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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ 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
GAREM1_chr18_32258522_32475882	32402878	GTGGAGTG others(11): Show GTGGAGTGGACCTTTTGGT	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00735.hp2 HG01346.hp2 others(52): Show HG00323.hp1 HG00735.hp2 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01884.hp2 HG01978.hp2 HG02074.hp2 HG02145.hp1 HG02148.hp2 HG02257.hp2 HG02280.hp2 HG02615.hp2 HG02735.hp2 HG02886.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp2 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA18747.hp1 NA18939.hp1 NA18942.hp2 NA18949.hp1 NA18952.hp2 NA18954.hp2 NA18959.hp2 NA18968.hp2 NA18969.hp1 NA18973.hp1 NA18975.hp2 NA18982.hp2 NA18995.hp2 NA19001.hp2 NA19012.hp1 NA19030.hp1 NA19082.hp2 NA19085.hp2 NA20129.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0010 a0012	a0001c0004 a0001c0008 a0001c0009 others(17): Show a0001c0004 a0001c0008 a0001c0009 a0001c0017 a0001c0018 a0001c0024 a0001c0025 a0001c0031 a0002c0019 a0003c0007 a0003c0010 a0004c0023 a0005c0012 a0005c0014 a0006c0022 a0006c0030 a0007c0032 a0008c0033 a0010c0034 a0012c0029	a0001c0004t0001 a0001c0004t0005 a0001c0004t0006 others(28): Show a0001c0004t0001 a0001c0004t0005 a0001c0004t0006 a0001c0004t0027 a0001c0004t0028 a0001c0004t0033 a0001c0008t0008 a0001c0008t0014 a0001c0008t0035 a0001c0009t0001 a0001c0009t0003 a0001c0009t0013 a0001c0017t0022 a0001c0017t0036 a0001c0018t0002 a0001c0024t0017 a0001c0025t0008 a0001c0031t0024 a0002c0019t0004 a0003c0007t0002 a0003c0010t0002 a0003c0010t0031 a0004c0023t0001 a0005c0012t0005 a0005c0014t0005 a0006c0022t0020 a0006c0030t0020 a0007c0032t0016 a0008c0033t0001 a0010c0034t0005 a0012c0029t0004	a0001c0004t0001g0084 a0001c0004t0001g0104 a0001c0004t0001g0125 others(52): Show a0001c0004t0001g0084 a0001c0004t0001g0104 a0001c0004t0001g0125 a0001c0004t0001g0135 a0001c0004t0001g0152 a0001c0004t0001g0166 a0001c0004t0001g0168 a0001c0004t0005g0090 a0001c0004t0006g0095 a0001c0004t0027g0089 a0001c0004t0028g0130 a0001c0004t0033g0109 a0001c0008t0008g0019 a0001c0008t0008g0020 a0001c0008t0008g0025 a0001c0008t0008g0026 a0001c0008t0014g0012 a0001c0008t0035g0064 a0001c0009t0001g0035 a0001c0009t0001g0050 a0001c0009t0003g0011 a0001c0009t0013g0059 a0001c0017t0022g0002 a0001c0017t0036g0010 a0001c0018t0002g0003 a0001c0018t0002g0004 a0001c0024t0017g0039 a0001c0025t0008g0029 a0001c0031t0024g0086 a0002c0019t0004g0058 a0002c0019t0004g0067 a0003c0007t0002g0027 a0003c0007t0002g0028 a0003c0007t0002g0057 a0003c0007t0002g0068 a0003c0007t0002g0069 a0003c0007t0002g0070 a0003c0007t0002g0071 a0003c0010t0002g0078 a0003c0010t0002g0134 a0003c0010t0002g0167 a0003c0010t0031g0163 a0004c0023t0001g0018 a0005c0012t0005g0072 a0005c0012t0005g0073 a0005c0012t0005g0074 a0005c0014t0005g0092 a0005c0014t0005g0169 a0005c0014t0005g0170 a0006c0022t0020g0031 a0006c0030t0020g0162 a0007c0032t0016g0172 a0008c0033t0001g0171 a0010c0034t0005g0091 a0012c0029t0004g0087	55	192	0.2865	-18	c.122 others(35): Show c.122-9861_122-9844delACCAAAAGGTCCACTCCA	GAREM1	ENSG00000141441.16	transcript	ENST00000269209.7	protein_coding	1/5			chr18	TogoVar
GARIN2_chr14_67184440_67228940	67225956	TGTGTGTG others(11): Show TGTGTGTGCGCGCGCGCGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0160 a0001c0002t0001g0160	1	332	0.0030	-18	c.21 others(29): Show c.2140_*2157delGTGTGTGCGCGCGCGCGC	GARIN2	ENSG00000172717.17	transcript	ENST00000696955.1	protein_coding		2017		chr14	TogoVar
GARIN5A_chr19_50461788_50481848	50471753	CATGTGTA others(11): Show CATGTGTATACGCATACAT	C C	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0170 a0006c0009t0001g0170	1	414	0.0024	-18	c.539 others(35): Show c.539+3554_539+3571delATGTATGCGTATACACAT	GARIN5A	ENSG00000142530.11	transcript	ENST00000600100.6	protein_coding	3/4			chr19	TogoVar
GARNL3_chr9_127259774_127398660	127380200	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	300	0.0033	-18	c.216 others(37): Show c.2162-3216_2162-3199delGTGTGTGTGTGTGTGTGT	GARNL3	ENSG00000136895.19	transcript	ENST00000373387.9	protein_coding	22/27		INFO_REALIGN_3_PRIME	chr9	TogoVar
GARRE1_chr19_34249554_34360566	34290874	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01346.hp1 HG02071.hp2 others(3): Show HG01243.hp2 HG01346.hp1 HG02071.hp2 HG02074.hp1 NA18522.hp2 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0097 a0001c0001t0001g0103 others(3): Show a0001c0001t0001g0085 a0001c0001t0001g0097 a0001c0001t0001g0103 a0001c0001t0001g0115 a0001c0001t0001g0269 a0001c0001t0001g0288	6	326	0.0184	-18	c.-79 others(37): Show c.-795-8772_-795-8755delTTTTTTTTTTTTTTTTTT	GARRE1	ENSG00000166398.14	transcript	ENST00000299505.8	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
GARRE1_chr19_34249554_34360566	34307648	CATACTTA others(11): Show CATACTTATATATACATAT	C C	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01891.hp2 HG02109.hp1 others(39): Show HG00621.hp1 HG01891.hp2 HG02109.hp1 HG02129.hp1 HG02258.hp1 HG02280.hp1 HG02451.hp2 HG02572.hp1 HG02615.hp2 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp2 HG02976.hp1 HG03041.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03490.hp2 HG03492.hp2 HG03579.hp2 NA18747.hp2 NA18939.hp1 NA18942.hp1 NA18950.hp2 NA18971.hp1 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18993.hp1 NA18993.hp2 NA19004.hp2 NA19007.hp2 NA19030.hp2 NA19063.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0017 a0001c0003t0004 others(4): Show a0001c0001t0001 a0001c0001t0017 a0001c0003t0004 a0001c0003t0006 a0001c0003t0008 a0001c0003t0014 a0001c0003t0015	a0001c0001t0001g0080 a0001c0001t0001g0111 a0001c0001t0001g0215 others(39): Show a0001c0001t0001g0080 a0001c0001t0001g0111 a0001c0001t0001g0215 a0001c0001t0001g0228 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0266 a0001c0001t0001g0275 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0017g0002 a0001c0003t0004g0068 a0001c0003t0004g0069 a0001c0003t0004g0070 a0001c0003t0004g0072 a0001c0003t0004g0073 a0001c0003t0004g0074 a0001c0003t0004g0075 a0001c0003t0004g0076 a0001c0003t0004g0077 a0001c0003t0004g0078 a0001c0003t0006g0149 a0001c0003t0006g0150 a0001c0003t0006g0151 a0001c0003t0008g0079 a0001c0003t0008g0160 a0001c0003t0014g0071 a0001c0003t0015g0174	42	326	0.1288	-18	c.495 others(35): Show c.495+6730_495+6747delCATATATACTTATATATA	GARRE1	ENSG00000166398.14	transcript	ENST00000299505.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
GAS2L3_chr12_100568684_100633288	100569926	GACACACA others(11): Show GACACACACACACACACAC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02895.hp1 HG03225.hp1 others(2): Show HG02258.hp2 HG02895.hp1 HG03225.hp1 HG03453.hp1 HG06807.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0005 a0001c0003 a0002c0005	a0001c0003t0002 a0002c0005t0009 a0001c0003t0002 a0002c0005t0009	a0001c0003t0002g0191 a0002c0005t0009g0022 a0002c0005t0009g0120 others(1): Show a0001c0003t0002g0191 a0002c0005t0009g0022 a0002c0005t0009g0120 a0002c0005t0009g0121	5	402	0.0124	-18	c.-40 others(29): Show c.-4010_-3993delACACACACACACACACAC	GAS2L3	ENSG00000139354.11	transcript	ENST00000547754.6	protein_coding		3757		chr12	TogoVar
GAS2_chr11_22661611_22818001	22704588	CATATATA others(11): Show CATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0069 a0001c0001t0002g0069	1	272	0.0037	-18	c.267 others(37): Show c.267+18818_267+18835delATATATATATATATATAT	GAS2	ENSG00000148935.12	transcript	ENST00000454584.7	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr11	TogoVar
GAS6_chr13_113815549_113869076	113836267	AGGAGGAG others(11): Show AGGAGGAGGGGGAGAAGGG	A A	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG02738.hp2 HG03927.hp1 others(3): Show HG01943.hp1 HG02738.hp2 HG03927.hp1 NA19058.hp2 NA19064.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 a0001c0001t0001 a0001c0002t0001 a0001c0004t0001	a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0118 others(3): Show a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0002t0001g0116 a0001c0002t0001g0121 a0001c0004t0001g0122	6	143	0.0420	-18	c.590 others(33): Show c.590-650_590-633delCCCTTCTCCCCCTCCTCC	GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding	6/14			chr13	TogoVar
GAS6_chr13_113815549_113869076	113841726	CCACAGTT others(11): Show CCACAGTTTCCTCCATATG	C C	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	143	0.0070	-18	c.344 others(35): Show c.344-1894_344-1877delCATATGGAGGAAACTGTG	GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding	4/14			chr13	TogoVar
GAS7_chr17_9905606_10203606	9964213	GGGTGATA others(11): Show GGGTGATACCACACAGGAA	G G	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01243.hp2 others(28): Show HG01070.hp2 HG01071.hp1 HG01243.hp2 HG01884.hp1 HG01891.hp1 HG02486.hp1 HG02559.hp2 HG02572.hp1 HG02717.hp2 HG02809.hp1 HG02886.hp1 HG02895.hp2 HG02896.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA19030.hp2 NA19240.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0009 a0001c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0001t0017 a0001c0001t0018 a0001c0001t0026 a0001c0001t0033 a0001c0001t0038 a0001c0001t0040 a0001c0001t0045 a0001c0001t0063 a0001c0001t0069 a0001c0001t0070 a0001c0002t0039 a0001c0003t0004 a0001c0003t0024 a0001c0003t0030 a0001c0004t0002 a0001c0005t0003 a0001c0009t0016 a0001c0010t0028	a0001c0001t0001g0033 a0001c0001t0002g0118 a0001c0001t0003g0073 others(28): Show a0001c0001t0001g0033 a0001c0001t0002g0118 a0001c0001t0003g0073 a0001c0001t0003g0143 a0001c0001t0006g0070 a0001c0001t0006g0134 a0001c0001t0007g0010 a0001c0001t0007g0016 a0001c0001t0007g0021 a0001c0001t0011g0008 a0001c0001t0017g0004 a0001c0001t0017g0006 a0001c0001t0018g0206 a0001c0001t0018g0207 a0001c0001t0026g0048 a0001c0001t0033g0023 a0001c0001t0038g0024 a0001c0001t0040g0002 a0001c0001t0045g0069 a0001c0001t0063g0091 a0001c0001t0069g0163 a0001c0001t0070g0074 a0001c0002t0039g0001 a0001c0003t0004g0034 a0001c0003t0024g0050 a0001c0003t0030g0152 a0001c0003t0030g0156 a0001c0004t0002g0157 a0001c0005t0003g0150 a0001c0009t0016g0155 a0001c0010t0028g0169	31	218	0.1422	-18	c.472 others(35): Show c.472-4976_472-4959delTTCCTGTGTGGTATCACC	GAS7	ENSG00000007237.19	transcript	ENST00000432992.7	protein_coding	4/13			chr17	TogoVar
GAS7_chr17_9905606_10203606	10016751	AAATAATA others(11): Show AAATAATAATAATAATAAT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00558.hp2 HG01070.hp1 others(49): Show HG00323.hp1 HG00558.hp2 HG01070.hp1 HG01074.hp2 HG01099.hp1 HG01109.hp2 HG01167.hp1 HG01257.hp1 HG01433.hp2 HG01516.hp1 HG01975.hp1 HG02109.hp1 HG02109.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02602.hp2 HG02630.hp1 HG02717.hp1 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03579.hp1 HG06807.hp1 NA18747.hp1 NA18967.hp2 NA18998.hp2 NA19043.hp2 NA19056.hp1 NA19057.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA20752.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(30): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0026 a0001c0001t0028 a0001c0001t0029 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0044 a0001c0001t0046 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0070 a0001c0001t0072 a0001c0002t0001 a0001c0002t0067 a0001c0003t0014 a0001c0003t0019 a0001c0003t0030 a0001c0003t0032 a0001c0003t0035 a0001c0004t0068 a0001c0005t0003 a0001c0007t0012 a0001c0010t0028	a0001c0001t0001g0040 a0001c0001t0001g0078 a0001c0001t0001g0100 others(49): Show a0001c0001t0001g0040 a0001c0001t0001g0078 a0001c0001t0001g0100 a0001c0001t0001g0112 a0001c0001t0001g0133 a0001c0001t0001g0161 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0199 a0001c0001t0001g0209 a0001c0001t0002g0113 a0001c0001t0002g0118 a0001c0001t0002g0203 a0001c0001t0002g0212 a0001c0001t0003g0044 a0001c0001t0003g0047 a0001c0001t0003g0121 a0001c0001t0003g0138 a0001c0001t0003g0143 a0001c0001t0004g0089 a0001c0001t0006g0032 a0001c0001t0007g0016 a0001c0001t0009g0056 a0001c0001t0009g0135 a0001c0001t0010g0009 a0001c0001t0010g0020 a0001c0001t0012g0022 a0001c0001t0026g0147 a0001c0001t0028g0068 a0001c0001t0029g0122 a0001c0001t0036g0018 a0001c0001t0037g0007 a0001c0001t0038g0024 a0001c0001t0044g0154 a0001c0001t0046g0087 a0001c0001t0057g0174 a0001c0001t0058g0106 a0001c0001t0059g0151 a0001c0001t0070g0074 a0001c0001t0072g0178 a0001c0002t0001g0144 a0001c0002t0001g0215 a0001c0002t0067g0198 a0001c0003t0014g0153 a0001c0003t0019g0179 a0001c0003t0030g0152 a0001c0003t0032g0025 a0001c0003t0035g0011 a0001c0004t0068g0214 a0001c0005t0003g0150 a0001c0007t0012g0015 a0001c0010t0028g0169	52	218	0.2385	-18	c.304 others(35): Show c.304+3008_304+3025delATTATTATTATTATTATT	GAS7	ENSG00000007237.19	transcript	ENST00000432992.7	protein_coding	2/13			chr17	TogoVar
GAS7_chr17_9905606_10203606	10046800	GGAAGGAA others(11): Show GGAAGGAAGGAAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0154 a0001c0001t0044g0154	1	218	0.0046	-18	c.184 others(37): Show c.184-26921_184-26904delTCCTTCCTTCCTTCCTTC	GAS7	ENSG00000007237.19	transcript	ENST00000432992.7	protein_coding	1/13			chr17	TogoVar
GAS7_chr17_9905606_10203606	10198742	GCCGGGGC others(11): Show GCCGGGGCCGGGGCCGGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 NA20752.hp2 HG01891.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0203 a0001c0001t0004g0204 a0001c0001t0002g0203 a0001c0001t0004g0204	2	218	0.0092	-18	c.-37 others(27): Show c.-370_-353delTCCCGGCCCCGGCCCCGG	GAS7	ENSG00000007237.19	transcript	ENST00000432992.7	protein_coding		137		chr17	TogoVar
GAS8_chr16_90017680_90049960	90031862	CATGCAAG others(11): Show CATGCAAGTGAGCAGGTGG	C C	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0147 a0001c0004t0001g0147	1	390	0.0026	-18	c.288 others(33): Show c.288+380_288+397delGGTGGATGCAAGTGAGCA	GAS8	ENSG00000141013.17	transcript	ENST00000268699.9	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
GASK1A_chr3_42974311_43062715	42985546	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0101 a0002c0002t0003g0101	1	342	0.0029	-18	c.3+5 others(31): Show c.3+5925_3+5942delTGTGTGTGTGTGTGTGTG	GASK1A	ENSG00000144649.10	transcript	ENST00000430121.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
GATAD2B_chr1_153799725_153927972	153881790	TGTGTGTG others(11): Show TGTGTGTGTGTGGAGGGTC	T T	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0136 a0001c0001t0004g0136	1	349	0.0029	-18	c.-2+ others(35): Show c.-2+40925_-2+40942delGACCCTCCACACACACAC	GATAD2B	ENSG00000143614.11	transcript	ENST00000368655.5	protein_coding	1/10			chr1	TogoVar
GATB_chr4_151665504_151766007	151731088	TCCCTCCC others(11): Show TCCCTCCCCCTCCCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02896.hp1 HG02897.hp2 others(1): Show HG02818.hp2 HG02896.hp1 HG02897.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 others(1): Show a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309	4	320	0.0125	-18	c.328 others(37): Show c.328-11568_328-11551delGGAAGGGGAGGGGGAGGG	GATB	ENSG00000059691.12	transcript	ENST00000263985.11	protein_coding	2/12			chr4	TogoVar
GATD1_chr11_762222_782487	762423	CTGAACAC others(11): Show CTGAACACATCTGCTGCTA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG02895.hp2 HG02886.hp1 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0015 a0001c0001t0005g0015	2	430	0.0047	-18	c.84 others(29): Show c.8456_*8473delTAGCAGCAGATGTGTTCA	GATD1	ENSG00000177225.17	transcript	ENST00000319863.13	protein_coding		4798		chr11	TogoVar
GBE1_chr3_81484703_81766645	81494879	TTATTTTC others(11): Show TTATTTTCCTCTAGGACTG	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0049 a0002c0002t0001g0049	1	304	0.0033	-18	c.205 others(37): Show c.2052+4213_2052+4230delCAGTCCTAGAGGAAAATA	GBE1	ENSG00000114480.13	transcript	ENST00000429644.7	protein_coding	15/15			chr3	TogoVar
GBE1_chr3_81484703_81766645	81547625	TTCTCTCT others(11): Show TTCTCTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02451.hp1 HG02615.hp1 others(4): Show HG02055.hp2 HG02451.hp1 HG02615.hp1 HG02717.hp1 HG02965.hp2 NA19060.hp2 NA19074.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0010 a0001c0004t0007 a0002c0002t0001 a0001c0001t0010 a0001c0004t0007 a0002c0002t0001	a0001c0001t0010g0257 a0001c0001t0010g0258 a0001c0004t0007g0298 others(4): Show a0001c0001t0010g0257 a0001c0001t0010g0258 a0001c0004t0007g0298 a0001c0004t0007g0299 a0001c0004t0007g0303 a0002c0002t0001g0072 a0002c0002t0001g0090	7	304	0.0230	-18	c.161 others(39): Show c.1619-10548_1619-10531delGAGAGAGAGAGAGAGAGA	GBE1	ENSG00000114480.13	transcript	ENST00000429644.7	protein_coding	12/15			chr3	TogoVar
GBE1_chr3_81484703_81766645	81628742	CATATATA others(11): Show CATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0259 a0001c0001t0016g0259	1	304	0.0033	-18	c.992 others(37): Show c.992+14021_992+14038delATATATATATATATATAT	GBE1	ENSG00000114480.13	transcript	ENST00000429644.7	protein_coding	7/15			chr3	TogoVar
GBE1_chr3_81484703_81766645	81702098	AGAGAGTG others(11): Show AGAGAGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03098.hp2 HG03516.hp2 HG03041.hp1 HG03098.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254	3	304	0.0099	-18	c.313 others(35): Show c.313+3328_313+3345delACACACACACACACTCTC	GBE1	ENSG00000114480.13	transcript	ENST00000429644.7	protein_coding	2/15			chr3	TogoVar
GBE1_chr3_81484703_81766645	81702100	AGAGTGTG others(11): Show AGAGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02886.hp1 HG01099.hp2 HG02886.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0011c0010 a0001c0001 a0011c0010	a0001c0001t0002 a0011c0010t0002 a0001c0001t0002 a0011c0010t0002	a0001c0001t0002g0251 a0011c0010t0002g0191 a0001c0001t0002g0251 a0011c0010t0002g0191	2	304	0.0066	-18	c.313 others(35): Show c.313+3326_313+3343delACACACACACACACACTC	GBE1	ENSG00000114480.13	transcript	ENST00000429644.7	protein_coding	2/15			chr3	TogoVar
GBE1_chr3_81484703_81766645	81702102	AGTGTGTG others(11): Show AGTGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02615.hp1 HG03239.hp1 HG02451.hp1 HG02615.hp1 HG03239.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0002 a0001c0004 a0002c0002	a0001c0004t0007 a0002c0002t0001 a0001c0004t0007 a0002c0002t0001	a0001c0004t0007g0298 a0001c0004t0007g0303 a0002c0002t0001g0106 a0001c0004t0007g0298 a0001c0004t0007g0303 a0002c0002t0001g0106	3	304	0.0099	-18	c.313 others(35): Show c.313+3324_313+3341delACACACACACACACACAC	GBE1	ENSG00000114480.13	transcript	ENST00000429644.7	protein_coding	2/15			chr3	TogoVar
GBP1_chr1_89047319_89070208	89064199	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0182 a0003c0003t0003g0182	1	430	0.0023	-18	c.-20 others(33): Show c.-20+943_-19-947delCACACACACACACACACA	GBP1	ENSG00000117228.11	transcript	ENST00000370473.5	protein_coding	1/10			chr1	TogoVar
GBP1_chr1_89047319_89070208	89064224	TGTGTGTG others(11): Show TGTGTGTGTGTGTGTGTGA	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0007 a0003c0003t0007	a0003c0003t0007g0152 a0003c0003t0007g0152	1	430	0.0023	-18	c.-20 others(33): Show c.-20+918_-20+935delTCACACACACACACACAC	GBP1	ENSG00000117228.11	transcript	ENST00000370473.5	protein_coding	1/10			chr1	TogoVar
GBP6_chr1_89359059_89393160	89385537	GCAAGTTT others(11): Show GCAAGTTTTTTTTTTTTTT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0002 a0001c0001t0032g0002	1	452	0.0022	-18	c.71 others(25): Show c.71_*88delAGTTTTTTTTTTTTTTCA	GBP6	ENSG00000183347.15	transcript	ENST00000370456.5	protein_coding	11/11	71	INFO_REALIGN_3_PRIME	chr1	TogoVar
GCH1_chr14_54837017_54907826	54838219	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG01496.hp2 HG02273.hp1 others(2): Show HG00738.hp2 HG01496.hp2 HG02273.hp1 HG02273.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0086 a0001c0001t0001g0136 a0001c0001t0001g0154 others(2): Show a0001c0001t0001g0086 a0001c0001t0001g0136 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0003t0001g0304	5	346	0.0145	-18	c.57 others(29): Show c.5780_*5797delTTTTTTTTTTTTTTTTTT	GCH1	ENSG00000131979.20	transcript	ENST00000491895.7	protein_coding		3797		chr14	TogoVar
GCK_chr7_44139275_44194439	44174854	CTCTTCTT others(11): Show CTCTTCTTCTTCTTCTTCT	C C	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02109.hp1 HG02572.hp1 others(5): Show HG00741.hp2 HG02109.hp1 HG02572.hp1 HG02717.hp2 HG02965.hp2 HG03486.hp2 HG03540.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0115 a0001c0001t0002g0143 a0001c0001t0005g0114 others(5): Show a0001c0001t0002g0115 a0001c0001t0002g0143 a0001c0001t0005g0114 a0001c0001t0005g0144 a0001c0001t0005g0145 a0001c0001t0005g0146 a0001c0001t0005g0225 a0001c0001t0005g0237	8	392	0.0204	-18	c.45+ others(35): Show c.45+14037_45+14054delAGAAGAAGAAGAAGAAGA	GCK	ENSG00000106633.18	transcript	ENST00000403799.8	protein_coding	1/9			chr7	TogoVar
GCLC_chr6_53492341_53550101	53540667	CCACACAC others(11): Show CCACACACACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03225.hp1 HG03139.hp2 HG03225.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0017 a0003c0005t0001 a0003c0005t0017	a0003c0005t0001g0294 a0003c0005t0017g0029 a0003c0005t0001g0294 a0003c0005t0017g0029	2	426	0.0047	-18	c.150 others(35): Show c.150+3811_150+3828delTGTGTGTGTGTGTGTGTG	GCLC	ENSG00000001084.13	transcript	ENST00000650454.1	protein_coding	1/15			chr6	TogoVar
GCM1_chr6_53121961_53153841	53142000	GAAAAAAA others(11): Show GAAAAAAAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0289 a0001c0001t0008g0289	1	412	0.0024	-18	c.75+ others(33): Show c.75+3540_75+3557delTTTTTTTTTTTTTTTTTT	GCM1	ENSG00000137270.11	transcript	ENST00000259803.8	protein_coding	2/5			chr6	TogoVar
GCM1_chr6_53121961_53153841	53142870	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG03540.hp1 NA19011.hp2 HG00621.hp2 HG03540.hp1 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0015 a0001c0001t0002 a0001c0001t0009 a0001c0001t0015	a0001c0001t0002g0171 a0001c0001t0009g0170 a0001c0001t0015g0306 a0001c0001t0002g0171 a0001c0001t0009g0170 a0001c0001t0015g0306	3	412	0.0073	-18	c.75+ others(33): Show c.75+2670_75+2687delTTTTTTTTTTTTTTTTTT	GCM1	ENSG00000137270.11	transcript	ENST00000259803.8	protein_coding	2/5			chr6	TogoVar
GCM2_chr6_10868223_10887041	10871865	GATATATA others(11): Show GATATATATATATATATAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00408.hp2 HG00438.hp1 others(89): Show HG00140.hp2 HG00408.hp2 HG00438.hp1 HG00597.hp2 HG00609.hp2 HG00673.hp2 HG01106.hp2 HG01175.hp2 HG01256.hp1 HG01261.hp1 HG01346.hp2 HG01433.hp1 HG01516.hp1 HG01928.hp1 HG01975.hp1 HG02015.hp1 HG02040.hp1 HG02056.hp1 HG02071.hp2 HG02083.hp1 HG02129.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02293.hp2 HG02602.hp1 HG02698.hp1 HG02738.hp1 HG03017.hp1 HG03225.hp1 HG03239.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03654.hp1 HG03927.hp1 HG04228.hp1 NA18612.hp1 NA18747.hp2 NA18944.hp2 NA18945.hp2 NA18946.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18956.hp1 NA18957.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18968.hp1 NA18969.hp2 NA18975.hp2 NA18977.hp2 NA18982.hp2 NA18984.hp2 NA18986.hp2 NA18987.hp1 NA18989.hp2 NA18990.hp2 NA18991.hp1 NA18992.hp1 NA18993.hp2 NA18994.hp2 NA18998.hp1 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19003.hp2 NA19006.hp1 NA19010.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19064.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19077.hp1 NA19080.hp1 NA19082.hp1 NA19086.hp1 NA19090.hp1 NA19090.hp2 NA20129.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0015 a0001c0001 a0001c0004 a0001c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0004t0001 a0001c0015t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0023 others(14): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0088 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0002g0045 a0001c0001t0002g0123 a0001c0001t0002g0125 a0001c0001t0005g0075 a0001c0004t0001g0015 a0001c0004t0001g0127 a0001c0015t0001g0131	92	426	0.2160	-18	c.21 others(29): Show c.2112_*2129delATATATATATATATATAT	GCM2	ENSG00000124827.7	transcript	ENST00000379491.5	protein_coding		1357		chr6	TogoVar
GCM2_chr6_10868223_10887041	10881551	GGTATGTG others(11): Show GGTATGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00323.hp1 others(38): Show HG00099.hp2 HG00280.hp1 HG00323.hp1 HG00423.hp2 HG00597.hp1 HG00733.hp1 HG00733.hp2 HG01070.hp1 HG01168.hp1 HG01175.hp1 HG01192.hp2 HG01243.hp2 HG01257.hp2 HG01433.hp2 HG02155.hp2 HG02300.hp1 HG02698.hp2 HG03704.hp1 HG03710.hp2 NA18940.hp2 NA18956.hp2 NA18960.hp2 NA18969.hp1 NA18970.hp1 NA18983.hp1 NA18983.hp2 NA18991.hp2 NA18998.hp1 NA19003.hp1 NA19012.hp1 NA19062.hp1 NA19063.hp1 NA19077.hp2 NA19080.hp2 NA19084.hp1 NA19088.hp2 NA20300.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0024 a0001c0001t0002g0121 others(5): Show a0001c0001t0002g0002 a0001c0001t0002g0024 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126	41	426	0.0962	-18	c.90+ others(31): Show c.90+135_90+152delACACACACACACACATAC	GCM2	ENSG00000124827.7	transcript	ENST00000379491.5	protein_coding	1/4			chr6	TogoVar
GCM2_chr6_10868223_10887041	10881554	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp1 HG00438.hp2 others(97): Show HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00609.hp2 HG00673.hp2 HG01074.hp2 HG01106.hp2 HG01175.hp2 HG01192.hp1 HG01256.hp1 HG01261.hp1 HG01346.hp2 HG01433.hp1 HG01928.hp1 HG01975.hp1 HG02015.hp1 HG02040.hp1 HG02056.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp1 HG02129.hp2 HG02132.hp1 HG02155.hp1 HG02165.hp2 HG02280.hp2 HG02293.hp2 HG02523.hp2 HG02622.hp2 HG02738.hp1 HG02965.hp1 HG03139.hp1 HG03209.hp1 HG03239.hp1 HG03491.hp1 HG03540.hp1 HG03654.hp1 HG03834.hp1 HG03927.hp1 HG04228.hp1 NA18612.hp1 NA18747.hp2 NA18939.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp2 NA18948.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18956.hp1 NA18957.hp1 NA18963.hp1 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18969.hp2 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp2 NA18982.hp2 NA18984.hp2 NA18986.hp2 NA18987.hp1 NA18989.hp1 NA18990.hp2 NA18991.hp1 NA18992.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19003.hp2 NA19006.hp1 NA19010.hp2 NA19054.hp1 NA19056.hp2 NA19059.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19064.hp2 NA19068.hp1 NA19068.hp2 NA19072.hp1 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19077.hp1 NA19082.hp1 NA19085.hp1 NA19086.hp1 NA19090.hp1 NA19090.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0015 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0004t0001 a0001c0015t0001 a0002c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0026 a0001c0001t0001g0033 others(8): Show a0001c0001t0001g0001 a0001c0001t0001g0026 a0001c0001t0001g0033 a0001c0001t0001g0047 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0002g0033 a0001c0002t0001g0025 a0001c0004t0001g0015 a0001c0015t0001g0131 a0002c0003t0001g0014	100	426	0.2347	-18	c.90+ others(31): Show c.90+132_90+149delCACACACACACACACACA	GCM2	ENSG00000124827.7	transcript	ENST00000379491.5	protein_coding	1/4			chr6	TogoVar
GCN1_chr12_120122202_120199715	120169276	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0232	1	312	0.0032	-18	c.151 others(35): Show c.1519+875_1519+892delTTTTTTTTTTTTTTTTTT	GCN1	ENSG00000089154.11	transcript	ENST00000300648.7	protein_coding	15/57			chr12	TogoVar
GCNA_chrX_71573437_71618583	71589450	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00735.hp2 HG01081.hp1 others(21): Show HG00140.hp1 HG00735.hp2 HG01081.hp1 HG01515.hp1 HG01517.hp1 HG02486.hp1 HG02559.hp1 HG02615.hp2 HG02630.hp1 HG02895.hp1 HG02897.hp1 HG02976.hp1 HG03195.hp1 NA18522.hp1 NA18747.hp1 NA18944.hp1 NA18999.hp1 NA19004.hp1 NA19006.hp1 NA19043.hp1 NA19057.hp2 NA19062.hp1 NA19067.hp1 NA19240.hp1	a0001 a0003 a0009 a0001 a0003 a0009	a0001c0001 a0003c0003 a0009c0012 a0001c0001 a0003c0003 a0009c0012	a0001c0001t0001 a0003c0003t0001 a0009c0012t0001 a0001c0001t0001 a0003c0003t0001 a0009c0012t0001	a0001c0001t0001g0008 a0001c0001t0001g0023 a0001c0001t0001g0040 others(18): Show a0001c0001t0001g0008 a0001c0001t0001g0023 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0121 a0001c0001t0001g0128 a0001c0001t0001g0133 a0001c0001t0001g0155 a0001c0001t0001g0163 a0001c0001t0001g0167 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0177 a0001c0001t0001g0194 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0003c0003t0001g0122 a0003c0003t0001g0123 a0003c0003t0001g0169 a0009c0012t0001g0164	24	265	0.0906	-18	c.60- others(33): Show c.60-2656_60-2639delTTTTTTTTTTTTTTTTTT	GCNA	ENSG00000147174.12	transcript	ENST00000373696.8	protein_coding	2/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
GCNT2_chr6_10516351_10634368	10585028	AGTCAGTG others(11): Show AGTCAGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG02630.hp1 NA19043.hp1 HG02630.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0226 a0001c0001t0011g0001 a0001c0001t0001g0226 a0001c0001t0011g0001	2	324	0.0062	-18	c.926 others(37): Show c.926-36320_926-36303delCAGTGTGTGTGTGTGTGT	GCNT2	ENSG00000111846.20	transcript	ENST00000495262.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
GCNT2_chr6_10516351_10634368	10585032	AGTGTGTG others(11): Show AGTGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG06807.hp1 NA19030.hp1 HG02896.hp1 HG06807.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 a0001c0001t0001 a0001c0001t0004 a0001c0001t0009	a0001c0001t0001g0215 a0001c0001t0004g0069 a0001c0001t0009g0006 a0001c0001t0001g0215 a0001c0001t0004g0069 a0001c0001t0009g0006	3	324	0.0093	-18	c.926 others(37): Show c.926-36289_926-36272delTGTGTGTGTGTGTGTGTG	GCNT2	ENSG00000111846.20	transcript	ENST00000495262.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
GCNT2_chr6_10550809_10634368	10585028	AGTCAGTG others(11): Show AGTCAGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 NA19043.hp1 HG02630.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0308 a0001c0001t0001g0090 a0001c0001t0001g0308	2	344	0.0058	-18	c.919 others(37): Show c.919+27689_919+27706delCAGTGTGTGTGTGTGTGT	GCNT2	ENSG00000111846.20	transcript	ENST00000316170.9	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
GCNT2_chr6_10550809_10634368	10585032	AGTGTGTG others(11): Show AGTGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG06807.hp1 NA18994.hp1 others(1): Show HG02896.hp2 HG06807.hp1 NA18994.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0001 a0001c0001t0003 a0001c0001t0008	a0001c0001t0001g0109 a0001c0001t0001g0302 a0001c0001t0003g0300 others(1): Show a0001c0001t0001g0109 a0001c0001t0001g0302 a0001c0001t0003g0300 a0001c0001t0008g0335	4	344	0.0116	-18	c.919 others(37): Show c.919+27720_919+27737delTGTGTGTGTGTGTGTGTG	GCNT2	ENSG00000111846.20	transcript	ENST00000316170.9	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
GCNT3_chr15_59606783_59627723	59610848	CCCTCCTT others(11): Show CCCTCCTTCCCTCCCCCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02818.hp2 HG02896.hp1 HG02615.hp1 HG02818.hp2 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0066 a0001c0001t0006 a0001c0001t0066	a0001c0001t0006g0001 a0001c0001t0006g0078 a0001c0001t0066g0001 a0001c0001t0006g0001 a0001c0001t0006g0078 a0001c0001t0066g0001	3	428	0.0070	-18	c.-13 others(29): Show c.-1383_-1366delCCTCCTTCCCTCCCCCTT	GCNT3	ENSG00000140297.13	transcript	ENST00000396065.3	protein_coding		934		chr15	TogoVar
GCNT3_chr15_59606783_59627723	59613561	TAAATAAA others(11): Show TAAATAAATAAATAAATAA	T T	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03209.hp1 HG02818.hp1 HG03209.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0041 a0002c0004t0042 a0002c0004t0041 a0002c0004t0042	a0002c0004t0041g0054 a0002c0004t0042g0053 a0002c0004t0041g0054 a0002c0004t0042g0053	2	428	0.0047	-18	c.-25 others(37): Show c.-251+1588_-251+1605delTAAATAAATAAAAATAAA	GCNT3	ENSG00000140297.13	transcript	ENST00000396065.3	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr15	TogoVar
GCSH_chr16_81076945_81101395	81079747	AAAAAAAA others(11): Show AAAAAAAAAAAAGAAAAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02559.hp2 HG02886.hp2 others(2): Show HG02055.hp2 HG02559.hp2 HG02886.hp2 HG02970.hp2 HG03486.hp2	a0003 a0005 a0003 a0005	a0003c0003 a0005c0006 a0003c0003 a0005c0006	a0003c0003t0006 a0005c0006t0013 a0003c0003t0006 a0005c0006t0013	a0003c0003t0006g0021 a0003c0003t0006g0152 a0003c0003t0006g0153 others(1): Show a0003c0003t0006g0021 a0003c0003t0006g0152 a0003c0003t0006g0153 a0005c0006t0013g0098	5	354	0.0141	-18	c.31 others(29): Show c.3101_*3118delCTTTTTCTTTTTTTTTTT	GCSH	ENSG00000140905.11	transcript	ENST00000315467.9	protein_coding		2197		chr16	TogoVar
GC_chr4_71736697_71789079	71780844	AGAACTGG others(11): Show AGAACTGGAAATACCATTT	A A	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0325 a0001c0001t0002g0325	1	388	0.0026	-18	c.58+ others(33): Show c.58+3099_58+3116delAAATGGTATTTCCAGTTC	GC	ENSG00000145321.13	transcript	ENST00000273951.13	protein_coding	1/12			chr4	TogoVar
GDAP1L1_chr20_44242308_44285947	44255541	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp2 HG00558.hp1 others(77): Show HG00140.hp2 HG00423.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00642.hp1 HG00673.hp2 HG00735.hp1 HG01192.hp1 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01516.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01975.hp1 HG01978.hp1 HG02015.hp2 HG02027.hp2 HG02074.hp2 HG02129.hp1 HG02148.hp1 HG02273.hp2 HG02300.hp2 HG02523.hp2 HG02683.hp2 HG02735.hp1 HG02738.hp2 HG03017.hp2 HG03704.hp1 HG03942.hp2 HG04199.hp2 HG04228.hp1 NA18940.hp2 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18947.hp1 NA18948.hp1 NA18952.hp1 NA18954.hp2 NA18957.hp1 NA18959.hp2 NA18960.hp1 NA18961.hp1 NA18964.hp1 NA18967.hp1 NA18968.hp2 NA18973.hp2 NA18977.hp1 NA18981.hp1 NA18983.hp2 NA18986.hp1 NA18988.hp2 NA18990.hp1 NA18992.hp2 NA18995.hp2 NA18999.hp1 NA19003.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp2 NA19056.hp2 NA19063.hp2 NA19065.hp1 NA19066.hp2 NA19068.hp2 NA19076.hp2 NA19084.hp1 NA19088.hp1 NA19089.hp2 NA19091.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0001 a0001c0001t0015	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(43): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0110 a0001c0001t0001g0188 a0001c0001t0015g0001	80	392	0.2041	-18	c.181 others(35): Show c.181-1599_181-1582delAAAAAAAAAAAAAAAAAA	GDAP1L1	ENSG00000124194.17	transcript	ENST00000342560.10	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
GDA_chr9_72144440_72257224	72157497	TTACTGGC others(11): Show TTACTGGCCTTTCCAGGCA	T T	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	312	0.0032	-18	c.123 others(35): Show c.123+7816_123+7833delTACTGGCCTTTCCAGGCA	GDA	ENSG00000119125.17	transcript	ENST00000358399.8	protein_coding	1/13			chr9	TogoVar
GDA_chr9_72144440_72257224	72225998	TGTGTGTG others(11): Show TGTGTGTGTGTGTGTGTGC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp2 HG02630.hp1 others(1): Show HG01884.hp2 HG02055.hp2 HG02630.hp1 HG02965.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0002c0002t0008 a0001c0001t0002 a0002c0002t0001 a0002c0002t0008	a0001c0001t0002g0146 a0001c0001t0002g0213 a0002c0002t0001g0138 others(1): Show a0001c0001t0002g0146 a0001c0001t0002g0213 a0002c0002t0001g0138 a0002c0002t0008g0292	4	312	0.0128	-18	c.822 others(33): Show c.822+232_822+249delCGTGTGTGTGTGTGTGTG	GDA	ENSG00000119125.17	transcript	ENST00000358399.8	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
GDF5_chr20_35428347_35443228	35435450	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG02145.hp2 HG02257.hp2 others(10): Show HG00323.hp1 HG02145.hp2 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02486.hp1 HG02698.hp1 HG02735.hp1 HG02735.hp2 HG02896.hp1 HG02976.hp1 NA19043.hp2 NA21309.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0008 a0001c0001 a0002c0002 a0005c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0002c0002t0002 a0005c0008t0002	a0001c0001t0001g0023 a0001c0001t0002g0017 a0001c0001t0002g0027 others(3): Show a0001c0001t0001g0023 a0001c0001t0002g0017 a0001c0001t0002g0027 a0001c0001t0005g0066 a0002c0002t0002g0045 a0005c0008t0002g0064	13	360	0.0361	-18	c.632 others(33): Show c.632-685_632-668delTTTTTTTTTTTTTTTTTT	GDF5	ENSG00000125965.9	transcript	ENST00000374369.8	protein_coding	1/1			chr20	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)