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	98492349	T T	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01256.hp1 HG01257.hp2 others(3): Show HG00621.hp2 HG01256.hp1 HG01257.hp2 HG02809.hp1 HG04184.hp2 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0018	a0001c0001t0019 a0001c0002t0001 a0001c0003t0008 others(2): Show a0001c0001t0019 a0001c0002t0001 a0001c0003t0008 a0002c0018t0002 a0002c0018t0006	a0001c0001t0019g0126 a0001c0002t0001g0127 a0001c0002t0001g0137 others(3): Show a0001c0001t0019g0126 a0001c0002t0001g0127 a0001c0002t0001g0137 a0001c0003t0008g0089 a0002c0018t0002g0023 a0002c0018t0006g0090	6	164	0.0366	20	c.732 others(37): Show c.732+4044_732+4063dupTTTTTTTTTTTTTTTTTTTT	GABBR2	ENSG00000136928.7	transcript	ENST00000259455.4	protein_coding	4/18			chr9	TogoVar
GABBR2_chr9_98283109_98713935	98576933	T T	TGGATGGA others(13): Show TGGATGGATGGATGGATGGAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00597.hp1 HG00621.hp2 others(38): Show HG00099.hp2 HG00597.hp1 HG00621.hp2 HG00735.hp2 HG01070.hp1 HG01106.hp1 HG01106.hp2 HG01256.hp1 HG01257.hp2 HG01261.hp1 HG01346.hp1 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01516.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG02109.hp1 HG02135.hp1 HG02258.hp1 HG02258.hp2 HG02683.hp2 HG02896.hp2 HG02976.hp2 HG03492.hp2 HG03579.hp2 HG03710.hp2 HG03834.hp2 HG04184.hp1 HG04199.hp1 NA18952.hp2 NA18963.hp2 NA18969.hp2 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18994.hp2 NA18995.hp2 NA19002.hp1 NA19010.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(6): Show a0001c0001 a0001c0002 a0001c0005 a0002c0004 a0002c0006 a0002c0009 a0002c0010 a0002c0016 a0002c0023	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(27): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0017 a0001c0001t0019 a0001c0001t0022 a0001c0001t0032 a0001c0001t0039 a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0002t0008 a0001c0002t0009 a0001c0002t0012 a0001c0002t0018 a0001c0002t0034 a0001c0002t0038 a0001c0002t0040 a0001c0005t0003 a0002c0004t0002 a0002c0004t0036 a0002c0006t0004 a0002c0006t0007 a0002c0009t0007 a0002c0010t0004 a0002c0016t0027 a0002c0016t0044 a0002c0023t0004	a0001c0001t0001g0149 a0001c0001t0001g0158 a0001c0001t0003g0004 others(38): Show a0001c0001t0001g0149 a0001c0001t0001g0158 a0001c0001t0003g0004 a0001c0001t0005g0143 a0001c0001t0005g0160 a0001c0001t0008g0121 a0001c0001t0009g0110 a0001c0001t0017g0057 a0001c0001t0019g0126 a0001c0001t0022g0108 a0001c0001t0032g0025 a0001c0001t0039g0139 a0001c0002t0001g0127 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0001g0156 a0001c0002t0001g0162 a0001c0002t0001g0163 a0001c0002t0003g0026 a0001c0002t0005g0155 a0001c0002t0008g0133 a0001c0002t0009g0095 a0001c0002t0009g0102 a0001c0002t0009g0130 a0001c0002t0012g0097 a0001c0002t0018g0093 a0001c0002t0018g0159 a0001c0002t0034g0036 a0001c0002t0038g0111 a0001c0002t0040g0147 a0001c0005t0003g0054 a0002c0004t0002g0021 a0002c0004t0036g0046 a0002c0006t0004g0145 a0002c0006t0004g0148 a0002c0006t0007g0033 a0002c0009t0007g0035 a0002c0010t0004g0082 a0002c0016t0027g0048 a0002c0016t0044g0134 a0002c0023t0004g0129	41	164	0.2500	20	c.459 others(37): Show c.459+1001_459+1002insTTCCATCCATCCATCCATCC	GABBR2	ENSG00000136928.7	transcript	ENST00000259455.4	protein_coding	2/18			chr9	TogoVar
GABBR2_chr9_98283109_98713935	98640121	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03225.hp1 HG01884.hp1 HG03225.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0011 a0002c0004t0002 a0001c0001t0011 a0002c0004t0002	a0001c0001t0011g0055 a0002c0004t0002g0056 a0001c0001t0011g0055 a0002c0004t0002g0056	2	164	0.0122	20	c.322 others(39): Show c.322-62069_322-62050dupATATATATATATATATATAT	GABBR2	ENSG00000136928.7	transcript	ENST00000259455.4	protein_coding	1/18			chr9	TogoVar
GABBR2_chr9_98283109_98713935	98648080	G G	GGTGTGTG others(13): Show GGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0002 a0002	a0002c0017 a0002c0017	a0002c0017t0002 a0002c0017t0002	a0002c0017t0002g0038 a0002c0017t0002g0038	1	164	0.0061	20	c.321 others(39): Show c.321+60317_321+60336dupACACACACACACACACACAC	GABBR2	ENSG00000136928.7	transcript	ENST00000259455.4	protein_coding	1/18			chr9	TogoVar
GABBR2_chr9_98283109_98713935	98648116	T T	TATAGATA others(13): Show TATAGATAGATAGATAGATAG	intron_variant intron_variant	MODIFIER	HG02809.hp1 NA18969.hp1 HG02809.hp1 NA18969.hp1	a0002 a0002	a0002c0010 a0002c0018 a0002c0010 a0002c0018	a0002c0010t0007 a0002c0018t0002 a0002c0010t0007 a0002c0018t0002	a0002c0010t0007g0028 a0002c0018t0002g0023 a0002c0010t0007g0028 a0002c0018t0002g0023	2	164	0.0122	20	c.321 others(39): Show c.321+60281_321+60300dupCTATCTATCTATCTATCTAT	GABBR2	ENSG00000136928.7	transcript	ENST00000259455.4	protein_coding	1/18			chr9	TogoVar
GABBR2_chr9_98283109_98713935	98648116	T T	TGTGTATA others(13): Show TGTGTATAGATAGATAGATAG	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01169.hp2 HG01257.hp1 others(4): Show HG00621.hp2 HG01169.hp2 HG01257.hp1 HG01258.hp1 HG02622.hp1 NA18522.hp1 NA18955.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0011	a0001c0001t0015 a0001c0002t0001 a0001c0003t0005 others(3): Show a0001c0001t0015 a0001c0002t0001 a0001c0003t0005 a0001c0003t0015 a0001c0003t0023 a0002c0011t0004	a0001c0001t0015g0042 a0001c0002t0001g0137 a0001c0003t0005g0123 others(4): Show a0001c0001t0015g0042 a0001c0002t0001g0137 a0001c0003t0005g0123 a0001c0003t0015g0041 a0001c0003t0023g0132 a0002c0011t0004g0122 a0002c0011t0004g0125	7	164	0.0427	20	c.321 others(39): Show c.321+60300_321+60301insCTATCTATCTATCTATACAC	GABBR2	ENSG00000136928.7	transcript	ENST00000259455.4	protein_coding	1/18			chr9	TogoVar
GABBR2_chr9_98283109_98713935	98648116	T T	TGTGTGTG others(13): Show TGTGTGTGTATAGATAGATAG	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01346.hp2 HG02145.hp1 others(4): Show HG01106.hp1 HG01346.hp2 HG02145.hp1 HG02723.hp1 HG03225.hp2 HG03471.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0001c0007 others(2): Show a0001c0001 a0001c0005 a0001c0007 a0002c0004 a0002c0006	a0001c0001t0003 a0001c0001t0008 a0001c0001t0030 others(4): Show a0001c0001t0003 a0001c0001t0008 a0001c0001t0030 a0001c0005t0014 a0001c0007t0011 a0002c0004t0002 a0002c0006t0004	a0001c0001t0003g0045 a0001c0001t0008g0144 a0001c0001t0030g0003 others(4): Show a0001c0001t0003g0045 a0001c0001t0008g0144 a0001c0001t0030g0003 a0001c0005t0014g0034 a0001c0007t0011g0007 a0002c0004t0002g0043 a0002c0006t0004g0148	7	164	0.0427	20	c.321 others(39): Show c.321+60300_321+60301insCTATCTATCTATACACACAC	GABBR2	ENSG00000136928.7	transcript	ENST00000259455.4	protein_coding	1/18			chr9	TogoVar
GABBR2_chr9_98283109_98713935	98648116	T T	TGTGTGTG others(13): Show TGTGTGTGTGTGTATAGATAG	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0002 a0002	a0002c0020 a0002c0020	a0002c0020t0037 a0002c0020t0037	a0002c0020t0037g0001 a0002c0020t0037g0001	1	164	0.0061	20	c.321 others(39): Show c.321+60300_321+60301insCTATCTATACACACACACAC	GABBR2	ENSG00000136928.7	transcript	ENST00000259455.4	protein_coding	1/18			chr9	TogoVar
GABBR2_chr9_98283109_98713935	98648116	T T	TGTGTGTG others(13): Show TGTGTGTGTGTGTGTGTATAG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01081.hp2 HG01952.hp1 others(5): Show HG01070.hp2 HG01081.hp2 HG01952.hp1 HG02630.hp1 HG02896.hp1 HG02897.hp2 NA18906.hp2 NA18982.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0001c0015 a0002c0018	a0001c0001t0001 a0001c0001t0026 a0001c0001t0045 others(4): Show a0001c0001t0001 a0001c0001t0026 a0001c0001t0045 a0001c0002t0009 a0001c0005t0001 a0001c0015t0001 a0002c0018t0006	a0001c0001t0001g0138 a0001c0001t0026g0011 a0001c0001t0045g0091 others(5): Show a0001c0001t0001g0138 a0001c0001t0026g0011 a0001c0001t0045g0091 a0001c0002t0009g0095 a0001c0005t0001g0070 a0001c0015t0001g0076 a0001c0015t0001g0135 a0002c0018t0006g0090	8	164	0.0488	20	c.321 others(39): Show c.321+60300_321+60301insCTATACACACACACACACAC	GABBR2	ENSG00000136928.7	transcript	ENST00000259455.4	protein_coding	1/18			chr9	TogoVar
GABBR2_chr9_98283109_98713935	98688394	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02976.hp2 HG02809.hp1 HG02976.hp2	a0002 a0002	a0002c0004 a0002c0018 a0002c0004 a0002c0018	a0002c0004t0036 a0002c0018t0002 a0002c0004t0036 a0002c0018t0002	a0002c0004t0036g0046 a0002c0018t0002g0023 a0002c0004t0036g0046 a0002c0018t0002g0023	2	164	0.0122	20	c.321 others(39): Show c.321+20022_321+20023insATATATATATATATATATAT	GABBR2	ENSG00000136928.7	transcript	ENST00000259455.4	protein_coding	1/18			chr9	TogoVar
GABPB1_chr15_50270389_50360198	50282560	G G	GAAAAAAA others(13): Show GAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01243.hp1 others(4): Show HG01167.hp1 HG01169.hp2 HG01243.hp1 HG02300.hp1 HG03139.hp1 NA18522.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0003 a0001c0001t0004g0251 a0001c0001t0004g0261 others(3): Show a0001c0001t0004g0003 a0001c0001t0004g0251 a0001c0001t0004g0261 a0001c0001t0004g0272 a0001c0001t0004g0273 a0001c0001t0004g0275	7	366	0.0191	20	c.999 others(37): Show c.999+3507_999+3508insTTTTTTTTTTTTTTTTTTTT	GABPB1	ENSG00000104064.18	transcript	ENST00000380877.8	protein_coding	8/8			chr15	TogoVar
GABPB1_chr15_50270389_50360198	50337075	G G	GTGTGTAT others(13): Show GTGTGTATGTATATATATATA	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	366	0.0027	20	c.-1+ others(37): Show c.-1+17909_-1+17910insTATATATATATACATACACA	GABPB1	ENSG00000104064.18	transcript	ENST00000380877.8	protein_coding	1/8			chr15	TogoVar
GABRA1_chr5_161843120_161904971	161850081	T T	TTGTGTGT others(13): Show TTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG02738.hp1 HG03704.hp2 others(2): Show HG01943.hp1 HG02738.hp1 HG03704.hp2 HG03831.hp1 HG03834.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0014 a0001c0002t0002g0053 a0001c0002t0002g0131 others(1): Show a0001c0002t0002g0014 a0001c0002t0002g0053 a0001c0002t0002g0131 a0001c0002t0002g0132	5	394	0.0127	20	c.-15 others(35): Show c.-15-708_-15-689dupTGTGTGTGTGTGTGTGTGTG	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(13): Show ATGTGTGTGTGTGTGTGTGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00323.hp2 others(33): Show HG00099.hp1 HG00323.hp1 HG00323.hp2 HG00558.hp1 HG00642.hp1 HG00733.hp1 HG01071.hp2 HG01074.hp2 HG01255.hp1 HG01261.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp2 HG01943.hp2 HG02027.hp1 HG02273.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03239.hp2 HG03491.hp1 HG03540.hp1 HG03927.hp2 HG04228.hp1 NA18906.hp1 NA18945.hp2 NA18948.hp1 NA18963.hp2 NA19012.hp2 NA19084.hp2 NA19090.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 others(24): Show a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0018 a0001c0001t0031 a0001c0001t0034 a0001c0001t0035 a0001c0001t0048 a0001c0001t0054 a0001c0001t0066 a0001c0001t0075 a0001c0001t0082 a0001c0001t0087 a0001c0001t0091 a0001c0001t0093 a0001c0001t0110 a0001c0001t0129 a0001c0001t0152 a0001c0001t0157 a0001c0001t0164 a0001c0001t0175 a0001c0001t0184 a0001c0001t0189 a0001c0001t0192 a0001c0001t0199 a0001c0002t0034 a0001c0002t0195	a0001c0001t0007g0086 a0001c0001t0007g0087 a0001c0001t0007g0095 others(33): Show a0001c0001t0007g0086 a0001c0001t0007g0087 a0001c0001t0007g0095 a0001c0001t0009g0102 a0001c0001t0009g0104 a0001c0001t0009g0105 a0001c0001t0010g0108 a0001c0001t0010g0109 a0001c0001t0010g0115 a0001c0001t0018g0054 a0001c0001t0018g0055 a0001c0001t0031g0162 a0001c0001t0031g0163 a0001c0001t0034g0181 a0001c0001t0035g0187 a0001c0001t0035g0193 a0001c0001t0048g0009 a0001c0001t0054g0026 a0001c0001t0066g0040 a0001c0001t0075g0048 a0001c0001t0082g0058 a0001c0001t0087g0068 a0001c0001t0091g0075 a0001c0001t0093g0076 a0001c0001t0110g0122 a0001c0001t0129g0147 a0001c0001t0152g0172 a0001c0001t0157g0183 a0001c0001t0164g0194 a0001c0001t0175g0222 a0001c0001t0184g0240 a0001c0001t0189g0246 a0001c0001t0192g0249 a0001c0001t0199g0256 a0001c0002t0034g0180 a0001c0002t0195g0253	36	258	0.1395	20	c.12 others(31): Show c.1254_*1273dupCACACACACACACACACACA	GABRA2	ENSG00000151834.16	transcript	ENST00000381620.9	protein_coding	10/10	1273		chr4	TogoVar
GABRA2_chr4_46238548_46395128	46264986	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00544.hp1 others(28): Show HG00099.hp1 HG00323.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00621.hp2 HG01167.hp1 HG01169.hp2 HG01243.hp1 HG01261.hp1 HG01891.hp2 HG02015.hp2 HG02135.hp2 HG02258.hp2 HG02486.hp2 HG02647.hp2 HG03017.hp2 HG03491.hp2 HG04204.hp2 NA18522.hp1 NA18945.hp2 NA18947.hp2 NA18953.hp1 NA18963.hp1 NA18963.hp2 NA18990.hp2 NA18999.hp2 NA19002.hp1 NA19070.hp1 NA19070.hp2 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0001c0001t0010 a0001c0001t0019 others(27): Show a0001c0001t0002 a0001c0001t0010 a0001c0001t0019 a0001c0001t0022 a0001c0001t0024 a0001c0001t0026 a0001c0001t0031 a0001c0001t0032 a0001c0001t0035 a0001c0001t0048 a0001c0001t0075 a0001c0001t0076 a0001c0001t0079 a0001c0001t0080 a0001c0001t0082 a0001c0001t0096 a0001c0001t0098 a0001c0001t0102 a0001c0001t0118 a0001c0001t0119 a0001c0001t0121 a0001c0001t0126 a0001c0001t0127 a0001c0001t0133 a0001c0001t0155 a0001c0001t0159 a0001c0001t0169 a0001c0001t0174 a0001c0001t0179 a0002c0003t0050	a0001c0001t0002g0097 a0001c0001t0010g0108 a0001c0001t0019g0060 others(28): Show a0001c0001t0002g0097 a0001c0001t0010g0108 a0001c0001t0019g0060 a0001c0001t0019g0063 a0001c0001t0022g0088 a0001c0001t0024g0116 a0001c0001t0026g0132 a0001c0001t0031g0163 a0001c0001t0032g0174 a0001c0001t0035g0187 a0001c0001t0048g0009 a0001c0001t0075g0048 a0001c0001t0076g0050 a0001c0001t0079g0052 a0001c0001t0080g0056 a0001c0001t0082g0058 a0001c0001t0096g0080 a0001c0001t0098g0098 a0001c0001t0102g0103 a0001c0001t0118g0128 a0001c0001t0119g0131 a0001c0001t0121g0137 a0001c0001t0126g0144 a0001c0001t0127g0145 a0001c0001t0133g0152 a0001c0001t0155g0177 a0001c0001t0159g0190 a0001c0001t0169g0210 a0001c0001t0174g0226 a0001c0001t0179g0230 a0002c0003t0050g0018	31	258	0.1202	20	c.857 others(37): Show c.857-2859_857-2858insATATATATATATATATATAT	GABRA2	ENSG00000151834.16	transcript	ENST00000381620.9	protein_coding	8/9			chr4	TogoVar
GABRA2_chr4_46238548_46395128	46289879	T T	TTTTATTT others(13): Show TTTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG02717.hp1 NA20129.hp2 HG02717.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0104 a0001c0001t0153 a0001c0001t0104 a0001c0001t0153	a0001c0001t0104g0100 a0001c0001t0153g0169 a0001c0001t0104g0100 a0001c0001t0153g0169	2	258	0.0078	20	c.856 others(39): Show c.856+13561_856+13580dupTAAATAAATAAATAAATAAA	GABRA2	ENSG00000151834.16	transcript	ENST00000381620.9	protein_coding	8/9			chr4	TogoVar
GABRA2_chr4_46238548_46395128	46297476	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00621.hp1 HG00673.hp1 others(11): Show HG00558.hp2 HG00621.hp1 HG00673.hp1 HG01074.hp2 HG01255.hp1 HG02109.hp2 HG02630.hp2 HG03239.hp1 HG03486.hp2 NA18991.hp2 NA19030.hp1 NA19070.hp1 NA19070.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0031 others(11): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0031 a0001c0001t0054 a0001c0001t0061 a0001c0001t0076 a0001c0001t0097 a0001c0001t0106 a0001c0001t0108 a0001c0001t0112 a0001c0001t0119 a0001c0001t0134 a0001c0001t0174 a0001c0001t0177	a0001c0001t0001g0073 a0001c0001t0010g0109 a0001c0001t0031g0162 others(11): Show a0001c0001t0001g0073 a0001c0001t0010g0109 a0001c0001t0031g0162 a0001c0001t0054g0026 a0001c0001t0061g0034 a0001c0001t0076g0050 a0001c0001t0097g0096 a0001c0001t0106g0111 a0001c0001t0108g0114 a0001c0001t0112g0120 a0001c0001t0119g0131 a0001c0001t0134g0150 a0001c0001t0174g0226 a0001c0001t0177g0221	14	258	0.0543	20	c.856 others(37): Show c.856+5964_856+5983dupATATATATATATATATATAT	GABRA2	ENSG00000151834.16	transcript	ENST00000381620.9	protein_coding	8/9			chr4	TogoVar
GABRA2_chr4_46238548_46395128	46330591	T T	TATATATA others(13): Show TATATATAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0190 a0001c0002t0190	a0001c0002t0190g0248 a0001c0002t0190g0248	1	258	0.0039	20	c.255 others(37): Show c.255+2023_255+2024insCTCTCTCTCTCTCTATATAT	GABRA2	ENSG00000151834.16	transcript	ENST00000381620.9	protein_coding	4/9			chr4	TogoVar
GABRA2_chr4_46238548_46395128	46389802	G G	GGAGAGAG others(13): Show GGAGAGAGAGAGAGAGAGAGA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0139 a0001c0001t0139	a0001c0001t0139g0156 a0001c0001t0139g0156	1	258	0.0039	20	c.-98 others(27): Show c.-98_-79dupTCTCTCTCTCTCTCTCTCTC	GABRA2	ENSG00000151834.16	transcript	ENST00000381620.9	protein_coding	1/10	1097		chr4	TogoVar
GABRA2_chr4_46238548_46395128	46390202	T T	TCCCCCCC others(13): Show TCCCCCCCCCTCCCCCCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0201 a0001c0002t0012g0201	1	258	0.0039	20	c.-47 others(29): Show c.-479_-478insGAGGGGGGGGAGGGGGGGGG	GABRA2	ENSG00000151834.16	transcript	ENST00000381620.9	protein_coding		75		chr4	TogoVar
GABRA2_chr4_46238548_46395128	46390202	T T	TCCCCCCC others(13): Show TCCCCCCCCTCCCCCCCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0188 a0001c0002t0188	a0001c0002t0188g0245 a0001c0002t0188g0245	1	258	0.0039	20	c.-47 others(29): Show c.-479_-478insGAGGGGGGGGGAGGGGGGGG	GABRA2	ENSG00000151834.16	transcript	ENST00000381620.9	protein_coding		75		chr4	TogoVar
GABRA4_chr4_46913900_46998581	46921968	A A	ACCATCTT others(13): Show ACCATCTTTGTTTGAAACATC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0265 a0001c0001t0051g0265	1	370	0.0027	20	c.62 others(31): Show c.6256_*6257insGATGTTTCAAACAAAGATGG	GABRA4	ENSG00000109158.11	transcript	ENST00000264318.4	protein_coding	9/9	6256		chr4	TogoVar
GABRA4_chr4_46913900_46998581	46950716	A A	AAAATAAA others(13): Show AAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00544.hp1 HG00558.hp2 others(83): Show HG00140.hp2 HG00544.hp1 HG00558.hp2 HG01070.hp1 HG01070.hp2 HG01074.hp2 HG01099.hp2 HG01106.hp1 HG01123.hp2 HG01167.hp2 HG01175.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01891.hp2 HG01993.hp2 HG02015.hp2 HG02040.hp1 HG02056.hp1 HG02071.hp1 HG02080.hp1 HG02109.hp2 HG02132.hp1 HG02145.hp1 HG02145.hp2 HG02165.hp2 HG02280.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02818.hp2 HG02970.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03225.hp1 HG03471.hp2 HG03490.hp1 HG03669.hp1 HG03669.hp2 HG04115.hp1 HG04228.hp1 HG06807.hp1 NA18612.hp1 NA18939.hp2 NA18940.hp1 NA18944.hp2 NA18948.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp2 NA18966.hp1 NA18966.hp2 NA18971.hp2 NA18973.hp1 NA18974.hp1 NA18978.hp2 NA18979.hp2 NA18980.hp2 NA18983.hp2 NA18984.hp2 NA18985.hp2 NA18988.hp1 NA18994.hp1 NA18998.hp1 NA18999.hp2 NA19002.hp1 NA19004.hp2 NA19009.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19056.hp2 NA19058.hp1 NA19060.hp1 NA19064.hp2 NA19066.hp2 NA19067.hp1 NA19078.hp2 NA19079.hp2 NA19081.hp1 NA19090.hp2 NA19091.hp2 NA20300.hp1 NA21309.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0009 a0001c0010 others(2): Show a0001c0001 a0001c0009 a0001c0010 a0002c0002 a0005c0004	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(34): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0021 a0001c0001t0035 a0001c0001t0057 a0001c0001t0061 a0001c0001t0067 a0001c0001t0074 a0001c0001t0076 a0001c0001t0078 a0001c0001t0080 a0001c0001t0084 a0001c0001t0086 a0001c0001t0090 a0001c0001t0091 a0001c0009t0006 a0001c0010t0002 a0002c0002t0002 a0002c0002t0004 a0002c0002t0006 a0002c0002t0009 a0002c0002t0014 a0002c0002t0017 a0002c0002t0018 a0002c0002t0022 a0002c0002t0029 a0002c0002t0058 a0002c0002t0059 a0002c0002t0062 a0002c0002t0065 a0002c0002t0066 a0002c0002t0083 a0002c0002t0087 a0005c0004t0004	a0001c0001t0002g0329 a0001c0001t0004g0186 a0001c0001t0005g0013 others(75): Show a0001c0001t0002g0329 a0001c0001t0004g0186 a0001c0001t0005g0013 a0001c0001t0005g0021 a0001c0001t0005g0155 a0001c0001t0005g0199 a0001c0001t0005g0214 a0001c0001t0005g0253 a0001c0001t0005g0275 a0001c0001t0005g0276 a0001c0001t0005g0324 a0001c0001t0006g0002 a0001c0001t0006g0148 a0001c0001t0006g0245 a0001c0001t0006g0246 a0001c0001t0006g0247 a0001c0001t0006g0256 a0001c0001t0010g0015 a0001c0001t0010g0200 a0001c0001t0010g0204 a0001c0001t0010g0206 a0001c0001t0010g0244 a0001c0001t0021g0147 a0001c0001t0021g0194 a0001c0001t0035g0025 a0001c0001t0057g0311 a0001c0001t0061g0336 a0001c0001t0067g0288 a0001c0001t0074g0287 a0001c0001t0076g0286 a0001c0001t0078g0285 a0001c0001t0080g0321 a0001c0001t0084g0146 a0001c0001t0086g0334 a0001c0001t0090g0280 a0001c0001t0091g0322 a0001c0009t0006g0215 a0001c0010t0002g0277 a0002c0002t0002g0004 a0002c0002t0002g0051 a0002c0002t0002g0054 a0002c0002t0002g0070 a0002c0002t0002g0075 a0002c0002t0002g0079 a0002c0002t0002g0094 a0002c0002t0002g0097 a0002c0002t0002g0111 a0002c0002t0004g0031 a0002c0002t0004g0088 a0002c0002t0004g0090 a0002c0002t0004g0100 a0002c0002t0004g0103 a0002c0002t0004g0106 a0002c0002t0004g0127 a0002c0002t0006g0086 a0002c0002t0009g0056 a0002c0002t0009g0063 a0002c0002t0009g0065 a0002c0002t0009g0081 a0002c0002t0009g0082 a0002c0002t0009g0089 a0002c0002t0009g0125 a0002c0002t0014g0038 a0002c0002t0014g0047 a0002c0002t0014g0114 a0002c0002t0017g0083 a0002c0002t0018g0050 a0002c0002t0022g0035 a0002c0002t0029g0071 a0002c0002t0029g0072 a0002c0002t0058g0052 a0002c0002t0059g0061 a0002c0002t0062g0085 a0002c0002t0065g0045 a0002c0002t0066g0108 a0002c0002t0083g0087 a0002c0002t0087g0044 a0005c0004t0004g0034	86	370	0.2324	20	c.113 others(41): Show c.1134+14234_1134+14253dupATTTATTTATTTATTTATTT	GABRA4	ENSG00000109158.11	transcript	ENST00000264318.4	protein_coding	8/8			chr4	TogoVar
GABRA4_chr4_46913900_46998581	46977330	A A	AAGGGAGG others(13): Show AAGGGAGGGAGGAAGGGAGGG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp2 HG00642.hp2 others(20): Show HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00733.hp2 HG01261.hp2 HG03017.hp2 HG03490.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG06807.hp1 NA18945.hp2 NA18964.hp2 NA18968.hp1 NA18970.hp2 NA18984.hp1 NA18985.hp1 NA18987.hp1 NA18999.hp1 NA19066.hp1 NA19067.hp2 NA20752.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0016 a0001c0001t0033 a0001c0001t0034 a0001c0001t0043 a0001c0001t0049 a0001c0001t0057 a0001c0001t0072 a0001c0001t0073	a0001c0001t0001g0308 a0001c0001t0001g0314 a0001c0001t0002g0329 others(19): Show a0001c0001t0001g0308 a0001c0001t0001g0314 a0001c0001t0002g0329 a0001c0001t0008g0023 a0001c0001t0008g0310 a0001c0001t0009g0149 a0001c0001t0011g0312 a0001c0001t0012g0309 a0001c0001t0013g0318 a0001c0001t0016g0189 a0001c0001t0016g0190 a0001c0001t0016g0191 a0001c0001t0016g0193 a0001c0001t0016g0273 a0001c0001t0033g0326 a0001c0001t0034g0328 a0001c0001t0034g0330 a0001c0001t0043g0320 a0001c0001t0049g0327 a0001c0001t0057g0311 a0001c0001t0072g0170 a0001c0001t0073g0171	23	370	0.0622	20	c.494 others(33): Show c.494+79_494+80insCCCTCCCTTCCTCCCTCCCT	GABRA4	ENSG00000109158.11	transcript	ENST00000264318.4	protein_coding	4/8			chr4	TogoVar
GABRA5_chr15_26862062_26954208	26911388	C C	CACACACA others(13): Show CACACACACAAACACACACAA	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02071.hp1 HG02132.hp1 others(4): Show HG02015.hp2 HG02071.hp1 HG02132.hp1 HG02523.hp2 HG02738.hp1 HG03831.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0083 a0001c0001t0001g0132 a0001c0001t0001g0262 others(4): Show a0001c0001t0001g0083 a0001c0001t0001g0132 a0001c0001t0001g0262 a0001c0001t0001g0341 a0001c0002t0001g0103 a0001c0002t0001g0123 a0001c0002t0001g0345	7	376	0.0186	20	c.498 others(37): Show c.498-3396_498-3395insAACACACACAAACACACACA	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(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02056.hp1 HG02735.hp2 others(8): Show HG01361.hp2 HG02056.hp1 HG02735.hp2 HG02922.hp2 HG03516.hp2 HG03688.hp1 HG03688.hp2 HG04115.hp1 HG04199.hp2 NA18953.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0002t0004 a0001c0002t0005 a0001c0003t0012 a0001c0006t0006	a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0074 others(8): Show a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0002g0073 a0001c0001t0002g0092 a0001c0001t0009g0031 a0001c0002t0004g0125 a0001c0002t0005g0039 a0001c0003t0012g0139 a0001c0006t0006g0126	11	158	0.0696	20	c.241 others(37): Show c.241-5322_241-5303dupATATATATATATATATATAT	GABRB1	ENSG00000163288.14	transcript	ENST00000295454.8	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
GABRB1_chr4_47026567_47431447	47350183	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0104 a0001c0002t0004g0104	1	158	0.0063	20	c.544 others(39): Show c.544+29991_544+30010dupTATATATATATATATATATA	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(13): Show TATATATATAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0145 a0001c0001t0002g0145	1	158	0.0063	20	c.544 others(39): Show c.544+30010_544+30011insTATATATAGAGAGAGAGAGA	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(13): Show GTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0105 a0001c0002t0004g0105	1	158	0.0063	20	c.545 others(37): Show c.545-2783_545-2764dupTCTCTCTCTCTCTCTCTCTC	GABRB1	ENSG00000163288.14	transcript	ENST00000295454.8	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
GABRB2_chr5_161283436_161551725	161341968	T T	TATATATA others(13): Show TATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0094 a0001c0001t0009g0094	1	266	0.0038	20	c.542 others(37): Show c.542-5200_542-5199insGTATATATATATATATATAT	GABRB2	ENSG00000145864.14	transcript	ENST00000393959.6	protein_coding	5/9			chr5	TogoVar
GABRB2_chr5_161283436_161551725	161359440	G G	GACACACA others(13): Show GACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG02735.hp1 HG01167.hp2 HG01169.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0003t0021 a0001c0001t0004 a0001c0003t0021	a0001c0001t0004g0052 a0001c0003t0021g0149 a0001c0003t0021g0150 a0001c0001t0004g0052 a0001c0003t0021g0149 a0001c0003t0021g0150	3	266	0.0113	20	c.542 others(39): Show c.542-22691_542-22672dupGTGTGTGTGTGTGTGTGTGT	GABRB2	ENSG00000145864.14	transcript	ENST00000393959.6	protein_coding	5/9			chr5	TogoVar
GABRB2_chr5_161283436_161551725	161416696	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp2 HG01258.hp2 others(8): Show HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01928.hp1 HG02004.hp2 HG02300.hp1 HG02717.hp2 HG02970.hp1 HG03492.hp2 NA18984.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0016 a0001c0002t0037	a0001c0001t0001g0200 a0001c0001t0003g0070 a0001c0001t0003g0076 others(8): Show a0001c0001t0001g0200 a0001c0001t0003g0070 a0001c0001t0003g0076 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0084 a0001c0001t0003g0160 a0001c0001t0005g0197 a0001c0001t0008g0157 a0001c0001t0016g0075 a0001c0002t0037g0222	11	266	0.0414	20	c.459 others(37): Show c.459-5659_459-5640dupTTTTTTTTTTTTTTTTTTTT	GABRB2	ENSG00000145864.14	transcript	ENST00000393959.6	protein_coding	4/9			chr5	TogoVar
GABRB2_chr5_161283436_161551725	161527183	A A	ACCTAAGG others(13): Show ACCTAAGGACAAGAAGGATTT	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01516.hp1 HG01517.hp2 HG01257.hp1 HG01516.hp1 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0017 a0001c0001t0001 a0001c0001t0017	a0001c0001t0001g0263 a0001c0001t0017g0262 a0001c0001t0017g0264 a0001c0001t0001g0263 a0001c0001t0017g0262 a0001c0001t0017g0264	3	266	0.0113	20	c.237 others(39): Show c.237+18024_237+18043dupAAATCCTTCTTGTCCTTAGG	GABRB2	ENSG00000145864.14	transcript	ENST00000393959.6	protein_coding	3/9			chr5	TogoVar
GABRB2_chr5_161283436_161551725	161527842	G G	GAGTGCGA others(13): Show GAGTGCGAATGGAATTCGCAC	intron_variant intron_variant	MODIFIER	HG02647.hp2 NA19043.hp2 HG02647.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0033 a0001c0001t0001 a0001c0001t0033	a0001c0001t0001g0020 a0001c0001t0033g0259 a0001c0001t0001g0020 a0001c0001t0033g0259	2	266	0.0075	20	c.237 others(39): Show c.237+17384_237+17385insGTGCGAATTCCATTCGCACT	GABRB2	ENSG00000145864.14	transcript	ENST00000393959.6	protein_coding	3/9			chr5	TogoVar
GABRB3_chr15_26538552_26778066	26554017	C C	CTATGTAT others(13): Show CTATGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0043 a0001c0001t0003g0043	1	204	0.0049	20	c.108 others(39): Show c.1081-5884_1081-5883insTATATATATATATATACATA	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	8/8			chr15	TogoVar
GABRB3_chr15_26538552_26778066	26554021	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG03710.hp1 HG00140.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0014 a0001c0001t0004 a0001c0001t0014	a0001c0001t0004g0160 a0001c0001t0014g0196 a0001c0001t0004g0160 a0001c0001t0014g0196	2	204	0.0098	20	c.108 others(39): Show c.1081-5888_1081-5887insTATATATATATATATATATA	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	8/8			chr15	TogoVar
GABRB3_chr15_26538552_26778066	26554021	T T	TTTTATAT others(13): Show TTTTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02615.hp2 HG02622.hp2 others(5): Show HG02258.hp1 HG02615.hp2 HG02622.hp2 HG02809.hp2 HG02895.hp1 HG03130.hp1 HG03486.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0033 a0001c0001t0005 a0001c0001t0033	a0001c0001t0005g0009 a0001c0001t0005g0025 a0001c0001t0005g0026 others(5): Show a0001c0001t0005g0009 a0001c0001t0005g0025 a0001c0001t0005g0026 a0001c0001t0005g0045 a0001c0001t0005g0099 a0001c0001t0005g0152 a0001c0001t0005g0189 a0001c0001t0033g0201	8	204	0.0392	20	c.108 others(39): Show c.1081-5888_1081-5887insTATATATATATATATATAAA	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	8/8			chr15	TogoVar
GABRB3_chr15_26538552_26778066	26554039	A A	ATATATAT others(13): Show ATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02717.hp1 NA18968.hp2 HG02717.hp1 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0055 a0001c0001t0002g0024 a0001c0001t0002g0055	2	204	0.0098	20	c.108 others(39): Show c.1081-5906_1081-5905insAATATATATATATATATATA	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	8/8			chr15	TogoVar
GABRB3_chr15_26538552_26778066	26554043	A A	ATATATAT others(13): Show ATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0202 a0001c0001t0035g0202	1	204	0.0049	20	c.108 others(39): Show c.1081-5910_1081-5909insAATATATATATATATATATA	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	8/8			chr15	TogoVar
GABRB3_chr15_26538552_26778066	26554176	G G	GTATATAT others(13): Show GTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02040.hp2 HG02293.hp1 others(4): Show HG02015.hp1 HG02040.hp2 HG02293.hp1 HG03017.hp2 NA18980.hp2 NA18983.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0013 a0001c0001t0001 a0001c0001t0012 a0001c0001t0013	a0001c0001t0001g0048 a0001c0001t0001g0109 a0001c0001t0001g0126 others(4): Show a0001c0001t0001g0048 a0001c0001t0001g0109 a0001c0001t0001g0126 a0001c0001t0001g0179 a0001c0001t0001g0184 a0001c0001t0012g0059 a0001c0001t0013g0171	7	204	0.0343	20	c.108 others(39): Show c.1081-6043_1081-6042insTATATATATATATATATATA	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	8/8			chr15	TogoVar
GABRB3_chr15_26538552_26778066	26586397	A A	AACACACA others(13): Show AACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02155.hp2 HG02258.hp2 others(9): Show HG01109.hp1 HG02155.hp2 HG02258.hp2 HG02300.hp1 HG02895.hp2 HG03130.hp2 HG03471.hp2 HG03486.hp1 HG03688.hp1 HG04115.hp1 NA18978.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0001t0010 a0001c0004t0002	a0001c0001t0001g0111 a0001c0001t0001g0180 a0001c0001t0001g0187 others(9): Show a0001c0001t0001g0111 a0001c0001t0001g0180 a0001c0001t0001g0187 a0001c0001t0004g0047 a0001c0001t0004g0087 a0001c0001t0004g0182 a0001c0001t0008g0056 a0001c0001t0008g0072 a0001c0001t0008g0081 a0001c0001t0008g0095 a0001c0001t0010g0049 a0001c0004t0002g0011	12	204	0.0588	20	c.462 others(37): Show c.462-3003_462-2984dupGTGTGTGTGTGTGTGTGTGT	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	4/8			chr15	TogoVar
GABRB3_chr15_26538552_26778066	26760809	G G	GCACACAC others(13): Show GCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0079 a0001c0001t0011g0079	1	204	0.0049	20	c.240 others(39): Show c.240+11592_240+11593insTGTGTGTGTGTGTGTGTGTG	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	3/8			chr15	TogoVar
GABRB3_chr15_26538552_26778066	26763607	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0084 a0001c0001t0004g0084	1	204	0.0049	20	c.240 others(37): Show c.240+8775_240+8794dupGTGTGTGTGTGTGTGTGTGT	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	3/8			chr15	TogoVar
GABRD_chr1_2014345_2035758	2015938	A A	ATGGGGCA others(13): Show ATGGGGCATAACCTCCAGTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	364	0.0028	20	c.-34 others(31): Show c.-3486_-3485insTGGGGCATAACCTCCAGTAT	GABRD	ENSG00000187730.9	transcript	ENST00000378585.7	protein_coding		3406		chr1	TogoVar
GABRD_chr1_2014345_2035758	2018334	A A	AATAACAT others(13): Show AATAACATAACATAACATAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG03579.hp2 NA20129.hp1 HG01109.hp2 HG03579.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0006 a0001c0001t0001g0128 a0001c0002t0001g0036 a0001c0001t0001g0006 a0001c0001t0001g0128 a0001c0002t0001g0036	3	364	0.0082	20	c.-10 others(31): Show c.-1090_-1089insATAACATAACATAACATAAC	GABRD	ENSG00000187730.9	transcript	ENST00000378585.7	protein_coding		1010		chr1	TogoVar
GABRG1_chr4_46030769_46129054	46048370	A A	AGAAGGAA others(13): Show AGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02602.hp1 NA20129.hp1 HG01952.hp2 HG02602.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0005 a0001c0002t0002 a0001c0002t0005	a0001c0002t0002g0060 a0001c0002t0005g0058 a0001c0002t0005g0124 a0001c0002t0002g0060 a0001c0002t0005g0058 a0001c0002t0005g0124	3	308	0.0097	20	c.113 others(39): Show c.1131+3034_1131+3053dupCTTCCTTCCTTCCTTCCTTC	GABRG1	ENSG00000163285.8	transcript	ENST00000295452.5	protein_coding	8/8			chr4	TogoVar
GABRG2_chr5_162062773_162160526	162109388	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0257 a0001c0001t0004g0257	1	328	0.0031	20	c.769 others(37): Show c.769+5362_769+5363insTATATATATATATATATATA	GABRG2	ENSG00000113327.17	transcript	ENST00000639213.2	protein_coding	6/9			chr5	TogoVar
GABRG2_chr5_162062773_162160526	162109389	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03516.hp2 HG03209.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0004t0005 a0001c0001t0002 a0001c0004t0005	a0001c0001t0002g0029 a0001c0004t0005g0237 a0001c0001t0002g0029 a0001c0004t0005g0237	2	328	0.0061	20	c.769 others(37): Show c.769+5378_769+5397dupATATATATATATATATATAT	GABRG2	ENSG00000113327.17	transcript	ENST00000639213.2	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
GABRG2_chr5_162062773_162160526	162109420	A A	ATATATAT others(13): Show ATATATATATATTTATTTATT	intron_variant intron_variant	MODIFIER	HG00438.hp1 NA19007.hp2 HG00438.hp1 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0133 a0001c0001t0003g0109 a0001c0001t0001g0133 a0001c0001t0003g0109	2	328	0.0061	20	c.769 others(37): Show c.769+5397_769+5398insATATATATTTATTTATTTAT	GABRG2	ENSG00000113327.17	transcript	ENST00000639213.2	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
GABRG2_chr5_162062773_162160526	162109420	A A	ATATATAT others(13): Show ATATATATTTATTTATTTATT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0247 a0001c0008t0001g0247	1	328	0.0031	20	c.769 others(37): Show c.769+5397_769+5398insATATTTATTTATTTATTTAT	GABRG2	ENSG00000113327.17	transcript	ENST00000639213.2	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr5	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)