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
GPRC5D_chr12_12935575_12957170	12956478	T T	TTTCCTTC others(21): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG02922.hp2 HG02976.hp1 others(2): Show HG02647.hp1 HG02922.hp2 HG02976.hp1 HG03516.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0370 a0001c0001t0001g0371 a0001c0001t0001g0383 others(2): Show a0001c0001t0001g0370 a0001c0001t0001g0371 a0001c0001t0001g0383 a0001c0001t0002g0374 a0001c0001t0002g0376	5	406	0.0123	28	c.-44 others(39): Show c.-4418_-4417insGAAAGGAAGGAAGGAAGGAAGGAAGGAA	GPRC5D	ENSG00000111291.9	transcript	ENST00000228887.6	protein_coding		4309		chr12	TogoVar
GPRC6A_chr6_116787085_116834083	116818532	T T	TCAAAAAA others(21): Show TCAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0018 a0018	a0018c0027 a0018c0027	a0018c0027t0001 a0018c0027t0001	a0018c0027t0001g0236 a0018c0027t0001g0236	1	368	0.0027	28	c.195 others(45): Show c.195-8916_195-8915insTTTTTTTTTTTTTTTTTTTTTTTTTTTG	GPRC6A	ENSG00000173612.10	transcript	ENST00000310357.8	protein_coding	1/5			chr6	TogoVar
GPSM2_chr1_108871985_108939545	108873383	G G	GATATATA others(21): Show GATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0175 a0001c0001t0016g0175	1	260	0.0039	28	c.-40 others(39): Show c.-4094_-4093insATATATATATATATATATATATATATAT	GPSM2	ENSG00000121957.15	transcript	ENST00000264126.9	protein_coding		3601		chr1	TogoVar
GPSM2_chr1_108871985_108939545	108908728	A A	AACACACA others(21): Show AACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02818.hp1 HG03098.hp2 others(1): Show HG02615.hp2 HG02818.hp1 HG03098.hp2 HG03453.hp2	a0002 a0004 a0009 a0002 a0004 a0009	a0002c0006 a0004c0004 a0009c0013 a0002c0006 a0004c0004 a0009c0013	a0002c0006t0010 a0004c0004t0034 a0009c0013t0050 a0002c0006t0010 a0004c0004t0034 a0009c0013t0050	a0002c0006t0010g0020 a0002c0006t0010g0021 a0004c0004t0034g0032 others(1): Show a0002c0006t0010g0020 a0002c0006t0010g0021 a0004c0004t0034g0032 a0009c0013t0050g0056	4	260	0.0154	28	c.119 others(47): Show c.1192+4484_1192+4485insACACACACACACACACACACACACAC AC	GPSM2	ENSG00000121957.15	transcript	ENST00000264126.9	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
GPSM2_chr1_108871985_108939545	108917611	C C	CACACACA others(21): Show CACACACACACACACACATATATATATAT	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0110 a0001c0001t0002g0110	1	260	0.0039	28	c.126 others(47): Show c.1264-1001_1264-1000insCACACACACACACACATATATATATA TA	GPSM2	ENSG00000121957.15	transcript	ENST00000264126.9	protein_coding	11/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
GPSM2_chr1_108871985_108939545	108917611	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0075 a0001c0001t0002g0075	1	260	0.0039	28	c.126 others(45): Show c.1264-974_1264-947dupTATATATATATATATATATATATATATA	GPSM2	ENSG00000121957.15	transcript	ENST00000264126.9	protein_coding	11/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
GRAMD1B_chr11_123425269_123632767	123449714	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02040.hp2 NA19065.hp2 HG00609.hp1 HG02040.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0002g0272 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0002g0272	3	282	0.0106	28	c.374 others(47): Show c.374+18565_374+18566insTTTTTTTTTTTTTTTTTTTTTTTTTT TT	GRAMD1B	ENSG00000023171.20	transcript	ENST00000635736.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
GRAMD1B_chr11_123425269_123632767	123457117	A A	AAAAGAAA others(21): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0038 a0001c0001t0003g0038	1	282	0.0036	28	c.375 others(47): Show c.375-23677_375-23676insAGAAAGAAAGAAAGAAAGAAAGAAAG AA	GRAMD1B	ENSG00000023171.20	transcript	ENST00000635736.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
GRAMD1B_chr11_123425269_123632767	123469772	T T	TTTCCTTC others(21): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01261.hp1 HG00099.hp2 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0248 a0001c0001t0011g0101 a0001c0001t0001g0248 a0001c0001t0011g0101	2	282	0.0071	28	c.375 others(47): Show c.375-11041_375-11040insCTTCCTTCCTTCCTTCCTTCCTTCCT TC	GRAMD1B	ENSG00000023171.20	transcript	ENST00000635736.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
GRAMD1B_chr11_123425269_123632767	123513605	C C	CCTTTCTT others(21): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01884.hp1 HG04115.hp2 others(1): Show HG01106.hp1 HG01884.hp1 HG04115.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0002t0046 a0001c0002t0056 a0001c0001t0007 a0001c0002t0046 a0001c0002t0056	a0001c0001t0007g0019 a0001c0001t0007g0253 a0001c0002t0046g0265 others(1): Show a0001c0001t0007g0019 a0001c0001t0007g0253 a0001c0002t0046g0265 a0001c0002t0056g0064	4	282	0.0142	28	c.452 others(47): Show c.452+32715_452+32716insTCTTTCTTTCTTTCTTTCTTTCTTTC TT	GRAMD1B	ENSG00000023171.20	transcript	ENST00000635736.2	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
GRAMD1B_chr11_123425269_123632767	123513609	C C	CCTTTCTT others(21): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01257.hp1 HG02257.hp2 others(3): Show HG00609.hp2 HG01257.hp1 HG02257.hp2 HG04184.hp1 NA18974.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0018 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0018 a0001c0001t0065 a0001c0001t0073 a0001c0002t0005	a0001c0001t0001g0074 a0001c0001t0002g0155 a0001c0001t0018g0239 others(3): Show a0001c0001t0001g0074 a0001c0001t0002g0155 a0001c0001t0018g0239 a0001c0001t0065g0188 a0001c0001t0073g0251 a0001c0002t0005g0078	6	282	0.0213	28	c.452 others(47): Show c.452+32719_452+32720insTCTTTCTTTCTTTCTTTCTTTCTTTC TT	GRAMD1B	ENSG00000023171.20	transcript	ENST00000635736.2	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
GRAMD1B_chr11_123425269_123632767	123513613	C C	CCTTTCTT others(21): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG04204.hp1 HG04204.hp2 others(1): Show HG01099.hp2 HG04204.hp1 HG04204.hp2 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0018 a0001c0002t0022 a0001c0002t0027 others(1): Show a0001c0001t0018 a0001c0002t0022 a0001c0002t0027 a0001c0002t0045	a0001c0001t0018g0170 a0001c0002t0022g0100 a0001c0002t0027g0113 others(1): Show a0001c0001t0018g0170 a0001c0002t0022g0100 a0001c0002t0027g0113 a0001c0002t0045g0193	4	282	0.0142	28	c.452 others(47): Show c.452+32723_452+32724insTCTTTCTTTCTTTCTTTCTTTCTTTC TT	GRAMD1B	ENSG00000023171.20	transcript	ENST00000635736.2	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
GRAMD1B_chr11_123425269_123632767	123513617	C C	CCTTCCCT others(21): Show CCTTCCCTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	282	0.0036	28	c.452 others(47): Show c.452+32727_452+32728insCCCTTCTTTCTTTCTTTCTTTCTTTC TT	GRAMD1B	ENSG00000023171.20	transcript	ENST00000635736.2	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
GRAMD1B_chr11_123425269_123632767	123513617	C C	CCTTCCTT others(21): Show CCTTCCTTCCTTCCTTCCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0062 a0001c0001t0003g0062	1	282	0.0036	28	c.452 others(47): Show c.452+32727_452+32728insCCTTCCTTCCTTCCTTTCTTTCTTTC TT	GRAMD1B	ENSG00000023171.20	transcript	ENST00000635736.2	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
GRAMD1B_chr11_123425269_123632767	123513617	C C	CCTTCCTT others(21): Show CCTTCCTTCCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0058 a0001c0002t0058	a0001c0002t0058g0096 a0001c0002t0058g0096	1	282	0.0036	28	c.452 others(47): Show c.452+32727_452+32728insCCTTCCTTTCTTTCTTTCTTTCTTTC TT	GRAMD1B	ENSG00000023171.20	transcript	ENST00000635736.2	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
GRAMD1B_chr11_123425269_123632767	123513617	C C	CCTTCCTT others(21): Show CCTTCCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0012 a0001c0004t0005g0012	1	282	0.0036	28	c.452 others(47): Show c.452+32727_452+32728insCCTTTCTTTCTTTCTTTCTTTCTTTC TT	GRAMD1B	ENSG00000023171.20	transcript	ENST00000635736.2	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
GRAMD1B_chr11_123425269_123632767	123513617	C C	CCTTTCTT others(21): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG02132.hp2 others(1): Show HG01167.hp2 HG01169.hp1 HG02132.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0011 a0001c0001t0041 a0001c0002t0048 a0001c0001t0011 a0001c0001t0041 a0001c0002t0048	a0001c0001t0011g0258 a0001c0001t0011g0259 a0001c0001t0041g0278 others(1): Show a0001c0001t0011g0258 a0001c0001t0011g0259 a0001c0001t0041g0278 a0001c0002t0048g0109	4	282	0.0142	28	c.452 others(47): Show c.452+32725_452+32752dupCTTTCTTTCTTTCTTTCTTTCTTTCT TT	GRAMD1B	ENSG00000023171.20	transcript	ENST00000635736.2	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
GRAMD4_chr22_46615386_46684785	46648686	T T	TGATGGAT others(21): Show TGATGGATGGATGCATGGATGGATGGATG	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02965.hp2 HG01433.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0048 a0001c0001t0030 a0001c0001t0048	a0001c0001t0030g0044 a0001c0001t0048g0191 a0001c0001t0030g0044 a0001c0001t0048g0191	2	328	0.0061	28	c.284 others(45): Show c.284-9468_284-9441dupGATGGATGCATGGATGGATGGATGGATG	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46648911	G G	GATGGATG others(21): Show GATGGATGGATGGATGGATGGATGGATGC	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG02257.hp2 HG02735.hp1 others(6): Show HG01168.hp2 HG02257.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG03669.hp2 HG03688.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0009 a0001c0001t0016 others(2): Show a0001c0001t0005 a0001c0001t0009 a0001c0001t0016 a0001c0001t0017 a0001c0001t0050	a0001c0001t0005g0105 a0001c0001t0005g0111 a0001c0001t0005g0142 others(6): Show a0001c0001t0005g0105 a0001c0001t0005g0111 a0001c0001t0005g0142 a0001c0001t0005g0143 a0001c0001t0005g0213 a0001c0001t0009g0054 a0001c0001t0016g0018 a0001c0001t0017g0043 a0001c0001t0050g0147	9	328	0.0274	28	c.284 others(45): Show c.284-9253_284-9252insGATGCATGGATGGATGGATGGATGGATG	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46648943	G G	GATGGATG others(21): Show GATGGATGGATGGATGGATGGATGGATGC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02896.hp1 HG01884.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0019 a0001c0001t0004 a0001c0001t0019	a0001c0001t0004g0061 a0001c0001t0019g0062 a0001c0001t0004g0061 a0001c0001t0019g0062	2	328	0.0061	28	c.284 others(45): Show c.284-9217_284-9216insCATGGATGGATGGATGGATGGATGGATG	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46648947	G G	GATGGATG others(21): Show GATGGATGGATGGATGGATGCATGGATGC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01070.hp2 HG01243.hp1 others(9): Show HG00642.hp2 HG01070.hp2 HG01243.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02615.hp1 HG02630.hp1 HG03225.hp1 HG03239.hp2 HG03471.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0007 a0001c0001t0013 a0001c0001t0005 a0001c0001t0007 a0001c0001t0013	a0001c0001t0005g0063 a0001c0001t0007g0022 a0001c0001t0007g0023 others(9): Show a0001c0001t0005g0063 a0001c0001t0007g0022 a0001c0001t0007g0023 a0001c0001t0007g0024 a0001c0001t0007g0025 a0001c0001t0007g0026 a0001c0001t0007g0027 a0001c0001t0007g0028 a0001c0001t0007g0029 a0001c0001t0007g0033 a0001c0001t0013g0020 a0001c0001t0013g0055	12	328	0.0366	28	c.284 others(45): Show c.284-9221_284-9220insCATGGATGCATGGATGGATGGATGGATG	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRB14_chr2_164487417_164626482	164573913	T T	TATGGGTA others(21): Show TATGGGTAACAATGCAGTCTCACCCTATC	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19058.hp2 NA19005.hp1 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0044 a0001c0001t0001g0030 a0001c0001t0001g0044	2	294	0.0068	28	c.325 others(47): Show c.325-26125_325-26098dupGATAGGGTGAGACTGCATTGTTACCC AT	GRB14	ENSG00000115290.11	transcript	ENST00000263915.8	protein_coding	2/13			chr2	TogoVar
GREB1L_chr18_21237232_21531112	21268560	C C	CACACATA others(21): Show CACACATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	148	0.0068	28	c.-12 others(49): Show c.-120+26168_-120+26169insCACATATATATATATATATATATA TATA	GREB1L	ENSG00000141449.16	transcript	ENST00000424526.7	protein_coding	1/32		INFO_REALIGN_3_PRIME	chr18	TogoVar
GREB1L_chr18_21237232_21531112	21429129	T T	TCCTTCCT others(21): Show TCCTTCCTTCCTTCCTTCCTTCCTTCCTC	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0136 a0001c0001t0012g0136	1	148	0.0068	28	c.833 others(47): Show c.833-10373_833-10372insTCCTTCCTCCCTTCCTTCCTTCCTTC CT	GREB1L	ENSG00000141449.16	transcript	ENST00000424526.7	protein_coding	7/32		INFO_REALIGN_3_PRIME	chr18	TogoVar
GREB1_chr2_11529045_11647788	11587741	A A	ACACACAC others(21): Show ACACACACACACACACACACACACACGCG	intron_variant intron_variant	MODIFIER	HG02135.hp2 NA18988.hp2 HG02135.hp2 NA18988.hp2	a0002 a0005 a0002 a0005	a0002c0011 a0005c0002 a0002c0011 a0005c0002	a0002c0011t0001 a0005c0002t0003 a0002c0011t0001 a0005c0002t0003	a0002c0011t0001g0271 a0005c0002t0003g0152 a0002c0011t0001g0271 a0005c0002t0003g0152	2	308	0.0065	28	c.116 others(47): Show c.1160-1004_1160-1003insACACACACACACACACACACACACGC GC	GREB1	ENSG00000196208.14	transcript	ENST00000381486.7	protein_coding	9/32		INFO_REALIGN_3_PRIME	chr2	TogoVar
GREB1_chr2_11529045_11647788	11587741	A A	ACACACAC others(21): Show ACACACACACACACACACACACACGCGCG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01256.hp2 NA18942.hp2 others(1): Show HG00099.hp1 HG01256.hp2 NA18942.hp2 NA18977.hp1	a0003 a0005 a0006 a0003 a0005 a0006	a0003c0003 a0005c0002 a0005c0073 others(1): Show a0003c0003 a0005c0002 a0005c0073 a0006c0014	a0003c0003t0001 a0005c0002t0010 a0005c0073t0016 others(1): Show a0003c0003t0001 a0005c0002t0010 a0005c0073t0016 a0006c0014t0003	a0003c0003t0001g0147 a0005c0002t0010g0119 a0005c0073t0016g0162 others(1): Show a0003c0003t0001g0147 a0005c0002t0010g0119 a0005c0073t0016g0162 a0006c0014t0003g0054	4	308	0.0130	28	c.116 others(47): Show c.1160-1004_1160-1003insACACACACACACACACACACACGCGC GC	GREB1	ENSG00000196208.14	transcript	ENST00000381486.7	protein_coding	9/32		INFO_REALIGN_3_PRIME	chr2	TogoVar
GREB1_chr2_11529045_11647788	11587741	A A	ACACACAC others(21): Show ACACACACACACACACACACACGCGCGCG	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0005 a0005	a0005c0002 a0005c0002	a0005c0002t0003 a0005c0002t0003	a0005c0002t0003g0082 a0005c0002t0003g0082	1	308	0.0033	28	c.116 others(47): Show c.1160-1004_1160-1003insACACACACACACACACACACGCGCGC GC	GREB1	ENSG00000196208.14	transcript	ENST00000381486.7	protein_coding	9/32		INFO_REALIGN_3_PRIME	chr2	TogoVar
GREB1_chr2_11529045_11647788	11587741	A A	ACACACAC others(21): Show ACACACACACACACACACACGCGCGCGCG	intron_variant intron_variant	MODIFIER	HG04204.hp1 NA21309.hp2 HG04204.hp1 NA21309.hp2	a0006 a0051 a0006 a0051	a0006c0027 a0051c0086 a0006c0027 a0051c0086	a0006c0027t0004 a0051c0086t0008 a0006c0027t0004 a0051c0086t0008	a0006c0027t0004g0177 a0051c0086t0008g0245 a0006c0027t0004g0177 a0051c0086t0008g0245	2	308	0.0065	28	c.116 others(47): Show c.1160-1004_1160-1003insACACACACACACACACACGCGCGCGC GC	GREB1	ENSG00000196208.14	transcript	ENST00000381486.7	protein_coding	9/32		INFO_REALIGN_3_PRIME	chr2	TogoVar
GREM1_chr15_32713004_32750106	32713308	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 NA18986.hp2 HG01243.hp1 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0077 a0001c0001t0102 a0001c0001t0077 a0001c0001t0102	a0001c0001t0077g0040 a0001c0001t0102g0003 a0001c0001t0077g0040 a0001c0001t0102g0003	2	421	0.0048	28	c.-48 others(39): Show c.-4855_-4854insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	GREM1	ENSG00000166923.12	transcript	ENST00000651154.1	protein_coding		4695		chr15	TogoVar
GREM2_chr1_240484573_240617155	240547532	T T	TATATATA others(21): Show TATATATATATAGACAGATAGATAGATAG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02896.hp2 HG02897.hp2 HG00423.hp2 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0185 a0001c0001t0003g0134 a0001c0001t0003g0135 a0001c0001t0001g0185 a0001c0001t0003g0134 a0001c0001t0003g0135	3	376	0.0080	28	c.-1- others(45): Show c.-1-54057_-1-54056insCTATCTATCTATCTGTCTATATATATAT	GREM2	ENSG00000180875.5	transcript	ENST00000318160.5	protein_coding	1/1			chr1	TogoVar
GREM2_chr1_240484573_240617155	240547532	T T	TATATATA others(21): Show TATATATATATATATAGACAGATAGATAG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0117 a0001c0001t0011g0117	1	376	0.0027	28	c.-1- others(45): Show c.-1-54057_-1-54056insCTATCTATCTGTCTATATATATATATAT	GREM2	ENSG00000180875.5	transcript	ENST00000318160.5	protein_coding	1/1			chr1	TogoVar
GRHL1_chr2_9946693_10007277	9998721	C C	CATATATA others(21): Show CATATATATATACATATATGTGTACACAT	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0209 a0002c0002t0002g0209	1	418	0.0024	28	c.167 others(45): Show c.1678-243_1678-242insTATATATATACATATATGTGTACACATA	GRHL1	ENSG00000134317.18	transcript	ENST00000324907.14	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
GRHL1_chr2_9946693_10007277	9998729	T T	TGTACACA others(21): Show TGTACACATATATATACATATATATGTAC	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02602.hp1 HG02698.hp1 others(1): Show HG01099.hp2 HG02602.hp1 HG02698.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0097 a0001c0001t0002g0100 a0001c0001t0002g0112 others(1): Show a0001c0001t0002g0097 a0001c0001t0002g0100 a0001c0001t0002g0112 a0001c0001t0002g0115	4	418	0.0096	28	c.167 others(45): Show c.1678-236_1678-235insGTACACATATATATACATATATATGTAC	GRHL1	ENSG00000134317.18	transcript	ENST00000324907.14	protein_coding	14/15			chr2	TogoVar
GRHL1_chr2_9946693_10007277	9998767	T T	TACACACA others(21): Show TACACACATATATACGTATATATATGTAC	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0236 a0001c0001t0001g0236	1	418	0.0024	28	c.167 others(45): Show c.1678-192_1678-165dupCATATATACGTATATATATGTACACACA	GRHL1	ENSG00000134317.18	transcript	ENST00000324907.14	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
GRHL1_chr2_9946693_10007277	9998887	T T	TACACATA others(21): Show TACACATATATATGTACACATATATATAC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0352 a0001c0001t0007g0352	1	418	0.0024	28	c.167 others(43): Show c.1678-75_1678-74insCATATATATGTACACATATATATACACA	GRHL1	ENSG00000134317.18	transcript	ENST00000324907.14	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
GRHL1_chr2_9946693_10007277	9998889	C C	CATATATA others(21): Show CATATATATGTACACATATATATATACAT	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0180 a0002c0002t0002g0180	1	418	0.0024	28	c.167 others(43): Show c.1678-68_1678-67insGTACACATATATATATACATATATATAT	GRHL1	ENSG00000134317.18	transcript	ENST00000324907.14	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
GRHL2_chr8_101487439_101674726	101509187	T T	TCTTTCTT others(21): Show TCTTTCTTTCTTTCTTTCTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0109 a0005c0008t0001g0109	1	306	0.0033	28	c.20+ others(45): Show c.20+16398_20+16399insCTTTCTTTCTTTCTTTCTTCTTTCTTTC	GRHL2	ENSG00000083307.12	transcript	ENST00000646743.1	protein_coding	1/15			chr8	TogoVar
GRHL2_chr8_101487439_101674726	101586065	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0032 a0001c0001t0049g0032	1	306	0.0033	28	c.100 others(47): Show c.1003+8571_1003+8572insTTTTTTTTTTTTTTTTTTTTTTTTTT TT	GRHL2	ENSG00000083307.12	transcript	ENST00000646743.1	protein_coding	7/15		INFO_REALIGN_3_PRIME	chr8	TogoVar
GRHL2_chr8_101487439_101674726	101662860	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02647.hp1 HG02965.hp1 others(3): Show HG02258.hp1 HG02647.hp1 HG02965.hp1 HG03139.hp2 HG03516.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0011 a0001c0005t0011 a0001c0001t0011 a0001c0005t0011	a0001c0001t0011g0053 a0001c0001t0011g0170 a0001c0001t0011g0189 others(3): Show a0001c0001t0011g0053 a0001c0001t0011g0170 a0001c0001t0011g0189 a0001c0005t0011g0048 a0001c0005t0011g0201 a0001c0005t0011g0202	6	306	0.0196	28	c.169 others(47): Show c.1699-1585_1699-1584insTATATATATATATATATATATATATA TA	GRHL2	ENSG00000083307.12	transcript	ENST00000646743.1	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr8	TogoVar
GRIA1_chr5_153485670_153818869	153566304	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG02559.hp2 NA20752.hp1 HG01069.hp2 HG02559.hp2 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0049 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0049	3	194	0.0155	28	c.220 others(47): Show c.220+72255_220+72256insTTTTTTTTTTTTTTTTTTTTTTTTTT TT	GRIA1	ENSG00000155511.19	transcript	ENST00000285900.10	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr5	TogoVar
GRIA1_chr5_153485670_153818869	153656383	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG03491.hp1 HG00642.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0106 a0001c0001t0001g0003 a0001c0001t0001g0106	2	194	0.0103	28	c.699 others(43): Show c.699+515_699+542dupATATATATATATATATATATATATATAT	GRIA1	ENSG00000155511.19	transcript	ENST00000285900.10	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr5	TogoVar
GRIA1_chr5_153485670_153818869	153701619	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03710.hp2 NA18948.hp2 HG03688.hp1 HG03710.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0060 a0001c0001t0001g0075 a0001c0002t0001g0088 a0001c0001t0001g0060 a0001c0001t0001g0075 a0001c0002t0001g0088	3	194	0.0155	28	c.145 others(47): Show c.1452+2569_1452+2570insAAAAAAAAAAAAAAAAAAAAAAAAAA AA	GRIA1	ENSG00000155511.19	transcript	ENST00000285900.10	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr5	TogoVar
GRIA2_chr4_157215728_157371075	157248615	G G	GTATATAT others(21): Show GTATATATACGTATATATATACACCTGTA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02622.hp2 HG02895.hp2 others(3): Show HG01074.hp2 HG02622.hp2 HG02895.hp2 HG02922.hp1 HG03130.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0008 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0008 a0001c0002t0001 a0001c0003t0007	a0001c0001t0001g0106 a0001c0001t0008g0042 a0001c0002t0001g0040 others(3): Show a0001c0001t0001g0106 a0001c0001t0008g0042 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0129 a0001c0003t0007g0043	6	216	0.0278	28	c.229 others(47): Show c.229+26818_229+26845dupGTATATATATACACCTGTATATATAT AC	GRIA2	ENSG00000120251.22	transcript	ENST00000264426.14	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
GRIA3_chrX_123179278_123495915	123260457	A A	AAAGAAAG others(21): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGG	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	207	0.0048	28	c.508 others(45): Show c.508+6918_508+6919insAAAGAAAGAAAGAAAGAAAGAAAGGAAG	GRIA3	ENSG00000125675.20	transcript	ENST00000620443.2	protein_coding	3/15		INFO_REALIGN_3_PRIME	chrX	TogoVar
GRIA3_chrX_123179278_123495915	123260457	A A	AAAGAAAG others(21): Show AAAGAAAGAAAGAAAGAAAGAAAGGAAGG	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG03098.hp1 NA18972.hp2 others(1): Show HG02129.hp1 HG03098.hp1 NA18972.hp2 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0006	a0001c0001t0001g0079 a0001c0002t0001g0188 a0001c0002t0002g0067 others(1): Show a0001c0001t0001g0079 a0001c0002t0001g0188 a0001c0002t0002g0067 a0001c0002t0006g0026	4	207	0.0193	28	c.508 others(45): Show c.508+6918_508+6919insAAAGAAAGAAAGAAAGAAAGGAAGGAAG	GRIA3	ENSG00000125675.20	transcript	ENST00000620443.2	protein_coding	3/15		INFO_REALIGN_3_PRIME	chrX	TogoVar
GRIA3_chrX_123179278_123495915	123260457	A A	AAAGAAAG others(21): Show AAAGAAAGAAAGAAAGAAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01952.hp1 HG01175.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0016 a0001c0001t0001 a0001c0002t0016	a0001c0001t0001g0072 a0001c0002t0016g0086 a0001c0001t0001g0072 a0001c0002t0016g0086	2	207	0.0097	28	c.508 others(45): Show c.508+6918_508+6919insAAAGAAAGAAAGAAAGGAAGGAAGGAAG	GRIA3	ENSG00000125675.20	transcript	ENST00000620443.2	protein_coding	3/15		INFO_REALIGN_3_PRIME	chrX	TogoVar
GRIA3_chrX_123179278_123495915	123260457	A A	AAAGAAAG others(21): Show AAAGAAAGAAAGAAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG01256.hp1 NA19056.hp1 HG01256.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0004 a0001c0001t0001 a0001c0002t0004	a0001c0001t0001g0142 a0001c0002t0004g0156 a0001c0001t0001g0142 a0001c0002t0004g0156	2	207	0.0097	28	c.508 others(45): Show c.508+6918_508+6919insAAAGAAAGAAAGGAAGGAAGGAAGGAAG	GRIA3	ENSG00000125675.20	transcript	ENST00000620443.2	protein_coding	3/15		INFO_REALIGN_3_PRIME	chrX	TogoVar
GRIA3_chrX_123179278_123495915	123260457	A A	AAAGAAAG others(21): Show AAAGAAAGAAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02723.hp2 HG02738.hp1 others(1): Show HG00609.hp1 HG02723.hp2 HG02738.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 a0001c0002t0002	a0001c0001t0001g0138 a0001c0001t0005g0171 a0001c0001t0009g0176 others(1): Show a0001c0001t0001g0138 a0001c0001t0005g0171 a0001c0001t0009g0176 a0001c0002t0002g0052	4	207	0.0193	28	c.508 others(45): Show c.508+6918_508+6919insAAAGAAAGGAAGGAAGGAAGGAAGGAAG	GRIA3	ENSG00000125675.20	transcript	ENST00000620443.2	protein_coding	3/15		INFO_REALIGN_3_PRIME	chrX	TogoVar
GRIA3_chrX_123179278_123495915	123293438	T T	TTTTTTTT others(21): Show TTTTTTTTTTTTTTTTTATTTTATTTGAA	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	207	0.0048	28	c.509 others(47): Show c.509-32588_509-32587insTTTTTTTTTTTTTTTTATTTTATTTG AA	GRIA3	ENSG00000125675.20	transcript	ENST00000620443.2	protein_coding	3/15			chrX	TogoVar
GRIA3_chrX_123179278_123495915	123463550	C C	CGAAGGAA others(21): Show CGAAGGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03041.hp1 HG02809.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0014 a0001c0002t0002 a0001c0001t0014 a0001c0002t0002	a0001c0001t0014g0125 a0001c0002t0002g0049 a0001c0001t0014g0125 a0001c0002t0002g0049	2	207	0.0097	28	c.207 others(47): Show c.2077-1313_2077-1286dupAAGGAAGGAAGGAAGGAAGGAAGGAA GG	GRIA3	ENSG00000125675.20	transcript	ENST00000620443.2	protein_coding	12/15		INFO_REALIGN_3_PRIME	chrX	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)