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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

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
BRINP3_chr1_190092658_190482864	190482388	C C	CATATATA others(30): Show CATATATATACGTGTATATATGTGTATATATATATGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03490.hp2 HG03492.hp1 NA21309.hp1 HG03490.hp2 HG03492.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0184 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0184	3	240	0.0125	37	c.-49 others(48): Show c.-4992_-4991insTGCATATATATATACACATATATACACGTATATA TAT	BRINP3	ENSG00000162670.11	transcript	ENST00000367462.5	protein_coding		4525		chr1	TogoVar
BRSK1_chr19_55278997_55317562	55285015	A A	AGGGTCTG others(30): Show AGGGTCTGAGGGAGGAGGGGCTGGGGGTCTGGACTTCT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02683.hp2 HG03098.hp1 others(10): Show HG02258.hp2 HG02683.hp2 HG03098.hp1 HG03098.hp2 HG03239.hp2 HG03486.hp2 HG03516.hp2 HG03669.hp1 HG03704.hp2 HG03834.hp2 HG04184.hp2 NA18943.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0030 a0001c0002t0001 a0001c0002t0002 a0001c0004t0003 a0001c0018t0001	a0001c0001t0001g0028 a0001c0001t0001g0277 a0001c0001t0001g0282 others(10): Show a0001c0001t0001g0028 a0001c0001t0001g0277 a0001c0001t0001g0282 a0001c0001t0002g0028 a0001c0001t0002g0275 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0006g0280 a0001c0001t0030g0281 a0001c0002t0001g0278 a0001c0002t0002g0283 a0001c0004t0003g0276 a0001c0018t0001g0279	13	338	0.0385	37	c.136 others(52): Show c.136+457_136+493dupCTGGGGGTCTGGACTTCTGGGTCTGAGGGA GGAGGGG	BRSK1	ENSG00000160469.17	transcript	ENST00000309383.6	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
BRSK1_chr19_55278997_55317562	55286026	A A	AAGGGAGG others(30): Show AAGGGAGGAGGGGCTGGGGTCTGGAAGTGCTGTGTCTG	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0019	a0001c0002t0019g0265 a0001c0002t0019g0265	1	338	0.0030	37	c.137 others(52): Show c.137-963_137-962insTCTGGAAGTGCTGTGTCTGAGGGAGGAGGG GCTGGGG	BRSK1	ENSG00000160469.17	transcript	ENST00000309383.6	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
BRWD3_chrX_80664503_80814877	80726273	T T	TTATATGT others(30): Show TTATATGTCTGTATAACATATAACACGTTTACATGTTA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0072 a0001c0001t0072	a0001c0001t0072g0055 a0001c0001t0072g0055	1	265	0.0038	37	c.138 others(56): Show c.1387-1207_1387-1206insTAACATGTAAACGTGTTATATGTTAT ACAGACATATA	BRWD3	ENSG00000165288.11	transcript	ENST00000373275.5	protein_coding	14/40			chrX	TogoVar
BRWD3_chrX_80664503_80814877	80754987	A A	AACAGAGC others(30): Show AACAGAGCGAAACTCCGTCTCAAATTAAAAAAAAAAGG	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0119 a0001c0001t0119	a0001c0001t0119g0179 a0001c0001t0119g0179	1	265	0.0038	37	c.431 others(54): Show c.431-9295_431-9259dupCCTTTTTTTTTTAATTTGAGACGGAGTT TCGCTCTGT	BRWD3	ENSG00000165288.11	transcript	ENST00000373275.5	protein_coding	6/40			chrX	TogoVar
BSG_chr19_567596_588493	570588	T T	TGGAGGGG others(30): Show TGGAGGGGCGGGTGGGGGAGGGGCGGAGGGGCGGGTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0173 a0001c0002t0001g0173	1	306	0.0033	37	c.-20 others(48): Show c.-2047_-2046insGGAGGGGCGGGTGGGGGAGGGGCGGAGGGGCGGG TTG	BSG	ENSG00000172270.22	transcript	ENST00000333511.9	protein_coding		2007		chr19	TogoVar
BSND_chr1_54993933_55022172	54996837	C C	CTTTTTTT others(30): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG03579.hp2 HG02622.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0223 a0001c0001t0252 a0001c0001t0223 a0001c0001t0252	a0001c0001t0223g0068 a0001c0001t0252g0067 a0001c0001t0223g0068 a0001c0001t0252g0067	2	448	0.0045	37	c.-23 others(48): Show c.-2350_-2349insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	BSND	ENSG00000162399.9	transcript	ENST00000651561.1	protein_coding		2095		chr1	TogoVar
BTAF1_chr10_91918770_92036437	92012243	C C	CCCTCTAT others(30): Show CCCTCTATCTCCTCCCCTCTCCCCTCCCCCCCTCCCCT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0325 a0001c0001t0002g0325	1	330	0.0030	37	c.431 others(54): Show c.4311+830_4311+831insTCTATCTCCTCCCCTCTCCCCTCCCCCC CTCCCCTCC	BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding	30/37		INFO_REALIGN_3_PRIME	chr10	TogoVar
C10orf90_chr10_126419997_126675693	126565436	A A	ATATTATA others(30): Show ATATTATATATAATATATATTATATATATTATATATAT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0209 a0001c0001t0002g0209	1	218	0.0046	37	c.314 others(56): Show c.314-51498_314-51497insATATATATAATATATATAATATATAT TATATATAATA	C10orf90	ENSG00000154493.20	transcript	ENST00000488181.3	protein_coding	2/9			chr10	TogoVar
C12orf40_chr12_39621183_39726914	39653585	C C	CTTCTTTT others(30): Show CTTCTTTTTCTTCTTCTTCTTCTTTCTTCTTCTTCTTT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02027.hp2 HG02135.hp2 others(4): Show HG00621.hp1 HG02027.hp2 HG02135.hp2 HG03225.hp2 HG03486.hp1 HG06807.hp1 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0012 a0001c0001t0001g0049 a0001c0001t0001g0050 others(3): Show a0001c0001t0001g0012 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0003g0080	7	360	0.0194	37	c.686 others(54): Show c.686+3236_686+3237insTTTCTTCTTCTTCTTCTTTCTTCTTCTT CTTTTTCTT	C12orf40	ENSG00000180116.15	transcript	ENST00000324616.9	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
C12orf56_chr12_64259762_64395758	64308972	A A	AAAGAAAG others(30): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAG	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0183 a0002c0002t0001g0183	1	312	0.0032	37	c.968 others(54): Show c.968+3706_968+3707insCTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTT	C12orf56	ENSG00000185306.13	transcript	ENST00000543942.7	protein_coding	5/12			chr12	TogoVar
C17orf78_chr17_37370985_37397708	37390247	T T	TATAATTA others(30): Show TATAATTATATATAATATATTATATATAATTATATATA	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18952.hp2 NA18941.hp2 NA18952.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0025 a0002c0002t0001g0025	2	441	0.0045	37	c.750 others(52): Show c.750+888_750+889insATTATATATAATATATTATATATAATTATA TATAATA	C17orf78	ENSG00000278505.5	transcript	ENST00000615133.2	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
C17orf78_chr17_37370985_37397708	37390304	T T	TTTTATAT others(30): Show TTTTATATATATATATATTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00639.hp1 HG00639.hp2 others(12): Show HG00140.hp1 HG00639.hp1 HG00639.hp2 HG01099.hp1 HG01123.hp1 HG01243.hp1 HG01928.hp1 HG01934.hp2 HG01943.hp2 HG01978.hp1 HG01978.hp2 HG02135.hp2 HG03491.hp1 HG03492.hp2 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0019 others(7): Show a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0047 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0138 a0001c0001t0001g0317 a0001c0001t0001g0376	15	441	0.0340	37	c.750 others(52): Show c.750+943_750+944insTTATATATATATATATTATATATATATATA TATATAT	C17orf78	ENSG00000278505.5	transcript	ENST00000615133.2	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
C17orf78_chr17_37370985_37397708	37390304	T T	TTTTATAT others(30): Show TTTTATATATATATATTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0286 a0001c0001t0001g0286	1	441	0.0023	37	c.750 others(52): Show c.750+943_750+944insTTATATATATATATTATATATATATATATA TATATAT	C17orf78	ENSG00000278505.5	transcript	ENST00000615133.2	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
C1QTNF9_chr13_24304580_24327531	24309306	T T	TATATATA others(30): Show TATATATATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	466	0.0022	37	c.-33 others(46): Show c.-333_-332insATATATATATATATATATATATATATATATATATAT A	C1QTNF9	ENSG00000240654.6	transcript	ENST00000332018.5	protein_coding		273		chr13	TogoVar
C1orf100_chr1_244347635_244394663	244373332	T T	TTTATATA others(30): Show TTTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0425 a0001c0001t0002g0425	1	452	0.0022	37	c.57- others(52): Show c.57-2039_57-2038insTATATATATATATATATATATATATATATA TATATAT	C1orf100	ENSG00000173728.11	transcript	ENST00000308105.5	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
C1orf21_chr1_184382029_184634019	184410626	T T	TATATATA others(30): Show TATATATAATATATATATATATTATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0154 a0001c0001t0015g0154	1	232	0.0043	37	c.-12 others(58): Show c.-125+23265_-125+23266insATATATATATATATTATATATATA TATATAATATATA	C1orf21	ENSG00000116667.15	transcript	ENST00000235307.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
C21orf58_chr21_46296130_46328870	46298434	C C	CTTTTTTT others(30): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp1 HG03927.hp2 NA19090.hp2 HG01175.hp1 HG03927.hp2 NA19090.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0101 a0002c0002t0001g0132 a0002c0002t0001g0219 a0002c0002t0001g0101 a0002c0002t0001g0132 a0002c0002t0001g0219	3	378	0.0079	37	c.35 others(48): Show c.3564_*3565insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	C21orf58	ENSG00000160298.18	transcript	ENST00000291691.12	protein_coding		2695		chr21	TogoVar
C21orf62_chr21_32785673_32818703	32803508	G G	GCAGTGTG others(30): Show GCAGTGTGAGGGCTTTAGCTGTAGGACCTTGAAATGCT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0242 a0001c0001t0011g0242	1	303	0.0033	37	c.-65 others(54): Show c.-65+4097_-65+4133dupAGCATTTCAAGGTCCTACAGCTAAAGCC CTCACACTG	C21orf62	ENSG00000205929.11	transcript	ENST00000479548.2	protein_coding	3/3			chr21	TogoVar
C22orf42_chr22_32144006_32164303	32146043	G G	GAATATAT others(30): Show GAATATATATTAGATAATATATTAGATAATATATAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02622.hp1 HG02630.hp1 others(3): Show HG02145.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02809.hp2 HG03209.hp1	a0002 a0002	a0002c0002 a0002c0007 a0002c0002 a0002c0007	a0002c0002t0002 a0002c0007t0002 a0002c0002t0002 a0002c0007t0002	a0002c0002t0002g0030 a0002c0002t0002g0091 a0002c0007t0002g0012 others(2): Show a0002c0002t0002g0030 a0002c0002t0002g0091 a0002c0007t0002g0012 a0002c0007t0002g0049 a0002c0007t0002g0050	6	398	0.0151	37	c.34 others(48): Show c.3496_*3497insTCTTATATATTATCTAATATATTATCTAATATAT ATT	C22orf42	ENSG00000205856.4	transcript	ENST00000382097.4	protein_coding		2962		chr22	TogoVar
C22orf42_chr22_32144006_32164303	32146150	T T	TTATTATA others(30): Show TTATTATATAATATAACATATTATATATTAATATATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG02155.hp1 HG00438.hp2 HG02155.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0002	a0002c0006t0002g0032 a0002c0006t0002g0032	2	398	0.0050	37	c.33 others(48): Show c.3389_*3390insTTATATATTAATATATAATATGTTATATTATATA ATA	C22orf42	ENSG00000205856.4	transcript	ENST00000382097.4	protein_coding		2855		chr22	TogoVar
C22orf42_chr22_32144006_32164303	32147902	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0002 a0002c0007t0002	a0002c0007t0002g0012 a0002c0007t0002g0012	1	398	0.0025	37	c.16 others(48): Show c.1637_*1638insAAAAAAAAATATATATATATATATATATATATAT ATA	C22orf42	ENSG00000205856.4	transcript	ENST00000382097.4	protein_coding		1103		chr22	TogoVar
C2CD2_chr21_41880112_41959018	41947112	T T	TCTCTCTC others(30): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0037 a0001c0003t0037	a0001c0003t0037g0258 a0001c0003t0037g0258	1	396	0.0025	37	c.280 others(54): Show c.280-4868_280-4867insGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAG	C2CD2	ENSG00000157617.17	transcript	ENST00000380486.4	protein_coding	1/13			chr21	TogoVar
C2CD4C_chr19_400445_414147	404061	T T	TGGGGGGG others(30): Show TGGGGGGGGGGACGGGGTCCTGCCCTGAGGGGTGTGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0011 a0001c0001t0009g0011	1	322	0.0031	37	c.30 others(48): Show c.3034_*3035insCCCACACCCCTCAGGGCAGGACCCCGTCCCCCCC CCC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1383		chr19	TogoVar
C2CD4C_chr19_400445_414147	410763	G G	GTCCTGGG others(30): Show GTCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCACGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0031 a0001c0001t0034g0031	1	322	0.0031	37	c.-17 others(48): Show c.-1799_-1798insTCCGTGCCCAGCAGGGGCGGTGGACAGACCCCCA GGA	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1617		chr19	TogoVar
C2CD4C_chr19_400445_414147	410763	G G	GTCCTGGG others(30): Show GTCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0109 a0001c0001t0109	a0001c0001t0109g0089 a0001c0001t0109g0089	1	322	0.0031	37	c.-17 others(48): Show c.-1799_-1798insTCCGGGCCCAGCAGGGGCGGTGGACAGACCCCCA GGA	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1617		chr19	TogoVar
C2CD4C_chr19_400445_414147	410763	G G	GTCCTGGG others(30): Show GTCCTGGGGGTCTGTCCACCGTCACTGCTGGGCACGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp2 NA18906.hp1 HG03041.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0030 a0001c0001t0032g0030	2	322	0.0062	37	c.-17 others(48): Show c.-1799_-1798insTCCGTGCCCAGCAGTGACGGTGGACAGACCCCCA GGA	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1617		chr19	TogoVar
C2CD4C_chr19_400445_414147	410763	G G	GTCCTGGG others(30): Show GTCCTGGGGGTCTGTCCACCGTCACTGCTGGGCCCGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0042 a0001c0001t0030g0042	1	322	0.0031	37	c.-17 others(48): Show c.-1799_-1798insTCCGGGCCCAGCAGTGACGGTGGACAGACCCCCA GGA	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1617		chr19	TogoVar
C2CD4C_chr19_400445_414147	410782	T T	TGCCCCTG others(30): Show TGCCCCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0002 a0001c0002t0003g0002	1	322	0.0031	37	c.-18 others(48): Show c.-1818_-1817insGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGG GGC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1636		chr19	TogoVar
C2CD4C_chr19_400445_414147	410783	G G	GTCTCTGC others(30): Show GTCTCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0036 a0001c0001t0043g0036	1	322	0.0031	37	c.-18 others(48): Show c.-1819_-1818insTGGTGGACAGACCCCCAGGATCCGTGCCCAGCAG AGA	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1637		chr19	TogoVar
C2CD4C_chr19_400445_414147	410786	C C	CCTGCTGG others(30): Show CCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0019 a0001c0001t0007g0019	1	322	0.0031	37	c.-18 others(48): Show c.-1822_-1821insTGACGGTGGACAGACCCCCAGGATCCGTGCCCAG CAG	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1640		chr19	TogoVar
C2CD4C_chr19_400445_414147	410786	C C	CCTGCTGG others(30): Show CCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp1 HG03471.hp2 HG02970.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0034 a0001c0001t0041g0034	2	322	0.0062	37	c.-18 others(48): Show c.-1822_-1821insTGACGGTGGACAGACCCCCAGGATCCGGGCCCAG CAG	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1640		chr19	TogoVar
C2CD4C_chr19_400445_414147	410833	A A	ACGGATCC others(30): Show ACGGATCCTGGGGATCTGTCCACCGCCCCTGCTGGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0094 a0001c0001t0094	a0001c0001t0094g0077 a0001c0001t0094g0077	1	322	0.0031	37	c.-18 others(48): Show c.-1869_-1868insGGCCCAGCAGGGGCGGTGGACAGATCCCCAGGAT CCG	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1687		chr19	TogoVar
C2CD4C_chr19_400445_414147	410860	A A	ACTGCTGG others(30): Show ACTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0036 a0001c0001t0043g0036	1	322	0.0031	37	c.-18 others(48): Show c.-1896_-1895insAGACGGTGGACAGACCCCCAGGATCCGGGCCCAG CAG	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1714		chr19	TogoVar
C2CD4C_chr19_400445_414147	410971	C C	CCTGCTGG others(30): Show CCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0020 a0001c0001t0020g0020	1	322	0.0031	37	c.-20 others(48): Show c.-2007_-2006insTGACGGTGGACAGACCCCCAGGATCCGTGCCCAG CAG	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1825		chr19	TogoVar
C2CD4C_chr19_400445_414147	411008	C C	CCTGCTGG others(30): Show CCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0021 a0001c0001t0025g0021	1	322	0.0031	37	c.-20 others(48): Show c.-2044_-2043insTGACGGTGGACAGACCCCCAGGATCCGGGCCCAG CAG	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1862		chr19	TogoVar
C2CD4C_chr19_400445_414147	411045	C C	CCTGCTGG others(30): Show CCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0098 a0001c0001t0019g0098	1	322	0.0031	37	c.-20 others(48): Show c.-2081_-2080insTGACGGTGGACAGACCCCCAGGATCCGGGCCCAG CAG	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1899		chr19	TogoVar
C2CD4C_chr19_400445_414147	411082	C C	CCTGCTGG others(30): Show CCTGCTGGGCCCGGATCCTGGGGATCTGTCCACCGTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0020 a0001c0001t0020g0020	1	322	0.0031	37	c.-21 others(48): Show c.-2118_-2117insTGACGGTGGACAGATCCCCAGGATCCGGGCCCAG CAG	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1936		chr19	TogoVar
C2CD4C_chr19_400445_414147	411119	C C	CCTGCTGG others(30): Show CCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp1 HG02148.hp1 HG01981.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0137 a0001c0001t0042 a0001c0001t0137	a0001c0001t0042g0035 a0001c0001t0137g0110 a0001c0001t0042g0035 a0001c0001t0137g0110	2	322	0.0062	37	c.-21 others(48): Show c.-2155_-2154insAGACGGTGGACAGACCCCCAGGATCCGTGCCCAG CAG	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1973		chr19	TogoVar
C2CD4C_chr19_400445_414147	411207	A A	ATCCTGGG others(30): Show ATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCACGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0155 a0001c0001t0049g0155	1	322	0.0031	37	c.-22 others(48): Show c.-2243_-2242insCCCGTGCCCAGCAGGGGCGGTGGACAGACCCCCA GGA	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		2061		chr19	TogoVar
C2CD4C_chr19_400445_414147	411302	T T	TCACTGCT others(30): Show TCACTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp1 NA19000.hp2 HG02083.hp1 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0039 a0001c0001t0020 a0001c0001t0039	a0001c0001t0020g0020 a0001c0001t0039g0102 a0001c0001t0020g0020 a0001c0001t0039g0102	2	322	0.0062	37	c.-23 others(48): Show c.-2338_-2337insGTGGTGGACAGACCCCCAGGATCCGGGCCCAGCA GTG	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		2156		chr19	TogoVar
C2CD4C_chr19_400445_414147	411304	T T	TCTGCTGG others(30): Show TCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG02630.hp1 HG03225.hp2 HG02622.hp1 HG02630.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0142 a0001c0001t0004 a0001c0001t0142	a0001c0001t0004g0013 a0001c0001t0142g0050 a0001c0001t0004g0013 a0001c0001t0142g0050	3	322	0.0093	37	c.-23 others(48): Show c.-2340_-2339insGGGCGGTGGACAGACCCCCAGGATCCGGGCCCAG CAG	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		2158		chr19	TogoVar
C2CD4C_chr19_400445_414147	411304	T T	TCTGCTGG others(30): Show TCTGCTGGGCCCGGATCCTTGGGGTCTGTCCACCACCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02572.hp2 HG02886.hp1 others(2): Show HG02258.hp1 HG02572.hp2 HG02886.hp1 HG02922.hp2 HG03209.hp1	a0000 a0001 a0000 a0001	a0000c0003 a0001c0001 a0001c0004 a0000c0003 a0001c0001 a0001c0004	a0000c0003t0095 a0001c0001t0015 a0001c0001t0043 others(2): Show a0000c0003t0095 a0001c0001t0015 a0001c0001t0043 a0001c0001t0114 a0001c0004t0004	a0000c0003t0095g0116 a0001c0001t0015g0010 a0001c0001t0043g0036 others(2): Show a0000c0003t0095g0116 a0001c0001t0015g0010 a0001c0001t0043g0036 a0001c0001t0114g0093 a0001c0004t0004g0004	5	322	0.0155	37	c.-23 others(48): Show c.-2340_-2339insGGGTGGTGGACAGACCCCAAGGATCCGGGCCCAG CAG	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		2158		chr19	TogoVar
C2CD4C_chr19_400445_414147	411304	T T	TCTGCTGG others(30): Show TCTGCTGGGCCCGGATCCTTGGGGTCTGTCCACCGCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0003 a0001c0002t0002g0003	1	322	0.0031	37	c.-23 others(48): Show c.-2340_-2339insGGGCGGTGGACAGACCCCAAGGATCCGGGCCCAG CAG	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		2158		chr19	TogoVar
C2CD4C_chr19_400445_414147	411304	T T	TCTGCTGG others(30): Show TCTGCTGGGCCTGGATCCTTGGGGTCTGTCCACCACCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG00733.hp1 HG01361.hp2 others(4): Show HG00642.hp1 HG00733.hp1 HG01361.hp2 HG02080.hp2 HG03490.hp1 HG03492.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0006 a0001c0002t0028 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0002t0028 a0001c0002t0060	a0001c0001t0001g0001 a0001c0001t0006g0005 a0001c0002t0028g0037 others(1): Show a0001c0001t0001g0001 a0001c0001t0006g0005 a0001c0002t0028g0037 a0001c0002t0060g0124	7	322	0.0217	37	c.-23 others(48): Show c.-2340_-2339insGGGTGGTGGACAGACCCCAAGGATCCAGGCCCAG CAG	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		2158		chr19	TogoVar
C2CD4C_chr19_400445_414147	411314	C C	CCGGATCC others(30): Show CCGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0107 a0001c0001t0107	a0001c0001t0107g0088 a0001c0001t0107g0088	1	322	0.0031	37	c.-23 others(48): Show c.-2350_-2349insTGCCCAGCAGGGGCGGTGGACAGACCCCCAGGAT CCG	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		2168		chr19	TogoVar
C2orf69_chr2_199906293_199933273	199913184	T T	TATATATA others(30): Show TATATATATTCTATATAATATATAATATATTATATATA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	412	0.0024	37	c.333 others(54): Show c.333+1422_333+1423insCTATATAATATATAATATATTATATATA ATATATATT	C2orf69	ENSG00000178074.6	transcript	ENST00000319974.6	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
C2orf78_chr2_73779183_73822148	73810568	G G	GTATATTT others(30): Show GTATATTTTATGTATATTATATATATACATAAAATATA	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	212	0.0047	37	c.98- others(52): Show c.98-2898_98-2862dupGTATATTATATATATACATAAAATATATAT ATTTTAT	C2orf78	ENSG00000187833.8	transcript	ENST00000409561.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
C7orf50_chr7_992006_1143247	1016877	C C	CGCCAGCA others(30): Show CGCCAGCACACAGCAGCGCACGCCAGCACACAGCAGGA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02965.hp1 HG01167.hp2 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0008 a0001c0001t0005 a0001c0001t0008	a0001c0001t0005g0247 a0001c0001t0008g0157 a0001c0001t0005g0247 a0001c0001t0008g0157	2	326	0.0061	37	c.130 others(54): Show c.130-6735_130-6734insTCCTGCTGTGTGCTGGCGTGCGCTGCTG TGTGCTGGC	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1016909	C C	CCAGCACA others(30): Show CCAGCACACAGCAGCGCACGCCAGCACACAGCAGGACG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0287 a0001c0001t0005g0287	1	326	0.0031	37	c.130 others(54): Show c.130-6767_130-6766insCGTCCTGCTGTGTGCTGGCGTGCGCTGC TGTGTGCTG	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar

Search by Variant

Search

Search Results (Total: 3614 hits)