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
ZFPM2_chr8_105313438_105809539	105380850	A A	AATATATA others(31): Show AATATATATAATATATAATATATATGTTATATATATTAT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02602.hp1 HG02735.hp2 others(7): Show HG01192.hp1 HG02602.hp1 HG02735.hp2 HG03017.hp2 HG03688.hp2 HG03831.hp2 HG04204.hp2 HG06807.hp1 NA18957.hp2 NA19084.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0009 a0002c0002 others(1): Show a0001c0001 a0001c0009 a0002c0002 a0004c0005	a0001c0001t0001 a0001c0001t0003 a0001c0009t0001 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0009t0001 a0002c0002t0001 a0004c0005t0001	a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0085 others(7): Show a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0003g0084 a0001c0009t0001g0083 a0002c0002t0001g0075 a0002c0002t0001g0078 a0002c0002t0001g0086 a0004c0005t0001g0079 a0004c0005t0001g0080	10	92	0.1087	38	c.41- others(55): Show c.41-38292_41-38255dupTATATATAATATATAATATATATGTTAT ATATATTATA	ZFPM2	ENSG00000169946.14	transcript	ENST00000407775.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
ZFPM2_chr8_105313438_105809539	105429443	G G	GATATATA others(31): Show GATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0087 a0002c0003t0006g0087	1	92	0.0109	38	c.199 others(57): Show c.199+10142_199+10143insTATATATATATATATATATATATATA TATATATATATA	ZFPM2	ENSG00000169946.14	transcript	ENST00000407775.7	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
ZHX3_chr20_41173455_41322731	41196342	T T	TATAAATA others(31): Show TATAAATATATATCTTATAAATATATATATTTATATAAC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0026 a0001c0001t0005g0026	1	360	0.0028	38	c.286 others(57): Show c.2860+5677_2860+5714dupGTTATATAAATATATATATTTATAAG ATATATATTTAT	ZHX3	ENSG00000174306.22	transcript	ENST00000683867.1	protein_coding	3/3			chr20	TogoVar
ZHX3_chr20_41173455_41322731	41197210	C C	CATATATT others(31): Show CATATATTTTATATATAATTGTATATATTTAAAATACAT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01256.hp2 HG01258.hp1 others(8): Show HG01081.hp1 HG01256.hp2 HG01258.hp1 HG02056.hp1 HG03491.hp2 HG03492.hp1 HG04204.hp2 NA18964.hp1 NA18985.hp2 NA19058.hp2 NA19068.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0008 a0002c0002 a0001c0001 a0001c0008 a0002c0002	a0001c0001t0001 a0001c0008t0001 a0002c0002t0001 a0001c0001t0001 a0001c0008t0001 a0002c0002t0001	a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 others(8): Show a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0203 a0001c0001t0001g0222 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0252 a0001c0008t0001g0211 a0002c0002t0001g0157	11	360	0.0306	38	c.286 others(57): Show c.2860+4809_2860+4846dupATGTATTTTAAATATATACAATTATA TATAAAATATAT	ZHX3	ENSG00000174306.22	transcript	ENST00000683867.1	protein_coding	3/3			chr20	TogoVar
ZIM3_chr19_57129096_57150202	57146492	A A	ATATATAT others(31): Show ATATATATATATATATATATATTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 NA18957.hp2 HG01081.hp2 NA18957.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0002 a0004c0004t0002 a0002c0002t0002 a0004c0004t0002	a0002c0002t0002g0003 a0004c0004t0002g0053 a0002c0002t0002g0003 a0004c0004t0002g0053	2	418	0.0048	38	c.-16 others(49): Show c.-1677_-1676insAAAAAAAAAAAAAAAAAATATATATATATATATA TATA	ZIM3	ENSG00000141946.1	transcript	ENST00000269834.1	protein_coding		1291		chr19	TogoVar
ZIM3_chr19_57129096_57150202	57146492	A A	ATATATAT others(31): Show ATATATATATATATATATATTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG04115.hp1 HG00642.hp1 HG04115.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0018 a0002c0002t0002g0021 a0002c0002t0002g0018 a0002c0002t0002g0021	2	418	0.0048	38	c.-16 others(49): Show c.-1677_-1676insAAAAAAAAAAAAAAAAAAAATATATATATATATA TATA	ZIM3	ENSG00000141946.1	transcript	ENST00000269834.1	protein_coding		1291		chr19	TogoVar
ZIM3_chr19_57129096_57150202	57146492	A A	ATATATAT others(31): Show ATATATATATATATATATTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp1 HG03942.hp2 HG02738.hp1 HG03942.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0084 a0002c0002t0002g0090 a0002c0002t0002g0084 a0002c0002t0002g0090	2	418	0.0048	38	c.-16 others(49): Show c.-1677_-1676insAAAAAAAAAAAAAAAAAAAAAATATATATATATA TATA	ZIM3	ENSG00000141946.1	transcript	ENST00000269834.1	protein_coding		1291		chr19	TogoVar
ZMAT3_chr3_179012223_179076809	179023689	A A	AATATATA others(31): Show AATATATATATATATATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0194 a0001c0001t0194	a0001c0001t0194g0145 a0001c0001t0194g0145	1	350	0.0029	38	c.13 others(49): Show c.1327_*1328insATATATATATATATATATATATATATATATATAT ATAT	ZMAT3	ENSG00000172667.11	transcript	ENST00000311417.7	protein_coding	6/6	1327		chr3	TogoVar
ZMAT3_chr3_179012223_179076809	179023710	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATATTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0152 a0001c0001t0152	a0001c0001t0152g0041 a0001c0001t0152g0041	1	350	0.0029	38	c.13 others(49): Show c.1306_*1307insAAAAAATATATATATATATATATATATATATATA TATA	ZMAT3	ENSG00000172667.11	transcript	ENST00000311417.7	protein_coding	6/6	1306		chr3	TogoVar
ZMAT3_chr3_179012223_179076809	179023710	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03492.hp1 NA19043.hp2 NA19062.hp1 HG03492.hp1 NA19043.hp2 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0063 a0001c0001t0064 a0001c0001t0124 a0001c0001t0063 a0001c0001t0064 a0001c0001t0124	a0001c0001t0063g0083 a0001c0001t0064g0334 a0001c0001t0124g0185 a0001c0001t0063g0083 a0001c0001t0064g0334 a0001c0001t0124g0185	3	350	0.0086	38	c.13 others(49): Show c.1306_*1307insAAAAAAAATATATATATATATATATATATATATA TATA	ZMAT3	ENSG00000172667.11	transcript	ENST00000311417.7	protein_coding	6/6	1306		chr3	TogoVar
ZMAT3_chr3_179012223_179076809	179023710	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0106 a0001c0001t0058g0106	1	350	0.0029	38	c.13 others(49): Show c.1306_*1307insAAAAAAAAAATATATATATATATATATATATATA TATA	ZMAT3	ENSG00000172667.11	transcript	ENST00000311417.7	protein_coding	6/6	1306		chr3	TogoVar
ZMAT3_chr3_179012223_179076809	179023710	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0098 a0001c0001t0098	a0001c0001t0098g0237 a0001c0001t0098g0237	1	350	0.0029	38	c.13 others(49): Show c.1306_*1307insAAAAAAAAAAAATATATATATATATATATATATA TATA	ZMAT3	ENSG00000172667.11	transcript	ENST00000311417.7	protein_coding	6/6	1306		chr3	TogoVar
ZMIZ2_chr7_44743847_44774881	44747661	A A	AAGAAAGA others(31): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG01175.hp1 HG01261.hp1 others(5): Show HG01167.hp1 HG01175.hp1 HG01261.hp1 HG01358.hp1 HG02055.hp1 NA18983.hp1 NA19076.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0004t0001 a0001c0001t0001 a0001c0001t0003 a0001c0004t0001	a0001c0001t0001g0010 a0001c0001t0001g0016 a0001c0001t0003g0005 others(4): Show a0001c0001t0001g0010 a0001c0001t0001g0016 a0001c0001t0003g0005 a0001c0001t0003g0010 a0001c0001t0003g0082 a0001c0001t0003g0086 a0001c0004t0001g0003	8	370	0.0216	38	c.-13 others(49): Show c.-1393_-1392insAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAG	ZMIZ2	ENSG00000122515.16	transcript	ENST00000309315.9	protein_coding		1185		chr7	TogoVar
ZMPSTE24_chr1_40253236_40299180	40273537	A A	AAAAAAAA others(31): Show AAAAAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	394	0.0025	38	c.769 others(55): Show c.769+1503_769+1504insAAAAAAAAAAAATATATATATATATATA TATATATATA	ZMPSTE24	ENSG00000084073.10	transcript	ENST00000372759.4	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZMPSTE24_chr1_40253236_40299180	40273537	A A	AAAAAAAA others(31): Show AAAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02257.hp2 NA18522.hp1 HG02155.hp2 HG02257.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0118 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0118	3	394	0.0076	38	c.769 others(55): Show c.769+1503_769+1504insAAAAAAAAAATATATATATATATATATA TATATATATA	ZMPSTE24	ENSG00000084073.10	transcript	ENST00000372759.4	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZNF101_chr19_19663839_19688506	19687353	T T	TCCCCCCC others(31): Show TCCCCCCCCCCCCCCCCCTCCCCCCACCCCTCTCCCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	364	0.0028	38	c.70 others(49): Show c.7053_*7054insCCCCCCCCCCCCCCCCCTCCCCCCACCCCTCTCC CCCA	ZNF101	ENSG00000181896.12	transcript	ENST00000592502.2	protein_coding		3848		chr19	TogoVar
ZNF140_chr12_133075923_133112428	133081348	A A	AATATATA others(31): Show AATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0355 a0001c0001t0002g0355	1	392	0.0026	38	c.9+4 others(47): Show c.9+42_9+43insTATATATATATATATATATATATATATATATATATA TA	ZNF140	ENSG00000196387.10	transcript	ENST00000355557.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr12	TogoVar
ZNF143_chr11_9456012_9533524	9486396	A A	AATATATA others(31): Show AATATATATAATATATTATATATATAATATATATATAAT	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	332	0.0030	38	c.645 others(55): Show c.645+6856_645+6857insATAATATATTATATATATAATATATATA TAATATATAT	ZNF143	ENSG00000166478.10	transcript	ENST00000396602.7	protein_coding	7/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
ZNF155_chr19_43979188_44003326	44000057	G G	GTATGTGT others(31): Show GTATGTGTATATATATATATACGTGTATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG01433.hp2 HG00738.hp1 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	464	0.0043	38	c.25 others(49): Show c.2583_*2584insTATGTGTATATATATATATACGTGTATATATATA TATA	ZNF155	ENSG00000204920.11	transcript	ENST00000270014.7	protein_coding		1732		chr19	TogoVar
ZNF174_chr16_3396215_3414364	3414325	C C	CATTTTTT others(31): Show CATTTTTTTTTTTTTAGTTTATTCTTTTTTTTTTTTTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	364	0.0028	38	c.54 others(49): Show c.5406_*5407insATTTTTTTTTTTTTAGTTTATTCTTTTTTTTTTT TTAT	ZNF174	ENSG00000103343.13	transcript	ENST00000268655.5	protein_coding		4962		chr16	TogoVar
ZNF184_chr6_27445747_27478105	27465016	C C	CAAAAAAA others(31): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG03471.hp1 HG03540.hp1 HG00741.hp1 HG03471.hp1 HG03540.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0015 a0002c0002t0002g0015	3	394	0.0076	38	c.75+ others(53): Show c.75+2836_75+2837insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	ZNF184	ENSG00000096654.16	transcript	ENST00000683788.1	protein_coding	3/5			chr6	TogoVar
ZNF217_chr20_53562071_53598839	53598271	G G	GCCCTCCA others(31): Show GCCCTCCACCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0198 a0001c0001t0005g0198	1	414	0.0024	38	c.-48 others(49): Show c.-4859_-4858insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGTGG AGGG	ZNF217	ENSG00000171940.14	transcript	ENST00000371471.7	protein_coding		4433		chr20	TogoVar
ZNF227_chr19_44207532_44242268	44230927	A A	AAAAAAAA others(31): Show AAAAAAAAAAAAATATATCTATCTATCTATCTATCTATC	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0256 a0001c0008t0001g0256	1	402	0.0025	38	c.271 others(55): Show c.271+1111_271+1112insAAAAAAAAAAAATATATCTATCTATCTA TCTATCTATC	ZNF227	ENSG00000131115.16	transcript	ENST00000313040.12	protein_coding	5/5			chr19	TogoVar
ZNF227_chr19_44207532_44242268	44230951	A A	ATATATAT others(31): Show ATATATATATCTATATCTATATCTATATATATATATATC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0043 a0001c0004t0001g0043	1	402	0.0025	38	c.271 others(55): Show c.271+1138_271+1139insATATATCTATATCTATATCTATATATAT ATATATCTAT	ZNF227	ENSG00000131115.16	transcript	ENST00000313040.12	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF230_chr19_43997957_44018924	44000057	G G	GTATGTGT others(31): Show GTATGTGTATATATATATATACGTGTATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG01433.hp1 HG00738.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0022 a0001c0001t0001 a0001c0004t0022	a0001c0001t0001g0001 a0001c0004t0022g0046 a0001c0001t0001g0001 a0001c0004t0022g0046	2	426	0.0047	38	c.-31 others(49): Show c.-3119_-3118insTATGTGTATATATATATATACGTGTATATATATA TATA	ZNF230	ENSG00000159882.13	transcript	ENST00000429154.7	protein_coding		2899		chr19	TogoVar
ZNF236_chr18_76817557_76977901	76975154	C C	CCTTTTCT others(31): Show CCTTTTCTTTTCTTTTCTTCTTTTCTTTTCTTTTCTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG03098.hp2 NA18944.hp1 others(2): Show HG02723.hp2 HG03098.hp2 NA18944.hp1 NA18984.hp2 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0033 a0001c0001 a0001c0033	a0001c0001t0001 a0001c0033t0001 a0001c0001t0001 a0001c0033t0001	a0001c0001t0001g0038 a0001c0001t0001g0042 a0001c0001t0001g0077 others(2): Show a0001c0001t0001g0038 a0001c0001t0001g0042 a0001c0001t0001g0077 a0001c0001t0001g0343 a0001c0033t0001g0082	5	346	0.0145	38	c.68 others(49): Show c.6815_*6816insCTTTTCTTTTCTTTTCTTCTTTTCTTTTCTTTTC TTTT	ZNF236	ENSG00000130856.18	transcript	ENST00000320610.14	protein_coding		2254		chr18	TogoVar
ZNF253_chr19_19860882_19899674	19865545	A A	AAGAGAGA others(31): Show AAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0112 a0003c0005t0002g0112	1	370	0.0027	38	c.-45 others(47): Show c.-452_-451insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AG	ZNF253	ENSG00000256771.5	transcript	ENST00000589717.2	protein_coding		336		chr19	TogoVar
ZNF253_chr19_19860882_19899674	19865547	G G	GAGAGAGA others(31): Show GAGAGAGAGAGAGAGAGAGAGAGAAGAGAGAGAGAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0013 a0001c0002t0002g0013	1	370	0.0027	38	c.-45 others(47): Show c.-450_-449insAGAGAGAGAGAGAGAGAGAGAGAAGAGAGAGAGAAG AA	ZNF253	ENSG00000256771.5	transcript	ENST00000589717.2	protein_coding		334		chr19	TogoVar
ZNF253_chr19_19860882_19899674	19865547	G G	GAGAGAGA others(31): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02155.hp2 NA19054.hp2 NA19079.hp2 HG02155.hp2 NA19054.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0002 a0001c0001t0003 a0001c0002t0002	a0001c0001t0003g0084 a0001c0001t0003g0088 a0001c0002t0002g0060 a0001c0001t0003g0084 a0001c0001t0003g0088 a0001c0002t0002g0060	3	370	0.0081	38	c.-45 others(47): Show c.-450_-449insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAAG AA	ZNF253	ENSG00000256771.5	transcript	ENST00000589717.2	protein_coding		334		chr19	TogoVar
ZNF253_chr19_19860882_19899674	19872580	T T	TATATATA others(31): Show TATATATATATATATATATATATTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0255 a0001c0002t0008g0255	1	370	0.0027	38	c.4-5 others(51): Show c.4-5901_4-5900insATATATATATATATATATATATTATATATATA TATATA	ZNF253	ENSG00000256771.5	transcript	ENST00000589717.2	protein_coding	1/3			chr19	TogoVar
ZNF254_chr19_24082187_24134968	24085426	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	371	0.0027	38	c.-18 others(49): Show c.-1882_-1881insTATATATATATATATATATATATATATATATATA TATG	ZNF254	ENSG00000213096.11	transcript	ENST00000357002.5	protein_coding		1760		chr19	TogoVar
ZNF273_chr7_64898273_64935981	64912826	G G	GTTTTTTG others(31): Show GTTTTTTGTTGTTGTTGTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04228.hp1 NA21309.hp1 HG04228.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0295 a0001c0001t0001g0269 a0001c0001t0001g0295	2	422	0.0047	38	c.103 others(55): Show c.103-4749_103-4748insGTTGTTGTTGTTTTTTTTTTTTTTTTTT TTTTTTTTTT	ZNF273	ENSG00000198039.12	transcript	ENST00000476120.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
ZNF276_chr16_89716537_89745925	89744856	C C	CACACCGC others(31): Show CACACCGCTTCTCTCAAGCAAGCCAGGGTGTTTAGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0079 a0002c0002t0002g0079	1	420	0.0024	38	c.66 others(49): Show c.6610_*6611insACACCGCTTCTCTCAAGCAAGCCAGGGTGTTTAG GAGA	ZNF276	ENSG00000158805.12	transcript	ENST00000443381.7	protein_coding		3932		chr16	TogoVar
ZNF277_chr7_112201695_112348934	112310478	A A	AGAGAGAG others(31): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGT	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA19075.hp2 NA18977.hp2 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0073 a0001c0001t0001g0064 a0001c0001t0001g0073	2	280	0.0071	38	c.466 others(55): Show c.466-7703_466-7702insAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGTG	ZNF277	ENSG00000198839.10	transcript	ENST00000361822.8	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr7	TogoVar
ZNF30_chr19_34921903_34950168	34922338	C C	CGGCAGGG others(31): Show CGGCAGGGCAGAGACGCTCCTCACATCCCGGACGGGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00673.hp1 NA18985.hp2 HG00438.hp1 HG00673.hp1 NA18985.hp2	a0003 a0007 a0003 a0007	a0003c0003 a0007c0007 a0003c0003 a0007c0007	a0003c0003t0002 a0007c0007t0002 a0003c0003t0002 a0007c0007t0002	a0003c0003t0002g0002 a0003c0003t0002g0056 a0007c0007t0002g0074 a0003c0003t0002g0002 a0003c0003t0002g0056 a0007c0007t0002g0074	3	412	0.0073	38	c.-49 others(49): Show c.-4943_-4942insGGCAGGGCAGAGACGCTCCTCACATCCCGGACGG GGGT	ZNF30	ENSG00000168661.15	transcript	ENST00000601142.2	protein_coding		4564		chr19	TogoVar
ZNF341_chr20_33726996_33797269	33764561	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	332	0.0030	38	c.122 others(57): Show c.1223-2289_1223-2288insATATATATATATATATATATATATAT ATATATATTTTT	ZNF341	ENSG00000131061.15	transcript	ENST00000375200.6	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr20	TogoVar
ZNF358_chr19_7511103_7526025	7518557	G G	GAGAGAGA others(31): Show GAGAGAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01943.hp2 HG02004.hp2 others(1): Show HG01167.hp1 HG01943.hp2 HG02004.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0139 others(1): Show a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0139 a0001c0001t0001g0140	4	424	0.0094	38	c.-38 others(53): Show c.-38-645_-38-644insGAGAAAGAAAGAAAGAAAAAGAAAGAAAGA AAGAAAGA	ZNF358	ENSG00000198816.7	transcript	ENST00000597229.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF35_chr3_44643732_44665791	44662865	G G	GTTTTAAA others(31): Show GTTTTAAACCTTGGCTTCATGTTAGAATCACATTGGGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	326	0.0031	38	c.29 others(49): Show c.2918_*2919insTTTTAAACCTTGGCTTCATGTTAGAATCACATTG GGCA	ZNF35	ENSG00000169981.11	transcript	ENST00000396056.7	protein_coding		2075		chr3	TogoVar
ZNF366_chr5_72434903_72512410	72462547	C C	CTTTCTTT others(31): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00597.hp2 NA19007.hp2 HG00597.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0232 a0001c0002t0003g0047 a0001c0001t0001g0232 a0001c0002t0003g0047	2	368	0.0054	38	c.-14 others(55): Show c.-14-1038_-14-1037insAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAA	ZNF366	ENSG00000178175.12	transcript	ENST00000318442.6	protein_coding	1/4			chr5	TogoVar
ZNF366_chr5_72434903_72512410	72462549	T T	TTCTTTCT others(31): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02897.hp2 NA19065.hp2 HG02055.hp1 HG02897.hp2 NA19065.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0013 a0001c0001 a0001c0003 a0002c0013	a0001c0001t0001 a0001c0003t0003 a0002c0013t0005 a0001c0001t0001 a0001c0003t0003 a0002c0013t0005	a0001c0001t0001g0104 a0001c0003t0003g0317 a0002c0013t0005g0143 a0001c0001t0001g0104 a0001c0003t0003g0317 a0002c0013t0005g0143	3	368	0.0082	38	c.-14 others(55): Show c.-14-1040_-14-1039insGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGA	ZNF366	ENSG00000178175.12	transcript	ENST00000318442.6	protein_coding	1/4			chr5	TogoVar
ZNF382_chr19_36600313_36639114	36614914	C C	CTTTCCTT others(31): Show CTTTCCTTTCCTTTCCTTCCCTTCCCTTTCCGTTTCCCT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01175.hp1 HG01433.hp2 HG00642.hp2 HG01175.hp1 HG01433.hp2	a0002 a0002	a0002c0002 a0002c0006 a0002c0002 a0002c0006	a0002c0002t0002 a0002c0002t0004 a0002c0006t0002 a0002c0002t0002 a0002c0002t0004 a0002c0006t0002	a0002c0002t0002g0048 a0002c0002t0004g0050 a0002c0006t0002g0049 a0002c0002t0002g0048 a0002c0002t0004g0050 a0002c0006t0002g0049	3	352	0.0085	38	c.232 others(55): Show c.232+4174_232+4175insTCCTTTCCTTTCCTTCCCTTCCCTTTCC GTTTCCCTTT	ZNF382	ENSG00000161298.19	transcript	ENST00000292928.7	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF383_chr19_37213214_37253740	37253559	A A	AAAAAAAA others(31): Show AAAAAAAAAATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0016 a0001c0001t0025g0016	1	404	0.0025	38	c.98 others(49): Show c.9895_*9896insAAAAAAAAATATATATATATATATATATATATAT ATAT	ZNF383	ENSG00000188283.12	transcript	ENST00000684119.1	protein_coding		4820		chr19	TogoVar
ZNF385D_chr3_21407218_21756210	21496555	C C	CATATATT others(31): Show CATATATTTGATATATATATCATATATATATACACACAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01891.hp2 HG02258.hp2 others(13): Show HG01109.hp2 HG01891.hp2 HG02258.hp2 HG02486.hp1 HG02717.hp2 HG02895.hp2 HG02896.hp2 HG03098.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03516.hp1 HG03516.hp2 NA19030.hp1 NA19030.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0005	a0001c0001t0023 a0001c0001t0026 a0001c0001t0030 others(11): Show a0001c0001t0023 a0001c0001t0026 a0001c0001t0030 a0001c0001t0046 a0001c0001t0074 a0001c0001t0100 a0001c0001t0102 a0001c0002t0010 a0001c0003t0002 a0001c0003t0003 a0001c0003t0011 a0001c0003t0051 a0001c0003t0104 a0002c0005t0011	a0001c0001t0023g0043 a0001c0001t0026g0031 a0001c0001t0030g0229 others(13): Show a0001c0001t0023g0043 a0001c0001t0026g0031 a0001c0001t0030g0229 a0001c0001t0046g0013 a0001c0001t0074g0030 a0001c0001t0100g0226 a0001c0001t0102g0224 a0001c0002t0010g0096 a0001c0002t0010g0214 a0001c0003t0002g0164 a0001c0003t0003g0050 a0001c0003t0003g0098 a0001c0003t0011g0042 a0001c0003t0051g0038 a0001c0003t0104g0228 a0002c0005t0011g0218	16	256	0.0625	38	c.439 others(57): Show c.439+14268_439+14305dupATGTGTGTATATATATATGATATATA TATCAAATATAT	ZNF385D	ENSG00000151789.13	transcript	ENST00000281523.8	protein_coding	4/7			chr3	TogoVar
ZNF385D_chr3_21407218_21756210	21608012	C C	CTTTTTTT others(31): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0022 a0001c0003t0022	a0001c0003t0022g0034 a0001c0003t0022g0034	1	256	0.0039	38	c.166 others(57): Show c.166-43329_166-43328insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAA	ZNF385D	ENSG00000151789.13	transcript	ENST00000281523.8	protein_coding	2/7			chr3	TogoVar
ZNF423_chr16_49482524_49861112	49590029	A A	AATATATA others(31): Show AATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03942.hp1 HG01109.hp2 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0005 a0001c0001t0001 a0001c0002t0005	a0001c0001t0001g0047 a0001c0002t0005g0084 a0001c0001t0001g0047 a0001c0002t0005g0084	2	196	0.0102	38	c.360 others(59): Show c.3601+36140_3601+36141insATATATATATATATATATATATAT ATATATATATATAT	ZNF423	ENSG00000102935.12	transcript	ENST00000563137.7	protein_coding	5/7			chr16	TogoVar
ZNF423_chr16_49482524_49861112	49590050	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA19081.hp2 NA18939.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0021 a0001c0002t0002 a0001c0001t0021 a0001c0002t0002	a0001c0001t0021g0004 a0001c0002t0002g0192 a0001c0001t0021g0004 a0001c0002t0002g0192	2	196	0.0102	38	c.360 others(59): Show c.3601+36119_3601+36120insCATATATATATATATATATATATA TATATATATATATA	ZNF423	ENSG00000102935.12	transcript	ENST00000563137.7	protein_coding	5/7			chr16	TogoVar
ZNF423_chr16_49482524_49861112	49709168	T T	TTATATAT others(31): Show TTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0019	a0001c0002t0019g0168 a0001c0002t0019g0168	1	196	0.0051	38	c.301 others(57): Show c.301+21602_301+21603insTATATATATATATATATATATATATA TATATATATATA	ZNF423	ENSG00000102935.12	transcript	ENST00000563137.7	protein_coding	3/7			chr16	TogoVar
ZNF423_chr16_49482524_49861112	49751858	A A	AGCCACAG others(31): Show AGCCACAGTCTGTTTTTCTTCCTTCCAAGGCTAAGGTTC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0104 a0001c0002t0006g0104	1	196	0.0051	38	c.101 others(57): Show c.101-20925_101-20888dupGAACCTTAGCCTTGGAAGGAAGAAAA ACAGACTGTGGC	ZNF423	ENSG00000102935.12	transcript	ENST00000563137.7	protein_coding	2/7			chr16	TogoVar
ZNF425_chr7_149097784_149131324	149128780	T T	TAAAATAA others(31): Show TAAAATAAAATTATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0007 a0002c0004t0007	a0002c0004t0007g0041 a0002c0004t0007g0041	1	320	0.0031	38	c.-25 others(49): Show c.-2568_-2567insTATATATATATATATATATATATATATAATTTTA TTTT	ZNF425	ENSG00000204947.9	transcript	ENST00000378061.7	protein_coding		2457		chr7	TogoVar
ZNF43_chr19_21799946_21841182	21815486	C C	CATATATA others(31): Show CATATATATATATATATATATATATATATGTATATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0090 a0001c0001t0005g0090	1	380	0.0026	38	c.229 others(55): Show c.229+2401_229+2402insATATATATACATATATATATATATATAT ATATATATAT	ZNF43	ENSG00000198521.12	transcript	ENST00000354959.9	protein_coding	3/3			chr19	TogoVar

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Search Results (Total: 5880 hits)