Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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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
ZNF48_chr16_30390420_30405108	30403283	G G	GCTGCTGC others(29): Show GCTGCTGCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02280.hp1 HG02698.hp2 others(3): Show HG02258.hp2 HG02280.hp1 HG02698.hp2 HG03540.hp1 HG04228.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0004 a0001c0001 a0001c0003 a0002c0004	a0001c0001t0001 a0001c0003t0001 a0002c0004t0003 a0001c0001t0001 a0001c0003t0001 a0002c0004t0003	a0001c0001t0001g0001 a0001c0003t0001g0001 a0002c0004t0003g0002 a0001c0001t0001g0001 a0001c0003t0001g0001 a0002c0004t0003g0002	6	356	0.0169	36	c.41 others(47): Show c.4176_*4177insCTGCTGCTTCTTCTTCTTCTTCTTCTTCTTCTTC TT	ZNF48	ENSG00000180035.13	transcript	ENST00000613509.2	protein_coding		3176		chr16	TogoVar
ZNF48_chr16_30390420_30405108	30403283	G G	GCTGCTTC others(29): Show GCTGCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0002 a0002c0004t0003g0002	1	356	0.0028	36	c.41 others(47): Show c.4176_*4177insCTGCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TT	ZNF48	ENSG00000180035.13	transcript	ENST00000613509.2	protein_coding		3176		chr16	TogoVar
ZNF48_chr16_30390420_30405108	30403283	G G	GCTTCTTC others(29): Show GCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0003 a0002c0004t0003g0003	1	356	0.0028	36	c.41 others(47): Show c.4176_*4177insCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TT	ZNF48	ENSG00000180035.13	transcript	ENST00000613509.2	protein_coding		3176		chr16	TogoVar
ZNF490_chr19_12571100_12615813	12614892	C C	CTTTTTTT others(29): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0319 a0001c0001t0002g0319	1	366	0.0027	36	c.-42 others(47): Show c.-4213_-4212insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	ZNF490	ENSG00000188033.10	transcript	ENST00000311437.11	protein_coding		4080		chr19	TogoVar
ZNF506_chr19_19787711_19826750	19800391	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0246 a0001c0001t0002g0246	1	418	0.0024	36	c.227 others(53): Show c.227-4732_227-4731insATATATATATATATATATATATATATAT ATATATAT	ZNF506	ENSG00000081665.14	transcript	ENST00000540806.7	protein_coding	3/3			chr19	TogoVar
ZNF506_chr19_19787711_19826750	19800391	A A	AATATATA others(29): Show AATATATATATATATATATTTATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA19054.hp1 NA19085.hp2 NA18972.hp1 NA19054.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0173 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0173	3	418	0.0072	36	c.227 others(53): Show c.227-4732_227-4731insATATATATATATATATAAATATATATAT ATATATAT	ZNF506	ENSG00000081665.14	transcript	ENST00000540806.7	protein_coding	3/3			chr19	TogoVar
ZNF516_chr18_76352682_76500242	76434107	T T	TTACCAGG others(29): Show TTACCAGGAGCGATCCTGCCTGGTCCATGAGATGCCC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02280.hp1 HG02818.hp2 others(2): Show HG00741.hp2 HG02280.hp1 HG02818.hp2 HG03834.hp2 HG04204.hp2	a0002 a0002	a0002c0003 a0002c0009 a0002c0003 a0002c0009	a0002c0003t0020 a0002c0003t0170 a0002c0003t0174 others(2): Show a0002c0003t0020 a0002c0003t0170 a0002c0003t0174 a0002c0009t0034 a0002c0009t0175	a0002c0003t0020g0110 a0002c0003t0170g0109 a0002c0003t0174g0094 others(2): Show a0002c0003t0020g0110 a0002c0003t0170g0109 a0002c0003t0174g0094 a0002c0009t0034g0111 a0002c0009t0175g0013	5	346	0.0145	36	c.181 others(55): Show c.1810+7102_1810+7137dupGGGCATCTCATGGACCAGGCAGGATC GCTCCTGGTA	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF521_chr18_25056924_25357166	25113761	G G	GACGGACA others(29): Show GACGGACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02155.hp1 NA18947.hp2 NA18961.hp2 HG02155.hp1 NA18947.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0134 a0001c0001t0001g0211 a0001c0002t0001g0052 a0001c0001t0001g0134 a0001c0001t0001g0211 a0001c0002t0001g0052	3	216	0.0139	36	c.365 others(57): Show c.3659-21681_3659-21680insGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTCCGT	ZNF521	ENSG00000198795.11	transcript	ENST00000361524.8	protein_coding	5/7			chr18	TogoVar
ZNF521_chr18_25056924_25357166	25113793	C C	CACACACA others(29): Show CACACACACACACACACACACACACACACACACACAG	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	216	0.0046	36	c.365 others(57): Show c.3659-21713_3659-21712insCTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGT	ZNF521	ENSG00000198795.11	transcript	ENST00000361524.8	protein_coding	5/7			chr18	TogoVar
ZNF526_chr19_42215312_42233201	42223974	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0039 a0001c0001t0003g0039	1	342	0.0029	36	c.-10 others(53): Show c.-108-212_-108-211insTATATATATATATATATATATATATATA TATATATA	ZNF526	ENSG00000167625.12	transcript	ENST00000301215.8	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF526_chr19_42215312_42233201	42224002	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0076 a0002c0002t0001g0076	1	342	0.0029	36	c.-10 others(53): Show c.-108-212_-108-211insTATATATATATATATATATATATATATA TATATACA	ZNF526	ENSG00000167625.12	transcript	ENST00000301215.8	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF536_chr19_30367384_30563059	30432006	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	212	0.0047	36	c.-2- others(53): Show c.-2-11554_-2-11553insTATATATATATATATATATATATATATA TACACACA	ZNF536	ENSG00000198597.10	transcript	ENST00000355537.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF536_chr19_30367384_30563059	30432006	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0118 a0001c0002t0002g0118	1	212	0.0047	36	c.-2- others(53): Show c.-2-11554_-2-11553insTATATATATATATATATATATATATATA TATACACA	ZNF536	ENSG00000198597.10	transcript	ENST00000355537.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF562_chr19_9636807_9680100	9650362	G G	GTATACAT others(29): Show GTATACATACATATGTGTATATATATGTATATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02155.hp1 HG02735.hp1 HG02155.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0071 a0001c0001t0072 a0001c0001t0071 a0001c0001t0072	a0001c0001t0071g0176 a0001c0001t0072g0187 a0001c0001t0071g0176 a0001c0001t0072g0187	2	290	0.0069	36	c.25 others(47): Show c.2551_*2586dupTATATATATACATATATATACACATATGTATGTA TA	ZNF562	ENSG00000171466.10	transcript	ENST00000453372.7	protein_coding	6/6	2586		chr19	TogoVar
ZNF578_chr19_52448553_52521882	52458468	T T	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02257.hp1 NA19043.hp2 NA20129.hp1 HG02257.hp1 NA19043.hp2 NA20129.hp1	a0002 a0007 a0002 a0007	a0002c0002 a0007c0009 a0002c0002 a0007c0009	a0002c0002t0017 a0002c0002t0081 a0007c0009t0009 a0002c0002t0017 a0002c0002t0081 a0007c0009t0009	a0002c0002t0017g0038 a0002c0002t0081g0138 a0007c0009t0009g0021 a0002c0002t0017g0038 a0002c0002t0081g0138 a0007c0009t0009g0021	3	372	0.0081	36	c.-12 others(55): Show c.-122+1525_-122+1526insATATATATATATATATATATATATAT ATATATATAT	ZNF578	ENSG00000258405.11	transcript	ENST00000421239.7	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF582_chr19_56377751_56398534	56381030	A A	AGGTGCTG others(29): Show AGGTGCTGTTAAGGAACTGGGCTTTGGCTGGTTTGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0159 a0001c0009t0001g0159	1	484	0.0021	36	c.28 others(47): Show c.2832_*2833insACCAAACCAGCCAAAGCCCAGTTCCTTAACAGCA CC	ZNF582	ENSG00000018869.18	transcript	ENST00000586929.6	protein_coding		1720		chr19	TogoVar
ZNF609_chr15_64455578_64691068	64576891	A A	AATATATA others(29): Show AATATATACATATATATGTATATATACATATATGTGT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0078 a0001c0001t0008g0078	1	176	0.0057	36	c.748 others(55): Show c.748-45922_748-45887dupTATGTATATATACATATATGTGTATA TATACATATA	ZNF609	ENSG00000180357.10	transcript	ENST00000326648.5	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
ZNF609_chr15_64455578_64691068	64577430	C C	CATATATG others(29): Show CATATATGTATATATATACACATATAAATATATACAT	intron_variant intron_variant	MODIFIER	HG02976.hp1 NA20300.hp1 HG02976.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0120 a0001c0001t0002g0121	2	176	0.0114	36	c.748 others(55): Show c.748-45280_748-45245dupATATATATACACATATAAATATATAC ATATATATGT	ZNF609	ENSG00000180357.10	transcript	ENST00000326648.5	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
ZNF609_chr15_64455578_64691068	64577547	A A	ATATATAT others(29): Show ATATATATACACATATAAATATATACATATATATGTG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0072 a0001c0004t0002g0072	1	176	0.0057	36	c.748 others(55): Show c.748-45163_748-45128dupCACATATAAATATATACATATATATG TGTATATATA	ZNF609	ENSG00000180357.10	transcript	ENST00000326648.5	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
ZNF609_chr15_64455578_64691068	64577655	G G	GTATATAT others(29): Show GTATATATACACATATAAATATATACATATATATGTA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03098.hp1 HG03486.hp1 others(1): Show HG02145.hp2 HG03098.hp1 HG03486.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0018 a0001c0001t0002g0091 a0001c0001t0002g0101 others(1): Show a0001c0001t0002g0018 a0001c0001t0002g0091 a0001c0001t0002g0101 a0001c0001t0006g0081	4	176	0.0227	36	c.748 others(55): Show c.748-45137_748-45136insATATATATACACATATAAATATATAC ATATATATGT	ZNF609	ENSG00000180357.10	transcript	ENST00000326648.5	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
ZNF613_chr19_51922472_51951621	51950250	C C	CTATGTAT others(29): Show CTATGTATCTATGTATGTATGTATGTATGTATGTATG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18941.hp2 NA18945.hp2 NA18941.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	2	382	0.0052	36	c.45 others(47): Show c.4513_*4514insTATGTATCTATGTATGTATGTATGTATGTATGTA TG	ZNF613	ENSG00000176024.18	transcript	ENST00000293471.11	protein_coding		3630		chr19	TogoVar
ZNF618_chr9_113871309_114061593	113889350	T T	TCTCTCTC others(29): Show TCTCTCTCTCTCTCTCTCTCTCTCCCTCCCTCCCTCC	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18971.hp1 NA18989.hp2 others(1): Show NA18953.hp2 NA18971.hp1 NA18989.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0026 a0001c0001 a0001c0003 a0001c0026	a0001c0001t0005 a0001c0001t0120 a0001c0003t0001 others(1): Show a0001c0001t0005 a0001c0001t0120 a0001c0003t0001 a0001c0026t0018	a0001c0001t0005g0189 a0001c0001t0120g0184 a0001c0003t0001g0185 others(1): Show a0001c0001t0005g0189 a0001c0001t0120g0184 a0001c0003t0001g0185 a0001c0026t0018g0204	4	264	0.0152	36	c.33+ others(53): Show c.33+12940_33+12941insTCTCTCTCTCTCTCTCTCTCCCTCCCTC CCTCCCTC	ZNF618	ENSG00000157657.15	transcript	ENST00000374126.10	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
ZNF664_chr12_123968215_124020427	124015994	A A	AGGGGGGG others(29): Show AGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0005 a0001c0001t0019g0005	1	290	0.0035	36	c.30 others(47): Show c.3064_*3065insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG GG	ZNF664	ENSG00000179195.16	transcript	ENST00000337815.9	protein_coding		568		chr12	TogoVar
ZNF681_chr19_23734195_23763891	23761921	T T	TCTCTCTC others(29): Show TCTCTCTCTCTCTCTCTCGCTCTCTCTCTCTCCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0067 a0003c0003t0003g0067	1	394	0.0025	36	c.-31 others(47): Show c.-3173_-3172insGAGAGGAGAGAGAGAGAGCGAGAGAGAGAGAGAG AG	ZNF681	ENSG00000196172.9	transcript	ENST00000402377.3	protein_coding		3031		chr19	TogoVar
ZNF692_chr1_248845008_248864085	248854555	A A	AACACACA others(29): Show AACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02615.hp2 HG02630.hp1 others(6): Show HG02451.hp2 HG02615.hp2 HG02630.hp1 HG03017.hp2 HG03098.hp2 HG03516.hp1 NA18906.hp2 NA18980.hp2 NA18987.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0003 a0001c0001 a0002c0002 a0002c0003	a0001c0001t0001 a0002c0002t0001 a0002c0003t0001 a0001c0001t0001 a0002c0002t0001 a0002c0003t0001	a0001c0001t0001g0028 a0001c0001t0001g0113 a0002c0002t0001g0026 others(1): Show a0001c0001t0001g0028 a0001c0001t0001g0113 a0002c0002t0001g0026 a0002c0003t0001g0032	9	412	0.0218	36	c.103 others(53): Show c.1039-505_1039-504insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGT	ZNF692	ENSG00000171163.16	transcript	ENST00000306601.9	protein_coding	9/11			chr1	TogoVar
ZNF692_chr1_248845008_248864085	248854570	A A	ACACACAC others(29): Show ACACACACACACACACACACACACACACACACACACT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02818.hp1 HG03225.hp2 others(7): Show HG00621.hp2 HG02818.hp1 HG03225.hp2 HG03654.hp2 HG04228.hp2 NA18951.hp2 NA18960.hp2 NA18975.hp2 NA19057.hp2 NA20300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0014 a0002c0002t0002g0045 a0002c0002t0002g0050 a0002c0002t0002g0014 a0002c0002t0002g0045 a0002c0002t0002g0050	10	412	0.0243	36	c.103 others(53): Show c.1039-520_1039-519insAGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTG	ZNF692	ENSG00000171163.16	transcript	ENST00000306601.9	protein_coding	9/11			chr1	TogoVar
ZNF705B_chr8_7921337_7957413	7955763	C C	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0007 a0003c0003t0001g0007	1	82	0.0122	36	c.33 others(47): Show c.3372_*3373insATATATATATATATATATATATATATATATATAT AT	ZNF705B	ENSG00000215356.4	transcript	ENST00000400120.3	protein_coding		3351		chr8	TogoVar
ZNF717_chr3_75730868_75790549	75765035	A A	ATATATAT others(29): Show ATATATATATATATATGTATATGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19070.hp1 NA19012.hp2 NA19070.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0005 a0005c0005t0005	a0005c0005t0005g0110 a0005c0005t0005g0126 a0005c0005t0005g0110 a0005c0005t0005g0126	2	360	0.0056	36	c.57+ others(53): Show c.57+18270_57+18271insCACACACACACACACATATACATATATA TATATATA	ZNF717	ENSG00000227124.11	transcript	ENST00000652011.2	protein_coding	2/4			chr3	TogoVar
ZNF718_chr4_119501_169162	135732	T T	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00639.hp2 HG00642.hp2 others(74): Show HG00558.hp2 HG00639.hp2 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG01074.hp2 HG01169.hp2 HG01175.hp1 HG01243.hp2 HG01257.hp2 HG01258.hp1 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01928.hp1 HG01934.hp1 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02056.hp2 HG02071.hp1 HG02300.hp2 HG02486.hp1 HG02523.hp2 HG02602.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02897.hp1 HG02922.hp1 HG02976.hp1 HG03195.hp1 HG03209.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03704.hp1 HG03710.hp2 HG04184.hp2 NA18522.hp2 NA18747.hp2 NA18942.hp1 NA18942.hp2 NA18954.hp1 NA18955.hp2 NA18956.hp2 NA18957.hp2 NA18966.hp1 NA18971.hp1 NA18973.hp1 NA18973.hp2 NA18980.hp2 NA18985.hp1 NA18990.hp1 NA19000.hp1 NA19000.hp2 NA19005.hp2 NA19043.hp2 NA19058.hp2 NA19062.hp2 NA19075.hp1 NA19080.hp1 NA19084.hp1 NA19085.hp2 NA19087.hp2 NA19090.hp2 NA20129.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0006	a0001c0001 a0001c0011 a0001c0012 others(5): Show a0001c0001 a0001c0011 a0001c0012 a0001c0013 a0002c0002 a0004c0004 a0005c0005 a0006c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0013 a0001c0001t0017 a0001c0001t0023 a0001c0001t0026 a0001c0011t0001 a0001c0012t0007 a0001c0013t0013 a0002c0002t0002 a0002c0002t0004 a0002c0002t0006 a0004c0004t0001 a0004c0004t0009 a0004c0004t0010 a0004c0004t0022 a0005c0005t0005 a0006c0006t0008	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0013 others(54): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0050 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0132 a0001c0001t0002g0209 a0001c0001t0007g0004 a0001c0001t0013g0052 a0001c0001t0017g0075 a0001c0001t0023g0016 a0001c0001t0026g0016 a0001c0011t0001g0089 a0001c0012t0007g0051 a0001c0013t0013g0053 a0002c0002t0002g0169 a0002c0002t0002g0170 a0002c0002t0002g0180 a0002c0002t0002g0181 a0002c0002t0002g0182 a0002c0002t0002g0184 a0002c0002t0002g0185 a0002c0002t0002g0200 a0002c0002t0004g0027 a0002c0002t0004g0138 a0002c0002t0004g0145 a0002c0002t0004g0146 a0002c0002t0004g0191 a0002c0002t0006g0177 a0002c0002t0006g0178 a0004c0004t0001g0187 a0004c0004t0009g0238 a0004c0004t0010g0265 a0004c0004t0010g0267 a0004c0004t0022g0264 a0005c0005t0005g0248 a0006c0006t0008g0207	77	330	0.2333	36	c.226 others(53): Show c.226+4236_226+4237insATATATATATATATATATATATATATAT ATATATAT	ZNF718	ENSG00000250312.8	transcript	ENST00000510175.6	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr4	TogoVar
ZNF722_chr7_63993849_64023081	64007246	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0245	1	422	0.0024	36	c.262 others(51): Show c.262+936_262+937insATATATATATATATATATATATATATTTAT ATATAT	ZNF722	ENSG00000241149.4	transcript	ENST00000330020.5	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
ZNF723_chr19_22827291_22863667	22862532	A A	ATTATATA others(29): Show ATTATATATATTATATATGTAATATAATATATATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	364	0.0028	36	c.40 others(47): Show c.4099_*4100insTTATATATATTATATATGTAATATAATATATATA TT	ZNF723	ENSG00000268696.3	transcript	ENST00000600766.3	protein_coding		3866		chr19	TogoVar
ZNF724_chr19_23216599_23255394	23243475	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0059 a0001c0002t0003g0059	1	326	0.0031	36	c.3+6 others(49): Show c.3+6764_3+6765insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	ZNF724	ENSG00000196081.10	transcript	ENST00000418100.6	protein_coding	1/3			chr19	TogoVar
ZNF732_chr4_265675_310474	299455	A A	ATGTGTAT others(29): Show ATGTGTATATATATATATACACATATATACACATATG	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	326	0.0031	36	c.4-3 others(49): Show c.4-3301_4-3300insCATATGTGTATATATGTGTATATATATATATA CACA	ZNF732	ENSG00000186777.13	transcript	ENST00000419098.6	protein_coding	1/3			chr4	TogoVar
ZNF763_chr19_11960040_11985617	11963074	T T	TGAGAGAG others(29): Show TGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02109.hp2 HG02723.hp2 others(2): Show HG02055.hp2 HG02109.hp2 HG02723.hp2 HG03471.hp2 NA19002.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0006 a0001c0002t0003 a0001c0002t0006	a0001c0002t0003g0020 a0001c0002t0003g0039 a0001c0002t0003g0081 others(1): Show a0001c0002t0003g0020 a0001c0002t0003g0039 a0001c0002t0003g0081 a0001c0002t0006g0095	5	384	0.0130	36	c.-21 others(47): Show c.-2135_-2134insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GA	ZNF763	ENSG00000197054.12	transcript	ENST00000358987.8	protein_coding		1965		chr19	TogoVar
ZNF763_chr19_11960040_11985617	11963088	A A	AGAGAGAG others(29): Show AGAGAGAGAGAGAGAGAGAGAGAGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0009 a0009	a0009c0007 a0009c0007	a0009c0007t0005 a0009c0007t0005	a0009c0007t0005g0030 a0009c0007t0005g0030	1	384	0.0026	36	c.-21 others(47): Show c.-2121_-2120insGAGAGAGAGAGAGAGAGAGAGAGTGTGTGTGTGT GT	ZNF763	ENSG00000197054.12	transcript	ENST00000358987.8	protein_coding		1951		chr19	TogoVar
ZNF765_chr19_53390149_53417009	53414487	A A	ACACCACC others(29): Show ACACCACCACCACCACCACCACCACCACCACCACCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0146 a0001c0003t0001g0146	1	448	0.0022	36	c.53 others(47): Show c.5360_*5361insCACCACCACCACCACCACCACCACCACCACCACC AC	ZNF765	ENSG00000196417.13	transcript	ENST00000396408.8	protein_coding		2479		chr19	TogoVar
ZNF766_chr19_52264587_52301046	52297143	C C	CCGCCCCC others(29): Show CCGCCCCCGCCCCCGCCCCCGCCCCCGCCCCCGCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0001 a0001c0001t0004g0001	1	414	0.0024	36	c.59 others(47): Show c.5945_*5946insCGCCCCCGCCCCCGCCCCCGCCCCCGCCCCCGCC CT	ZNF766	ENSG00000196214.11	transcript	ENST00000439461.6	protein_coding		1098		chr19	TogoVar
ZNF771_chr16_30402606_30424414	30403283	G G	GCTGCTGC others(29): Show GCTGCTGCTGCTGCTGCTGCTGCTGCTTCTTCTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	1	328	0.0031	36	c.-43 others(47): Show c.-4391_-4390insCTGCTGCTGCTGCTGCTGCTGCTGCTTCTTCTTC TT	ZNF771	ENSG00000179965.12	transcript	ENST00000319296.10	protein_coding		4322		chr16	TogoVar
ZNF771_chr16_30402606_30424414	30403283	G G	GCTGCTGC others(29): Show GCTGCTGCTGCTGCTGCTGCTGCTTCTTCTTCTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18980.hp1 NA19055.hp1 NA19072.hp1 others(1): Show NA18980.hp1 NA19055.hp1 NA19072.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0002 a0001c0001t0011	a0001c0001t0002g0001 a0001c0001t0002g0053 a0001c0001t0002g0181 others(1): Show a0001c0001t0002g0001 a0001c0001t0002g0053 a0001c0001t0002g0181 a0001c0001t0011g0001	4	328	0.0122	36	c.-43 others(47): Show c.-4391_-4390insCTGCTGCTGCTGCTGCTGCTGCTTCTTCTTCTTC TT	ZNF771	ENSG00000179965.12	transcript	ENST00000319296.10	protein_coding		4322		chr16	TogoVar
ZNF771_chr16_30402606_30424414	30403283	G G	GCTGCTGC others(29): Show GCTGCTGCTGCTGCTGCTGCTTCTTCTTCTTCTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp1 HG01517.hp2 HG03669.hp2 others(2): Show HG01361.hp1 HG01517.hp2 HG03669.hp2 NA18950.hp1 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0137 a0001c0001t0001g0182 a0001c0001t0002g0007 others(2): Show a0001c0001t0001g0137 a0001c0001t0001g0182 a0001c0001t0002g0007 a0001c0001t0002g0048 a0001c0001t0002g0070	5	328	0.0152	36	c.-43 others(47): Show c.-4391_-4390insCTGCTGCTGCTGCTGCTGCTTCTTCTTCTTCTTC TT	ZNF771	ENSG00000179965.12	transcript	ENST00000319296.10	protein_coding		4322		chr16	TogoVar
ZNF771_chr16_30402606_30424414	30403283	G G	GCTGCTGC others(29): Show GCTGCTGCTGCTGCTGCTTCTTCTTCTTCTTCTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp2 HG01258.hp2 HG02965.hp1 others(2): Show HG01256.hp2 HG01258.hp2 HG02965.hp1 HG03831.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0011 a0001c0001t0001g0085 a0001c0001t0001g0198 others(1): Show a0001c0001t0001g0011 a0001c0001t0001g0085 a0001c0001t0001g0198 a0001c0001t0002g0004	5	328	0.0152	36	c.-43 others(47): Show c.-4391_-4390insCTGCTGCTGCTGCTGCTTCTTCTTCTTCTTCTTC TT	ZNF771	ENSG00000179965.12	transcript	ENST00000319296.10	protein_coding		4322		chr16	TogoVar
ZNF771_chr16_30402606_30424414	30403283	G G	GCTGCTGC others(29): Show GCTGCTGCTGCTGCTTCTTCTTCTTCTTCTTCTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02129.hp1 NA21309.hp2 HG02109.hp2 HG02129.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0046 a0001c0001t0001g0087 a0001c0001t0002g0003 a0001c0001t0001g0046 a0001c0001t0001g0087 a0001c0001t0002g0003	3	328	0.0092	36	c.-43 others(47): Show c.-4391_-4390insCTGCTGCTGCTGCTTCTTCTTCTTCTTCTTCTTC TT	ZNF771	ENSG00000179965.12	transcript	ENST00000319296.10	protein_coding		4322		chr16	TogoVar
ZNF771_chr16_30402606_30424414	30403283	G G	GCTGCTGC others(29): Show GCTGCTGCTGCTTCTTCTTCTTCTTCTTCTTCTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	2	328	0.0061	36	c.-43 others(47): Show c.-4391_-4390insCTGCTGCTGCTTCTTCTTCTTCTTCTTCTTCTTC TT	ZNF771	ENSG00000179965.12	transcript	ENST00000319296.10	protein_coding		4322		chr16	TogoVar
ZNF771_chr16_30402606_30424414	30403283	G G	GCTGCTGC others(29): Show GCTGCTGCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02280.hp2 HG02698.hp2 others(3): Show HG02258.hp1 HG02280.hp2 HG02698.hp2 HG03540.hp2 HG04228.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0001g0027 others(2): Show a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0001g0027 a0001c0001t0001g0120 a0001c0001t0001g0171	6	328	0.0183	36	c.-43 others(47): Show c.-4391_-4390insCTGCTGCTTCTTCTTCTTCTTCTTCTTCTTCTTC TT	ZNF771	ENSG00000179965.12	transcript	ENST00000319296.10	protein_coding		4322		chr16	TogoVar
ZNF771_chr16_30402606_30424414	30403283	G G	GCTGCTTC others(29): Show GCTGCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	328	0.0031	36	c.-43 others(47): Show c.-4391_-4390insCTGCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TT	ZNF771	ENSG00000179965.12	transcript	ENST00000319296.10	protein_coding		4322		chr16	TogoVar
ZNF772_chr19_57464586_57482566	57482409	T T	TCCCCTCT others(29): Show TCCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp1 NA18946.hp1 HG04199.hp1 NA18946.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0003 a0002c0002t0004g0003	2	394	0.0051	36	c.-51 others(47): Show c.-5101_-5100insGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGG GG	ZNF772	ENSG00000197128.13	transcript	ENST00000356584.8	protein_coding		4844		chr19	TogoVar
ZNF772_chr19_57464586_57482566	57482415	T T	TCCCCTCT others(29): Show TCCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0003 a0002c0002t0004g0003	1	394	0.0025	36	c.-51 others(47): Show c.-5107_-5106insGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGG GG	ZNF772	ENSG00000197128.13	transcript	ENST00000356584.8	protein_coding		4850		chr19	TogoVar
ZNF780B_chr19_40023260_40061231	40049253	A A	AAACCACA others(29): Show AAACCACATCTACATCCTAAAACCACAATCAAACATC	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0169 a0001c0001t0003g0169	1	290	0.0035	36	c.10- others(49): Show c.10-458_10-457insGATGTTTGATTGTGGTTTTAGGATGTAGATGT GGTT	ZNF780B	ENSG00000128000.17	transcript	ENST00000434248.6	protein_coding	2/4			chr19	TogoVar
ZNF791_chr19_12605920_12638834	12614892	C C	CTTTTTTT others(29): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0178 a0001c0001t0005g0178	1	382	0.0026	36	c.3+3 others(49): Show c.3+3845_3+3846insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	ZNF791	ENSG00000173875.14	transcript	ENST00000343325.9	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF799_chr19_12385016_12406271	12385638	T T	TACACACG others(29): Show TACACACGCACACACACACACACATATACACATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG01981.hp1 HG02055.hp2 others(3): Show HG01891.hp1 HG01981.hp1 HG02055.hp2 HG02451.hp2 HG02818.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0017 a0001c0001t0001g0063 a0001c0001t0005g0045 a0001c0001t0001g0017 a0001c0001t0001g0063 a0001c0001t0005g0045	6	446	0.0135	36	c.48 others(47): Show c.4827_*4828insGTATATGTGTATATGTGTGTGTGTGTGTGCGTGT GT	ZNF799	ENSG00000196466.10	transcript	ENST00000430385.3	protein_coding		4377		chr19	TogoVar

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Search Results (Total: 8848 hits)