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
GTF2F2_chr13_45115510_45289893	45191224	A A	AAAATATA others(31): Show AAAATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	210	0.0048	38	c.305 others(57): Show c.305-16199_305-16198insAATATATATATATATATATATATATA TATATATATATA	GTF2F2	ENSG00000188342.13	transcript	ENST00000340473.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GTF2F2_chr13_45115510_45289893	45228283	C C	CTTTTTTT others(31): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	210	0.0048	38	c.386 others(57): Show c.386+20794_386+20795insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTT	GTF2F2	ENSG00000188342.13	transcript	ENST00000340473.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GTF2H5_chr6_158163350_158204344	158175044	G G	GTGTGTGT others(31): Show GTGTGTGTGTATATATGTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	384	0.0026	38	c.35+ others(53): Show c.35+4507_35+4508insGTGTGTGTATATATGTGTGTGTGTGTGTGT GTGTGTAT	GTF2H5	ENSG00000272047.4	transcript	ENST00000607778.2	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
GTF2H5_chr6_158163350_158204344	158175044	G G	GTGTGTGT others(31): Show GTGTGTGTGTGTGTGTATATGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0089 a0001c0001t0034 a0001c0001t0089	a0001c0001t0034g0069 a0001c0001t0089g0068 a0001c0001t0034g0069 a0001c0001t0089g0068	2	384	0.0052	38	c.35+ others(53): Show c.35+4507_35+4508insGTGTGTGTGTGTGTATATGTGTGTGTGTGT GTGTGTAT	GTF2H5	ENSG00000272047.4	transcript	ENST00000607778.2	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
GZMM_chr19_539053_554922	540041	G G	GCCCCCAG others(31): Show GCCCCCAGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	398	0.0025	38	c.-40 others(49): Show c.-4031_-4030insCCCCCAGGTTTAGAATCCGGAGGCCGGGGTGGCC AGGT	GZMM	ENSG00000197540.8	transcript	ENST00000264553.6	protein_coding		4011		chr19	TogoVar
GZMM_chr19_539053_554922	540061	G G	GGAGGCCG others(31): Show GGAGGCCGGGGTGGCCAGGTCCCCCAGGTTTAGAATCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	398	0.0025	38	c.-40 others(49): Show c.-4011_-4010insGAGGCCGGGGTGGCCAGGTCCCCCAGGTTTAGAA TCCA	GZMM	ENSG00000197540.8	transcript	ENST00000264553.6	protein_coding		3991		chr19	TogoVar
GZMM_chr19_539053_554922	540275	C C	CGGGTTTA others(31): Show CGGGTTTAGAATCCGGAGGCCGGGATGGCCAGGCCCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	398	0.0025	38	c.-37 others(49): Show c.-3797_-3796insGGGTTTAGAATCCGGAGGCCGGGATGGCCAGGCC CCCG	GZMM	ENSG00000197540.8	transcript	ENST00000264553.6	protein_coding		3777		chr19	TogoVar
GZMM_chr19_539053_554922	540275	C C	CGGTTTAG others(31): Show CGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	398	0.0025	38	c.-37 others(49): Show c.-3797_-3796insGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCC CCCG	GZMM	ENSG00000197540.8	transcript	ENST00000264553.6	protein_coding		3777		chr19	TogoVar
GZMM_chr19_539053_554922	540298	G G	GTGGCCAG others(31): Show GTGGCCAGGTCCCCCAGGTTTAGAATCCAGAGGCCGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	398	0.0025	38	c.-37 others(49): Show c.-3774_-3773insTGGCCAGGTCCCCCAGGTTTAGAATCCAGAGGCC GGGA	GZMM	ENSG00000197540.8	transcript	ENST00000264553.6	protein_coding		3754		chr19	TogoVar
GZMM_chr19_539053_554922	540504	G G	GGTTTAGA others(31): Show GGTTTAGAATCTGGAGGCCGGGGTGGCCAGGCCCCCCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02280.hp1 HG02622.hp1 HG02145.hp1 HG02280.hp1 HG02622.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0001 a0001c0001t0001 a0003c0004t0001	a0001c0001t0001g0054 a0003c0004t0001g0052 a0003c0004t0001g0053 a0001c0001t0001g0054 a0003c0004t0001g0052 a0003c0004t0001g0053	3	398	0.0075	38	c.-35 others(49): Show c.-3568_-3567insGTTTAGAATCTGGAGGCCGGGGTGGCCAGGCCCC CCAC	GZMM	ENSG00000197540.8	transcript	ENST00000264553.6	protein_coding		3548		chr19	TogoVar
GZMM_chr19_539053_554922	540580	G G	GGTTTAGA others(31): Show GGTTTAGAATCTGGAGGCCGGGGTGGCCAGGCCCCCCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	398	0.0025	38	c.-34 others(49): Show c.-3492_-3491insGTTTAGAATCTGGAGGCCGGGGTGGCCAGGCCCC CCAC	GZMM	ENSG00000197540.8	transcript	ENST00000264553.6	protein_coding		3472		chr19	TogoVar
GZMM_chr19_539053_554922	550762	C C	CGTCCCCA others(31): Show CGTCCCCACTGTCACCCCCAGCACCCCGAAAACAGGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0013 a0013	a0013c0021 a0013c0021	a0013c0021t0001 a0013c0021t0001	a0013c0021t0001g0156 a0013c0021t0001g0156	1	398	0.0025	38	c.97 others(47): Show c.971_*972insGTCCCCACTGTCACCCCCAGCACCCCGAAAACAGGC CT	GZMM	ENSG00000197540.8	transcript	ENST00000264553.6	protein_coding		841		chr19	TogoVar
GZMM_chr19_539053_554922	550987	A A	ACCCCAGC others(31): Show ACCCCAGCACCCCGAAAACAGGCCCGTCCCCACTGTCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0238 a0001c0007t0002g0238	1	398	0.0025	38	c.11 others(49): Show c.1196_*1197insCCCCAGCACCCCGAAAACAGGCCCGTCCCCACTG TCAC	GZMM	ENSG00000197540.8	transcript	ENST00000264553.6	protein_coding		1066		chr19	TogoVar
H2AC15_chr6_27832880_27843375	27842919	G G	GTGTATAT others(31): Show GTGTATATATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	408	0.0025	38	c.-45 others(49): Show c.-4581_-4580insTATATATATATATATATATATATATATATATATA TACA	H2AC15	ENSG00000275221.2	transcript	ENST00000618958.2	protein_coding		4545		chr6	TogoVar
H2BC15_chr6_27833569_27844110	27842919	G G	GTGTATAT others(31): Show GTGTATATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	416	0.0024	38	c.38 others(49): Show c.3877_*3878insTGTATATATATATATATATATATATATATATATA TATA	H2BC15	ENSG00000233822.6	transcript	ENST00000612898.2	protein_coding		3810		chr6	TogoVar
H3Y1_chr5_17649868_17660849	17651922	C C	CTTTCTTT others(31): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG01891.hp2 HG02738.hp1 HG01884.hp2 HG01891.hp2 HG02738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0000 a0001c0002t0002g0000	3	376	0.0080	38	c.32 others(49): Show c.3205_*3206insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAA	H3Y1	ENSG00000269466.4	transcript	ENST00000598383.3	protein_coding		2945		chr5	TogoVar
H3Y2_chr5_17485967_17497076	17493385	C C	CATATATA others(31): Show CATATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00673.hp2 HG00738.hp2 others(27): Show HG00423.hp2 HG00673.hp2 HG00738.hp2 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01123.hp1 HG01255.hp2 HG01346.hp2 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01952.hp2 HG02004.hp2 HG02132.hp2 HG02622.hp1 HG02723.hp1 HG02735.hp1 HG03098.hp1 HG03471.hp1 HG03486.hp1 NA18943.hp1 NA18959.hp2 NA18963.hp2 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19030.hp1 NA19065.hp1 NA19081.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0002c0003t0001	a0001c0001t0001g0000 a0001c0001t0003g0000 a0001c0002t0001g0000 others(1): Show a0001c0001t0001g0000 a0001c0001t0003g0000 a0001c0002t0001g0000 a0002c0003t0001g0000	30	400	0.0750	38	c.-16 others(49): Show c.-1618_-1617insATATATATATATATATATATATATATATATATAT ATAT	H3Y2	ENSG00000268799.4	transcript	ENST00000600799.3	protein_coding		1310		chr5	TogoVar
H6PD_chr1_9229774_9276337	9250377	C C	CACCCCAC others(31): Show CACCCCACACACACCGCAGGCCATTCTCCCCCACTCCCT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02572.hp1 HG02896.hp2 others(10): Show HG02257.hp2 HG02572.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG03195.hp2 HG03471.hp2 HG03486.hp1 NA18522.hp1 NA18906.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0001c0025 a0002c0006 a0001c0004 a0001c0025 a0002c0006	a0001c0004t0009 a0001c0004t0068 a0001c0004t0071 others(3): Show a0001c0004t0009 a0001c0004t0068 a0001c0004t0071 a0001c0025t0009 a0002c0006t0020 a0002c0006t0045	a0001c0004t0009g0037 a0001c0004t0009g0038 a0001c0004t0009g0165 others(8): Show a0001c0004t0009g0037 a0001c0004t0009g0038 a0001c0004t0009g0165 a0001c0004t0009g0166 a0001c0004t0009g0167 a0001c0004t0009g0170 a0001c0004t0068g0020 a0001c0004t0071g0038 a0001c0025t0009g0020 a0002c0006t0020g0164 a0002c0006t0045g0168	13	404	0.0322	38	c.745 others(55): Show c.745+3332_745+3369dupTACCCCACACACACCGCAGGCCATTCTC CCCCACTCCC	H6PD	ENSG00000049239.13	transcript	ENST00000377403.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
H6PD_chr1_9229774_9276337	9250478	C C	CTCCCCCA others(31): Show CTCCCCCACTCCCCACCCCACACACACCGCAGGCCATTG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03130.hp2 NA20129.hp1 HG02630.hp1 HG03130.hp2 NA20129.hp1	a0006 a0006	a0006c0016 a0006c0016	a0006c0016t0030 a0006c0016t0083 a0006c0016t0030 a0006c0016t0083	a0006c0016t0030g0036 a0006c0016t0083g0163 a0006c0016t0030g0036 a0006c0016t0083g0163	3	404	0.0074	38	c.745 others(55): Show c.745+3422_745+3423insGCAGGCCATTGTCCCCCACTCCCCACCC CACACACACC	H6PD	ENSG00000049239.13	transcript	ENST00000377403.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
HACL1_chr3_15555699_15606569	15592132	A A	ACGTGTAT others(31): Show ACGTGTATATATGTATACATACGTATATACGTATACATG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	428	0.0023	38	c.228 others(53): Show c.228-490_228-453dupCATGTATACGTATATACGTATGTATACATA TATACACG	HACL1	ENSG00000131373.15	transcript	ENST00000321169.10	protein_coding	3/16			chr3	TogoVar
HACL1_chr3_15555699_15606569	15592134	G G	GTGTATAT others(31): Show GTGTATATATGTATACATACGTATATACGTATACATGCA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01884.hp1 HG02109.hp1 others(13): Show HG00673.hp1 HG01884.hp1 HG02109.hp1 HG02280.hp1 HG02559.hp1 HG02717.hp2 HG02723.hp2 HG02818.hp1 HG02886.hp1 HG02922.hp2 HG03139.hp1 NA18522.hp2 NA18978.hp1 NA19043.hp1 NA19043.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0008 a0001c0001 a0001c0003 a0001c0008	a0001c0001t0001 a0001c0003t0003 a0001c0008t0001 a0001c0001t0001 a0001c0003t0003 a0001c0008t0001	a0001c0001t0001g0002 a0001c0001t0001g0056 a0001c0001t0001g0079 others(10): Show a0001c0001t0001g0002 a0001c0001t0001g0056 a0001c0001t0001g0079 a0001c0001t0001g0109 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0194 a0001c0003t0003g0053 a0001c0003t0003g0055 a0001c0008t0001g0058	16	428	0.0374	38	c.228 others(53): Show c.228-492_228-455dupTGCATGTATACGTATATACGTATGTATACA TATATACA	HACL1	ENSG00000131373.15	transcript	ENST00000321169.10	protein_coding	3/16			chr3	TogoVar
HAS1_chr19_51708112_51728991	51726975	T T	TCCTCCTC others(31): Show TCCTCCTCCCTCAGACCCAGGAGTCCCAGGCCTCCATCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0237 a0001c0002t0004g0237	1	464	0.0022	38	c.-30 others(49): Show c.-3043_-3042insGGATGGAGGCCTGGGACTCCTGGGTCTGAGGGAG GAGG	HAS1	ENSG00000105509.11	transcript	ENST00000540069.7	protein_coding		2985		chr19	TogoVar
HAUS1_chr18_46099385_46133333	46112780	A A	ATATATAT others(31): Show ATATATATAATATATATAATGTGTATATATATTCCATAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01074.hp1 HG01167.hp1 HG00639.hp2 HG01074.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0088 a0001c0001t0001g0006 a0001c0001t0001g0088	3	372	0.0081	38	c.206 others(55): Show c.206-5392_206-5355dupATATATATAATGTGTATATATATTCCAT ATTATATATA	HAUS1	ENSG00000152240.13	transcript	ENST00000282058.11	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr18	TogoVar
HAUS1_chr18_46099385_46133333	46112901	T T	TATATATA others(31): Show TATATATATAATATATATAATGTGTATATATTCCATATA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00558.hp2 others(84): Show HG00408.hp2 HG00423.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00738.hp1 HG01074.hp1 HG01109.hp1 HG01167.hp1 HG01168.hp1 HG01261.hp1 HG01515.hp1 HG01517.hp2 HG01891.hp2 HG01934.hp2 HG01952.hp1 HG02004.hp1 HG02040.hp1 HG02055.hp2 HG02056.hp1 HG02135.hp1 HG02148.hp1 HG02155.hp2 HG02273.hp1 HG02738.hp1 HG03041.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03834.hp1 HG04199.hp1 NA18612.hp2 NA18747.hp2 NA18939.hp2 NA18942.hp1 NA18943.hp1 NA18949.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18954.hp2 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18965.hp1 NA18966.hp1 NA18968.hp2 NA18969.hp1 NA18971.hp2 NA18977.hp1 NA18978.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18984.hp2 NA18986.hp2 NA18995.hp1 NA18997.hp1 NA19002.hp2 NA19004.hp2 NA19007.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19056.hp1 NA19058.hp1 NA19060.hp2 NA19062.hp2 NA19065.hp2 NA19067.hp2 NA19068.hp2 NA19075.hp2 NA19079.hp1 NA19080.hp1 NA19081.hp1 NA19082.hp1 NA19084.hp1 NA19085.hp1 NA19086.hp1 NA19087.hp1 NA19088.hp2 NA19090.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0001 a0005c0006t0001 a0001c0001t0001 a0005c0006t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(63): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0064 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0143 a0005c0006t0001g0091 a0005c0006t0001g0095	87	372	0.2339	38	c.206 others(55): Show c.206-5259_206-5222dupGTGTATATATTCCATATAATATATATAA TATATATAAT	HAUS1	ENSG00000152240.13	transcript	ENST00000282058.11	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr18	TogoVar
HAUS1_chr18_46099385_46133333	46113077	T T	TATATATA others(31): Show TATATATATTCCATATTATATATATAATATATATATTCC	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0304 a0001c0001t0001g0304	1	372	0.0027	38	c.206 others(55): Show c.206-5096_206-5095insTCCATATTATATATATAATATATATATT CCATATATAT	HAUS1	ENSG00000152240.13	transcript	ENST00000282058.11	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr18	TogoVar
HAUS2_chr15_42543838_42574994	42544842	C C	CAATATAT others(31): Show CAATATATATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0027 a0001c0001t0029g0027	1	350	0.0029	38	c.-40 others(49): Show c.-4031_-4030insAATATATATATATATATATATATATATATATATA TATA	HAUS2	ENSG00000137814.12	transcript	ENST00000260372.8	protein_coding		3995		chr15	TogoVar
HBA1_chr16_171680_182522	181982	C C	CCACACAC others(31): Show CCACACACACACACACACACACACACACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	398	0.0025	38	c.45 others(49): Show c.4571_*4572insCACACACACACACACACACACACACACACACACA CACA	HBA1	ENSG00000206172.8	transcript	ENST00000320868.9	protein_coding		4461		chr16	TogoVar
HBQ1_chr16_175459_186179	181982	C C	CCACACAC others(31): Show CCACACACACACACACACACACACACACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	384	0.0026	38	c.87 others(47): Show c.874_*875insCACACACACACACACACACACACACACACACACACA CA	HBQ1	ENSG00000086506.3	transcript	ENST00000199708.3	protein_coding		804		chr16	TogoVar
HEATR4_chr14_73473484_73563947	73506804	G G	GTTTTTTT others(31): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0279 a0001c0002t0002g0279	1	368	0.0027	38	c.188 others(55): Show c.1882-234_1882-233insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	HEATR4	ENSG00000187105.9	transcript	ENST00000553558.6	protein_coding	9/17			chr14	TogoVar
HEATR5B_chr2_36975895_37089372	36984215	A A	AAAAAAAA others(31): Show AAAAAAAAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0002 a0002	a0002c0020 a0002c0020	a0002c0020t0005 a0002c0020t0005	a0002c0020t0005g0013 a0002c0020t0005g0013	1	314	0.0032	38	c.591 others(57): Show c.5912-2422_5912-2421insATATATATATATATATATATTTTTTT TTTTTTTTTTTT	HEATR5B	ENSG00000008869.12	transcript	ENST00000233099.6	protein_coding	35/35			chr2	TogoVar
HEATR5B_chr2_36975895_37089372	37037145	G G	GAGATAGA others(31): Show GAGATAGATAGATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0007 a0002c0003t0003g0007	1	314	0.0032	38	c.321 others(55): Show c.3216+709_3216+710insATATATATATATATATATATATATATAT CTATCTATCT	HEATR5B	ENSG00000008869.12	transcript	ENST00000233099.6	protein_coding	21/35			chr2	TogoVar
HEATR5B_chr2_36975895_37089372	37037145	G G	GAGATGGA others(31): Show GAGATGGATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03688.hp1 NA18941.hp1 NA18945.hp2 others(4): Show HG03688.hp1 NA18941.hp1 NA18945.hp2 NA18968.hp2 NA18981.hp1 NA18995.hp1 NA19074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0209 a0001c0002t0001g0215 a0001c0002t0001g0220 others(4): Show a0001c0002t0001g0209 a0001c0002t0001g0215 a0001c0002t0001g0220 a0001c0002t0001g0221 a0001c0002t0001g0225 a0001c0002t0001g0249 a0001c0002t0001g0270	7	314	0.0223	38	c.321 others(55): Show c.3216+709_3216+710insATATATATATATATATATATATATATAT ATATCCATCT	HEATR5B	ENSG00000008869.12	transcript	ENST00000233099.6	protein_coding	21/35			chr2	TogoVar
HEATR5B_chr2_36975895_37089372	37037145	G G	GATATATA others(31): Show GATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01123.hp1 HG01433.hp1 others(4): Show HG00597.hp2 HG01123.hp1 HG01433.hp1 HG03209.hp2 HG03669.hp1 NA19012.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0003 others(1): Show a0001c0001 a0001c0004 a0002c0003 a0002c0020	a0001c0001t0001 a0001c0004t0001 a0002c0003t0002 others(1): Show a0001c0001t0001 a0001c0004t0001 a0002c0003t0002 a0002c0020t0005	a0001c0001t0001g0185 a0001c0001t0001g0192 a0001c0004t0001g0128 others(4): Show a0001c0001t0001g0185 a0001c0001t0001g0192 a0001c0004t0001g0128 a0002c0003t0002g0132 a0002c0003t0002g0136 a0002c0003t0002g0175 a0002c0020t0005g0013	7	314	0.0223	38	c.321 others(55): Show c.3216+709_3216+710insATATATATATATATATATATATATATAT ATATATATAT	HEATR5B	ENSG00000008869.12	transcript	ENST00000233099.6	protein_coding	21/35			chr2	TogoVar
HECTD1_chr14_31095117_31212793	31096670	C C	CATATATA others(31): Show CATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0004 a0001c0010t0004	a0001c0010t0004g0012 a0001c0010t0004g0012	1	342	0.0029	38	c.42 others(49): Show c.4259_*4260insATATATATATATATATATATATATATATATATAT ATAT	HECTD1	ENSG00000092148.14	transcript	ENST00000399332.6	protein_coding		3446		chr14	TogoVar
HECTD1_chr14_31095117_31212793	31096676	C C	CATATATA others(31): Show CATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0003 a0001c0009t0003	a0001c0009t0003g0006 a0001c0009t0003g0006	1	342	0.0029	38	c.42 others(49): Show c.4253_*4254insATATATATATATATATATATATATATATATATAT ATAT	HECTD1	ENSG00000092148.14	transcript	ENST00000399332.6	protein_coding		3440		chr14	TogoVar
HECW1_chr7_43107647_43571001	43180213	T T	TTTGCCCA others(31): Show TTTGCCCAGGATTACTTTCACTGCACTGTGGCTCCTGGG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00438.hp1 others(54): Show HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00639.hp1 HG00673.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01109.hp1 HG01257.hp2 HG01361.hp2 HG01496.hp2 HG01884.hp2 HG02015.hp2 HG02027.hp2 HG02056.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp2 HG02630.hp1 HG02647.hp1 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02895.hp2 HG02922.hp2 HG02965.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp2 HG03486.hp2 HG03540.hp2 HG03654.hp1 HG03834.hp1 HG06807.hp2 NA18522.hp2 NA18942.hp1 NA18942.hp2 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18948.hp2 NA18952.hp2 NA18971.hp1 NA18971.hp2 NA19009.hp1 NA19009.hp2 NA19085.hp1 NA19090.hp2 NA20129.hp1 NA20129.hp2 NA20905.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(12): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0012 a0001c0013 a0001c0014 a0001c0017 a0001c0021 a0001c0025 a0002c0005 a0003c0008 a0004c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(33): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0014 a0001c0001t0016 a0001c0001t0024 a0001c0001t0030 a0001c0001t0035 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0023 a0001c0002t0028 a0001c0003t0001 a0001c0003t0002 a0001c0003t0036 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0004t0013 a0001c0006t0033 a0001c0007t0011 a0001c0012t0007 a0001c0013t0006 a0001c0014t0001 a0001c0017t0003 a0001c0021t0029 a0001c0025t0031 a0002c0005t0001 a0002c0005t0002 a0003c0008t0001 a0003c0008t0010 a0003c0008t0037 a0004c0011t0005	a0001c0001t0001g0002 a0001c0001t0001g0100 a0001c0001t0001g0114 others(54): Show a0001c0001t0001g0002 a0001c0001t0001g0100 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0002g0036 a0001c0001t0002g0043 a0001c0001t0002g0045 a0001c0001t0003g0097 a0001c0001t0004g0001 a0001c0001t0004g0010 a0001c0001t0004g0017 a0001c0001t0004g0029 a0001c0001t0004g0039 a0001c0001t0004g0044 a0001c0001t0004g0046 a0001c0001t0014g0005 a0001c0001t0016g0041 a0001c0001t0024g0070 a0001c0001t0030g0098 a0001c0001t0035g0025 a0001c0002t0001g0080 a0001c0002t0001g0104 a0001c0002t0001g0172 a0001c0002t0003g0069 a0001c0002t0003g0105 a0001c0002t0003g0106 a0001c0002t0003g0124 a0001c0002t0004g0015 a0001c0002t0005g0167 a0001c0002t0005g0180 a0001c0002t0023g0134 a0001c0002t0028g0173 a0001c0003t0001g0071 a0001c0003t0001g0120 a0001c0003t0001g0157 a0001c0003t0001g0164 a0001c0003t0002g0018 a0001c0003t0036g0037 a0001c0004t0001g0085 a0001c0004t0002g0051 a0001c0004t0003g0077 a0001c0004t0013g0068 a0001c0006t0033g0042 a0001c0007t0011g0013 a0001c0012t0007g0079 a0001c0013t0006g0101 a0001c0014t0001g0091 a0001c0017t0003g0107 a0001c0021t0029g0093 a0001c0025t0031g0032 a0002c0005t0001g0110 a0002c0005t0002g0014 a0003c0008t0001g0174 a0003c0008t0010g0081 a0003c0008t0037g0016 a0004c0011t0005g0181 a0004c0011t0005g0182	57	182	0.3132	38	c.-31 others(57): Show c.-31-63661_-31-63624dupTTGCCCAGGATTACTTTCACTGCACT GTGGCTCCTGGG	HECW1	ENSG00000002746.15	transcript	ENST00000395891.7	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr7	TogoVar
HECW2_chr2_196189072_196598554	196278131	A A	AATATATA others(31): Show AATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03209.hp1 HG03491.hp2 HG03041.hp2 HG03209.hp1 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0027 a0001c0002t0001 a0001c0002t0011 a0001c0001t0027 a0001c0002t0001 a0001c0002t0011	a0001c0001t0027g0032 a0001c0002t0001g0044 a0001c0002t0011g0068 a0001c0001t0027g0032 a0001c0002t0001g0044 a0001c0002t0011g0068	3	112	0.0268	38	c.313 others(55): Show c.3135+396_3135+397insATATATATATATATATATATATATATAT ATATATATAT	HECW2	ENSG00000138411.13	transcript	ENST00000644978.2	protein_coding	15/28			chr2	TogoVar
HECW2_chr2_196189072_196598554	196350680	C C	CTATTTCC others(31): Show CTATTTCCTGCCATAAGGAGCTGACGGGATAAGGGGGGA	intron_variant intron_variant	MODIFIER	HG03139.hp1 NA19240.hp1 HG03139.hp1 NA19240.hp1	a0001 a0006 a0001 a0006	a0001c0011 a0006c0024 a0001c0011 a0006c0024	a0001c0011t0002 a0006c0024t0003 a0001c0011t0002 a0006c0024t0003	a0001c0011t0002g0027 a0006c0024t0003g0108 a0001c0011t0002g0027 a0006c0024t0003g0108	2	112	0.0179	38	c.293 others(55): Show c.293-6917_293-6916insTCCCCCCTTATCCCGTCAGCTCCTTATG GCAGGAAATA	HECW2	ENSG00000138411.13	transcript	ENST00000644978.2	protein_coding	2/28			chr2	TogoVar
HEG1_chr3_124960710_125060997	124987952	C C	CACACACA others(31): Show CACACACACACACACACACACACACATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA19054.hp1 NA18952.hp2 NA19054.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0007 a0002c0003t0074 a0002c0003t0007 a0002c0003t0074	a0002c0003t0007g0069 a0002c0003t0074g0075 a0002c0003t0007g0069 a0002c0003t0074g0075	2	362	0.0055	38	c.373 others(57): Show c.3733+2834_3733+2835insATATATATATATATGTGTGTGTGTGT GTGTGTGTGTGT	HEG1	ENSG00000173706.15	transcript	ENST00000311127.9	protein_coding	14/16			chr3	TogoVar
HEG1_chr3_124960710_125060997	124987952	C C	CACACACA others(31): Show CACACACACACACACACACACACATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01517.hp1 NA18960.hp1 HG00639.hp1 HG01517.hp1 NA18960.hp1	a0005 a0025 a0055 a0005 a0025 a0055	a0005c0007 a0025c0030 a0055c0090 a0005c0007 a0025c0030 a0055c0090	a0005c0007t0137 a0025c0030t0048 a0055c0090t0119 a0005c0007t0137 a0025c0030t0048 a0055c0090t0119	a0005c0007t0137g0337 a0025c0030t0048g0036 a0055c0090t0119g0350 a0005c0007t0137g0337 a0025c0030t0048g0036 a0055c0090t0119g0350	3	362	0.0083	38	c.373 others(57): Show c.3733+2834_3733+2835insATATATATATATATATGTGTGTGTGT GTGTGTGTGTGT	HEG1	ENSG00000173706.15	transcript	ENST00000311127.9	protein_coding	14/16			chr3	TogoVar
HEG1_chr3_124960710_125060997	124987952	C C	CACACACA others(31): Show CACACACACACACACACACACATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19003.hp2 homoSapiens_chm13v2.hp1 NA19003.hp2 homoSapiens_chm13v2.hp1	a0001 a0005 a0001 a0005	a0001c0002 a0005c0039 a0001c0002 a0005c0039	a0001c0002t0001 a0005c0039t0017 a0001c0002t0001 a0005c0039t0017	a0001c0002t0001g0127 a0005c0039t0017g0340 a0001c0002t0001g0127 a0005c0039t0017g0340	2	362	0.0055	38	c.373 others(57): Show c.3733+2834_3733+2835insATATATATATATATATATGTGTGTGT GTGTGTGTGTGT	HEG1	ENSG00000173706.15	transcript	ENST00000311127.9	protein_coding	14/16			chr3	TogoVar
HEG1_chr3_124960710_125060997	124987952	C C	CACACACA others(31): Show CACACACACACACACACACATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03239.hp1 NA18950.hp1 NA18975.hp1 HG03239.hp1 NA18950.hp1 NA18975.hp1	a0001 a0009 a0001 a0009	a0001c0002 a0009c0027 a0001c0002 a0009c0027	a0001c0002t0001 a0001c0002t0052 a0009c0027t0005 a0001c0002t0001 a0001c0002t0052 a0009c0027t0005	a0001c0002t0001g0120 a0001c0002t0052g0135 a0009c0027t0005g0333 a0001c0002t0001g0120 a0001c0002t0052g0135 a0009c0027t0005g0333	3	362	0.0083	38	c.373 others(57): Show c.3733+2834_3733+2835insATATATATATATATATATATGTGTGT GTGTGTGTGTGT	HEG1	ENSG00000173706.15	transcript	ENST00000311127.9	protein_coding	14/16			chr3	TogoVar
HEG1_chr3_124960710_125060997	124987952	C C	CACACACA others(31): Show CACACACACACACACATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG03486.hp2 NA18955.hp2 HG02698.hp1 HG03486.hp2 NA18955.hp2	a0001 a0007 a0010 a0001 a0007 a0010	a0001c0010 a0007c0011 a0010c0016 a0001c0010 a0007c0011 a0010c0016	a0001c0010t0001 a0007c0011t0086 a0010c0016t0141 a0001c0010t0001 a0007c0011t0086 a0010c0016t0141	a0001c0010t0001g0030 a0007c0011t0086g0080 a0010c0016t0141g0224 a0001c0010t0001g0030 a0007c0011t0086g0080 a0010c0016t0141g0224	3	362	0.0083	38	c.373 others(57): Show c.3733+2834_3733+2835insATATATATATATATATATATATATGT GTGTGTGTGTGT	HEG1	ENSG00000173706.15	transcript	ENST00000311127.9	protein_coding	14/16			chr3	TogoVar
HELB_chr12_66297493_66343199	66327066	A A	AAAAAATA others(31): Show AAAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0192 a0002c0001t0002g0192	1	390	0.0026	38	c.267 others(57): Show c.2670+1941_2670+1942insAAAATATATATATATATATATATATA TATATATATATA	HELB	ENSG00000127311.10	transcript	ENST00000247815.9	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
HELZ_chr17_67065444_67250196	67089668	T T	TATATATA others(31): Show TATATATATATATATATATATAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0074 a0002c0002t0005g0074	1	274	0.0037	38	c.524 others(57): Show c.5242-2588_5242-2587insCTCTCTCTCTCTCTCTCTATATATAT ATATATATATAT	HELZ	ENSG00000198265.12	transcript	ENST00000358691.10	protein_coding	31/32			chr17	TogoVar
HERC6_chr4_88373852_88448097	88379954	A A	AATATATA others(31): Show AATATATATATAATATATAAATATATATAATATATAAAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0013 a0013	a0013c0018 a0013c0018	a0013c0018t0001 a0013c0018t0001	a0013c0018t0001g0172 a0013c0018t0001g0172	1	174	0.0058	38	c.199 others(53): Show c.199+843_199+844insTAATATATAAATATATATAATATATAAATA TATATATA	HERC6	ENSG00000138642.16	transcript	ENST00000264346.12	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr4	TogoVar
HERPUD2_chr7_35627659_35700135	35682212	T T	TGTGTGTG others(31): Show TGTGTGTGTGTGTATATATAGATATATACACATACACAC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02809.hp2 HG02622.hp1 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0214 a0001c0001t0001g0210 a0001c0001t0001g0214	2	392	0.0051	38	c.148 others(55): Show c.148-8972_148-8935dupGTGTGTATGTGTATATATCTATATATAC ACACACACAC	HERPUD2	ENSG00000122557.11	transcript	ENST00000311350.8	protein_coding	2/8			chr7	TogoVar
HES4_chr1_993964_1005097	998757	C C	CGCGGAGG others(31): Show CGCGGAGGGGAGGGCGCGGAGCGGAGGGGAGGGCGCGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(24): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00639.hp1 HG00738.hp1 HG01074.hp2 HG01192.hp2 HG01975.hp1 HG02486.hp1 HG02976.hp2 HG03540.hp1 HG03688.hp1 HG03834.hp2 HG03942.hp2 HG04228.hp2 NA18944.hp2 NA18964.hp1 NA18971.hp1 NA18974.hp2 NA18999.hp1 NA19000.hp2 NA19010.hp2 NA19058.hp1 NA19064.hp1 NA19091.hp1 NA19240.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0001 a0001c0001t0001g0003	27	396	0.0682	38	c.30 others(47): Show c.301_*302insTCCGCGCCCTCCCCTCCGCTCCGCGCCCTCCCCTCC GC	HES4	ENSG00000188290.11	transcript	ENST00000304952.11	protein_coding		206		chr1	TogoVar
HEY1_chr8_79759010_79772767	79769371	A A	ATCTTTTT others(31): Show ATCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG02486.hp2 HG02895.hp1 others(6): Show HG01074.hp2 HG02486.hp2 HG02895.hp1 HG03041.hp1 HG03139.hp1 HG03209.hp2 HG03516.hp2 HG03540.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0008 a0001c0001t0002g0005 a0001c0001t0001g0008 a0001c0001t0002g0005	9	460	0.0196	38	c.-17 others(49): Show c.-1709_-1708insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAGA	HEY1	ENSG00000164683.19	transcript	ENST00000354724.8	protein_coding		1605		chr8	TogoVar
HFM1_chr1_91255766_91409837	91277898	C C	CCTATATA others(31): Show CCTATATATATAATATATACTTATATATTATATATGCTT	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	362	0.0028	38	c.339 others(55): Show c.3392-837_3392-836insAAGCATATATAATATATAAGTATATATT ATATATATAG	HFM1	ENSG00000162669.16	transcript	ENST00000370425.8	protein_coding	30/38			chr1	TogoVar

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