Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ 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
FTO_chr16_53699156_54126941	53950155	T T	TAAAAAAA others(25): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0136 a0001c0001t0004g0136	1	194	0.0052	32	c.136 others(53): Show c.1364+16070_1364+16071insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	FTO	ENSG00000140718.22	transcript	ENST00000471389.6	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr16	TogoVar
FUBP3_chr9_130574577_130643352	130589675	G G	GTGTGTGT others(25): Show GTGTGTGTATGTGTATGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01981.hp2 HG00735.hp1 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0111 a0001c0002t0002g0110 a0001c0001t0001g0111 a0001c0002t0002g0110	2	378	0.0053	32	c.85- others(47): Show c.85-5807_85-5806insGTGTGTATGTGTATGTATATATATATATAT AT	FUBP3	ENSG00000107164.17	transcript	ENST00000319725.10	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr9	TogoVar
FUBP3_chr9_130574577_130643352	130589675	G G	GTGTGTGT others(25): Show GTGTGTGTATGTGTATGTGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0114 a0001c0002t0002g0114	1	378	0.0027	32	c.85- others(47): Show c.85-5807_85-5806insGTGTGTATGTGTATGTGTATATATATATAT AT	FUBP3	ENSG00000107164.17	transcript	ENST00000319725.10	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr9	TogoVar
FUT8_chr14_65407730_65749121	65433786	T T	TTCTCTCT others(25): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0262 a0002c0004t0001g0262	1	374	0.0027	32	c.-32 others(53): Show c.-326+20573_-326+20604dupTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTC	FUT8	ENSG00000033170.17	transcript	ENST00000673929.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
FUT8_chr14_65407730_65749121	65474441	G G	GAAAAAAA others(25): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp2 NA19070.hp1 HG02809.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0002 a0001c0001t0010	a0001c0001t0002g0220 a0001c0001t0010g0090 a0001c0001t0002g0220 a0001c0001t0010g0090	2	374	0.0054	32	c.-22 others(53): Show c.-228+18739_-228+18740insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	FUT8	ENSG00000033170.17	transcript	ENST00000673929.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
FUT8_chr14_65407730_65749121	65580070	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0282 a0001c0001t0002g0282	1	374	0.0027	32	c.203 others(51): Show c.203+18324_203+18325insTATATATATATATATATATATATATA TATATA	FUT8	ENSG00000033170.17	transcript	ENST00000673929.1	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
FUT9_chr6_96010974_96220612	96035847	T T	TATTATGT others(25): Show TATTATGTTTATTATATTAATATAATATAATAC	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01934.hp2 HG01943.hp2 others(2): Show HG01070.hp1 HG01934.hp2 HG01943.hp2 HG01978.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0020 others(1): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0020 a0001c0001t0034	a0001c0001t0003g0119 a0001c0001t0005g0178 a0001c0001t0005g0279 others(2): Show a0001c0001t0003g0119 a0001c0001t0005g0178 a0001c0001t0005g0279 a0001c0001t0020g0237 a0001c0001t0034g0280	5	320	0.0156	32	c.-98 others(51): Show c.-98+19829_-98+19860dupTTATGTTTATTATATTAATATAATAT AATACA	FUT9	ENSG00000172461.11	transcript	ENST00000302103.6	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
FUT9_chr6_96010974_96220612	96106213	C C	CCCTTCCT others(25): Show CCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG01952.hp1 NA18906.hp2 HG01952.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0059 a0001c0001t0001 a0001c0001t0059	a0001c0001t0001g0256 a0001c0001t0059g0231 a0001c0001t0001g0256 a0001c0001t0059g0231	2	320	0.0063	32	c.-97 others(49): Show c.-97-7824_-97-7793dupCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTC	FUT9	ENSG00000172461.11	transcript	ENST00000302103.6	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
FXYD4_chr10_43366636_43381335	43367417	C C	CTATATAT others(25): Show CTATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02647.hp2 HG02723.hp1 HG02258.hp2 HG02647.hp2 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0030 a0001c0001t0002g0060 a0001c0001t0002g0002 a0001c0001t0002g0030 a0001c0001t0002g0060	3	426	0.0070	32	c.-45 others(43): Show c.-4559_-4558insTATATATATATATATATATATATATATATATA	FXYD4	ENSG00000150201.15	transcript	ENST00000476166.6	protein_coding		4218		chr10	TogoVar
FXYD5_chr19_35149735_35174881	35161221	A A	AACACACA others(25): Show AACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00735.hp2 HG02129.hp2 others(5): Show HG00323.hp2 HG00735.hp2 HG02129.hp2 HG02523.hp2 NA18947.hp1 NA18972.hp1 NA18974.hp2 NA19076.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 a0001c0001t0001 a0001c0001t0003 a0002c0002t0001	a0001c0001t0001g0046 a0001c0001t0001g0124 a0001c0001t0001g0145 others(4): Show a0001c0001t0001g0046 a0001c0001t0001g0124 a0001c0001t0001g0145 a0001c0001t0001g0169 a0001c0001t0001g0175 a0001c0001t0003g0090 a0002c0002t0001g0243	8	462	0.0173	32	c.292 others(47): Show c.292+447_292+448insCACACACACACACACACACACACACACACA CA	FXYD5	ENSG00000089327.15	transcript	ENST00000392219.7	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr19	TogoVar
FYB1_chr5_39100252_39224563	39148153	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0161 a0001c0001t0002g0161	1	326	0.0031	32	c.129 others(51): Show c.1292+5294_1292+5295insTATATATATATATATATATATATATA TATATA	FYB1	ENSG00000082074.19	transcript	ENST00000512982.4	protein_coding	3/18			chr5	TogoVar
FYB2_chr1_56713789_56824404	56757675	T T	TTTCCTTC others(25): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	380	0.0026	32	c.109 others(51): Show c.1098+1040_1098+1041insGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAA	FYB2	ENSG00000187889.13	transcript	ENST00000343433.7	protein_coding	6/19			chr1	TogoVar
FYB2_chr1_56713789_56824404	56757687	C C	CTTCCTTC others(25): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02280.hp1 NA18957.hp2 HG02280.hp1 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0139 a0001c0002t0001g0357 a0001c0001t0001g0139 a0001c0002t0001g0357	2	380	0.0053	32	c.109 others(51): Show c.1098+1028_1098+1029insAGAAAGAAGGAAGGAAGGAAGGAAGG AAGGAA	FYB2	ENSG00000187889.13	transcript	ENST00000343433.7	protein_coding	6/19			chr1	TogoVar
FYB2_chr1_56713789_56824404	56757687	C C	CTTCCTTC others(25): Show CTTCCTTCTTTTTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0103 a0001c0001t0002g0103	1	380	0.0026	32	c.109 others(51): Show c.1098+1028_1098+1029insAGAAAGAAAGAAAGAAAGAAAAAAAG AAGGAA	FYB2	ENSG00000187889.13	transcript	ENST00000343433.7	protein_coding	6/19			chr1	TogoVar
FYTTD1_chr3_197744883_197792596	197792577	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00597.hp2 HG01071.hp2 others(12): Show HG00323.hp1 HG00597.hp2 HG01071.hp2 HG01168.hp1 HG01975.hp1 HG02080.hp1 HG02109.hp1 HG02698.hp2 HG02738.hp1 HG03453.hp2 HG03704.hp2 NA18954.hp1 NA18966.hp1 NA18984.hp1 NA19003.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 a0001c0001t0013 a0002c0002t0002	a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0152 others(12): Show a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0152 a0001c0001t0001g0175 a0001c0001t0001g0192 a0001c0001t0001g0201 a0001c0001t0001g0209 a0001c0001t0001g0213 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0004g0134 a0001c0001t0010g0187 a0001c0001t0013g0229 a0002c0002t0002g0047 a0002c0002t0002g0048	15	256	0.0586	32	c.10 others(45): Show c.10668_*10669insTATATATATATATATATATATATATATATATA	FYTTD1	ENSG00000122068.13	transcript	ENST00000241502.9	protein_coding		4982		chr3	TogoVar
G3BP2_chr4_75637786_75678411	75643295	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp2 HG01496.hp2 HG02074.hp1 others(9): Show HG00099.hp2 HG01496.hp2 HG02074.hp1 HG02280.hp2 HG02559.hp2 HG02647.hp2 HG02723.hp1 HG03098.hp2 HG03516.hp2 HG03579.hp2 HG03710.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0014 a0001c0001t0031 others(1): Show a0001c0001t0010 a0001c0001t0014 a0001c0001t0031 a0001c0001t0032	a0001c0001t0010g0049 a0001c0001t0010g0086 a0001c0001t0010g0097 others(9): Show a0001c0001t0010g0049 a0001c0001t0010g0086 a0001c0001t0010g0097 a0001c0001t0010g0102 a0001c0001t0010g0233 a0001c0001t0014g0054 a0001c0001t0014g0072 a0001c0001t0014g0078 a0001c0001t0014g0081 a0001c0001t0031g0036 a0001c0001t0031g0037 a0001c0001t0032g0064	12	330	0.0364	32	c.21 others(43): Show c.2134_*2135insTATATATATATATATATATATATATATATATA	G3BP2	ENSG00000138757.15	transcript	ENST00000359707.9	protein_coding	12/12	2134		chr4	TogoVar
GAB1_chr4_143331876_143479565	143373856	T T	TCTCTCTC others(25): Show TCTCTCTCTCTCTGTAAACAAATAAATAAATAA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0077 a0001c0001t0004g0077	1	194	0.0052	32	c.72+ others(49): Show c.72+36596_72+36597insCTCTCTCTCTCTGTAAACAAATAAATAA ATAA	GAB1	ENSG00000109458.10	transcript	ENST00000262994.9	protein_coding	1/9			chr4	TogoVar
GAB1_chr4_143331876_143479565	143373856	T T	TCTCTCTC others(25): Show TCTCTCTCTCTCTGTAAATAAATAAATAAATAA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02976.hp2 HG01496.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0001 a0001c0001t0004g0001	2	194	0.0103	32	c.72+ others(49): Show c.72+36596_72+36597insCTCTCTCTCTCTGTAAATAAATAAATAA ATAA	GAB1	ENSG00000109458.10	transcript	ENST00000262994.9	protein_coding	1/9			chr4	TogoVar
GAB1_chr4_143331876_143479565	143373864	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 NA21309.hp1 HG00323.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0015 a0001c0001t0003 a0001c0001t0015	a0001c0001t0003g0044 a0001c0001t0015g0043 a0001c0001t0003g0044 a0001c0001t0015g0043	2	194	0.0103	32	c.72+ others(49): Show c.72+36607_72+36608insTATATATATATATATATATATATATATA TATA	GAB1	ENSG00000109458.10	transcript	ENST00000262994.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr4	TogoVar
GAB1_chr4_143331876_143479565	143373868	A A	AATAAATA others(25): Show AATAAATAAATAAATAAATAAATAAATATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0168 a0001c0001t0002g0168	1	194	0.0052	32	c.72+ others(49): Show c.72+36611_72+36612insAATAAATAAATAAATAAATAAATATATA TATA	GAB1	ENSG00000109458.10	transcript	ENST00000262994.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr4	TogoVar
GAB1_chr4_143331876_143479565	143373868	A A	AATAAATA others(25): Show AATAAATAAATAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0135 a0001c0001t0031g0135	1	194	0.0052	32	c.72+ others(49): Show c.72+36611_72+36612insAATAAATAAATATATATATATATATATA TATA	GAB1	ENSG00000109458.10	transcript	ENST00000262994.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr4	TogoVar
GAB1_chr4_143331876_143479565	143373868	A A	AATAAATA others(25): Show AATAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0076 a0001c0001t0002g0076	1	194	0.0052	32	c.72+ others(49): Show c.72+36611_72+36612insAATATATATATATATATATATATATATA TATA	GAB1	ENSG00000109458.10	transcript	ENST00000262994.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr4	TogoVar
GAB1_chr4_143331876_143479565	143373868	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	194	0.0052	32	c.72+ others(49): Show c.72+36626_72+36627insATATATATATATATATATATATATATAT ATAT	GAB1	ENSG00000109458.10	transcript	ENST00000262994.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr4	TogoVar
GAB2_chr11_78210293_78422820	78267857	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03453.hp2 HG03041.hp1 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0009 a0001c0004t0006 a0001c0002t0009 a0001c0004t0006	a0001c0002t0009g0135 a0001c0004t0006g0108 a0001c0002t0009g0135 a0001c0004t0006g0108	2	288	0.0069	32	c.376 others(51): Show c.376+12743_376+12744insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	GAB2	ENSG00000033327.13	transcript	ENST00000361507.5	protein_coding	2/9			chr11	TogoVar
GAB2_chr11_78210293_78422820	78307614	G G	GAGAGAGA others(25): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0134 a0001c0003t0004g0134	1	288	0.0035	32	c.76- others(49): Show c.76-26714_76-26713insGTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCT	GAB2	ENSG00000033327.13	transcript	ENST00000361507.5	protein_coding	1/9			chr11	TogoVar
GAB2_chr11_78210293_78422820	78309971	T T	TGTGTGTG others(25): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGC	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0118 a0001c0001t0015g0118	1	288	0.0035	32	c.76- others(49): Show c.76-29071_76-29070insGCGCACACACACACACACACACACACAC ACAC	GAB2	ENSG00000033327.13	transcript	ENST00000361507.5	protein_coding	1/9			chr11	TogoVar
GAB2_chr11_78210293_78422820	78398021	T T	TACACACA others(25): Show TACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03139.hp2 NA19240.hp2 HG03139.hp2 NA19240.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0132 a0001c0003t0004g0133 a0001c0003t0004g0132 a0001c0003t0004g0133	2	288	0.0069	32	c.75+ others(49): Show c.75+19624_75+19625insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT	GAB2	ENSG00000033327.13	transcript	ENST00000361507.5	protein_coding	1/9			chr11	TogoVar
GAB2_chr11_78210293_78422820	78398041	C C	CACACACA others(25): Show CACACACACACACACACACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02895.hp1 NA20129.hp1 HG02647.hp2 HG02895.hp1 NA20129.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0013 a0001c0005t0040 a0001c0005t0013 a0001c0005t0040	a0001c0005t0013g0127 a0001c0005t0013g0130 a0001c0005t0040g0129 a0001c0005t0013g0127 a0001c0005t0013g0130 a0001c0005t0040g0129	3	288	0.0104	32	c.75+ others(49): Show c.75+19604_75+19605insATGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT	GAB2	ENSG00000033327.13	transcript	ENST00000361507.5	protein_coding	1/9			chr11	TogoVar
GABBR2_chr9_98283109_98713935	98393157	C C	CCCATCCA others(25): Show CCCATCCATCCATCCATCCATCCATCCATCCAT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02895.hp1 HG02976.hp2 others(3): Show HG02647.hp1 HG02895.hp1 HG02976.hp2 NA19010.hp1 NA20129.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0007 a0002c0004 others(2): Show a0001c0002 a0001c0007 a0002c0004 a0002c0014 a0002c0027	a0001c0002t0018 a0001c0007t0016 a0001c0007t0033 others(3): Show a0001c0002t0018 a0001c0007t0016 a0001c0007t0033 a0002c0004t0036 a0002c0014t0002 a0002c0027t0002	a0001c0002t0018g0159 a0001c0007t0016g0018 a0001c0007t0033g0005 others(3): Show a0001c0002t0018g0159 a0001c0007t0016g0018 a0001c0007t0033g0005 a0002c0004t0036g0046 a0002c0014t0002g0050 a0002c0027t0002g0062	6	164	0.0366	32	c.137 others(51): Show c.1378+1017_1378+1018insATGGATGGATGGATGGATGGATGGAT GGATGG	GABBR2	ENSG00000136928.7	transcript	ENST00000259455.4	protein_coding	9/18			chr9	TogoVar
GABBR2_chr9_98283109_98713935	98447063	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18995.hp2 NA18984.hp1 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0004 a0001c0001t0005g0143 a0001c0001t0003g0004 a0001c0001t0005g0143	2	164	0.0122	32	c.123 others(51): Show c.1236+6917_1236+6918insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	GABBR2	ENSG00000136928.7	transcript	ENST00000259455.4	protein_coding	7/18			chr9	TogoVar
GABBR2_chr9_98283109_98713935	98648116	T T	TGTGTGTG others(25): Show TGTGTGTGTGTGTGTGTGTGTATAGATAGATAG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0006 a0002c0004t0006	a0002c0004t0006g0112 a0002c0004t0006g0112	1	164	0.0061	32	c.321 others(51): Show c.321+60300_321+60301insCTATCTATCTATACACACACACACAC ACACAC	GABBR2	ENSG00000136928.7	transcript	ENST00000259455.4	protein_coding	1/18			chr9	TogoVar
GABBR2_chr9_98283109_98713935	98688394	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02258.hp1 HG02647.hp1 HG02109.hp2 HG02258.hp1 HG02647.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0016 a0002c0027 a0001c0001 a0002c0016 a0002c0027	a0001c0001t0035 a0002c0016t0027 a0002c0027t0002 a0001c0001t0035 a0002c0016t0027 a0002c0027t0002	a0001c0001t0035g0047 a0002c0016t0027g0048 a0002c0027t0002g0062 a0001c0001t0035g0047 a0002c0016t0027g0048 a0002c0027t0002g0062	3	164	0.0183	32	c.321 others(51): Show c.321+20022_321+20023insATATATATATATATATATATATATAT ATATAT	GABBR2	ENSG00000136928.7	transcript	ENST00000259455.4	protein_coding	1/18			chr9	TogoVar
GABRA2_chr4_46238548_46395128	46264986	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG03516.hp2 HG02040.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0172 a0001c0001t0023 a0001c0001t0172	a0001c0001t0023g0107 a0001c0001t0172g0208 a0001c0001t0023g0107 a0001c0001t0172g0208	2	258	0.0078	32	c.857 others(49): Show c.857-2859_857-2858insATATATATATATATATATATATATATAT ATAT	GABRA2	ENSG00000151834.16	transcript	ENST00000381620.9	protein_coding	8/9			chr4	TogoVar
GABRA3_chrX_152161234_152456315	152275398	G G	GTAAAATA others(25): Show GTAAAATATATATTTACATATTTATTTTAAATA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02630.hp2 HG02922.hp2 others(1): Show HG02257.hp1 HG02630.hp2 HG02922.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0013 a0001c0001t0002 a0001c0001t0011 a0001c0001t0013	a0001c0001t0002g0086 a0001c0001t0011g0203 a0001c0001t0011g0204 others(1): Show a0001c0001t0002g0086 a0001c0001t0011g0203 a0001c0001t0011g0204 a0001c0001t0013g0180	4	204	0.0196	32	c.330 others(49): Show c.330+9238_330+9269dupTATTTAAAATAAATATGTAAATATATAT TTTA	GABRA3	ENSG00000011677.13	transcript	ENST00000370314.9	protein_coding	4/9			chrX	TogoVar
GABRA4_chr4_46913900_46998581	46977330	A A	AAGGGAGG others(25): Show AAGGGAGGGAGGAAGGGAGGGAGGAAGGGAGGG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00558.hp1 HG02258.hp1 others(22): Show HG00280.hp2 HG00558.hp1 HG02258.hp1 HG03927.hp2 HG04204.hp2 NA18941.hp1 NA18942.hp2 NA18948.hp1 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18956.hp1 NA18962.hp1 NA18968.hp2 NA18970.hp1 NA18982.hp2 NA18988.hp2 NA18992.hp1 NA19000.hp1 NA19002.hp2 NA19005.hp2 NA19057.hp1 NA19058.hp2 NA19064.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0012 a0001c0001t0013 a0001c0001t0016 a0001c0001t0045 a0001c0001t0056 a0001c0007t0013	a0001c0001t0001g0290 a0001c0001t0001g0296 a0001c0001t0001g0299 others(21): Show a0001c0001t0001g0290 a0001c0001t0001g0296 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0003g0289 a0001c0001t0003g0292 a0001c0001t0003g0303 a0001c0001t0008g0297 a0001c0001t0008g0302 a0001c0001t0012g0022 a0001c0001t0012g0295 a0001c0001t0012g0301 a0001c0001t0013g0154 a0001c0001t0013g0307 a0001c0001t0013g0315 a0001c0001t0013g0316 a0001c0001t0013g0317 a0001c0001t0013g0319 a0001c0001t0016g0306 a0001c0001t0045g0291 a0001c0001t0056g0298 a0001c0007t0013g0294	25	370	0.0676	32	c.494 others(45): Show c.494+79_494+80insCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCT	GABRA4	ENSG00000109158.11	transcript	ENST00000264318.4	protein_coding	4/8			chr4	TogoVar
GABRB1_chr4_47026567_47431447	47125559	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	158	0.0063	32	c.241 others(51): Show c.241-35676_241-35675insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	GABRB1	ENSG00000163288.14	transcript	ENST00000295454.8	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
GABRB3_chr15_26538552_26778066	26554039	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00621.hp2 others(5): Show HG00280.hp2 HG00323.hp2 HG00621.hp2 HG01109.hp2 HG01975.hp1 HG03492.hp2 NA18971.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0026 a0001c0001t0002 a0001c0001t0026	a0001c0001t0002g0032 a0001c0001t0002g0094 a0001c0001t0002g0118 others(5): Show a0001c0001t0002g0032 a0001c0001t0002g0094 a0001c0001t0002g0118 a0001c0001t0002g0123 a0001c0001t0002g0141 a0001c0001t0002g0146 a0001c0001t0002g0170 a0001c0001t0026g0071	8	204	0.0392	32	c.108 others(51): Show c.1081-5906_1081-5905insAATATATATATATATATATATATATA TATATA	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	8/8			chr15	TogoVar
GABRB3_chr15_26538552_26778066	26554176	G G	GTATATAT others(25): Show GTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	204	0.0049	32	c.108 others(51): Show c.1081-6043_1081-6042insTATATATATATATATATATATATATA TATATA	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	8/8			chr15	TogoVar
GABRG1_chr4_46030769_46129054	46118029	C C	CATATATA others(25): Show CATATATACATATGTATACATGTGTATCTATAT	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	308	0.0033	32	c.104 others(49): Show c.104+5780_104+5781insATATAGATACACATGTATACATATGTAT ATAT	GABRG1	ENSG00000163285.8	transcript	ENST00000295452.5	protein_coding	1/8			chr4	TogoVar
GABRG1_chr4_46030769_46129054	46118132	G G	GTGTATAT others(25): Show GTGTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03486.hp2 HG01891.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0007 a0001c0001t0001 a0001c0002t0007	a0001c0001t0001g0301 a0001c0002t0007g0300 a0001c0001t0001g0301 a0001c0002t0007g0300	2	308	0.0065	32	c.104 others(49): Show c.104+5677_104+5678insTATATATATATATATATATATATATATA TACA	GABRG1	ENSG00000163285.8	transcript	ENST00000295452.5	protein_coding	1/8			chr4	TogoVar
GABRG1_chr4_46030769_46129054	46128321	G G	GATATATA others(25): Show GATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0018 a0001c0002t0004g0018	1	308	0.0033	32	c.-44 others(43): Show c.-4409_-4408insATATATATATATATATATATATATATATATAT	GABRG1	ENSG00000163285.8	transcript	ENST00000295452.5	protein_coding		4268		chr4	TogoVar
GABRG3_chr15_26966181_27546984	27265882	G G	GTTTTTTT others(25): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG03225.hp2 HG01496.hp2 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0018 a0001c0002 a0001c0018	a0001c0002t0016 a0001c0018t0004 a0001c0002t0016 a0001c0018t0004	a0001c0002t0016g0012 a0001c0018t0004g0053 a0001c0002t0016g0012 a0001c0018t0004g0053	2	92	0.0217	32	c.271 others(51): Show c.271-60912_271-60911insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GABRG3_chr15_26966181_27546984	27308053	T T	TAAACATA others(25): Show TAAACATATATAAACATATATGTTCATACATCC	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG04115.hp2 HG03492.hp1 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0015 a0001c0001t0007 a0001c0001t0015	a0001c0001t0007g0010 a0001c0001t0015g0013 a0001c0001t0007g0010 a0001c0001t0015g0013	2	92	0.0217	32	c.271 others(51): Show c.271-18733_271-18732insCATACATCCAAACATATATAAACATA TATGTT	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GABRG3_chr15_26966181_27546984	27308223	C C	CATGTTTA others(25): Show CATGTTTATATATCCAAACATATATAAACATAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00738.hp2 others(4): Show HG00408.hp1 HG00408.hp2 HG00738.hp2 HG03195.hp2 HG03704.hp1 HG03834.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0006 a0001c0001 a0001c0003 a0001c0006	a0001c0001t0001 a0001c0001t0012 a0001c0003t0012 others(2): Show a0001c0001t0001 a0001c0001t0012 a0001c0003t0012 a0001c0003t0014 a0001c0006t0003	a0001c0001t0001g0033 a0001c0001t0001g0043 a0001c0001t0001g0087 others(4): Show a0001c0001t0001g0033 a0001c0001t0001g0043 a0001c0001t0001g0087 a0001c0001t0012g0025 a0001c0003t0012g0023 a0001c0003t0014g0011 a0001c0006t0003g0069	7	92	0.0761	32	c.271 others(51): Show c.271-18555_271-18554insTATGTTTATATATCCAAACATATATA AACATA	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GAD1_chr2_170811887_170866151	170828105	G G	GTCCTCAC others(25): Show GTCCTCACCCTCCTCCCTCTGCTGTCCTCACCC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00609.hp2 HG01123.hp2 others(45): Show HG00438.hp2 HG00609.hp2 HG01123.hp2 HG02074.hp2 HG02083.hp1 HG02135.hp1 HG02155.hp2 HG02300.hp1 HG02630.hp1 HG02818.hp1 HG03704.hp2 HG03831.hp2 HG04199.hp2 HG06807.hp2 NA18612.hp1 NA18943.hp1 NA18945.hp1 NA18948.hp1 NA18949.hp1 NA18952.hp2 NA18955.hp2 NA18962.hp2 NA18964.hp2 NA18968.hp2 NA18972.hp2 NA18974.hp1 NA18975.hp1 NA18979.hp1 NA18983.hp1 NA18990.hp1 NA19000.hp1 NA19003.hp2 NA19005.hp2 NA19010.hp1 NA19054.hp2 NA19055.hp1 NA19060.hp2 NA19062.hp1 NA19065.hp1 NA19070.hp2 NA19072.hp2 NA19074.hp2 NA19079.hp1 NA19084.hp1 NA19086.hp1 NA19088.hp2 NA19090.hp1 NA20300.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0008 a0001c0001 a0001c0002 a0004c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0018 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0018 a0001c0002t0001 a0001c0002t0002 a0004c0008t0001	a0001c0001t0001g0184 a0001c0001t0003g0296 a0001c0001t0003g0303 others(43): Show a0001c0001t0001g0184 a0001c0001t0003g0296 a0001c0001t0003g0303 a0001c0001t0003g0330 a0001c0001t0018g0278 a0001c0002t0001g0004 a0001c0002t0001g0013 a0001c0002t0001g0026 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0055 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0072 a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0106 a0001c0002t0001g0138 a0001c0002t0001g0185 a0001c0002t0001g0273 a0001c0002t0001g0274 a0001c0002t0001g0275 a0001c0002t0001g0276 a0001c0002t0001g0343 a0001c0002t0002g0025 a0001c0002t0002g0036 a0001c0002t0002g0050 a0001c0002t0002g0051 a0001c0002t0002g0052 a0001c0002t0002g0267 a0001c0002t0002g0268 a0001c0002t0002g0269 a0004c0008t0001g0027	48	412	0.1165	32	c.146 others(49): Show c.146-1365_146-1364insACCCTCCTCCCTCTGCTGTCCTCACCCT CCTC	GAD1	ENSG00000128683.14	transcript	ENST00000358196.8	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
GADD45B_chr19_2471127_2483257	2482825	G G	GCACACAC others(25): Show GCACACACACACATGCACACACACACGCATGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG02970.hp1 HG03453.hp2 HG01891.hp1 HG02970.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0001 a0001c0001t0004g0001	3	460	0.0065	32	c.52 others(43): Show c.5224_*5225insCACACACACACATGCACACACACACGCATGCA	GADD45B	ENSG00000099860.9	transcript	ENST00000215631.9	protein_coding		4569		chr19	TogoVar
GADL1_chr3_30721197_30899661	30768570	G G	GGGGTGGG others(25): Show GGGGTGGGGGGAGGGGGGGGGGGGGGGGGGGGA	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0233 a0001c0001t0002g0233	1	282	0.0036	32	c.139 others(51): Show c.1392+9608_1392+9609insTCCCCCCCCCCCCCCCCCCCCTCCCC CCACCC	GADL1	ENSG00000144644.15	transcript	ENST00000282538.10	protein_coding	14/14			chr3	TogoVar
GADL1_chr3_30721197_30899661	30805734	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0212 a0001c0001t0007g0212	1	282	0.0036	32	c.105 others(51): Show c.1051-4647_1051-4646insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	GADL1	ENSG00000144644.15	transcript	ENST00000282538.10	protein_coding	11/14			chr3	TogoVar
GADL1_chr3_30721197_30899661	30867439	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0244 a0001c0001t0006g0244	1	282	0.0036	32	c.38- others(47): Show c.38-5675_38-5674insGTGTATATATATATATATATATATATATAT AT	GADL1	ENSG00000144644.15	transcript	ENST00000282538.10	protein_coding	1/14			chr3	TogoVar
GADL1_chr3_30721197_30899661	30867439	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02132.hp2 NA18949.hp2 HG02132.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0180 a0001c0001t0001g0080 a0001c0001t0001g0180	2	282	0.0071	32	c.38- others(47): Show c.38-5675_38-5674insGTATATATATATATATATATATATATATAT AT	GADL1	ENSG00000144644.15	transcript	ENST00000282538.10	protein_coding	1/14			chr3	TogoVar

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