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
UNC13C_chr15_53973441_54633605	54132074	C C	CTTTTTTT others(22): Show CTTTTTTTTTTCTTTTTCTTTTTCTTTTTT	intron_variant intron_variant	MODIFIER	HG02602.hp2 NA18979.hp1 HG02602.hp2 NA18979.hp1	a0002 a0004 a0002 a0004	a0002c0019 a0004c0026 a0002c0019 a0004c0026	a0002c0019t0031 a0004c0026t0001 a0002c0019t0031 a0004c0026t0001	a0002c0019t0031g0071 a0004c0026t0001g0022 a0002c0019t0031g0071 a0004c0026t0001g0022	2	158	0.0127	29	c.298 others(50): Show c.2984-10934_2984-10933insCTTTTTCTTTTTCTTTTTTTTTTT TTTTT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	2/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54132074	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTCTTTTTCTTTTTT	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0023 a0001c0003t0010g0023	1	158	0.0063	29	c.298 others(50): Show c.2984-10932_2984-10931insTTTTCTTTTTCTTTTTTTTTTTTT TTTTT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	2/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54250752	T T	TCTTTCTT others(22): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02129.hp1 NA18991.hp2 HG00735.hp2 HG02129.hp1 NA18991.hp2	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0013 a0001c0006t0027 a0001c0002t0013 a0001c0006t0027	a0001c0002t0013g0014 a0001c0006t0027g0050 a0001c0006t0027g0052 a0001c0002t0013g0014 a0001c0006t0027g0050 a0001c0006t0027g0052	3	158	0.0190	29	c.344 others(46): Show c.3448+308_3448+309insCTTTCTTTCTTTCTTTCTTTCTTTCTTT C	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	8/32			chr15	TogoVar
UNC13C_chr15_53973441_54633605	54552905	A A	ATATATTA others(22): Show ATATATTATATATTGTATTCTATATTACAT	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG02615.hp1 HG02809.hp2 others(3): Show HG01169.hp2 HG02615.hp1 HG02809.hp2 HG02818.hp1 HG03225.hp1 HG03471.hp2	a0001 a0003 a0011 a0001 a0003 a0011	a0001c0001 a0003c0008 a0011c0039 a0001c0001 a0003c0008 a0011c0039	a0001c0001t0015 a0001c0001t0056 a0001c0001t0057 others(3): Show a0001c0001t0015 a0001c0001t0056 a0001c0001t0057 a0001c0001t0059 a0003c0008t0015 a0011c0039t0001	a0001c0001t0015g0070 a0001c0001t0056g0015 a0001c0001t0057g0145 others(3): Show a0001c0001t0015g0070 a0001c0001t0056g0015 a0001c0001t0057g0145 a0001c0001t0059g0147 a0003c0008t0015g0105 a0011c0039t0001g0037	6	158	0.0380	29	c.587 others(48): Show c.5878-2522_5878-2521insTATATATTGTATTCTATATTACATTA TAT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	28/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC45B_chr17_35142817_35194343	35166086	T T	TAAAAAAA others(22): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG04184.hp2 HG03654.hp2 HG04184.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0005 a0002c0003t0005 a0001c0001t0005 a0002c0003t0005	a0001c0001t0005g0276 a0002c0003t0005g0061 a0001c0001t0005g0276 a0002c0003t0005g0061	2	434	0.0046	29	c.115 others(48): Show c.1151+1945_1151+1946insAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	UNC45B	ENSG00000141161.12	transcript	ENST00000394570.7	protein_coding	9/19		INFO_REALIGN_3_PRIME	chr17	TogoVar
UNC5C_chr4_95157504_95553973	95196727	A A	AATATATA others(22): Show AATATATATTATATTTATGTAATATATAAT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0179 a0001c0006t0001g0179	1	204	0.0049	29	c.213 others(48): Show c.2136+5975_2136+6003dupATTATATATTACATAAATATAATATA TAT	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	12/15			chr4	TogoVar
UNC5C_chr4_95157504_95553973	95354479	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0059 a0001c0003t0001g0059	1	204	0.0049	29	c.125 others(48): Show c.125-18849_125-18848insATATATATATATATATATATATATAT ATA	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	1/15			chr4	TogoVar
UNC5D_chr8_35230475_35801540	35317852	T T	TAACTTAG others(22): Show TAACTTAGTTGCCTTCTACTTAGACAAGAC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01123.hp2 HG01928.hp1 others(9): Show HG00438.hp1 HG01123.hp2 HG01928.hp1 HG02129.hp1 HG02615.hp2 HG02622.hp2 HG02896.hp1 HG03239.hp2 HG03688.hp1 HG03927.hp1 NA18983.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0002t0008 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0008 a0001c0002t0015 a0001c0003t0005 a0001c0003t0012 a0001c0006t0004	a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0042 others(9): Show a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0002g0044 a0001c0002t0008g0045 a0001c0002t0015g0043 a0001c0003t0005g0041 a0001c0003t0012g0058 a0001c0006t0004g0031	12	64	0.1875	29	c.103 others(48): Show c.103+81975_103+82003dupGCCTTCTACTTAGACAAGACAACTTA GTT	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
UNC5D_chr8_35230475_35801540	35728091	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0033 a0001c0003t0005g0033	1	64	0.0156	29	c.168 others(48): Show c.1681+1562_1681+1563insTATATATATATATATATATATATATA TAT	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	10/16			chr8	TogoVar
UNC5D_chr8_35230475_35801540	35728095	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0048 a0001c0003t0005g0048	1	64	0.0156	29	c.168 others(48): Show c.1681+1566_1681+1567insTATATATATATATATATATATATATA TAT	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	10/16			chr8	TogoVar
UNC79_chr14_93425939_93712876	93695890	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0004 a0004	a0004c0037 a0004c0037	a0004c0037t0001 a0004c0037t0001	a0004c0037t0001g0094 a0004c0037t0001g0094	1	193	0.0052	29	c.788 others(48): Show c.7881+1498_7881+1499insAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	UNC79	ENSG00000133958.14	transcript	ENST00000695012.1	protein_coding	50/51		INFO_REALIGN_3_PRIME	chr14	TogoVar
UNK_chr17_75779806_75830799	75782239	A A	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	358	0.0028	29	c.-26 others(40): Show c.-2642_-2641insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	UNK	ENSG00000132478.10	transcript	ENST00000589666.6	protein_coding		2566		chr17	TogoVar
UPK1A_chr19_35661517_35683481	35682244	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	420	0.0024	29	c.42 others(40): Show c.4225_*4226insTATATATATATATATATATATATATATAT	UPK1A	ENSG00000105668.8	transcript	ENST00000222275.3	protein_coding		3764		chr19	TogoVar
UPK3BL2_chr7_102532919_102548696	102547832	G G	GGAAAGAA others(22): Show GGAAAGAAAGGAAAGAAAGAAAGAAAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0034 a0003c0004t0004g0034	1	182	0.0055	29	c.-41 others(40): Show c.-4197_-4196insTTTCTTTCTTTCTTTCTTTCCTTTCTTTC	UPK3BL2	ENSG00000284981.2	transcript	ENST00000644544.2	protein_coding		4137		chr7	TogoVar
UQCC1_chr20_35297578_35416973	35338890	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0058 a0002c0002t0003g0058	1	256	0.0039	29	c.573 others(46): Show c.573+8273_573+8274insATATATATATATATATATATATATATAT A	UQCC1	ENSG00000101019.22	transcript	ENST00000374385.10	protein_coding	7/9			chr20	TogoVar
UQCC1_chr20_35297578_35416973	35410704	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03942.hp2 HG02486.hp2 HG03942.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0204 a0002c0002t0001g0092 a0001c0001t0001g0204 a0002c0002t0001g0092	2	256	0.0078	29	c.24+ others(44): Show c.24+1235_24+1236insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	UQCC1	ENSG00000101019.22	transcript	ENST00000374385.10	protein_coding	1/9			chr20	TogoVar
UQCC1_chr20_35297578_35416973	35412617	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 NA19004.hp1 HG00558.hp1 NA19004.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0053 a0002c0002t0001g0054	2	256	0.0078	29	c.-65 others(38): Show c.-655_-654insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	UQCC1	ENSG00000101019.22	transcript	ENST00000374385.10	protein_coding		645		chr20	TogoVar
URGCP_chr7_43870913_43911596	43883321	A A	AATATATA others(22): Show AATATATATATATATTACATATATATATAT	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0190 a0001c0002t0002g0190	1	404	0.0025	29	c.113 others(46): Show c.113-1365_113-1364insATATATATATATGTAATATATATATATA T	URGCP	ENSG00000106608.17	transcript	ENST00000453200.6	protein_coding	3/5			chr7	TogoVar
USH2A_chr1_215617891_216428448	215836508	A A	ATATATAT others(22): Show ATATATATATATAATATATATTATATATAT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0036 a0036	a0036c0044 a0036c0044	a0036c0044t0002 a0036c0044t0002	a0036c0044t0002g0073 a0036c0044t0002g0073	1	74	0.0135	29	c.937 others(48): Show c.9371+1482_9371+1483insATATATATAATATATATTATATATAT ATA	USH2A	ENSG00000042781.14	transcript	ENST00000307340.8	protein_coding	47/71			chr1	TogoVar
USP10_chr16_84695000_84784922	84720576	A A	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02129.hp2 NA18989.hp2 NA20805.hp2 HG02129.hp2 NA18989.hp2 NA20805.hp2	a0002 a0002	a0002c0001 a0002c0004 a0002c0001 a0002c0004	a0002c0001t0001 a0002c0004t0001 a0002c0001t0001 a0002c0004t0001	a0002c0001t0001g0086 a0002c0001t0001g0424 a0002c0004t0001g0080 a0002c0001t0001g0086 a0002c0001t0001g0424 a0002c0004t0001g0080	3	430	0.0070	29	c.22- others(46): Show c.22-12836_22-12835insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	USP10	ENSG00000103194.16	transcript	ENST00000219473.12	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
USP14_chr18_153557_219629	171023	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0176 a0001c0001t0003g0176	1	380	0.0026	29	c.195 others(46): Show c.195+4204_195+4205insTATATATATATATATATATATATATATA T	USP14	ENSG00000101557.15	transcript	ENST00000261601.8	protein_coding	3/15			chr18	TogoVar
USP14_chr18_153557_219629	171025	A A	AAATATAT others(22): Show AAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0199 a0001c0001t0029g0199	1	380	0.0026	29	c.195 others(46): Show c.195+4207_195+4208insATATATATATATATATATATATATATAT A	USP14	ENSG00000101557.15	transcript	ENST00000261601.8	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr18	TogoVar
USP14_chr18_153557_219629	171025	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG04184.hp2 HG04228.hp1 others(1): Show HG02145.hp2 HG04184.hp2 HG04228.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0057 a0001c0001t0001 a0001c0001t0003 a0001c0001t0057	a0001c0001t0001g0104 a0001c0001t0003g0166 a0001c0001t0003g0174 others(1): Show a0001c0001t0001g0104 a0001c0001t0003g0166 a0001c0001t0003g0174 a0001c0001t0057g0200	4	380	0.0105	29	c.195 others(46): Show c.195+4206_195+4207insTATATATATATATATATATATATATATA T	USP14	ENSG00000101557.15	transcript	ENST00000261601.8	protein_coding	3/15			chr18	TogoVar
USP15_chr12_62255404_62421389	62257162	A A	ATGTGTGT others(22): Show ATGTGTGTGTATATGTATATATACACAATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG01255.hp1 HG01934.hp2 others(18): Show HG01074.hp2 HG01255.hp1 HG01934.hp2 HG02451.hp2 HG02630.hp1 HG02717.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp2 HG03688.hp2 NA18940.hp2 NA18944.hp1 NA18968.hp2 NA18972.hp1 NA18990.hp2 NA19002.hp2 NA19063.hp2 NA19074.hp2 NA20752.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0003 a0001c0001t0008 a0001c0001t0010 others(9): Show a0001c0001t0003 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0020 a0001c0001t0031 a0001c0002t0001 a0001c0002t0005 a0001c0002t0021 a0001c0005t0024 a0001c0005t0025 a0001c0005t0062	a0001c0001t0003g0003 a0001c0001t0003g0013 a0001c0001t0003g0225 others(17): Show a0001c0001t0003g0003 a0001c0001t0003g0013 a0001c0001t0003g0225 a0001c0001t0003g0233 a0001c0001t0008g0298 a0001c0001t0010g0138 a0001c0001t0011g0015 a0001c0001t0011g0237 a0001c0001t0011g0253 a0001c0001t0011g0254 a0001c0001t0020g0141 a0001c0001t0031g0139 a0001c0002t0001g0075 a0001c0002t0005g0309 a0001c0002t0005g0311 a0001c0002t0005g0313 a0001c0002t0021g0092 a0001c0005t0024g0209 a0001c0005t0025g0210 a0001c0005t0062g0212	21	348	0.0603	29	c.-32 others(40): Show c.-3253_-3252insTGTGTGTGTATATGTATATATACACAATG	USP15	ENSG00000135655.16	transcript	ENST00000280377.10	protein_coding		3241		chr12	TogoVar
USP20_chr9_129830458_129886828	129846247	A A	ATATATAT others(22): Show ATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0006 a0006	a0006c0032 a0006c0032	a0006c0032t0002 a0006c0032t0002	a0006c0032t0002g0251 a0006c0032t0002g0251	1	352	0.0028	29	c.-12 others(48): Show c.-128-3565_-128-3564insATATATATATATATATATATTTTTTT TTT	USP20	ENSG00000136878.14	transcript	ENST00000372429.8	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
USP26_chrX_133018168_133102109	133057866	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0080 a0001c0002t0002g0080	1	252	0.0040	29	c.-77 others(48): Show c.-77+25840_-77+25841insAAATATATATATATATATATATATAT ATA	USP26	ENSG00000134588.13	transcript	ENST00000511190.6	protein_coding	5/5			chrX	TogoVar
USP26_chrX_133018168_133102109	133057866	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01169.hp2 HG02683.hp2 others(1): Show HG01081.hp2 HG01169.hp2 HG02683.hp2 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0025 a0001c0002t0002 a0001c0002t0025	a0001c0002t0002g0036 a0001c0002t0002g0040 a0001c0002t0002g0076 others(1): Show a0001c0002t0002g0036 a0001c0002t0002g0040 a0001c0002t0002g0076 a0001c0002t0025g0045	4	252	0.0159	29	c.-77 others(48): Show c.-77+25840_-77+25841insAAAAATATATATATATATATATATAT ATA	USP26	ENSG00000134588.13	transcript	ENST00000511190.6	protein_coding	5/5			chrX	TogoVar
USP26_chrX_133018168_133102109	133057866	A A	ATATATAT others(22): Show ATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02071.hp1 NA18995.hp1 HG02071.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0009 a0001c0001t0001 a0001c0002t0009	a0001c0001t0001g0209 a0001c0002t0009g0052 a0001c0001t0001g0209 a0001c0002t0009g0052	2	252	0.0079	29	c.-77 others(48): Show c.-77+25840_-77+25841insAAAAAAATATATATATATATATATAT ATA	USP26	ENSG00000134588.13	transcript	ENST00000511190.6	protein_coding	5/5			chrX	TogoVar
USP30_chr12_109047576_109093023	109055400	A A	ACATATAT others(22): Show ACATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01516.hp1 HG01517.hp2 others(4): Show HG00099.hp2 HG01516.hp1 HG01517.hp2 HG02145.hp2 HG02451.hp1 HG04228.hp1 NA19070.hp2	a0002 a0004 a0002 a0004	a0002c0003 a0004c0006 a0002c0003 a0004c0006	a0002c0003t0002 a0004c0006t0002 a0002c0003t0002 a0004c0006t0002	a0002c0003t0002g0199 a0002c0003t0002g0200 a0002c0003t0002g0202 others(4): Show a0002c0003t0002g0199 a0002c0003t0002g0200 a0002c0003t0002g0202 a0002c0003t0002g0203 a0002c0003t0002g0204 a0002c0003t0002g0205 a0004c0006t0002g0201	7	396	0.0177	29	c.84- others(44): Show c.84-1282_84-1281insCATATATATATATATATATATATTTTTTT	USP30	ENSG00000135093.13	transcript	ENST00000257548.10	protein_coding	1/12			chr12	TogoVar
USP30_chr12_109047576_109093023	109055400	A A	ACATATAT others(22): Show ACATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18972.hp2 NA18984.hp1 others(2): Show NA18940.hp2 NA18972.hp2 NA18984.hp1 NA18986.hp1 NA19086.hp2	a0002 a0004 a0002 a0004	a0002c0003 a0004c0006 a0002c0003 a0004c0006	a0002c0003t0002 a0004c0006t0002 a0002c0003t0002 a0004c0006t0002	a0002c0003t0002g0212 a0002c0003t0002g0213 a0002c0003t0002g0214 others(2): Show a0002c0003t0002g0212 a0002c0003t0002g0213 a0002c0003t0002g0214 a0002c0003t0002g0215 a0004c0006t0002g0211	5	396	0.0126	29	c.84- others(44): Show c.84-1282_84-1281insCATATATATATATATATATATTTTTTTTT	USP30	ENSG00000135093.13	transcript	ENST00000257548.10	protein_coding	1/12			chr12	TogoVar
USP30_chr12_109047576_109093023	109055400	A A	ACATATAT others(22): Show ACATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18998.hp2 NA18971.hp2 NA18998.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0218 a0002c0003t0002g0219 a0002c0003t0002g0218 a0002c0003t0002g0219	2	396	0.0051	29	c.84- others(44): Show c.84-1282_84-1281insCATATATATATATATATATTTTTTTTTTT	USP30	ENSG00000135093.13	transcript	ENST00000257548.10	protein_coding	1/12			chr12	TogoVar
USP36_chr17_78790652_78845814	78798147	T T	TACACACA others(22): Show TACACACACCCCCTTATACACACGCATCCC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0006 a0008c0009t0006	a0008c0009t0006g0269 a0008c0009t0006g0269	1	386	0.0026	29	c.20 others(44): Show c.20+224_*20+252dupGGGATGCGTGTGTATAAGGGGGTGTGTGT	USP36	ENSG00000055483.20	transcript	ENST00000449938.7	protein_coding	20/20			chr17	TogoVar
USP43_chr17_9640517_9734687	9681152	A A	ATATATTA others(22): Show ATATATTATATAATAGTATATATTATATAG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0277 a0001c0002t0001g0277	1	330	0.0030	29	c.110 others(46): Show c.1105+791_1105+792insTATATAATAGTATATATTATATAGTATA T	USP43	ENSG00000154914.17	transcript	ENST00000285199.12	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
USP48_chr1_21673298_21788149	21694601	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAAAAAAAAAAAACAAAC	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0084 a0001c0001t0003g0084	1	364	0.0028	29	c.288 others(46): Show c.2883+464_2883+465insGTTTGTTTTTTTTTTTTTTTTTTTTTTT T	USP48	ENSG00000090686.16	transcript	ENST00000308271.14	protein_coding	23/26			chr1	TogoVar
USP49_chr6_41784896_41900375	41802428	T T	TTTTATTT others(22): Show TTTTATTTTATTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0196 a0001c0003t0002g0196	1	384	0.0026	29	c.156 others(48): Show c.1561+1377_1561+1378insTAAAATAAAATAAAATAAAATAAAAT AAA	USP49	ENSG00000164663.15	transcript	ENST00000682992.1	protein_coding	5/7			chr6	TogoVar
USP7_chr16_8887097_8968906	8897726	A A	AAATATAT others(22): Show AAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0071 a0001c0001t0004g0071	1	338	0.0030	29	c.271 others(46): Show c.2719-628_2719-627insATATATATATATATATATATATATATAT T	USP7	ENSG00000187555.17	transcript	ENST00000344836.9	protein_coding	25/30			chr16	TogoVar
USP9X_chrX_41080445_41241579	41161635	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 NA19064.hp1 HG00438.hp2 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0112 a0001c0001t0001g0114	2	293	0.0068	29	c.189 others(48): Show c.1898-1132_1898-1131insTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	USP9X	ENSG00000124486.15	transcript	ENST00000378308.7	protein_coding	14/44		INFO_REALIGN_3_PRIME	chrX	TogoVar
UTP20_chr12_101275105_101391618	101310577	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0165 a0001c0001t0002g0165	1	356	0.0028	29	c.223 others(46): Show c.2231+759_2231+760insAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	UTP20	ENSG00000120800.5	transcript	ENST00000261637.5	protein_coding	19/61		INFO_REALIGN_3_PRIME	chr12	TogoVar
UTP20_chr12_101275105_101391618	101310595	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG01255.hp1 others(3): Show HG00140.hp1 HG00140.hp2 HG01255.hp1 HG03239.hp2 HG03710.hp1 NA21309.hp2	a0002 a0019 a0002 a0019	a0002c0005 a0019c0030 a0002c0005 a0019c0030	a0002c0005t0005 a0019c0030t0005 a0002c0005t0005 a0019c0030t0005	a0002c0005t0005g0112 a0002c0005t0005g0114 a0002c0005t0005g0123 others(3): Show a0002c0005t0005g0112 a0002c0005t0005g0114 a0002c0005t0005g0123 a0002c0005t0005g0129 a0002c0005t0005g0130 a0019c0030t0005g0124	6	356	0.0169	29	c.223 others(46): Show c.2231+759_2231+760insAAAAAAAAAAAAAAAAAAAAAAAAAGAA A	UTP20	ENSG00000120800.5	transcript	ENST00000261637.5	protein_coding	19/61		INFO_REALIGN_3_PRIME	chr12	TogoVar
UTRN_chr6_144280335_144858034	144690074	G G	GTTTTTTT others(22): Show GTTTTTTTGTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0029 a0001c0003t0006g0029	1	128	0.0078	29	c.765 others(50): Show c.7653-10006_7653-10005insGTTTTTTTTTTTTTTTTTTTTTTT TTTTT	UTRN	ENSG00000152818.20	transcript	ENST00000367545.8	protein_coding	52/74		INFO_REALIGN_3_PRIME	chr6	TogoVar
UTS2_chr1_7842612_7858065	7857100	A A	AAAAGGAA others(22): Show AAAAGGAATGAAGGAAGGAAGGAAGGAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0107 a0004c0005t0001g0107	1	468	0.0021	29	c.-40 others(40): Show c.-4098_-4097insCCTTCCTTCCTTCCTTCCTTCATTCCTTT	UTS2	ENSG00000049247.14	transcript	ENST00000361696.10	protein_coding		4036		chr1	TogoVar
UVRAG_chr11_75810210_76149232	75920008	G G	GTTTTTTT others(22): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0108 a0002c0002t0001g0108	1	146	0.0069	29	c.593 others(46): Show c.593+7976_593+8004dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	UVRAG	ENSG00000198382.9	transcript	ENST00000356136.8	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr11	TogoVar
UVRAG_chr11_75810210_76149232	76003257	A A	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0134 a0001c0001t0028g0134	1	146	0.0069	29	c.827 others(44): Show c.827-745_827-717dupTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	UVRAG	ENSG00000198382.9	transcript	ENST00000356136.8	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr11	TogoVar
VANGL2_chr1_160395564_160433670	160395682	T T	TTGGGGCC others(22): Show TTGGGGCCTGAAGTTTCTTATGGGAATGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0077 a0001c0001t0003g0077	1	390	0.0026	29	c.-53 others(40): Show c.-5378_-5377insTGGGGCCTGAAGTTTCTTATGGGAATGAG	VANGL2	ENSG00000162738.7	transcript	ENST00000368061.3	protein_coding		4881		chr1	TogoVar
VASP_chr19_45502479_45531983	45513468	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0104 a0001c0002t0003g0104	1	406	0.0025	29	c.6-4 others(42): Show c.6-4174_6-4173insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	VASP	ENSG00000125753.15	transcript	ENST00000245932.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
VAT1L_chr16_77783564_77985107	77793261	G G	GCCACAGG others(22): Show GCCACAGGCATGTGGCACAGGCATGTGCCA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0301 a0001c0015t0001g0301	1	342	0.0029	29	c.233 others(46): Show c.233+4350_233+4351insAGGCATGTGGCACAGGCATGTGCCACCA C	VAT1L	ENSG00000171724.3	transcript	ENST00000302536.3	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr16	TogoVar
VAT1L_chr16_77783564_77985107	77805865	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0130 a0001c0001t0003g0130	1	342	0.0029	29	c.234 others(48): Show c.234-11041_234-11040insTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	VAT1L	ENSG00000171724.3	transcript	ENST00000302536.3	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr16	TogoVar
VAT1L_chr16_77783564_77985107	77950409	A A	ACACACAC others(22): Show ACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0029 a0001c0001t0009g0029	1	342	0.0029	29	c.107 others(50): Show c.1078-21441_1078-21440insCACACACACACACACACACACACA CACAC	VAT1L	ENSG00000171724.3	transcript	ENST00000302536.3	protein_coding	7/8			chr16	TogoVar
VAV1_chr19_6767708_6862361	6789593	C C	CTTCCTTC others(22): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02559.hp1 HG02615.hp2 others(5): Show HG02280.hp2 HG02559.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02717.hp2 HG02818.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0020 a0001c0001t0001g0023 others(5): Show a0001c0001t0001g0001 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0082 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0109 a0001c0001t0002g0215	8	306	0.0261	29	c.204 others(48): Show c.204+16583_204+16584insTCCTTCCTTCCTTCCTTCCTTCCTTC CTT	VAV1	ENSG00000141968.8	transcript	ENST00000602142.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr19	TogoVar
VAV3_chr1_107566161_107970180	107723407	C C	CTGCAGCC others(22): Show CTGCAGCCACCAGCTCAGCCCTCAAGTAAG	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0060 a0002c0003t0004g0060	1	210	0.0048	29	c.150 others(50): Show c.1503-18375_1503-18347dupCTTACTTGAGGGCTGAGCTGGTGG CTGCA	VAV3	ENSG00000134215.16	transcript	ENST00000370056.9	protein_coding	15/26			chr1	TogoVar

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Search Results (Total: 6085 hits)