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
EHMT1_chr9_137614005_137841127	137836573	G G	GCCCCCCC others(21): Show GCCCCCCCGGGTACCCCCCCCCTACCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0117 a0001c0005t0001g0117	1	170	0.0059	28	c.16 others(39): Show c.1620_*1621insCCCCCCCGGGTACCCCCCCCCTACCCTC	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding		447		chr9	TogoVar
EIF2AK1_chr7_6017247_6064175	6045733	T T	TTATATAT others(21): Show TTATATATACATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02165.hp1 NA18962.hp1 others(1): Show HG02083.hp1 HG02165.hp1 NA18962.hp1 NA19011.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0012 a0002c0003t0001g0277 a0002c0003t0001g0284 a0002c0003t0001g0012 a0002c0003t0001g0277 a0002c0003t0001g0284	4	418	0.0096	28	c.630 others(43): Show c.630+337_630+338insTATATATATATATATATATGTATATATA	EIF2AK1	ENSG00000086232.13	transcript	ENST00000199389.11	protein_coding	6/14			chr7	TogoVar
EIF2AK1_chr7_6017247_6064175	6045733	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02602.hp2 HG04184.hp1 others(3): Show HG02056.hp2 HG02602.hp2 HG04184.hp1 NA18963.hp1 NA18999.hp2 NA19090.hp2	a0002 a0008 a0002 a0008	a0002c0003 a0008c0011 a0002c0003 a0008c0011	a0002c0003t0001 a0002c0003t0012 a0008c0011t0024 a0002c0003t0001 a0002c0003t0012 a0008c0011t0024	a0002c0003t0001g0106 a0002c0003t0001g0236 a0002c0003t0001g0241 others(3): Show a0002c0003t0001g0106 a0002c0003t0001g0236 a0002c0003t0001g0241 a0002c0003t0001g0263 a0002c0003t0012g0261 a0008c0011t0024g0283	6	418	0.0144	28	c.630 others(43): Show c.630+337_630+338insTATATATATATATATATATATATATATA	EIF2AK1	ENSG00000086232.13	transcript	ENST00000199389.11	protein_coding	6/14			chr7	TogoVar
EIF2AK1_chr7_6017247_6064175	6056613	A A	AAAAAAAA others(21): Show AAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02040.hp1 HG02027.hp2 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0034 a0001c0001t0002g0117 a0001c0001t0002g0034 a0001c0001t0002g0117	2	418	0.0048	28	c.119 others(45): Show c.119-1910_119-1909insATATATATATATATATTTTTTTTTTTTT	EIF2AK1	ENSG00000086232.13	transcript	ENST00000199389.11	protein_coding	1/14			chr7	TogoVar
EIF2AK4_chr15_39929115_40040591	40017551	A A	ATATATAT others(21): Show ATATATATATATATATATATATGTATATG	intron_variant intron_variant	MODIFIER	HG02145.hp1 NA18971.hp2 HG02145.hp1 NA18971.hp2	a0003 a0011 a0003 a0011	a0003c0003 a0011c0017 a0003c0003 a0011c0017	a0003c0003t0002 a0011c0017t0002 a0003c0003t0002 a0011c0017t0002	a0003c0003t0002g0082 a0011c0017t0002g0240 a0003c0003t0002g0082 a0011c0017t0002g0240	2	368	0.0054	28	c.406 others(45): Show c.4065+312_4065+313insATATATATATATATATATGTATATGTAT	EIF2AK4	ENSG00000128829.12	transcript	ENST00000263791.10	protein_coding	29/38		INFO_REALIGN_3_PRIME	chr15	TogoVar
EIF2AK4_chr15_39929115_40040591	40017551	A A	ATATATAT others(21): Show ATATATATATATATATATATGTATGTATG	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0008 a0008	a0008c0015 a0008c0015	a0008c0015t0005 a0008c0015t0005	a0008c0015t0005g0026 a0008c0015t0005g0026	1	368	0.0027	28	c.406 others(45): Show c.4065+312_4065+313insATATATATATATATATGTATGTATGTAT	EIF2AK4	ENSG00000128829.12	transcript	ENST00000263791.10	protein_coding	29/38		INFO_REALIGN_3_PRIME	chr15	TogoVar
EIF2B3_chr1_44845522_44991595	44951954	A A	ATTTTTTT others(21): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03704.hp2 NA18747.hp1 HG03704.hp2 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0054 a0001c0001t0002g0062 a0001c0001t0002g0054 a0001c0001t0002g0062	2	322	0.0062	28	c.295 others(47): Show c.295-10290_295-10289insAAAAAAAAAAAAAAAAAAAAAAAAAA AA	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	3/11			chr1	TogoVar
EIF2B3_chr1_44845522_44991595	44984797	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01069.hp1 HG01175.hp1 others(3): Show HG00621.hp1 HG01069.hp1 HG01175.hp1 HG02523.hp1 HG03704.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0062 a0001c0001t0002g0063 others(3): Show a0001c0001t0002g0004 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066	6	322	0.0186	28	c.-10 others(45): Show c.-10+1695_-10+1696insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	1/11			chr1	TogoVar
EIF2D_chr1_206586642_206617465	206593508	A A	AGAGAGAG others(21): Show AGAGAGAGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0070 a0001c0003t0001g0070	1	426	0.0024	28	c.168 others(45): Show c.1684+110_1684+111insACACACACACACACACACACACTCTCTC	EIF2D	ENSG00000143486.16	transcript	ENST00000271764.7	protein_coding	14/14			chr1	TogoVar
EIF3A_chr10_119028670_119085817	119052366	T T	TTGTGTGT others(21): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0051 a0001c0005t0002g0051	1	350	0.0029	28	c.219 others(47): Show c.2197-1046_2197-1045insCACACACACACACACACACACACACA CA	EIF3A	ENSG00000107581.14	transcript	ENST00000369144.8	protein_coding	14/21			chr10	TogoVar
EIF3A_chr10_119028670_119085817	119052368	T T	TTGTGTGT others(21): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0098 a0001c0001t0002g0098	1	350	0.0029	28	c.219 others(47): Show c.2197-1075_2197-1048dupCACACACACACACACACACACACACA CA	EIF3A	ENSG00000107581.14	transcript	ENST00000369144.8	protein_coding	14/21			chr10	TogoVar
EIF3E_chr8_108196216_108253717	108201250	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02559.hp2 HG03225.hp1 HG03453.hp2 others(1): Show HG02559.hp2 HG03225.hp1 HG03453.hp2 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0024 a0001c0001t0014g0039 a0001c0001t0014g0184 others(1): Show a0001c0001t0014g0024 a0001c0001t0014g0039 a0001c0001t0014g0184 a0001c0001t0014g0196	4	348	0.0115	28	c.63 others(37): Show c.634_*635insATATATATATATATATATATATATATAT	EIF3E	ENSG00000104408.11	transcript	ENST00000220849.10	protein_coding	13/13	634		chr8	TogoVar
EIF3H_chr8_116637130_116760823	116653348	A A	AACACACA others(21): Show AACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01361.hp1 HG01934.hp2 others(5): Show HG01192.hp2 HG01361.hp1 HG01934.hp2 HG01943.hp2 HG02055.hp2 HG03239.hp2 NA18952.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0010 a0001c0001t0004 a0001c0001t0010	a0001c0001t0004g0159 a0001c0001t0004g0165 a0001c0001t0004g0168 others(5): Show a0001c0001t0004g0159 a0001c0001t0004g0165 a0001c0001t0004g0168 a0001c0001t0004g0169 a0001c0001t0004g0172 a0001c0001t0004g0174 a0001c0001t0004g0182 a0001c0001t0010g0247	8	336	0.0238	28	c.707 others(45): Show c.707+2507_707+2508insGTGTGTGTGTGTGTGTGTGTGTGTGTGT	EIF3H	ENSG00000147677.12	transcript	ENST00000521861.6	protein_coding	5/7			chr8	TogoVar
EIF3K_chr19_38614188_38641954	38637325	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG03139.hp2 HG02559.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	2	400	0.0050	28	c.40 others(37): Show c.405_*406insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	EIF3K	ENSG00000178982.10	transcript	ENST00000248342.9	protein_coding		372		chr19	TogoVar
EIF3L_chr22_37844419_37894407	37868634	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01517.hp2 HG02572.hp2 HG01346.hp2 HG01517.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0247 a0001c0001t0001g0267 a0001c0001t0001g0234 a0001c0001t0001g0247 a0001c0001t0001g0267	3	318	0.0094	28	c.580 others(45): Show c.580-1517_580-1516insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	EIF3L	ENSG00000100129.18	transcript	ENST00000652021.1	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
EIF4A1_chr17_7567825_7584006	7571900	T T	TATATATA others(21): Show TATATATATATATATATATATATATATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0003 a0001c0003t0002g0003	1	436	0.0023	28	c.-94 others(37): Show c.-942_-941insATATATATATATATATATATATATATAA	EIF4A1	ENSG00000161960.16	transcript	ENST00000293831.13	protein_coding		924		chr17	TogoVar
EIF4B_chr12_53001456_53047215	53027136	A A	ATTTTTTT others(21): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	372	0.0027	28	c.668 others(43): Show c.668-646_668-645insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	EIF4B	ENSG00000063046.18	transcript	ENST00000262056.14	protein_coding	6/14			chr12	TogoVar
EIF4B_chr12_53001456_53047215	53030413	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02165.hp2 NA18978.hp2 NA18982.hp2 others(1): Show HG02165.hp2 NA18978.hp2 NA18982.hp2 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0039 a0001c0001t0001g0073 others(1): Show a0001c0001t0001g0021 a0001c0001t0001g0039 a0001c0001t0001g0073 a0001c0001t0001g0255	4	372	0.0108	28	c.979 others(45): Show c.979+2250_979+2251insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	EIF4B	ENSG00000063046.18	transcript	ENST00000262056.14	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
EIF4ENIF1_chr22_31434367_31494842	31464699	A A	AAAAAAAA others(21): Show AAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	366	0.0027	28	c.299 others(43): Show c.299-733_299-732insATATATATATATATATATTTTTTTTTTT	EIF4ENIF1	ENSG00000184708.18	transcript	ENST00000330125.10	protein_coding	4/18			chr22	TogoVar
EIF4ENIF1_chr22_31434367_31494842	31464699	A A	AAAAAAAA others(21): Show AAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0139 a0001c0003t0001g0139	1	366	0.0027	28	c.299 others(43): Show c.299-733_299-732insATATATATATATATATATATTTTTTTTT	EIF4ENIF1	ENSG00000184708.18	transcript	ENST00000330125.10	protein_coding	4/18			chr22	TogoVar
EIF4G3_chr1_20801479_21181897	20943967	A A	AGTGTGTG others(21): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0246 a0001c0001t0003g0246	1	312	0.0032	28	c.824 others(45): Show c.824-1638_824-1637insACACACACACACACACACACACACACAC	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	13/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	21117736	T T	TAAAAAAA others(21): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	312	0.0032	28	c.-27 others(49): Show c.-271-28524_-271-28523insTTTTTTTTTTTTTTTTTTTTTTTT TTTT	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	2/36			chr1	TogoVar
EIF5AL1_chr10_79507533_79521440	79513475	T T	TAAAAAAA others(21): Show TAAAAAAAAAAAAAGACTAAAGCACAAGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0000 a0001c0001t0046g0000	1	430	0.0023	28	c.36 others(37): Show c.361_*362insAAAAAAAAAAAAAGACTAAAGCACAAGC	EIF5AL1	ENSG00000253626.4	transcript	ENST00000520547.4	protein_coding	1/1	362		chr10	TogoVar
EIF5B_chr2_99332389_99406326	99338993	A A	AATATATA others(21): Show AATATATATATACAAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0299 a0001c0005t0002g0299	1	342	0.0029	28	c.35+ others(43): Show c.35+1417_35+1418insAATATATATATATATATATATATATACA	EIF5B	ENSG00000158417.12	transcript	ENST00000289371.11	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
EIPR1_chr2_3183970_3382818	3247028	C C	CGAGGGAG others(21): Show CGAGGGAGGGAGAGAGCGAGGGAGGGAGA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG03225.hp2 homoSapiens_chm13v2.hp1 HG00741.hp1 HG03225.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0017 a0001c0001t0003g0070 a0001c0001t0003g0075 a0001c0001t0001g0017 a0001c0001t0003g0070 a0001c0001t0003g0075	3	250	0.0120	28	c.416 others(47): Show c.416+10270_416+10271insTCTCCCTCCCTCGCTCTCTCCCTCCC TC	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	4/8			chr2	TogoVar
ELAPOR1_chr1_109109115_109211781	109183590	T T	TTTCTTCC others(21): Show TTTCTTCCTTCCTTCCTTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00438.hp1 HG00438.hp2 others(73): Show HG00099.hp1 HG00438.hp1 HG00438.hp2 HG00639.hp2 HG00733.hp1 HG00738.hp2 HG01070.hp2 HG01074.hp1 HG01099.hp1 HG01106.hp1 HG01167.hp1 HG01261.hp2 HG01346.hp2 HG01884.hp2 HG01993.hp2 HG02015.hp1 HG02071.hp2 HG02083.hp2 HG02109.hp2 HG02145.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02300.hp1 HG02486.hp1 HG02622.hp1 HG02717.hp2 HG02735.hp2 HG02809.hp1 HG02895.hp1 HG02897.hp1 HG02965.hp1 HG03098.hp1 HG03130.hp2 HG03209.hp1 HG03471.hp1 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG04115.hp1 HG04115.hp2 NA18948.hp1 NA18948.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp2 NA18960.hp2 NA18962.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp2 NA18977.hp2 NA18982.hp2 NA18983.hp1 NA18984.hp2 NA18986.hp1 NA18989.hp1 NA18989.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19043.hp1 NA19058.hp2 NA19060.hp1 NA19063.hp2 NA19074.hp1 NA19074.hp2 NA19081.hp2 NA19083.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0006 a0007	a0001c0001 a0001c0002 a0001c0024 others(6): Show a0001c0001 a0001c0002 a0001c0024 a0001c0025 a0002c0003 a0004c0008 a0004c0011 a0006c0033 a0007c0036	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0013 a0001c0001t0014 a0001c0001t0020 a0001c0001t0021 a0001c0001t0036 a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0002t0010 a0001c0002t0013 a0001c0002t0014 a0001c0002t0035 a0001c0002t0038 a0001c0024t0001 a0001c0025t0037 a0002c0003t0003 a0002c0003t0023 a0004c0008t0009 a0004c0008t0041 a0004c0011t0009 a0006c0033t0014 a0007c0036t0003	a0001c0001t0001g0006 a0001c0001t0001g0020 a0001c0001t0001g0042 others(73): Show a0001c0001t0001g0006 a0001c0001t0001g0020 a0001c0001t0001g0042 a0001c0001t0001g0056 a0001c0001t0001g0073 a0001c0001t0001g0104 a0001c0001t0001g0110 a0001c0001t0001g0114 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0229 a0001c0001t0002g0040 a0001c0001t0003g0030 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0041 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0046 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0118 a0001c0001t0005g0013 a0001c0001t0005g0057 a0001c0001t0013g0103 a0001c0001t0014g0203 a0001c0001t0020g0117 a0001c0001t0020g0128 a0001c0001t0021g0099 a0001c0001t0021g0107 a0001c0001t0036g0063 a0001c0002t0001g0137 a0001c0002t0001g0152 a0001c0002t0001g0158 a0001c0002t0001g0176 a0001c0002t0001g0181 a0001c0002t0001g0199 a0001c0002t0001g0215 a0001c0002t0001g0220 a0001c0002t0001g0223 a0001c0002t0001g0224 a0001c0002t0001g0228 a0001c0002t0003g0139 a0001c0002t0003g0145 a0001c0002t0003g0153 a0001c0002t0003g0167 a0001c0002t0003g0182 a0001c0002t0003g0196 a0001c0002t0003g0201 a0001c0002t0005g0190 a0001c0002t0010g0211 a0001c0002t0013g0219 a0001c0002t0014g0159 a0001c0002t0035g0161 a0001c0002t0038g0144 a0001c0024t0001g0096 a0001c0025t0037g0102 a0002c0003t0003g0079 a0002c0003t0003g0086 a0002c0003t0023g0213 a0004c0008t0009g0065 a0004c0008t0009g0125 a0004c0008t0009g0126 a0004c0008t0009g0129 a0004c0008t0041g0059 a0004c0011t0009g0163 a0006c0033t0014g0200 a0007c0036t0003g0162	76	230	0.3304	28	c.953 others(45): Show c.953-1454_953-1453insTCTTCCTTCCTTCCTTCCCTCCCTCCCT	ELAPOR1	ENSG00000116299.17	transcript	ENST00000369939.8	protein_coding	7/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
ELAVL1_chr19_7953573_8010641	7957388	A A	AGAAAGAA others(21): Show AGAAAGAAAGAAAGAAAGAAAGAAGGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0178 a0001c0001t0002g0178	1	276	0.0036	28	c.60 others(39): Show c.6094_*6095insCTTCCTTCTTTCTTTCTTTCTTTCTTTC	ELAVL1	ENSG00000066044.15	transcript	ENST00000407627.7	protein_coding		1184		chr19	TogoVar
ELAVL1_chr19_7953573_8010641	7957388	A A	AGAAAGAA others(21): Show AGAAAGAAAGAAAGAAAGAAGGAAGGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 homoSapiens_chm13v2.hp1 HG02717.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0166 a0001c0001t0002g0191 a0001c0001t0002g0166 a0001c0001t0002g0191	2	276	0.0073	28	c.60 others(39): Show c.6094_*6095insCTTCCTTCCTTCTTTCTTTCTTTCTTTC	ELAVL1	ENSG00000066044.15	transcript	ENST00000407627.7	protein_coding		1184		chr19	TogoVar
ELAVL1_chr19_7953573_8010641	7957388	A A	AGAAAGAA others(21): Show AGAAAGAAGGAAGGAAGGAAGGAAGGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02723.hp1 HG02257.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0201 a0001c0001t0006g0202 a0001c0001t0006g0201 a0001c0001t0006g0202	2	276	0.0073	28	c.60 others(39): Show c.6094_*6095insCTTCCTTCCTTCCTTCCTTCCTTCTTTC	ELAVL1	ENSG00000066044.15	transcript	ENST00000407627.7	protein_coding		1184		chr19	TogoVar
ELAVL1_chr19_7953573_8010641	7957429	G G	GAAGGAAG others(21): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0159 a0001c0001t0006g0159	1	276	0.0036	28	c.60 others(39): Show c.6053_*6054insTCTTCCTTCCTTCCTTCCTTCCTTCCTT	ELAVL1	ENSG00000066044.15	transcript	ENST00000407627.7	protein_coding		1143		chr19	TogoVar
ELAVL1_chr19_7953573_8010641	7961303	G G	GCCTTCCA others(21): Show GCCTTCCATCAGAAGGGTGTTGGCTCCCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03471.hp1 HG03579.hp1 NA20752.hp1 HG03471.hp1 HG03579.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0036 a0001c0001t0018 a0001c0001t0036	a0001c0001t0018g0039 a0001c0001t0018g0119 a0001c0001t0036g0040 a0001c0001t0018g0039 a0001c0001t0018g0119 a0001c0001t0036g0040	3	276	0.0109	28	c.21 others(39): Show c.2152_*2179dupTGGGAGCCAACACCCTTCTGATGGAAGG	ELAVL1	ENSG00000066044.15	transcript	ENST00000407627.7	protein_coding	6/6	2179		chr19	TogoVar
ELAVL2_chr9_23685104_23831240	23735105	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG03041.hp2 HG03654.hp1 others(2): Show HG02083.hp1 HG03041.hp2 HG03654.hp1 HG03688.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0023 a0001c0001t0001 a0001c0001t0023	a0001c0001t0001g0138 a0001c0001t0001g0196 a0001c0001t0001g0198 others(2): Show a0001c0001t0001g0138 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0023g0352	5	352	0.0142	28	c.230 others(45): Show c.230-3981_230-3980insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ELAVL2	ENSG00000107105.15	transcript	ENST00000397312.7	protein_coding	2/6			chr9	TogoVar
ELAVL2_chr9_23685104_23831240	23759754	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00609.hp2 NA19062.hp2 HG00609.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0079 a0001c0002t0002g0027 a0001c0001t0001g0079 a0001c0002t0002g0027	2	352	0.0057	28	c.229 others(45): Show c.229+2224_229+2251dupTATATATATATATATATATATATATATA	ELAVL2	ENSG00000107105.15	transcript	ENST00000397312.7	protein_coding	2/6			chr9	TogoVar
ELAVL3_chr19_11446326_11486046	11464123	G G	GTCTCTCT others(21): Show GTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0038 a0001c0004t0038	a0001c0004t0038g0014 a0001c0004t0038g0014	1	318	0.0031	28	c.333 others(45): Show c.333+2021_333+2048dupGAGAGAGAGAGAGAGAGAGAGAGAGAGA	ELAVL3	ENSG00000196361.10	transcript	ENST00000359227.8	protein_coding	3/6			chr19	TogoVar
ELAVL3_chr19_11446326_11486046	11464151	C C	CTCTCTCT others(21): Show CTCTCTCTCTCTCTCTCTCTCTCTCTATA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0033 a0001c0004t0033	a0001c0004t0033g0021 a0001c0004t0033g0021	1	318	0.0031	28	c.333 others(45): Show c.333+2020_333+2021insTATAGAGAGAGAGAGAGAGAGAGAGAGA	ELAVL3	ENSG00000196361.10	transcript	ENST00000359227.8	protein_coding	3/6			chr19	TogoVar
ELK3_chr12_96189375_96274824	96271489	C C	CTGTGTGT others(21): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0305 a0001c0001t0004g0305	1	354	0.0028	28	c.43 others(39): Show c.4309_*4310insTGTGTGTGTGTGTGTGTGTGTGTGTGTG	ELK3	ENSG00000111145.8	transcript	ENST00000228741.8	protein_coding		1666		chr12	TogoVar
ELL2_chr5_95880098_95966851	95907296	A A	ATATATAT others(21): Show ATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0018 a0001c0003t0007g0018	1	314	0.0032	28	c.482 others(43): Show c.482-515_482-514insAAAAAAAATATATATATATATATATATA	ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	4/11			chr5	TogoVar
ELL2_chr5_95880098_95966851	95907296	A A	ATATATAT others(21): Show ATATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0010 a0001c0005t0010	a0001c0005t0010g0050 a0001c0005t0010g0050	1	314	0.0032	28	c.482 others(43): Show c.482-515_482-514insAAAAAAAAAAAAAAAATATATATATATA	ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	4/11			chr5	TogoVar
ELL2_chr5_95880098_95966851	95927400	T T	TACACACA others(21): Show TACACACACACGTGTGTATATAGACATAC	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0291 a0001c0001t0002g0291	1	314	0.0032	28	c.196 others(45): Show c.196-7856_196-7855insGTATGTCTATATACACACGTGTGTGTGT	ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	2/11			chr5	TogoVar
ELL2_chr5_95880098_95966851	95927476	T T	TACACACA others(21): Show TACACACACACGTGTGTATATAGACATAC	intron_variant intron_variant	MODIFIER	HG04228.hp2 NA19006.hp2 HG04228.hp2 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0264 a0001c0001t0002g0294 a0001c0001t0002g0264 a0001c0001t0002g0294	2	314	0.0064	28	c.196 others(45): Show c.196-7932_196-7931insGTATGTCTATATACACACGTGTGTGTGT	ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	2/11			chr5	TogoVar
ELL2_chr5_95880098_95966851	95927522	C C	CACACACA others(21): Show CACACACACACACGTGTGTATATAGACAT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0217 a0001c0001t0002g0217	1	314	0.0032	28	c.196 others(45): Show c.196-7978_196-7977insATGTCTATATACACACGTGTGTGTGTGT	ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	2/11			chr5	TogoVar
ELL2_chr5_95880098_95966851	95927688	C C	CGTGTGTA others(21): Show CGTGTGTATATAGACATACACACACATAT	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0257 a0001c0001t0002g0257	1	314	0.0032	28	c.196 others(45): Show c.196-8144_196-8143insATATGTGTGTGTATGTCTATATACACAC	ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	2/11			chr5	TogoVar
ELL_chr19_18437663_18527070	18454840	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01952.hp2 NA18975.hp2 others(1): Show HG01167.hp1 HG01952.hp2 NA18975.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0199 others(1): Show a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0199 a0001c0001t0001g0206	4	244	0.0164	28	c.870 others(45): Show c.870-3193_870-3192insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ELL	ENSG00000105656.13	transcript	ENST00000262809.9	protein_coding	6/11			chr19	TogoVar
ELL_chr19_18437663_18527070	18462366	T T	TGTGTGTG others(21): Show TGTGTGTGTGTGTGTGTTTGGGCGGGGGG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0140 a0002c0002t0001g0140	1	244	0.0041	28	c.470 others(43): Show c.470-515_470-514insCCCCCCGCCCAAACACACACACACACAC	ELL	ENSG00000105656.13	transcript	ENST00000262809.9	protein_coding	4/11			chr19	TogoVar
ELMO1_chr7_36847906_37453864	36897336	G G	GTGTGTGT others(21): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0012 a0001c0001t0017g0012	1	92	0.0109	28	c.143 others(47): Show c.1438-2320_1438-2319insTACACACACACACACACACACACACA CA	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	16/21			chr7	TogoVar
ELMO1_chr7_36847906_37453864	37161905	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02080.hp2 HG02109.hp2 others(3): Show HG01358.hp2 HG02080.hp2 HG02109.hp2 HG02895.hp1 NA19000.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0001c0002t0003 a0001c0004t0002	a0001c0001t0001g0022 a0001c0001t0002g0002 a0001c0001t0004g0080 others(3): Show a0001c0001t0001g0022 a0001c0001t0002g0002 a0001c0001t0004g0080 a0001c0002t0001g0081 a0001c0002t0003g0032 a0001c0004t0002g0086	6	92	0.0652	28	c.108 others(49): Show c.1087-28699_1087-28672dupATATATATATATATATATATATAT ATAT	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	13/21			chr7	TogoVar
ELMO1_chr7_36847906_37453864	37246773	C C	CAGATAGA others(21): Show CAGATAGATAGATAGATAGATAGATAGAT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0019 a0001c0001t0002g0019	1	92	0.0109	28	c.414 others(45): Show c.414-2383_414-2382insATCTATCTATCTATCTATCTATCTATCT	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	6/21			chr7	TogoVar
ELMO1_chr7_36847906_37453864	37417683	C C	CACACACA others(21): Show CACACACACACACACACACACACACACAA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0006 a0001c0001t0005g0006	1	92	0.0109	28	c.-74 others(47): Show c.-74+30991_-74+30992insTTGTGTGTGTGTGTGTGTGTGTGTGT GT	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	1/21			chr7	TogoVar
ELMO2_chr20_46361050_46411615	46411193	G G	GGGCGGTG others(21): Show GGGCGGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	312	0.0032	28	c.-47 others(39): Show c.-4772_-4771insACACACACACACACACACACACACCGCC	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding		4579		chr20	TogoVar
ELMO2_chr20_46361050_46411615	46411193	G G	GGGGCGGG others(21): Show GGGGCGGGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp2 HG03492.hp2 HG01175.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0006 a0001c0001t0003g0062 a0001c0001t0003g0006 a0001c0001t0003g0062	2	312	0.0064	28	c.-47 others(39): Show c.-4772_-4771insACACACACACACACACACACACCCGCCC	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding		4579		chr20	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)