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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
GSG1L_chr16_27782528_28068714	27947540	GGAAAGAA others(29): Show GGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00423.hp1 HG00639.hp2 others(36): Show HG00099.hp2 HG00423.hp1 HG00639.hp2 HG00673.hp1 HG00733.hp1 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01168.hp2 HG01169.hp1 HG01256.hp2 HG01361.hp1 HG01891.hp2 HG01934.hp2 HG01978.hp2 HG02027.hp2 HG02132.hp1 HG02132.hp2 HG02257.hp2 HG02258.hp2 HG02622.hp2 HG02809.hp1 HG02895.hp1 HG02896.hp1 HG02922.hp1 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03471.hp2 HG03490.hp1 HG03492.hp2 HG03704.hp2 HG04184.hp1 NA18939.hp1 NA18946.hp1 NA18983.hp2 NA19084.hp2 NA20300.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 others(10): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0008 a0001c0002t0011 a0001c0002t0012 a0001c0002t0013 a0001c0002t0022	a0001c0001t0002g0179 a0001c0002t0001g0010 a0001c0002t0001g0030 others(36): Show a0001c0001t0002g0179 a0001c0002t0001g0010 a0001c0002t0001g0030 a0001c0002t0001g0053 a0001c0002t0001g0059 a0001c0002t0001g0069 a0001c0002t0001g0079 a0001c0002t0001g0097 a0001c0002t0001g0110 a0001c0002t0001g0132 a0001c0002t0001g0203 a0001c0002t0001g0209 a0001c0002t0001g0212 a0001c0002t0002g0046 a0001c0002t0002g0098 a0001c0002t0002g0137 a0001c0002t0002g0157 a0001c0002t0002g0170 a0001c0002t0002g0188 a0001c0002t0002g0223 a0001c0002t0002g0233 a0001c0002t0003g0076 a0001c0002t0003g0118 a0001c0002t0003g0134 a0001c0002t0004g0017 a0001c0002t0004g0113 a0001c0002t0004g0172 a0001c0002t0004g0210 a0001c0002t0005g0196 a0001c0002t0006g0071 a0001c0002t0006g0176 a0001c0002t0007g0135 a0001c0002t0007g0136 a0001c0002t0008g0213 a0001c0002t0011g0052 a0001c0002t0012g0068 a0001c0002t0013g0087 a0001c0002t0022g0185 a0001c0002t0022g0211	39	240	0.1625	-36	c.397 others(55): Show c.397+15580_397+15615delTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTC		GSG1L	ENSG00000169181.13	transcript	ENST00000447459.7	protein_coding	2/6						chr16	TogoVar
GSTA1_chr6_52786371_52808816	52796469	ATATATAT others(29): Show ATATATATATATATATATATATGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01167.hp1 HG01169.hp2 others(3): Show HG00741.hp2 HG01167.hp1 HG01169.hp2 HG03139.hp2 HG03471.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0009 a0001c0001t0003g0066 a0001c0001t0003g0009 a0001c0001t0003g0066	6	436	0.0138	-36	c.140 others(51): Show c.140-191_140-156delCACACACACACACACATATATATATATATA TATATA		GSTA1	ENSG00000243955.6	transcript	ENST00000334575.6	protein_coding	3/6						chr6	TogoVar
GSTCD_chr4_105703784_105852725	105794823	TTATCTAT others(29): Show TTATCTATCTATCTATTTATCTATCTATCTATCTATC	T T	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0088 a0001c0002t0002g0088	1	186	0.0054	-36	c.124 others(57): Show c.1241-28115_1241-28080delTTATCTATCTATCTATCTATCTAT CTATCTATCTAT		GSTCD	ENSG00000138780.15	transcript	ENST00000515279.6	protein_coding	5/11					INFO_REALIGN_3_PRIME	chr4	TogoVar
GSTM4_chr1_109651099_109666700	109654081	AAAGAAAG others(29): Show AAAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0045 a0001c0001t0006g0045	1	364	0.0028	-36	c.-23 others(47): Show c.-2308_-2273delAAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAGAA AG		GSTM4	ENSG00000168765.19	transcript	ENST00000369836.9	protein_coding					2017		chr1	TogoVar
GTF3C1_chr16_27455613_27554913	27455878	GAAGCAGG others(29): Show GAAGCAGGCGCTTCCTTTAAACTCTCGACAGGAAAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18967.hp2 NA18993.hp1 NA19000.hp1 others(2): Show NA18967.hp2 NA18993.hp1 NA19000.hp1 NA19067.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 others(2): Show a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0001t0001g0061	5	220	0.0227	-36	c.54 others(47): Show c.5436_*5471delTCTTTCCTGTCGAGAGTTTAAAGGAAGCGCCTGC TT		GTF3C1	ENSG00000077235.18	transcript	ENST00000356183.9	protein_coding					4734		chr16	TogoVar
GTPBP6_chrX_299759_323796	300536	ATACATGT others(29): Show ATACATGTATATGTGTATGCATGTATATGTGTATGTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0023 a0023	a0023c0035 a0023c0035	a0023c0035t0004 a0023c0035t0004	a0023c0035t0004g0147 a0023c0035t0004g0147	1	155	0.0065	-36	c.45 others(47): Show c.4502_*4537delCACATACACATATACATGCATACACATATACATG TA		GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding					4222		chrX	TogoVar
GUCA2A_chr1_42157690_42169745	42167492	GGTGCGTG others(29): Show GGTGCGTGTGTGCTGAAGTGTGTGTATACACTGAGGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	436	0.0023	-36	c.-28 others(47): Show c.-2816_-2781delACCTCAGTGTATACACACACTTCAGCACACACGC AC		GUCA2A	ENSG00000197273.4	transcript	ENST00000357001.3	protein_coding					2748		chr1	TogoVar
GUCY1A2_chr11_106669019_107023476	106922662	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00544.hp2 HG02027.hp2 others(9): Show HG00438.hp2 HG00544.hp2 HG02027.hp2 HG02080.hp1 HG02083.hp1 HG02132.hp1 NA18954.hp1 NA18964.hp2 NA18975.hp1 NA18981.hp1 NA19003.hp2 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0038 a0001c0001t0072	a0001c0001t0001g0039 a0001c0001t0001g0068 a0001c0001t0001g0080 others(9): Show a0001c0001t0001g0039 a0001c0001t0001g0068 a0001c0001t0001g0080 a0001c0001t0001g0091 a0001c0001t0001g0097 a0001c0001t0002g0013 a0001c0001t0002g0082 a0001c0001t0002g0089 a0001c0001t0002g0093 a0001c0001t0007g0159 a0001c0001t0038g0092 a0001c0001t0072g0090	12	256	0.0469	-36	c.120 others(57): Show c.1206+16762_1206+16797delATATATATATATATATATATATAT ATATATATATAT		GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	4/7						chr11	TogoVar
GYG2_chrX_2823930_2887818	2845493	GTGTATGT others(29): Show GTGTATGTATATTTATATACACGTGTGTATGTATATT	G G	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01069.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	2	316	0.0063	-36	c.149 others(53): Show c.149+2141_149+2176delGTATGTATATTTATATACACGTGTGTAT GTATATTT		GYG2	ENSG00000056998.21	transcript	ENST00000398806.8	protein_coding	3/10					INFO_REALIGN_3_PRIME	chrX	TogoVar
GYS1_chr19_48963130_48998309	48979336	CTTTTTTT others(29): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02622.hp2 HG02647.hp1 others(6): Show HG01891.hp1 HG02622.hp2 HG02647.hp1 HG02896.hp2 HG02897.hp1 HG02970.hp1 HG02970.hp2 HG03139.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0019 a0001c0001 a0001c0005 a0001c0019	a0001c0001t0001 a0001c0005t0001 a0001c0005t0007 others(1): Show a0001c0001t0001 a0001c0005t0001 a0001c0005t0007 a0001c0019t0007	a0001c0001t0001g0011 a0001c0001t0001g0084 a0001c0001t0001g0085 others(5): Show a0001c0001t0001g0011 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0005t0001g0195 a0001c0005t0007g0031 a0001c0019t0007g0032	9	390	0.0231	-36	c.117 others(55): Show c.1170-1215_1170-1180delAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA		GYS1	ENSG00000104812.15	transcript	ENST00000323798.8	protein_coding	8/15						chr19	TogoVar
H6PD_chr1_9229774_9276337	9234727	CCCCCGCC others(29): Show CCCCCGCCGCGCGCGCCCCCGCCGCGCGCGCCCCCGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0011 a0011	a0011c0052 a0011c0052	a0011c0052t0069 a0011c0052t0069	a0011c0052t0069g0060 a0011c0052t0069g0060	1	404	0.0025	-36	c.-34 others(45): Show c.-349_-314delCCCCGCCGCGCGCGCCCCCGCCGCGCGCGCCCCCGG		H6PD	ENSG00000049239.13	transcript	ENST00000377403.7	protein_coding					46		chr1	TogoVar
H6PD_chr1_9229774_9276337	9258823	GTGTTGTT others(29): Show GTGTTGTTATGTTGTTGTTATGCTGGTGTTGTGTTAC	G G	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0256 a0001c0004t0005g0256	1	404	0.0025	-36	c.746 others(53): Show c.746-3216_746-3181delTGCTGGTGTTGTGTTACTGTTGTTATGT TGTTGTTA		H6PD	ENSG00000049239.13	transcript	ENST00000377403.7	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr1	TogoVar
HACE1_chr6_104723094_104864919	104831960	GAAGAGAA others(29): Show GAAGAGAAGAGAAGAGAAGAGAGGAAGGAAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG03453.hp1 NA18522.hp2 HG03453.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0148 a0001c0001t0001g0149	2	346	0.0058	-36	c.534 others(53): Show c.534+1046_534+1081delTCCTTCCTTCCTTCCTCTCTTCTCTTCT CTTCTCTT		HACE1	ENSG00000085382.12	transcript	ENST00000262903.9	protein_coding	6/23						chr6	TogoVar
HAP1_chr17_41717640_41739643	41735114	TGCTGCAA others(29): Show TGCTGCAACCCTGCCTGGCGCTGCAACCCTGCCTGGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG02109.hp1 HG01243.hp1 HG02109.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0005c0031 a0002c0002 a0005c0031	a0002c0002t0001 a0005c0031t0015 a0002c0002t0001 a0005c0031t0015	a0002c0002t0001g0067 a0005c0031t0015g0169 a0002c0002t0001g0067 a0005c0031t0015g0169	2	374	0.0054	-36	c.-51 others(45): Show c.-516_-481delGCCAGGCAGGGTTGCAGCGCCAGGCAGGGTTGCAGC		HAP1	ENSG00000173805.16	transcript	ENST00000347901.9	protein_coding					472		chr17	TogoVar
HAS1_chr19_51708112_51728991	51723735	GACCTGCA others(29): Show GACCTGCACACTCAGCCTCACATGCTCACTGTCCCCT	G G	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0162 a0002c0004t0003g0162	1	464	0.0022	-36	c.9+1 others(47): Show c.9+154_9+189delAGGGGACAGTGAGCATGTGAGGCTGAGTGTGCAG GT		HAS1	ENSG00000105509.11	transcript	ENST00000540069.7	protein_coding	1/4						chr19	TogoVar
HASPIN_chr17_3718903_3731699	3724096	TCGGCGAC others(29): Show TCGGCGACCCCTCGCAGTCCGACGATCCTGACGATCC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02647.hp2 HG02647.hp2	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0001 a0008c0009t0001	a0008c0009t0001g0000 a0008c0009t0001g0000	1	414	0.0024	-36	c.164 others(43): Show c.164_199delGCGACCCCTCGCAGTCCGACGATCCTGACGATCCCG	p.Gly others(11): Show p.Gly55_Pro66del	HASPIN	ENSG00000177602.5	transcript	ENST00000325418.5	protein_coding	1/1	197/2797	164/2397	55/798		INFO_REALIGN_3_PRIME	chr17	TogoVar
HAT1_chr2_171917461_171988686	171977535	ATATATAT others(29): Show ATATATATATATATATATATATATTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01123.hp2 NA21309.hp1 HG01123.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0259 a0001c0001t0001g0260	2	326	0.0061	-36	c.975 others(53): Show c.975+1229_975+1264delATATATATATATATATATATATTTTTTT TTTTTTTT		HAT1	ENSG00000128708.13	transcript	ENST00000264108.5	protein_coding	9/10					INFO_REALIGN_3_PRIME	chr2	TogoVar
HAUS1_chr18_46099385_46133333	46112310	ATATATAA others(29): Show ATATATAATATATATAATGTGTATATATATTCCATAT	A A	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0120 a0002c0004t0003g0120	1	372	0.0027	-36	c.206 others(53): Show c.206-5864_206-5829delATATATATAATGTGTATATATATTCCAT ATTATATA		HAUS1	ENSG00000152240.13	transcript	ENST00000282058.11	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr18	TogoVar
HAUS1_chr18_46099385_46133333	46112448	ATATATTC others(29): Show ATATATTCCATATTATATATATAATATATATAATGTG	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03486.hp1 HG02615.hp2 HG03486.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0281 a0004c0007t0001g0282 a0004c0007t0001g0281 a0004c0007t0001g0282	2	372	0.0054	-36	c.206 others(53): Show c.206-5727_206-5692delTCCATATTATATATATAATATATATAAT GTGTATAT		HAUS1	ENSG00000152240.13	transcript	ENST00000282058.11	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr18	TogoVar
HAUS8_chr19_17044729_17080452	17055129	AAAAAAAA others(29): Show AAAAAAAAAAAAAAAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0328 a0001c0004t0002g0328	1	400	0.0025	-36	c.787 others(51): Show c.787+696_787+731delATATATATATATATATATATATTTTTTTTT TTTTTT		HAUS8	ENSG00000131351.15	transcript	ENST00000253669.10	protein_coding	9/10						chr19	TogoVar
HAUS8_chr19_17044729_17080452	17055131	AAAAAAAA others(29): Show AAAAAAAAAAAAAATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0330 a0001c0004t0002g0330	1	400	0.0025	-36	c.787 others(51): Show c.787+694_787+729delATATATATATATATATATATATATTTTTTT TTTTTT		HAUS8	ENSG00000131351.15	transcript	ENST00000253669.10	protein_coding	9/10						chr19	TogoVar
HAVCR1_chr5_157024413_157064116	157044389	GAAGGAAG others(29): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAGAA	G G	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	352	0.0028	-36	c.782 others(53): Show c.782-1743_782-1708delTTCTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTT		HAVCR1	ENSG00000113249.14	transcript	ENST00000523175.6	protein_coding	5/8						chr5	TogoVar
HAX1_chr1_154267629_154280875	154279856	GCCAGGTG others(29): Show GCCAGGTGTGGTGGCGCATACCTGTAATCCCAGCTAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	392	0.0026	-36	c.41 others(47): Show c.4156_*4191delCCAGGTGTGGTGGCGCATACCTGTAATCCCAGCT AC		HAX1	ENSG00000143575.16	transcript	ENST00000328703.12	protein_coding					3982		chr1	TogoVar
HCN1_chr5_45249948_45701380	45372234	ATTATATT others(29): Show ATTATATTTTATATATAATATATATTTATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01071.hp1 HG01081.hp1 others(5): Show HG00099.hp2 HG01071.hp1 HG01081.hp1 HG01257.hp2 HG01934.hp2 HG01975.hp1 HG01978.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0009 a0001c0001t0037 a0001c0001t0003 a0001c0001t0009 a0001c0001t0037	a0001c0001t0003g0087 a0001c0001t0003g0093 a0001c0001t0003g0094 others(5): Show a0001c0001t0003g0087 a0001c0001t0003g0093 a0001c0001t0003g0094 a0001c0001t0003g0095 a0001c0001t0003g0104 a0001c0001t0003g0215 a0001c0001t0009g0002 a0001c0001t0037g0148	8	226	0.0354	-36	c.123 others(57): Show c.1231-19024_1231-18989delATATATATATAAATATATATTATA TATAAAATATAA		HCN1	ENSG00000164588.8	transcript	ENST00000303230.6	protein_coding	4/7						chr5	TogoVar
HCN1_chr5_45249948_45701380	45374270	TATTATAT others(29): Show TATTATATACATTATATACATTATATATATTGTATAC	T T	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0044 a0001c0001t0002g0044	1	226	0.0044	-36	c.123 others(57): Show c.1231-21060_1231-21025delGTATACAATATATATAATGTATAT AATGTATATAAT		HCN1	ENSG00000164588.8	transcript	ENST00000303230.6	protein_coding	4/7						chr5	TogoVar
HCN2_chr19_584881_622159	613608	CGGGGATG others(29): Show CGGGGATGGGGATGGGGATGGGGATGGGGCCGGGGAT	C C	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01255.hp2 HG02735.hp2 others(10): Show HG00597.hp1 HG01255.hp2 HG02735.hp2 HG03491.hp1 HG03492.hp2 NA18944.hp1 NA18948.hp1 NA18951.hp1 NA18962.hp1 NA18967.hp2 NA18979.hp2 NA18989.hp1 NA19091.hp2	a0001 a0001	a0001c0002 a0001c0024 a0001c0045 a0001c0002 a0001c0024 a0001c0045	a0001c0002t0003 a0001c0002t0004 a0001c0024t0003 others(1): Show a0001c0002t0003 a0001c0002t0004 a0001c0024t0003 a0001c0045t0003	a0001c0002t0003g0093 a0001c0002t0003g0094 a0001c0002t0003g0098 others(9): Show a0001c0002t0003g0093 a0001c0002t0003g0094 a0001c0002t0003g0098 a0001c0002t0003g0145 a0001c0002t0003g0148 a0001c0002t0003g0154 a0001c0002t0003g0162 a0001c0002t0003g0175 a0001c0002t0003g0225 a0001c0002t0004g0183 a0001c0024t0003g0167 a0001c0045t0003g0006	13	408	0.0319	-36	c.182 others(53): Show c.1825+137_1825+172delATGGGGATGGGGCCGGGGATGGGGATGG GGATGGGG		HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	6/7					INFO_REALIGN_3_PRIME	chr19	TogoVar
HCN2_chr19_584881_622159	613638	CGGGGATG others(29): Show CGGGGATGGGGATGGGGATGGGGCCGGGGATGGGGAT	C C	intron_variant intron_variant	MODIFIER	HG02809.hp1 NA19043.hp1 HG02809.hp1 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0016 a0001c0003 a0002c0016	a0001c0003t0006 a0002c0016t0006 a0001c0003t0006 a0002c0016t0006	a0001c0003t0006g0201 a0002c0016t0006g0292 a0001c0003t0006g0201 a0002c0016t0006g0292	2	408	0.0049	-36	c.182 others(53): Show c.1825+155_1826-174delATGGGGATGGGGATGGGGCCGGGGATGG GGATGGGG		HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	6/7					INFO_REALIGN_3_PRIME	chr19	TogoVar
HCN2_chr19_584881_622159	613644	TGGGGATG others(29): Show TGGGGATGGGGATGGGGCCGGGGATGGGGATGGGGCC	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02602.hp1 HG02965.hp2 others(10): Show HG02451.hp1 HG02602.hp1 HG02965.hp2 HG03098.hp1 HG03130.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03688.hp1 NA18522.hp2 NA18906.hp1 NA18944.hp2 NA18982.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0001c0007 others(6): Show a0001c0001 a0001c0006 a0001c0007 a0001c0008 a0001c0015 a0001c0018 a0001c0026 a0002c0004 a0002c0012	a0001c0001t0001 a0001c0001t0002 a0001c0006t0002 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0006t0002 a0001c0007t0001 a0001c0008t0002 a0001c0015t0004 a0001c0018t0002 a0001c0026t0002 a0002c0004t0002 a0002c0012t0002	a0001c0001t0001g0188 a0001c0001t0002g0016 a0001c0001t0002g0025 others(10): Show a0001c0001t0001g0188 a0001c0001t0002g0016 a0001c0001t0002g0025 a0001c0001t0002g0396 a0001c0006t0002g0020 a0001c0006t0002g0107 a0001c0007t0001g0193 a0001c0008t0002g0379 a0001c0015t0004g0021 a0001c0018t0002g0052 a0001c0026t0002g0057 a0002c0004t0002g0329 a0002c0012t0002g0346	13	408	0.0319	-36	c.182 others(53): Show c.1825+167_1826-162delATGGGGCCGGGGATGGGGATGGGGCCGG GGATGGGG		HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	6/7					INFO_REALIGN_3_PRIME	chr19	TogoVar
HDAC4_chr2_239043168_239406020	239101984	AGCCCTGG others(29): Show AGCCCTGGGTCCACGTTCTGTGCCCTGGAAGCCCCCG	A A	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA21309.hp2 NA20300.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0031 a0001c0003t0034 a0001c0001t0031 a0001c0003t0034	a0001c0001t0031g0092 a0001c0003t0034g0007 a0001c0001t0031g0092 a0001c0003t0034g0007	2	242	0.0083	-36	c.223 others(53): Show c.2233+756_2233+791delCGGGGGCTTCCAGGGCACAGAACGTGGA CCCAGGGC		HDAC4	ENSG00000068024.18	transcript	ENST00000543185.6	protein_coding	16/26						chr2	TogoVar
HDAC4_chr2_239043168_239406020	239282200	TACAATGT others(29): Show TACAATGTACACACCTCTCTACACAATGTACACACCA	T T	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0030 a0001c0002t0006g0030	1	242	0.0041	-36	c.23- others(53): Show c.23-45572_23-45537delTGGTGTGTACATTGTGTAGAGAGGTGTG TACATTGT		HDAC4	ENSG00000068024.18	transcript	ENST00000543185.6	protein_coding	2/26						chr2	TogoVar
HDAC9_chr7_18490749_19007416	18732816	CGTGTGTA others(29): Show CGTGTGTATGTGTGCGTATGTGTACACACACGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03453.hp1 NA18986.hp1 HG02886.hp1 HG03453.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0036 a0001c0001t0043 a0001c0001t0019 a0001c0001t0036 a0001c0001t0043	a0001c0001t0019g0114 a0001c0001t0036g0136 a0001c0001t0043g0038 a0001c0001t0019g0114 a0001c0001t0036g0136 a0001c0001t0043g0038	3	156	0.0192	-36	c.190 others(55): Show c.1909+5060_1909+5095delGTGTGTATGTGTGCGTATGTGTACAC ACACGTGTGT		HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	13/25						chr7	TogoVar
HDGFL1_chr6_22564566_22576666	22576522	GATATATA others(29): Show GATATATATATATATATATATATATATATATATATAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 NA18974.hp2 NA18991.hp1 others(2): Show HG00609.hp1 NA18974.hp2 NA18991.hp1 NA19058.hp2 NA19062.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0015 a0001c0001t0001 a0002c0002t0015	a0001c0001t0001g0000 a0002c0002t0015g0000 a0001c0001t0001g0000 a0002c0002t0015g0000	5	432	0.0116	-36	c.61 others(47): Show c.6192_*6227delATATATATATATATATATATATATATATATATAT AT		HDGFL1	ENSG00000112273.7	transcript	ENST00000510882.4	protein_coding					4857		chr6	TogoVar
HEATR4_chr14_73473484_73563947	73509810	CCATATAT others(29): Show CCATATATATATATATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02572.hp1 HG02809.hp2 HG01109.hp1 HG02572.hp1 HG02809.hp2	a0001 a0004 a0001 a0004	a0001c0003 a0004c0012 a0001c0003 a0004c0012	a0001c0003t0003 a0001c0003t0013 a0004c0012t0004 a0001c0003t0003 a0001c0003t0013 a0004c0012t0004	a0001c0003t0003g0247 a0001c0003t0013g0140 a0004c0012t0004g0172 a0001c0003t0003g0247 a0001c0003t0013g0140 a0004c0012t0004g0172	3	368	0.0082	-36	c.155 others(53): Show c.1559-373_1559-338delTATATATATATATATATATATATATATA TATATATG		HEATR4	ENSG00000187105.9	transcript	ENST00000553558.6	protein_coding	7/17						chr14	TogoVar
HEATR5A_chr14_31286788_31425550	31336213	CATACATA others(29): Show CATACATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA19009.hp1 NA19057.hp1 others(2): Show NA18983.hp1 NA19009.hp1 NA19057.hp1 NA19060.hp2 NA19068.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0121 a0002c0002t0001g0126 a0002c0002t0001g0133 others(2): Show a0002c0002t0001g0121 a0002c0002t0001g0126 a0002c0002t0001g0133 a0002c0002t0001g0134 a0002c0002t0001g0135	5	354	0.0141	-36	c.336 others(55): Show c.3367+1227_3367+1262delATATATATATATATATATATATATAT ATATATGTAT		HEATR5A	ENSG00000129493.15	transcript	ENST00000543095.7	protein_coding	22/35						chr14	TogoVar
HEATR5A_chr14_31286788_31425550	31407580	TTATTTAT others(29): Show TTATTTATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp1 HG00438.hp1 others(66): Show HG00140.hp1 HG00423.hp1 HG00438.hp1 HG00609.hp2 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG01081.hp1 HG01109.hp1 HG01175.hp2 HG01255.hp1 HG01257.hp1 HG02040.hp2 HG02080.hp1 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02155.hp1 HG02155.hp2 HG02683.hp2 HG02698.hp1 HG02735.hp2 HG03195.hp2 HG03492.hp1 HG03654.hp1 HG03669.hp1 HG03710.hp2 HG03834.hp1 HG03927.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp2 NA18612.hp2 NA18747.hp1 NA18943.hp2 NA18945.hp1 NA18947.hp1 NA18954.hp2 NA18961.hp2 NA18967.hp2 NA18971.hp1 NA18972.hp1 NA18975.hp1 NA18977.hp2 NA18978.hp1 NA18982.hp1 NA18986.hp1 NA18987.hp1 NA18988.hp1 NA18991.hp1 NA18994.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19004.hp2 NA19012.hp2 NA19054.hp2 NA19058.hp1 NA19060.hp1 NA19062.hp1 NA19064.hp2 NA19074.hp1 NA19081.hp1 NA19086.hp1 NA19086.hp2 NA19089.hp1 NA20905.hp1	a0001 a0003 a0005 others(2): Show a0001 a0003 a0005 a0006 a0020	a0001c0001 a0001c0015 a0001c0031 others(4): Show a0001c0001 a0001c0015 a0001c0031 a0003c0003 a0005c0005 a0006c0007 a0020c0030	a0001c0001t0001 a0001c0001t0004 a0001c0001t0016 others(7): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0016 a0001c0001t0023 a0001c0015t0001 a0001c0031t0001 a0003c0003t0001 a0005c0005t0002 a0006c0007t0001 a0020c0030t0001	a0001c0001t0001g0122 a0001c0001t0001g0197 a0001c0001t0001g0260 others(66): Show a0001c0001t0001g0122 a0001c0001t0001g0197 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0266 a0001c0001t0001g0269 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0286 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0314 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0004g0257 a0001c0001t0004g0270 a0001c0001t0004g0296 a0001c0001t0016g0280 a0001c0001t0016g0287 a0001c0001t0023g0307 a0001c0015t0001g0271 a0001c0015t0001g0308 a0001c0031t0001g0258 a0003c0003t0001g0268 a0005c0005t0002g0259 a0006c0007t0001g0014 a0006c0007t0001g0015 a0006c0007t0001g0263 a0006c0007t0001g0265 a0006c0007t0001g0267 a0006c0007t0001g0272 a0006c0007t0001g0315 a0006c0007t0001g0316 a0006c0007t0001g0317 a0006c0007t0001g0318 a0006c0007t0001g0319 a0020c0030t0001g0285	69	354	0.1949	-36	c.-74 others(53): Show c.-74-4567_-74-4532delTATATATATATATATATATATATATATA TATAAATA		HEATR5A	ENSG00000129493.15	transcript	ENST00000543095.7	protein_coding	1/35						chr14	TogoVar
HEATR6_chr17_60036008_60083921	60042801	CGTCCTGT others(29): Show CGTCCTGTGTGGCTGTGAGGCACCGTCAGCATCCTCG	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0075 a0001c0001t0075	a0001c0001t0075g0167 a0001c0001t0075g0167	1	250	0.0040	-36	c.72 others(45): Show c.726_*761delCGAGGATGCTGACGGTGCCTCACAGCCACACAGGAC		HEATR6	ENSG00000068097.16	transcript	ENST00000184956.11	protein_coding	20/20				726		chr17	TogoVar
HEATR6_chr17_60036008_60083921	60042874	CGTCCTGT others(29): Show CGTCCTGTGTGGCTGTGAGGCACCGTCAGCATCCTCG	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0033 a0003c0003t0033	a0003c0003t0033g0176 a0003c0003t0033g0176	1	250	0.0040	-36	c.65 others(45): Show c.653_*688delCGAGGATGCTGACGGTGCCTCACAGCCACACAGGAC		HEATR6	ENSG00000068097.16	transcript	ENST00000184956.11	protein_coding	20/20				653		chr17	TogoVar
HEATR6_chr17_60036008_60083921	60043044	CGTCAGCA others(29): Show CGTCAGCATCCTCGGTCCTGTGCGGCTGTGAGGCACT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0033 a0003c0003t0033	a0003c0003t0033g0176 a0003c0003t0033g0176	1	250	0.0040	-36	c.48 others(45): Show c.483_*518delAGTGCCTCACAGCCGCACAGGACCGAGGATGCTGAC		HEATR6	ENSG00000068097.16	transcript	ENST00000184956.11	protein_coding	20/20				483		chr17	TogoVar
HECTD1_chr14_31095117_31212793	31179097	CTTATAAA others(29): Show CTTATAAAGCATAAGTAATAGCTAAATAACACCTACT	C C	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0035 a0001c0035	a0001c0035t0001 a0001c0035t0001	a0001c0035t0001g0063 a0001c0035t0001g0063	1	342	0.0029	-36	c.141 others(51): Show c.141-879_141-844delAGTAGGTGTTATTTAGCTATTACTTATGCT TTATAA		HECTD1	ENSG00000092148.14	transcript	ENST00000399332.6	protein_coding	2/42						chr14	TogoVar
HECTD4_chr12_112155195_112387431	112323949	TCTTTCTT others(29): Show TCTTTCTTTCTTTCTTTCTTCCTTCCTTCCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	270	0.0037	-36	c.178 others(53): Show c.178-4243_178-4208delGAAGGAAGGAAGGAAGGAAGAAAGAAAG AAAGAAAG		HECTD4	ENSG00000173064.14	transcript	ENST00000682272.1	protein_coding	1/75						chr12	TogoVar
HECW1_chr7_43107647_43571001	43429289	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 NA18948.hp2 NA18971.hp1 HG00408.hp2 NA18948.hp2 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0025 a0001c0001 a0001c0025	a0001c0001t0002 a0001c0001t0024 a0001c0025t0031 a0001c0001t0002 a0001c0001t0024 a0001c0025t0031	a0001c0001t0002g0045 a0001c0001t0024g0070 a0001c0025t0031g0032 a0001c0001t0002g0045 a0001c0001t0024g0070 a0001c0025t0031g0032	3	182	0.0165	-36	c.802 others(53): Show c.802-8702_802-8667delTATATATATATATATATATATATATATA TATATATA		HECW1	ENSG00000002746.15	transcript	ENST00000395891.7	protein_coding	8/29					INFO_REALIGN_3_PRIME	chr7	TogoVar
HECW1_chr7_43107647_43571001	43488324	GAGGAAGG others(29): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0031 a0001c0025t0031	a0001c0025t0031g0032 a0001c0025t0031g0032	1	182	0.0055	-36	c.323 others(55): Show c.3235-3709_3235-3674delGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAA		HECW1	ENSG00000002746.15	transcript	ENST00000395891.7	protein_coding	17/29					INFO_REALIGN_3_PRIME	chr7	TogoVar
HELZ_chr17_67065444_67250196	67125286	CTATATAT others(29): Show CTATATATATATATATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG00558.hp1 others(75): Show HG00280.hp1 HG00408.hp2 HG00558.hp1 HG00597.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01192.hp2 HG01256.hp2 HG01346.hp1 HG01358.hp2 HG01433.hp2 HG01515.hp1 HG01934.hp2 HG01981.hp2 HG02109.hp1 HG02135.hp2 HG02273.hp1 HG02300.hp2 HG02698.hp1 HG02735.hp1 HG02809.hp1 HG02818.hp2 HG02895.hp2 HG02896.hp1 HG03098.hp1 HG03209.hp1 HG03239.hp2 HG03490.hp2 HG03491.hp1 HG03540.hp2 HG03654.hp1 HG03704.hp1 HG03710.hp2 HG03831.hp1 HG03927.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp2 NA18612.hp2 NA18942.hp1 NA18963.hp1 NA18964.hp2 NA18970.hp1 NA18971.hp2 NA18975.hp1 NA18980.hp2 NA18982.hp1 NA18989.hp2 NA18994.hp1 NA18998.hp1 NA19000.hp1 NA19002.hp2 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19030.hp2 NA19054.hp1 NA19064.hp1 NA19066.hp2 NA19074.hp1 NA19079.hp1 NA19080.hp2 NA19081.hp2 NA19085.hp2 NA19088.hp2 NA19090.hp2 NA19240.hp2 NA20752.hp1 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0010 a0013 a0001 a0010 a0013	a0001c0001 a0001c0012 a0001c0013 others(2): Show a0001c0001 a0001c0012 a0001c0013 a0010c0018 a0013c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0015 a0001c0001t0029 a0001c0001t0049 a0001c0001t0054 a0001c0001t0056 a0001c0001t0057 a0001c0001t0059 a0001c0001t0060 a0001c0012t0001 a0001c0013t0001 a0010c0018t0001 a0013c0014t0006	a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0175 others(75): Show a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0198 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0002g0217 a0001c0001t0006g0202 a0001c0001t0006g0229 a0001c0001t0006g0247 a0001c0001t0006g0249 a0001c0001t0006g0250 a0001c0001t0006g0251 a0001c0001t0007g0158 a0001c0001t0007g0159 a0001c0001t0007g0161 a0001c0001t0007g0162 a0001c0001t0008g0171 a0001c0001t0008g0178 a0001c0001t0008g0188 a0001c0001t0008g0210 a0001c0001t0008g0218 a0001c0001t0008g0240 a0001c0001t0008g0246 a0001c0001t0010g0174 a0001c0001t0010g0199 a0001c0001t0010g0200 a0001c0001t0010g0201 a0001c0001t0010g0233 a0001c0001t0011g0181 a0001c0001t0011g0189 a0001c0001t0011g0208 a0001c0001t0011g0232 a0001c0001t0011g0248 a0001c0001t0015g0196 a0001c0001t0029g0214 a0001c0001t0029g0219 a0001c0001t0049g0091 a0001c0001t0054g0193 a0001c0001t0056g0146 a0001c0001t0057g0221 a0001c0001t0059g0226 a0001c0001t0060g0228 a0001c0012t0001g0194 a0001c0013t0001g0179 a0010c0018t0001g0204 a0013c0014t0006g0215	78	274	0.2847	-36	c.338 others(55): Show c.3388-1308_3388-1273delTATATATATATATATATATATATATA TATATATATA		HELZ	ENSG00000198265.12	transcript	ENST00000358691.10	protein_coding	24/32						chr17	TogoVar
HEPHL1_chr11_94016354_94119208	94060092	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00323.hp2 others(171): Show HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00738.hp2 HG00741.hp2 HG01070.hp1 HG01071.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01261.hp1 HG01346.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02683.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02818.hp2 HG02895.hp2 HG02970.hp2 HG03017.hp1 HG03041.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03453.hp2 HG03486.hp2 HG03490.hp1 HG03492.hp1 HG03516.hp1 HG03540.hp2 HG03654.hp2 HG03669.hp1 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04228.hp1 NA18522.hp1 NA18747.hp1 NA18940.hp2 NA18944.hp2 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp2 NA18955.hp2 NA18957.hp2 NA18961.hp2 NA18962.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18968.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18990.hp2 NA18991.hp2 NA18992.hp1 NA18994.hp1 NA18997.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19003.hp2 NA19005.hp1 NA19011.hp1 NA19030.hp1 NA19056.hp2 NA19057.hp2 NA19060.hp2 NA19062.hp2 NA19064.hp1 NA19065.hp1 NA19066.hp2 NA19067.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19077.hp1 NA19086.hp1 NA19086.hp2 NA19089.hp2 NA20129.hp1 NA20300.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0009 others(5): Show a0001 a0003 a0009 a0010 a0011 a0014 a0016 a0017	a0001c0001 a0001c0006 a0001c0007 others(13): Show a0001c0001 a0001c0006 a0001c0007 a0001c0016 a0001c0018 a0001c0023 a0001c0025 a0001c0027 a0001c0033 a0003c0003 a0009c0034 a0010c0032 a0011c0031 a0014c0026 a0016c0024 a0017c0022	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0014 a0001c0001t0016 a0001c0001t0019 a0001c0006t0006 a0001c0007t0004 a0001c0016t0002 a0001c0018t0002 a0001c0023t0001 a0001c0025t0001 a0001c0027t0002 a0001c0033t0001 a0003c0003t0003 a0009c0034t0003 a0010c0032t0001 a0011c0031t0001 a0014c0026t0001 a0016c0024t0002 a0017c0022t0015	a0001c0001t0001g0006 a0001c0001t0001g0026 a0001c0001t0001g0055 others(169): Show a0001c0001t0001g0006 a0001c0001t0001g0026 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0194 a0001c0001t0001g0261 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0324 a0001c0001t0001g0327 a0001c0001t0001g0329 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0001g0349 a0001c0001t0001g0350 a0001c0001t0001g0351 a0001c0001t0001g0352 a0001c0001t0002g0027 a0001c0001t0002g0029 a0001c0001t0002g0035 a0001c0001t0002g0037 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0046 a0001c0001t0002g0049 a0001c0001t0002g0051 a0001c0001t0002g0063 a0001c0001t0002g0116 a0001c0001t0002g0129 a0001c0001t0002g0149 a0001c0001t0002g0259 a0001c0001t0002g0263 a0001c0001t0002g0276 a0001c0001t0002g0283 a0001c0001t0002g0295 a0001c0001t0002g0301 a0001c0001t0002g0345 a0001c0001t0002g0347 a0001c0001t0002g0348 a0001c0001t0003g0003 a0001c0001t0003g0004 a0001c0001t0003g0050 a0001c0001t0003g0103 a0001c0001t0003g0127 a0001c0001t0003g0147 a0001c0001t0003g0162 a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0003g0188 a0001c0001t0003g0189 a0001c0001t0003g0190 a0001c0001t0003g0191 a0001c0001t0003g0193 a0001c0001t0003g0230 a0001c0001t0003g0236 a0001c0001t0003g0251 a0001c0001t0003g0252 a0001c0001t0003g0253 a0001c0001t0003g0254 a0001c0001t0003g0256 a0001c0001t0003g0264 a0001c0001t0003g0265 a0001c0001t0003g0266 a0001c0001t0003g0267 a0001c0001t0003g0268 a0001c0001t0003g0269 a0001c0001t0003g0270 a0001c0001t0003g0271 a0001c0001t0003g0272 a0001c0001t0003g0273 a0001c0001t0003g0275 a0001c0001t0003g0281 a0001c0001t0003g0291 a0001c0001t0003g0297 a0001c0001t0003g0298 a0001c0001t0003g0299 a0001c0001t0005g0085 a0001c0001t0005g0302 a0001c0001t0005g0328 a0001c0001t0007g0130 a0001c0001t0007g0289 a0001c0001t0007g0290 a0001c0001t0008g0300 a0001c0001t0009g0024 a0001c0001t0009g0284 a0001c0001t0009g0285 a0001c0001t0009g0286 a0001c0001t0014g0065 a0001c0001t0014g0066 a0001c0001t0016g0235 a0001c0001t0019g0262 a0001c0006t0006g0132 a0001c0006t0006g0303 a0001c0007t0004g0023 a0001c0016t0002g0036 a0001c0018t0002g0025 a0001c0023t0001g0131 a0001c0025t0001g0354 a0001c0027t0002g0258 a0001c0033t0001g0330 a0003c0003t0003g0183 a0003c0003t0003g0323 a0009c0034t0003g0249 a0010c0032t0001g0260 a0011c0031t0001g0124 a0014c0026t0001g0353 a0016c0024t0002g0142 a0017c0022t0015g0048	174	368	0.4728	-36	c.416 others(53): Show c.416-3393_416-3358delTATATATATATATATATATATATATATA TATATATA		HEPHL1	ENSG00000181333.12	transcript	ENST00000315765.10	protein_coding	2/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
HEPHL1_chr11_94016354_94119208	94115572	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp2 HG01884.hp1 HG03041.hp2 others(1): Show HG01074.hp2 HG01884.hp1 HG03041.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0017 a0001c0001t0007g0130 a0001c0001t0007g0289 others(1): Show a0001c0001t0007g0017 a0001c0001t0007g0130 a0001c0001t0007g0289 a0001c0001t0007g0290	4	368	0.0109	-36	c.36 others(47): Show c.3679_*3714delATATATATATATATATATATATATATATATATAT AT		HEPHL1	ENSG00000181333.12	transcript	ENST00000315765.10	protein_coding					1365		chr11	TogoVar
HERC2_chr15_28106040_28327179	28301729	GTATGTGT others(29): Show GTATGTGTATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0035 a0003c0004t0002g0035	1	250	0.0040	-36	c.73- others(51): Show c.73-2249_73-2214delTATATATATATATATATATATATATATATA CACATA		HERC2	ENSG00000128731.18	transcript	ENST00000261609.13	protein_coding	2/92						chr15	TogoVar
HERC3_chr4_88587480_88713539	88708226	GAGTAAGA others(29): Show GAGTAAGAAAATTCTACATGATTAAAGAATCCATGTA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0192 a0001c0001t0019g0192	1	296	0.0034	-36	c.12 others(47): Show c.1270_*1305delAAGAAAATTCTACATGATTAAAGAATCCATGTAA GT		HERC3	ENSG00000138641.18	transcript	ENST00000402738.6	protein_coding	26/26				1270	INFO_REALIGN_3_PRIME	chr4	TogoVar
HERC6_chr4_88373852_88448097	88379954	AATATATA others(29): Show AATATATATAATATATAAATATATATAATATATAAAT	A A	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	174	0.0058	-36	c.199 others(51): Show c.199+878_199+913delTAATATATAAATATATATAATATATAAATA TATATA		HERC6	ENSG00000138642.16	transcript	ENST00000264346.12	protein_coding	1/22					INFO_REALIGN_3_PRIME	chr4	TogoVar
HERPUD2_chr7_35627659_35700135	35682214	TGTGTGTG others(29): Show TGTGTGTGTGTATATATAGATATATACACATACACAC	T T	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	392	0.0026	-36	c.148 others(53): Show c.148-8972_148-8937delGTGTGTATGTGTATATATCTATATATAC ACACACAC		HERPUD2	ENSG00000122557.11	transcript	ENST00000311350.8	protein_coding	2/8						chr7	TogoVar
HERPUD2_chr7_35627659_35700135	35682290	TGTGTGTG others(29): Show TGTGTGTGTGTATATATAGATATATACACATACACAC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02922.hp1 HG03209.hp1 others(1): Show HG01109.hp2 HG02922.hp1 HG03209.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 others(1): Show a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107	4	392	0.0102	-36	c.148 others(53): Show c.148-9048_148-9013delGTGTGTATGTGTATATATCTATATATAC ACACACAC		HERPUD2	ENSG00000122557.11	transcript	ENST00000311350.8	protein_coding	2/8						chr7	TogoVar

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