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
ERC1_chr12_986223_1500931	1400908	ATTTTTGT others(7): Show ATTTTTGTATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0111 a0001c0001t0033g0111	1	162	0.0062	-14	c.292 others(33): Show c.2926-7235_2926-7222delGTATTTTTTTTTTT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	16/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1418575	TTCTTTCT others(7): Show TTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0078 a0001c0001t0004g0078	1	162	0.0062	-14	c.302 others(35): Show c.3024+10344_3024+10357delCTTTCTTTCTTTCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1418603	CTTTCTTT others(7): Show CTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02895.hp1 HG02922.hp2 others(3): Show HG01496.hp2 HG02895.hp1 HG02922.hp2 HG02970.hp2 NA19240.hp1 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0036 a0002c0002t0065 a0002c0002t0066 others(3): Show a0002c0002t0036 a0002c0002t0065 a0002c0002t0066 a0002c0002t0084 a0002c0002t0115 a0002c0002t0135	a0002c0002t0036g0158 a0002c0002t0065g0072 a0002c0002t0066g0139 others(3): Show a0002c0002t0036g0158 a0002c0002t0065g0072 a0002c0002t0066g0139 a0002c0002t0084g0025 a0002c0002t0115g0049 a0002c0002t0135g0093	6	162	0.0370	-14	c.302 others(35): Show c.3024+10358_3024+10371delTTCTTTCTTTCTTT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1418619	CTTTCTTT others(7): Show CTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0076 a0002c0002t0076	a0002c0002t0076g0146 a0002c0002t0076g0146	1	162	0.0062	-14	c.302 others(35): Show c.3024+10374_3024+10387delTTCTTTCTTTCTTT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1418623	CTTTCTTT others(7): Show CTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp1 NA18612.hp1 NA20129.hp2 HG02257.hp1 NA18612.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0125 a0001c0003t0022 a0001c0003t0046 a0001c0001t0125 a0001c0003t0022 a0001c0003t0046	a0001c0001t0125g0033 a0001c0003t0022g0114 a0001c0003t0046g0088 a0001c0001t0125g0033 a0001c0003t0022g0114 a0001c0003t0046g0088	3	162	0.0185	-14	c.302 others(35): Show c.3024+10378_3024+10391delTTCTTTCTTTCTTT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1418627	CTTTCTTT others(7): Show CTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0092 a0001c0003t0092	a0001c0003t0092g0004 a0001c0003t0092g0004	1	162	0.0062	-14	c.302 others(35): Show c.3024+10382_3024+10395delTTCTTTCTTTCTTT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1418629	TTCTTTCT others(7): Show TTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0118 a0001c0001t0031g0118	1	162	0.0062	-14	c.302 others(35): Show c.3024+10386_3024+10399delTTCTTTCTTTCTCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1440600	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01346.hp2 HG01517.hp2 others(7): Show HG00741.hp1 HG01346.hp2 HG01517.hp2 HG02109.hp2 HG02129.hp2 HG02145.hp2 HG02809.hp1 HG02818.hp2 HG03654.hp1 NA19043.hp2	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0002c0002 a0002c0006 others(1): Show a0001c0001 a0002c0002 a0002c0006 a0009c0008	a0001c0001t0007 a0001c0001t0050 a0001c0001t0067 others(7): Show a0001c0001t0007 a0001c0001t0050 a0001c0001t0067 a0001c0001t0087 a0002c0002t0018 a0002c0002t0064 a0002c0002t0072 a0002c0002t0075 a0002c0006t0051 a0009c0008t0041	a0001c0001t0007g0044 a0001c0001t0050g0144 a0001c0001t0067g0121 others(7): Show a0001c0001t0007g0044 a0001c0001t0050g0144 a0001c0001t0067g0121 a0001c0001t0087g0046 a0002c0002t0018g0117 a0002c0002t0064g0069 a0002c0002t0072g0145 a0002c0002t0075g0073 a0002c0006t0051g0081 a0009c0008t0041g0140	10	162	0.0617	-14	c.302 others(33): Show c.3025-3907_3025-3894delTGTGTGTGTGTGTG	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1464189	GTGCTAAA others(7): Show GTGCTAAATGTAGAA	G G	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0141 a0001c0001t0141	a0001c0001t0141g0002 a0001c0001t0141g0002	1	162	0.0062	-14	c.321 others(35): Show c.3213+19441_3213+19454delGCTAAATGTAGAAT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	18/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC2_chr3_55503311_56473467	55691561	AAAAAAAA others(7): Show AAAAAAAAAAAAAAT	A A	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0012	1	74	0.0135	-14	c.284 others(33): Show c.2848-7716_2848-7703delATTTTTTTTTTTTT	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	16/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	55714667	GTATATAT others(7): Show GTATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02723.hp2 NA19043.hp1 HG02723.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0019 a0001c0001t0005g0063 a0001c0001t0002g0019 a0001c0001t0005g0063	2	74	0.0270	-14	c.271 others(35): Show c.2713-15169_2713-15156delTATATATATATATA	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	15/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	55720145	CTTCTTCT others(7): Show CTTCTTCTTCTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0066 a0001c0001t0002g0066	1	74	0.0135	-14	c.271 others(35): Show c.2712+14612_2712+14625delAAGAAGAAGAAGAA	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	15/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	55733534	TCTCTCTC others(7): Show TCTCTCTCTCACACA	T T	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG02738.hp1 HG03710.hp1 others(1): Show HG01069.hp2 HG02738.hp1 HG03710.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0041 a0001c0001t0001g0059 a0001c0001t0002g0034 others(1): Show a0001c0001t0001g0041 a0001c0001t0001g0059 a0001c0001t0002g0034 a0001c0001t0005g0053	4	74	0.0541	-14	c.271 others(33): Show c.2712+1223_2712+1236delTGTGTGAGAGAGAG	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	15/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	55864158	CATATATA others(7): Show CATATATATACACAT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01167.hp2 HG01169.hp1 others(3): Show HG01109.hp2 HG01167.hp2 HG01169.hp1 HG02145.hp2 HG02486.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0006 a0001c0001t0009 others(1): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0009 a0001c0002t0004	a0001c0001t0002g0058 a0001c0001t0002g0066 a0001c0001t0006g0026 others(3): Show a0001c0001t0002g0058 a0001c0001t0002g0066 a0001c0001t0006g0026 a0001c0001t0006g0027 a0001c0001t0009g0073 a0001c0002t0004g0001	6	74	0.0811	-14	c.256 others(35): Show c.2564+24217_2564+24230delATGTGTATATATAT	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	14/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	55920415	AACACACA others(7): Show AACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG03225.hp1 HG03834.hp1 others(1): Show HG01167.hp1 HG03225.hp1 HG03834.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0003 a0001c0001t0001 a0001c0001t0002 a0001c0002t0003	a0001c0001t0001g0004 a0001c0001t0002g0034 a0001c0001t0002g0057 others(1): Show a0001c0001t0001g0004 a0001c0001t0002g0034 a0001c0001t0002g0057 a0001c0002t0003g0018	4	74	0.0541	-14	c.240 others(35): Show c.2403+29996_2403+30009delGTGTGTGTGTGTGT	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	13/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	55942266	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03834.hp2 NA18962.hp1 HG02258.hp2 HG03834.hp2 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0021 a0001c0001t0002g0040 a0001c0001t0005g0071 a0001c0001t0002g0021 a0001c0001t0002g0040 a0001c0001t0005g0071	3	74	0.0405	-14	c.240 others(33): Show c.2403+8145_2403+8158delAAAAAAAAAAAAAA	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	13/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	55955248	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01069.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0009 a0001c0001t0001g0010	2	74	0.0270	-14	c.226 others(33): Show c.2268-4702_2268-4689delCACACACACACACA	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	12/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	56032963	AAGAAAGA others(7): Show AAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0057 a0001c0001t0002g0057	1	74	0.0135	-14	c.164 others(35): Show c.1642-13946_1642-13933delCTTTCTTTCTTTCT	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	7/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	56049818	ATGTGTGT others(7): Show ATGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01071.hp2 HG01346.hp1 others(11): Show HG00741.hp1 HG01071.hp2 HG01346.hp1 HG01934.hp2 HG02258.hp2 HG02486.hp1 HG02647.hp2 HG02809.hp1 HG02965.hp1 HG03130.hp2 HG03225.hp2 HG03710.hp1 HG06807.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0003 a0001c0002t0013 a0002c0003t0001 a0002c0003t0003	a0001c0001t0001g0007 a0001c0001t0001g0059 a0001c0001t0001g0062 others(11): Show a0001c0001t0001g0007 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0002g0021 a0001c0001t0002g0054 a0001c0001t0002g0072 a0001c0001t0003g0044 a0001c0001t0003g0069 a0001c0001t0004g0020 a0001c0002t0003g0018 a0001c0002t0013g0074 a0002c0003t0001g0039 a0002c0003t0003g0025 a0002c0003t0003g0056	14	74	0.1892	-14	c.164 others(35): Show c.1642-30801_1642-30788delCACACACACACACA	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	7/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	56051826	AACACACA others(7): Show AACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01071.hp2 HG01346.hp1 others(10): Show HG00741.hp1 HG01071.hp2 HG01346.hp1 HG01934.hp2 HG02486.hp1 HG02647.hp2 HG02809.hp1 HG02965.hp1 HG03225.hp1 HG03225.hp2 HG03831.hp1 HG06807.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0003 a0001c0002t0013 a0002c0003t0001 a0002c0003t0003	a0001c0001t0001g0007 a0001c0001t0001g0062 a0001c0001t0002g0057 others(10): Show a0001c0001t0001g0007 a0001c0001t0001g0062 a0001c0001t0002g0057 a0001c0001t0002g0072 a0001c0001t0003g0044 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0004g0020 a0001c0002t0003g0018 a0001c0002t0013g0074 a0002c0003t0001g0039 a0002c0003t0003g0025 a0002c0003t0003g0056	13	74	0.1757	-14	c.164 others(35): Show c.1641+28977_1641+28990delGTGTGTGTGTGTGT	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	7/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	56111321	CTCTCTCT others(7): Show CTCTCTCTCTCTCAA	C C	intron_variant intron_variant	MODIFIER	HG03834.hp2 NA18962.hp1 HG03834.hp2 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0040 a0001c0001t0005g0071 a0001c0001t0002g0040 a0001c0001t0005g0071	2	74	0.0270	-14	c.147 others(35): Show c.1473+28174_1473+28187delTTGAGAGAGAGAGA	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	6/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	56186114	TAAAAAAA others(7): Show TAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0031 a0001c0004t0001g0031	1	74	0.0135	-14	c.107 others(35): Show c.1075-12608_1075-12595delTTTTTTTTTTTTTT	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	3/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	56313001	CATATATA others(7): Show CATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0051 a0001c0001t0003g0051	1	74	0.0135	-14	c.658 others(33): Show c.658-16580_658-16567delATATATATATATAT	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	2/17			chr3	TogoVar
ERCC2_chr19_45344837_45375573	45367364	TATATACA others(7): Show TATATACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0098 a0001c0001t0001g0099	2	412	0.0049	-14	c.360 others(31): Show c.360+1252_360+1265delGTGTGTGTGTATAT	ERCC2	ENSG00000104884.17	transcript	ENST00000391945.10	protein_coding	5/22			chr19	TogoVar
ERCC3_chr2_127252290_127299144	127295967	TAAAAAAA others(7): Show TAAAAAAAAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03017.hp1 NA19030.hp2 HG03017.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0223 a0001c0001t0001g0052 a0001c0001t0001g0223	2	350	0.0057	-14	c.-19 others(25): Show c.-1900_-1887delTTTTTTTTTTTTTT	ERCC3	ENSG00000163161.14	transcript	ENST00000285398.7	protein_coding		1824		chr2	TogoVar
ERCC6L2_chr9_95870691_96023447	95896400	GTTTTTTG others(7): Show GTTTTTTGATTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02615.hp2 HG02717.hp1 others(3): Show HG01261.hp2 HG02615.hp2 HG02717.hp1 HG02965.hp2 NA18522.hp2 NA20129.hp1	a0001 a0007 a0025 a0001 a0007 a0025	a0001c0001 a0007c0008 a0025c0029 a0001c0001 a0007c0008 a0025c0029	a0001c0001t0011 a0007c0008t0023 a0007c0008t0066 others(1): Show a0001c0001t0011 a0007c0008t0023 a0007c0008t0066 a0025c0029t0094	a0001c0001t0011g0163 a0007c0008t0023g0293 a0007c0008t0023g0294 others(3): Show a0001c0001t0011g0163 a0007c0008t0023g0293 a0007c0008t0023g0294 a0007c0008t0023g0295 a0007c0008t0066g0296 a0025c0029t0094g0207	6	392	0.0153	-14	c.472 others(31): Show c.472-1428_472-1415delGATTTTTTTTTTTT	ERCC6L2	ENSG00000182150.19	transcript	ENST00000653738.2	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr9	TogoVar
ERCC6L2_chr9_95870691_96023447	95997146	CAAAGTCA others(7): Show CAAAGTCAGTTGTTA	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01884.hp2 HG02258.hp2 others(8): Show HG01109.hp2 HG01884.hp2 HG02258.hp2 HG02895.hp2 HG02897.hp2 HG02970.hp1 HG03225.hp1 HG03486.hp1 NA18906.hp1 NA19030.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0047 a0001c0001t0057 others(1): Show a0001c0001t0010 a0001c0001t0047 a0001c0001t0057 a0001c0001t0061	a0001c0001t0010g0106 a0001c0001t0010g0112 a0001c0001t0010g0113 others(8): Show a0001c0001t0010g0106 a0001c0001t0010g0112 a0001c0001t0010g0113 a0001c0001t0010g0115 a0001c0001t0010g0116 a0001c0001t0010g0117 a0001c0001t0010g0118 a0001c0001t0010g0203 a0001c0001t0047g0121 a0001c0001t0057g0114 a0001c0001t0061g0119	11	392	0.0281	-14	c.349 others(33): Show c.3493-7372_3493-7359delAAGTCAGTTGTTAA	ERCC6L2	ENSG00000182150.19	transcript	ENST00000653738.2	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr9	TogoVar
ERCC6L2_chr9_95870691_96023447	96022845	TCTGCTTT others(7): Show TCTGCTTTCCTGGAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0074 a0001c0001t0074	a0001c0001t0074g0208 a0001c0001t0074g0208	1	392	0.0026	-14	c.96 others(25): Show c.9643_*9656delCTGCTTTCCTGGAG	ERCC6L2	ENSG00000182150.19	transcript	ENST00000653738.2	protein_coding		4399		chr9	TogoVar
ERCC6L_chrX_72199665_72244027	72200826	CCTTAGAT others(7): Show CCTTAGATCAGGGGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp1 HG03704.hp2 HG03834.hp2 HG03017.hp1 HG03704.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0014 a0001c0001t0002g0001 a0001c0001t0002g0014	3	286	0.0105	-14	c.41 others(25): Show c.4174_*4187delACCCCTGATCTAAG	ERCC6L	ENSG00000186871.7	transcript	ENST00000334463.4	protein_coding		3838		chrX	TogoVar
ERCC6_chr10_49449470_49544121	49484278	CAAAAAAA others(7): Show CAAAAAAAAAAAAAG	C C	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18986.hp2 NA18940.hp2 NA18986.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0026 a0003c0003t0001g0026	2	388	0.0052	-14	c.182 others(31): Show c.1822-776_1822-763delCTTTTTTTTTTTTT	ERCC6	ENSG00000225830.16	transcript	ENST00000355832.10	protein_coding	8/20			chr10	TogoVar
ERCC6_chr10_49449470_49544121	49526103	ATATTTAT others(7): Show ATATTTATATATTTT	A A	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0089 a0002c0002t0004g0089	1	388	0.0026	-14	c.653 others(31): Show c.653-1340_653-1327delAAAATATATAAATA	ERCC6	ENSG00000225830.16	transcript	ENST00000355832.10	protein_coding	4/20			chr10	TogoVar
ERCC6_chr10_49449470_49544121	49526115	TTTTATAT others(7): Show TTTTATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG03209.hp2 NA20129.hp1 others(1): Show HG02896.hp2 HG03209.hp2 NA20129.hp1 NA20300.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0011 a0001c0004t0011	a0001c0004t0011g0024 a0001c0004t0011g0116 a0001c0004t0011g0237 a0001c0004t0011g0024 a0001c0004t0011g0116 a0001c0004t0011g0237	4	388	0.0103	-14	c.653 others(31): Show c.653-1352_653-1339delTATATATATATAAA	ERCC6	ENSG00000225830.16	transcript	ENST00000355832.10	protein_coding	4/20			chr10	TogoVar
ERCC6_chr10_49449470_49544121	49526117	TTATATAT others(7): Show TTATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0254 a0001c0004t0001g0254	1	388	0.0026	-14	c.653 others(31): Show c.653-1354_653-1341delTATATATATATATA	ERCC6	ENSG00000225830.16	transcript	ENST00000355832.10	protein_coding	4/20			chr10	TogoVar
ERCC6_chr10_49510198_49544121	49526103	ATATTTAT others(7): Show ATATTTATATATTTT	A A	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0084 a0002c0002t0002g0084	1	402	0.0025	-14	c.653 others(31): Show c.653-1340_653-1327delAAAATATATAAATA	ERCC6	ENSG00000225830.16	transcript	ENST00000447839.7	protein_coding	4/5			chr10	TogoVar
ERCC6_chr10_49510198_49544121	49526115	TTTTATAT others(7): Show TTTTATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG03209.hp1 NA20129.hp2 others(1): Show HG02896.hp1 HG03209.hp1 NA20129.hp2 NA20300.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0024 a0001c0004t0001g0099 a0001c0004t0001g0024 a0001c0004t0001g0099	4	402	0.0100	-14	c.653 others(31): Show c.653-1352_653-1339delTATATATATATAAA	ERCC6	ENSG00000225830.16	transcript	ENST00000447839.7	protein_coding	4/5			chr10	TogoVar
ERCC6_chr10_49510198_49544121	49526117	TTATATAT others(7): Show TTATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0175 a0001c0004t0001g0175	1	402	0.0025	-14	c.653 others(31): Show c.653-1354_653-1341delTATATATATATATA	ERCC6	ENSG00000225830.16	transcript	ENST00000447839.7	protein_coding	4/5			chr10	TogoVar
ERCC8_chr5_60861454_60950070	60870482	TAAAAAAA others(7): Show TAAAAAAAAAAAAAA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00140.hp1 HG00642.hp2 HG00738.hp1 others(18): Show HG00140.hp1 HG00642.hp2 HG00738.hp1 HG01069.hp1 HG01099.hp1 HG01168.hp2 HG01175.hp2 HG01346.hp1 HG01358.hp2 HG01433.hp2 HG01516.hp1 HG01952.hp2 HG02145.hp2 HG02257.hp1 HG02683.hp2 HG02809.hp2 HG02895.hp2 HG02896.hp1 HG04115.hp2 NA20300.hp1 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0008 a0001c0002 a0002c0008	a0001c0002t0008 a0001c0002t0016 a0001c0002t0017 others(4): Show a0001c0002t0008 a0001c0002t0016 a0001c0002t0017 a0001c0002t0033 a0001c0002t0055 a0001c0002t0056 a0002c0008t0008	a0001c0002t0008g0046 a0001c0002t0008g0047 a0001c0002t0008g0065 others(18): Show a0001c0002t0008g0046 a0001c0002t0008g0047 a0001c0002t0008g0065 a0001c0002t0008g0068 a0001c0002t0008g0073 a0001c0002t0008g0075 a0001c0002t0008g0079 a0001c0002t0008g0080 a0001c0002t0016g0064 a0001c0002t0016g0069 a0001c0002t0016g0070 a0001c0002t0016g0082 a0001c0002t0017g0045 a0001c0002t0017g0072 a0001c0002t0017g0074 a0001c0002t0017g0078 a0001c0002t0033g0048 a0001c0002t0033g0071 a0001c0002t0055g0081 a0001c0002t0056g0077 a0002c0008t0008g0076	21	302	0.0695	-14	c.41 others(25): Show c.4119_*4132delTTTTTTTTTTTTTT	ERCC8	ENSG00000049167.16	transcript	ENST00000676185.1	protein_coding	12/12	4119		chr5	TogoVar
ERCC8_chr5_60861454_60950070	60904628	GTGTGTGT others(7): Show GTGTGTGTATATATA	G G	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02132.hp1 HG02135.hp1 others(7): Show HG00673.hp1 HG02132.hp1 HG02135.hp1 HG02647.hp1 HG02717.hp2 HG03225.hp1 NA18906.hp1 NA19090.hp1 NA19090.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 a0001c0001t0020 a0001c0001t0022 a0001c0001t0023 a0001c0001t0062 a0001c0005t0020	a0001c0001t0001g0098 a0001c0001t0001g0139 a0001c0001t0003g0177 others(6): Show a0001c0001t0001g0098 a0001c0001t0001g0139 a0001c0001t0003g0177 a0001c0001t0011g0111 a0001c0001t0020g0108 a0001c0001t0022g0288 a0001c0001t0023g0285 a0001c0001t0062g0101 a0001c0005t0020g0004	10	302	0.0331	-14	c.481 others(29): Show c.481+150_481+163delTATATATACACACA	ERCC8	ENSG00000049167.16	transcript	ENST00000676185.1	protein_coding	5/11			chr5	TogoVar
ERCC8_chr5_60861454_60950070	60904634	GTATATAT others(7): Show GTATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01099.hp1 HG01358.hp2 others(2): Show HG00140.hp1 HG01099.hp1 HG01358.hp2 HG02896.hp1 HG04115.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0008 a0001c0002 a0002c0008	a0001c0002t0008 a0001c0002t0016 a0001c0002t0017 others(2): Show a0001c0002t0008 a0001c0002t0016 a0001c0002t0017 a0001c0002t0055 a0002c0008t0008	a0001c0002t0008g0080 a0001c0002t0016g0069 a0001c0002t0017g0045 others(2): Show a0001c0002t0008g0080 a0001c0002t0016g0069 a0001c0002t0017g0045 a0001c0002t0055g0081 a0002c0008t0008g0076	5	302	0.0166	-14	c.481 others(29): Show c.481+144_481+157delTATATATATATATA	ERCC8	ENSG00000049167.16	transcript	ENST00000676185.1	protein_coding	5/11			chr5	TogoVar
ERCC8_chr5_60861454_60950070	60938040	CATACATA others(7): Show CATACATACATATAT	C C	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG03490.hp2 HG03654.hp1 others(1): Show HG01361.hp1 HG03490.hp2 HG03654.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0042 a0001c0001t0061 a0001c0001t0002 a0001c0001t0042 a0001c0001t0061	a0001c0001t0002g0203 a0001c0001t0042g0023 a0001c0001t0042g0037 others(1): Show a0001c0001t0002g0203 a0001c0001t0042g0023 a0001c0001t0042g0037 a0001c0001t0061g0096	4	302	0.0133	-14	c.77+ others(29): Show c.77+6878_77+6891delATATATGTATGTAT	ERCC8	ENSG00000049167.16	transcript	ENST00000676185.1	protein_coding	1/11			chr5	TogoVar
ERCC8_chr5_60861454_60950070	60938044	CATACATA others(7): Show CATACATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0178 a0001c0002t0006g0178	1	302	0.0033	-14	c.77+ others(29): Show c.77+6874_77+6887delATATATATATGTAT	ERCC8	ENSG00000049167.16	transcript	ENST00000676185.1	protein_coding	1/11			chr5	TogoVar
EREG_chr4_74360145_74393749	74378771	CAAAATTT others(7): Show CAAAATTTTATCTTT	C C	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	358	0.0028	-14	c.68- others(27): Show c.68-676_68-663delAAAATTTTATCTTT	EREG	ENSG00000124882.4	transcript	ENST00000244869.3	protein_coding	1/4			chr4	TogoVar
ERFL_chr19_41902704_41933449	41903765	CTATGCTG others(7): Show CTATGCTGAGCGAGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0263 a0001c0001t0003g0263	1	330	0.0030	-14	c.44 others(25): Show c.4449_*4462delACTCGCTCAGCATA	ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding		3938		chr19	TogoVar
ERFL_chr19_41902704_41933449	41918760	TACATCTA others(7): Show TACATCTACCACACA	T T	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0218 a0001c0001t0003g0218	1	330	0.0030	-14	c.-13 others(31): Show c.-13-5842_-13-5829delTGTGTGGTAGATGT	ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	1/5			chr19	TogoVar
ERFL_chr19_41902704_41933449	41926956	GAGATAGA others(7): Show GAGATAGAAAGAGAT	G G	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0281 a0001c0001t0003g0281	1	330	0.0030	-14	c.-14 others(31): Show c.-14+1070_-14+1083delATCTCTTTCTATCT	ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	1/5			chr19	TogoVar
ERF_chr19_42242569_42260128	42251442	TGGGGTGG others(7): Show TGGGGTGGGGGGTGG	T T	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA19010.hp1 NA18971.hp2 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0034 a0001c0001t0004g0033 a0001c0001t0003g0034 a0001c0001t0004g0033	2	268	0.0075	-14	c.23- others(27): Show c.23-891_23-878delCCACCCCCCACCCC	ERF	ENSG00000105722.10	transcript	ENST00000222329.9	protein_coding	1/3			chr19	TogoVar
ERG28_chr14_75644791_75665876	75645033	GGTGTGTG others(7): Show GGTGTGTGTGTGTGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG02615.hp2 HG02895.hp2 others(5): Show HG01891.hp1 HG02615.hp2 HG02895.hp2 HG02897.hp1 HG02976.hp1 HG03130.hp1 HG03139.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0021 a0001c0001t0004g0041 a0001c0001t0004g0078 others(1): Show a0001c0001t0004g0021 a0001c0001t0004g0041 a0001c0001t0004g0078 a0001c0001t0004g0079	8	420	0.0191	-14	c.65 others(25): Show c.6508_*6521delACACACACACACAC	ERG28	ENSG00000133935.7	transcript	ENST00000256319.7	protein_coding		4757		chr14	TogoVar
ERG28_chr14_75644791_75665876	75656279	AACACACA others(7): Show AACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02615.hp2 HG02886.hp2 others(6): Show HG01891.hp1 HG02615.hp2 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG02976.hp1 HG03130.hp1 HG03139.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0073 a0001c0001t0004g0021 a0001c0001t0004g0041 others(2): Show a0001c0001t0002g0073 a0001c0001t0004g0021 a0001c0001t0004g0041 a0001c0001t0004g0078 a0001c0001t0004g0079	9	420	0.0214	-14	c.133 others(31): Show c.133+1077_133+1090delGTGTGTGTGTGTGT	ERG28	ENSG00000133935.7	transcript	ENST00000256319.7	protein_coding	2/4			chr14	TogoVar
ERG28_chr14_75644791_75665876	75656311	CACACACA others(7): Show CACACACACACACAT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02630.hp2 HG03195.hp1 HG02622.hp2 HG02630.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0085 a0001c0001t0001g0042 a0001c0001t0001g0085	3	420	0.0071	-14	c.133 others(31): Show c.133+1045_133+1058delATGTGTGTGTGTGT	ERG28	ENSG00000133935.7	transcript	ENST00000256319.7	protein_coding	2/4			chr14	TogoVar
ERGIC2_chr12_29332352_29386172	29367164	TTTTTTCT others(7): Show TTTTTTCTTACCCAG	T T	intron_variant intron_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0097 a0001c0002t0017g0097	1	404	0.0025	-14	c.263 others(29): Show c.263-231_263-218delCTGGGTAAGAAAAA	ERGIC2	ENSG00000087502.19	transcript	ENST00000360150.9	protein_coding	4/13			chr12	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)