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
UNC5D_chr8_35230475_35801540	35728093	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0041 a0001c0003t0005g0041	1	64	0.0156	33	c.168 others(52): Show c.1681+1564_1681+1565insTATATATATATATATATATATATATA TATATAT	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	10/16			chr8	TogoVar
UNC5D_chr8_35230475_35801540	35728095	A A	AAAAAAAA others(26): Show AAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0022 a0001c0003t0003g0022	1	64	0.0156	33	c.168 others(52): Show c.1681+1567_1681+1568insAAAAAAATATATATATATATATATAT ATATATA	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
UPF3A_chr13_114276601_114310817	114299731	A A	AGGGCCCC others(26): Show AGGGCCCCAGGCACCTGGGCTTACCTTCCCCTCC	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0029 a0002c0002t0001g0029	1	450	0.0022	33	c.100 others(50): Show c.1007+735_1007+767dupCCCCAGGCACCTGGGCTTACCTTCCCCT CCGGG	UPF3A	ENSG00000169062.15	transcript	ENST00000375299.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr13	TogoVar
UQCC1_chr20_35297578_35416973	35415764	T T	TGTCGATT others(26): Show TGTCGATTGGGGGTCTTTTAAAGGTGGTATCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0009 a0006c0008t0009	a0006c0008t0009g0001 a0006c0008t0009g0001	1	256	0.0039	33	c.-38 others(44): Show c.-3802_-3801insGAGGATACCACCTTTAAAAGACCCCCAATCGAC	UQCC1	ENSG00000101019.22	transcript	ENST00000374385.10	protein_coding		3792		chr20	TogoVar
UQCR11_chr19_1592169_1610462	1602891	C C	CACTAGCC others(26): Show CACTAGCCACTGAGGAAGGACGTACAGGACCATG	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0049 a0001c0001t0007g0049	1	364	0.0028	33	c.50+ others(48): Show c.50+2468_50+2469insCATGGTCCTGTACGTCCTTCCTCAGTGGCT AGT	UQCR11	ENSG00000127540.12	transcript	ENST00000591899.8	protein_coding	1/2			chr19	TogoVar
URB1_chr21_32306018_32398012	32361159	A A	AGAAAGAA others(26): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG02145.hp1 HG01978.hp2 HG02145.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0037 a0001c0002t0003 a0001c0002t0037	a0001c0002t0003g0214 a0001c0002t0037g0307 a0001c0002t0003g0214 a0001c0002t0037g0307	2	338	0.0059	33	c.164 others(48): Show c.1640-37_1640-36insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTC	URB1	ENSG00000142207.7	transcript	ENST00000382751.4	protein_coding	12/38			chr21	TogoVar
URB1_chr21_32306018_32398012	32361175	G G	GAAAGAAA others(26): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0031 a0031	a0031c0029 a0031c0029	a0031c0029t0012 a0031c0029t0012	a0031c0029t0012g0020 a0031c0029t0012g0020	1	338	0.0030	33	c.164 others(48): Show c.1640-53_1640-52insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTT	URB1	ENSG00000142207.7	transcript	ENST00000382751.4	protein_coding	12/38			chr21	TogoVar
UROC1_chr3_126476166_126522773	126515696	C C	CCCCAGCA others(26): Show CCCCAGCACCCACCACCTACCCTCCCCCTCATCA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01168.hp2 HG01169.hp1 others(6): Show HG00738.hp1 HG01168.hp2 HG01169.hp1 HG01255.hp2 HG01515.hp2 HG02145.hp1 HG03669.hp1 HG04184.hp1 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0002t0001 a0001c0003t0001 a0001c0001t0002 a0001c0002t0001 a0001c0003t0001	a0001c0001t0002g0036 a0001c0001t0002g0305 a0001c0002t0001g0215 others(5): Show a0001c0001t0002g0036 a0001c0001t0002g0305 a0001c0002t0001g0215 a0001c0002t0001g0302 a0001c0002t0001g0303 a0001c0002t0001g0304 a0001c0002t0001g0307 a0001c0003t0001g0306	9	380	0.0237	33	c.126 others(50): Show c.126+1897_126+1898insTGATGAGGGGGAGGGTAGGTGGTGGGTG CTGGG	UROC1	ENSG00000159650.9	transcript	ENST00000290868.7	protein_coding	1/19			chr3	TogoVar
USP10_chr16_84695000_84784922	84720576	A A	ATTTTTTT others(26): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02080.hp1 NA18975.hp2 HG02080.hp1 NA18975.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0060 a0002c0001t0001g0069 a0002c0001t0001g0060 a0002c0001t0001g0069	2	430	0.0047	33	c.22- others(50): Show c.22-12836_22-12835insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	USP10	ENSG00000103194.16	transcript	ENST00000219473.12	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
USP13_chr3_179648040_179794401	179687659	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01361.hp2 NA19065.hp1 HG01361.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0229 a0001c0001t0001g0082 a0001c0001t0001g0229	2	300	0.0067	33	c.295 others(50): Show c.295-2556_295-2555insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	USP13	ENSG00000058056.10	transcript	ENST00000263966.8	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
USP14_chr18_153557_219629	171025	A A	AAAAAAAT others(26): Show AAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0179 a0001c0001t0003g0179	1	380	0.0026	33	c.195 others(50): Show c.195+4207_195+4208insAAAAATATATATATATATATATATATAT ATATA	USP14	ENSG00000101557.15	transcript	ENST00000261601.8	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr18	TogoVar
USP15_chr12_62255404_62421389	62257162	A A	ATGTGTGT others(26): Show ATGTGTGTGTATATGTATATATACACAATGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG00621.hp2 HG01109.hp1 others(5): Show HG00597.hp1 HG00621.hp2 HG01109.hp1 HG01243.hp1 HG01243.hp2 HG01978.hp2 HG02083.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0019 a0001c0001t0030 a0001c0002t0001 others(1): Show a0001c0001t0019 a0001c0001t0030 a0001c0002t0001 a0001c0002t0005	a0001c0001t0019g0008 a0001c0001t0019g0109 a0001c0001t0030g0008 others(5): Show a0001c0001t0019g0008 a0001c0001t0019g0109 a0001c0001t0030g0008 a0001c0002t0001g0026 a0001c0002t0001g0027 a0001c0002t0001g0043 a0001c0002t0001g0076 a0001c0002t0005g0310	8	348	0.0230	33	c.-32 others(44): Show c.-3253_-3252insTGTGTGTGTATATGTATATATACACAATGTGTG	USP15	ENSG00000135655.16	transcript	ENST00000280377.10	protein_coding		3241		chr12	TogoVar
USP26_chrX_133018168_133102109	133057866	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 NA19065.hp2 HG00408.hp1 NA19065.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0059 a0001c0002t0002g0081 a0001c0002t0002g0059 a0001c0002t0002g0081	2	252	0.0079	33	c.-77 others(52): Show c.-77+25840_-77+25841insAAATATATATATATATATATATATAT ATATATA	USP26	ENSG00000134588.13	transcript	ENST00000511190.6	protein_coding	5/5			chrX	TogoVar
USP26_chrX_133018168_133102109	133057866	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02698.hp1 NA18946.hp2 HG02698.hp1 NA18946.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0047 a0001c0002t0002g0067 a0001c0002t0002g0047 a0001c0002t0002g0067	2	252	0.0079	33	c.-77 others(52): Show c.-77+25840_-77+25841insAAAAATATATATATATATATATATAT ATATATA	USP26	ENSG00000134588.13	transcript	ENST00000511190.6	protein_coding	5/5			chrX	TogoVar
USP26_chrX_133018168_133102109	133057866	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG03654.hp1 HG03704.hp1 HG01256.hp1 HG03654.hp1 HG03704.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0051 a0001c0002t0002g0071 a0001c0002t0002g0084 a0001c0002t0002g0051 a0001c0002t0002g0071 a0001c0002t0002g0084	3	252	0.0119	33	c.-77 others(52): Show c.-77+25840_-77+25841insAAAAAAATATATATATATATATATAT ATATATA	USP26	ENSG00000134588.13	transcript	ENST00000511190.6	protein_coding	5/5			chrX	TogoVar
USP26_chrX_133018168_133102109	133057866	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA19072.hp1 NA18991.hp2 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0207 a0001c0002t0002g0058 a0001c0001t0001g0207 a0001c0002t0002g0058	2	252	0.0079	33	c.-77 others(52): Show c.-77+25840_-77+25841insAAAAAAAAATATATATATATATATAT ATATATA	USP26	ENSG00000134588.13	transcript	ENST00000511190.6	protein_coding	5/5			chrX	TogoVar
USP26_chrX_133018168_133102109	133057866	A A	ATATATAT others(26): Show ATATATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0048 a0001c0002t0002g0048	1	252	0.0040	33	c.-77 others(52): Show c.-77+25840_-77+25841insAAAAAAAAAAAAATATATATATATAT ATATATA	USP26	ENSG00000134588.13	transcript	ENST00000511190.6	protein_coding	5/5			chrX	TogoVar
USP29_chr19_57114985_57136926	57136566	A A	AGGCAGGA others(26): Show AGGCAGGAGAATCATTCGAACTCGGGAGGCGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0016 a0001c0003t0002g0016	1	416	0.0024	33	c.51 others(44): Show c.5122_*5123insGGCAGGAGAATCATTCGAACTCGGGAGGCGGAG	USP29	ENSG00000131864.11	transcript	ENST00000254181.9	protein_coding		4641		chr19	TogoVar
USP34_chr2_61182463_61476087	61387515	G G	GTATATAT others(26): Show GTATATATATTTATATATACACACATATATAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03139.hp1 HG03453.hp2 others(1): Show HG02615.hp2 HG03139.hp1 HG03453.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0008t0001 a0001c0001t0001 a0001c0008t0001	a0001c0001t0001g0160 a0001c0008t0001g0217 a0001c0008t0001g0218 others(1): Show a0001c0001t0001g0160 a0001c0008t0001g0217 a0001c0008t0001g0218 a0001c0008t0001g0219	4	312	0.0128	33	c.754 others(50): Show c.754-4212_754-4180dupTTTTATATATGTGTGTATATATAAATAT ATATA	USP34	ENSG00000115464.15	transcript	ENST00000398571.7	protein_coding	5/79			chr2	TogoVar
USP34_chr2_61182463_61476087	61387532	T T	TACACACA others(26): Show TACACACATATATAAAATATATATATTTATATAC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0220 a0001c0008t0001g0220	1	312	0.0032	33	c.754 others(50): Show c.754-4197_754-4196insGTATATAAATATATATATTTTATATATG TGTGT	USP34	ENSG00000115464.15	transcript	ENST00000398571.7	protein_coding	5/79			chr2	TogoVar
USP49_chr6_41784896_41900375	41793867	C C	CCGGACGA others(26): Show CCGGACGACTGGTGGGGGGGGGGAGGAGGGGAAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0023 a0001c0003t0023	a0001c0003t0023g0165 a0001c0003t0023g0165	1	384	0.0026	33	c.26 others(44): Show c.2665_*2666insCTTCCCCTCCTCCCCCCCCCCACCAGTCGTCCG	USP49	ENSG00000164663.15	transcript	ENST00000682992.1	protein_coding	8/8	2665		chr6	TogoVar
USP50_chr15_50495562_50551666	50496197	T T	TCGGCCGG others(26): Show TCGGCCGGGCGCAGTGGCTCATACCTTGTACTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0261 a0001c0001t0001g0261	1	384	0.0026	33	c.45 others(44): Show c.4539_*4571dupGGAGTACAAGGTATGAGCCACTGCGCCCGGCCG	USP50	ENSG00000170236.16	transcript	ENST00000532404.6	protein_coding		4364		chr15	TogoVar
USP5_chr12_6847150_6871632	6849775	G G	GCAGAACA others(26): Show GCAGAACAGCAAGCCCAGCCAGACCGCAGCAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	390	0.0026	33	c.-24 others(44): Show c.-2405_-2404insCAGAACAGCAAGCCCAGCCAGACCGCAGCAGAA	USP5	ENSG00000111667.14	transcript	ENST00000229268.13	protein_coding		2374		chr12	TogoVar
USP7_chr16_8887097_8968906	8897726	A A	AAATATAT others(26): Show AAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0112 a0001c0001t0002g0112	1	338	0.0030	33	c.271 others(50): Show c.2719-628_2719-627insATATATATATATATATATATATATATAT ATATT	USP7	ENSG00000187555.17	transcript	ENST00000344836.9	protein_coding	25/30			chr16	TogoVar
UST_chr6_148742030_149081990	148871146	C C	CTCTCTCT others(26): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0058 a0001c0001t0003g0058	1	210	0.0048	33	c.248 others(52): Show c.248-15840_248-15839insTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCT	UST	ENSG00000111962.8	transcript	ENST00000367463.5	protein_coding	1/7			chr6	TogoVar
UST_chr6_148742030_149081990	148946510	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0021 a0002c0002t0021	a0002c0002t0021g0010 a0002c0002t0021g0010	1	210	0.0048	33	c.447 others(50): Show c.447+5095_447+5096insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	UST	ENSG00000111962.8	transcript	ENST00000367463.5	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
UTF1_chr10_133225217_133236558	133227483	G G	GCGCCATC others(26): Show GCGCCATCCACTCCCCGGCTCTGTCCCCCCACGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0005 a0001c0001t0005g0005	1	404	0.0025	33	c.-28 others(44): Show c.-2806_-2805insCGCCATCCACTCCCCGGCTCTGTCCCCCCACGC	UTF1	ENSG00000171794.4	transcript	ENST00000304477.3	protein_coding		2733		chr10	TogoVar
UTP20_chr12_101275105_101391618	101310595	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0005 a0002c0005t0005	a0002c0005t0005g0120 a0002c0005t0005g0120	1	356	0.0028	33	c.223 others(50): Show c.2231+759_2231+760insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AGAAA	UTP20	ENSG00000120800.5	transcript	ENST00000261637.5	protein_coding	19/61		INFO_REALIGN_3_PRIME	chr12	TogoVar
UVRAG_chr11_75810210_76149232	76019903	T T	TCCTTCCC others(26): Show TCCTTCCCTTCAGGGCAGCAAGTTTCCCCCGGCC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0034 a0002c0002t0034	a0002c0002t0034g0137 a0002c0002t0034g0137	1	146	0.0069	33	c.122 others(52): Show c.1226+2927_1226+2959dupTCCCTTCAGGGCAGCAAGTTTCCCCC GGCCCCT	UVRAG	ENSG00000198382.9	transcript	ENST00000356136.8	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr11	TogoVar
VAMP7_chrX_155876345_155948769	155876461	A A	AAATTAAC others(26): Show AAATTAACATAGAAATAATTTCTATGTTAATAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG01070.hp1 HG01071.hp2 others(21): Show HG00099.hp2 HG01070.hp1 HG01071.hp2 HG01081.hp2 HG01168.hp1 HG01169.hp1 HG01515.hp1 HG01517.hp2 HG01884.hp1 HG02155.hp2 HG02257.hp2 HG02300.hp1 HG02559.hp2 HG02683.hp1 HG02723.hp1 HG02723.hp2 HG02976.hp2 HG03195.hp1 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG04184.hp1 HG04184.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0024 others(16): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0032 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0002g0003 a0001c0001t0002g0017 a0001c0001t0002g0036 a0001c0001t0002g0133 a0001c0001t0002g0135 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0004g0020 a0001c0001t0006g0018	24	184	0.1304	33	c.-49 others(44): Show c.-4997_-4996insAATTAACATAGAAATAATTTCTATGTTAATAGG	VAMP7	ENSG00000124333.16	transcript	ENST00000286448.12	protein_coding		4883		chrX	TogoVar
VASP_chr19_45502479_45531983	45513468	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp2 NA18998.hp1 HG00609.hp2 NA18998.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0110 a0001c0002t0003g0111 a0001c0002t0003g0110 a0001c0002t0003g0111	2	406	0.0049	33	c.6-4 others(46): Show c.6-4174_6-4173insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	VASP	ENSG00000125753.15	transcript	ENST00000245932.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
VAV1_chr19_6767708_6862361	6789593	C C	CTTCCTTC others(26): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG03209.hp2 others(1): Show HG02896.hp2 HG02897.hp1 HG03209.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0024 others(1): Show a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0002g0025	4	306	0.0131	33	c.204 others(52): Show c.204+16583_204+16584insTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTT	VAV1	ENSG00000141968.8	transcript	ENST00000602142.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr19	TogoVar
VAV1_chr19_6767708_6862361	6832552	T T	TCCTCCTC others(26): Show TCCTCCTCTCCTTCCTCCCCTTCCTCCTCCTCGC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01168.hp2 HG01361.hp1 others(7): Show HG00741.hp2 HG01168.hp2 HG01361.hp1 HG01981.hp1 HG02602.hp2 HG03490.hp2 HG03654.hp1 HG03710.hp2 HG06807.hp2 NA18966.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 a0001c0001t0001 a0001c0002t0001 a0002c0003t0001	a0001c0001t0001g0043 a0001c0001t0001g0060 a0001c0001t0001g0101 others(7): Show a0001c0001t0001g0043 a0001c0001t0001g0060 a0001c0001t0001g0101 a0001c0001t0001g0112 a0001c0001t0001g0195 a0001c0001t0001g0209 a0001c0002t0001g0031 a0001c0002t0001g0226 a0001c0002t0001g0290 a0002c0003t0001g0143	10	306	0.0327	33	c.150 others(50): Show c.1508+361_1508+393dupCCTTCCTCCCCTTCCTCCTCCTCGCCCT CCTCT	VAV1	ENSG00000141968.8	transcript	ENST00000602142.6	protein_coding	15/26		INFO_REALIGN_3_PRIME	chr19	TogoVar
VAX2_chr2_70895576_70938446	70897466	A A	ACACCCAC others(26): Show ACACCCACACCCACCCCAACCACCCAGCTACCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0226	1	426	0.0024	33	c.-31 others(44): Show c.-3156_-3155insCACCCACACCCACCCCAACCACCCAGCTACCAC	VAX2	ENSG00000116035.4	transcript	ENST00000234392.3	protein_coding		3109		chr2	TogoVar
VCX2_chrX_8164944_8176267	8169170	T T	TCCTCCCT others(26): Show TCCTCCCTCCCTCCCCACACACCACCTCTTCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0005 a0002c0001t0002g0005	1	115	0.0087	33	c.86 others(42): Show c.861_*862insGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGG	VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding		773		chrX	TogoVar
VCX2_chrX_8164944_8176267	8169306	C C	CCCTCCCT others(26): Show CCCTCCCTCCCTCCCTCCCCACACACCACCTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0010 a0006c0013t0010	a0006c0013t0010g0027 a0006c0013t0010g0027	1	115	0.0087	33	c.72 others(42): Show c.725_*726insAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGG	VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding		637		chrX	TogoVar
VCX2_chrX_8164944_8176267	8169339	C C	CCCTCCCT others(26): Show CCCTCCCTCCCTCCCTCCCCACACACCACCTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0005 a0002c0001t0002g0005	1	115	0.0087	33	c.69 others(42): Show c.692_*693insAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGG	VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding		604		chrX	TogoVar
VCX2_chrX_8164944_8176267	8169467	T T	TCCCCCCT others(26): Show TCCCCCCTCCCTCCCCACACACCACCTCTTCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0009 a0004c0004t0003g0009	1	115	0.0087	33	c.56 others(42): Show c.564_*565insGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGGGG	VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding		476		chrX	TogoVar
VCX2_chrX_8164944_8176267	8169533	C C	CCCTCCCT others(26): Show CCCTCCCTCCCTCCCTCCCCACACACCACCTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp1 HG03453.hp1 HG02056.hp1 HG03453.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0004c0004 a0001c0002 a0004c0004	a0001c0002t0001 a0004c0004t0003 a0001c0002t0001 a0004c0004t0003	a0001c0002t0001g0039 a0004c0004t0003g0061 a0001c0002t0001g0039 a0004c0004t0003g0061	2	115	0.0174	33	c.49 others(42): Show c.498_*499insAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGG	VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding		410		chrX	TogoVar
VCX2_chrX_8164944_8176267	8169686	T T	TCCTCCCT others(26): Show TCCTCCCTCCCTCCTCACACACCACCGCTTCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	115	0.0087	33	c.34 others(42): Show c.345_*346insGAGGAAGCGGTGGTGTGTGAGGAGGGAGGGAGG	VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding		257		chrX	TogoVar
VCX2_chrX_8164944_8176267	8169826	C C	CCCTCCCT others(26): Show CCCTCCCTCCCTCCCTCCCCACACACCACCTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0061 a0004c0004t0003g0061	1	115	0.0087	33	c.20 others(42): Show c.205_*206insAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGG	VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding		117		chrX	TogoVar
VCX3A_chrX_6528618_6540118	6532847	T T	TCCTCCCT others(26): Show TCCTCCCTCCCTCCCCACACACCTCCTCTCCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0009 a0003c0004t0009	a0003c0004t0009g0028 a0003c0004t0009g0028	1	74	0.0135	33	c.89 others(42): Show c.897_*898insGAGGGAGAGGAGGTGTGTGGGGAGGGAGGGAGG	VCX3A	ENSG00000169059.13	transcript	ENST00000381089.7	protein_coding		770		chrX	TogoVar
VCX3A_chrX_6528618_6540118	6533128	C C	CCCTCCCT others(26): Show CCCTCCCTCCCTCCCTCCTCACACACCACCTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0025 a0025	a0025c0019 a0025c0019	a0025c0019t0002 a0025c0019t0002	a0025c0019t0002g0040 a0025c0019t0002g0040	1	74	0.0135	33	c.61 others(42): Show c.616_*617insAAGAGGTGGTGTGTGAGGAGGGAGGGAGGGAGG	VCX3A	ENSG00000169059.13	transcript	ENST00000381089.7	protein_coding		489		chrX	TogoVar
VCX3A_chrX_6528618_6540118	6533280	T T	TCCTTCCT others(26): Show TCCTTCCTCCCTCCCCACACACCTCCTCTTCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0009 a0003c0004t0009	a0003c0004t0009g0028 a0003c0004t0009g0028	1	74	0.0135	33	c.46 others(42): Show c.464_*465insGAGGAAGAGGAGGTGTGTGGGGAGGGAGGAAGG	VCX3A	ENSG00000169059.13	transcript	ENST00000381089.7	protein_coding		337		chrX	TogoVar
VCX3B_chrX_8459830_8471510	8466987	G G	GAGAGGTG others(26): Show GAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0003 a0002c0002t0002g0003	1	271	0.0037	33	c.60 others(42): Show c.604_*605insAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGA	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		478		chrX	TogoVar
VCX3B_chrX_8459830_8471510	8466987	G G	GAGGAAGA others(26): Show GAGGAAGAGGTGGTGTGTGAGGAGGGAGGGAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	271	0.0037	33	c.60 others(42): Show c.604_*605insAGGAAGAGGTGGTGTGTGAGGAGGGAGGGAGGA	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		478		chrX	TogoVar
VCX3B_chrX_8459830_8471510	8467005	A A	AGGGAGGG others(26): Show AGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0003 a0005c0005t0003	a0005c0005t0003g0004 a0005c0005t0003g0004	1	271	0.0037	33	c.62 others(42): Show c.622_*623insGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTG	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		496		chrX	TogoVar
VCX3B_chrX_8459830_8471510	8467180	T T	TGTGGGGA others(26): Show TGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02818.hp1 HG02572.hp1 HG02818.hp1	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0009 a0007c0006t0009	a0007c0006t0009g0005 a0007c0006t0009g0005	2	271	0.0074	33	c.79 others(42): Show c.797_*798insGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTG	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		671		chrX	TogoVar
VCX3B_chrX_8459830_8471510	8467180	T T	TGTGGGGA others(26): Show TGTGGGGAGGGAGGGAGGGAGGGGGGAAGAGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0046 a0046	a0046c0046 a0046c0046	a0046c0046t0003 a0046c0046t0003	a0046c0046t0003g0009 a0046c0046t0003g0009	1	271	0.0037	33	c.79 others(42): Show c.797_*798insGTGGGGAGGGAGGGAGGGAGGGGGGAAGAGGAG	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		671		chrX	TogoVar
VCX3B_chrX_8459830_8471510	8467329	A A	AGGTGTGT others(26): Show AGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0006 a0002c0002t0002g0006	1	271	0.0037	33	c.94 others(42): Show c.946_*947insGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGT	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		820		chrX	TogoVar

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Search Results (Total: 4928 hits)