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.

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
GRM8_chr7_126433598_127257941	126453070	AACACACA others(21): Show AACACACACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0108 a0001c0001t0008g0108	1	108	0.0093	-28	c.243 others(47): Show c.2431-6726_2431-6699delGTGTGTGTGTGTGTGTGTGTGTGTGT GT	GRM8	ENSG00000179603.19	transcript	ENST00000339582.7	protein_coding	9/10			chr7	TogoVar
GRM8_chr7_126433598_127257941	126532764	GATATATA others(21): Show GATATATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp2 HG00544.hp1 others(27): Show HG00323.hp2 HG00408.hp2 HG00544.hp1 HG00639.hp1 HG01081.hp1 HG01257.hp1 HG01361.hp1 HG01433.hp1 HG01943.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02970.hp2 HG02976.hp2 HG03195.hp2 HG03491.hp2 HG03654.hp1 HG03834.hp2 HG04184.hp1 HG04184.hp2 NA18522.hp2 NA19068.hp2 NA19074.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0002 a0001c0001 a0001c0005 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0005t0001 a0002c0002t0001	a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0017 others(27): Show a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0036 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0062 a0001c0001t0002g0006 a0001c0001t0002g0019 a0001c0001t0002g0021 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0029 a0001c0001t0002g0038 a0001c0001t0002g0059 a0001c0001t0002g0064 a0001c0001t0002g0067 a0001c0001t0002g0070 a0001c0001t0002g0074 a0001c0001t0002g0089 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0008g0108 a0001c0005t0001g0063 a0002c0002t0001g0031	30	108	0.2778	-28	c.243 others(45): Show c.2430+160_2430+187delATATATATATATATATATATATATATAT	GRM8	ENSG00000179603.19	transcript	ENST00000339582.7	protein_coding	9/10			chr7	TogoVar
GRM8_chr7_126433598_127257941	126559826	GAATAGTG others(21): Show GAATAGTGAGTTTACTGCCTTTGAAACTC	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02486.hp1 HG02965.hp1 others(2): Show HG00639.hp2 HG02486.hp1 HG02965.hp1 HG03139.hp1 NA18906.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0008 a0001c0001 a0005c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0005c0008t0001	a0001c0001t0001g0007 a0001c0001t0002g0013 a0001c0001t0002g0014 others(2): Show a0001c0001t0001g0007 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0005g0086 a0005c0008t0001g0048	5	108	0.0463	-28	c.149 others(49): Show c.1495-25967_1495-25940delGAGTTTCAAAGGCAGTAAACTCAC TATT	GRM8	ENSG00000179603.19	transcript	ENST00000339582.7	protein_coding	8/10			chr7	TogoVar
GRM8_chr7_126433598_127257941	127014987	GGAAGAAG others(21): Show GGAAGAAGAAGAAGAAAGAAGAAGAAGAA	G G	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0002 a0006c0009t0002	a0006c0009t0002g0010 a0006c0009t0002g0010	1	108	0.0093	-28	c.727 others(47): Show c.727+91481_727+91508delTTCTTCTTCTTCTTTCTTCTTCTTCT TC	GRM8	ENSG00000179603.19	transcript	ENST00000339582.7	protein_coding	3/10			chr7	TogoVar
GRTP1_chr13_113319163_113369130	113346066	CTCTGCGG others(21): Show CTCTGCGGCTGAGCAGACCTGGGAAGACA	C C	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01167.hp2 HG01169.hp1 others(12): Show HG00597.hp1 HG01167.hp2 HG01169.hp1 HG01243.hp2 HG01261.hp1 HG01346.hp1 HG01978.hp2 HG02004.hp1 HG02071.hp1 HG04115.hp2 NA18939.hp2 NA18950.hp1 NA18966.hp2 NA19068.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0078 others(12): Show a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0078 a0001c0001t0001g0108 a0001c0001t0001g0179 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0220 a0001c0001t0001g0233 a0001c0001t0001g0248 a0001c0001t0001g0254 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0002g0280 a0001c0001t0005g0030	15	288	0.0521	-28	c.466 others(45): Show c.466-1135_466-1108delTGTCTTCCCAGGTCTGCTCAGCCGCAGA	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113346265	CGGGAGGA others(21): Show CGGGAGGACCTCTGTGGCTGAGCGGATCT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01081.hp2 HG01515.hp1 HG00642.hp2 HG01081.hp2 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0187 a0001c0001t0001g0201 a0001c0001t0001g0139 a0001c0001t0001g0187 a0001c0001t0001g0201	3	288	0.0104	-28	c.466 others(45): Show c.466-1334_466-1307delAGATCCGCTCAGCCACAGAGGTCCTCCC	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113346283	TGAGCGGA others(21): Show TGAGCGGATCTGGGAGGACCTCTGTGGCA	T T	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03209.hp2 NA20905.hp2 HG02647.hp1 HG03209.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0169 a0001c0001t0001g0229 a0001c0001t0002g0009 a0001c0001t0001g0169 a0001c0001t0001g0229 a0001c0001t0002g0009	3	288	0.0104	-28	c.466 others(45): Show c.466-1352_466-1325delTGCCACAGAGGTCCTCCCAGATCCGCTC	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113346392	CTCTGTGG others(21): Show CTCTGTGGCTGAGCAGACCTGGGAAGACA	C C	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0236 a0001c0001t0001g0236	1	288	0.0035	-28	c.466 others(45): Show c.466-1461_466-1434delTGTCTTCCCAGGTCTGCTCAGCCACAGA	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113346401	TGAGCAGA others(21): Show TGAGCAGACCTGGGAAGACATCTGTGGCC	T T	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp2 HG04115.hp1 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0248 a0001c0001t0001g0195 a0001c0001t0001g0248	2	288	0.0069	-28	c.466 others(45): Show c.466-1470_466-1443delGGCCACAGATGTCTTCCCAGGTCTGCTC	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113346649	CCTGGGAG others(21): Show CCTGGGAGGACCTCTGTGGCTGAGCGGAT	C C	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG02647.hp2 others(1): Show HG01167.hp2 HG01169.hp1 HG02647.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0179 a0001c0001t0001g0219 others(1): Show a0001c0001t0001g0159 a0001c0001t0001g0179 a0001c0001t0001g0219 a0001c0001t0001g0279	4	288	0.0139	-28	c.466 others(45): Show c.466-1718_466-1691delATCCGCTCAGCCACAGAGGTCCTCCCAG	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113346669	TGAGCGGA others(21): Show TGAGCGGATCTGGGAGGACCTCTGTGGCA	T T	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	288	0.0035	-28	c.466 others(45): Show c.466-1738_466-1711delTGCCACAGAGGTCCTCCCAGATCCGCTC	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113346917	CCTGGGAG others(21): Show CCTGGGAGGACCTCTGTGGCTGAGCGGAT	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02486.hp1 HG02602.hp2 others(7): Show HG00741.hp1 HG02486.hp1 HG02602.hp2 HG02647.hp1 HG02886.hp1 HG04115.hp1 HG04115.hp2 NA18906.hp2 NA18977.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0001 a0001c0001t0003 a0001c0001t0006	a0001c0001t0001g0141 a0001c0001t0001g0160 a0001c0001t0001g0169 others(7): Show a0001c0001t0001g0141 a0001c0001t0001g0160 a0001c0001t0001g0169 a0001c0001t0001g0195 a0001c0001t0001g0230 a0001c0001t0001g0237 a0001c0001t0001g0245 a0001c0001t0001g0248 a0001c0001t0003g0242 a0001c0001t0006g0252	10	288	0.0347	-28	c.466 others(45): Show c.466-1986_466-1959delATCCGCTCAGCCACAGAGGTCCTCCCAG	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113347035	CCTGGGAG others(21): Show CCTGGGAGGACCTCTGTGGCTGAGCGGAT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01074.hp1 NA18945.hp1 HG00639.hp1 HG01074.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0206 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0206	3	288	0.0104	-28	c.466 others(45): Show c.466-2104_466-2077delATCCGCTCAGCCACAGAGGTCCTCCCAG	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113347275	CGGGAGGA others(21): Show CGGGAGGACCTCTGTGGCTGAGCGGATCT	C C	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01257.hp2 HG01074.hp1 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0017 a0001c0001t0001g0020	2	288	0.0069	-28	c.466 others(45): Show c.466-2344_466-2317delAGATCCGCTCAGCCACAGAGGTCCTCCC	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113347503	AGAGCGGA others(21): Show AGAGCGGACCCAGGAGCACCTCTGTGGCT	A A	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	288	0.0035	-28	c.466 others(45): Show c.466-2572_466-2545delAGCCACAGAGGTGCTCCTGGGTCCGCTC	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113347797	TGAGCGGA others(21): Show TGAGCGGATCTGGGAGGACCTCTGTGGCA	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	288	0.0035	-28	c.466 others(45): Show c.466-2866_466-2839delTGCCACAGAGGTCCTCCCAGATCCGCTC	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GSDME_chr7_24693355_24762464	24744984	CGTGTGTG others(21): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0007 a0002c0003t0007	a0002c0003t0007g0357 a0002c0003t0007g0357	1	410	0.0024	-28	c.212 others(43): Show c.212-258_212-231delACACACACACACACACACACACACACAC	GSDME	ENSG00000105928.16	transcript	ENST00000645220.1	protein_coding	2/9			chr7	TogoVar
GSG1L_chr16_27782528_28068714	27865550	TATATATA others(21): Show TATATATATATATATATATATATACACAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01070.hp2 HG01071.hp1 others(26): Show HG00099.hp2 HG01070.hp2 HG01071.hp1 HG01081.hp2 HG01106.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01243.hp2 HG01256.hp1 HG02109.hp1 HG02145.hp1 HG02257.hp2 HG02615.hp1 HG02630.hp1 HG02683.hp2 HG02895.hp1 HG02965.hp1 HG02976.hp1 HG03098.hp2 HG03209.hp1 HG03492.hp1 HG03669.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 NA18995.hp2 NA19030.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0013 a0001c0001t0041 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0012 a0001c0002t0019 a0001c0002t0021 a0001c0002t0046 a0001c0005t0023 a0002c0003t0001	a0001c0001t0001g0004 a0001c0001t0001g0080 a0001c0001t0002g0117 others(26): Show a0001c0001t0001g0004 a0001c0001t0001g0080 a0001c0001t0002g0117 a0001c0001t0002g0208 a0001c0001t0006g0106 a0001c0001t0013g0126 a0001c0001t0041g0165 a0001c0002t0001g0015 a0001c0002t0001g0059 a0001c0002t0001g0203 a0001c0002t0001g0225 a0001c0002t0002g0098 a0001c0002t0002g0137 a0001c0002t0002g0189 a0001c0002t0004g0172 a0001c0002t0005g0177 a0001c0002t0006g0071 a0001c0002t0006g0176 a0001c0002t0007g0072 a0001c0002t0007g0073 a0001c0002t0007g0135 a0001c0002t0007g0136 a0001c0002t0012g0173 a0001c0002t0019g0148 a0001c0002t0021g0060 a0001c0002t0021g0124 a0001c0002t0046g0105 a0001c0005t0023g0011 a0002c0003t0001g0239	29	240	0.1208	-28	c.550 others(47): Show c.550+18908_550+18935delGTGTGTATATATATATATATATATAT AT	GSG1L	ENSG00000169181.13	transcript	ENST00000447459.7	protein_coding	3/6			chr16	TogoVar
GSG1L_chr16_27782528_28068714	27888482	CCTTTCTT others(21): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02145.hp2 HG00558.hp1 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0007 a0001c0002t0001g0013 a0001c0001t0001g0007 a0001c0002t0001g0013	2	240	0.0083	-28	c.398 others(45): Show c.398-3872_398-3845delAAAGAAAGAAAGAAAGAAAGAAAGAAAG	GSG1L	ENSG00000169181.13	transcript	ENST00000447459.7	protein_coding	2/6			chr16	TogoVar
GSG1L_chr16_27782528_28068714	27946571	AAGAAAGA others(21): Show AAGAAAGAAAGAGAGAGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0025 a0001c0002t0025	a0001c0002t0025g0002 a0001c0002t0025g0002	1	240	0.0042	-28	c.397 others(47): Show c.397+16557_397+16584delCTCTCTCTCTCTCTCTCTCTTTCTTT CT	GSG1L	ENSG00000169181.13	transcript	ENST00000447459.7	protein_coding	2/6			chr16	TogoVar
GSG1L_chr16_27782528_28068714	27947384	AAAAGAAA others(21): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	240	0.0042	-28	c.397 others(47): Show c.397+15744_397+15771delCTTTCTTTCTTTCTTTCTTTCTTTCT TT	GSG1L	ENSG00000169181.13	transcript	ENST00000447459.7	protein_coding	2/6			chr16	TogoVar
GSG1L_chr16_27782528_28068714	27947540	GGAAAGAA others(21): Show GGAAAGAAAGAAAGAAAGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01884.hp2 HG02922.hp2 HG01256.hp1 HG01884.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0013 a0001c0001t0002 a0001c0001t0005 a0001c0001t0013	a0001c0001t0002g0174 a0001c0001t0005g0029 a0001c0001t0013g0126 a0001c0001t0002g0174 a0001c0001t0005g0029 a0001c0001t0013g0126	3	240	0.0125	-28	c.397 others(47): Show c.397+15588_397+15615delTTTCTTTCTTTCTTTCTTTCTTTCTT TC	GSG1L	ENSG00000169181.13	transcript	ENST00000447459.7	protein_coding	2/6			chr16	TogoVar
GSK3B_chr3_119816321_120099447	120026526	CACACACA others(21): Show CACACACACACACACACACACACACACAA	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0056 a0001c0002t0013g0056	1	300	0.0033	-28	c.89- others(45): Show c.89-24315_89-24288delTTGTGTGTGTGTGTGTGTGTGTGTGTGT	GSK3B	ENSG00000082701.17	transcript	ENST00000264235.13	protein_coding	1/10			chr3	TogoVar
GSR_chr8_30673066_30732846	30684928	CATTTATT others(21): Show CATTTATTTATTTATTTATTTATTTATTT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02145.hp2 HG02258.hp2 others(8): Show HG01243.hp1 HG02145.hp2 HG02258.hp2 HG02280.hp2 HG02559.hp1 HG03486.hp2 HG03579.hp1 NA18522.hp1 NA19030.hp2 NA19240.hp2 NA20300.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0002 a0001c0001t0007 a0001c0001t0026 others(2): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0026 a0004c0005t0043 a0004c0005t0044	a0001c0001t0002g0224 a0001c0001t0007g0209 a0001c0001t0007g0217 others(8): Show a0001c0001t0002g0224 a0001c0001t0007g0209 a0001c0001t0007g0217 a0001c0001t0007g0219 a0001c0001t0007g0220 a0001c0001t0007g0221 a0001c0001t0007g0222 a0001c0001t0007g0225 a0001c0001t0026g0167 a0004c0005t0043g0003 a0004c0005t0044g0004	11	348	0.0316	-28	c.104 others(45): Show c.1042-757_1042-730delAAATAAATAAATAAATAAATAAATAAAT	GSR	ENSG00000104687.14	transcript	ENST00000221130.11	protein_coding	9/12			chr8	TogoVar
GSTA1_chr6_52786371_52808816	52796469	ATATATAT others(21): Show ATATATATATATATATATATATGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00323.hp1 others(183): Show HG00099.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00741.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01433.hp1 HG01496.hp1 HG01517.hp2 HG01928.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02004.hp1 HG02027.hp1 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02132.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp2 HG02273.hp2 HG02300.hp2 HG02451.hp1 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02735.hp2 HG02896.hp2 HG02897.hp1 HG03017.hp2 HG03225.hp2 HG03239.hp1 HG03492.hp2 HG03540.hp1 HG03669.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03942.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp2 NA18948.hp1 NA18952.hp1 NA18952.hp2 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18970.hp1 NA18971.hp1 NA18972.hp2 NA18973.hp2 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18991.hp2 NA18994.hp1 NA18994.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp2 NA19000.hp1 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19006.hp2 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19055.hp1 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp1 NA19070.hp1 NA19074.hp2 NA19077.hp1 NA19079.hp1 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19083.hp1 NA19084.hp1 NA19084.hp2 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA20300.hp2 NA20752.hp1	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0001c0003 a0001c0006 others(2): Show a0001c0001 a0001c0003 a0001c0006 a0004c0009 a0005c0010	a0001c0001t0001 a0001c0001t0004 a0001c0003t0001 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0003t0001 a0001c0006t0001 a0004c0009t0001 a0005c0010t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(67): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0059 a0001c0001t0001g0063 a0001c0001t0001g0074 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0195 a0001c0001t0001g0200 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0213 a0001c0001t0004g0018 a0001c0001t0004g0147 a0001c0003t0001g0148 a0001c0003t0001g0149 a0001c0006t0001g0124 a0004c0009t0001g0125 a0005c0010t0001g0131	186	436	0.4266	-28	c.140 others(43): Show c.140-183_140-156delCACACACATATATATATATATATATATA	GSTA1	ENSG00000243955.6	transcript	ENST00000334575.6	protein_coding	3/6			chr6	TogoVar
GSTA1_chr6_52786371_52808816	52796471	ATATATAT others(21): Show ATATATATATATATATATATGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	436	0.0023	-28	c.140 others(43): Show c.140-185_140-158delCACACACACATATATATATATATATATA	GSTA1	ENSG00000243955.6	transcript	ENST00000334575.6	protein_coding	3/6			chr6	TogoVar
GSTA2_chr6_52745087_52768475	52762104	CCAGGGAC others(21): Show CCAGGGACACAAAACACTGCGGAAGGCCG	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01167.hp2 HG01169.hp1 others(7): Show HG00741.hp1 HG01167.hp2 HG01169.hp1 HG02109.hp2 HG02965.hp1 HG02970.hp2 HG03139.hp1 HG03209.hp1 HG03471.hp1 HG03516.hp1	a0002 a0002	a0002c0005 a0002c0009 a0002c0005 a0002c0009	a0002c0005t0004 a0002c0009t0004 a0002c0005t0004 a0002c0009t0004	a0002c0005t0004g0014 a0002c0005t0004g0058 a0002c0005t0004g0150 others(1): Show a0002c0005t0004g0014 a0002c0005t0004g0058 a0002c0005t0004g0150 a0002c0009t0004g0151	10	440	0.0227	-28	c.-31 others(45): Show c.-31+1312_-31+1339delCGGCCTTCCGCAGTGTTTTGTGTCCCTG	GSTA2	ENSG00000244067.3	transcript	ENST00000493422.3	protein_coding	1/6			chr6	TogoVar
GSTCD_chr4_105703784_105852725	105794823	TTATCTAT others(21): Show TTATCTATCTATCTATTTATCTATCTATC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02886.hp2 HG03486.hp1 others(1): Show HG02145.hp1 HG02886.hp2 HG03486.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0019 a0001c0002t0011 others(1): Show a0001c0001t0003 a0001c0001t0019 a0001c0002t0011 a0001c0002t0020	a0001c0001t0003g0115 a0001c0001t0019g0066 a0001c0002t0011g0138 others(1): Show a0001c0001t0003g0115 a0001c0001t0019g0066 a0001c0002t0011g0138 a0001c0002t0020g0136	4	186	0.0215	-28	c.124 others(49): Show c.1241-28115_1241-28088delTTATCTATCTATCTATCTATCTAT CTAT	GSTCD	ENSG00000138780.15	transcript	ENST00000515279.6	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
GSTM4_chr1_109651099_109666700	109654081	AAAGAAAG others(21): Show AAAGAAAGAAAGAAAAGAAAGAAAGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG02698.hp1 NA18940.hp1 others(1): Show HG01109.hp1 HG02698.hp1 NA18940.hp1 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0025 a0001c0001t0002g0003 a0001c0001t0002g0021 a0001c0001t0001g0025 a0001c0001t0002g0003 a0001c0001t0002g0021	4	364	0.0110	-28	c.-23 others(39): Show c.-2308_-2281delAAGAAAGAAAGAAAAGAAAGAAAGAAAG	GSTM4	ENSG00000168765.19	transcript	ENST00000369836.9	protein_coding		2017		chr1	TogoVar
GSTM4_chr1_109651099_109666700	109654130	AAAGAAAG others(21): Show AAAGAAAGAAAAGAAAGAAAGAAAGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0050 a0001c0002t0003g0050	1	364	0.0028	-28	c.-22 others(39): Show c.-2259_-2232delAAGAAAGAAAAGAAAGAAAGAAAGAAAG	GSTM4	ENSG00000168765.19	transcript	ENST00000369836.9	protein_coding		1968		chr1	TogoVar
GSTO2_chr10_104264184_104309950	104306048	TGTGTGTG others(21): Show TGTGTGTGCGCGCGCGCGCGCGCGTGCGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00609.hp1 HG00621.hp1 others(35): Show HG00280.hp2 HG00609.hp1 HG00621.hp1 HG01081.hp1 HG01168.hp2 HG01192.hp1 HG02040.hp2 HG02300.hp2 HG02572.hp1 HG02647.hp1 HG02738.hp2 HG02809.hp2 HG02886.hp2 HG03453.hp1 HG03491.hp2 HG03492.hp2 HG03704.hp1 HG03710.hp1 HG03942.hp1 NA18945.hp1 NA18947.hp2 NA18955.hp2 NA18970.hp2 NA18975.hp2 NA18978.hp1 NA18979.hp2 NA19010.hp1 NA19012.hp1 NA19056.hp1 NA19057.hp2 NA19058.hp1 NA19067.hp1 NA19079.hp1 NA19085.hp2 NA19088.hp1 NA19091.hp2 NA20752.hp1 NA20805.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0020 a0001c0002t0043 others(4): Show a0001c0002t0002 a0001c0002t0020 a0001c0002t0043 a0001c0002t0044 a0001c0002t0045 a0001c0002t0046 a0001c0002t0047	a0001c0002t0002g0005 a0001c0002t0002g0019 a0001c0002t0002g0020 others(30): Show a0001c0002t0002g0005 a0001c0002t0002g0019 a0001c0002t0002g0020 a0001c0002t0002g0021 a0001c0002t0002g0089 a0001c0002t0002g0090 a0001c0002t0002g0091 a0001c0002t0002g0092 a0001c0002t0002g0094 a0001c0002t0002g0095 a0001c0002t0002g0096 a0001c0002t0002g0097 a0001c0002t0002g0099 a0001c0002t0002g0102 a0001c0002t0002g0105 a0001c0002t0002g0106 a0001c0002t0002g0108 a0001c0002t0002g0109 a0001c0002t0002g0110 a0001c0002t0002g0111 a0001c0002t0002g0113 a0001c0002t0002g0115 a0001c0002t0002g0119 a0001c0002t0002g0120 a0001c0002t0002g0121 a0001c0002t0002g0122 a0001c0002t0002g0126 a0001c0002t0020g0006 a0001c0002t0043g0114 a0001c0002t0044g0103 a0001c0002t0045g0123 a0001c0002t0046g0098 a0001c0002t0047g0107	38	300	0.1267	-28	c.67 others(39): Show c.6765_*6792delGTGTGTGCGCGCGCGCGCGCGCGTGCGC	GSTO2	ENSG00000065621.15	transcript	ENST00000338595.7	protein_coding		1099		chr10	TogoVar
GTF2F2_chr13_45115510_45289893	45245680	TATATATA others(21): Show TATATATATATATATATATATACATATAC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01109.hp2 HG01243.hp1 others(38): Show HG00639.hp2 HG01109.hp2 HG01243.hp1 HG01361.hp1 HG01891.hp2 HG01934.hp1 HG02055.hp2 HG02258.hp2 HG02280.hp2 HG02451.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02717.hp1 HG02723.hp1 HG02809.hp2 HG02895.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03486.hp2 HG03491.hp1 HG03516.hp1 HG03688.hp1 HG06807.hp2 NA18906.hp2 NA18954.hp1 NA18962.hp1 NA18982.hp2 NA19030.hp2 NA19043.hp1 NA19240.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(38): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0045 a0001c0001t0001g0053 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0002g0001 a0001c0001t0002g0007 a0001c0001t0002g0009 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0031 a0001c0001t0002g0032	41	210	0.1952	-28	c.387 others(45): Show c.387-7187_387-7160delTATATATATATATATATACATATACATA	GTF2F2	ENSG00000188342.13	transcript	ENST00000340473.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GTF2H2_chr5_71030347_71072676	71030448	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0049 a0001c0002t0001g0049	1	79	0.0127	-28	c.52 others(39): Show c.5201_*5228delTTTTTTTTTTTTTTTTTTTTTTTTTTTT	GTF2H2	ENSG00000145736.15	transcript	ENST00000274400.10	protein_coding		4898		chr5	TogoVar
GTF2H5_chr6_158163350_158204344	158169397	TTATATTG others(21): Show TTATATTGTATATTATATATTATATATAA	T T	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0203 a0001c0001t0004g0203	1	384	0.0026	-28	c.-35 others(45): Show c.-35+1022_-34-1026delTATATATAATATATTGTATATTATATAT	GTF2H5	ENSG00000272047.4	transcript	ENST00000607778.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
GTF2H5_chr6_158163350_158204344	158201363	TTTTGTGT others(21): Show TTTTGTGTGTGTGTGTGTGTGTGTGTGTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 HG03540.hp2 HG02647.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0195 a0001c0001t0045g0196 a0001c0001t0045g0195 a0001c0001t0045g0196	2	384	0.0052	-28	c.92 others(39): Show c.9207_*9234delTTTGTGTGTGTGTGTGTGTGTGTGTGTG	GTF2H5	ENSG00000272047.4	transcript	ENST00000607778.2	protein_coding		2020		chr6	TogoVar
GTF2IRD2B_chr7_75087590_75154817	75099737	AAAATAAA others(21): Show AAAATAAATAAATAAATAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01891.hp2 HG02055.hp2 others(15): Show HG01109.hp1 HG01891.hp2 HG02055.hp2 HG02258.hp1 HG02451.hp2 HG02486.hp2 HG02622.hp1 HG02723.hp2 HG02809.hp2 HG02895.hp2 HG02896.hp1 HG02976.hp1 HG03225.hp1 HG03453.hp1 HG03516.hp1 HG03540.hp1 NA18906.hp2 NA19240.hp1	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0002c0002 a0009c0007 a0001c0001 a0002c0002 a0009c0007	a0001c0001t0002 a0002c0002t0002 a0009c0007t0002 a0001c0001t0002 a0002c0002t0002 a0009c0007t0002	a0001c0001t0002g0164 a0002c0002t0002g0152 a0002c0002t0002g0153 others(15): Show a0001c0001t0002g0164 a0002c0002t0002g0152 a0002c0002t0002g0153 a0002c0002t0002g0154 a0002c0002t0002g0155 a0002c0002t0002g0156 a0002c0002t0002g0157 a0002c0002t0002g0158 a0002c0002t0002g0159 a0002c0002t0002g0160 a0002c0002t0002g0161 a0002c0002t0002g0162 a0002c0002t0002g0163 a0002c0002t0002g0165 a0002c0002t0002g0167 a0002c0002t0002g0168 a0002c0002t0002g0169 a0009c0007t0002g0166	18	170	0.1059	-28	c.-6+ others(43): Show c.-6+6992_-6+7019delTAAATAAATAAATAAATAAATAAATAAA	GTF2IRD2B	ENSG00000174428.19	transcript	ENST00000472837.7	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
GTF2I_chr7_74652718_74765692	74712487	AGTGTGTG others(21): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03195.hp1 HG02451.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0027 a0001c0001t0001g0028	2	174	0.0115	-28	c.763 others(45): Show c.763+1401_763+1428delGTGTGTGTGTGTGTGTGTGTGTGTGTGT	GTF2I	ENSG00000263001.8	transcript	ENST00000573035.6	protein_coding	9/34		INFO_REALIGN_3_PRIME	chr7	TogoVar
GTSF1L_chr20_43721164_43732002	43725983	CTGTATGC others(21): Show CTGTATGCATTGATAATGTTTATAGCTAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	422	0.0024	-28	c.23 others(37): Show c.237_*264delATAGCTATAAACATTATCAATGCATACA	GTSF1L	ENSG00000124196.6	transcript	ENST00000373003.2	protein_coding		180		chr20	TogoVar
GUCY1A2_chr11_106669019_107023476	106922689	ATATATAT others(21): Show ATATATATATATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG01081.hp2 NA18522.hp1 HG01081.hp2 NA18522.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0014 a0001c0003t0003 a0001c0003t0014	a0001c0003t0003g0245 a0001c0003t0014g0246 a0001c0003t0003g0245 a0001c0003t0014g0246	2	256	0.0078	-28	c.120 others(49): Show c.1206+16743_1206+16770delCATATATATATATATATATATATA TATA	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	4/7			chr11	TogoVar
GUCY2F_chrX_109367906_109487086	109417946	AGATGTGC others(21): Show AGATGTGCTGGATCATAAGAAGAATATTT	A A	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01243.hp1 HG01891.hp1 others(31): Show HG00597.hp1 HG01243.hp1 HG01891.hp1 HG02015.hp1 HG02109.hp2 HG02145.hp1 HG02258.hp1 HG02523.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03209.hp1 HG03225.hp1 HG03486.hp1 HG03516.hp1 HG03540.hp2 NA18747.hp1 NA18939.hp1 NA18979.hp1 NA18982.hp1 NA19002.hp2 NA19030.hp1 NA19068.hp1 NA19240.hp2 NA21309.hp1	a0001 a0004 a0005 others(6): Show a0001 a0004 a0005 a0006 a0007 a0008 a0011 a0012 a0013	a0001c0001 a0004c0004 a0005c0006 others(6): Show a0001c0001 a0004c0004 a0005c0006 a0006c0005 a0007c0008 a0008c0007 a0011c0012 a0012c0010 a0013c0013	a0001c0001t0001 a0001c0001t0002 a0004c0004t0001 others(11): Show a0001c0001t0001 a0001c0001t0002 a0004c0004t0001 a0004c0004t0002 a0005c0006t0001 a0005c0006t0002 a0006c0005t0001 a0006c0005t0002 a0007c0008t0001 a0008c0007t0001 a0011c0012t0001 a0011c0012t0002 a0012c0010t0001 a0013c0013t0001	a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0152 others(30): Show a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0159 a0001c0001t0002g0206 a0004c0004t0001g0024 a0004c0004t0001g0042 a0004c0004t0001g0043 a0004c0004t0002g0008 a0004c0004t0002g0202 a0004c0004t0002g0204 a0005c0006t0001g0098 a0005c0006t0001g0160 a0005c0006t0002g0185 a0006c0005t0001g0167 a0006c0005t0002g0172 a0006c0005t0002g0174 a0006c0005t0002g0175 a0007c0008t0001g0162 a0007c0008t0001g0163 a0007c0008t0001g0164 a0008c0007t0001g0168 a0008c0007t0001g0169 a0008c0007t0001g0170 a0011c0012t0001g0166 a0011c0012t0002g0199 a0012c0010t0001g0027 a0012c0010t0001g0057 a0013c0013t0001g0165	34	217	0.1567	-28	c.179 others(47): Show c.1792-8806_1792-8779delAAATATTCTTCTTATGATCCAGCACA TC	GUCY2F	ENSG00000101890.5	transcript	ENST00000218006.3	protein_coding	8/19			chrX	TogoVar
GUCY2F_chrX_109367906_109487086	109481042	AGAAGGAA others(21): Show AGAAGGAAGGAAGGAAGGAAGGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0151 a0003c0003t0001g0151	1	217	0.0046	-28	c.-86 others(43): Show c.-86+796_-86+823delCTTCCTTCCTTCCTTCCTTCCTTCCTTC	GUCY2F	ENSG00000101890.5	transcript	ENST00000218006.3	protein_coding	1/19			chrX	TogoVar
GXYLT1_chr12_42076845_42149874	42112044	TAGCAAAC others(21): Show TAGCAAACTCCAAACTCCAACAGACCTGC	T T	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01496.hp1 HG01106.hp1 HG01496.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0006 a0001c0005t0004g0006	2	398	0.0050	-28	c.487 others(45): Show c.487-2381_487-2354delGCAGGTCTGTTGGAGTTTGGAGTTTGCT	GXYLT1	ENSG00000151233.11	transcript	ENST00000398675.8	protein_coding	3/7			chr12	TogoVar
GYG2_chrX_2823930_2887818	2844498	GTGCGTAT others(21): Show GTGCGTATATATGTGTATACGCACACGCA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02622.hp2 HG02970.hp1 others(3): Show HG00408.hp1 HG02622.hp2 HG02970.hp1 HG02976.hp2 HG03017.hp1 HG03516.hp2	a0001 a0002 a0012 a0001 a0002 a0012	a0001c0004 a0002c0002 a0012c0018 a0001c0004 a0002c0002 a0012c0018	a0001c0004t0001 a0002c0002t0003 a0002c0002t0005 others(2): Show a0001c0004t0001 a0002c0002t0003 a0002c0002t0005 a0002c0002t0006 a0012c0018t0001	a0001c0004t0001g0103 a0002c0002t0003g0033 a0002c0002t0003g0034 others(3): Show a0001c0004t0001g0103 a0002c0002t0003g0033 a0002c0002t0003g0034 a0002c0002t0005g0050 a0002c0002t0006g0051 a0012c0018t0001g0099	6	316	0.0190	-28	c.149 others(45): Show c.149+1182_149+1209delATGTGTATACGCACACGCATGCGTATAT	GYG2	ENSG00000056998.21	transcript	ENST00000398806.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
GYG2_chrX_2823930_2887818	2845093	ATATTTAT others(21): Show ATATTTATATACACGTGTGTATGTATATT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0110 a0002c0002t0003g0110	1	316	0.0032	-28	c.149 others(45): Show c.149+1743_149+1770delTTATATACACGTGTGTATGTATATTTAT	GYG2	ENSG00000056998.21	transcript	ENST00000398806.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
GYG2_chrX_2823930_2887818	2845525	ATATTTAT others(21): Show ATATTTATATACACGTGTGTATGTATATT	A A	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01106.hp1 others(5): Show HG01070.hp1 HG01071.hp2 HG01106.hp1 HG01891.hp2 HG02055.hp1 HG02615.hp1 HG02723.hp1 HG02809.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0003 a0002c0002 a0003c0007 a0001c0003 a0002c0002 a0003c0007	a0001c0003t0005 a0001c0003t0008 a0002c0002t0001 others(3): Show a0001c0003t0005 a0001c0003t0008 a0002c0002t0001 a0002c0002t0002 a0003c0007t0001 a0003c0007t0006	a0001c0003t0005g0304 a0001c0003t0008g0026 a0002c0002t0001g0123 others(5): Show a0001c0003t0005g0304 a0001c0003t0008g0026 a0002c0002t0001g0123 a0002c0002t0001g0124 a0002c0002t0002g0011 a0002c0002t0002g0294 a0003c0007t0001g0025 a0003c0007t0006g0031	8	316	0.0253	-28	c.149 others(45): Show c.149+2175_149+2202delTTATATACACGTGTGTATGTATATTTAT	GYG2	ENSG00000056998.21	transcript	ENST00000398806.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
GYG2_chrX_2823930_2887818	2871689	CAAATAAA others(21): Show CAAATAAATAAATAAATAAATAAATAAAT	C C	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0219 a0002c0002t0008g0219	1	316	0.0032	-28	c.103 others(47): Show c.1039-4101_1039-4074delTAAATAAATAAATAAATAAATAAATA AA	GYG2	ENSG00000056998.21	transcript	ENST00000398806.8	protein_coding	8/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
GYS2_chr12_21531107_21609847	21565390	AATATATA others(21): Show AATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0052 a0002c0002t0001g0052	1	312	0.0032	-28	c.824 others(45): Show c.824-2073_824-2046delATATATATATATATATATATATATATAT	GYS2	ENSG00000111713.3	transcript	ENST00000261195.3	protein_coding	5/15			chr12	TogoVar
H2AB3_chrX_155454415_155465005	155463562	TTGAAAGA others(21): Show TTGAAAGAATAGGAGTGGATCTGGCAAGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	214	0.0047	-28	c.-36 others(39): Show c.-3663_-3636delGCTTGCCAGATCCACTCCTATTCTTTCA	H2AB3	ENSG00000277745.1	transcript	ENST00000615853.1	protein_coding		3558		chrX	TogoVar
H4C15_chr1_149855764_149866159	149865946	AAAAAGAA others(21): Show AAAAAGAAAGAAGAAAGAAAGAAAGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	206	0.0049	-28	c.-48 others(39): Show c.-4843_-4816delCTTTCTTTCTTTCTTTCTTCTTTCTTTT	H4C15	ENSG00000270276.3	transcript	ENST00000579512.3	protein_coding		4788		chr1	TogoVar
H6PD_chr1_9229774_9276337	9258249	GTGTTGTT others(21): Show GTGTTGTTACATCAGTGTTGTTACGTTGC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(160): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00621.hp2 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01891.hp1 HG01928.hp1 HG01943.hp1 HG01952.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02056.hp2 HG02074.hp1 HG02083.hp1 HG02129.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02486.hp1 HG02602.hp1 HG02615.hp1 HG02647.hp2 HG02683.hp1 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02922.hp1 HG03098.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03490.hp2 HG03516.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp2 HG03710.hp1 HG03927.hp1 HG04184.hp1 HG04228.hp1 HG04228.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp2 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp2 NA18949.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18957.hp1 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18961.hp2 NA18965.hp2 NA18966.hp1 NA18967.hp1 NA18968.hp1 NA18970.hp2 NA18971.hp1 NA18974.hp2 NA18977.hp2 NA18979.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp2 NA18989.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19002.hp1 NA19003.hp2 NA19005.hp1 NA19007.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19055.hp2 NA19057.hp2 NA19066.hp2 NA19068.hp1 NA19075.hp1 NA19078.hp1 NA19080.hp2 NA19081.hp1 NA19082.hp1 NA19083.hp2 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19090.hp1 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0005 a0007 a0009 a0010 a0012 a0014 a0019 a0020 a0021 a0022	a0001c0001 a0001c0003 a0001c0004 others(22): Show a0001c0001 a0001c0003 a0001c0004 a0001c0012 a0002c0002 a0002c0005 a0002c0006 a0002c0010 a0002c0017 a0002c0019 a0002c0029 a0002c0034 a0003c0007 a0004c0008 a0004c0055 a0005c0015 a0007c0026 a0009c0022 a0010c0054 a0012c0032 a0014c0031 a0019c0027 a0020c0030 a0021c0028 a0022c0033	a0001c0001t0001 a0001c0003t0002 a0001c0003t0004 others(71): Show a0001c0001t0001 a0001c0003t0002 a0001c0003t0004 a0001c0003t0006 a0001c0003t0013 a0001c0003t0014 a0001c0003t0023 a0001c0003t0024 a0001c0003t0027 a0001c0003t0033 a0001c0003t0039 a0001c0003t0093 a0001c0003t0095 a0001c0003t0100 a0001c0003t0101 a0001c0003t0107 a0001c0003t0109 a0001c0003t0110 a0001c0003t0111 a0001c0004t0021 a0001c0012t0007 a0001c0012t0117 a0001c0012t0122 a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0013 a0002c0002t0016 a0002c0002t0023 a0002c0002t0024 a0002c0002t0025 a0002c0002t0026 a0002c0002t0096 a0002c0002t0097 a0002c0002t0098 a0002c0002t0104 a0002c0002t0105 a0002c0002t0106 a0002c0002t0112 a0002c0002t0113 a0002c0005t0001 a0002c0005t0017 a0002c0005t0019 a0002c0006t0021 a0002c0006t0038 a0002c0006t0081 a0002c0006t0082 a0002c0010t0007 a0002c0010t0040 a0002c0010t0121 a0002c0017t0002 a0002c0019t0043 a0002c0029t0120 a0002c0034t0002 a0003c0007t0003 a0003c0007t0032 a0003c0007t0064 a0003c0007t0065 a0004c0008t0003 a0004c0008t0067 a0004c0055t0003 a0005c0015t0001 a0005c0015t0018 a0005c0015t0035 a0007c0026t0006 a0007c0026t0018 a0009c0022t0003 a0010c0054t0063 a0012c0032t0007 a0014c0031t0119 a0019c0027t0002 a0020c0030t0002 a0021c0028t0002 a0022c0033t0039	a0001c0001t0001g0196 a0001c0001t0001g0202 a0001c0001t0001g0212 others(137): Show a0001c0001t0001g0196 a0001c0001t0001g0202 a0001c0001t0001g0212 a0001c0003t0002g0005 a0001c0003t0002g0012 a0001c0003t0002g0029 a0001c0003t0002g0031 a0001c0003t0002g0076 a0001c0003t0002g0110 a0001c0003t0002g0111 a0001c0003t0002g0115 a0001c0003t0002g0116 a0001c0003t0002g0131 a0001c0003t0004g0004 a0001c0003t0004g0013 a0001c0003t0004g0029 a0001c0003t0004g0033 a0001c0003t0004g0055 a0001c0003t0004g0118 a0001c0003t0004g0146 a0001c0003t0006g0161 a0001c0003t0013g0032 a0001c0003t0013g0081 a0001c0003t0013g0159 a0001c0003t0014g0026 a0001c0003t0014g0083 a0001c0003t0014g0084 a0001c0003t0023g0087 a0001c0003t0023g0130 a0001c0003t0024g0135 a0001c0003t0027g0004 a0001c0003t0027g0107 a0001c0003t0033g0191 a0001c0003t0033g0241 a0001c0003t0039g0143 a0001c0003t0093g0031 a0001c0003t0095g0104 a0001c0003t0100g0145 a0001c0003t0101g0099 a0001c0003t0107g0027 a0001c0003t0109g0085 a0001c0003t0110g0086 a0001c0003t0111g0027 a0001c0004t0021g0021 a0001c0004t0021g0223 a0001c0012t0007g0089 a0001c0012t0117g0092 a0001c0012t0122g0136 a0002c0002t0001g0240 a0002c0002t0002g0005 a0002c0002t0002g0012 a0002c0002t0002g0017 a0002c0002t0002g0033 a0002c0002t0002g0064 a0002c0002t0002g0091 a0002c0002t0002g0096 a0002c0002t0002g0113 a0002c0002t0002g0127 a0002c0002t0002g0129 a0002c0002t0002g0133 a0002c0002t0002g0139 a0002c0002t0002g0144 a0002c0002t0004g0028 a0002c0002t0004g0088 a0002c0002t0004g0097 a0002c0002t0004g0103 a0002c0002t0004g0109 a0002c0002t0004g0117 a0002c0002t0004g0119 a0002c0002t0004g0123 a0002c0002t0004g0138 a0002c0002t0013g0141 a0002c0002t0016g0030 a0002c0002t0016g0128 a0002c0002t0016g0134 a0002c0002t0023g0137 a0002c0002t0024g0028 a0002c0002t0024g0108 a0002c0002t0025g0004 a0002c0002t0025g0013 a0002c0002t0026g0004 a0002c0002t0026g0093 a0002c0002t0096g0114 a0002c0002t0097g0112 a0002c0002t0098g0105 a0002c0002t0104g0106 a0002c0002t0105g0120 a0002c0002t0106g0012 a0002c0002t0112g0098 a0002c0002t0113g0126 a0002c0005t0001g0200 a0002c0005t0001g0203 a0002c0005t0017g0008 a0002c0005t0017g0228 a0002c0005t0017g0242 a0002c0005t0019g0207 a0002c0005t0019g0211 a0002c0005t0019g0244 a0002c0006t0021g0021 a0002c0006t0038g0204 a0002c0006t0038g0206 a0002c0006t0081g0008 a0002c0006t0082g0021 a0002c0010t0007g0090 a0002c0010t0040g0004 a0002c0010t0040g0013 a0002c0010t0121g0122 a0002c0017t0002g0101 a0002c0017t0002g0102 a0002c0019t0043g0154 a0002c0029t0120g0121 a0002c0034t0002g0124 a0003c0007t0003g0014 a0003c0007t0003g0041 a0003c0007t0003g0176 a0003c0007t0003g0192 a0003c0007t0003g0195 a0003c0007t0003g0201 a0003c0007t0032g0007 a0003c0007t0064g0014 a0003c0007t0065g0041 a0004c0008t0003g0007 a0004c0008t0003g0040 a0004c0008t0003g0175 a0004c0008t0003g0198 a0004c0008t0067g0007 a0004c0055t0003g0050 a0005c0015t0001g0008 a0005c0015t0018g0008 a0005c0015t0035g0227 a0007c0026t0006g0210 a0007c0026t0018g0008 a0009c0022t0003g0178 a0010c0054t0063g0224 a0012c0032t0007g0095 a0014c0031t0119g0094 a0019c0027t0002g0100 a0020c0030t0002g0140 a0021c0028t0002g0012 a0022c0033t0039g0142	163	404	0.4035	-28	c.746 others(45): Show c.746-3799_746-3772delTCAGTGTTGTTACGTTGCTGTTGTTACA	H6PD	ENSG00000049239.13	transcript	ENST00000377403.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr1	TogoVar

Search by Variant

Search

Search Results (Total: 7045 hits)