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
HPGDS_chr4_94293535_94347836	94340278	T T	TTTCTTTC others(16): Show TTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	312	0.0032	23	c.-10 others(40): Show c.-10+2494_-10+2516dupGAAAGAAAGAAAGAAAGAAAGAA	HPGDS	ENSG00000163106.11	transcript	ENST00000295256.10	protein_coding	1/5			chr4	TogoVar
HPN_chr19_35036721_35071573	35048082	A A	AAGAAAGA others(16): Show AAGAAAGAAAGAAAGAAAGAAAGG	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0326 a0001c0001t0001g0326	1	384	0.0026	23	c.17- others(38): Show c.17-1207_17-1206insGAAAGAAAGAAAGAAAGAAAGGA	HPN	ENSG00000105707.15	transcript	ENST00000672452.2	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
HPSE2_chr10_98452077_99240852	98688465	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01993.hp1 NA18965.hp2 NA18974.hp2 others(2): Show HG01993.hp1 NA18965.hp2 NA18974.hp2 NA19030.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0005 a0002c0002t0002 a0001c0001t0001 a0001c0001t0005 a0002c0002t0002	a0001c0001t0001g0023 a0001c0001t0001g0052 a0001c0001t0005g0093 others(2): Show a0001c0001t0001g0023 a0001c0001t0001g0052 a0001c0001t0005g0093 a0002c0002t0002g0005 a0002c0002t0002g0016	5	142	0.0352	23	c.100 others(42): Show c.1004+5434_1004+5435insAAAAAAAAAAAAAAAAAAAAAAA	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	6/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	99132146	G G	GAAGAAGA others(16): Show GAAGAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02965.hp2 NA18522.hp1 HG02965.hp2 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0002 a0001c0001t0003 a0002c0002t0002	a0001c0001t0003g0026 a0002c0002t0002g0028 a0001c0001t0003g0026 a0002c0002t0002g0028	2	142	0.0141	23	c.610 others(42): Show c.610+12091_610+12092insTCTTTCTTTCTTTCTTTCTTCTT	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	3/11			chr10	TogoVar
HS3ST1_chr4_11388150_11433894	11429643	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp1 NA19074.hp1 NA19076.hp2 HG03540.hp1 NA19074.hp1 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0047 a0001c0001t0001 a0001c0001t0002 a0001c0001t0047	a0001c0001t0001g0300 a0001c0001t0002g0375 a0001c0001t0047g0046 a0001c0001t0001g0300 a0001c0001t0002g0375 a0001c0001t0047g0046	3	440	0.0068	23	c.-10 others(34): Show c.-1054_-1053insAAAAAAAAAAAAAAAAAAAAAAA	HS3ST1	ENSG00000002587.10	transcript	ENST00000002596.6	protein_coding		750		chr4	TogoVar
HS3ST3A1_chr17_13489032_13606929	13512305	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0299 a0001c0001t0021g0299	1	338	0.0030	23	c.600 others(42): Show c.600-15488_600-15487insTTTTTTTTTTTTTTTTTTTTTTT	HS3ST3A1	ENSG00000153976.3	transcript	ENST00000284110.2	protein_coding	1/1			chr17	TogoVar
HS3ST3A1_chr17_13489032_13606929	13585186	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp1 NA19085.hp1 HG01175.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0028 a0001c0001t0002 a0001c0001t0028	a0001c0001t0002g0190 a0001c0001t0028g0192 a0001c0001t0002g0190 a0001c0001t0028g0192	2	338	0.0059	23	c.599 others(42): Show c.599+15322_599+15344dupAAAAAAAAAAAAAAAAAAAAAAA	HS3ST3A1	ENSG00000153976.3	transcript	ENST00000284110.2	protein_coding	1/1			chr17	TogoVar
HS3ST4_chr16_25686959_26142685	25903301	T T	TATGTATA others(16): Show TATGTATATGTATATATTATATAC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0064 a0003c0003t0003g0064	1	164	0.0061	23	c.734 others(44): Show c.734+210150_734+210151insATGTATATGTATATATTATATAC	HS3ST4	ENSG00000182601.7	transcript	ENST00000331351.6	protein_coding	1/1			chr16	TogoVar
HS6ST2_chrX_132621015_132963629	132637886	A A	AATATTTT others(16): Show AATATTTTATATATTATATTATAT	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0197 a0001c0001t0002g0197	1	201	0.0050	23	c.106 others(42): Show c.1068-8794_1068-8793insATATAATATAATATATAAAATAT	HS6ST2	ENSG00000171004.19	transcript	ENST00000370833.7	protein_coding	4/4			chrX	TogoVar
HS6ST3_chr13_96085107_96844562	96304712	T T	TTTCTTTC others(16): Show TTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02965.hp2 NA18747.hp2 NA21309.hp1 HG02965.hp2 NA18747.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0018 a0001c0001t0001 a0001c0001t0018	a0001c0001t0001g0029 a0001c0001t0001g0091 a0001c0001t0018g0010 a0001c0001t0001g0029 a0001c0001t0001g0091 a0001c0001t0018g0010	3	116	0.0259	23	c.707 others(44): Show c.707+213145_707+213146insCTTTCTTTCTTTCTTTCTTTCTT	HS6ST3	ENSG00000185352.10	transcript	ENST00000376705.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr13	TogoVar
HS6ST3_chr13_96085107_96844562	96459100	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03130.hp2 NA18999.hp2 HG02895.hp1 HG03130.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0029 a0001c0001t0004 a0001c0001t0006 a0001c0001t0029	a0001c0001t0004g0026 a0001c0001t0006g0116 a0001c0001t0029g0036 a0001c0001t0004g0026 a0001c0001t0006g0116 a0001c0001t0029g0036	3	116	0.0259	23	c.707 others(44): Show c.707+367534_707+367556dupAAAAAAAAAAAAAAAAAAAAAAA	HS6ST3	ENSG00000185352.10	transcript	ENST00000376705.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr13	TogoVar
HSCB_chr22_28737039_28762510	28750945	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02056.hp2 NA18940.hp2 HG01884.hp2 HG02056.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0214 a0001c0001t0001g0231 a0001c0001t0001g0187 a0001c0001t0001g0214 a0001c0001t0001g0231	3	410	0.0073	23	c.569 others(38): Show c.569-294_569-272dupTTTTTTTTTTTTTTTTTTTTTTT	HSCB	ENSG00000100209.11	transcript	ENST00000216027.8	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr22	TogoVar
HSD17B12_chr11_43675738_43861615	43690404	A A	ATATATTT others(16): Show ATATATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0003 a0002c0002t0002g0003	1	280	0.0036	23	c.160 others(40): Show c.160+9418_160+9419insATATTTTTTTTTTTTTTTTTTTT	HSD17B12	ENSG00000149084.13	transcript	ENST00000278353.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
HSD17B12_chr11_43675738_43861615	43690404	A A	ATATTTTT others(16): Show ATATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0257 a0001c0001t0001g0257	1	280	0.0036	23	c.160 others(40): Show c.160+9418_160+9419insATTTTTTTTTTTTTTTTTTTTTT	HSD17B12	ENSG00000149084.13	transcript	ENST00000278353.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
HSD17B14_chr19_48808018_48841491	48816824	T T	TTTCTTTC others(16): Show TTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0286 a0001c0001t0001g0286	1	394	0.0025	23	c.370 others(40): Show c.370-1684_370-1683insGAAAGAAAGAAAGAAAGAAAGAA	HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	5/8			chr19	TogoVar
HSD17B3_chr9_96230306_96307176	96281927	C C	CTGCTTGT others(16): Show CTGCTTGTCTCCTCTGTAAAGTTT	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0318 a0002c0002t0002g0318	1	374	0.0027	23	c.201 others(42): Show c.201+16466_201+16488dupAAACTTTACAGAGGAGACAAGCA	HSD17B3	ENSG00000130948.10	transcript	ENST00000375263.8	protein_coding	2/10			chr9	TogoVar
HSD3B2_chr1_119410150_119428034	119423922	C C	CTTTTTCT others(16): Show CTTTTTCTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	442	0.0023	23	c.13 others(34): Show c.1302_*1303insTTTTTCTTTTTTTTTTTTTTTTT	HSD3B2	ENSG00000203859.10	transcript	ENST00000369416.4	protein_coding		889		chr1	TogoVar
HSDL1_chr16_84117141_84150177	84148596	C C	CTCTCTTT others(16): Show CTCTCTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00738.hp1 HG01070.hp2 others(10): Show HG00280.hp1 HG00738.hp1 HG01070.hp2 HG01109.hp1 HG01978.hp2 HG03831.hp1 HG04184.hp2 HG04228.hp1 NA18940.hp2 NA18998.hp2 NA19000.hp2 NA19056.hp2 NA19064.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0005 a0002c0002t0003g0017 a0002c0002t0003g0023 others(8): Show a0002c0002t0003g0005 a0002c0002t0003g0017 a0002c0002t0003g0023 a0002c0002t0003g0070 a0002c0002t0003g0071 a0002c0002t0003g0171 a0002c0002t0003g0191 a0002c0002t0003g0201 a0002c0002t0003g0217 a0002c0002t0003g0219 a0002c0002t0003g0220	13	448	0.0290	23	c.-35 others(34): Show c.-3586_-3585insAAAAAAAAAAAAAAAAAAAGAGA	HSDL1	ENSG00000103160.12	transcript	ENST00000219439.9	protein_coding		3420		chr16	TogoVar
HSDL1_chr16_84117141_84150177	84148596	C C	CTCTTTTT others(16): Show CTCTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0318 a0001c0001t0002g0318	1	448	0.0022	23	c.-35 others(34): Show c.-3586_-3585insAAAAAAAAAAAAAAAAAAAAAGA	HSDL1	ENSG00000103160.12	transcript	ENST00000219439.9	protein_coding		3420		chr16	TogoVar
HSDL1_chr16_84117141_84150177	84148596	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00408.hp2 HG01074.hp2 others(45): Show HG00280.hp2 HG00408.hp2 HG01074.hp2 HG01081.hp2 HG01361.hp1 HG01516.hp2 HG01517.hp1 HG01943.hp1 HG01975.hp1 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02040.hp1 HG02132.hp1 HG02165.hp2 HG02683.hp2 HG03041.hp1 HG03490.hp1 HG03490.hp2 HG03669.hp1 NA18747.hp2 NA18941.hp1 NA18942.hp1 NA18946.hp2 NA18953.hp2 NA18955.hp2 NA18962.hp1 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18974.hp2 NA18992.hp2 NA18995.hp2 NA19001.hp1 NA19001.hp2 NA19009.hp2 NA19012.hp1 NA19058.hp1 NA19063.hp2 NA19065.hp2 NA19076.hp2 NA19081.hp2 NA19084.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0002 a0007c0007 a0001c0001 a0002c0002 a0007c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0034 a0001c0001t0036 a0001c0001t0038 a0001c0001t0039 a0002c0002t0003 a0007c0007t0002	a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0019 others(36): Show a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0019 a0001c0001t0001g0105 a0001c0001t0001g0119 a0001c0001t0001g0142 a0001c0001t0001g0330 a0001c0001t0002g0001 a0001c0001t0002g0009 a0001c0001t0002g0015 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0232 a0001c0001t0002g0243 a0001c0001t0002g0257 a0001c0001t0002g0263 a0001c0001t0002g0267 a0001c0001t0002g0279 a0001c0001t0002g0306 a0001c0001t0002g0308 a0001c0001t0002g0314 a0001c0001t0002g0317 a0001c0001t0002g0320 a0001c0001t0002g0321 a0001c0001t0002g0326 a0001c0001t0002g0327 a0001c0001t0004g0323 a0001c0001t0007g0003 a0001c0001t0007g0129 a0001c0001t0034g0127 a0001c0001t0036g0312 a0001c0001t0038g0325 a0001c0001t0039g0278 a0002c0002t0003g0149 a0002c0002t0003g0229 a0007c0007t0002g0265	48	448	0.1071	23	c.-35 others(34): Show c.-3586_-3585insAAAAAAAAAAAAAAAAAAAAAAA	HSDL1	ENSG00000103160.12	transcript	ENST00000219439.9	protein_coding		3420		chr16	TogoVar
HSF1_chr8_144286604_144319720	144313707	G G	GCCTCCCC others(16): Show GCCTCCCCGCGCCTCCCCGCCTCC	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	330	0.0030	23	c.124 others(38): Show c.1248+93_1248+94insTCCCCGCGCCTCCCCGCCTCCCC	HSF1	ENSG00000185122.11	transcript	ENST00000528838.6	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
HSPA12A_chr10_116666192_116747566	116696002	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01433.hp1 NA18971.hp2 NA18990.hp1 others(1): Show HG01433.hp1 NA18971.hp2 NA18990.hp1 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0011 a0001c0001t0001g0124 a0001c0001t0003g0289 others(1): Show a0001c0001t0001g0011 a0001c0001t0001g0124 a0001c0001t0003g0289 a0001c0001t0003g0296	4	320	0.0125	23	c.546 others(40): Show c.546+2632_546+2633insTTTTTTTTTTTTTTTTTTTTTTT	HSPA12A	ENSG00000165868.16	transcript	ENST00000369209.8	protein_coding	5/11			chr10	TogoVar
HSPA12A_chr10_116666192_116747566	116712977	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0219 a0001c0001t0004g0219	1	320	0.0031	23	c.41- others(38): Show c.41-5693_41-5692insATATATATATATATATATATATA	HSPA12A	ENSG00000165868.16	transcript	ENST00000369209.8	protein_coding	1/11			chr10	TogoVar
HSPA2_chr14_64535741_64548237	64539576	G G	GCCGCCAC others(16): Show GCCGCCACACCCCTGTCTGCCGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02280.hp1 HG02486.hp2 others(7): Show HG02258.hp1 HG02280.hp1 HG02486.hp2 HG02559.hp1 HG02970.hp1 HG03041.hp1 HG03516.hp2 HG03579.hp1 NA19030.hp1 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0010 a0001c0002 a0003c0010	a0001c0002t0002 a0003c0010t0002 a0001c0002t0002 a0003c0010t0002	a0001c0002t0002g0000 a0003c0010t0002g0000 a0001c0002t0002g0000 a0003c0010t0002g0000	10	376	0.0266	23	c.-12 others(34): Show c.-1274_-1273insCCGCCACACCCCTGTCTGCCGTC	HSPA2	ENSG00000126803.10	transcript	ENST00000247207.7	protein_coding		1164		chr14	TogoVar
HSPA4_chr5_133047013_133111449	133085489	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0146 a0001c0001t0008g0146	1	364	0.0028	23	c.909 others(40): Show c.909-1280_909-1279insAAAAAAAAAAAAAAAAAAAAAAA	HSPA4	ENSG00000170606.16	transcript	ENST00000304858.7	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr5	TogoVar
HSPA8_chr11_123052489_123067136	123062508	G G	GAGGGGGC others(16): Show GAGGGGGCGGAAAAAGGAGGAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0004 a0001c0002t0003g0004	1	424	0.0024	23	c.-47 others(32): Show c.-473_-451dupTCCTCCTCCTTTTTCCGCCCCCT	HSPA8	ENSG00000109971.14	transcript	ENST00000534624.6	protein_coding		373		chr11	TogoVar
HTR1F_chr3_87787706_87998839	87979038	G G	GGGAGGGG others(16): Show GGGAGGGGGGGAGGGAGGGAGGGA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0033 a0001c0001t0009g0033	1	250	0.0040	23	c.-42 others(42): Show c.-42-11668_-42-11667insAGGGGGGGAGGGAGGGAGGGAGG	HTR1F	ENSG00000179097.7	transcript	ENST00000319595.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
HTR2A_chr13_46826546_46902053	46883264	A A	AAGGTTAG others(16): Show AAGGTTAGGAAGGTCCTAACCTTC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp1 HG00438.hp2 others(69): Show HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01109.hp2 HG01192.hp2 HG01981.hp1 HG01993.hp1 HG02015.hp2 HG02040.hp1 HG02055.hp2 HG02129.hp2 HG02135.hp2 HG02155.hp1 HG02257.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02886.hp2 HG02970.hp2 HG02976.hp1 HG03098.hp2 HG03486.hp2 HG03710.hp1 HG03834.hp1 HG03942.hp2 NA18612.hp1 NA18747.hp2 NA18939.hp1 NA18940.hp2 NA18941.hp2 NA18946.hp2 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp2 NA18957.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp2 NA18965.hp1 NA18967.hp1 NA18968.hp2 NA18975.hp1 NA18977.hp2 NA18979.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18995.hp2 NA18998.hp2 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp2 NA19055.hp2 NA19068.hp1 NA19078.hp2 NA19080.hp1 NA19082.hp1 NA19240.hp2 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0005 a0001c0010 others(2): Show a0001c0001 a0001c0005 a0001c0010 a0003c0006 a0003c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 a0001c0001t0012 a0001c0001t0015 a0001c0001t0026 a0001c0001t0038 a0001c0005t0007 a0001c0010t0036 a0003c0006t0001 a0003c0007t0007	a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0050 others(67): Show a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0050 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0135 a0001c0001t0001g0162 a0001c0001t0001g0297 a0001c0001t0002g0051 a0001c0001t0002g0088 a0001c0001t0002g0092 a0001c0001t0002g0096 a0001c0001t0002g0106 a0001c0001t0002g0109 a0001c0001t0002g0112 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0118 a0001c0001t0002g0120 a0001c0001t0005g0081 a0001c0001t0010g0080 a0001c0001t0010g0125 a0001c0001t0010g0129 a0001c0001t0012g0101 a0001c0001t0015g0053 a0001c0001t0015g0102 a0001c0001t0026g0018 a0001c0001t0038g0126 a0001c0005t0007g0133 a0001c0005t0007g0134 a0001c0010t0036g0110 a0003c0006t0001g0147 a0003c0006t0001g0148 a0003c0007t0007g0149 a0003c0007t0007g0150	72	336	0.2143	23	c.613 others(40): Show c.613+9125_613+9126insGAAGGTTAGGACCTTCCTAACCT	HTR2A	ENSG00000102468.11	transcript	ENST00000542664.4	protein_coding	3/3			chr13	TogoVar
HYAL1_chr3_50294893_50308574	50304296	A A	AAAAAAAA others(16): Show AAAAAAAAAAATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	384	0.0026	23	c.-85 others(32): Show c.-856_-855insATATATATATATATTTTTTTTTT	HYAL1	ENSG00000114378.17	transcript	ENST00000395144.7	protein_coding		723		chr3	TogoVar
HYAL1_chr3_50294893_50308574	50304296	A A	AAAAAAAA others(16): Show AAAAAAAAATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	384	0.0026	23	c.-85 others(32): Show c.-856_-855insATATATATATATATATTTTTTTT	HYAL1	ENSG00000114378.17	transcript	ENST00000395144.7	protein_coding		723		chr3	TogoVar
HYAL1_chr3_50294893_50308574	50304296	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	384	0.0026	23	c.-85 others(32): Show c.-856_-855insATATATATATATATATATATATA	HYAL1	ENSG00000114378.17	transcript	ENST00000395144.7	protein_coding		723		chr3	TogoVar
HYAL3_chr3_50287832_50304405	50304296	A A	AAAAAAAA others(16): Show AAAAAAAAAAATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	378	0.0027	23	c.-51 others(34): Show c.-5102_-5101insATATATATATATATTTTTTTTTT	HYAL3	ENSG00000186792.17	transcript	ENST00000336307.6	protein_coding		4892		chr3	TogoVar
HYAL3_chr3_50287832_50304405	50304296	A A	AAAAAAAA others(16): Show AAAAAAAAATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	378	0.0027	23	c.-51 others(34): Show c.-5102_-5101insATATATATATATATATTTTTTTT	HYAL3	ENSG00000186792.17	transcript	ENST00000336307.6	protein_coding		4892		chr3	TogoVar
HYDIN_chr16_70797084_71235722	70902821	A A	ATATATAT others(16): Show ATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0003 a0002c0010t0003	a0002c0010t0003g0158 a0002c0010t0003g0158	1	174	0.0058	23	c.884 others(40): Show c.8849+803_8849+804insAAAAAAAAAAATATATATATATA	HYDIN	ENSG00000157423.18	transcript	ENST00000393567.7	protein_coding	52/85			chr16	TogoVar
HYDIN_chr16_70797084_71235722	70902821	A A	ATATATAT others(16): Show ATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG04184.hp2 HG02897.hp1 HG04184.hp2	a0002 a0026 a0002 a0026	a0002c0017 a0026c0067 a0002c0017 a0026c0067	a0002c0017t0001 a0026c0067t0004 a0002c0017t0001 a0026c0067t0004	a0002c0017t0001g0069 a0026c0067t0004g0076 a0002c0017t0001g0069 a0026c0067t0004g0076	2	174	0.0115	23	c.884 others(40): Show c.8849+803_8849+804insAAAAAAAAAAAAAAATATATATA	HYDIN	ENSG00000157423.18	transcript	ENST00000393567.7	protein_coding	52/85			chr16	TogoVar
HYDIN_chr16_70797084_71235722	70902821	A A	ATATATTT others(16): Show ATATATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG02622.hp2 HG01071.hp2 HG02622.hp2	a0014 a0030 a0014 a0030	a0014c0018 a0030c0069 a0014c0018 a0030c0069	a0014c0018t0001 a0030c0069t0013 a0014c0018t0001 a0030c0069t0013	a0014c0018t0001g0120 a0030c0069t0013g0068 a0014c0018t0001g0120 a0030c0069t0013g0068	2	174	0.0115	23	c.884 others(40): Show c.8849+803_8849+804insAAAAAAAAAAAAAAAAAAATATA	HYDIN	ENSG00000157423.18	transcript	ENST00000393567.7	protein_coding	52/85			chr16	TogoVar
HYDIN_chr16_70797084_71235722	70902821	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0081 a0002c0005t0001g0081	1	174	0.0058	23	c.884 others(40): Show c.8849+803_8849+804insAAAAAAAAAAAAAAAAAAAAAAA	HYDIN	ENSG00000157423.18	transcript	ENST00000393567.7	protein_coding	52/85			chr16	TogoVar
HYDIN_chr16_70797084_71235722	70904518	T T	TTTTTTTT others(16): Show TTTTTTTTTTTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	174	0.0058	23	c.851 others(40): Show c.8517-455_8517-454insCAAAAAAAAAAAAAAAAAAAAAA	HYDIN	ENSG00000157423.18	transcript	ENST00000393567.7	protein_coding	50/85			chr16	TogoVar
HYDIN_chr16_70797084_71235722	70931210	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0031 a0031	a0031c0070 a0031c0070	a0031c0070t0001 a0031c0070t0001	a0031c0070t0001g0042 a0031c0070t0001g0042	1	174	0.0058	23	c.715 others(42): Show c.7158+4719_7158+4741dupAAAAAAAAAAAAAAAAAAAAAAA	HYDIN	ENSG00000157423.18	transcript	ENST00000393567.7	protein_coding	45/85			chr16	TogoVar
IAH1_chr2_9469551_9494742	9489259	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0106 a0001c0001t0052g0106	1	342	0.0029	23	c.93 others(32): Show c.932_*954dupTTTTTTTTTTTTTTTTTTTTTTT	IAH1	ENSG00000134330.19	transcript	ENST00000497473.6	protein_coding	6/6	955	INFO_REALIGN_3_PRIME	chr2	TogoVar
IARS1_chr9_92205207_92298697	92252764	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0039 a0001c0001t0004g0039	1	338	0.0030	23	c.222 others(40): Show c.2229+575_2229+597dupTTTTTTTTTTTTTTTTTTTTTTT	IARS1	ENSG00000196305.19	transcript	ENST00000443024.7	protein_coding	21/33			chr9	TogoVar
IARS2_chr1_220089132_220153041	220113637	A A	AGAGAGAG others(16): Show AGAGAGAGAGAGAGAGATTTATTT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02630.hp2 HG02809.hp2 others(2): Show HG01261.hp1 HG02630.hp2 HG02809.hp2 HG02896.hp1 HG03098.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0027 a0003c0003t0001g0093 a0003c0003t0001g0296 others(2): Show a0003c0003t0001g0027 a0003c0003t0001g0093 a0003c0003t0001g0296 a0003c0003t0001g0297 a0003c0003t0001g0308	5	366	0.0137	23	c.148 others(40): Show c.1480-677_1480-676insGAGAGAGAGAGAGAGATTTATTT	IARS2	ENSG00000067704.10	transcript	ENST00000366922.3	protein_coding	11/22			chr1	TogoVar
IARS2_chr1_220089132_220153041	220113637	A A	ATAGAGAG others(16): Show ATAGAGAGAGAGAGAGATTTATTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02109.hp1 HG02451.hp1 others(4): Show HG02055.hp1 HG02109.hp1 HG02451.hp1 HG02486.hp1 HG02572.hp1 HG03195.hp1 HG03579.hp2	a0003 a0005 a0003 a0005	a0003c0003 a0005c0005 a0003c0003 a0005c0005	a0003c0003t0001 a0005c0005t0001 a0003c0003t0001 a0005c0005t0001	a0003c0003t0001g0099 a0003c0003t0001g0100 a0003c0003t0001g0101 others(4): Show a0003c0003t0001g0099 a0003c0003t0001g0100 a0003c0003t0001g0101 a0003c0003t0001g0102 a0005c0005t0001g0095 a0005c0005t0001g0096 a0005c0005t0001g0337	7	366	0.0191	23	c.148 others(40): Show c.1480-670_1480-648dupGAGAGAGAGATTTATTTTAGAGA	IARS2	ENSG00000067704.10	transcript	ENST00000366922.3	protein_coding	11/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
IARS2_chr1_220089132_220153041	220113637	A A	ATATAGAG others(16): Show ATATAGAGAGAGAGAGATTTATTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02717.hp2 HG02818.hp1 others(1): Show HG01884.hp1 HG02717.hp2 HG02818.hp1 HG03540.hp1	a0003 a0005 a0003 a0005	a0003c0003 a0005c0005 a0003c0003 a0005c0005	a0003c0003t0001 a0005c0005t0001 a0003c0003t0001 a0005c0005t0001	a0003c0003t0001g0094 a0003c0003t0001g0103 a0005c0005t0001g0097 others(1): Show a0003c0003t0001g0094 a0003c0003t0001g0103 a0005c0005t0001g0097 a0005c0005t0001g0098	4	366	0.0109	23	c.148 others(40): Show c.1480-675_1480-674insTAGAGAGAGAGAGATTTATTTTA	IARS2	ENSG00000067704.10	transcript	ENST00000366922.3	protein_coding	11/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
ICAM2_chr17_63997595_64025633	64014330	G G	GGAAGGAA others(16): Show GGAAGGAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	392	0.0026	23	c.-45 others(40): Show c.-45+6192_-45+6193insTTTCTTTCTTTCTTTCTTCCTTC	ICAM2	ENSG00000108622.11	transcript	ENST00000579788.6	protein_coding	1/4			chr17	TogoVar
ICAM2_chr17_63997595_64025633	64014330	G G	GGAAGGAA others(16): Show GGAAGGAAGGAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	392	0.0026	23	c.-45 others(40): Show c.-45+6192_-45+6193insTTTCTTTCTTTCTTCCTTCCTTC	ICAM2	ENSG00000108622.11	transcript	ENST00000579788.6	protein_coding	1/4			chr17	TogoVar
IDH3A_chr15_78144362_78176945	78158463	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0022 a0001c0002t0022	a0001c0002t0022g0118 a0001c0002t0022g0118	1	386	0.0026	23	c.174 others(38): Show c.174+833_174+834insATATATATATATATATATATATT	IDH3A	ENSG00000166411.14	transcript	ENST00000299518.7	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
IDH3A_chr15_78144362_78176945	78158464	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01261.hp1 HG01361.hp2 others(1): Show HG00741.hp1 HG01261.hp1 HG01361.hp2 HG01496.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0025 a0001c0002t0002g0108 a0001c0002t0002g0114 a0001c0002t0002g0025 a0001c0002t0002g0108 a0001c0002t0002g0114	4	386	0.0104	23	c.174 others(38): Show c.174+833_174+834insATATATATATATATATATATATA	IDH3A	ENSG00000166411.14	transcript	ENST00000299518.7	protein_coding	3/10			chr15	TogoVar
IDI2_chr10_1013910_1030859	1029845	A A	ACAGTGCA others(16): Show ACAGTGCAAAAACTTTGTATTTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0004 a0001c0002t0002g0004	1	434	0.0023	23	c.-40 others(34): Show c.-4052_-4051insATAAATACAAAGTTTTTGCACTG	IDI2	ENSG00000148377.6	transcript	ENST00000277517.2	protein_coding		3987		chr10	TogoVar
IFI27L2_chr14_94122781_94134604	94124920	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG01070.hp1 HG01071.hp1 others(12): Show HG00558.hp2 HG01070.hp1 HG01071.hp1 HG02155.hp1 HG02572.hp1 HG03491.hp2 HG04184.hp2 NA18612.hp1 NA18941.hp2 NA18957.hp1 NA18971.hp1 NA19055.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005	15	433	0.0346	23	c.28 others(34): Show c.2878_*2879insAAAAAAAAAAAAAAAAAAAAAAA	IFI27L2	ENSG00000119632.4	transcript	ENST00000238609.4	protein_coding		2860		chr14	TogoVar

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