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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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
HAT1_chr2_171917461_171988686	171953626	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	326	0.0031	19	c.309 others(34): Show c.309+636_309+654dupAAAAAAAAAAAAAAAAAAA	HAT1	ENSG00000128708.13	transcript	ENST00000264108.5	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
HAT1_chr2_171917461_171988686	171970496	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03486.hp1 NA20129.hp2 HG03486.hp1 NA20129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0245 a0002c0002t0001g0247 a0002c0002t0001g0245 a0002c0002t0001g0247	2	326	0.0061	19	c.823 others(36): Show c.823+3570_823+3588dupTTTTTTTTTTTTTTTTTTT	HAT1	ENSG00000128708.13	transcript	ENST00000264108.5	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
HAT1_chr2_171917461_171988686	171977557	A A	ATATATAT others(12): Show ATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG02523.hp2 NA18941.hp2 HG00323.hp1 HG02523.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0168 a0001c0001t0001g0181 a0001c0001t0001g0156 a0001c0001t0001g0168 a0001c0001t0001g0181	3	326	0.0092	19	c.975 others(36): Show c.975+1250_975+1251insATATATATATATATTTTTT	HAT1	ENSG00000128708.13	transcript	ENST00000264108.5	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
HAT1_chr2_171917461_171988686	171977557	A A	ATATATAT others(12): Show ATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18982.hp1 NA18747.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0197 a0001c0001t0001g0164 a0001c0001t0001g0197	2	326	0.0061	19	c.975 others(36): Show c.975+1250_975+1251insATATATATATATTTTTTTT	HAT1	ENSG00000128708.13	transcript	ENST00000264108.5	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
HAT1_chr2_171917461_171988686	171977557	A A	ATATATAT others(12): Show ATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp2 NA18979.hp2 HG00597.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0207 a0001c0001t0001g0208	2	326	0.0061	19	c.975 others(36): Show c.975+1250_975+1251insATATATATATTTTTTTTTT	HAT1	ENSG00000128708.13	transcript	ENST00000264108.5	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
HAT1_chr2_171917461_171988686	171977558	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03654.hp1 NA20905.hp1 HG03654.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0249 a0001c0001t0001g0169 a0001c0001t0001g0249	2	326	0.0061	19	c.975 others(36): Show c.975+1250_975+1251insATATATATATATATATATA	HAT1	ENSG00000128708.13	transcript	ENST00000264108.5	protein_coding	9/10			chr2	TogoVar
HAUS3_chr4_2223349_2247121	2244068	A A	AGAGACAG others(12): Show AGAGACAGAGACAGACAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0006 a0001c0001t0007g0006	1	330	0.0030	19	c.-24 others(30): Show c.-2437_-2436insCTCTGTCTGTCTCTGTCTC	HAUS3	ENSG00000214367.10	transcript	ENST00000443786.3	protein_coding		1948		chr4	TogoVar
HAVCR1_chr5_157024413_157064116	157039383	C C	CTGTTGCC others(12): Show CTGTTGCCTATACATAGTGA	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	352	0.0028	19	c.838 others(36): Show c.838-2023_838-2022insTCACTATGTATAGGCAACA	HAVCR1	ENSG00000113249.14	transcript	ENST00000523175.6	protein_coding	6/8			chr5	TogoVar
HAVCR1_chr5_157024413_157064116	157042066	T T	TAGCTCAT others(12): Show TAGCTCATTCTTTCTTCCCC	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0183 a0002c0002t0001g0183	1	352	0.0028	19	c.837 others(34): Show c.837+542_837+560dupGGGGAAGAAAGAATGAGCT	HAVCR1	ENSG00000113249.14	transcript	ENST00000523175.6	protein_coding	6/8			chr5	TogoVar
HAVCR1_chr5_157024413_157064116	157044421	G G	GAAGGAAG others(12): Show GAAGGAAGGAAGGAAGGAGA	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0018 a0004c0004t0002g0018	1	352	0.0028	19	c.782 others(36): Show c.782-1740_782-1739insTCTCCTTCCTTCCTTCCTT	HAVCR1	ENSG00000113249.14	transcript	ENST00000523175.6	protein_coding	5/8			chr5	TogoVar
HAX1_chr1_154267629_154280875	154277333	T T	TATATATA others(12): Show TATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG02818.hp2 HG03139.hp1 others(2): Show HG02622.hp1 HG02818.hp2 HG03139.hp1 NA18970.hp1 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0005 a0001c0002t0001g0002 a0001c0001t0001g0005 a0001c0002t0001g0002	5	392	0.0128	19	c.16 others(30): Show c.1632_*1633insATATATATATATATATATA	HAX1	ENSG00000143575.16	transcript	ENST00000328703.12	protein_coding		1459		chr1	TogoVar
HBM_chr16_160978_171764	164789	C C	CGGGGTCG others(12): Show CGGGGTCGCGGGGCGGGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0001 a0002c0003t0001g0001	1	370	0.0027	19	c.-12 others(30): Show c.-1209_-1208insGGGGTCGCGGGGCGGGGCG	HBM	ENSG00000206177.7	transcript	ENST00000356815.4	protein_coding		1188		chr16	TogoVar
HBP1_chr7_107164003_107207522	107171073	A A	ATATATAT others(12): Show ATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0218 a0001c0002t0001g0218	1	368	0.0027	19	c.-16 others(36): Show c.-16+1889_-16+1890insATATATTTTTTTTTTTTTT	HBP1	ENSG00000105856.14	transcript	ENST00000222574.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
HBP1_chr7_107164003_107207522	107186147	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0218 a0001c0002t0001g0218	1	368	0.0027	19	c.541 others(34): Show c.541-206_541-205insTTTTTTTTTTTTTTTTTTT	HBP1	ENSG00000105856.14	transcript	ENST00000222574.9	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
HBQ1_chr16_175459_186179	182131	A A	ACAGGCCG others(12): Show ACAGGCCGGGCGCGGTGGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	384	0.0026	19	c.10 others(30): Show c.1023_*1024insCAGGCCGGGCGCGGTGGCT	HBQ1	ENSG00000086506.3	transcript	ENST00000199708.3	protein_coding		953		chr16	TogoVar
HBQ1_chr16_175459_186179	184371	C C	CTACCCTT others(12): Show CTACCCTTAACCCACTCAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	384	0.0026	19	c.32 others(30): Show c.3263_*3264insTACCCTTAACCCACTCAGG	HBQ1	ENSG00000086506.3	transcript	ENST00000199708.3	protein_coding		3193		chr16	TogoVar
HBS1L_chr6_134955378_135059822	135040344	C C	CCTTTTTT others(12): Show CCTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0035 a0001c0001t0034 a0001c0001t0035	a0001c0001t0034g0254 a0001c0001t0035g0255 a0001c0001t0034g0254 a0001c0001t0035g0255	2	348	0.0058	19	c.236 others(34): Show c.236-578_236-577insAAAAAAAAAAAAAAAAAAG	HBS1L	ENSG00000112339.15	transcript	ENST00000367837.10	protein_coding	3/17			chr6	TogoVar
HBZ_chr16_147644_159503	154145	C C	CGGGGCGG others(12): Show CGGGGCGGGGCGGGGTCGCG	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	432	0.0023	19	c.300 others(32): Show c.300+52_300+53insGCGGGGCGGGGTCGCGGGG	HBZ	ENSG00000130656.6	transcript	ENST00000252951.3	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr16	TogoVar
HCK_chr20_32047242_32106856	32094700	A A	AAAGAAAG others(12): Show AAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18968.hp1 NA18980.hp2 NA18950.hp2 NA18968.hp1 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197	3	290	0.0103	19	c.124 others(36): Show c.1246+686_1246+687insGAAAGAAAGAAAGAAAGAA	HCK	ENSG00000101336.18	transcript	ENST00000375852.5	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
HCK_chr20_32047242_32106856	32099350	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02615.hp1 HG02723.hp2 others(2): Show HG02451.hp1 HG02615.hp1 HG02723.hp2 HG02896.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0002t0001g0223 others(2): Show a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0002t0001g0223 a0001c0002t0001g0229 a0001c0002t0001g0234	5	290	0.0172	19	c.137 others(36): Show c.1378+222_1378+240dupTTTTTTTTTTTTTTTTTTT	HCK	ENSG00000101336.18	transcript	ENST00000375852.5	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
HCK_chr20_32047242_32106856	32103203	A A	AGCTGGGG others(12): Show AGCTGGGGGCTGCCTCCAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00609.hp1 others(94): Show HG00140.hp2 HG00323.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp2 HG00642.hp2 HG01099.hp2 HG01106.hp1 HG01123.hp2 HG01243.hp1 HG01255.hp1 HG01258.hp1 HG01361.hp1 HG01515.hp1 HG01516.hp1 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02083.hp2 HG02135.hp1 HG02165.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02559.hp1 HG02572.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp2 HG02723.hp1 HG02886.hp1 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG03130.hp1 HG03195.hp1 HG03209.hp1 HG03239.hp1 HG03491.hp1 HG03492.hp1 HG03540.hp2 HG03654.hp2 HG03688.hp1 HG03942.hp2 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18747.hp1 NA18950.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18962.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18975.hp2 NA18977.hp2 NA18979.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18985.hp2 NA18989.hp1 NA18991.hp1 NA18998.hp2 NA19005.hp2 NA19010.hp1 NA19011.hp2 NA19060.hp2 NA19065.hp1 NA19081.hp1 NA19081.hp2 NA19088.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0004c0005	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0006t0001 a0004c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(94): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0113 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0157 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0171 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0206 a0001c0001t0001g0240 a0001c0001t0001g0250 a0001c0001t0001g0260 a0001c0001t0001g0277 a0001c0001t0001g0280 a0001c0001t0001g0283 a0001c0001t0001g0286 a0001c0001t0001g0289 a0001c0002t0001g0132 a0001c0002t0001g0214 a0001c0002t0001g0215 a0001c0002t0001g0216 a0001c0002t0001g0257 a0001c0002t0001g0259 a0001c0002t0001g0270 a0001c0002t0001g0276 a0001c0002t0001g0284 a0001c0002t0001g0285 a0001c0002t0001g0288 a0001c0003t0001g0097 a0001c0003t0001g0172 a0001c0006t0001g0076 a0004c0005t0001g0127	97	290	0.3345	19	c.16 others(30): Show c.1684_*1685insGCTGGGGGCTGCCTCCAGG	HCK	ENSG00000101336.18	transcript	ENST00000375852.5	protein_coding		1348		chr20	TogoVar
HCLS1_chr3_121626399_121665903	121665400	A A	ATTCAATA others(12): Show ATTCAATACCAACTTTGTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0012 a0003c0003t0002g0012	1	390	0.0026	19	c.-45 others(30): Show c.-4582_-4581insAGACAAAGTTGGTATTGAA	HCLS1	ENSG00000180353.11	transcript	ENST00000314583.8	protein_coding		4498		chr3	TogoVar
HCRTR2_chr6_55169515_55287617	55241861	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	368	0.0027	19	c.224 others(36): Show c.224-6773_224-6755dupTTTTTTTTTTTTTTTTTTT	HCRTR2	ENSG00000137252.10	transcript	ENST00000370862.4	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
HDAC1_chr1_32287083_32338626	32316283	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03209.hp1 HG02647.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0114 a0001c0001t0001g0087 a0001c0001t0001g0114	2	146	0.0137	19	c.163 others(34): Show c.163-371_163-370insAAAAAAAAAAAAAAAAAAA	HDAC1	ENSG00000116478.12	transcript	ENST00000373548.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
HDAC4_chr2_239043168_239406020	239176357	C C	CCCCTCCC others(12): Show CCCCTCCCTCTGCCCGGCCT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(94): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00323.hp2 HG00609.hp2 HG00639.hp2 HG00735.hp1 HG00735.hp2 HG01071.hp2 HG01099.hp2 HG01106.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01243.hp2 HG01257.hp2 HG01358.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG02027.hp2 HG02040.hp2 HG02071.hp1 HG02071.hp2 HG02109.hp1 HG02132.hp1 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02523.hp2 HG02602.hp1 HG02602.hp2 HG02683.hp1 HG02717.hp1 HG02717.hp2 HG02738.hp2 HG02896.hp1 HG02922.hp1 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03942.hp2 HG04184.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18961.hp2 NA18977.hp1 NA18990.hp2 NA18998.hp1 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19068.hp1 NA19079.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20805.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0006 a0010 a0001 a0006 a0010	a0001c0001 a0001c0002 a0001c0003 others(18): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0001c0016 a0001c0024 a0001c0026 a0001c0027 a0001c0030 a0001c0033 a0001c0035 a0001c0036 a0006c0025 a0010c0020	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(62): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0014 a0001c0001t0017 a0001c0001t0021 a0001c0001t0025 a0001c0001t0031 a0001c0001t0035 a0001c0001t0052 a0001c0001t0055 a0001c0001t0057 a0001c0001t0063 a0001c0002t0001 a0001c0002t0004 a0001c0002t0006 a0001c0002t0012 a0001c0002t0015 a0001c0002t0016 a0001c0002t0020 a0001c0002t0043 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0007 a0001c0003t0034 a0001c0004t0004 a0001c0004t0059 a0001c0004t0062 a0001c0005t0001 a0001c0005t0007 a0001c0005t0064 a0001c0007t0003 a0001c0007t0005 a0001c0007t0007 a0001c0007t0021 a0001c0007t0036 a0001c0008t0001 a0001c0009t0040 a0001c0009t0051 a0001c0009t0054 a0001c0010t0003 a0001c0010t0008 a0001c0011t0001 a0001c0011t0006 a0001c0011t0025 a0001c0012t0028 a0001c0012t0030 a0001c0016t0003 a0001c0016t0019 a0001c0024t0069 a0001c0026t0001 a0001c0027t0009 a0001c0030t0001 a0001c0033t0001 a0001c0035t0067 a0001c0036t0072 a0006c0025t0044 a0010c0020t0038	a0001c0001t0001g0057 a0001c0001t0001g0061 a0001c0001t0001g0062 others(94): Show a0001c0001t0001g0057 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0085 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0136 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0156 a0001c0001t0001g0170 a0001c0001t0001g0200 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0002g0160 a0001c0001t0002g0196 a0001c0001t0002g0224 a0001c0001t0003g0097 a0001c0001t0004g0186 a0001c0001t0005g0082 a0001c0001t0005g0161 a0001c0001t0006g0227 a0001c0001t0008g0174 a0001c0001t0011g0201 a0001c0001t0014g0190 a0001c0001t0017g0027 a0001c0001t0021g0137 a0001c0001t0025g0132 a0001c0001t0031g0092 a0001c0001t0035g0090 a0001c0001t0052g0073 a0001c0001t0055g0077 a0001c0001t0057g0088 a0001c0001t0063g0149 a0001c0002t0001g0167 a0001c0002t0001g0172 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0183 a0001c0002t0001g0197 a0001c0002t0001g0214 a0001c0002t0004g0210 a0001c0002t0004g0222 a0001c0002t0006g0226 a0001c0002t0012g0143 a0001c0002t0015g0184 a0001c0002t0016g0178 a0001c0002t0020g0175 a0001c0002t0043g0089 a0001c0003t0001g0023 a0001c0003t0001g0233 a0001c0003t0002g0144 a0001c0003t0003g0068 a0001c0003t0004g0017 a0001c0003t0004g0042 a0001c0003t0004g0123 a0001c0003t0007g0124 a0001c0003t0007g0229 a0001c0003t0034g0007 a0001c0004t0004g0009 a0001c0004t0004g0013 a0001c0004t0059g0006 a0001c0004t0062g0075 a0001c0005t0001g0079 a0001c0005t0001g0080 a0001c0005t0001g0128 a0001c0005t0007g0078 a0001c0005t0064g0039 a0001c0007t0003g0033 a0001c0007t0005g0126 a0001c0007t0007g0015 a0001c0007t0021g0024 a0001c0007t0036g0011 a0001c0008t0001g0207 a0001c0009t0040g0072 a0001c0009t0051g0020 a0001c0009t0054g0122 a0001c0010t0003g0034 a0001c0010t0008g0067 a0001c0010t0008g0228 a0001c0011t0001g0118 a0001c0011t0006g0119 a0001c0011t0025g0050 a0001c0012t0028g0133 a0001c0012t0030g0225 a0001c0016t0003g0029 a0001c0016t0019g0130 a0001c0024t0069g0106 a0001c0026t0001g0036 a0001c0027t0009g0148 a0001c0030t0001g0064 a0001c0033t0001g0179 a0001c0035t0067g0043 a0001c0036t0072g0129 a0006c0025t0044g0059 a0010c0020t0038g0054	97	242	0.4008	19	c.490 others(32): Show c.490+37_490+55dupAGGCCGGGCAGAGGGAGGG	HDAC4	ENSG00000068024.18	transcript	ENST00000543185.6	protein_coding	5/26			chr2	TogoVar
HDAC4_chr2_239043168_239406020	239176372	G G	GGCCTCCC others(12): Show GGCCTCCCTCCCTCTGCCCA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00741.hp2 HG01884.hp1 others(13): Show HG00642.hp2 HG00741.hp2 HG01884.hp1 HG01993.hp2 HG02055.hp1 HG02572.hp2 HG02615.hp2 HG02647.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02970.hp2 HG03041.hp1 HG03130.hp2 HG03195.hp1 HG03486.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0009 a0001c0022 a0003c0018 a0003c0019	a0001c0001t0001 a0001c0001t0005 a0001c0001t0039 others(12): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0039 a0001c0001t0056 a0001c0001t0061 a0001c0001t0066 a0001c0002t0008 a0001c0003t0005 a0001c0004t0032 a0001c0004t0071 a0001c0007t0003 a0001c0009t0053 a0001c0022t0070 a0003c0018t0001 a0003c0019t0019	a0001c0001t0001g0025 a0001c0001t0005g0016 a0001c0001t0039g0219 others(13): Show a0001c0001t0001g0025 a0001c0001t0005g0016 a0001c0001t0039g0219 a0001c0001t0056g0127 a0001c0001t0061g0074 a0001c0001t0066g0005 a0001c0002t0008g0131 a0001c0003t0005g0004 a0001c0003t0005g0081 a0001c0004t0032g0046 a0001c0004t0071g0022 a0001c0007t0003g0044 a0001c0009t0053g0003 a0001c0022t0070g0094 a0003c0018t0001g0096 a0003c0019t0019g0008	16	242	0.0661	19	c.490 others(32): Show c.490+40_490+41insTGGGCAGAGGGAGGGAGGC	HDAC4	ENSG00000068024.18	transcript	ENST00000543185.6	protein_coding	5/26			chr2	TogoVar
HDAC4_chr2_239043168_239406020	239197847	T T	TGTGTGTG others(12): Show TGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0057	a0001c0001t0057g0088 a0001c0001t0057g0088	1	242	0.0041	19	c.95- others(34): Show c.95-7771_95-7770insCACACACACACACACACAC	HDAC4	ENSG00000068024.18	transcript	ENST00000543185.6	protein_coding	3/26			chr2	TogoVar
HDAC9_chr7_18490749_19007416	18719331	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	156	0.0064	19	c.173 others(38): Show c.1732-8241_1732-8223dupTTTTTTTTTTTTTTTTTTT	HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	12/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
HDHD3_chr9_113368422_113381986	113381760	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG01071.hp2 HG01256.hp1 others(21): Show HG00140.hp1 HG01071.hp2 HG01256.hp1 HG01258.hp2 HG01361.hp2 HG01517.hp1 HG01952.hp1 HG02015.hp1 HG02129.hp1 HG02132.hp2 HG03195.hp2 HG03688.hp1 HG03710.hp1 HG03834.hp1 HG03942.hp1 NA18612.hp2 NA18943.hp2 NA18952.hp1 NA18953.hp2 NA18959.hp2 NA18968.hp2 NA19004.hp1 NA19064.hp1 NA19080.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0003 a0001c0001 a0002c0002 a0002c0003	a0001c0001t0001 a0002c0002t0002 a0002c0002t0011 others(1): Show a0001c0001t0001 a0002c0002t0002 a0002c0002t0011 a0002c0003t0002	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0027 others(7): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0030 a0002c0002t0002g0004 a0002c0002t0002g0049 a0002c0002t0011g0069 a0002c0003t0002g0019 a0002c0003t0002g0025	24	464	0.0517	19	c.-53 others(30): Show c.-5323_-5322insAAAAAAAAAAAAAAAAAAA	HDHD3	ENSG00000119431.10	transcript	ENST00000374180.4	protein_coding		4775		chr9	TogoVar
HEATR4_chr14_73473484_73563947	73506804	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00673.hp2 HG02135.hp2 others(13): Show HG00609.hp1 HG00673.hp2 HG02135.hp2 HG02976.hp2 HG03098.hp1 NA18747.hp1 NA18961.hp1 NA18977.hp1 NA18982.hp2 NA18985.hp2 NA18986.hp2 NA18998.hp2 NA19000.hp1 NA19056.hp2 NA19083.hp2 NA19084.hp2	a0001 a0021 a0001 a0021	a0001c0001 a0021c0018 a0001c0001 a0021c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0021c0018t0011	a0001c0001t0001g0010 a0001c0001t0001g0018 a0001c0001t0001g0040 others(13): Show a0001c0001t0001g0010 a0001c0001t0001g0018 a0001c0001t0001g0040 a0001c0001t0001g0095 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0002g0194 a0001c0001t0002g0317 a0001c0001t0003g0197 a0001c0001t0003g0214 a0001c0001t0003g0233 a0001c0001t0003g0236 a0001c0001t0003g0360 a0021c0018t0011g0041	16	368	0.0435	19	c.188 others(36): Show c.1882-252_1882-234dupAAAAAAAAAAAAAAAAAAA	HEATR4	ENSG00000187105.9	transcript	ENST00000553558.6	protein_coding	9/17			chr14	TogoVar
HEATR4_chr14_73473484_73563947	73524304	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0059 a0001c0002t0001g0059	1	368	0.0027	19	c.-72 others(36): Show c.-72-1081_-72-1080insATATATATATATATATATA	HEATR4	ENSG00000187105.9	transcript	ENST00000553558.6	protein_coding	2/17			chr14	TogoVar
HEATR5B_chr2_36975895_37089372	37082086	T T	TTTTTTTT others(12): Show TTTTTTTTTTTTTTTTTTTC	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0212 a0001c0002t0001g0212	1	314	0.0032	19	c.126 others(36): Show c.126+1202_126+1203insGAAAAAAAAAAAAAAAAAA	HEATR5B	ENSG00000008869.12	transcript	ENST00000233099.6	protein_coding	2/35			chr2	TogoVar
HECTD1_chr14_31095117_31212793	31134042	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02074.hp2 HG02723.hp2 others(10): Show HG00621.hp2 HG02074.hp2 HG02723.hp2 HG03098.hp2 HG03942.hp2 HG04115.hp2 NA18963.hp2 NA18977.hp1 NA18987.hp2 NA19057.hp2 NA19076.hp1 NA19080.hp2 NA19088.hp1	a0001 a0010 a0001 a0010	a0001c0002 a0001c0003 a0001c0010 others(2): Show a0001c0002 a0001c0003 a0001c0010 a0001c0035 a0010c0032	a0001c0002t0001 a0001c0003t0001 a0001c0010t0004 others(2): Show a0001c0002t0001 a0001c0003t0001 a0001c0010t0004 a0001c0035t0001 a0010c0032t0001	a0001c0002t0001g0052 a0001c0002t0001g0057 a0001c0002t0001g0058 others(10): Show a0001c0002t0001g0052 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0068 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0078 a0001c0002t0001g0085 a0001c0002t0001g0090 a0001c0003t0001g0282 a0001c0010t0004g0016 a0001c0035t0001g0063 a0010c0032t0001g0086	13	342	0.0380	19	c.357 others(36): Show c.3579-368_3579-367insTTTTTTTTTTTTTTTTTTT	HECTD1	ENSG00000092148.14	transcript	ENST00000399332.6	protein_coding	22/42			chr14	TogoVar
HECTD4_chr12_112155195_112387431	112155302	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0184 a0001c0002t0001g0184	1	270	0.0037	19	c.70 others(30): Show c.7084_*7085insAAAAAAAAAAAAAAAAAAA	HECTD4	ENSG00000173064.14	transcript	ENST00000682272.1	protein_coding		4892		chr12	TogoVar
HECTD4_chr12_112155195_112387431	112323969	C C	CTTTCTTT others(12): Show CTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0065 a0001c0001t0004g0065	1	270	0.0037	19	c.178 others(36): Show c.178-4228_178-4227insAAAGAAAGAAAGAAAGAAA	HECTD4	ENSG00000173064.14	transcript	ENST00000682272.1	protein_coding	1/75			chr12	TogoVar
HELT_chr4_185013490_185025953	185023078	T T	TCTCTCTC others(12): Show TCTCTCTCTCTCTCTCTCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18942.hp1 NA19007.hp1 NA19082.hp1 NA18942.hp1 NA19007.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	3	454	0.0066	19	c.23 others(30): Show c.2306_*2307insCTCTCTCTCTCTCTCTCCC	HELT	ENSG00000187821.9	transcript	ENST00000515777.6	protein_coding		2126		chr4	TogoVar
HELZ_chr17_67065444_67250196	67089647	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0232 a0001c0001t0011g0232	1	274	0.0037	19	c.524 others(38): Show c.5242-2567_5242-2566insTATATATATATATATATAT	HELZ	ENSG00000198265.12	transcript	ENST00000358691.10	protein_coding	31/32			chr17	TogoVar
HELZ_chr17_67065444_67250196	67212314	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03453.hp2 HG02895.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0045 a0001c0001t0004 a0001c0001t0045	a0001c0001t0004g0253 a0001c0001t0045g0010 a0001c0001t0004g0253 a0001c0001t0045g0010	2	274	0.0073	19	c.247 others(36): Show c.247+3566_247+3584dupTTTTTTTTTTTTTTTTTTT	HELZ	ENSG00000198265.12	transcript	ENST00000358691.10	protein_coding	5/32			chr17	TogoVar
HEMK1_chr3_50564522_50601166	50591697	T T	TGTGTGTG others(12): Show TGTGTGTGTGTGTGTGTGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0112 a0001c0002t0112	a0001c0002t0112g0002 a0001c0002t0112g0002	1	320	0.0031	19	c.11 others(32): Show c.11280_*11281insGTGTGTGTGTGTGTGTGTG	HEMK1	ENSG00000114735.10	transcript	ENST00000232854.9	protein_coding	11/11	11281		chr3	TogoVar
HEPHL1_chr11_94016354_94119208	94042875	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02895.hp1 HG02897.hp1 others(3): Show HG01891.hp2 HG02895.hp1 HG02897.hp1 HG06807.hp1 NA18906.hp1 NA20300.hp1	a0004 a0023 a0004 a0023	a0004c0004 a0023c0014 a0004c0004 a0023c0014	a0004c0004t0001 a0023c0014t0004 a0004c0004t0001 a0023c0014t0004	a0004c0004t0001g0355 a0004c0004t0001g0356 a0004c0004t0001g0357 others(3): Show a0004c0004t0001g0355 a0004c0004t0001g0356 a0004c0004t0001g0357 a0004c0004t0001g0360 a0004c0004t0001g0362 a0023c0014t0004g0361	6	368	0.0163	19	c.171 others(36): Show c.171-2780_171-2779insAAAAAAAAAAAAAAAAAAA	HEPHL1	ENSG00000181333.12	transcript	ENST00000315765.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
HEPHL1_chr11_94016354_94119208	94042882	A A	AAAAAAAA others(12): Show AAAAAAAACAAAAAACAAAC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02647.hp1 HG02809.hp2 others(4): Show HG02615.hp2 HG02647.hp1 HG02809.hp2 HG02886.hp1 HG02922.hp2 HG03516.hp2 HG03540.hp1	a0002 a0013 a0002 a0013	a0002c0005 a0013c0030 a0002c0005 a0013c0030	a0002c0005t0004 a0013c0030t0004 a0002c0005t0004 a0013c0030t0004	a0002c0005t0004g0075 a0002c0005t0004g0076 a0002c0005t0004g0077 others(4): Show a0002c0005t0004g0075 a0002c0005t0004g0076 a0002c0005t0004g0077 a0002c0005t0004g0078 a0002c0005t0004g0079 a0002c0005t0004g0080 a0013c0030t0004g0074	7	368	0.0190	19	c.171 others(36): Show c.171-2784_171-2783insCAAAAAACAAACAAAAAAA	HEPHL1	ENSG00000181333.12	transcript	ENST00000315765.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
HEPHL1_chr11_94016354_94119208	94094014	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp2 NA18998.hp1 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0169 a0001c0001t0001g0007 a0001c0001t0001g0169	2	368	0.0054	19	c.243 others(36): Show c.2434+374_2434+375insTATATATATATATATATAT	HEPHL1	ENSG00000181333.12	transcript	ENST00000315765.10	protein_coding	13/19			chr11	TogoVar
HEPH_chrX_66159247_66272389	66200273	T T	TGTGTGTG others(12): Show TGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0079 a0001c0010t0001g0079	1	218	0.0046	19	c.186 others(36): Show c.1865-267_1865-266insGTGTGTGTGTGTGTGTGTG	HEPH	ENSG00000089472.18	transcript	ENST00000343002.7	protein_coding	11/20			chrX	TogoVar
HERC1_chr15_63603618_63838948	63720103	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03195.hp2 HG03516.hp1 HG02559.hp2 HG03195.hp2 HG03516.hp1	a0004 a0004	a0004c0014 a0004c0014	a0004c0014t0001 a0004c0014t0001	a0004c0014t0001g0021 a0004c0014t0001g0022 a0004c0014t0001g0069 a0004c0014t0001g0021 a0004c0014t0001g0022 a0004c0014t0001g0069	3	216	0.0139	19	c.374 others(38): Show c.3743-1207_3743-1206insAAAAAAAAAAAAAAAAAAA	HERC1	ENSG00000103657.14	transcript	ENST00000443617.7	protein_coding	19/77			chr15	TogoVar
HERC1_chr15_63603618_63838948	63737489	T T	TATATATA others(12): Show TATATATATCTTTTTTCCAG	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0079 a0002c0003t0001g0079	1	216	0.0046	19	c.252 others(38): Show c.2521-2641_2521-2640insCTGGAAAAAAGATATATAT	HERC1	ENSG00000103657.14	transcript	ENST00000443617.7	protein_coding	12/77			chr15	TogoVar
HERC1_chr15_63603618_63838948	63826802	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0144 a0001c0008t0001g0144	1	216	0.0046	19	c.-27 others(36): Show c.-27+7024_-27+7025insATATATATATATATATATA	HERC1	ENSG00000103657.14	transcript	ENST00000443617.7	protein_coding	1/77			chr15	TogoVar
HERC1_chr15_63603618_63838948	63826806	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	216	0.0046	19	c.-27 others(36): Show c.-27+7020_-27+7021insATATATATATATATATATA	HERC1	ENSG00000103657.14	transcript	ENST00000443617.7	protein_coding	1/77			chr15	TogoVar
HERC2_chr15_28106040_28327179	28146402	A A	AAACAGTG others(12): Show AAACAGTGCACCAAGGAGTT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01257.hp1 HG02055.hp1 others(9): Show HG01099.hp2 HG01257.hp1 HG02055.hp1 HG02145.hp2 HG02559.hp1 HG02723.hp2 HG03130.hp1 HG03139.hp2 HG03209.hp1 HG03516.hp2 HG03540.hp2 NA18906.hp2	a0004 a0006 a0010 a0004 a0006 a0010	a0004c0006 a0006c0018 a0010c0019 a0004c0006 a0006c0018 a0010c0019	a0004c0006t0002 a0004c0006t0004 a0006c0018t0001 others(2): Show a0004c0006t0002 a0004c0006t0004 a0006c0018t0001 a0006c0018t0005 a0010c0019t0002	a0004c0006t0002g0191 a0004c0006t0002g0192 a0004c0006t0002g0193 others(9): Show a0004c0006t0002g0191 a0004c0006t0002g0192 a0004c0006t0002g0193 a0004c0006t0002g0194 a0004c0006t0002g0195 a0004c0006t0002g0197 a0004c0006t0002g0199 a0004c0006t0002g0200 a0004c0006t0004g0196 a0006c0018t0001g0093 a0006c0018t0005g0248 a0010c0019t0002g0198	12	250	0.0480	19	c.109 others(36): Show c.10901-59_10901-58insAACTCCTTGGTGCACTGTT	HERC2	ENSG00000128731.18	transcript	ENST00000261609.13	protein_coding	70/92			chr15	TogoVar
HERC4_chr10_67916905_68080283	68059781	A A	ATTATATA others(12): Show ATTATATATCATAATATTAT	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	360	0.0028	19	c.226 others(38): Show c.226+13101_226+13102insATAATATTATGATATATAA	HERC4	ENSG00000148634.16	transcript	ENST00000373700.9	protein_coding	3/24			chr10	TogoVar
HERC4_chr10_67916905_68080283	68059811	A A	ATTATATA others(12): Show ATTATATATCATAATATTAT	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0062 a0001c0001t0006g0062	1	360	0.0028	19	c.226 others(38): Show c.226+13071_226+13072insATAATATTATGATATATAA	HERC4	ENSG00000148634.16	transcript	ENST00000373700.9	protein_coding	3/24			chr10	TogoVar

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