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
H1-8_chr3_129538175_129556467	129540493	TATATATA others(16): Show TATATATATATATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 NA18968.hp1 HG02723.hp2 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0079 a0001c0001t0001g0027 a0001c0001t0001g0079	2	422	0.0047	-23	c.-27 others(34): Show c.-2725_-2703delATATATATATATATATATATATA	H1-8	ENSG00000178804.8	transcript	ENST00000324382.7	protein_coding		2681		chr3	TogoVar
H1-8_chr3_129538175_129556467	129540495	TATATATA others(16): Show TATATATATATATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02896.hp2 HG02922.hp2 others(4): Show HG02622.hp2 HG02896.hp2 HG02922.hp2 HG02965.hp2 HG03486.hp2 NA18942.hp2 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0037 others(3): Show a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0037 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0003g0001	7	422	0.0166	-23	c.-27 others(34): Show c.-2723_-2701delATATATATATATATATATATATA	H1-8	ENSG00000178804.8	transcript	ENST00000324382.7	protein_coding		2679		chr3	TogoVar
H1-8_chr3_129538175_129556467	129540497	TATATATA others(16): Show TATATATATATATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 NA19063.hp1 HG02486.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0080 a0001c0001t0001g0001 a0001c0001t0001g0080	2	422	0.0047	-23	c.-27 others(34): Show c.-2721_-2699delATATATATATATATATATATATA	H1-8	ENSG00000178804.8	transcript	ENST00000324382.7	protein_coding		2677		chr3	TogoVar
H2AC4_chr6_26028092_26038618	26031155	TATATATA others(16): Show TATATATATATATATATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG01081.hp2 HG02451.hp2 others(8): Show HG00642.hp1 HG01081.hp2 HG02451.hp2 HG02572.hp2 HG02615.hp2 HG02818.hp1 HG02896.hp1 HG03130.hp1 HG03209.hp2 HG03579.hp1 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0000 a0001c0002t0001g0000	11	406	0.0271	-23	c.19 others(34): Show c.1998_*2020delTATATATATATATATATATATAT	H2AC4	ENSG00000278463.2	transcript	ENST00000615868.2	protein_coding		1936		chr6	TogoVar
H3-3B_chr17_75771434_75784779	75784188	TGGCAAAG others(16): Show TGGCAAAGGTAAATGAAGCGCCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp1 HG01952.hp2 NA18985.hp1 others(1): Show HG01175.hp1 HG01952.hp2 NA18985.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0009 a0001c0001t0008g0009	4	432	0.0093	-23	c.-45 others(34): Show c.-4565_-4543delGAGGCGCTTCATTTACCTTTGCC	H3-3B	ENSG00000132475.10	transcript	ENST00000254810.8	protein_coding		4410		chr17	TogoVar
H3C2_chr6_26026589_26037099	26031155	TATATATA others(16): Show TATATATATATATATATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG01081.hp2 HG02451.hp2 others(8): Show HG00642.hp1 HG01081.hp2 HG02451.hp2 HG02572.hp2 HG02615.hp2 HG02818.hp1 HG02896.hp1 HG03130.hp1 HG03209.hp2 HG03579.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 a0001c0001t0001 a0001c0001t0004 a0001c0002t0001	a0001c0001t0001g0000 a0001c0001t0004g0000 a0001c0002t0001g0000 a0001c0001t0001g0000 a0001c0001t0004g0000 a0001c0002t0001g0000	11	396	0.0278	-23	c.47 others(32): Show c.472_*494delTATATATATATATATATATATAT	H3C2	ENSG00000286522.2	transcript	ENST00000621411.3	protein_coding		433		chr6	TogoVar
H4C14_chr1_149827657_149838052	149832109	AGCCTGGA others(16): Show AGCCTGGAGCCAGGAATTATGGCG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	236	0.0042	-23	c.-57 others(32): Show c.-575_-553delGCCTGGAGCCAGGAATTATGGCG	H4C14	ENSG00000270882.3	transcript	ENST00000578186.3	protein_coding		547		chr1	TogoVar
H4C15_chr1_149855764_149866159	149865943	AAAAAAAA others(16): Show AAAAAAAAGAAAGAAGAAAGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	206	0.0049	-23	c.-48 others(34): Show c.-4835_-4813delCTTTCTTTCTTCTTTCTTTTTTT	H4C15	ENSG00000270276.3	transcript	ENST00000579512.3	protein_coding		4785		chr1	TogoVar
H4C15_chr1_149855764_149866159	149865947	AAAAGAAA others(16): Show AAAAGAAAGAAGAAAGAAAGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	206	0.0049	-23	c.-48 others(34): Show c.-4839_-4817delCTTTCTTTCTTTCTTCTTTCTTT	H4C15	ENSG00000270276.3	transcript	ENST00000579512.3	protein_coding		4789		chr1	TogoVar
H4C2_chr6_26021896_26032283	26031155	TATATATA others(16): Show TATATATATATATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG01081.hp1 HG02451.hp2 others(8): Show HG00642.hp2 HG01081.hp1 HG02451.hp2 HG02572.hp2 HG02615.hp2 HG02818.hp1 HG02896.hp2 HG03130.hp1 HG03209.hp2 HG03579.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0001t0001 a0001c0006t0001	a0001c0001t0001g0000 a0001c0006t0001g0000 a0001c0001t0001g0000 a0001c0006t0001g0000	11	400	0.0275	-23	c.-39 others(34): Show c.-3926_-3904delTATATATATATATATATATATAT	H4C2	ENSG00000278705.3	transcript	ENST00000377745.5	protein_coding		3873		chr6	TogoVar
HACD1_chr10_17584032_17622374	17584743	CGGAGGGA others(16): Show CGGAGGGACCAAACAAACTCAAAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	410	0.0024	-23	c.55 others(34): Show c.5598_*5620delATTTGAGTTTGTTTGGTCCCTCC	HACD1	ENSG00000165996.14	transcript	ENST00000361271.8	protein_coding		4288		chr10	TogoVar
HACD3_chr15_65525463_65583349	65537947	AAAAAAAA others(16): Show AAAAAAAAAAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp2 NA19065.hp1 NA18995.hp1 NA18995.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101	3	328	0.0092	-23	c.87+ others(38): Show c.87+7231_87+7253delAAAAAAAAAAATATATATATATA	HACD3	ENSG00000074696.13	transcript	ENST00000261875.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
HACD3_chr15_65525463_65583349	65537949	AAAAAAAA others(16): Show AAAAAAAAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02886.hp2 HG03491.hp1 others(9): Show HG01123.hp1 HG02886.hp2 HG03491.hp1 HG03492.hp2 NA18950.hp2 NA18975.hp2 NA18977.hp2 NA18984.hp1 NA18984.hp2 NA18999.hp2 NA19058.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0016	a0001c0001t0001g0013 a0001c0001t0001g0075 a0001c0001t0001g0076 others(8): Show a0001c0001t0001g0013 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0191 a0001c0001t0001g0288 a0001c0001t0002g0197 a0001c0001t0008g0038 a0001c0001t0016g0117	12	328	0.0366	-23	c.87+ others(38): Show c.87+7233_87+7255delAAAAAAAAATATATATATATATA	HACD3	ENSG00000074696.13	transcript	ENST00000261875.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
HACD3_chr15_65525463_65583349	65537951	AAAAAAAA others(16): Show AAAAAAAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03195.hp1 HG03195.hp2 others(1): Show HG02451.hp1 HG03195.hp1 HG03195.hp2 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0112 a0001c0001t0002g0015 a0001c0001t0002g0231 a0001c0001t0001g0112 a0001c0001t0002g0015 a0001c0001t0002g0231	4	328	0.0122	-23	c.87+ others(38): Show c.87+7235_87+7257delAAAAAAATATATATATATATATA	HACD3	ENSG00000074696.13	transcript	ENST00000261875.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
HACE1_chr6_104723094_104864919	104831965	GAAGAGAA others(16): Show GAAGAGAAGAGAAGAGAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	346	0.0029	-23	c.534 others(40): Show c.534+1054_534+1076delTCCTTCCTCTCTTCTCTTCTCTT	HACE1	ENSG00000085382.12	transcript	ENST00000262903.9	protein_coding	6/23			chr6	TogoVar
HAGHL_chr16_722106_734715	726168	TCCCTGCC others(16): Show TCCCTGCCTGGCTGAGCTGTAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0014 a0001c0002t0013g0014	1	398	0.0025	-23	c.-13 others(34): Show c.-1341_-1319delCCCTGCCTGGCTGAGCTGTAAAA	HAGHL	ENSG00000103253.19	transcript	ENST00000389703.8	protein_coding		937		chr16	TogoVar
HAT1_chr2_171917461_171988686	171970496	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00558.hp2 HG00609.hp2 others(61): Show HG00099.hp2 HG00558.hp2 HG00609.hp2 HG00735.hp1 HG00738.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01123.hp1 HG01167.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp2 HG01257.hp1 HG01261.hp1 HG01433.hp2 HG01975.hp1 HG01978.hp2 HG02027.hp1 HG02056.hp1 HG02083.hp1 HG02165.hp2 HG02602.hp2 HG02683.hp1 HG02735.hp2 HG02738.hp1 HG02818.hp2 HG03017.hp1 HG03139.hp1 HG03209.hp2 HG03490.hp1 HG03492.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp1 HG03927.hp2 HG03942.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 NA18946.hp1 NA18949.hp1 NA18952.hp2 NA18953.hp2 NA18961.hp2 NA18971.hp1 NA18981.hp1 NA18985.hp1 NA18986.hp1 NA18994.hp2 NA18998.hp2 NA19003.hp1 NA19007.hp1 NA19007.hp2 NA19011.hp2 NA19068.hp2 NA19070.hp2 NA19077.hp2 NA19080.hp2 NA19081.hp1 NA19082.hp1 NA19083.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(61): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0320	64	326	0.1963	-23	c.823 others(40): Show c.823+3566_823+3588delTTTTTTTTTTTTTTTTTTTTTTT	HAT1	ENSG00000128708.13	transcript	ENST00000264108.5	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
HAUS7_chrX_153442668_153475576	153470771	AGGGCGGA others(16): Show AGGGCGGACACAGGGAAGGGGGCG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp1 HG01978.hp2 HG01978.hp1 HG01978.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0011 a0001c0001 a0007c0011	a0001c0001t0001 a0007c0011t0001 a0001c0001t0001 a0007c0011t0001	a0001c0001t0001g0003 a0007c0011t0001g0079 a0001c0001t0001g0003 a0007c0011t0001g0079	2	321	0.0062	-23	c.-23 others(32): Show c.-237_-215delCGCCCCCTTCCCTGTGTCCGCCC	HAUS7	ENSG00000213397.12	transcript	ENST00000370211.10	protein_coding		196		chrX	TogoVar
HAUS8_chr19_17044729_17080452	17055144	ATATATAT others(16): Show ATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02559.hp2 HG00738.hp1 HG02559.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0002c0001t0001 a0001c0002t0001 a0002c0001t0001	a0001c0002t0001g0028 a0002c0001t0001g0182 a0001c0002t0001g0028 a0002c0001t0001g0182	2	400	0.0050	-23	c.787 others(38): Show c.787+694_787+716delATATATATATATATATATATATA	HAUS8	ENSG00000131351.15	transcript	ENST00000253669.10	protein_coding	9/10			chr19	TogoVar
HAVCR1_chr5_157024413_157064116	157044607	GAAAGAAA others(16): Show GAAAGAAAGAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0329 a0003c0003t0001g0329	1	352	0.0028	-23	c.782 others(40): Show c.782-1948_782-1926delTCTTTCTTTCTTTCTCTTTCTTT	HAVCR1	ENSG00000113249.14	transcript	ENST00000523175.6	protein_coding	5/8			chr5	TogoVar
HBS1L_chr6_134955378_135059822	135035750	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0079 a0001c0015t0001g0079	1	348	0.0029	-23	c.430 others(40): Show c.430+3800_430+3822delTTTTTTTTTTTTTTTTTTTTTTT	HBS1L	ENSG00000112339.15	transcript	ENST00000367837.10	protein_coding	4/17			chr6	TogoVar
HCAR1_chr12_122721076_122735844	122734932	GAATCTGT others(16): Show GAATCTGTCTCAGAAAAAAAAAAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0000 a0001c0001t0007g0000	1	436	0.0023	-23	c.-46 others(34): Show c.-4616_-4594delTTTTTTTTTTTCTGAGACAGATT	HCAR1	ENSG00000196917.6	transcript	ENST00000432564.3	protein_coding		4089		chr12	TogoVar
HCK_chr20_32047242_32106856	32054475	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG02258.hp1 HG02809.hp2 others(3): Show HG01070.hp2 HG02258.hp1 HG02809.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0146 a0001c0001t0001g0263 a0001c0002t0001g0270 others(3): Show a0001c0001t0001g0146 a0001c0001t0001g0263 a0001c0002t0001g0270 a0001c0002t0001g0276 a0001c0002t0001g0284 a0001c0002t0001g0285	6	290	0.0207	-23	c.62+ others(38): Show c.62+2016_62+2038delAAAAAAAAAAAAAAAAAAAAAAA	HCK	ENSG00000101336.18	transcript	ENST00000375852.5	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
HCN1_chr5_45249948_45701380	45373244	AATATATA others(16): Show AATATATATTTTATATTATATATT	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	226	0.0044	-23	c.123 others(44): Show c.1231-20021_1231-19999delAATATATAATATAAAATATATAT	HCN1	ENSG00000164588.8	transcript	ENST00000303230.6	protein_coding	4/7			chr5	TogoVar
HCN1_chr5_45249948_45701380	45534404	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	226	0.0044	-23	c.850 others(42): Show c.850-72420_850-72398delTTTTTTTTTTTTTTTTTTTTTTT	HCN1	ENSG00000164588.8	transcript	ENST00000303230.6	protein_coding	2/7			chr5	TogoVar
HCN1_chr5_45249948_45701380	45649157	CCCCTCAA others(16): Show CCCCTCAAATCCCTTTCTACTTCT	C C	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0152 a0001c0001t0002g0152	1	226	0.0044	-23	c.426 others(40): Show c.426-3572_426-3550delAGAAGTAGAAAGGGATTTGAGGG	HCN1	ENSG00000164588.8	transcript	ENST00000303230.6	protein_coding	1/7			chr5	TogoVar
HCRTR2_chr6_55169515_55287617	55187411	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02615.hp2 HG02896.hp1 others(6): Show HG02280.hp1 HG02615.hp2 HG02896.hp1 HG02897.hp2 HG03486.hp1 HG03516.hp1 HG03540.hp1 NA18522.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0002 a0001c0001t0001 a0001c0003t0002	a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0021 others(6): Show a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0003t0002g0024	9	368	0.0245	-23	c.223 others(42): Show c.223+12617_223+12639delAAAAAAAAAAAAAAAAAAAAAAA	HCRTR2	ENSG00000137252.10	transcript	ENST00000370862.4	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
HDAC4_chr2_239043168_239406020	239211505	AAAAGAAA others(16): Show AAAAGAAACATCAAAGGAATCTGC	A A	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0218 a0001c0001t0006g0218	1	242	0.0041	-23	c.95- others(40): Show c.95-21451_95-21429delGCAGATTCCTTTGATGTTTCTTT	HDAC4	ENSG00000068024.18	transcript	ENST00000543185.6	protein_coding	3/26			chr2	TogoVar
HDAC4_chr2_239043168_239406020	239282686	TACAATGT others(16): Show TACAATGTACACACCACTCTGCAA	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01358.hp1 HG01884.hp2 others(5): Show HG01243.hp2 HG01358.hp1 HG01884.hp2 HG02486.hp2 HG02615.hp2 HG03225.hp1 NA18522.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0009 others(2): Show a0001c0001 a0001c0003 a0001c0009 a0001c0010 a0001c0015	a0001c0001t0001 a0001c0001t0003 a0001c0001t0052 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0052 a0001c0001t0061 a0001c0003t0065 a0001c0009t0051 a0001c0010t0003 a0001c0015t0074	a0001c0001t0001g0002 a0001c0001t0003g0041 a0001c0001t0052g0073 others(5): Show a0001c0001t0001g0002 a0001c0001t0003g0041 a0001c0001t0052g0073 a0001c0001t0061g0074 a0001c0003t0065g0038 a0001c0009t0051g0020 a0001c0010t0003g0034 a0001c0015t0074g0028	8	242	0.0331	-23	c.23- others(40): Show c.23-46045_23-46023delTTGCAGAGTGGTGTGTACATTGT	HDAC4	ENSG00000068024.18	transcript	ENST00000543185.6	protein_coding	2/26			chr2	TogoVar
HDAC4_chr2_239043168_239406020	239374386	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0041 a0001c0010t0041	a0001c0010t0041g0066 a0001c0010t0041g0066	1	242	0.0041	-23	c.-21 others(44): Show c.-219-21491_-219-21469delAAAAAAAAAAAAAAAAAAAAAAA	HDAC4	ENSG00000068024.18	transcript	ENST00000543185.6	protein_coding	1/26			chr2	TogoVar
HDAC8_chrX_72324516_72577843	72416408	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0196 a0001c0001t0002g0196	1	208	0.0048	-23	c.100 others(44): Show c.1005+45573_1005+45595delAAAAAAAAAAAAAAAAAAAAAAA	HDAC8	ENSG00000147099.21	transcript	ENST00000373573.9	protein_coding	9/10			chrX	TogoVar
HDAC9_chr7_18490749_19007416	18946036	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03453.hp1 HG03486.hp1 others(3): Show HG02922.hp2 HG03453.hp1 HG03486.hp1 NA19030.hp2 NA19043.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0019 a0001c0001t0020 a0001c0001t0031 others(2): Show a0001c0001t0019 a0001c0001t0020 a0001c0001t0031 a0001c0002t0018 a0001c0004t0018	a0001c0001t0019g0114 a0001c0001t0020g0137 a0001c0001t0020g0141 others(3): Show a0001c0001t0019g0114 a0001c0001t0020g0137 a0001c0001t0020g0141 a0001c0001t0031g0152 a0001c0002t0018g0021 a0001c0004t0018g0145	6	156	0.0385	-23	c.293 others(42): Show c.2938-8094_2938-8072delAAAAAAAAAAAAAAAAAAAAAAA	HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	23/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
HDC_chr15_50236947_50270726	50240886	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	418	0.0024	-23	c.13 others(34): Show c.1351_*1373delTTTTTTTTTTTTTTTTTTTTTTT	HDC	ENSG00000140287.11	transcript	ENST00000267845.8	protein_coding		1060		chr15	TogoVar
HEATR4_chr14_73473484_73563947	73477078	ATATATAT others(16): Show ATATATATATATATATATTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18952.hp2 NA19011.hp2 NA18952.hp2 NA19011.hp2	a0001 a0014 a0001 a0014	a0001c0002 a0014c0025 a0001c0002 a0014c0025	a0001c0002t0002 a0014c0025t0001 a0001c0002t0002 a0014c0025t0001	a0001c0002t0002g0318 a0014c0025t0001g0056 a0001c0002t0002g0318 a0014c0025t0001g0056	2	368	0.0054	-23	c.15 others(34): Show c.1505_*1527delAAAAAAATATATATATATATATA	HEATR4	ENSG00000187105.9	transcript	ENST00000553558.6	protein_coding		1405		chr14	TogoVar
HEATR4_chr14_73473484_73563947	73477080	ATATATAT others(16): Show ATATATATATATATATTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0054 a0001c0002t0001g0054	1	368	0.0027	-23	c.15 others(34): Show c.1503_*1525delAAAAAAAAATATATATATATATA	HEATR4	ENSG00000187105.9	transcript	ENST00000553558.6	protein_coding		1403		chr14	TogoVar
HEATR4_chr14_73473484_73563947	73477082	ATATATAT others(16): Show ATATATATATATATTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp2 NA18943.hp2 NA18947.hp1 others(8): Show HG01358.hp2 NA18943.hp2 NA18947.hp1 NA18950.hp2 NA18959.hp2 NA18977.hp2 NA19007.hp2 NA19060.hp1 NA19066.hp1 NA19083.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002	a0001c0001t0002g0205 a0001c0001t0002g0261 a0001c0001t0002g0317 others(8): Show a0001c0001t0002g0205 a0001c0001t0002g0261 a0001c0001t0002g0317 a0001c0002t0001g0093 a0001c0002t0002g0208 a0001c0002t0002g0288 a0001c0002t0002g0289 a0001c0002t0002g0290 a0001c0002t0002g0298 a0001c0002t0002g0299 a0001c0002t0002g0326	11	368	0.0299	-23	c.15 others(34): Show c.1501_*1523delAAAAAAAAAAATATATATATATA	HEATR4	ENSG00000187105.9	transcript	ENST00000553558.6	protein_coding		1401		chr14	TogoVar
HEATR4_chr14_73473484_73563947	73477084	ATATATAT others(16): Show ATATATATATATTTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18977.hp1 NA18999.hp2 NA18977.hp1 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0095 a0001c0001t0003g0234 a0001c0001t0001g0095 a0001c0001t0003g0234	2	368	0.0054	-23	c.14 others(34): Show c.1499_*1521delAAAAAAAAAAAAATATATATATA	HEATR4	ENSG00000187105.9	transcript	ENST00000553558.6	protein_coding		1399		chr14	TogoVar
HEBP2_chr6_138399223_138427197	138401671	ACCTTGTG others(16): Show ACCTTGTGATGATGGTTGCCCAGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00738.hp1 HG01099.hp2 others(80): Show HG00140.hp2 HG00738.hp1 HG01099.hp2 HG01109.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp2 HG01934.hp2 HG01975.hp2 HG02027.hp1 HG02055.hp1 HG02148.hp1 HG02165.hp2 HG02257.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp1 HG02735.hp2 HG02809.hp1 HG02818.hp1 HG02895.hp2 HG02897.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03704.hp1 HG03834.hp2 HG04204.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18944.hp2 NA18947.hp2 NA18948.hp2 NA18950.hp1 NA18952.hp2 NA18957.hp2 NA18961.hp2 NA18966.hp2 NA18968.hp2 NA18973.hp2 NA18981.hp2 NA18990.hp2 NA18992.hp1 NA19001.hp1 NA19002.hp2 NA19005.hp2 NA19030.hp1 NA19030.hp2 NA19056.hp1 NA19064.hp1 NA19066.hp1 NA19077.hp2 NA19083.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20752.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0007c0006	a0001c0001t0061 a0001c0001t0067 a0001c0002t0001 others(37): Show a0001c0001t0061 a0001c0001t0067 a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0002t0007 a0001c0002t0011 a0001c0002t0014 a0001c0002t0015 a0001c0002t0019 a0001c0002t0025 a0001c0002t0047 a0001c0002t0059 a0001c0002t0062 a0001c0002t0063 a0001c0002t0064 a0001c0002t0065 a0001c0002t0066 a0001c0002t0069 a0001c0002t0070 a0001c0002t0071 a0001c0002t0074 a0001c0002t0075 a0001c0002t0076 a0001c0002t0078 a0001c0002t0079 a0001c0002t0080 a0001c0002t0081 a0001c0002t0082 a0001c0002t0083 a0001c0003t0004 a0001c0003t0007 a0001c0003t0017 a0001c0003t0026 a0001c0003t0027 a0001c0003t0036 a0001c0003t0060 a0001c0003t0072 a0001c0004t0029 a0007c0006t0068	a0001c0001t0061g0026 a0001c0001t0067g0060 a0001c0002t0001g0015 others(40): Show a0001c0001t0061g0026 a0001c0001t0067g0060 a0001c0002t0001g0015 a0001c0002t0002g0015 a0001c0002t0002g0018 a0001c0002t0006g0033 a0001c0002t0007g0003 a0001c0002t0011g0007 a0001c0002t0011g0032 a0001c0002t0014g0012 a0001c0002t0014g0031 a0001c0002t0015g0005 a0001c0002t0019g0013 a0001c0002t0025g0003 a0001c0002t0047g0018 a0001c0002t0059g0003 a0001c0002t0062g0003 a0001c0002t0063g0003 a0001c0002t0064g0028 a0001c0002t0065g0003 a0001c0002t0066g0003 a0001c0002t0069g0025 a0001c0002t0070g0029 a0001c0002t0071g0034 a0001c0002t0074g0005 a0001c0002t0075g0005 a0001c0002t0076g0005 a0001c0002t0078g0014 a0001c0002t0079g0014 a0001c0002t0080g0014 a0001c0002t0081g0003 a0001c0002t0082g0007 a0001c0002t0083g0007 a0001c0003t0004g0002 a0001c0003t0007g0003 a0001c0003t0017g0002 a0001c0003t0026g0002 a0001c0003t0027g0019 a0001c0003t0036g0002 a0001c0003t0060g0002 a0001c0003t0072g0030 a0001c0004t0029g0035 a0007c0006t0068g0027	83	316	0.2627	-23	c.-28 others(34): Show c.-2824_-2802delCCTTGTGATGATGGTTGCCCAGT	HEBP2	ENSG00000051620.11	transcript	ENST00000607197.6	protein_coding		2551		chr6	TogoVar
HELZ_chr17_67065444_67250196	67081895	GAAGAGCA others(16): Show GAAGAGCAGAGTGATCAGAAGACC	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00280.hp2 others(178): Show HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00642.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp2 HG01169.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01258.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01515.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01981.hp2 HG01993.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02257.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02647.hp2 HG02698.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03209.hp1 HG03239.hp2 HG03471.hp2 HG03490.hp2 HG03491.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03927.hp1 HG03927.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18944.hp2 NA18954.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18970.hp1 NA18971.hp2 NA18975.hp1 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18983.hp1 NA18989.hp1 NA18989.hp2 NA18994.hp2 NA18998.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp2 NA19054.hp1 NA19054.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(7): Show a0001 a0002 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0013	a0001c0001 a0001c0003 a0001c0006 others(12): Show a0001c0001 a0001c0003 a0001c0006 a0001c0012 a0001c0013 a0002c0002 a0002c0011 a0004c0005 a0005c0007 a0006c0009 a0007c0008 a0008c0010 a0009c0019 a0010c0018 a0013c0014	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(44): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0015 a0001c0001t0017 a0001c0001t0021 a0001c0001t0029 a0001c0001t0034 a0001c0001t0036 a0001c0001t0049 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0003t0003 a0001c0003t0024 a0001c0006t0022 a0001c0012t0001 a0001c0013t0001 a0002c0002t0003 a0002c0002t0005 a0002c0002t0014 a0002c0002t0020 a0002c0002t0023 a0002c0002t0025 a0002c0002t0027 a0002c0002t0031 a0002c0002t0046 a0002c0002t0047 a0002c0002t0048 a0002c0002t0050 a0002c0011t0003 a0004c0005t0012 a0005c0007t0028 a0006c0009t0027 a0007c0008t0003 a0008c0010t0023 a0009c0019t0012 a0010c0018t0001 a0013c0014t0006	a0001c0001t0001g0088 a0001c0001t0001g0168 a0001c0001t0001g0169 others(178): Show a0001c0001t0001g0088 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0006g0202 a0001c0001t0006g0229 a0001c0001t0006g0245 a0001c0001t0006g0247 a0001c0001t0006g0249 a0001c0001t0006g0250 a0001c0001t0006g0251 a0001c0001t0007g0158 a0001c0001t0007g0159 a0001c0001t0007g0161 a0001c0001t0007g0162 a0001c0001t0007g0164 a0001c0001t0007g0165 a0001c0001t0007g0166 a0001c0001t0008g0171 a0001c0001t0008g0178 a0001c0001t0008g0188 a0001c0001t0008g0210 a0001c0001t0008g0218 a0001c0001t0008g0240 a0001c0001t0008g0246 a0001c0001t0010g0174 a0001c0001t0010g0199 a0001c0001t0010g0200 a0001c0001t0010g0201 a0001c0001t0010g0233 a0001c0001t0011g0181 a0001c0001t0011g0189 a0001c0001t0011g0208 a0001c0001t0011g0232 a0001c0001t0011g0248 a0001c0001t0015g0180 a0001c0001t0015g0196 a0001c0001t0015g0212 a0001c0001t0017g0097 a0001c0001t0017g0098 a0001c0001t0021g0092 a0001c0001t0021g0093 a0001c0001t0029g0214 a0001c0001t0029g0219 a0001c0001t0034g0273 a0001c0001t0036g0216 a0001c0001t0049g0091 a0001c0001t0054g0193 a0001c0001t0055g0167 a0001c0001t0056g0146 a0001c0001t0057g0221 a0001c0001t0058g0239 a0001c0001t0059g0226 a0001c0001t0060g0228 a0001c0001t0061g0163 a0001c0003t0003g0108 a0001c0003t0003g0110 a0001c0003t0003g0150 a0001c0003t0024g0109 a0001c0003t0024g0111 a0001c0006t0022g0014 a0001c0006t0022g0015 a0001c0012t0001g0194 a0001c0013t0001g0179 a0002c0002t0003g0013 a0002c0002t0003g0019 a0002c0002t0003g0022 a0002c0002t0003g0023 a0002c0002t0003g0025 a0002c0002t0003g0026 a0002c0002t0003g0027 a0002c0002t0003g0032 a0002c0002t0003g0033 a0002c0002t0003g0034 a0002c0002t0003g0035 a0002c0002t0003g0036 a0002c0002t0003g0037 a0002c0002t0003g0039 a0002c0002t0003g0040 a0002c0002t0003g0042 a0002c0002t0003g0043 a0002c0002t0003g0045 a0002c0002t0003g0047 a0002c0002t0003g0048 a0002c0002t0003g0049 a0002c0002t0003g0050 a0002c0002t0003g0051 a0002c0002t0003g0052 a0002c0002t0003g0055 a0002c0002t0003g0056 a0002c0002t0003g0057 a0002c0002t0003g0058 a0002c0002t0003g0059 a0002c0002t0003g0060 a0002c0002t0003g0061 a0002c0002t0003g0062 a0002c0002t0003g0063 a0002c0002t0003g0064 a0002c0002t0003g0066 a0002c0002t0003g0067 a0002c0002t0003g0068 a0002c0002t0003g0069 a0002c0002t0003g0071 a0002c0002t0005g0016 a0002c0002t0005g0073 a0002c0002t0005g0074 a0002c0002t0005g0075 a0002c0002t0005g0076 a0002c0002t0005g0077 a0002c0002t0005g0080 a0002c0002t0005g0081 a0002c0002t0005g0083 a0002c0002t0005g0084 a0002c0002t0005g0086 a0002c0002t0005g0087 a0002c0002t0014g0017 a0002c0002t0014g0021 a0002c0002t0014g0029 a0002c0002t0020g0078 a0002c0002t0020g0079 a0002c0002t0023g0046 a0002c0002t0025g0024 a0002c0002t0025g0030 a0002c0002t0027g0054 a0002c0002t0031g0065 a0002c0002t0046g0085 a0002c0002t0047g0082 a0002c0002t0048g0070 a0002c0002t0050g0044 a0002c0011t0003g0018 a0004c0005t0012g0053 a0004c0005t0012g0072 a0005c0007t0028g0089 a0005c0007t0028g0090 a0006c0009t0027g0031 a0007c0008t0003g0038 a0008c0010t0023g0028 a0009c0019t0012g0041 a0010c0018t0001g0204 a0013c0014t0006g0215	181	274	0.6606	-23	c.549 others(42): Show c.5495-3332_5495-3310delGGTCTTCTGATCACTCTGCTCTT	HELZ	ENSG00000198265.12	transcript	ENST00000358691.10	protein_coding	32/32			chr17	TogoVar
HEPACAM2_chr7_93183534_93231469	93228376	ATACGGCA others(16): Show ATACGGCACATCTAGGGAAAGGGC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	368	0.0027	-23	c.-19 others(34): Show c.-1953_-1931delGCCCTTTCCCTAGATGTGCCGTA	HEPACAM2	ENSG00000188175.10	transcript	ENST00000394468.7	protein_coding		1908		chr7	TogoVar
HERC1_chr15_63603618_63838948	63826805	AAAAAAAA others(16): Show AAAAAAAAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01070.hp1 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0105 a0001c0001t0001g0106	2	216	0.0093	-23	c.-27 others(40): Show c.-27+6999_-27+7021delATATATATATATATTTTTTTTTT	HERC1	ENSG00000103657.14	transcript	ENST00000443617.7	protein_coding	1/77			chr15	TogoVar
HERC4_chr10_67916905_68080283	67927399	TATATATA others(16): Show TATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02257.hp2 HG02258.hp1 HG01433.hp2 HG02257.hp2 HG02258.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0343 a0001c0003t0003g0344 a0001c0003t0003g0345 a0001c0003t0003g0343 a0001c0003t0003g0344 a0001c0003t0003g0345	3	360	0.0083	-23	c.283 others(42): Show c.2839-2235_2839-2213delTATATATATATATATATATATAT	HERC4	ENSG00000148634.16	transcript	ENST00000373700.9	protein_coding	23/24			chr10	TogoVar
HERC4_chr10_67916905_68080283	67927403	TATATATA others(16): Show TATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01081.hp1 HG02280.hp2 others(11): Show HG00642.hp1 HG01081.hp1 HG02280.hp2 HG02486.hp2 HG02717.hp1 HG02809.hp2 HG02922.hp1 HG03209.hp2 HG03486.hp2 HG03516.hp1 HG06807.hp2 NA18522.hp1 NA19043.hp2 NA19240.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0004 a0001c0003t0003 a0001c0003t0004	a0001c0003t0003g0342 a0001c0003t0003g0346 a0001c0003t0003g0354 others(11): Show a0001c0003t0003g0342 a0001c0003t0003g0346 a0001c0003t0003g0354 a0001c0003t0003g0357 a0001c0003t0004g0347 a0001c0003t0004g0348 a0001c0003t0004g0349 a0001c0003t0004g0350 a0001c0003t0004g0351 a0001c0003t0004g0355 a0001c0003t0004g0356 a0001c0003t0004g0358 a0001c0003t0004g0359 a0001c0003t0004g0360	14	360	0.0389	-23	c.283 others(42): Show c.2839-2239_2839-2217delTATATATATATATATATATATAT	HERC4	ENSG00000148634.16	transcript	ENST00000373700.9	protein_coding	23/24			chr10	TogoVar
HERC4_chr10_67916905_68080283	67927405	TATATATA others(16): Show TATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0352 a0001c0003t0003g0352	1	360	0.0028	-23	c.283 others(42): Show c.2839-2241_2839-2219delTATATATATATATATATATATAT	HERC4	ENSG00000148634.16	transcript	ENST00000373700.9	protein_coding	23/24			chr10	TogoVar
HES5_chr1_2523745_2535263	2530947	ACCCGGCA others(16): Show ACCCGGCAGCTCTCCCCGCGGAGC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	427	0.0023	-23	c.-80 others(32): Show c.-806_-784delGCTCCGCGGGGAGAGCTGCCGGG	HES5	ENSG00000197921.6	transcript	ENST00000378453.4	protein_coding		685		chr1	TogoVar
HEXD_chr17_82413347_82447645	82433120	ATATATAT others(16): Show ATATATATATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	400	0.0025	-23	c.283 others(38): Show c.283-528_283-506delTTTTTTTTTTTTTTTATATATAT	HEXD	ENSG00000169660.17	transcript	ENST00000327949.15	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
HGFAC_chr4_3436968_3454486	3450778	CCCTCCCT others(16): Show CCCTCCCTCCCTTCTTCCTTCCTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18994.hp2 NA19057.hp2 NA18994.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0043 a0001c0001 a0001c0043	a0001c0001t0001 a0001c0043t0001 a0001c0001t0001 a0001c0043t0001	a0001c0001t0001g0001 a0001c0043t0001g0001 a0001c0001t0001g0001 a0001c0043t0001g0001	2	454	0.0044	-23	c.13 others(34): Show c.1360_*1382delCCTCCCTCCCTTCTTCCTTCCTT	HGFAC	ENSG00000109758.9	transcript	ENST00000382774.8	protein_coding		1293		chr4	TogoVar
HHIPL1_chr14_99640129_99685569	99656853	AAGGAAGG others(16): Show AAGGAAGGAAGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG00741.hp2 NA18747.hp2 NA18941.hp2 HG00741.hp2 NA18747.hp2 NA18941.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0278 a0002c0001t0001g0279 a0002c0001t0001g0288 a0002c0001t0001g0278 a0002c0001t0001g0279 a0002c0001t0001g0288	3	374	0.0080	-23	c.903 others(38): Show c.903-145_903-123delGGAAGGAAGGAAGGAAGGAAGGA	HHIPL1	ENSG00000182218.10	transcript	ENST00000330710.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr14	TogoVar
HHIPL1_chr14_99640129_99685569	99656869	AAGGAAGG others(16): Show AAGGAAGGAAGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG01978.hp1 NA18957.hp1 NA19009.hp1 HG01978.hp1 NA18957.hp1 NA19009.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0004 a0001c0003 a0002c0004	a0001c0003t0002 a0002c0004t0001 a0001c0003t0002 a0002c0004t0001	a0001c0003t0002g0344 a0001c0003t0002g0350 a0002c0004t0001g0337 a0001c0003t0002g0344 a0001c0003t0002g0350 a0002c0004t0001g0337	3	374	0.0080	-23	c.903 others(38): Show c.903-129_903-107delGGAAGGAAGGAAGGAAGGAAGGA	HHIPL1	ENSG00000182218.10	transcript	ENST00000330710.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr14	TogoVar
HHIPL1_chr14_99640129_99685569	99656871	GGAAGGAA others(16): Show GGAAGGAAGGAAGGAAGGAAGGAA	G G	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0006 a0002c0005t0006	a0002c0005t0006g0224 a0002c0005t0006g0224	1	374	0.0027	-23	c.903 others(38): Show c.903-127_903-105delAAGGAAGGAAGGAAGGAAGGAAG	HHIPL1	ENSG00000182218.10	transcript	ENST00000330710.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr14	TogoVar

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