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
GAB2_chr11_78210293_78422820	78309971	T T	TGTGTGTG others(17): Show TGTGTGTGTGTGTGTGTGTGTGCGC	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0015 a0001c0017t0015	a0001c0017t0015g0114 a0001c0017t0015g0114	1	288	0.0035	24	c.76- others(41): Show c.76-29071_76-29070insGCGCACACACACACACACACACAC	GAB2	ENSG00000033327.13	transcript	ENST00000361507.5	protein_coding	1/9			chr11	TogoVar
GAB2_chr11_78210293_78422820	78318369	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01346.hp2 HG02027.hp2 others(13): Show HG01192.hp2 HG01346.hp2 HG02027.hp2 HG02109.hp1 HG02647.hp2 HG03017.hp1 HG03041.hp2 HG03195.hp1 HG03492.hp1 NA18522.hp1 NA18906.hp2 NA18947.hp2 NA18964.hp1 NA19009.hp1 NA19087.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0001t0004 a0001c0002t0009 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0009 a0001c0002t0035 a0001c0002t0037 a0001c0005t0040	a0001c0001t0001g0160 a0001c0001t0001g0181 a0001c0001t0001g0182 others(13): Show a0001c0001t0001g0160 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0200 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0275 a0001c0001t0001g0277 a0001c0001t0001g0285 a0001c0001t0004g0261 a0001c0002t0009g0137 a0001c0002t0035g0081 a0001c0002t0037g0088 a0001c0005t0040g0129	16	288	0.0556	24	c.76- others(41): Show c.76-37469_76-37468insTTTTTTTTTTTTTTTTTTTTTTTT	GAB2	ENSG00000033327.13	transcript	ENST00000361507.5	protein_coding	1/9			chr11	TogoVar
GAB2_chr11_78210293_78422820	78370712	C C	CCTGTGTG others(17): Show CCTGTGTGTATGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02717.hp1 NA21309.hp1 HG02717.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0021 a0001c0003t0020 a0001c0002t0021 a0001c0003t0020	a0001c0002t0021g0126 a0001c0003t0020g0140 a0001c0002t0021g0126 a0001c0003t0020g0140	2	288	0.0069	24	c.75+ others(41): Show c.75+46933_75+46934insACACACACACACACATACACACAG	GAB2	ENSG00000033327.13	transcript	ENST00000361507.5	protein_coding	1/9			chr11	TogoVar
GAB2_chr11_78210293_78422820	78383581	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02055.hp2 HG03453.hp2 others(3): Show HG02027.hp1 HG02055.hp2 HG03453.hp2 NA18964.hp2 NA18993.hp2 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0002t0005 a0001c0002t0009 others(1): Show a0001c0002t0002 a0001c0002t0005 a0001c0002t0009 a0001c0003t0020	a0001c0002t0002g0004 a0001c0002t0002g0022 a0001c0002t0005g0092 others(3): Show a0001c0002t0002g0004 a0001c0002t0002g0022 a0001c0002t0005g0092 a0001c0002t0009g0135 a0001c0002t0009g0139 a0001c0003t0020g0140	6	288	0.0208	24	c.75+ others(41): Show c.75+34064_75+34065insTTTTTTTTTTTTTTTTTTTTTTTT	GAB2	ENSG00000033327.13	transcript	ENST00000361507.5	protein_coding	1/9			chr11	TogoVar
GAB2_chr11_78210293_78422820	78398021	T T	TACACACA others(17): Show TACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02451.hp2 HG01074.hp1 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0051 a0001c0008t0039 a0001c0001t0051 a0001c0008t0039	a0001c0001t0051g0105 a0001c0008t0039g0099 a0001c0001t0051g0105 a0001c0008t0039g0099	2	288	0.0069	24	c.75+ others(41): Show c.75+19624_75+19625insGTGTGTGTGTGTGTGTGTGTGTGT	GAB2	ENSG00000033327.13	transcript	ENST00000361507.5	protein_coding	1/9			chr11	TogoVar
GAB2_chr11_78210293_78422820	78398041	C C	CACACACA others(17): Show CACACACACACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0034 a0001c0008t0034	a0001c0008t0034g0089 a0001c0008t0034g0089	1	288	0.0035	24	c.75+ others(41): Show c.75+19604_75+19605insATGTGTGTGTGTGTGTGTGTGTGT	GAB2	ENSG00000033327.13	transcript	ENST00000361507.5	protein_coding	1/9			chr11	TogoVar
GAB3_chrX_154670249_154756077	154672242	T T	TTTCTTCC others(17): Show TTTCTTCCTCTTCTTCTTCTTCTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG01256.hp1 HG01975.hp2 others(1): Show HG00733.hp2 HG01256.hp1 HG01975.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0004 a0001c0001t0001g0093 a0001c0001t0001g0241 others(1): Show a0001c0001t0001g0004 a0001c0001t0001g0093 a0001c0001t0001g0241 a0001c0001t0009g0029	4	257	0.0156	24	c.59 others(35): Show c.5935_*5936insGAAGAAGAAGAAGAAGAGGAAGAA	GAB3	ENSG00000160219.12	transcript	ENST00000424127.3	protein_coding		3006		chrX	TogoVar
GAB3_chrX_154670249_154756077	154672298	T T	TCTTCTTC others(17): Show TCTTCTTCTTCTTCTTCTTCCTCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0113 a0001c0001t0003g0113	1	257	0.0039	24	c.58 others(35): Show c.5879_*5880insGGGAGGAAGAAGAAGAAGAAGAAG	GAB3	ENSG00000160219.12	transcript	ENST00000424127.3	protein_coding		2950		chrX	TogoVar
GABBR2_chr9_98283109_98713935	98393157	C C	CCCATCCA others(17): Show CCCATCCATCCATCCATCCATCCAT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02165.hp2 HG02622.hp1 others(11): Show HG01081.hp1 HG02165.hp2 HG02622.hp1 HG02683.hp1 HG02809.hp1 HG02965.hp1 HG03209.hp1 HG03471.hp2 HG03486.hp1 HG03834.hp1 NA18522.hp2 NA18969.hp2 NA18994.hp2 NA19007.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0007 others(5): Show a0001c0001 a0001c0002 a0001c0007 a0001c0028 a0002c0004 a0002c0008 a0002c0018 a0002c0022	a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 others(11): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0001t0015 a0001c0001t0016 a0001c0001t0048 a0001c0002t0001 a0001c0002t0012 a0001c0007t0010 a0001c0028t0010 a0002c0004t0049 a0002c0008t0004 a0002c0018t0002 a0002c0022t0029	a0001c0001t0003g0029 a0001c0001t0005g0092 a0001c0001t0009g0115 others(11): Show a0001c0001t0003g0029 a0001c0001t0005g0092 a0001c0001t0009g0115 a0001c0001t0015g0042 a0001c0001t0016g0037 a0001c0001t0048g0071 a0001c0002t0001g0136 a0001c0002t0012g0097 a0001c0007t0010g0009 a0001c0028t0010g0014 a0002c0004t0049g0074 a0002c0008t0004g0161 a0002c0018t0002g0023 a0002c0022t0029g0060	14	164	0.0854	24	c.137 others(42): Show c.1378+994_1378+1017dupATGGATGGATGGATGGATGGATGG	GABBR2	ENSG00000136928.7	transcript	ENST00000259455.4	protein_coding	9/18			chr9	TogoVar
GABBR2_chr9_98283109_98713935	98393342	A A	ACCATCCA others(17): Show ACCATCCATCCATCCATCCATCCAT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01243.hp2 HG02572.hp1 others(15): Show HG01081.hp1 HG01243.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02622.hp1 HG02647.hp1 HG02809.hp1 HG02895.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03209.hp1 HG03486.hp1 NA18906.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0001c0028 others(8): Show a0001c0001 a0001c0007 a0001c0028 a0002c0004 a0002c0006 a0002c0012 a0002c0014 a0002c0017 a0002c0018 a0002c0022 a0002c0027	a0001c0001t0015 a0001c0001t0047 a0001c0007t0010 others(13): Show a0001c0001t0015 a0001c0001t0047 a0001c0007t0010 a0001c0007t0011 a0001c0007t0016 a0001c0007t0033 a0001c0028t0010 a0002c0004t0036 a0002c0006t0007 a0002c0012t0002 a0002c0014t0002 a0002c0017t0002 a0002c0018t0002 a0002c0018t0006 a0002c0022t0029 a0002c0027t0002	a0001c0001t0015g0042 a0001c0001t0047g0075 a0001c0007t0010g0009 others(15): Show a0001c0001t0015g0042 a0001c0001t0047g0075 a0001c0007t0010g0009 a0001c0007t0011g0007 a0001c0007t0011g0052 a0001c0007t0016g0018 a0001c0007t0033g0005 a0001c0028t0010g0014 a0002c0004t0036g0046 a0002c0006t0007g0031 a0002c0012t0002g0015 a0002c0014t0002g0050 a0002c0017t0002g0019 a0002c0017t0002g0038 a0002c0018t0002g0023 a0002c0018t0006g0090 a0002c0022t0029g0060 a0002c0027t0002g0062	18	164	0.1098	24	c.137 others(41): Show c.1378+809_1378+832dupATGGATGGATGGATGGATGGATGG	GABBR2	ENSG00000136928.7	transcript	ENST00000259455.4	protein_coding	9/18			chr9	TogoVar
GABBR2_chr9_98283109_98713935	98436288	T T	TATATATA others(17): Show TATATATATATATATATATCCATAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0077 a0001c0001t0043g0077	1	164	0.0061	24	c.123 others(45): Show c.1236+17692_1236+17693insTTATGGATATATATATATATATAT	GABBR2	ENSG00000136928.7	transcript	ENST00000259455.4	protein_coding	7/18			chr9	TogoVar
GABBR2_chr9_98283109_98713935	98463590	C C	CCTCTCGC others(17): Show CCTCTCGCTCTCCGTCTCGCTCTCG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02965.hp2 HG01081.hp1 HG02965.hp2	a0001 a0001	a0001c0007 a0001c0021 a0001c0007 a0001c0021	a0001c0007t0010 a0001c0021t0003 a0001c0007t0010 a0001c0021t0003	a0001c0007t0010g0009 a0001c0021t0003g0049 a0001c0007t0010g0009 a0001c0021t0003g0049	2	164	0.0122	24	c.100 others(43): Show c.1000-9397_1000-9374dupCGAGAGCGAGACGGAGAGCGAGAG	GABBR2	ENSG00000136928.7	transcript	ENST00000259455.4	protein_coding	6/18			chr9	TogoVar
GABBR2_chr9_98283109_98713935	98576933	T T	TGGATGGA others(17): Show TGGATGGATGGATGGATGGATGGAA	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18967.hp2 NA18959.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0146 a0001c0001t0008g0094 a0001c0001t0001g0146 a0001c0001t0008g0094	2	164	0.0122	24	c.459 others(41): Show c.459+1001_459+1002insTTCCATCCATCCATCCATCCATCC	GABBR2	ENSG00000136928.7	transcript	ENST00000259455.4	protein_coding	2/18			chr9	TogoVar
GABBR2_chr9_98283109_98713935	98648116	T T	TGTGTGTG others(17): Show TGTGTGTGTATAGATAGATAGATAG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02257.hp1 HG03239.hp1 others(1): Show HG00741.hp2 HG02257.hp1 HG03239.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0007 others(1): Show a0001c0002 a0001c0003 a0001c0007 a0002c0009	a0001c0002t0023 a0001c0003t0001 a0001c0007t0033 others(1): Show a0001c0002t0023 a0001c0003t0001 a0001c0007t0033 a0002c0009t0002	a0001c0002t0023g0151 a0001c0003t0001g0142 a0001c0007t0033g0005 others(1): Show a0001c0002t0023g0151 a0001c0003t0001g0142 a0001c0007t0033g0005 a0002c0009t0002g0063	4	164	0.0244	24	c.321 others(43): Show c.321+60300_321+60301insCTATCTATCTATCTATACACACAC	GABBR2	ENSG00000136928.7	transcript	ENST00000259455.4	protein_coding	1/18			chr9	TogoVar
GABBR2_chr9_98283109_98713935	98648116	T T	TGTGTGTG others(17): Show TGTGTGTGTGTGTATAGATAGATAG	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0096 a0001c0002t0008g0096	1	164	0.0061	24	c.321 others(43): Show c.321+60300_321+60301insCTATCTATCTATACACACACACAC	GABBR2	ENSG00000136928.7	transcript	ENST00000259455.4	protein_coding	1/18			chr9	TogoVar
GABBR2_chr9_98283109_98713935	98648116	T T	TGTGTGTG others(17): Show TGTGTGTGTGTGTGTGTATAGATAG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02165.hp1 HG02165.hp2 others(7): Show HG00741.hp1 HG02165.hp1 HG02165.hp2 HG02723.hp2 HG02895.hp2 HG02897.hp1 HG03209.hp1 HG03710.hp1 HG03831.hp1 NA18995.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0005 others(2): Show a0001c0001 a0001c0003 a0001c0005 a0002c0008 a0002c0022	a0001c0001t0005 a0001c0001t0012 a0001c0001t0021 others(5): Show a0001c0001t0005 a0001c0001t0012 a0001c0001t0021 a0001c0003t0022 a0001c0005t0013 a0002c0008t0004 a0002c0008t0020 a0002c0022t0029	a0001c0001t0005g0092 a0001c0001t0012g0117 a0001c0001t0021g0106 others(7): Show a0001c0001t0005g0092 a0001c0001t0012g0117 a0001c0001t0021g0106 a0001c0003t0022g0083 a0001c0005t0013g0072 a0001c0005t0013g0080 a0001c0005t0013g0081 a0002c0008t0004g0120 a0002c0008t0020g0085 a0002c0022t0029g0060	10	164	0.0610	24	c.321 others(43): Show c.321+60300_321+60301insCTATCTATACACACACACACACAC	GABBR2	ENSG00000136928.7	transcript	ENST00000259455.4	protein_coding	1/18			chr9	TogoVar
GABBR2_chr9_98283109_98713935	98648116	T T	TGTGTGTG others(17): Show TGTGTGTGTGTGTGTGTGTGTATAG	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0004 a0001c0001t0003g0004	1	164	0.0061	24	c.321 others(43): Show c.321+60300_321+60301insCTATACACACACACACACACACAC	GABBR2	ENSG00000136928.7	transcript	ENST00000259455.4	protein_coding	1/18			chr9	TogoVar
GABRA1_chr5_161843120_161904971	161850081	T T	TTGTGTGT others(17): Show TTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01106.hp2 HG01257.hp2 others(6): Show HG00140.hp1 HG01106.hp2 HG01257.hp2 HG01346.hp1 HG01516.hp1 HG01517.hp2 HG02300.hp1 HG02630.hp1 HG03688.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0010 a0001c0002t0002g0055 a0001c0002t0002g0056 others(5): Show a0001c0002t0002g0010 a0001c0002t0002g0055 a0001c0002t0002g0056 a0001c0002t0002g0133 a0001c0002t0002g0134 a0001c0002t0002g0135 a0001c0002t0002g0217 a0001c0002t0002g0218	9	394	0.0228	24	c.-15 others(39): Show c.-15-712_-15-689dupTGTGTGTGTGTGTGTGTGTGTGTG	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(17): Show ATGTGTGTGTGTGTGTGTGTGTGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01081.hp2 HG02015.hp2 HG02135.hp2 others(1): Show HG01081.hp2 HG02015.hp2 HG02135.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0078 a0001c0001t0126 a0001c0001t0159 others(1): Show a0001c0001t0078 a0001c0001t0126 a0001c0001t0159 a0001c0001t0169	a0001c0001t0078g0051 a0001c0001t0126g0144 a0001c0001t0159g0190 others(1): Show a0001c0001t0078g0051 a0001c0001t0126g0144 a0001c0001t0159g0190 a0001c0001t0169g0210	4	258	0.0155	24	c.12 others(35): Show c.1250_*1273dupCACACACACACACACACACACACA	GABRA2	ENSG00000151834.16	transcript	ENST00000381620.9	protein_coding	10/10	1273		chr4	TogoVar
GABRA2_chr4_46238548_46395128	46264986	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00558.hp1 others(11): Show HG00280.hp2 HG00408.hp1 HG00558.hp1 HG01074.hp2 HG01081.hp2 HG02027.hp1 HG03239.hp1 HG03688.hp1 NA18948.hp1 NA18968.hp1 NA18984.hp2 NA18992.hp2 NA19084.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0021 others(11): Show a0001c0001t0002 a0001c0001t0010 a0001c0001t0021 a0001c0001t0022 a0001c0001t0033 a0001c0001t0035 a0001c0001t0043 a0001c0001t0054 a0001c0001t0078 a0001c0001t0097 a0001c0001t0110 a0001c0001t0129 a0001c0001t0154 a0001c0001t0164	a0001c0001t0002g0094 a0001c0001t0010g0115 a0001c0001t0021g0077 others(11): Show a0001c0001t0002g0094 a0001c0001t0010g0115 a0001c0001t0021g0077 a0001c0001t0022g0085 a0001c0001t0033g0178 a0001c0001t0035g0193 a0001c0001t0043g0005 a0001c0001t0054g0026 a0001c0001t0078g0051 a0001c0001t0097g0096 a0001c0001t0110g0122 a0001c0001t0129g0147 a0001c0001t0154g0179 a0001c0001t0164g0194	14	258	0.0543	24	c.857 others(41): Show c.857-2859_857-2858insATATATATATATATATATATATAT	GABRA2	ENSG00000151834.16	transcript	ENST00000381620.9	protein_coding	8/9			chr4	TogoVar
GABRA2_chr4_46238548_46395128	46273504	T T	TATATATA others(17): Show TATATATATATATATATATATATGC	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0161 a0001c0002t0161	a0001c0002t0161g0192 a0001c0002t0161g0192	1	258	0.0039	24	c.857 others(43): Show c.857-11377_857-11376insGCATATATATATATATATATATAT	GABRA2	ENSG00000151834.16	transcript	ENST00000381620.9	protein_coding	8/9			chr4	TogoVar
GABRA2_chr4_46238548_46395128	46297476	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02965.hp1 HG03225.hp1 others(4): Show HG02630.hp1 HG02965.hp1 HG03225.hp1 HG03654.hp1 NA18945.hp2 NA18948.hp1 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0035 a0001c0001t0088 others(3): Show a0001c0001t0025 a0001c0001t0035 a0001c0001t0088 a0001c0001t0100 a0001c0001t0142 a0001c0001t0152	a0001c0001t0025g0119 a0001c0001t0035g0187 a0001c0001t0035g0193 others(4): Show a0001c0001t0025g0119 a0001c0001t0035g0187 a0001c0001t0035g0193 a0001c0001t0088g0069 a0001c0001t0100g0084 a0001c0001t0142g0159 a0001c0001t0152g0172	7	258	0.0271	24	c.856 others(41): Show c.856+5960_856+5983dupATATATATATATATATATATATAT	GABRA2	ENSG00000151834.16	transcript	ENST00000381620.9	protein_coding	8/9			chr4	TogoVar
GABRA2_chr4_46238548_46395128	46389802	G G	GGAGAGAG others(17): Show GGAGAGAGAGAGAGAGAGAGAGAGA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00323.hp2 HG00639.hp2 HG02622.hp1 others(1): Show HG00323.hp2 HG00639.hp2 HG02622.hp1 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0066 a0001c0001t0140 a0001c0002t0067 others(1): Show a0001c0001t0066 a0001c0001t0140 a0001c0002t0067 a0001c0002t0068	a0001c0001t0066g0040 a0001c0001t0140g0157 a0001c0002t0067g0041 others(1): Show a0001c0001t0066g0040 a0001c0001t0140g0157 a0001c0002t0067g0041 a0001c0002t0068g0039	4	258	0.0155	24	c.-10 others(32): Show c.-102_-79dupTCTCTCTCTCTCTCTCTCTCTCTC	GABRA2	ENSG00000151834.16	transcript	ENST00000381620.9	protein_coding	1/10	1097		chr4	TogoVar
GABRA4_chr4_46913900_46998581	46950716	A A	AAAATAAA others(17): Show AAAATAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00438.hp1 others(23): Show HG00140.hp1 HG00280.hp1 HG00438.hp1 HG00438.hp2 HG00673.hp1 HG00735.hp2 HG01261.hp2 HG02132.hp2 HG02559.hp2 HG02886.hp1 HG02895.hp2 HG02897.hp1 HG03239.hp2 HG03516.hp2 HG04199.hp2 NA18612.hp2 NA18945.hp1 NA18955.hp1 NA18964.hp1 NA18969.hp1 NA18972.hp2 NA18977.hp1 NA18977.hp2 NA19007.hp1 NA19056.hp1 NA19085.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 others(8): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0022 a0001c0001t0033 a0001c0001t0075 a0002c0002t0002 a0002c0002t0004 a0002c0002t0009 a0002c0002t0028 a0002c0002t0064	a0001c0001t0002g0208 a0001c0001t0005g0024 a0001c0001t0005g0274 others(19): Show a0001c0001t0002g0208 a0001c0001t0005g0024 a0001c0001t0005g0274 a0001c0001t0006g0019 a0001c0001t0022g0325 a0001c0001t0033g0326 a0001c0001t0075g0271 a0002c0002t0002g0008 a0002c0002t0002g0009 a0002c0002t0002g0053 a0002c0002t0002g0064 a0002c0002t0002g0073 a0002c0002t0002g0077 a0002c0002t0002g0084 a0002c0002t0004g0096 a0002c0002t0004g0099 a0002c0002t0004g0105 a0002c0002t0004g0112 a0002c0002t0009g0067 a0002c0002t0028g0060 a0002c0002t0028g0116 a0002c0002t0064g0093	26	370	0.0703	24	c.113 others(45): Show c.1134+14230_1134+14253dupATTTATTTATTTATTTATTTATTT	GABRA4	ENSG00000109158.11	transcript	ENST00000264318.4	protein_coding	8/8			chr4	TogoVar
GABRB1_chr4_47026567_47431447	47155916	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01175.hp1 HG02056.hp2 others(2): Show HG00639.hp2 HG01175.hp1 HG02056.hp2 HG02486.hp2 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0003t0006	a0001c0001t0001g0029 a0001c0001t0002g0077 a0001c0001t0002g0107 others(2): Show a0001c0001t0001g0029 a0001c0001t0002g0077 a0001c0001t0002g0107 a0001c0001t0004g0082 a0001c0003t0006g0004	5	158	0.0317	24	c.241 others(41): Show c.241-5326_241-5303dupATATATATATATATATATATATAT	GABRB1	ENSG00000163288.14	transcript	ENST00000295454.8	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
GABRB1_chr4_47026567_47431447	47400546	C C	CTCTCTCT others(17): Show CTCTCTCTCTCTCTCTCTCTCTCTT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0070 a0001c0003t0010g0070	1	158	0.0063	24	c.545 others(41): Show c.545-2764_545-2763insTCTCTCTCTCTCTCTTTCTCTCTC	GABRB1	ENSG00000163288.14	transcript	ENST00000295454.8	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
GABRB2_chr5_161283436_161551725	161416696	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01496.hp1 HG01928.hp2 others(4): Show HG01074.hp1 HG01496.hp1 HG01928.hp2 HG02280.hp2 HG02523.hp2 HG02809.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0001t0046 a0001c0002t0035	a0001c0001t0001g0183 a0001c0001t0001g0186 a0001c0001t0002g0159 others(4): Show a0001c0001t0001g0183 a0001c0001t0001g0186 a0001c0001t0002g0159 a0001c0001t0005g0098 a0001c0001t0008g0021 a0001c0001t0046g0038 a0001c0002t0035g0239	7	266	0.0263	24	c.459 others(41): Show c.459-5663_459-5640dupTTTTTTTTTTTTTTTTTTTTTTTT	GABRB2	ENSG00000145864.14	transcript	ENST00000393959.6	protein_coding	4/9			chr5	TogoVar
GABRB3_chr15_26538552_26778066	26554021	T T	TTATATAT others(17): Show TTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01071.hp1 NA20752.hp2 HG01071.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0027 a0001c0001t0004 a0001c0001t0027	a0001c0001t0004g0060 a0001c0001t0027g0027 a0001c0001t0004g0060 a0001c0001t0027g0027	2	204	0.0098	24	c.108 others(43): Show c.1081-5888_1081-5887insTATATATATATATATATATATATA	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	8/8			chr15	TogoVar
GABRB3_chr15_26538552_26778066	26554039	A A	ATATATAT others(17): Show ATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA19088.hp2 NA18967.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0105 a0001c0001t0002g0140 a0001c0001t0002g0105 a0001c0001t0002g0140	2	204	0.0098	24	c.108 others(43): Show c.1081-5906_1081-5905insAATATATATATATATATATATATA	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	8/8			chr15	TogoVar
GABRB3_chr15_26538552_26778066	26554176	G G	GAGTATAT others(17): Show GAGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0115 a0001c0001t0003g0115	1	204	0.0049	24	c.108 others(43): Show c.1081-6043_1081-6042insTATATATATATATATATATATACT	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	8/8			chr15	TogoVar
GABRB3_chr15_26538552_26778066	26554176	G G	GTATATAT others(17): Show GTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03540.hp2 NA21309.hp2 HG03540.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0067 a0001c0001t0001g0016 a0001c0001t0001g0067	2	204	0.0098	24	c.108 others(43): Show c.1081-6043_1081-6042insTATATATATATATATATATATATA	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	8/8			chr15	TogoVar
GABRB3_chr15_26538552_26778066	26554207	A A	ATATATAT others(17): Show ATATATATATATATATATATTTATT	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0121 a0001c0001t0003g0121	1	204	0.0049	24	c.108 others(43): Show c.1081-6074_1081-6073insAATAAATATATATATATATATATA	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	8/8			chr15	TogoVar
GABRB3_chr15_26538552_26778066	26554207	A A	ATATATAT others(17): Show ATATATATATATATATTTATTTATT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0169 a0001c0004t0002g0169	1	204	0.0049	24	c.108 others(43): Show c.1081-6074_1081-6073insAATAAATAAATATATATATATATA	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	8/8			chr15	TogoVar
GABRB3_chr15_26538552_26778066	26554207	A A	ATATATAT others(17): Show ATATATATATATTTATTTATTTATT	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0170 a0001c0001t0002g0170	1	204	0.0049	24	c.108 others(43): Show c.1081-6074_1081-6073insAATAAATAAATAAATATATATATA	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	8/8			chr15	TogoVar
GABRB3_chr15_26538552_26778066	26586397	A A	AACACACA others(17): Show AACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03139.hp1 HG02965.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0036 a0001c0002t0007 a0001c0001t0036 a0001c0002t0007	a0001c0001t0036g0204 a0001c0002t0007g0075 a0001c0001t0036g0204 a0001c0002t0007g0075	2	204	0.0098	24	c.462 others(41): Show c.462-3007_462-2984dupGTGTGTGTGTGTGTGTGTGTGTGT	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	4/8			chr15	TogoVar
GABRB3_chr15_26538552_26778066	26606805	T T	TATAGATA others(17): Show TATAGATAGATATATCTATAGATAG	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0058 a0001c0001t0006g0058	1	204	0.0049	24	c.461 others(43): Show c.461+14508_461+14509insCTATCTATAGATATATCTATCTAT	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	4/8			chr15	TogoVar
GABRB3_chr15_26538552_26778066	26649658	C C	CTGTGTGT others(17): Show CTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03130.hp2 NA18522.hp1 HG02723.hp1 HG03130.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0016 a0001c0001t0017 a0001c0001t0008 a0001c0001t0016 a0001c0001t0017	a0001c0001t0008g0081 a0001c0001t0016g0195 a0001c0001t0017g0082 a0001c0001t0008g0081 a0001c0001t0016g0195 a0001c0001t0017g0082	3	204	0.0147	24	c.241 others(43): Show c.241-28148_241-28125dupCACACACACACACACACACACACA	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	3/8			chr15	TogoVar
GABRG1_chr4_46030769_46129054	46128321	G G	GATATATA others(17): Show GATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02809.hp2 HG03041.hp2 HG02451.hp2 HG02809.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0002t0004 a0001c0001t0006 a0001c0002t0004	a0001c0001t0006g0027 a0001c0002t0004g0029 a0001c0002t0004g0030 a0001c0001t0006g0027 a0001c0002t0004g0029 a0001c0002t0004g0030	3	308	0.0097	24	c.-44 others(35): Show c.-4409_-4408insATATATATATATATATATATATAT	GABRG1	ENSG00000163285.8	transcript	ENST00000295452.5	protein_coding		4268		chr4	TogoVar
GABRG3_chr15_26966181_27546984	27062434	T T	TAAAAAAA others(17): Show TAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA21309.hp1 NA19030.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0071 a0001c0002t0001g0009 a0001c0001t0001g0071 a0001c0002t0001g0009	2	92	0.0217	24	c.270 others(43): Show c.270+35614_270+35637dupAAAAAAAAAAAAAAAAAAAAAAAA	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GABRG3_chr15_26966181_27546984	27088245	C C	CGGGGCGG others(17): Show CGGGGCGGGCGCGGGGGCGGGCGCG	intron_variant intron_variant	MODIFIER	HG03492.hp1 NA18522.hp1 HG03492.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0007 a0001c0005t0002 a0001c0001t0007 a0001c0005t0002	a0001c0001t0007g0010 a0001c0005t0002g0055 a0001c0001t0007g0010 a0001c0005t0002g0055	2	92	0.0217	24	c.270 others(43): Show c.270+61439_270+61462dupGGCGGGCGCGGGGGCGGGCGCGGG	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GABRQ_chrX_152632895_152662542	152659792	T T	TATATACA others(17): Show TATATACATATACATATACATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0012 a0005c0006t0012	a0005c0006t0012g0003 a0005c0006t0012g0003	1	298	0.0034	24	c.65 others(35): Show c.6511_*6512insATATACATATACATATACATATAC	GABRQ	ENSG00000268089.3	transcript	ENST00000598523.3	protein_coding		2251		chrX	TogoVar
GABRR2_chr6_89249464_89320299	89280247	T T	TATATATA others(17): Show TATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02004.hp2 HG01106.hp2 HG02004.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0005 a0001c0002t0001 a0001c0002t0005	a0001c0002t0001g0283 a0001c0002t0005g0068 a0001c0002t0001g0283 a0001c0002t0005g0068	2	366	0.0055	24	c.221 others(41): Show c.221-8526_221-8525insGTATATATATATATATATATATAT	GABRR2	ENSG00000111886.11	transcript	ENST00000402938.4	protein_coding	2/8			chr6	TogoVar
GABRR3_chr3_97980102_98040315	98026602	G G	GTCATCAT others(17): Show GTCATCATCATCATCATTAGCATCA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01243.hp2 HG01361.hp1 others(10): Show HG01175.hp1 HG01243.hp2 HG01361.hp1 HG02109.hp2 HG02809.hp1 HG03195.hp2 HG03471.hp1 HG03669.hp2 HG06807.hp2 NA18950.hp1 NA18951.hp2 NA18971.hp2 NA19057.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0002c0002t0008	a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0004g0213 others(10): Show a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0004g0213 a0001c0001t0004g0225 a0001c0001t0004g0276 a0001c0001t0005g0187 a0001c0001t0005g0280 a0001c0001t0005g0281 a0001c0001t0007g0025 a0001c0001t0007g0026 a0001c0001t0009g0274 a0001c0001t0010g0177 a0002c0002t0008g0269	13	382	0.0340	24	c.126 others(39): Show c.126-924_126-923insTGATGCTAATGATGATGATGATGA	GABRR3	ENSG00000183185.10	transcript	ENST00000472788.6	protein_coding	2/9			chr3	TogoVar
GAD1_chr2_170811887_170866151	170828276	T T	TTCCCTCT others(17): Show TTCCCTCTGCCGTCCTCACCTCTCC	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01891.hp1 HG01928.hp1 others(10): Show HG01346.hp1 HG01891.hp1 HG01928.hp1 HG01975.hp2 HG02148.hp1 HG02300.hp2 HG02572.hp2 HG02615.hp2 HG02809.hp1 HG02818.hp1 HG02922.hp2 HG03041.hp2 HG03471.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0004 a0006c0011 a0001c0001 a0001c0004 a0006c0011	a0001c0001t0007 a0001c0001t0012 a0001c0001t0018 others(2): Show a0001c0001t0007 a0001c0001t0012 a0001c0001t0018 a0001c0004t0001 a0006c0011t0007	a0001c0001t0007g0020 a0001c0001t0007g0383 a0001c0001t0012g0335 others(9): Show a0001c0001t0007g0020 a0001c0001t0007g0383 a0001c0001t0012g0335 a0001c0001t0018g0278 a0001c0004t0001g0220 a0001c0004t0001g0249 a0001c0004t0001g0250 a0001c0004t0001g0251 a0001c0004t0001g0252 a0001c0004t0001g0260 a0001c0004t0001g0364 a0006c0011t0007g0385	13	412	0.0316	24	c.146 others(41): Show c.146-1190_146-1189insCGTCCTCACCTCTCCTCCCTCTGC	GAD1	ENSG00000128683.14	transcript	ENST00000358196.8	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
GAD2_chr10_26211774_26309558	26295508	G G	GCACACAC others(17): Show GCACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG02622.hp1 HG01069.hp2 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0017 a0001c0001t0011g0112 a0001c0001t0001g0017 a0001c0001t0011g0112	2	294	0.0068	24	c.158 others(43): Show c.1584+2534_1584+2557dupCACACACACACACACACACACACA	GAD2	ENSG00000136750.13	transcript	ENST00000376261.8	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
GADD45GIP1_chr19_12948119_12962223	12962192	A A	ATTTCTTT others(17): Show ATTTCTTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	372	0.0027	24	c.-49 others(35): Show c.-4981_-4980insGAAAGAAAGAAAGAAAGAAAGAAA	GADD45GIP1	ENSG00000179271.3	transcript	ENST00000316939.3	protein_coding		4970		chr19	TogoVar
GADL1_chr3_30721197_30899661	30740957	T T	TTATTATA others(17): Show TTATTATATATTATATATTAATATA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02071.hp1 HG02074.hp2 others(24): Show HG01109.hp1 HG02071.hp1 HG02074.hp2 HG02109.hp1 HG02155.hp1 HG02559.hp2 HG02647.hp1 HG02717.hp2 HG02886.hp2 HG02896.hp2 HG02922.hp1 HG03098.hp2 HG03209.hp1 HG03516.hp1 HG03540.hp2 HG03669.hp2 NA18942.hp2 NA18957.hp1 NA18968.hp1 NA18982.hp1 NA18982.hp2 NA18992.hp2 NA18993.hp2 NA19000.hp1 NA19065.hp1 NA19084.hp1 NA20300.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0003 a0001c0001 a0004c0003	a0001c0001t0001 a0001c0001t0005 a0001c0001t0031 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0031 a0004c0003t0005	a0001c0001t0001g0028 a0001c0001t0001g0048 a0001c0001t0001g0050 others(24): Show a0001c0001t0001g0028 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0090 a0001c0001t0001g0121 a0001c0001t0001g0142 a0001c0001t0001g0170 a0001c0001t0001g0242 a0001c0001t0001g0249 a0001c0001t0001g0255 a0001c0001t0001g0261 a0001c0001t0001g0273 a0001c0001t0005g0116 a0001c0001t0005g0183 a0001c0001t0005g0188 a0001c0001t0005g0189 a0001c0001t0005g0190 a0001c0001t0005g0197 a0001c0001t0005g0201 a0001c0001t0005g0202 a0001c0001t0005g0222 a0001c0001t0005g0226 a0001c0001t0031g0108 a0004c0003t0005g0008 a0004c0003t0005g0118	27	282	0.0957	24	c.139 others(45): Show c.1393-12566_1393-12543dupTATATTAATATATAATATATAATA	GADL1	ENSG00000144644.15	transcript	ENST00000282538.10	protein_coding	14/14			chr3	TogoVar
GADL1_chr3_30721197_30899661	30798155	T T	TGTCACAT others(17): Show TGTCACATCCAGACTTTTGTGTCAC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0029 a0001c0008t0029	a0001c0008t0029g0059 a0001c0008t0029g0059	1	282	0.0036	24	c.125 others(43): Show c.1250+2710_1250+2733dupGTGACACAAAAGTCTGGATGTGAC	GADL1	ENSG00000144644.15	transcript	ENST00000282538.10	protein_coding	12/14			chr3	TogoVar
GADL1_chr3_30721197_30899661	30805734	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp2 NA18522.hp1 NA18954.hp2 others(2): Show HG02896.hp2 NA18522.hp1 NA18954.hp2 NA18957.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007	a0001c0001t0001g0261 a0001c0001t0002g0193 a0001c0001t0003g0060 others(2): Show a0001c0001t0001g0261 a0001c0001t0002g0193 a0001c0001t0003g0060 a0001c0001t0005g0202 a0001c0001t0007g0102	5	282	0.0177	24	c.105 others(43): Show c.1051-4670_1051-4647dupAAAAAAAAAAAAAAAAAAAAAAAA	GADL1	ENSG00000144644.15	transcript	ENST00000282538.10	protein_coding	11/14			chr3	TogoVar
GADL1_chr3_30721197_30899661	30867423	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0011 a0011	a0011c0013 a0011c0013	a0011c0013t0014 a0011c0013t0014	a0011c0013t0014g0013 a0011c0013t0014g0013	1	282	0.0036	24	c.38- others(39): Show c.38-5659_38-5658insATATATATATATATATATATATAT	GADL1	ENSG00000144644.15	transcript	ENST00000282538.10	protein_coding	1/14			chr3	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)