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
GABBR2_chr9_98283109_98713935	98429121	G G	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03831.hp1 NA18984.hp2 HG03831.hp1 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0012 a0001c0002t0005 a0001c0001t0012 a0001c0002t0005	a0001c0001t0012g0117 a0001c0002t0005g0155 a0001c0001t0012g0117 a0001c0002t0005g0155	2	164	0.0122	18	c.123 others(39): Show c.1237-22998_1237-22981dupACACACACACACACACAC	GABBR2	ENSG00000136928.7	transcript	ENST00000259455.4	protein_coding	7/18			chr9	TogoVar
GABBR2_chr9_98283109_98713935	98492349	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 NA18969.hp1 NA18982.hp1 others(1): Show HG01109.hp1 NA18969.hp1 NA18982.hp1 NA18994.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0010 a0001c0001 a0001c0002 a0002c0010	a0001c0001t0041 a0001c0002t0001 a0001c0002t0012 others(1): Show a0001c0001t0041 a0001c0002t0001 a0001c0002t0012 a0002c0010t0007	a0001c0001t0041g0084 a0001c0002t0001g0157 a0001c0002t0012g0097 others(1): Show a0001c0001t0041g0084 a0001c0002t0001g0157 a0001c0002t0012g0097 a0002c0010t0007g0028	4	164	0.0244	18	c.732 others(35): Show c.732+4046_732+4063dupTTTTTTTTTTTTTTTTTT	GABBR2	ENSG00000136928.7	transcript	ENST00000259455.4	protein_coding	4/18			chr9	TogoVar
GABBR2_chr9_98283109_98713935	98648116	T T	TGTGTGTA others(11): Show TGTGTGTATAGATAGATAG	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02109.hp2 HG02258.hp1 others(1): Show HG00735.hp2 HG02109.hp2 HG02258.hp1 HG03041.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0015 others(1): Show a0001c0001 a0001c0002 a0001c0015 a0002c0016	a0001c0001t0035 a0001c0002t0008 a0001c0015t0014 others(1): Show a0001c0001t0035 a0001c0002t0008 a0001c0015t0014 a0002c0016t0027	a0001c0001t0035g0047 a0001c0002t0008g0133 a0001c0015t0014g0039 others(1): Show a0001c0001t0035g0047 a0001c0002t0008g0133 a0001c0015t0014g0039 a0002c0016t0027g0048	4	164	0.0244	18	c.321 others(37): Show c.321+60300_321+60301insCTATCTATCTATACACAC	GABBR2	ENSG00000136928.7	transcript	ENST00000259455.4	protein_coding	1/18			chr9	TogoVar
GABBR2_chr9_98283109_98713935	98648116	T T	TGTGTGTG others(11): Show TGTGTGTGTGTATAGATAG	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG03239.hp2 HG01975.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0012 a0001c0002t0018 a0001c0001t0012 a0001c0002t0018	a0001c0001t0012g0069 a0001c0002t0018g0093 a0001c0001t0012g0069 a0001c0002t0018g0093	2	164	0.0122	18	c.321 others(37): Show c.321+60300_321+60301insCTATCTATACACACACAC	GABBR2	ENSG00000136928.7	transcript	ENST00000259455.4	protein_coding	1/18			chr9	TogoVar
GABBR2_chr9_98283109_98713935	98648116	T T	TGTGTGTG others(11): Show TGTGTGTGTGTGTGTATAG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01257.hp2 HG01496.hp2 others(1): Show HG01109.hp1 HG01257.hp2 HG01496.hp2 NA19010.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0010 a0001c0001 a0001c0003 a0002c0010	a0001c0001t0019 a0001c0001t0041 a0001c0003t0001 others(1): Show a0001c0001t0019 a0001c0001t0041 a0001c0003t0001 a0002c0010t0004	a0001c0001t0019g0126 a0001c0001t0041g0084 a0001c0003t0001g0099 others(1): Show a0001c0001t0019g0126 a0001c0001t0041g0084 a0001c0003t0001g0099 a0002c0010t0004g0082	4	164	0.0244	18	c.321 others(37): Show c.321+60300_321+60301insCTATACACACACACACAC	GABBR2	ENSG00000136928.7	transcript	ENST00000259455.4	protein_coding	1/18			chr9	TogoVar
GABBR2_chr9_98283109_98713935	98713794	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG02109.hp1 HG02145.hp2 others(11): Show HG00621.hp1 HG02109.hp1 HG02145.hp2 HG03098.hp1 HG03486.hp2 HG04184.hp1 HG04184.hp2 HG04228.hp2 NA18963.hp2 NA18964.hp1 NA18967.hp1 NA18995.hp1 NA18995.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0002c0006 a0002c0008 a0002c0011 a0002c0014 a0002c0016 a0002c0017 a0002c0019	a0001c0001t0001 a0001c0001t0005 a0001c0001t0039 others(11): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0039 a0001c0001t0043 a0001c0002t0008 a0001c0003t0008 a0002c0006t0004 a0002c0008t0004 a0002c0008t0020 a0002c0011t0020 a0002c0014t0002 a0002c0016t0044 a0002c0017t0002 a0002c0019t0006	a0001c0001t0001g0150 a0001c0001t0005g0143 a0001c0001t0039g0139 others(11): Show a0001c0001t0001g0150 a0001c0001t0005g0143 a0001c0001t0039g0139 a0001c0001t0043g0077 a0001c0002t0008g0103 a0001c0003t0008g0089 a0002c0006t0004g0145 a0002c0008t0004g0086 a0002c0008t0020g0085 a0002c0011t0020g0104 a0002c0014t0002g0050 a0002c0016t0044g0134 a0002c0017t0002g0019 a0002c0019t0006g0067	14	164	0.0854	18	c.-50 others(29): Show c.-5058_-5057insTTTTTTTTTTTTTTTTTT	GABBR2	ENSG00000136928.7	transcript	ENST00000259455.4	protein_coding		4860		chr9	TogoVar
GABPB1_chr15_50270389_50360198	50282560	G G	GAAAAAAA others(11): Show GAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00735.hp1 HG01069.hp2 others(11): Show HG00544.hp1 HG00735.hp1 HG01069.hp2 HG01099.hp2 HG01106.hp2 HG01175.hp2 HG01261.hp2 HG01361.hp1 HG02109.hp2 HG02622.hp2 HG03688.hp1 HG03927.hp2 NA18949.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 a0001c0001t0012	a0001c0001t0001g0260 a0001c0001t0001g0284 a0001c0001t0001g0305 others(11): Show a0001c0001t0001g0260 a0001c0001t0001g0284 a0001c0001t0001g0305 a0001c0001t0004g0252 a0001c0001t0004g0253 a0001c0001t0004g0268 a0001c0001t0004g0285 a0001c0001t0004g0289 a0001c0001t0004g0293 a0001c0001t0004g0297 a0001c0001t0004g0307 a0001c0001t0004g0308 a0001c0001t0010g0296 a0001c0001t0012g0295	14	366	0.0383	18	c.999 others(35): Show c.999+3507_999+3508insTTTTTTTTTTTTTTTTTT	GABPB1	ENSG00000104064.18	transcript	ENST00000380877.8	protein_coding	8/8			chr15	TogoVar
GABPB1_chr15_50270389_50360198	50337075	G G	GTATATAT others(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0249 a0001c0001t0006g0249	1	366	0.0027	18	c.-1+ others(35): Show c.-1+17892_-1+17909dupTATATATATATATATATA	GABPB1	ENSG00000104064.18	transcript	ENST00000380877.8	protein_coding	1/8			chr15	TogoVar
GABPB2_chr1_151065761_151130542	151070178	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp2 HG04184.hp1 HG02698.hp2 HG04184.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0035 a0002c0002t0010 a0002c0002t0035	a0002c0002t0010g0079 a0002c0002t0035g0085 a0002c0002t0010g0079 a0002c0002t0035g0085	2	264	0.0076	18	c.-75 others(27): Show c.-757_-756insAAAAAAAAAAAAAAAAAA	GABPB2	ENSG00000143458.12	transcript	ENST00000368918.8	protein_coding		582		chr1	TogoVar
GABPB2_chr1_151065761_151130542	151104775	C C	CTTTCTTT others(11): Show CTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0016 a0004c0004t0016	a0004c0004t0016g0088 a0004c0004t0016g0088	1	264	0.0038	18	c.736 others(35): Show c.736+1101_736+1102insTTCTTTCTTTCTTTCTTT	GABPB2	ENSG00000143458.12	transcript	ENST00000368918.8	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
GABPB2_chr1_151065761_151130542	151109343	A A	AATATATA others(11): Show AATATATATATACACAAAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0087 a0001c0001t0087	a0001c0001t0087g0258 a0001c0001t0087g0258	1	264	0.0038	18	c.922 others(35): Show c.922+2132_922+2133insCACAAATATATATATATA	GABPB2	ENSG00000143458.12	transcript	ENST00000368918.8	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
GABRA1_chr5_161843120_161904971	161850081	T T	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0130 a0001c0002t0002g0130	1	394	0.0025	18	c.-15 others(33): Show c.-15-706_-15-689dupTGTGTGTGTGTGTGTGTG	GABRA1	ENSG00000022355.18	transcript	ENST00000393943.10	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
GABRA2_chr4_46238548_46395128	46249034	A A	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01109.hp1 HG01256.hp1 HG01258.hp1 others(18): Show HG01109.hp1 HG01256.hp1 HG01258.hp1 HG01258.hp2 HG01952.hp1 HG01978.hp1 HG02055.hp1 HG02148.hp1 HG02615.hp1 HG02809.hp1 HG03491.hp2 HG03688.hp1 HG03704.hp1 HG03831.hp1 NA18947.hp2 NA18952.hp1 NA18968.hp1 NA19059.hp1 NA19070.hp2 NA19090.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0011 a0001c0001t0021 others(13): Show a0001c0001t0002 a0001c0001t0011 a0001c0001t0021 a0001c0001t0045 a0001c0001t0049 a0001c0001t0076 a0001c0001t0083 a0001c0001t0084 a0001c0001t0107 a0001c0001t0111 a0001c0001t0122 a0001c0001t0127 a0001c0001t0165 a0001c0001t0170 a0001c0001t0176 a0001c0002t0011	a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0094 others(18): Show a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0094 a0001c0001t0002g0097 a0001c0001t0011g0184 a0001c0001t0021g0071 a0001c0001t0021g0077 a0001c0001t0045g0006 a0001c0001t0049g0011 a0001c0001t0076g0050 a0001c0001t0083g0059 a0001c0001t0084g0061 a0001c0001t0107g0113 a0001c0001t0111g0124 a0001c0001t0122g0138 a0001c0001t0127g0145 a0001c0001t0165g0199 a0001c0001t0170g0218 a0001c0001t0176g0220 a0001c0002t0011g0185 a0001c0002t0011g0186	21	258	0.0814	18	c.12 others(29): Show c.1256_*1273dupCACACACACACACACACA	GABRA2	ENSG00000151834.16	transcript	ENST00000381620.9	protein_coding	10/10	1273		chr4	TogoVar
GABRA2_chr4_46238548_46395128	46264986	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00621.hp1 others(31): Show HG00140.hp2 HG00323.hp2 HG00621.hp1 HG00673.hp1 HG00738.hp1 HG01071.hp2 HG01255.hp1 HG01256.hp1 HG01258.hp1 HG01258.hp2 HG01361.hp1 HG01496.hp1 HG01496.hp2 HG01928.hp2 HG01943.hp2 HG01952.hp1 HG01978.hp1 HG02056.hp1 HG02148.hp1 HG02165.hp2 HG02615.hp1 HG02970.hp2 HG02976.hp2 HG03654.hp1 HG03927.hp1 HG04228.hp1 NA18906.hp1 NA18944.hp1 NA18982.hp2 NA19010.hp1 NA19043.hp2 NA19090.hp1 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 others(26): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0033 a0001c0001t0044 a0001c0001t0047 a0001c0001t0066 a0001c0001t0074 a0001c0001t0088 a0001c0001t0103 a0001c0001t0111 a0001c0001t0112 a0001c0001t0122 a0001c0001t0146 a0001c0001t0160 a0001c0001t0165 a0001c0001t0170 a0001c0001t0177 a0001c0001t0178 a0001c0001t0184 a0001c0001t0189 a0001c0001t0192 a0001c0001t0194 a0001c0002t0011 a0001c0002t0032 a0001c0002t0053	a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0007g0087 others(31): Show a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0007g0087 a0001c0001t0007g0095 a0001c0001t0008g0092 a0001c0001t0008g0093 a0001c0001t0009g0102 a0001c0001t0009g0104 a0001c0001t0009g0105 a0001c0001t0010g0109 a0001c0001t0011g0184 a0001c0001t0033g0176 a0001c0001t0044g0004 a0001c0001t0047g0008 a0001c0001t0066g0040 a0001c0001t0074g0047 a0001c0001t0088g0069 a0001c0001t0103g0106 a0001c0001t0111g0124 a0001c0001t0112g0120 a0001c0001t0122g0138 a0001c0001t0146g0166 a0001c0001t0160g0188 a0001c0001t0165g0199 a0001c0001t0170g0218 a0001c0001t0177g0221 a0001c0001t0178g0227 a0001c0001t0184g0240 a0001c0001t0189g0246 a0001c0001t0192g0249 a0001c0001t0194g0251 a0001c0002t0011g0185 a0001c0002t0032g0173 a0001c0002t0053g0021	34	258	0.1318	18	c.857 others(35): Show c.857-2859_857-2858insATATATATATATATATAT	GABRA2	ENSG00000151834.16	transcript	ENST00000381620.9	protein_coding	8/9			chr4	TogoVar
GABRA2_chr4_46238548_46395128	46265428	A A	ATATATAT others(11): Show ATATATATAATATATTGTG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01884.hp1 HG01891.hp1 others(33): Show HG01243.hp2 HG01884.hp1 HG01891.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02615.hp2 HG02622.hp1 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02809.hp2 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02976.hp1 HG03195.hp2 HG03209.hp2 HG03453.hp2 HG03486.hp2 HG03579.hp2 HG06807.hp2 NA18522.hp2 NA18906.hp2 NA19030.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0020 a0001c0001t0027 others(27): Show a0001c0001t0001 a0001c0001t0020 a0001c0001t0027 a0001c0001t0028 a0001c0001t0030 a0001c0001t0051 a0001c0001t0055 a0001c0001t0056 a0001c0001t0061 a0001c0001t0077 a0001c0001t0085 a0001c0001t0092 a0001c0001t0095 a0001c0001t0099 a0001c0001t0100 a0001c0001t0104 a0001c0001t0114 a0001c0001t0128 a0001c0001t0130 a0001c0001t0132 a0001c0001t0134 a0001c0001t0135 a0001c0001t0137 a0001c0001t0138 a0001c0001t0139 a0001c0001t0140 a0001c0001t0143 a0001c0001t0144 a0001c0001t0148 a0001c0001t0153	a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0078 others(32): Show a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0020g0064 a0001c0001t0020g0065 a0001c0001t0027g0129 a0001c0001t0027g0133 a0001c0001t0028g0139 a0001c0001t0030g0001 a0001c0001t0051g0016 a0001c0001t0055g0027 a0001c0001t0056g0030 a0001c0001t0061g0034 a0001c0001t0077g0049 a0001c0001t0085g0062 a0001c0001t0092g0074 a0001c0001t0095g0081 a0001c0001t0099g0091 a0001c0001t0100g0084 a0001c0001t0104g0100 a0001c0001t0114g0118 a0001c0001t0128g0140 a0001c0001t0130g0148 a0001c0001t0132g0149 a0001c0001t0134g0150 a0001c0001t0135g0151 a0001c0001t0137g0154 a0001c0001t0138g0155 a0001c0001t0139g0156 a0001c0001t0140g0157 a0001c0001t0143g0160 a0001c0001t0144g0161 a0001c0001t0148g0165 a0001c0001t0153g0169	36	258	0.1395	18	c.857 others(35): Show c.857-3301_857-3300insCACAATATATTATATATA	GABRA2	ENSG00000151834.16	transcript	ENST00000381620.9	protein_coding	8/9			chr4	TogoVar
GABRA2_chr4_46238548_46395128	46297476	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01952.hp1 HG02148.hp1 others(10): Show HG01516.hp2 HG01952.hp1 HG02148.hp1 HG02280.hp1 HG02486.hp1 HG02622.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp2 HG03209.hp2 HG06807.hp2 NA20129.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0019 others(10): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0019 a0001c0001t0027 a0001c0001t0077 a0001c0001t0085 a0001c0001t0099 a0001c0001t0128 a0001c0001t0140 a0001c0001t0144 a0001c0001t0153 a0001c0001t0158 a0001c0001t0165	a0001c0001t0002g0090 a0001c0001t0008g0093 a0001c0001t0019g0063 others(10): Show a0001c0001t0002g0090 a0001c0001t0008g0093 a0001c0001t0019g0063 a0001c0001t0027g0129 a0001c0001t0077g0049 a0001c0001t0085g0062 a0001c0001t0099g0091 a0001c0001t0128g0140 a0001c0001t0140g0157 a0001c0001t0144g0161 a0001c0001t0153g0169 a0001c0001t0158g0182 a0001c0001t0165g0199	13	258	0.0504	18	c.856 others(35): Show c.856+5966_856+5983dupATATATATATATATATAT	GABRA2	ENSG00000151834.16	transcript	ENST00000381620.9	protein_coding	8/9			chr4	TogoVar
GABRA2_chr4_46238548_46395128	46297476	C C	CATGTATA others(11): Show CATGTATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	258	0.0039	18	c.856 others(35): Show c.856+5983_856+5984insATATATATATATATACAT	GABRA2	ENSG00000151834.16	transcript	ENST00000381620.9	protein_coding	8/9			chr4	TogoVar
GABRA2_chr4_46238548_46395128	46330589	T T	TAGAGAGA others(11): Show TAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0036 a0001c0002t0036	a0001c0002t0036g0196 a0001c0002t0036g0196	1	258	0.0039	18	c.255 others(35): Show c.255+2025_255+2026insCTCTCTCTCTCTCTCTCT	GABRA2	ENSG00000151834.16	transcript	ENST00000381620.9	protein_coding	4/9			chr4	TogoVar
GABRA2_chr4_46238548_46395128	46330591	T T	TAGAGAGA others(11): Show TAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0201 a0001c0002t0012g0201	1	258	0.0039	18	c.255 others(35): Show c.255+2006_255+2023dupCTCTCTCTCTCTCTCTCT	GABRA2	ENSG00000151834.16	transcript	ENST00000381620.9	protein_coding	4/9			chr4	TogoVar
GABRA2_chr4_46238548_46395128	46330591	T T	TATAGAGA others(11): Show TATAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0040 a0001c0002t0040	a0001c0002t0040g0234 a0001c0002t0040g0234	1	258	0.0039	18	c.255 others(35): Show c.255+2023_255+2024insCTCTCTCTCTCTCTCTAT	GABRA2	ENSG00000151834.16	transcript	ENST00000381620.9	protein_coding	4/9			chr4	TogoVar
GABRA2_chr4_46238548_46395128	46330591	T T	TATATAGA others(11): Show TATATAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0162 a0001c0002t0162	a0001c0002t0162g0191 a0001c0002t0162g0191	1	258	0.0039	18	c.255 others(35): Show c.255+2023_255+2024insCTCTCTCTCTCTCTATAT	GABRA2	ENSG00000151834.16	transcript	ENST00000381620.9	protein_coding	4/9			chr4	TogoVar
GABRA2_chr4_46238548_46395128	46330591	T T	TATATATA others(11): Show TATATATATAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01433.hp1 NA18992.hp1 NA19012.hp1 HG01433.hp1 NA18992.hp1 NA19012.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0038 a0001c0002t0149 a0001c0002t0003 a0001c0002t0038 a0001c0002t0149	a0001c0002t0003g0216 a0001c0002t0038g0206 a0001c0002t0149g0168 a0001c0002t0003g0216 a0001c0002t0038g0206 a0001c0002t0149g0168	3	258	0.0116	18	c.255 others(35): Show c.255+2023_255+2024insCTCTCTCTCTATATATAT	GABRA2	ENSG00000151834.16	transcript	ENST00000381620.9	protein_coding	4/9			chr4	TogoVar
GABRA2_chr4_46238548_46395128	46330591	T T	TATATATA others(11): Show TATATATATATAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0069 a0001c0002t0069	a0001c0002t0069g0042 a0001c0002t0069g0042	1	258	0.0039	18	c.255 others(35): Show c.255+2023_255+2024insCTCTCTCTATATATATAT	GABRA2	ENSG00000151834.16	transcript	ENST00000381620.9	protein_coding	4/9			chr4	TogoVar
GABRA2_chr4_46238548_46395128	46389802	G G	GGAGAGAG others(11): Show GGAGAGAGAGAGAGAGAGA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00639.hp1 HG01884.hp1 HG02148.hp2 others(2): Show HG00639.hp1 HG01884.hp1 HG02148.hp2 HG02970.hp1 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0138 a0001c0002t0064 a0001c0002t0065 others(2): Show a0001c0001t0138 a0001c0002t0064 a0001c0002t0065 a0001c0002t0195 a0001c0002t0196	a0001c0001t0138g0155 a0001c0002t0064g0037 a0001c0002t0065g0038 others(2): Show a0001c0001t0138g0155 a0001c0002t0064g0037 a0001c0002t0065g0038 a0001c0002t0195g0253 a0001c0002t0196g0252	5	258	0.0194	18	c.-96 others(25): Show c.-96_-79dupTCTCTCTCTCTCTCTCTC	GABRA2	ENSG00000151834.16	transcript	ENST00000381620.9	protein_coding	1/10	1097		chr4	TogoVar
GABRA3_chrX_152161234_152456315	152451326	G G	GCTCTCTC others(11): Show GCTCTCTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03017.hp1 NA18957.hp2 NA19086.hp1 HG03017.hp1 NA18957.hp2 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0012 a0001c0001t0002 a0001c0001t0009 a0001c0001t0012	a0001c0001t0002g0035 a0001c0001t0009g0043 a0001c0001t0012g0049 a0001c0001t0002g0035 a0001c0001t0009g0043 a0001c0001t0012g0049	3	204	0.0147	18	c.-20 others(27): Show c.-208_-207insAGAGAGAGAGAGAGAGAG	GABRA3	ENSG00000011677.13	transcript	ENST00000370314.9	protein_coding		12		chrX	TogoVar
GABRA5_chr15_26862062_26954208	26894057	G G	GTGCTCCC others(11): Show GTGCTCCCCAGACGCCCTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp2 others(92): Show HG00099.hp1 HG00140.hp1 HG00280.hp2 HG00423.hp2 HG00621.hp2 HG00733.hp1 HG00735.hp2 HG01074.hp2 HG01192.hp1 HG01243.hp2 HG01257.hp2 HG01261.hp1 HG01346.hp2 HG01361.hp1 HG01884.hp2 HG01891.hp2 HG01952.hp1 HG02040.hp2 HG02056.hp1 HG02165.hp2 HG02257.hp1 HG02486.hp1 HG02559.hp1 HG02602.hp2 HG02630.hp1 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03239.hp1 HG03471.hp1 HG03490.hp2 HG03491.hp2 HG03688.hp1 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04199.hp1 HG04199.hp2 NA18522.hp1 NA18747.hp2 NA18906.hp1 NA18943.hp1 NA18944.hp1 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18954.hp2 NA18955.hp1 NA18962.hp1 NA18965.hp1 NA18966.hp1 NA18969.hp1 NA18971.hp2 NA18982.hp2 NA18983.hp2 NA18994.hp1 NA18997.hp1 NA19003.hp2 NA19007.hp1 NA19009.hp1 NA19011.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp2 NA19058.hp1 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19080.hp2 NA19083.hp1 NA19088.hp2 NA19091.hp2 NA20300.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0010 a0001c0011	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0002t0001 a0001c0003t0001 a0001c0003t0007 a0001c0004t0001 a0001c0006t0001 a0001c0007t0001 a0001c0010t0001 a0001c0011t0001	a0001c0001t0001g0007 a0001c0001t0001g0022 a0001c0001t0001g0026 others(91): Show a0001c0001t0001g0007 a0001c0001t0001g0022 a0001c0001t0001g0026 a0001c0001t0001g0033 a0001c0001t0001g0048 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0080 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0106 a0001c0001t0001g0135 a0001c0001t0001g0152 a0001c0001t0001g0157 a0001c0001t0001g0161 a0001c0001t0001g0176 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0191 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0241 a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0264 a0001c0001t0001g0269 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0293 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0311 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0322 a0001c0001t0001g0324 a0001c0001t0001g0328 a0001c0001t0001g0333 a0001c0001t0001g0351 a0001c0001t0001g0360 a0001c0001t0001g0365 a0001c0001t0003g0168 a0001c0001t0006g0058 a0001c0002t0001g0023 a0001c0002t0001g0101 a0001c0002t0001g0108 a0001c0002t0001g0118 a0001c0002t0001g0121 a0001c0002t0001g0137 a0001c0002t0001g0141 a0001c0002t0001g0147 a0001c0002t0001g0175 a0001c0002t0001g0189 a0001c0002t0001g0209 a0001c0002t0001g0245 a0001c0002t0001g0317 a0001c0002t0001g0318 a0001c0002t0001g0321 a0001c0002t0001g0325 a0001c0002t0001g0326 a0001c0002t0001g0329 a0001c0002t0001g0357 a0001c0002t0001g0361 a0001c0003t0001g0024 a0001c0003t0001g0025 a0001c0003t0001g0056 a0001c0003t0001g0057 a0001c0003t0001g0107 a0001c0003t0001g0111 a0001c0003t0001g0140 a0001c0003t0001g0154 a0001c0003t0001g0192 a0001c0003t0001g0211 a0001c0003t0001g0242 a0001c0003t0001g0334 a0001c0003t0007g0155 a0001c0004t0001g0012 a0001c0004t0001g0202 a0001c0006t0001g0238 a0001c0007t0001g0327 a0001c0010t0001g0119 a0001c0011t0001g0359	95	376	0.2527	18	c.497 others(37): Show c.497+10504_497+10521dupTCCCCAGACGCCCTTTGC	GABRA5	ENSG00000186297.12	transcript	ENST00000335625.10	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
GABRA5_chr15_26862062_26954208	26911388	C C	CACACACA others(11): Show CACACACAAACACACACAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp1 HG00597.hp2 others(10): Show HG00423.hp1 HG00438.hp1 HG00597.hp2 HG02523.hp1 HG02572.hp2 HG03471.hp2 HG03704.hp1 NA18522.hp2 NA18612.hp2 NA18953.hp2 NA18955.hp2 NA18970.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 a0001c0004t0001	a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0050 others(10): Show a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0050 a0001c0001t0001g0065 a0001c0001t0001g0120 a0001c0001t0001g0223 a0001c0001t0004g0092 a0001c0002t0001g0027 a0001c0002t0001g0149 a0001c0002t0001g0224 a0001c0002t0001g0249 a0001c0002t0001g0273 a0001c0004t0001g0043	13	376	0.0346	18	c.498 others(35): Show c.498-3408_498-3407insAACACACACAAACACACA	GABRA5	ENSG00000186297.12	transcript	ENST00000335625.10	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
GABRA5_chr15_26862062_26954208	26911388	C C	CACACACA others(11): Show CACACACACACACACACAA	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA19070.hp2 NA18979.hp2 NA19070.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0190 a0001c0002t0001g0208 a0001c0002t0001g0190 a0001c0002t0001g0208	2	376	0.0053	18	c.498 others(35): Show c.498-3406_498-3405insCACACACAAACACACACA	GABRA5	ENSG00000186297.12	transcript	ENST00000335625.10	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
GABRB1_chr4_47026567_47431447	47155916	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp1 HG01261.hp2 others(4): Show HG00280.hp1 HG00438.hp1 HG01261.hp2 HG02738.hp1 HG03209.hp1 HG04204.hp1 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0002t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0004 a0001c0004t0005 a0001c0005t0003	a0001c0001t0001g0030 a0001c0001t0001g0075 a0001c0001t0001g0156 others(4): Show a0001c0001t0001g0030 a0001c0001t0001g0075 a0001c0001t0001g0156 a0001c0001t0002g0032 a0001c0002t0004g0083 a0001c0004t0005g0081 a0001c0005t0003g0054	7	158	0.0443	18	c.241 others(35): Show c.241-5320_241-5303dupATATATATATATATATAT	GABRB1	ENSG00000163288.14	transcript	ENST00000295454.8	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
GABRB1_chr4_47026567_47431447	47269935	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02735.hp1 HG02165.hp2 HG02735.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0004 a0001c0002t0001 a0001c0002t0004	a0001c0002t0001g0101 a0001c0002t0004g0055 a0001c0002t0001g0101 a0001c0002t0004g0055	2	158	0.0127	18	c.462 others(37): Show c.462-50168_462-50151dupCACACACACACACACACA	GABRB1	ENSG00000163288.14	transcript	ENST00000295454.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
GABRB1_chr4_47026567_47431447	47350218	T T	TATATATA others(11): Show TATATATATATATAGAGAG	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	158	0.0063	18	c.544 others(37): Show c.544+30010_544+30011insTATATATATATAGAGAGA	GABRB1	ENSG00000163288.14	transcript	ENST00000295454.8	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
GABRB1_chr4_47026567_47431447	47350218	T T	TATATATA others(11): Show TATATATATATATATAGAG	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0101 a0001c0002t0001g0101	1	158	0.0063	18	c.544 others(37): Show c.544+30010_544+30011insTATATATATATATAGAGA	GABRB1	ENSG00000163288.14	transcript	ENST00000295454.8	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
GABRB1_chr4_47026567_47431447	47400526	G G	GTCTCTCT others(11): Show GTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0112 a0001c0002t0004g0112	1	158	0.0063	18	c.545 others(35): Show c.545-2781_545-2764dupTCTCTCTCTCTCTCTCTC	GABRB1	ENSG00000163288.14	transcript	ENST00000295454.8	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
GABRB1_chr4_47026567_47431447	47400546	C C	CTCTCTCT others(11): Show CTCTCTCTCTCTCTCTCTT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0146 a0001c0003t0007g0146	1	158	0.0063	18	c.545 others(35): Show c.545-2764_545-2763insTCTCTCTCTTTCTCTCTC	GABRB1	ENSG00000163288.14	transcript	ENST00000295454.8	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
GABRB2_chr5_161283436_161551725	161341937	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG02895.hp1 HG02897.hp1 others(8): Show HG01928.hp1 HG02895.hp1 HG02897.hp1 HG02922.hp2 HG03098.hp2 NA18942.hp2 NA18954.hp1 NA18963.hp2 NA18970.hp2 NA18994.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0013 a0001c0001t0016 a0001c0001t0022 a0001c0001t0055	a0001c0001t0002g0135 a0001c0001t0002g0224 a0001c0001t0002g0228 others(7): Show a0001c0001t0002g0135 a0001c0001t0002g0224 a0001c0001t0002g0228 a0001c0001t0003g0056 a0001c0001t0003g0081 a0001c0001t0007g0101 a0001c0001t0013g0001 a0001c0001t0016g0060 a0001c0001t0022g0079 a0001c0001t0055g0067	11	266	0.0414	18	c.542 others(35): Show c.542-5186_542-5169dupTATATATATATATATATA	GABRB2	ENSG00000145864.14	transcript	ENST00000393959.6	protein_coding	5/9			chr5	TogoVar
GABRB2_chr5_161283436_161551725	161359440	G G	GACACACA others(11): Show GACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01943.hp2 HG03471.hp2 HG01884.hp1 HG01943.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0002t0012 a0001c0001t0006 a0001c0002t0012	a0001c0001t0006g0243 a0001c0001t0006g0244 a0001c0002t0012g0248 a0001c0001t0006g0243 a0001c0001t0006g0244 a0001c0002t0012g0248	3	266	0.0113	18	c.542 others(37): Show c.542-22689_542-22672dupGTGTGTGTGTGTGTGTGT	GABRB2	ENSG00000145864.14	transcript	ENST00000393959.6	protein_coding	5/9			chr5	TogoVar
GABRB2_chr5_161283436_161551725	161416696	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0253 a0001c0001t0008g0253	1	266	0.0038	18	c.459 others(35): Show c.459-5657_459-5640dupTTTTTTTTTTTTTTTTTT	GABRB2	ENSG00000145864.14	transcript	ENST00000393959.6	protein_coding	4/9			chr5	TogoVar
GABRB2_chr5_161283436_161551725	161429357	A A	AAAAAAAA others(11): Show AAAAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01891.hp1 HG01167.hp2 HG01891.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0020 a0001c0003t0021 a0001c0003t0020 a0001c0003t0021	a0001c0003t0020g0151 a0001c0003t0021g0150 a0001c0003t0020g0151 a0001c0003t0021g0150	2	266	0.0075	18	c.459 others(37): Show c.459-18301_459-18300insATTTTTTTTTTTTTTTTT	GABRB2	ENSG00000145864.14	transcript	ENST00000393959.6	protein_coding	4/9			chr5	TogoVar
GABRB2_chr5_161283436_161551725	161469672	C C	CACACATA others(11): Show CACACATACACATACACAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02258.hp1 HG02572.hp2 others(8): Show HG02055.hp1 HG02258.hp1 HG02572.hp2 HG02809.hp1 HG02895.hp1 HG02897.hp1 HG03130.hp2 HG04228.hp2 NA18906.hp2 NA18984.hp1 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0013 others(4): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0013 a0001c0001t0020 a0001c0001t0023 a0001c0001t0031 a0001c0001t0032	a0001c0001t0001g0031 a0001c0001t0001g0054 a0001c0001t0009g0014 others(7): Show a0001c0001t0001g0031 a0001c0001t0001g0054 a0001c0001t0009g0014 a0001c0001t0013g0001 a0001c0001t0013g0005 a0001c0001t0013g0012 a0001c0001t0020g0215 a0001c0001t0023g0128 a0001c0001t0031g0011 a0001c0001t0032g0013	11	266	0.0414	18	c.238 others(35): Show c.238-9846_238-9829dupATGTGTATGTGTATGTGT	GABRB2	ENSG00000145864.14	transcript	ENST00000393959.6	protein_coding	3/9			chr5	TogoVar
GABRB3_chr15_26538552_26778066	26554021	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02602.hp1 HG02698.hp2 others(2): Show HG00639.hp1 HG02602.hp1 HG02698.hp2 HG03017.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0028 a0001c0001t0004 a0001c0001t0028	a0001c0001t0004g0008 a0001c0001t0004g0053 a0001c0001t0004g0064 others(2): Show a0001c0001t0004g0008 a0001c0001t0004g0053 a0001c0001t0004g0064 a0001c0001t0004g0114 a0001c0001t0028g0017	5	204	0.0245	18	c.108 others(37): Show c.1081-5888_1081-5887insTATATATATATATATATA	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	8/8			chr15	TogoVar
GABRB3_chr15_26538552_26778066	26554021	T T	TTTTATTT others(11): Show TTTTATTTATATATATATA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0148 a0001c0001t0021g0148	1	204	0.0049	18	c.108 others(37): Show c.1081-5888_1081-5887insTATATATATATAAATAAA	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	8/8			chr15	TogoVar
GABRB3_chr15_26538552_26778066	26554176	G G	GTATATAT others(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp2 HG00741.hp2 others(18): Show HG00558.hp1 HG00558.hp2 HG00741.hp2 HG01099.hp1 HG01243.hp2 HG01975.hp2 HG02155.hp1 HG02738.hp2 HG03490.hp2 HG03492.hp1 HG04115.hp1 HG04228.hp1 NA18968.hp1 NA18971.hp1 NA18978.hp1 NA18987.hp1 NA18989.hp2 NA19056.hp2 NA19072.hp1 NA19088.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0012 a0001c0001t0013 others(2): Show a0001c0001t0001 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0006t0025	a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0001g0100 others(18): Show a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0001g0100 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0119 a0001c0001t0001g0130 a0001c0001t0001g0155 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0166 a0001c0001t0001g0175 a0001c0001t0001g0178 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0012g0093 a0001c0001t0013g0131 a0001c0001t0013g0132 a0001c0001t0015g0200 a0001c0006t0025g0108	21	204	0.1029	18	c.108 others(37): Show c.1081-6043_1081-6042insTATATATATATATATATA	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	8/8			chr15	TogoVar
GABRB3_chr15_26538552_26778066	26586397	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01257.hp2 HG01258.hp1 others(26): Show HG00639.hp1 HG01257.hp2 HG01258.hp1 HG01433.hp2 HG01496.hp2 HG02055.hp1 HG02055.hp2 HG02145.hp1 HG02280.hp2 HG02293.hp2 HG02486.hp2 HG02572.hp1 HG02698.hp2 HG02809.hp1 HG02976.hp2 HG03710.hp1 HG04115.hp2 HG04204.hp2 NA18612.hp1 NA18964.hp1 NA18968.hp1 NA18969.hp1 NA18971.hp1 NA18987.hp1 NA18987.hp2 NA18990.hp2 NA19072.hp1 NA19090.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0014 a0001c0002t0007 a0001c0004t0002	a0001c0001t0001g0035 a0001c0001t0001g0100 a0001c0001t0001g0130 others(26): Show a0001c0001t0001g0035 a0001c0001t0001g0100 a0001c0001t0001g0130 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0002g0021 a0001c0001t0002g0153 a0001c0001t0003g0098 a0001c0001t0003g0150 a0001c0001t0004g0008 a0001c0001t0004g0033 a0001c0001t0004g0041 a0001c0001t0004g0060 a0001c0001t0004g0114 a0001c0001t0004g0117 a0001c0001t0004g0154 a0001c0001t0004g0160 a0001c0001t0004g0165 a0001c0001t0006g0076 a0001c0001t0006g0128 a0001c0001t0006g0135 a0001c0001t0009g0172 a0001c0001t0014g0198 a0001c0001t0014g0199 a0001c0002t0007g0004 a0001c0002t0007g0038 a0001c0004t0002g0169	29	204	0.1422	18	c.462 others(35): Show c.462-3001_462-2984dupGTGTGTGTGTGTGTGTGT	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	4/8			chr15	TogoVar
GABRB3_chr15_26538552_26778066	26649658	C C	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03688.hp1 HG02055.hp2 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0180 a0001c0001t0006g0135 a0001c0001t0001g0180 a0001c0001t0006g0135	2	204	0.0098	18	c.241 others(37): Show c.241-28142_241-28125dupCACACACACACACACACA	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	3/8			chr15	TogoVar
GABRB3_chr15_26538552_26778066	26683356	G G	GCACCTAG others(11): Show GCACCTAGTGGATGGAGGC	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG02486.hp2 HG02615.hp1 others(7): Show HG01071.hp1 HG02486.hp2 HG02615.hp1 HG02970.hp2 HG03041.hp1 HG03098.hp2 HG03139.hp2 NA18522.hp2 NA19240.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0010 a0001c0001t0027 a0001c0001t0030	a0001c0001t0002g0021 a0001c0001t0002g0133 a0001c0001t0003g0019 others(7): Show a0001c0001t0002g0021 a0001c0001t0002g0133 a0001c0001t0003g0019 a0001c0001t0003g0043 a0001c0001t0005g0045 a0001c0001t0010g0036 a0001c0001t0010g0046 a0001c0001t0010g0073 a0001c0001t0027g0027 a0001c0001t0030g0138	10	204	0.0490	18	c.241 others(37): Show c.241-61823_241-61822insGCCTCCATCCACTAGGTG	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	3/8			chr15	TogoVar
GABRB3_chr15_26538552_26778066	26760809	G G	GCACACAC others(11): Show GCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00639.hp1 others(22): Show HG00280.hp1 HG00280.hp2 HG00639.hp1 HG01099.hp2 HG01109.hp1 HG01258.hp2 HG01515.hp1 HG01515.hp2 HG01993.hp1 HG02155.hp1 HG02486.hp1 HG02486.hp2 HG02965.hp1 HG03453.hp1 HG03490.hp1 HG03927.hp2 HG04228.hp2 NA18522.hp2 NA18964.hp2 NA18967.hp1 NA18971.hp1 NA18983.hp2 NA19030.hp2 NA19082.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0024 a0001c0001t0028 a0001c0002t0007 a0001c0003t0002	a0001c0001t0001g0085 a0001c0001t0001g0100 a0001c0001t0001g0119 others(22): Show a0001c0001t0001g0085 a0001c0001t0001g0100 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0137 a0001c0001t0001g0183 a0001c0001t0002g0021 a0001c0001t0002g0029 a0001c0001t0002g0088 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0118 a0001c0001t0003g0019 a0001c0001t0003g0103 a0001c0001t0003g0115 a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0004g0087 a0001c0001t0004g0114 a0001c0001t0005g0127 a0001c0001t0008g0190 a0001c0001t0024g0116 a0001c0001t0028g0017 a0001c0002t0007g0020 a0001c0003t0002g0018	25	204	0.1226	18	c.240 others(37): Show c.240+11575_240+11592dupTGTGTGTGTGTGTGTGTG	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	3/8			chr15	TogoVar
GABRD_chr1_2014345_2035758	2019284	G G	GGCGGGCT others(11): Show GGCGGGCTCGGGGCGGGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp1 HG01517.hp2 HG01516.hp1 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	2	364	0.0055	18	c.-14 others(27): Show c.-140_-139insGCGGGCTCGGGGCGGGCT	GABRD	ENSG00000187730.9	transcript	ENST00000378585.7	protein_coding		60		chr1	TogoVar
GABRG1_chr4_46030769_46129054	46117578	C C	CTCTGTCT others(11): Show CTCTGTCTCTCTCTTTCTG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0015 a0001c0002t0008g0015	1	308	0.0033	18	c.104 others(35): Show c.104+6231_104+6232insCAGAAAGAGAGAGACAGA	GABRG1	ENSG00000163285.8	transcript	ENST00000295452.5	protein_coding	1/8			chr4	TogoVar
GABRG1_chr4_46030769_46129054	46118132	G G	GTGTGTGT others(11): Show GTGTGTGTATATATATATA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	308	0.0033	18	c.104 others(35): Show c.104+5677_104+5678insTATATATATATACACACA	GABRG1	ENSG00000163285.8	transcript	ENST00000295452.5	protein_coding	1/8			chr4	TogoVar
GABRG1_chr4_46030769_46129054	46128321	G G	GATATATA others(11): Show GATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0019 a0001c0002t0004g0019	1	308	0.0033	18	c.-44 others(29): Show c.-4409_-4408insATATATATATATATATAT	GABRG1	ENSG00000163285.8	transcript	ENST00000295452.5	protein_coding		4268		chr4	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)