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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⚠️ 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
VAPA_chr18_9909016_9965021	9911952	G G	GCCTGTAA others(97): Show GCCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGGTGGATCACTAGGTC AGTCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACTAGG TCAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	386	0.0026	104	c.-23 others(115): Show c.-2305_-2304insCCTGTAATCCCAACACTTTGGGAGGCCAAGGCGG GTGGATCACTAGGTCAGTCCTGTAATCCCAGCACTTTGGGAGGCCAAGGC GGGTGGATCACTAGGTCAGT	VAPA	ENSG00000101558.14	transcript	ENST00000400000.7	protein_coding		2063		chr18	TogoVar
VAV1_chr19_6767708_6862361	6814671	C C	CCTTCCTT others(97): Show CCTTCCTTCCTTCCTTCCTTTCTTTCTTCCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCCTTCTTTCTTTCTTTCCTTCTTTCTT TCTTT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0291 a0001c0001t0001g0291	1	306	0.0033	104	c.205 others(121): Show c.205-6028_205-6027insCCTTCCTTCCTTCCTTTCTTTCTTCCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTCTTTC TTTCTTTCCTTCTTTCTTTCTTTCTT	VAV1	ENSG00000141968.8	transcript	ENST00000602142.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr19	TogoVar
VAV1_chr19_6767708_6862361	6814671	C C	CCTTCCTT others(97): Show CCTTCCTTCCTTCCTTCCTTTCTTTCTTCCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTCTTTCTTTCTTTCCTTCTT TCTTT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	306	0.0033	104	c.205 others(121): Show c.205-6028_205-6027insCCTTCCTTCCTTCCTTTCTTTCTTCCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTC TTTCTTTCTTTCCTTCTTTCTTTCTT	VAV1	ENSG00000141968.8	transcript	ENST00000602142.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr19	TogoVar
VAV1_chr19_6767708_6862361	6814671	C C	CCTTCCTT others(97): Show CCTTCCTTCCTTCCTTTCTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCCTTCTTTCTTTCCTTCCTTCTTTCTT TCTTT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	306	0.0033	104	c.205 others(121): Show c.205-6028_205-6027insCCTTCCTTCCTTTCTTCCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTCTTTC TTTCCTTCCTTCTTTCTTTCTTTCTT	VAV1	ENSG00000141968.8	transcript	ENST00000602142.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr19	TogoVar
VAV1_chr19_6767708_6862361	6814671	C C	CCTTCCTT others(97): Show CCTTCCTTCCTTCCTTTCTTTCTTCCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCCTTCTTTCTTTCTTTCCTTCTTTCTTTCTTTCTTTCTT TCTTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	306	0.0033	104	c.205 others(121): Show c.205-6028_205-6027insCCTTCCTTCCTTTCTTTCTTCCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTCTTTCTTTCTTTCCTTC TTTCTTTCTTTCTTTCTTTCTTTCTT	VAV1	ENSG00000141968.8	transcript	ENST00000602142.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr19	TogoVar
VAV1_chr19_6767708_6862361	6814671	C C	CCTTCCTT others(97): Show CCTTCCTTCCTTCCTTTCTTTCTTCCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCCTTCTTTCTTTCTTTCCTTCTTTCTTTCTTTCTT TCTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03486.hp2 HG02055.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0302 a0001c0001t0001g0046 a0001c0001t0001g0302	2	306	0.0065	104	c.205 others(121): Show c.205-6028_205-6027insCCTTCCTTCCTTTCTTTCTTCCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTCTTTCTTTCTTTC CTTCTTTCTTTCTTTCTTTCTTTCTT	VAV1	ENSG00000141968.8	transcript	ENST00000602142.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr19	TogoVar
VAV1_chr19_6767708_6862361	6814671	C C	CCTTCCTT others(97): Show CCTTCCTTCCTTTCTTTCTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCCTTCTTTCTTTCTTTCCTTCTTTCTTTCTT TCTTT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	306	0.0033	104	c.205 others(121): Show c.205-6028_205-6027insCCTTCCTTTCTTTCTTCCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTCTTTCTTTC TTTCCTTCTTTCTTTCTTTCTTTCTT	VAV1	ENSG00000141968.8	transcript	ENST00000602142.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr19	TogoVar
VEGFB_chr11_64229584_64244264	64237127	G G	GAGAGAGA others(97): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGATATATATATATATATATATATATATATATATATATATATATA TATAT	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0123 a0001c0002t0001g0123	1	328	0.0031	104	c.375 others(117): Show c.375-59_375-58insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGATATATATATATATATATATATATATA TATATATATATATATATATATA	VEGFB	ENSG00000173511.10	transcript	ENST00000309422.7	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr11	TogoVar
VEGFB_chr11_64229584_64244264	64237127	G G	GAGAGAGA others(97): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGATATATATATATATATATATATATATATATATATATATATATATATA TATAT	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0125 a0001c0002t0001g0125	1	328	0.0031	104	c.375 others(117): Show c.375-59_375-58insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGATATATATATATATATATATATATATATATA TATATATATATATATATATATA	VEGFB	ENSG00000173511.10	transcript	ENST00000309422.7	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr11	TogoVar
VIPR2_chr7_159023175_159149867	159101869	C C	CACTGTTC others(97): Show CACTGTTCCTGTGGTAGTGAACGGGTCTCACGAGATCCGACGAGGCGGTT CCAACTGTTCCTGTGGTAGTGAATGAGTCTCACGAGATCCGACGAGGTGG TTCCG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01106.hp1 HG00642.hp1 HG01106.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0236 a0001c0002t0005g0262 a0001c0002t0005g0236 a0001c0002t0005g0262	2	336	0.0060	104	c.357 others(121): Show c.357+1784_357+1887dupCGGAACCACCTCGTCGGATCTCGTGAGA CTCATTCACTACCACAGGAACAGTTGGAACCGCCTCGTCGGATCTCGTGA GACCCGTTCACTACCACAGGAACAGT	VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding	4/12			chr7	TogoVar
VIPR2_chr7_159023175_159149867	159146932	A A	AGTCATCT others(97): Show AGTCATCTATCATCTGCCTATTTGTCATCTATCTGTGATCTATCATATCT GTGATCTGCCTGTCATCTATCAGTCATCTATCATCTGCCTATCTGTCATC TGCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 HG03225.hp2 NA19088.hp2 others(1): Show HG03209.hp2 HG03225.hp2 NA19088.hp2 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0053 a0001c0002t0007 a0001c0002t0053	a0001c0002t0007g0007 a0001c0002t0007g0156 a0001c0002t0007g0157 others(1): Show a0001c0002t0007g0007 a0001c0002t0007g0156 a0001c0002t0007g0157 a0001c0002t0053g0274	4	336	0.0119	104	c.-21 others(115): Show c.-2162_-2161insAGGCAGATGACAGATAGGCAGATGATAGATGACT GATAGATGACAGGCAGATCACAGATATGATAGATCACAGATAGATGACAA ATAGGCAGATGATAGATGAC	VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding		2066		chr7	TogoVar
VPS16_chr20_2835745_2871732	2842829	T T	TATAGATG others(97): Show TATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGA TGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATC GATAG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01261.hp2 HG01496.hp2 others(2): Show HG00099.hp2 HG01261.hp2 HG01496.hp2 HG01981.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0108 a0001c0001t0001g0109 others(1): Show a0001c0001t0001g0012 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110	5	408	0.0123	104	c.53+ others(119): Show c.53+2072_53+2073insGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGAT	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr20	TogoVar
WSCD1_chr17_6065379_6129427	6094838	G G	GGCAGAAG others(97): Show GGCAGAAGCAAGAGAAGGAAGGAAGGGAGGGAGGGAGGAAGGAAGGAAGG GAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAATGACTTATGGAG AACTA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02280.hp1 HG02486.hp2 others(6): Show HG02257.hp2 HG02280.hp1 HG02486.hp2 HG02922.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 NA18522.hp2 NA20300.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0002 a0003c0005 a0005c0010 a0001c0002 a0003c0005 a0005c0010	a0001c0002t0026 a0003c0005t0014 a0003c0005t0020 others(3): Show a0001c0002t0026 a0003c0005t0014 a0003c0005t0020 a0003c0005t0022 a0003c0005t0074 a0005c0010t0040	a0001c0002t0026g0204 a0001c0002t0026g0205 a0003c0005t0014g0193 others(6): Show a0001c0002t0026g0204 a0001c0002t0026g0205 a0003c0005t0014g0193 a0003c0005t0020g0350 a0003c0005t0020g0351 a0003c0005t0022g0343 a0003c0005t0074g0387 a0005c0010t0040g0042 a0005c0010t0040g0043	9	430	0.0209	104	c.728 others(119): Show c.728-251_728-250insAAGGAAGGAAGGGAGGGAGGGAGGAAGGAA GGAAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAATGACTT ATGGAGAACTAGCAGAAGCAAGAG	WSCD1	ENSG00000179314.16	transcript	ENST00000317744.10	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
ZBTB46_chr20_63738670_63836264	63824782	A A	ATCTCACC others(97): Show ATCTCACCGTCATCAAACCCTCCCTCCCCCATCTTCCCATCACTGCACCC CCGTCTCACCGTCATCAAACCCTCCCTCCCCCATCTTCCCATCACTGCAC CCCCG	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01928.hp2 HG01934.hp2 others(1): Show HG01358.hp2 HG01928.hp2 HG01934.hp2 HG02683.hp2	a0001 a0001	a0001c0004 a0001c0005 a0001c0004 a0001c0005	a0001c0004t0006 a0001c0005t0006 a0001c0004t0006 a0001c0005t0006	a0001c0004t0006g0192 a0001c0004t0006g0193 a0001c0004t0006g0194 others(1): Show a0001c0004t0006g0192 a0001c0004t0006g0193 a0001c0004t0006g0194 a0001c0005t0006g0191	4	316	0.0127	104	c.-34 others(121): Show c.-34+6211_-34+6314dupCGGGGGTGCAGTGATGGGAAGATGGGGG AGGGAGGGTTTGATGACGGTGAGACGGGGGTGCAGTGATGGGAAGATGGG GGAGGGAGGGTTTGATGACGGTGAGA	ZBTB46	ENSG00000130584.12	transcript	ENST00000245663.9	protein_coding	1/4			chr20	TogoVar
ZBTB46_chr20_63738670_63836264	63825085	T T	TGCACCCC others(97): Show TGCACCCCCGTCTCACCGTCATCAAACCCTCCCTCCCCCATCTTCCCATC ACCGCACCCCCGTCTCACCGTCATCAAACCCTCCTTCCCCCATCTTCCCA TCACC	intron_variant intron_variant	MODIFIER	HG02976.hp1 NA19240.hp1 HG02976.hp1 NA19240.hp1	a0002 a0002	a0002c0003 a0002c0023 a0002c0003 a0002c0023	a0002c0003t0011 a0002c0023t0010 a0002c0003t0011 a0002c0023t0010	a0002c0003t0011g0295 a0002c0023t0010g0296 a0002c0003t0011g0295 a0002c0023t0010g0296	2	316	0.0063	104	c.-34 others(121): Show c.-34+6011_-34+6012insGGTGATGGGAAGATGGGGGAAGGAGGGT TTGATGACGGTGAGACGGGGGTGCGGTGATGGGAAGATGGGGGAGGGAGG GTTTGATGACGGTGAGACGGGGGTGC	ZBTB46	ENSG00000130584.12	transcript	ENST00000245663.9	protein_coding	1/4			chr20	TogoVar
ZC3H12B_chrX_65029826_65512887	65373895	A A	ATATATAT others(97): Show ATATATATATATATATATACTATATATATAGTATATATATATAGTTTATA TATATACTATATATATAGTATATATATATAGTTAATATATATACTATATA TATAG	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	165	0.0061	104	c.-26 others(123): Show c.-269+4909_-269+4910insTATATACTATATATATAGTATATATA TATAGTTTATATATATACTATATATATAGTATATATATATAGTTAATATA TATACTATATATATAGTATATATATATA	ZC3H12B	ENSG00000102053.13	transcript	ENST00000338957.5	protein_coding	4/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
ZC3H12B_chrX_65029826_65512887	65373907	A A	ATATATAT others(97): Show ATATATATACTATATATATAGTATATATATATATATATATACTATATATA TAGTATATATATATAGTTTATATATATATACTATATATATAGTATATATA TATAG	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0010 a0001c0001t0007g0010	1	165	0.0061	104	c.-26 others(123): Show c.-269+4909_-269+4910insTATATATACTATATATATAGTATATA TATATATATATATACTATATATATAGTATATATATATAGTTTATATATAT ATACTATATATATAGTATATATATATAG	ZC3H12B	ENSG00000102053.13	transcript	ENST00000338957.5	protein_coding	4/9			chrX	TogoVar
ZC3H12B_chrX_65029826_65512887	65450571	G G	GTATATAT others(97): Show GTATATATATGTATATATGCATATATATACATATGTATATATGCATATAT ATACATATGTATATATGCATATATATACATATGTATATATGCATATATAT ACATA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0117 a0001c0001t0008g0117	1	165	0.0061	104	c.-15 others(125): Show c.-156-38074_-156-38073insATATATATGTATATATGCATATAT ATACATATGTATATATGCATATATATACATATGTATATATGCATATATAT ACATATGTATATATGCATATATATACATAT	ZC3H12B	ENSG00000102053.13	transcript	ENST00000338957.5	protein_coding	5/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
ZC3H12B_chrX_65029826_65512887	65450769	G G	GTATACAT others(97): Show GTATACATATGTGTATATATGTATATGTATACATATGTGTATATATGTAT ATATATACATATGTGTATATATGTATATATATACATATGTGTATATATGT ATATA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	165	0.0061	104	c.-15 others(125): Show c.-156-37852_-156-37851insGTATACATATGTGTATATATGTAT ATATATACATATGTGTATATATGTATATATATACATATGTGTATATATGT ATATATATACATATGTGTATATATGTATAT	ZC3H12B	ENSG00000102053.13	transcript	ENST00000338957.5	protein_coding	5/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
ZC4H2_chrX_64910807_64981450	64954356	T T	TTATATAT others(97): Show TTATATATATATATATATATATAATTATATATATATATAATTATATATAT ATATAATTATATATATATATAATTATATATATATATATATATATATAATT ATATA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0029 a0001c0001t0002g0029	1	208	0.0048	104	c.53+ others(121): Show c.53+21968_53+21969insTATATAATTATATATATATATATATATA TATAATTATATATATATATAATTATATATATATATAATTATATATATATA TAATTATATATATATATATATATATA	ZC4H2	ENSG00000126970.17	transcript	ENST00000374839.8	protein_coding	1/4			chrX	TogoVar
ZDHHC11B_chr5_705355_789729	711816	A A	ATTTCTCA others(97): Show ATTTCTCAGTACTGTGCTCCCATTTCCCAGCACTATGCTCCCATTTCCCA GTACTGTGCTCCCATTTCCCAATACTGTGCTCCCATTTTGCAGTGCTGTA AGCCG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0044 a0001c0004t0044	a0001c0004t0044g0011 a0001c0004t0044g0011	1	271	0.0037	104	c.47 others(113): Show c.473_*474insCGGCTTACAGCACTGCAAAATGGGAGCACAGTATTG GGAAATGGGAGCACAGTACTGGGAAATGGGAGCATAGTGCTGGGAAATGG GAGCACAGTACTGAGAAA	ZDHHC11B	ENSG00000206077.14	transcript	ENST00000508859.8	protein_coding	14/14	4991		chr5	TogoVar
ZEB1_chr10_31314216_31534804	31533165	C C	CCATTATG others(97): Show CCATTATGCAAAAATCAATCATATACTATCTAGTGATAAGAATGGAAAAC AGAGGAATTTGCAAAAAACTAGAAAAGGTGAATTTAAAGTTCCAAGATAC ATAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp2 HG00738.hp1 others(48): Show HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01123.hp2 HG01243.hp2 HG01884.hp1 HG01891.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02258.hp2 HG02280.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02723.hp2 HG02738.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG03098.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03516.hp2 HG03579.hp2 HG03654.hp2 HG03927.hp2 NA18522.hp1 NA19043.hp1 NA19043.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA21309.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0010 a0001c0015 others(2): Show a0001c0001 a0001c0010 a0001c0015 a0002c0003 a0005c0006	a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 others(13): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0014 a0001c0001t0016 a0001c0001t0022 a0001c0001t0027 a0001c0010t0024 a0001c0015t0005 a0002c0003t0015 a0002c0003t0023 a0002c0003t0030 a0002c0003t0031 a0002c0003t0034 a0005c0006t0016	a0001c0001t0003g0003 a0001c0001t0003g0004 a0001c0001t0005g0100 others(48): Show a0001c0001t0003g0003 a0001c0001t0003g0004 a0001c0001t0005g0100 a0001c0001t0005g0102 a0001c0001t0005g0103 a0001c0001t0005g0105 a0001c0001t0005g0106 a0001c0001t0005g0107 a0001c0001t0005g0108 a0001c0001t0005g0109 a0001c0001t0005g0110 a0001c0001t0005g0112 a0001c0001t0005g0113 a0001c0001t0005g0114 a0001c0001t0005g0158 a0001c0001t0005g0159 a0001c0001t0007g0071 a0001c0001t0007g0072 a0001c0001t0007g0073 a0001c0001t0007g0074 a0001c0001t0007g0104 a0001c0001t0007g0179 a0001c0001t0007g0180 a0001c0001t0007g0181 a0001c0001t0007g0182 a0001c0001t0007g0183 a0001c0001t0007g0184 a0001c0001t0007g0185 a0001c0001t0008g0002 a0001c0001t0008g0154 a0001c0001t0014g0186 a0001c0001t0014g0187 a0001c0001t0014g0188 a0001c0001t0014g0189 a0001c0001t0016g0160 a0001c0001t0022g0099 a0001c0001t0022g0101 a0001c0001t0027g0005 a0001c0010t0024g0162 a0001c0015t0005g0111 a0002c0003t0015g0171 a0002c0003t0015g0172 a0002c0003t0015g0173 a0002c0003t0015g0174 a0002c0003t0023g0170 a0002c0003t0023g0175 a0002c0003t0030g0177 a0002c0003t0031g0169 a0002c0003t0034g0176 a0005c0006t0016g0161 a0005c0006t0016g0178	51	200	0.2550	104	c.59 others(115): Show c.5901_*5902insCATTATGCAAAAATCAATCATATACTATCTAGTG ATAAGAATGGAAAACAGAGGAATTTGCAAAAAACTAGAAAAGGTGAATTT AAAGTTCCAAGATACATAGT	ZEB1	ENSG00000148516.23	transcript	ENST00000424869.6	protein_coding		3362		chr10	TogoVar
ZFPM1_chr16_88448280_88542031	88468125	C C	CGCACCCG others(97): Show CGCACCCGCGAGCCCACTGCCCCTGACCCACCCGCGAGCCCACAGGCCCT GACGCACCCGCGAGCCCACCGCCCCTCAAGCACCCGCGAGCCCACCGCCC CTCAA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02647.hp2 HG03195.hp1 others(1): Show HG02486.hp2 HG02647.hp2 HG03195.hp1 HG03579.hp1	a0001 a0005 a0026 a0001 a0005 a0026	a0001c0001 a0005c0007 a0026c0070 a0001c0001 a0005c0007 a0026c0070	a0001c0001t0010 a0001c0001t0028 a0005c0007t0009 others(1): Show a0001c0001t0010 a0001c0001t0028 a0005c0007t0009 a0026c0070t0028	a0001c0001t0010g0307 a0001c0001t0028g0309 a0005c0007t0009g0308 others(1): Show a0001c0001t0010g0307 a0001c0001t0028g0309 a0005c0007t0009g0308 a0026c0070t0028g0310	4	318	0.0126	104	c.40+ others(121): Show c.40+14464_40+14567dupTGCCCCTGACCCACCCGCGAGCCCACAG GCCCTGACGCACCCGCGAGCCCACCGCCCCTCAAGCACCCGCGAGCCCAC CGCCCCTCAAGCACCCGCGAGCCCAC	ZFPM1	ENSG00000179588.9	transcript	ENST00000319555.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
ZMIZ1_chr10_79063966_79321519	79159059	G G	GTGCCTGG others(97): Show GTGCCTGGGAGAGCTATCTGAGCATTGGGGTCCCTGCCTCATGGGGAGAT TGGGTGGGCTTCCACTGGCCTTGAGGCTCAGGCTGCACTCACTCCGTGGC ACCCC	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0224 a0001c0001t0003g0224	1	288	0.0035	104	c.-13 others(123): Show c.-130-2892_-130-2891insCCTGCCTGGGAGAGCTATCTGAGCAT TGGGGTCCCTGCCTCATGGGGAGATTGGGTGGGCTTCCACTGGCCTTGAG GCTCAGGCTGCACTCACTCCGTGGCACC	ZMIZ1	ENSG00000108175.19	transcript	ENST00000334512.10	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr10	TogoVar
ZNF182_chrX_47969851_48008989	47971628	T T	TATACATG others(97): Show TATACATGTGTGTATATGCATACATATACATGTGTGTATATGCATACACA TGCATATACGTGTGTATATGCATACACATGCATATACGTGTGTATATGCA TACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0039 a0001c0001t0009g0039	1	270	0.0037	104	c.45 others(115): Show c.4538_*4539insGTGTATGCATATACACACGTATATGCATGTGTAT GCATATACACACGTATATGCATGTGTATGCATATACACACATGTATATGT ATGCATATACACACATGTAT	ZNF182	ENSG00000147118.12	transcript	ENST00000376943.8	protein_coding		3222		chrX	TogoVar
ZNF212_chr7_149234651_149260606	149255645	T T	TCTCCTGG others(97): Show TCTCCTGGGGCCAAGGTGGAGGAGAGGCACCTGACCTGGTCAGGTCAGGT CAGGTCAGGTCAGGTCAGGTCAGGTCAGGTCAGGTCAGGTCAGGTGCCTC TCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0018 a0001c0001t0002g0018	1	406	0.0025	104	c.12 others(115): Show c.1230_*1231insCTCCTGGGGCCAAGGTGGAGGAGAGGCACCTGAC CTGGTCAGGTCAGGTCAGGTCAGGTCAGGTCAGGTCAGGTCAGGTCAGGT CAGGTCAGGTGCCTCTCCTC	ZNF212	ENSG00000170260.9	transcript	ENST00000335870.7	protein_coding		40		chr7	TogoVar
ZNF280D_chr15_56625176_56738509	56669997	T T	TTATATAT others(97): Show TTATATATATATTATATATATATATATTATATATATAATATATATATATA TTATATATATATAATATATATATATATTATATATATATATTATATATATA TAATA	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	386	0.0026	104	c.141 others(123): Show c.1411-1041_1411-1040insTATTATATATATATAATATATATATA TAATATATATATATATTATATATATATAATATATATATATATTATATATA TAATATATATATATATAATATATATATA	ZNF280D	ENSG00000137871.21	transcript	ENST00000267807.12	protein_coding	13/21			chr15	TogoVar
ZNF280D_chr15_56625176_56738509	56669997	T T	TTATATAT others(97): Show TTATATATATATTATATATATATTATATATATATTATATATATATATATT ATATATATATATATTATATATATATAATATATATATATATTATATATATA TAATA	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0118 a0001c0001t0007g0118	1	386	0.0026	104	c.141 others(123): Show c.1411-1041_1411-1040insTATTATATATATATAATATATATATA TATTATATATATATAATATATATATATATAATATATATATATATAATATA TATATAATATATATATAATATATATATA	ZNF280D	ENSG00000137871.21	transcript	ENST00000267807.12	protein_coding	13/21			chr15	TogoVar
ZNF365_chr10_62369369_62407450	62369791	T T	TATATATG others(97): Show TATATATGTCCCATATCTATCTCATATATATGTCCCATATATATCTATCT CATATATATGTCCCATATATATCTATCTCATATATATGTCCCATATATCT ATCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 HG01255.hp1 HG02257.hp1 others(5): Show HG00609.hp2 HG01255.hp1 HG02257.hp1 HG02735.hp1 HG02970.hp2 HG03654.hp2 NA18949.hp1 NA18964.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0022 a0001c0001t0025 a0002c0002t0001 a0001c0001t0022 a0001c0001t0025 a0002c0002t0001	a0001c0001t0022g0068 a0001c0001t0025g0069 a0002c0002t0001g0001 others(3): Show a0001c0001t0022g0068 a0001c0001t0025g0069 a0002c0002t0001g0001 a0002c0002t0001g0006 a0002c0002t0001g0014 a0002c0002t0001g0095	8	350	0.0229	104	c.-46 others(115): Show c.-4681_-4680insATATATGTCCCATATCTATCTCATATATATGTCC CATATATATCTATCTCATATATATGTCCCATATATATCTATCTCATATAT ATGTCCCATATATCTATCTC	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		4577		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62369791	T T	TATATATG others(97): Show TATATATGTCCCATATCTATCTCATATATATGTCCCATATATATCTATCT CATATATATGTCCCATATATATCTATCTCATATATATGTCGCATATATCT ATCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0017 a0001c0001t0004g0017	1	350	0.0029	104	c.-46 others(115): Show c.-4681_-4680insATATATGTCCCATATCTATCTCATATATATGTCC CATATATATCTATCTCATATATATGTCCCATATATATCTATCTCATATAT ATGTCGCATATATCTATCTC	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		4577		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62369791	T T	TATATATG others(97): Show TATATATGTCCCATATCTATCTCATATATATGTCCCATATATATCTATCT CATATATATGTCCCATATATCTATCTCATATATATGTCCCATATATACAT ATCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0084 a0002c0002t0001g0084	1	350	0.0029	104	c.-46 others(115): Show c.-4681_-4680insATATATGTCCCATATCTATCTCATATATATGTCC CATATATATCTATCTCATATATATGTCCCATATATCTATCTCATATATAT GTCCCATATATACATATCTC	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		4577		chr10	TogoVar
ZNF385B_chr2_179436982_179866612	179493747	G G	GTGTATAT others(97): Show GTGTATATGTATATATGTATACATATATGTATATGCATATATGTATACAT ATATGTATATGCATATATGTATACATATATGTATATGCATATATGTATAC ATATA	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0032	1	118	0.0085	104	c.553 others(123): Show c.553-10314_553-10313insTATATGTATACATATATGCATATACA TATATGTATACATATATGCATATACATATATGTATACATATATGCATATA CATATATGTATACATATATACATATACA	ZNF385B	ENSG00000144331.20	transcript	ENST00000410066.7	protein_coding	5/9			chr2	TogoVar
ZNF385B_chr2_179436982_179866612	179493775	G G	GTATATAC others(97): Show GTATATACATATATGTATACATATGTGTATATACATATATGTATACATAT GTGTATATACATATATGTATACATATGTGTATATACATATATGTATACAT ATGTA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	118	0.0085	104	c.553 others(123): Show c.553-10342_553-10341insTACATATGTATACATATATGTATATA CACATATGTATACATATATGTATATACACATATGTATACATATATGTATA TACACATATGTATACATATATGTATATA	ZNF385B	ENSG00000144331.20	transcript	ENST00000410066.7	protein_coding	5/9			chr2	TogoVar
ZNF470_chr19_56562468_56587894	56572389	T T	TATATATG others(97): Show TATATATGTGTATATATATATACACATATATATATATGTATATATATATA TACACATATATATATATATATATATATATATATATATATACACATATATA TATAA	intron_variant intron_variant	MODIFIER	HG02135.hp2 NA19068.hp2 HG02135.hp2 NA19068.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0124 a0004c0005t0002g0131 a0004c0005t0002g0124 a0004c0005t0002g0131	2	420	0.0048	104	c.61- others(119): Show c.61-2004_61-2003insTATATGTGTATATATATATACACATATATA TATATGTATATATATATATACACATATATATATATATATATATATATATA TATATATACACATATATATATAAA	ZNF470	ENSG00000197016.12	transcript	ENST00000330619.13	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF470_chr19_56562468_56587894	56572389	T T	TATATGTA others(97): Show TATATGTATATATATATATACACATATATATATATGTATATATATATATA CACATATATATATATATATATATATATATATATATATATACACATATATA TATAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02622.hp2 HG02280.hp1 HG02622.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0022 a0002c0003t0002 a0002c0003t0022	a0002c0003t0002g0067 a0002c0003t0022g0126 a0002c0003t0002g0067 a0002c0003t0022g0126	2	420	0.0048	104	c.61- others(119): Show c.61-2004_61-2003insTATGTATATATATATATACACATATATATA TATGTATATATATATATACACATATATATATATATATATATATATATATA TATATATACACATATATATATAAA	ZNF470	ENSG00000197016.12	transcript	ENST00000330619.13	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF544_chr19_58223914_58268644	58241179	A A	AAATATAT others(97): Show AAATATATATATATATTTAAATATATATATATTTAAATATATATATATAT TTAAATATATATATATATATATATATATATATATATATATATATATATTT TTTTT	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0205 a0003c0003t0004g0205	1	394	0.0025	104	c.-59 others(121): Show c.-59-2786_-59-2785insAATATATATATATATTTAAATATATATA TATTTAAATATATATATATATTTAAATATATATATATATATATATATATA TATATATATATATATATATTTTTTTT	ZNF544	ENSG00000198131.15	transcript	ENST00000687789.1	protein_coding	3/6			chr19	TogoVar
ZNF681_chr19_23734195_23763891	23761901	A A	ATTCTTTC others(97): Show ATTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTCTC TCTCTCTCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18956.hp1 NA18981.hp2 NA19083.hp1 NA18956.hp1 NA18981.hp2 NA19083.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0003 a0002c0002t0001 a0002c0002t0003	a0002c0002t0001g0012 a0002c0002t0001g0051 a0002c0002t0003g0227 a0002c0002t0001g0012 a0002c0002t0001g0051 a0002c0002t0003g0227	3	394	0.0076	104	c.-31 others(115): Show c.-3153_-3152insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAAAGAGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAA	ZNF681	ENSG00000196172.9	transcript	ENST00000402377.3	protein_coding		3011		chr19	TogoVar
ZNF681_chr19_23734195_23763891	23761901	A A	ATTCTTTC others(97): Show ATTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTC TCTCTCTCTCTCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp1 NA19077.hp1 NA19079.hp2 HG02071.hp1 NA19077.hp1 NA19079.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0004 a0002c0002t0001g0022 a0002c0002t0001g0004 a0002c0002t0001g0022	3	394	0.0076	104	c.-31 others(115): Show c.-3153_-3152insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAAAGAGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAA	ZNF681	ENSG00000196172.9	transcript	ENST00000402377.3	protein_coding		3011		chr19	TogoVar
ZNF681_chr19_23734195_23763891	23761901	A A	ATTCTTTC others(97): Show ATTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTCTCTCTCTCTCTCTCTCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0022 a0002c0002t0001g0022	1	394	0.0025	104	c.-31 others(115): Show c.-3153_-3152insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAA AGAGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAA	ZNF681	ENSG00000196172.9	transcript	ENST00000402377.3	protein_coding		3011		chr19	TogoVar
ZNF681_chr19_23734195_23763891	23761902	T T	TTCTTTCT others(97): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTCTCTCTCT CTCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0229 a0002c0002t0003g0229	1	394	0.0025	104	c.-31 others(115): Show c.-3154_-3153insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAAAGAGAGAGAGAGAGAGAGAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGA	ZNF681	ENSG00000196172.9	transcript	ENST00000402377.3	protein_coding		3012		chr19	TogoVar
ZNF717_chr3_75730868_75790549	75779552	A A	AAACCCAA others(97): Show AAACCCAAAACAACGGGAGTGACGTGCTAAAACCGCAACCCAAAACACTG GGAGAGATGTGCTAAACAGGAACCCAAAACAATGGGAGTGACGTGCTAAA ACCAG	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0004 a0004c0004t0004	a0004c0004t0004g0034 a0004c0004t0004g0034	1	360	0.0028	104	c.57+ others(119): Show c.57+3650_57+3753dupCTGGTTTTAGCACGTCACTCCCATTGTTTT GGGTTCCTGTTTAGCACATCTCTCCCAGTGTTTTGGGTTGCGGTTTTAGC ACGTCACTCCCGTTGTTTTGGGTT	ZNF717	ENSG00000227124.11	transcript	ENST00000652011.2	protein_coding	2/4			chr3	TogoVar
ZNF804B_chr7_88754700_89343528	89220150	C C	CATGTATA others(97): Show CATGTATATACGCACATATATATGTGCGTGTATATACATGTATATACGCA CATATATATGTGTGTATATACATGTATATACACACACATATATATGTGCG TATAT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0021 a0021	a0021c0019 a0021c0019	a0021c0019t0003 a0021c0019t0003	a0021c0019t0003g0053 a0021c0019t0003g0053	1	166	0.0060	104	c.249 others(121): Show c.249+1857_249+1858insGTATATACGCACATATATATGTGCGTGT ATATACATGTATATACGCACATATATATGTGTGTATATACATGTATATAC ACACACATATATATGTGCGTATATAT	ZNF804B	ENSG00000182348.7	transcript	ENST00000333190.5	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA1_chr9_104776006_104933155	104862701	G G	GGCCGGCC others(98): Show GGCCGGCCCCCCACCCCCACCCCCACCCCCACCCCCACCCCCACCCCCAC CCCCACCCCCACCCCCCACCCCCCACCCCCACCCCCACCCCCCACCCCCA CCCCCA	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0020 a0020	a0020c0045 a0020c0045	a0020c0045t0002 a0020c0045t0002	a0020c0045t0002g0299 a0020c0045t0002g0299	1	318	0.0031	105	c.422 others(120): Show c.422-902_422-901insTGGGGGTGGGGGTGGGGGGTGGGGGTGGGG GTGGGGGGTGGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGG GTGGGGGTGGGGGTGGGGGGCCGGC	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	5/49			chr9	TogoVar
ABCA7_chr19_1035107_1070572	1049472	C C	CCACCACT others(98): Show CCACCACTCCCTCCCCGTGAGGCCCCCACCACTCCCTCCCCGTGAACCCC CCCACCACTCCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTGAGCC CCCCCA	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0012 a0012	a0012c0016 a0012c0016	a0012c0016t0001 a0012c0016t0001	a0012c0016t0001g0024 a0012c0016t0001g0024	1	30	0.0333	105	c.255 others(120): Show c.2552+36_2552+37insACCACTCCCTCCCCGTGAGGCCCCCACCAC TCCCTCCCCGTGAACCCCCCCACCACTCCCCTCCCCGTGAACCCCCCACC ACTCCCTCCCCGTGAGCCCCCCCAC	ABCA7	ENSG00000064687.13	transcript	ENST00000263094.11	protein_coding	18/46		INFO_REALIGN_3_PRIME	chr19	TogoVar
ABCA7_chr19_1035107_1070572	1049822	C C	CCCCCCGA others(98): Show CCCCCCGACCGCTCCCTCCCTGTGAGTCCCCCGACCACTCCCTCCCTTTG AGCCCCCCCGGACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCC CATGAA	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0016 a0016	a0016c0014 a0016c0014	a0016c0014t0002 a0016c0014t0002	a0016c0014t0002g0025 a0016c0014t0002g0025	1	30	0.0333	105	c.255 others(122): Show c.2552+390_2552+391insGACCGCTCCCTCCCTGTGAGTCCCCCGA CCACTCCCTCCCTTTGAGCCCCCCCGGACCACTCCCTCCCCGTGAGGCCC CCCACCACTCCCTCCCCATGAACCCCC	ABCA7	ENSG00000064687.13	transcript	ENST00000263094.11	protein_coding	18/46		INFO_REALIGN_3_PRIME	chr19	TogoVar
ABCC1_chr16_15944616_16148053	15999836	C C	CTCTCTCT others(98): Show CTCTCTCTCTCTCTCTCTGTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0108 a0001c0002t0006g0108	1	249	0.0040	105	c.49- others(120): Show c.49-7977_49-7976insCTCTCTCTCTCTCTGTCTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCT	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABCC4_chr13_95014835_95306451	95244644	A A	AGGAAGGA others(98): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAACGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAG	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0019 a0001c0007t0019	a0001c0007t0019g0026 a0001c0007t0019g0026	1	248	0.0040	105	c.306 others(122): Show c.306+2330_306+2331insCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCGTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCC	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	3/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95244648	A A	AGGAAGGA others(98): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAC GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAG	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0016 a0001c0012t0016	a0001c0012t0016g0089 a0001c0012t0016g0089	1	248	0.0040	105	c.306 others(122): Show c.306+2326_306+2327insCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCGTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCC	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	3/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95244648	A A	AGGAAGGA others(98): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAACGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAG	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0003 a0001c0023t0003	a0001c0023t0003g0073 a0001c0023t0003g0073	1	248	0.0040	105	c.306 others(122): Show c.306+2326_306+2327insCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCGTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCC	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	3/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95244648	A A	AGGAAGGA others(98): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAACGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0077 a0001c0003t0005g0077	1	248	0.0040	105	c.306 others(122): Show c.306+2326_306+2327insCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCGTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCC	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	3/30			chr13	TogoVar

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Search Results (Total: 10000 hits)