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
HS6ST3_chr13_96085107_96844562	96304713	T T	TTCTTTCT others(19): Show TTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0007 a0001c0001t0007g0007	1	116	0.0086	26	c.707 others(47): Show c.707+213145_707+213146insCTTTCTTTCTTTCTTTCTTTCTTT CT	HS6ST3	ENSG00000185352.10	transcript	ENST00000376705.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr13	TogoVar
HS6ST3_chr13_96085107_96844562	96831954	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0072 a0001c0001t0008g0072	1	116	0.0086	26	c.708 others(41): Show c.708-535_708-510dupAAAAAAAAAAAAAAAAAAAAAAAAAA	HS6ST3	ENSG00000185352.10	transcript	ENST00000376705.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr13	TogoVar
HS6ST3_chr13_96085107_96844562	96842771	A A	ATTTTTTT others(19): Show ATTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp2 NA19043.hp2 HG03195.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0065 a0001c0001t0005g0013 a0001c0001t0001g0065 a0001c0001t0005g0013	2	116	0.0172	26	c.95 others(37): Show c.9573_*9574insTTTTTTTTTTTTTTTTTTTTTTTTTT	HS6ST3	ENSG00000185352.10	transcript	ENST00000376705.4	protein_coding		3210		chr13	TogoVar
HSD17B12_chr11_43675738_43861615	43810367	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0192 a0002c0002t0002g0192	1	280	0.0036	26	c.392 others(43): Show c.392-5059_392-5034dupTATATATATATATATATATATATATA	HSD17B12	ENSG00000149084.13	transcript	ENST00000278353.10	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
HSD17B14_chr19_48808018_48841491	48826528	A A	AAAATATA others(19): Show AAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	394	0.0025	26	c.369 others(43): Show c.369+5139_369+5140insATATATATATATATATATATATATTT	HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	5/8			chr19	TogoVar
HSD17B14_chr19_48808018_48841491	48826528	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00741.hp2 HG01255.hp2 others(12): Show HG00639.hp2 HG00741.hp2 HG01255.hp2 HG03688.hp2 NA18944.hp2 NA18975.hp1 NA18997.hp2 NA19010.hp2 NA19012.hp2 NA19054.hp1 NA19079.hp1 NA19080.hp2 NA19087.hp2 NA19090.hp2 NA20805.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0002 a0007c0008 a0001c0001 a0002c0002 a0007c0008	a0001c0001t0001 a0002c0002t0001 a0007c0008t0001 a0001c0001t0001 a0002c0002t0001 a0007c0008t0001	a0001c0001t0001g0004 a0001c0001t0001g0057 a0001c0001t0001g0092 others(11): Show a0001c0001t0001g0004 a0001c0001t0001g0057 a0001c0001t0001g0092 a0001c0001t0001g0095 a0001c0001t0001g0128 a0001c0001t0001g0150 a0001c0001t0001g0158 a0001c0001t0001g0202 a0001c0001t0001g0207 a0001c0001t0001g0281 a0001c0001t0001g0282 a0002c0002t0001g0316 a0002c0002t0001g0371 a0007c0008t0001g0242	15	394	0.0381	26	c.369 others(43): Show c.369+5139_369+5140insATATATATATATATATATATATATAT	HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	5/8			chr19	TogoVar
HSD17B14_chr19_48808018_48841491	48826542	T T	TATATATA others(19): Show TATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02280.hp2 NA18941.hp1 HG02074.hp1 HG02280.hp2 NA18941.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0002 a0006c0009 a0001c0001 a0002c0002 a0006c0009	a0001c0001t0001 a0002c0002t0001 a0006c0009t0001 a0001c0001t0001 a0002c0002t0001 a0006c0009t0001	a0001c0001t0001g0173 a0002c0002t0001g0304 a0006c0009t0001g0256 a0001c0001t0001g0173 a0002c0002t0001g0304 a0006c0009t0001g0256	3	394	0.0076	26	c.369 others(43): Show c.369+5125_369+5126insGTATATATATATATATATATATATAT	HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	5/8			chr19	TogoVar
HSD17B2_chr16_82030253_82103534	82043684	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0305 a0001c0001t0001g0305	1	366	0.0027	26	c.265 others(43): Show c.265+8000_265+8025dupAAAAAAAAAAAAAAAAAAAAAAAAAA	HSD17B2	ENSG00000086696.11	transcript	ENST00000199936.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
HSD17B3_chr9_96230306_96307176	96272373	A A	ATCTCTCT others(19): Show ATCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01346.hp1 HG01981.hp2 others(3): Show HG00642.hp1 HG01346.hp1 HG01981.hp2 HG02257.hp1 NA18963.hp2 NA18991.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 a0001c0001t0001 a0001c0001t0002 a0002c0002t0002	a0001c0001t0001g0027 a0001c0001t0001g0183 a0001c0001t0001g0197 others(3): Show a0001c0001t0001g0027 a0001c0001t0001g0183 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0002g0315 a0002c0002t0002g0354	6	374	0.0160	26	c.202 others(45): Show c.202-17456_202-17431dupGAGAGAGAGAGAGAGAGAGAGAGAGA	HSD17B3	ENSG00000130948.10	transcript	ENST00000375263.8	protein_coding	2/10			chr9	TogoVar
HSD17B3_chr9_96230306_96307176	96272405	C C	CTCTCTCT others(19): Show CTCTCTCTCTCTCTCTATATATATATA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	374	0.0027	26	c.202 others(45): Show c.202-17463_202-17462insTATATATATATAGAGAGAGAGAGAGA	HSD17B3	ENSG00000130948.10	transcript	ENST00000375263.8	protein_coding	2/10			chr9	TogoVar
HSD17B3_chr9_96230306_96307176	96272405	C C	CTCTCTCT others(19): Show CTCTCTCTCTCTCTCTCTCTATATATA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02109.hp1 HG02683.hp1 others(1): Show HG01255.hp1 HG02109.hp1 HG02683.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0125 a0001c0001t0001g0127 others(1): Show a0001c0001t0001g0091 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0145	4	374	0.0107	26	c.202 others(45): Show c.202-17463_202-17462insTATATATAGAGAGAGAGAGAGAGAGA	HSD17B3	ENSG00000130948.10	transcript	ENST00000375263.8	protein_coding	2/10			chr9	TogoVar
HSD17B3_chr9_96230306_96307176	96272405	C C	CTCTCTCT others(19): Show CTCTCTCTCTCTCTCTCTCTCTATATA	intron_variant intron_variant	MODIFIER	HG02486.hp1 NA18999.hp2 HG02486.hp1 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0123 a0001c0001t0001g0014 a0001c0001t0001g0123	2	374	0.0054	26	c.202 others(45): Show c.202-17463_202-17462insTATATAGAGAGAGAGAGAGAGAGAGA	HSD17B3	ENSG00000130948.10	transcript	ENST00000375263.8	protein_coding	2/10			chr9	TogoVar
HSD17B3_chr9_96230306_96307176	96272405	C C	CTCTCTCT others(19): Show CTCTCTCTCTCTCTCTCTCTCTCTATA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01361.hp1 HG03669.hp2 others(3): Show HG01168.hp2 HG01361.hp1 HG03669.hp2 NA18950.hp2 NA18968.hp2 NA18988.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0001c0001t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0001g0139 a0001c0001t0001g0206 a0001c0001t0001g0215 others(3): Show a0001c0001t0001g0139 a0001c0001t0001g0206 a0001c0001t0001g0215 a0001c0001t0001g0221 a0001c0001t0002g0296 a0002c0002t0001g0173	6	374	0.0160	26	c.202 others(45): Show c.202-17463_202-17462insTATAGAGAGAGAGAGAGAGAGAGAGA	HSD17B3	ENSG00000130948.10	transcript	ENST00000375263.8	protein_coding	2/10			chr9	TogoVar
HSD17B3_chr9_96230306_96307176	96272405	C C	CTCTCTCT others(19): Show CTCTCTCTCTCTCTCTCTCTCTCTCTA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02602.hp1 HG02895.hp2 others(1): Show HG02280.hp2 HG02602.hp1 HG02895.hp2 HG03710.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0116 a0001c0001t0001g0180 a0001c0001t0001g0186 others(1): Show a0001c0001t0001g0116 a0001c0001t0001g0180 a0001c0001t0001g0186 a0002c0002t0002g0369	4	374	0.0107	26	c.202 others(45): Show c.202-17463_202-17462insTAGAGAGAGAGAGAGAGAGAGAGAGA	HSD17B3	ENSG00000130948.10	transcript	ENST00000375263.8	protein_coding	2/10			chr9	TogoVar
HSD3B2_chr1_119410150_119428034	119421453	G G	GTATATAT others(19): Show GTATATATATATATGTATATATATGTA	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	442	0.0023	26	c.308 others(41): Show c.308-345_308-344insATGTATATATATGTATATATATATAT	HSD3B2	ENSG00000203859.10	transcript	ENST00000369416.4	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
HSDL1_chr16_84117141_84150177	84148596	C C	CTCTCTTT others(19): Show CTCTCTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG03471.hp1 NA18993.hp1 others(3): Show HG02145.hp1 HG03471.hp1 NA18993.hp1 NA18993.hp2 NA19010.hp2 NA19078.hp1	a0002 a0008 a0002 a0008	a0002c0002 a0008c0008 a0002c0002 a0008c0008	a0002c0002t0003 a0002c0002t0014 a0008c0008t0002 a0002c0002t0003 a0002c0002t0014 a0008c0008t0002	a0002c0002t0003g0192 a0002c0002t0003g0196 a0002c0002t0003g0205 others(3): Show a0002c0002t0003g0192 a0002c0002t0003g0196 a0002c0002t0003g0205 a0002c0002t0014g0064 a0002c0002t0014g0066 a0008c0008t0002g0313	6	448	0.0134	26	c.-35 others(37): Show c.-3586_-3585insAAAAAAAAAAAAAAAAAAAAAAGAGA	HSDL1	ENSG00000103160.12	transcript	ENST00000219439.9	protein_coding		3420		chr16	TogoVar
HSDL1_chr16_84117141_84150177	84148596	C C	CTCTTTTT others(19): Show CTCTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18946.hp1 NA18950.hp1 NA18961.hp2 others(2): Show NA18946.hp1 NA18950.hp1 NA18961.hp2 NA18963.hp2 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0016 a0001c0001t0001 a0001c0001t0016	a0001c0001t0001g0004 a0001c0001t0001g0145 a0001c0001t0016g0102 others(2): Show a0001c0001t0001g0004 a0001c0001t0001g0145 a0001c0001t0016g0102 a0001c0001t0016g0107 a0001c0001t0016g0108	5	448	0.0112	26	c.-35 others(37): Show c.-3586_-3585insAAAAAAAAAAAAAAAAAAAAAAAAGA	HSDL1	ENSG00000103160.12	transcript	ENST00000219439.9	protein_coding		3420		chr16	TogoVar
HSDL1_chr16_84117141_84150177	84148596	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00597.hp1 HG00673.hp1 others(23): Show HG00408.hp1 HG00597.hp1 HG00673.hp1 HG01928.hp1 HG02027.hp2 HG02135.hp1 HG02135.hp2 HG02602.hp1 HG03540.hp1 NA18747.hp1 NA18940.hp1 NA18947.hp2 NA18956.hp2 NA18963.hp1 NA18965.hp1 NA18979.hp1 NA18988.hp2 NA19002.hp1 NA19055.hp1 NA19060.hp1 NA19064.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19072.hp2 NA19091.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0003 a0002c0002t0012 a0002c0002t0019	a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0011 others(23): Show a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0081 a0001c0001t0001g0085 a0001c0001t0001g0098 a0001c0001t0001g0104 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0002g0077 a0001c0001t0002g0241 a0001c0001t0002g0264 a0001c0001t0002g0268 a0001c0001t0002g0275 a0002c0002t0003g0170 a0002c0002t0003g0253 a0002c0002t0012g0021 a0002c0002t0019g0272	26	448	0.0580	26	c.-35 others(37): Show c.-3586_-3585insAAAAAAAAAAAAAAAAAAAAAAAAAA	HSDL1	ENSG00000103160.12	transcript	ENST00000219439.9	protein_coding		3420		chr16	TogoVar
HSDL2_chr9_112375108_112477405	112476260	G G	GCCCCCCC others(19): Show GCCCCCCCCCCCCCCCCCCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	366	0.0027	26	c.57 others(37): Show c.5716_*5717insCCCCCCCCCCCCCCCCCCCCCCCCCC	HSDL2	ENSG00000119471.15	transcript	ENST00000398805.8	protein_coding		3856		chr9	TogoVar
HSF1_chr8_144286604_144319720	144313723	G G	GCGCCGCC others(19): Show GCGCCGCCTCCCCGCGCCGCGCCGCCT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	330	0.0030	26	c.124 others(43): Show c.1248+108_1248+109insGCCGCCTCCCCGCGCCGCGCCGCCTC	HSF1	ENSG00000185122.11	transcript	ENST00000528838.6	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
HSF1_chr8_144286604_144319720	144313795	C C	CTCCCCGC others(19): Show CTCCCCGCGCCGCCCCGCCTCCCCGCT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0128 a0005c0007t0001g0128	1	330	0.0030	26	c.124 others(41): Show c.1249-44_1249-43insGCCGCCCCGCCTCCCCGCTTCCCCGC	HSF1	ENSG00000185122.11	transcript	ENST00000528838.6	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
HSPA12A_chr10_116666192_116747566	116712977	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00673.hp1 others(13): Show HG00099.hp2 HG00140.hp2 HG00673.hp1 HG01109.hp2 HG01243.hp1 HG01255.hp2 HG01891.hp2 HG02083.hp1 HG02735.hp2 HG03139.hp1 NA18959.hp2 NA18977.hp2 NA18990.hp2 NA18994.hp2 NA19065.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0065 others(11): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0149 a0001c0001t0002g0181 a0001c0001t0004g0028 a0001c0001t0004g0078 a0001c0001t0004g0189 a0001c0001t0004g0203 a0001c0001t0004g0205	16	320	0.0500	26	c.41- others(41): Show c.41-5718_41-5693dupATATATATATATATATATATATATAT	HSPA12A	ENSG00000165868.16	transcript	ENST00000369209.8	protein_coding	1/11			chr10	TogoVar
HSPA4_chr5_133047013_133111449	133085489	T T	TTAAAAAA others(19): Show TTAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02280.hp1 HG03041.hp2 HG01243.hp2 HG02280.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0024 a0001c0001t0019 a0001c0001t0024	a0001c0001t0019g0081 a0001c0001t0024g0080 a0001c0001t0024g0082 a0001c0001t0019g0081 a0001c0001t0024g0080 a0001c0001t0024g0082	3	364	0.0082	26	c.909 others(43): Show c.909-1293_909-1292insTAAAAAAAAAAAAAAAAAAAAAAAAA	HSPA4	ENSG00000170606.16	transcript	ENST00000304858.7	protein_coding	7/18			chr5	TogoVar
HTR1D_chr1_23186895_23222502	23187986	C C	CTGTGTGT others(19): Show CTGTGTGTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0003 a0001c0008t0003	a0001c0008t0003g0191 a0001c0008t0003g0191	1	356	0.0028	26	c.50 others(37): Show c.5099_*5100insCACACACACACACACACACACACACA	HTR1D	ENSG00000179546.5	transcript	ENST00000374619.2	protein_coding		3908		chr1	TogoVar
HTR2C_chrX_114579086_114915061	114734564	T T	TAAAAAAA others(19): Show TAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0154 a0002c0002t0001g0154	1	176	0.0057	26	c.349 others(43): Show c.349+2960_349+2985dupAAAAAAAAAAAAAAAAAAAAAAAAAA	HTR2C	ENSG00000147246.10	transcript	ENST00000276198.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chrX	TogoVar
HTR2C_chrX_114579086_114915061	114806341	A A	ATATATAT others(19): Show ATATATATACACACCATATATATACCG	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0056 a0001c0001t0005g0056	1	176	0.0057	26	c.350 others(45): Show c.350-41638_350-41613dupCCGTATATATACACACCATATATATA	HTR2C	ENSG00000147246.10	transcript	ENST00000276198.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chrX	TogoVar
HTR2C_chrX_114579086_114915061	114806382	A A	ATATATAT others(19): Show ATATATATACCATATATATACACAACT	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0026 a0001c0001t0002g0026	1	176	0.0057	26	c.350 others(45): Show c.350-41613_350-41612insCCATATATATACACAACTTATATATA	HTR2C	ENSG00000147246.10	transcript	ENST00000276198.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chrX	TogoVar
HTR2C_chrX_114579086_114915061	114807291	A A	ATATACCA others(19): Show ATATACCATGTATATACACCATGTATC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02886.hp1 HG03098.hp1 others(1): Show HG02572.hp1 HG02886.hp1 HG03098.hp1 NA19240.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0166 a0002c0002t0004g0167 a0002c0002t0004g0168 others(1): Show a0002c0002t0004g0166 a0002c0002t0004g0167 a0002c0002t0004g0168 a0002c0002t0004g0169	4	176	0.0227	26	c.350 others(45): Show c.350-40691_350-40690insGTATCTATACCATGTATATACACCAT	HTR2C	ENSG00000147246.10	transcript	ENST00000276198.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chrX	TogoVar
HTR3D_chr3_184026742_184044369	184031192	G G	GGAGGGAG others(19): Show GGAGGGAGGGAGGGAGAAAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG02486.hp1 HG02622.hp2 others(6): Show HG00735.hp2 HG02486.hp1 HG02622.hp2 HG02630.hp2 HG02809.hp2 HG02970.hp1 HG03540.hp1 NA20129.hp1 NA20300.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0012 a0001c0005t0005g0023 a0001c0005t0005g0012 a0001c0005t0005g0023	9	450	0.0200	26	c.-55 others(35): Show c.-550_-549insGAGGGAGGGAGGGAGAAAGAGAGAGA	HTR3D	ENSG00000186090.11	transcript	ENST00000428798.7	protein_coding		549		chr3	TogoVar
HTR4_chr5_148476547_148659527	148655964	G G	GTATGTAT others(19): Show GTATGTATGTATGTATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0057 a0001c0001t0002g0057	1	310	0.0032	26	c.-19 others(37): Show c.-1951_-1950insTATATATATATATACATACATACATA	HTR4	ENSG00000164270.19	transcript	ENST00000377888.8	protein_coding		1438		chr5	TogoVar
HTR4_chr5_148476547_148659527	148655993	T T	TATATATA others(19): Show TATATATATATATAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp1 HG03453.hp1 HG02965.hp1 HG03453.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0013 a0001c0001t0001 a0002c0003t0013	a0001c0001t0001g0192 a0002c0003t0013g0193 a0001c0001t0001g0192 a0002c0003t0013g0193	2	310	0.0065	26	c.-19 others(37): Show c.-1980_-1979insCTCTCTCTCTCTCTATATATATATAT	HTR4	ENSG00000164270.19	transcript	ENST00000377888.8	protein_coding		1467		chr5	TogoVar
HTR4_chr5_148476547_148659527	148655993	T T	TATATATA others(19): Show TATATATATATATATATAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	310	0.0032	26	c.-19 others(37): Show c.-1980_-1979insCTCTCTCTCTATATATATATATATAT	HTR4	ENSG00000164270.19	transcript	ENST00000377888.8	protein_coding		1467		chr5	TogoVar
HYAL1_chr3_50294893_50308574	50304296	A A	AAAATATA others(19): Show AAAATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	384	0.0026	26	c.-85 others(35): Show c.-856_-855insATATATATATATATATATATATATTT	HYAL1	ENSG00000114378.17	transcript	ENST00000395144.7	protein_coding		723		chr3	TogoVar
HYCC2_chr2_200968718_201076671	201047445	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0165 a0001c0001t0003g0165	1	176	0.0057	26	c.-12 others(45): Show c.-128-1853_-128-1852insATATATATATATATATATATATATAT	HYCC2	ENSG00000155744.10	transcript	ENST00000681958.1	protein_coding	1/12			chr2	TogoVar
HYCC2_chr2_200968718_201076671	201076484	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0004 a0001c0001t0032g0004	1	176	0.0057	26	c.-50 others(37): Show c.-5029_-5004dupATATATATATATATATATATATATAT	HYCC2	ENSG00000155744.10	transcript	ENST00000681958.1	protein_coding		4814		chr2	TogoVar
HYDIN_chr16_70797084_71235722	70834980	A A	ATATATAT others(19): Show ATATATATATACACACATATATGTGTG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02970.hp1 HG03540.hp1 others(4): Show HG02647.hp1 HG02970.hp1 HG03540.hp1 NA18906.hp2 NA19043.hp1 NA19043.hp2 NA19240.hp2	a0001 a0003 a0025 a0001 a0003 a0025	a0001c0059 a0003c0008 a0003c0014 others(2): Show a0001c0059 a0003c0008 a0003c0014 a0003c0060 a0025c0061	a0001c0059t0031 a0003c0008t0008 a0003c0014t0016 others(2): Show a0001c0059t0031 a0003c0008t0008 a0003c0014t0016 a0003c0060t0008 a0025c0061t0013	a0001c0059t0031g0026 a0003c0008t0008g0124 a0003c0008t0008g0125 others(4): Show a0001c0059t0031g0026 a0003c0008t0008g0124 a0003c0008t0008g0125 a0003c0008t0008g0126 a0003c0014t0016g0154 a0003c0060t0008g0031 a0025c0061t0013g0117	7	174	0.0402	26	c.134 others(45): Show c.13401+695_13401+696insCACACATATATGTGTGTATATATATA	HYDIN	ENSG00000157423.18	transcript	ENST00000393567.7	protein_coding	78/85			chr16	TogoVar
HYDIN_chr16_70797084_71235722	70902794	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG06807.hp1 NA18522.hp2 HG01243.hp1 HG06807.hp1 NA18522.hp2	a0003 a0034 a0003 a0034	a0003c0004 a0034c0071 a0003c0004 a0034c0071	a0003c0004t0005 a0034c0071t0012 a0003c0004t0005 a0034c0071t0012	a0003c0004t0005g0028 a0003c0004t0005g0029 a0034c0071t0012g0130 a0003c0004t0005g0028 a0003c0004t0005g0029 a0034c0071t0012g0130	3	174	0.0172	26	c.884 others(43): Show c.8849+805_8849+830dupATATATATATATATATATATATATAT	HYDIN	ENSG00000157423.18	transcript	ENST00000393567.7	protein_coding	52/85			chr16	TogoVar
HYDIN_chr16_70797084_71235722	70902821	A A	ATATATAT others(19): Show ATATATATATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0029 a0002c0005t0029	a0002c0005t0029g0114 a0002c0005t0029g0114	1	174	0.0058	26	c.884 others(43): Show c.8849+803_8849+804insAAAAAAAAAAAAAAAAAATATATATA	HYDIN	ENSG00000157423.18	transcript	ENST00000393567.7	protein_coding	52/85			chr16	TogoVar
HYLS1_chr11_125882668_125905646	125901008	C C	CAGAAAAA others(19): Show CAGAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	436	0.0023	26	c.74 others(35): Show c.740_*741insAGAAAAAAAAAAAAAAAAAAAAAAAA	HYLS1	ENSG00000198331.11	transcript	ENST00000425380.7	protein_coding		363		chr11	TogoVar
IBSP_chr4_87794554_87817435	87813979	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	454	0.0022	26	c.20 others(37): Show c.2069_*2070insATATATATATATATATATATATATAT	IBSP	ENSG00000029559.7	transcript	ENST00000226284.7	protein_coding		1545		chr4	TogoVar
IBTK_chr6_82164987_82252744	82173674	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02622.hp2 HG03225.hp1 others(1): Show HG01109.hp1 HG02622.hp2 HG03225.hp1 HG03540.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0002 a0001c0004 a0002c0002	a0001c0004t0002 a0002c0002t0002 a0001c0004t0002 a0002c0002t0002	a0001c0004t0002g0270 a0002c0002t0002g0065 a0002c0002t0002g0098 others(1): Show a0001c0004t0002g0270 a0002c0002t0002g0065 a0002c0002t0002g0098 a0002c0002t0002g0100	4	296	0.0135	26	c.372 others(43): Show c.3726-237_3726-236insATATATATATATATATATATATATAT	IBTK	ENSG00000005700.15	transcript	ENST00000306270.12	protein_coding	26/28			chr6	TogoVar
ICA1L_chr2_202768176_202876766	202847703	A A	ATATATAT others(19): Show ATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01192.hp1 HG01243.hp1 others(40): Show HG00741.hp2 HG01192.hp1 HG01243.hp1 HG01361.hp2 HG01516.hp2 HG01943.hp1 HG01975.hp2 HG02040.hp1 HG02083.hp1 HG02129.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02280.hp1 HG02523.hp2 HG02602.hp1 HG03491.hp2 HG03579.hp2 HG03942.hp2 NA18747.hp1 NA18945.hp1 NA18948.hp2 NA18949.hp1 NA18952.hp2 NA18960.hp2 NA18964.hp1 NA18964.hp2 NA18971.hp1 NA18977.hp1 NA18984.hp1 NA18994.hp2 NA18999.hp1 NA19003.hp2 NA19030.hp2 NA19057.hp2 NA19058.hp2 NA19059.hp2 NA19063.hp2 NA19078.hp1 NA19083.hp2 NA19085.hp1 NA19086.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(14): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0019 a0001c0001t0020 a0001c0001t0036 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071 a0001c0001t0073 a0001c0001t0074 a0001c0001t0076 a0002c0002t0045	a0001c0001t0002g0025 a0001c0001t0002g0058 a0001c0001t0002g0076 others(40): Show a0001c0001t0002g0025 a0001c0001t0002g0058 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0081 a0001c0001t0002g0088 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0123 a0001c0001t0002g0128 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0056 a0001c0001t0003g0059 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0073 a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0003g0084 a0001c0001t0003g0099 a0001c0001t0003g0105 a0001c0001t0003g0130 a0001c0001t0004g0027 a0001c0001t0007g0034 a0001c0001t0009g0003 a0001c0001t0009g0121 a0001c0001t0009g0124 a0001c0001t0010g0026 a0001c0001t0013g0104 a0001c0001t0019g0031 a0001c0001t0020g0064 a0001c0001t0020g0087 a0001c0001t0036g0057 a0001c0001t0069g0133 a0001c0001t0070g0107 a0001c0001t0071g0085 a0001c0001t0073g0080 a0001c0001t0074g0055 a0001c0001t0076g0051 a0002c0002t0045g0327	43	330	0.1303	26	c.-7- others(43): Show c.-7-18688_-7-18687insCATATATATATATATATATATATATA	ICA1L	ENSG00000163596.17	transcript	ENST00000358299.7	protein_coding	1/12			chr2	TogoVar
ICA1L_chr2_202768176_202876766	202847703	A A	ATATATAT others(19): Show ATATATATATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0067 a0001c0001t0031g0089 a0001c0001t0031g0067 a0001c0001t0031g0089	2	330	0.0061	26	c.-7- others(43): Show c.-7-18688_-7-18687insCACATATATATATATATATATATATA	ICA1L	ENSG00000163596.17	transcript	ENST00000358299.7	protein_coding	1/12			chr2	TogoVar
ICA1_chr7_8108184_8267167	8145764	A A	ATATATAT others(19): Show ATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01978.hp2 HG00140.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0245 a0001c0001t0001g0009 a0001c0001t0001g0245	2	274	0.0073	26	c.805 others(43): Show c.805-1793_805-1792insCATATATATATATATATATATATATA	ICA1	ENSG00000003147.19	transcript	ENST00000402384.8	protein_coding	8/13			chr7	TogoVar
ICA1_chr7_8108184_8267167	8153836	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03041.hp2 NA21309.hp2 others(1): Show HG02572.hp2 HG03041.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0003 a0001c0003t0002 a0001c0001t0002 a0001c0001t0003 a0001c0003t0002	a0001c0001t0002g0088 a0001c0001t0003g0066 a0001c0001t0003g0126 others(1): Show a0001c0001t0002g0088 a0001c0001t0003g0066 a0001c0001t0003g0126 a0001c0003t0002g0102	4	274	0.0146	26	c.804 others(43): Show c.804+3279_804+3280insATATATATATATATATATATATATAT	ICA1	ENSG00000003147.19	transcript	ENST00000402384.8	protein_coding	8/13			chr7	TogoVar
ICE1_chr5_5417677_5495220	5428717	A A	ATTTTGCT others(19): Show ATTTTGCTTGCTGGCCTGGGAGTGGCT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0275 a0001c0001t0001g0275	1	364	0.0028	26	c.84+ others(41): Show c.84+5727_84+5752dupGCTGGCCTGGGAGTGGCTTTTTGCTT	ICE1	ENSG00000164151.12	transcript	ENST00000296564.9	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr5	TogoVar
IDE_chr10_92446684_92579093	92552857	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02976.hp1 NA18522.hp2 HG01891.hp1 HG02976.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0090 a0001c0001t0001g0114 a0001c0001t0001g0005 a0001c0001t0001g0090 a0001c0001t0001g0114	3	314	0.0096	26	c.99- others(43): Show c.99-15308_99-15307insTTTTTTTTTTTTTTTTTTTTTTTTTT	IDE	ENSG00000119912.18	transcript	ENST00000265986.11	protein_coding	1/24			chr10	TogoVar
IDH3A_chr15_78144362_78176945	78158448	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0090 a0001c0002t0005g0090	1	386	0.0026	26	c.174 others(41): Show c.174+833_174+834insATATATATATATATATATATATATAT	IDH3A	ENSG00000166411.14	transcript	ENST00000299518.7	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
IER3IP1_chr18_47147834_47181364	47179060	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	378	0.0027	26	c.-27 others(37): Show c.-2784_-2783insTTTTTTTTTTTTTTTTTTTTTTTTTT	IER3IP1	ENSG00000134049.6	transcript	ENST00000256433.6	protein_coding		2697		chr18	TogoVar
IFI27L2_chr14_94122781_94134604	94124920	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG01167.hp1 HG04115.hp1 others(3): Show HG00597.hp1 HG01167.hp1 HG04115.hp1 NA18964.hp1 NA18995.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0002g0013	6	433	0.0139	26	c.28 others(37): Show c.2878_*2879insAAAAAAAAAAAAAAAAAAAAAAAAAA	IFI27L2	ENSG00000119632.4	transcript	ENST00000238609.4	protein_coding		2860		chr14	TogoVar

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