hp2 HG02257.hp1 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0045 a0001c0001 a0001c0045	a0001c0001t0002 a0001c0045t0002 a0001c0001t0002 a0001c0045t0002	a0001c0001t0002g0301 a0001c0045t0002g0176 a0001c0001t0002g0301 a0001c0045t0002g0176	2	334	0.0060	-46	c.30 others(57): Show c.3087_*3132delACACACACCCCGGGCCAACACACATCACACACAC ACACACACACAC	IFT140	ENSG00000187535.14	transcript	ENST00000426508.7	protein_coding		2615		chr16	TogoVar
IFT80_chr3_160251986_160404225	160312622	TATATATA others(39): Show TATATATATATAATAAATATATATTATATATAAATATATAATATATA	T T	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	212	0.0047	-46	c.958 others(63): Show c.958-4887_958-4842delTATATATTATATATTTATATATAATATA TATTTATTATATATATAT	IFT80	ENSG00000068885.15	transcript	ENST00000326448.12	protein_coding	9/19			chr3	TogoVar
IFT80_chr3_160251986_160404225	160312705	AATATATA others(39): Show AATATATAATATATATAATAAATATATATTATATATAAATATATAAT	A A	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG02965.hp1 HG01069.hp2 HG02965.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0048 a0002c0002t0002g0082 a0002c0002t0002g0048 a0002c0002t0002g0082	2	212	0.0094	-46	c.958 others(63): Show c.958-4970_958-4925delATTATATATTTATATATAATATATATTT ATTATATATATTATATAT	IFT80	ENSG00000068885.15	transcript	ENST00000326448.12	protein_coding	9/19			chr3	TogoVar
IGF2BP1_chr17_48992385_49061145	49019936	ATATATAT others(39): Show ATATATATATATATTTATATACACACACACACACACACACATACACC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG02559.hp2 HG00140.hp1 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0155 a0001c0001t0005g0312 a0001c0001t0005g0155 a0001c0001t0005g0312	2	318	0.0063	-46	c.237 others(63): Show c.237-5681_237-5636delTATATATATATATTTATATACACACACA CACACACACACATACACC	IGF2BP1	ENSG00000159217.10	transcript	ENST00000290341.8	protein_coding	2/14			chr17	TogoVar
IGF2BP1_chr17_48992385_49061145	49019937	TATATATA others(39): Show TATATATATATATTTATATACACACACACACACACACACATACACCC	T T	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp2 NA18946.hp2 others(1): Show HG01257.hp2 HG01258.hp2 NA18946.hp2 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0005 a0001c0001t0060 a0001c0003t0028 a0001c0001t0005 a0001c0001t0060 a0001c0003t0028	a0001c0001t0005g0309 a0001c0001t0005g0310 a0001c0001t0060g0111 others(1): Show a0001c0001t0005g0309 a0001c0001t0005g0310 a0001c0001t0060g0111 a0001c0003t0028g0156	4	318	0.0126	-46	c.237 others(63): Show c.237-5679_237-5634delTATATATATATTTATATACACACACACA CACACACACATACACCCA	IGF2BP1	ENSG00000159217.10	transcript	ENST00000290341.8	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr17	TogoVar

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