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
TET1_chr10_68555337_68699487	68624608	C C	CTTTCTTT others(38): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0003 a0003	a0003c0033 a0003c0033	a0003c0033t0002 a0003c0033t0002	a0003c0033t0002g0257 a0003c0033t0002g0257	1	282	0.0036	45	c.196 others(66): Show c.1969-20087_1969-20043dupTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTT	TET1	ENSG00000138336.9	transcript	ENST00000373644.5	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr10	TogoVar
TEX11_chrX_70523940_70913711	70869046	A A	ATAAAATA others(38): Show ATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAG	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0100 a0002c0002t0001g0100	1	229	0.0044	45	c.244 others(62): Show c.244+4176_244+4177insCTTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTA	TEX11	ENSG00000120498.14	transcript	ENST00000374333.7	protein_coding	4/29			chrX	TogoVar
TEX33_chr22_36986125_37012851	36999580	G G	GGGAGGGG others(38): Show GGGAGGGGAGGGGGGAGGGGAGGGGGGGAGGGGAGGGGGGAGGGGA	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0001 a0006c0012t0001	a0006c0012t0001g0217 a0006c0012t0001g0217	1	418	0.0024	45	c.634 others(60): Show c.634+259_634+260insTCCCCTCCCCCCTCCCCTCCCCCCCTCCCC TCCCCCCTCCCCTCC	TEX33	ENSG00000185264.12	transcript	ENST00000381821.2	protein_coding	4/5			chr22	TogoVar
TEX49_chr12_48722435_48770790	48754861	T T	TTCAGCCT others(38): Show TTCAGCCTCCCGAGTAGCTGGGACCACAGGCTCGTGCCACCATACC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02630.hp2 HG03195.hp2 others(1): Show HG01167.hp1 HG02630.hp2 HG03195.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0040 a0001c0001t0001g0042 others(1): Show a0001c0001t0001g0035 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0126	4	322	0.0124	45	c.80- others(60): Show c.80-4337_80-4293dupGAGTAGCTGGGACCACAGGCTCGTGCCACC ATACCTCAGCCTCCC	TEX49	ENSG00000257987.6	transcript	ENST00000548380.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr12	TogoVar
TFAP2D_chr6_50708526_50778033	50757794	G G	GAATATAT others(38): Show GAATATATATAATTATATATATAGAATATATATAATTATATATATA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	334	0.0030	45	c.113 others(64): Show c.1139+6479_1139+6523dupTAATTATATATATAGAATATATATAA TTATATATATAAATATATA	TFAP2D	ENSG00000008197.5	transcript	ENST00000008391.4	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
TFDP2_chr3_141939428_142154544	141969022	A A	ATAACATA others(38): Show ATAACATATATATATCTCATATATATGAGATATATATATATAACAT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0088 a0001c0001t0088	a0001c0001t0088g0161 a0001c0001t0088g0161	1	252	0.0040	45	c.732 others(62): Show c.732+1050_732+1051insATGTTATATATATATATCTCATATATAT GAGATATATATATGTTA	TFDP2	ENSG00000114126.18	transcript	ENST00000489671.6	protein_coding	9/12			chr3	TogoVar
TGFBR3L_chr19_7909830_7924097	7910790	A A	AGATGACA others(38): Show AGATGACAGTGGCGGTGAGTGACCAGGCGGGGCTTGCACTGGGCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG00621.hp1 HG02027.hp2 others(14): Show HG00544.hp2 HG00621.hp1 HG02027.hp2 HG02155.hp1 NA18948.hp2 NA18956.hp2 NA18959.hp2 NA18964.hp1 NA18980.hp1 NA19005.hp2 NA19009.hp2 NA19060.hp1 NA19065.hp1 NA19087.hp2 NA19088.hp1 NA19089.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0001 a0001c0001t0004g0010 a0001c0001t0004g0001 a0001c0001t0004g0010	17	446	0.0381	45	c.-54 others(56): Show c.-5478_-5477insGATGACAGTGGCGGTGAGTGACCAGGCGGGGCTT GCACTGGGCAG	TGFBR3L	ENSG00000260001.7	transcript	ENST00000565886.2	protein_coding		4039		chr19	TogoVar
TGM3_chr20_2291001_2346079	2317922	C C	CATATATA others(38): Show CATATATATATATATATCATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0017 a0017	a0017c0022 a0017c0022	a0017c0022t0001 a0017c0022t0001	a0017c0022t0001g0131 a0017c0022t0001g0131	1	360	0.0028	45	c.983 others(60): Show c.983+453_983+454insCATATATATATATATATATATATATATATA TATATATATATATAT	TGM3	ENSG00000125780.12	transcript	ENST00000381458.6	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
TG_chr8_132861958_133139899	133024797	A A	ATCCAGTC others(38): Show ATCCAGTCTATCAGTGATGGGCGTTTGGGTTGGTTCCAAGTCTTTG	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0080 a0080	a0080c0051 a0080c0051	a0080c0051t0001 a0080c0051t0001	a0080c0051t0001g0018 a0080c0051t0001g0018	1	216	0.0046	45	c.703 others(64): Show c.7036+2648_7036+2692dupTCCAGTCTATCAGTGATGGGCGTTTG GGTTGGTTCCAAGTCTTTG	TG	ENSG00000042832.12	transcript	ENST00000220616.9	protein_coding	40/47		INFO_REALIGN_3_PRIME	chr8	TogoVar
THAP4_chr2_241579405_241642158	241579842	G G	GAGCTAAC others(38): Show GAGCTAACCCACGGCGAGCTAACCCACGGCCAGCTAACCCACGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03471.hp2 HG03453.hp2 HG03471.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0153 a0002c0005t0001g0154 a0002c0005t0001g0153 a0002c0005t0001g0154	2	390	0.0051	45	c.47 others(56): Show c.4763_*4764insGGCCGTGGGTTAGCTGGCCGTGGGTTAGCTCGCC GTGGGTTAGCT	THAP4	ENSG00000176946.13	transcript	ENST00000407315.6	protein_coding		4562		chr2	TogoVar
THAP4_chr2_241579405_241642158	241579877	A A	AACCCACG others(38): Show AACCCACGGCCAGCTAACCCACGGCCAGCTAACCCACGGCCAGCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG01346.hp2 HG01952.hp2 others(10): Show HG00639.hp1 HG01346.hp2 HG01952.hp2 HG03490.hp2 HG03492.hp1 HG03654.hp1 HG03704.hp2 HG04184.hp1 HG04184.hp2 NA18948.hp2 NA18950.hp2 NA19055.hp1 NA19081.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0004 a0001c0002t0001 a0001c0002t0004	a0001c0002t0001g0025 a0001c0002t0001g0282 a0001c0002t0001g0287 others(10): Show a0001c0002t0001g0025 a0001c0002t0001g0282 a0001c0002t0001g0287 a0001c0002t0001g0305 a0001c0002t0001g0314 a0001c0002t0001g0317 a0001c0002t0001g0318 a0001c0002t0001g0320 a0001c0002t0001g0333 a0001c0002t0001g0349 a0001c0002t0001g0351 a0001c0002t0001g0361 a0001c0002t0004g0364	13	390	0.0333	45	c.47 others(56): Show c.4728_*4729insAAGCTGGCCGTGGGTTAGCTGGCCGTGGGTTAGC TGGCCGTGGGT	THAP4	ENSG00000176946.13	transcript	ENST00000407315.6	protein_coding		4527		chr2	TogoVar
THAP4_chr2_241579405_241642158	241579932	C C	CAGCTAAC others(38): Show CAGCTAACCCACGGCCAGCTAACCCACGGCCAGCTTACCCACGGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp1 HG02074.hp1 HG02293.hp1 others(10): Show HG01981.hp1 HG02074.hp1 HG02293.hp1 NA18942.hp1 NA18953.hp1 NA18962.hp2 NA18965.hp1 NA18971.hp2 NA18984.hp1 NA18991.hp1 NA19000.hp1 NA19066.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0027 a0001c0001t0001g0043 a0001c0001t0001g0044 others(10): Show a0001c0001t0001g0027 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053	13	390	0.0333	45	c.46 others(56): Show c.4673_*4674insCGCCGTGGGTAAGCTGGCCGTGGGTTAGCTGGCC GTGGGTTAGCT	THAP4	ENSG00000176946.13	transcript	ENST00000407315.6	protein_coding		4472		chr2	TogoVar
THAP4_chr2_241579405_241642158	241579937	A A	AACCCACG others(38): Show AACCCACGGCCAGCTAACCCACGGCCAGCTTACCCACGGCCAGCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00544.hp1 HG00642.hp1 others(13): Show HG00423.hp2 HG00544.hp1 HG00642.hp1 HG01081.hp1 HG01243.hp2 HG02135.hp1 HG02257.hp1 HG02280.hp1 HG02572.hp1 HG02970.hp1 HG03239.hp1 HG03516.hp2 NA18952.hp2 NA19043.hp2 NA19084.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0004 a0001c0002 a0002c0004	a0001c0002t0001 a0002c0004t0001 a0002c0004t0003 a0001c0002t0001 a0002c0004t0001 a0002c0004t0003	a0001c0002t0001g0002 a0001c0002t0001g0202 a0001c0002t0001g0203 others(11): Show a0001c0002t0001g0002 a0001c0002t0001g0202 a0001c0002t0001g0203 a0001c0002t0001g0204 a0001c0002t0001g0206 a0001c0002t0001g0208 a0002c0004t0001g0164 a0002c0004t0001g0165 a0002c0004t0001g0166 a0002c0004t0001g0169 a0002c0004t0001g0170 a0002c0004t0001g0238 a0002c0004t0001g0359 a0002c0004t0003g0158	16	390	0.0410	45	c.46 others(56): Show c.4668_*4669insAAGCTGGCCGTGGGTAAGCTGGCCGTGGGTTAGC TGGCCGTGGGT	THAP4	ENSG00000176946.13	transcript	ENST00000407315.6	protein_coding		4467		chr2	TogoVar
THAP4_chr2_241579405_241642158	241579997	A A	AACCCACG others(38): Show AACCCACGGCCAGCTTACCCACGGCGAGCTAACCCACGGCCAGCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp2 NA18906.hp1 HG03209.hp2 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0198 a0001c0002t0001g0199 a0001c0002t0001g0198 a0001c0002t0001g0199	2	390	0.0051	45	c.46 others(56): Show c.4608_*4609insAAGCTGGCCGTGGGTTAGCTCGCCGTGGGTAAGC TGGCCGTGGGT	THAP4	ENSG00000176946.13	transcript	ENST00000407315.6	protein_coding		4407		chr2	TogoVar
THAP4_chr2_241579405_241642158	241580089	C C	CCCACGGC others(38): Show CCCACGGCGAGCTTACCCACGGCGAGCTAACCCACGGCGAGCTAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0073 a0003c0007t0001g0073	1	390	0.0026	45	c.45 others(56): Show c.4516_*4517insATTAGCTCGCCGTGGGTTAGCTCGCCGTGGGTAA GCTCGCCGTGG	THAP4	ENSG00000176946.13	transcript	ENST00000407315.6	protein_coding		4315		chr2	TogoVar
THBS2_chr6_169210785_169258846	169215058	T T	TTCTCTCT others(38): Show TTCTCTCTGGATGCCCTCTCTCCCTCTCTCCCTCCCTCTCTTCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp2 HG02165.hp2 HG02040.hp2 HG02165.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0024 a0001c0003t0002 a0001c0003t0024	a0001c0003t0002g0259 a0001c0003t0024g0260 a0001c0003t0002g0259 a0001c0003t0024g0260	2	396	0.0051	45	c.27 others(56): Show c.2763_*2764insGGGGAAGAGAGGGAGGGAGAGAGGGAGAGAGGGC ATCCAGAGAGA	THBS2	ENSG00000186340.17	transcript	ENST00000617924.6	protein_coding		726		chr6	TogoVar
THEM4_chr1_151865866_151914511	151867588	C C	CTCCTCTT others(38): Show CTCCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 NA18974.hp2 NA19078.hp2 HG00597.hp1 NA18974.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0020 a0001c0001t0001g0072 a0001c0001t0001g0002 a0001c0001t0001g0020 a0001c0001t0001g0072	3	374	0.0080	45	c.72 others(56): Show c.7299_*7300insAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAGGA	THEM4	ENSG00000159445.13	transcript	ENST00000368814.8	protein_coding		3277		chr1	TogoVar
THOC6_chr16_3019035_3032750	3032594	A A	AATGATAG others(38): Show AATGATAGAGAGTAAGGAGTGGGGTGGGGGTGGAGGGTCCTTCAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	396	0.0025	45	c.49 others(56): Show c.4937_*4938insATGATAGAGAGTAAGGAGTGGGGTGGGGGTGGAG GGTCCTTCAAG	THOC6	ENSG00000131652.14	transcript	ENST00000326266.13	protein_coding		4845		chr16	TogoVar
THSD4_chr15_71110471_71788383	71577709	A A	ATTTATTT others(38): Show ATTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01167.hp1 HG01169.hp2 others(4): Show HG00642.hp2 HG01167.hp1 HG01169.hp2 HG02004.hp2 HG02809.hp1 HG03669.hp2 HG04228.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0002c0005 a0003c0010	a0001c0001t0036 a0001c0003t0009 a0001c0004t0026 others(4): Show a0001c0001t0036 a0001c0003t0009 a0001c0004t0026 a0002c0005t0003 a0002c0005t0004 a0002c0005t0019 a0003c0010t0027	a0001c0001t0036g0089 a0001c0003t0009g0057 a0001c0004t0026g0061 others(4): Show a0001c0001t0036g0089 a0001c0003t0009g0057 a0001c0004t0026g0061 a0002c0005t0003g0004 a0002c0005t0004g0107 a0002c0005t0019g0003 a0003c0010t0027g0088	7	116	0.0603	45	c.115 others(66): Show c.1153-82793_1153-82792insATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTATTTT	THSD4	ENSG00000187720.15	transcript	ENST00000261862.8	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr15	TogoVar
THSD4_chr15_71110471_71788383	71724287	A A	ATATATAT others(38): Show ATATATATATATATATATATATATATATATACATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0074 a0001c0001t0010g0074	1	116	0.0086	45	c.135 others(64): Show c.1358-4261_1358-4260insATATATATATATATATATATATATAT ATACATATATATATATATT	THSD4	ENSG00000187720.15	transcript	ENST00000261862.8	protein_coding	8/17		INFO_REALIGN_3_PRIME	chr15	TogoVar
THSD4_chr15_71110471_71788383	71724288	T T	TATATATA others(38): Show TATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0026 a0001c0002t0006g0026	1	116	0.0086	45	c.135 others(64): Show c.1358-4261_1358-4260insATATATATATATATATATATATATAT ATATATATATATATATATA	THSD4	ENSG00000187720.15	transcript	ENST00000261862.8	protein_coding	8/17			chr15	TogoVar
THSD7A_chr7_11365365_11837198	11509821	C C	CAAAAAAA others(38): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0011 a0011	a0011c0021 a0011c0021	a0011c0021t0001 a0011c0021t0001	a0011c0021t0001g0004 a0011c0021t0001g0004	1	180	0.0056	45	c.182 others(66): Show c.1823-27840_1823-27839insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTT	THSD7A	ENSG00000005108.17	transcript	ENST00000423059.9	protein_coding	6/27			chr7	TogoVar
THSD7A_chr7_11365365_11837198	11769153	A A	ATATATAT others(38): Show ATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0043 a0001c0043	a0001c0043t0003 a0001c0043t0003	a0001c0043t0003g0053 a0001c0043t0003g0053	1	180	0.0056	45	c.190 others(64): Show c.190+62603_190+62604insAAAAAAAAAAAAAAAAAAATATATAT ATATATATATATATATATA	THSD7A	ENSG00000005108.17	transcript	ENST00000423059.9	protein_coding	1/27			chr7	TogoVar
THSD7A_chr7_11365365_11837198	11769153	A A	ATATATAT others(38): Show ATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0003 a0002c0009t0003	a0002c0009t0003g0036 a0002c0009t0003g0036	1	180	0.0056	45	c.190 others(64): Show c.190+62603_190+62604insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAATATATATATATATA	THSD7A	ENSG00000005108.17	transcript	ENST00000423059.9	protein_coding	1/27			chr7	TogoVar
TH_chr11_2158929_2176815	2161578	A A	AGACCCCT others(38): Show AGACCCCTGTCCCCAGGACCCCTGTCCCCAGGACCCCTGTCCCCAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00597.hp2 HG01069.hp2 others(17): Show HG00323.hp1 HG00597.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01099.hp1 HG01123.hp1 HG01361.hp1 HG02132.hp1 HG02602.hp1 HG02683.hp1 HG02698.hp1 HG03491.hp1 HG03492.hp2 HG03704.hp2 HG04199.hp2 NA19002.hp2 NA19007.hp2 NA19009.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0002c0001t0001 a0001c0002t0001 a0002c0001t0001	a0001c0002t0001g0003 a0002c0001t0001g0002 a0002c0001t0001g0010 others(3): Show a0001c0002t0001g0003 a0002c0001t0001g0002 a0002c0001t0001g0010 a0002c0001t0001g0011 a0002c0001t0001g0024 a0002c0001t0001g0042	20	388	0.0516	45	c.26 others(56): Show c.2654_*2655insCTGGGGACAGGGGTCCTGGGGACAGGGGTCCTGG GGACAGGGGTC	TH	ENSG00000180176.15	transcript	ENST00000352909.8	protein_coding		2350		chr11	TogoVar
TH_chr11_2158929_2176815	2161578	A A	AGACCCCT others(38): Show AGACCCCTGTCCCCAGGACCCCTGTCCCCAGGACCCCTGTCCCCGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG00733.hp1 HG00738.hp1 others(31): Show HG00558.hp1 HG00733.hp1 HG00738.hp1 HG01069.hp1 HG01074.hp1 HG01081.hp2 HG01099.hp2 HG01167.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01516.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02055.hp1 HG02155.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG03669.hp1 HG04199.hp1 HG04204.hp2 NA18747.hp2 NA18948.hp1 NA18948.hp2 NA18980.hp2 NA19007.hp1 NA19090.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0001 a0001c0002 a0001c0003 a0002c0001	a0001c0002t0001 a0001c0003t0001 a0002c0001t0001 a0001c0002t0001 a0001c0003t0001 a0002c0001t0001	a0001c0002t0001g0003 a0001c0002t0001g0030 a0001c0002t0001g0040 others(7): Show a0001c0002t0001g0003 a0001c0002t0001g0030 a0001c0002t0001g0040 a0001c0003t0001g0004 a0002c0001t0001g0001 a0002c0001t0001g0006 a0002c0001t0001g0041 a0002c0001t0001g0055 a0002c0001t0001g0067 a0002c0001t0001g0092	34	388	0.0876	45	c.26 others(56): Show c.2654_*2655insCCGGGGACAGGGGTCCTGGGGACAGGGGTCCTGG GGACAGGGGTC	TH	ENSG00000180176.15	transcript	ENST00000352909.8	protein_coding		2350		chr11	TogoVar
TH_chr11_2158929_2176815	2161607	C C	CACCCCTG others(38): Show CACCCCTGTCCCCAGGACCCCTGTCCCCAGGACCCCTGTCCCCAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02559.hp2 HG02970.hp1 others(3): Show HG02258.hp2 HG02559.hp2 HG02970.hp1 HG03041.hp1 NA19043.hp2 NA20300.hp2	a0001 a0001	a0001c0007 a0001c0008 a0001c0007 a0001c0008	a0001c0007t0001 a0001c0008t0001 a0001c0007t0001 a0001c0008t0001	a0001c0007t0001g0025 a0001c0008t0001g0026 a0001c0007t0001g0025 a0001c0008t0001g0026	6	388	0.0155	45	c.26 others(56): Show c.2625_*2626insCCTGGGGACAGGGGTCCTGGGGACAGGGGTCCTG GGGACAGGGGT	TH	ENSG00000180176.15	transcript	ENST00000352909.8	protein_coding		2321		chr11	TogoVar
TH_chr11_2158929_2176815	2161678	G G	GGACCCCT others(38): Show GGACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	1	388	0.0026	45	c.25 others(56): Show c.2554_*2555insGTGGGGGACAGGGGTCCTGGGGACAGGGGTGTGG GGACAGGGGTC	TH	ENSG00000180176.15	transcript	ENST00000352909.8	protein_coding		2250		chr11	TogoVar
TH_chr11_2158929_2176815	2161771	T T	TCCCCGGG others(38): Show TCCCCGGGACCCCTGTCCCCACACCCCTGTCCCCCACACCCCTGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	1	388	0.0026	45	c.24 others(56): Show c.2461_*2462insGACAGGGGTGTGGGGGACAGGGGTGTGGGGACAG GGGTCCCGGGG	TH	ENSG00000180176.15	transcript	ENST00000352909.8	protein_coding		2157		chr11	TogoVar
TIAM1_chr21_31113418_31349261	31228233	A A	AAAAAAAA others(38): Show AAAAAAAAAAAAAAAGGAGAAATAATCTGATAAGGATTTTTCCTTT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0132 a0001c0001t0002g0132	1	212	0.0047	45	c.158 others(64): Show c.1585-2284_1585-2283insAAAGGAAAAATCCTTATCAGATTATT TCTCCTTTTTTTTTTTTTT	TIAM1	ENSG00000156299.15	transcript	ENST00000541036.6	protein_coding	6/27			chr21	TogoVar
TIAM2_chr6_154990315_155262723	155017113	T T	TCCCCCCC others(38): Show TCCCCCCCCCCCCCCCTCCCCCCCCCCCCCCCCCCTCCCCCGCCTC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0002 a0002	a0002c0032 a0002c0032	a0002c0032t0003 a0002c0032t0003	a0002c0032t0003g0110 a0002c0032t0003g0110	1	230	0.0044	45	c.-20 others(66): Show c.-209+21621_-209+21622insCCCCCCCCCCCCCCCTCCCCCCCC CCCCCCCCCCTCCCCCGCCTC	TIAM2	ENSG00000146426.19	transcript	ENST00000682666.1	protein_coding	1/26			chr6	TogoVar
TIMD4_chr5_156914292_156968226	156933006	A A	AAAAAGAA others(38): Show AAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0276 a0005c0006t0001g0276	1	312	0.0032	45	c.845 others(62): Show c.845-6695_845-6694insCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTT	TIMD4	ENSG00000145850.9	transcript	ENST00000274532.7	protein_coding	5/8			chr5	TogoVar
TLCD4_chr1_95112355_95202607	95115088	T T	TTATATAT others(38): Show TTATATATATATACATATATATATACACATTATATATATATACATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0082 a0001c0001t0003g0082	1	378	0.0027	45	c.-25 others(56): Show c.-2541_-2540insTATATATATATACATATATATATACACATTATAT ATATATACATA	TLCD4	ENSG00000152078.10	transcript	ENST00000370203.9	protein_coding		2266		chr1	TogoVar
TLL2_chr10_96359608_96518926	96361946	A A	ATACAATA others(38): Show ATACAATACAATACAATACAATACAATACAGTACAGTACAGTACAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0255 a0001c0001t0041g0255	1	256	0.0039	45	c.61 others(56): Show c.6141_*6142insCTGTACTGTACTGTACTGTATTGTATTGTATTGT ATTGTATTGTA	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding		2661		chr10	TogoVar
TLL2_chr10_96359608_96518926	96361976	G G	GTACAGTA others(38): Show GTACAGTACAGTACAGTACAGTACAGTACAATACAATACAATACAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0077 a0001c0003t0001g0077	1	256	0.0039	45	c.61 others(56): Show c.6111_*6112insTTGTATTGTATTGTATTGTACTGTACTGTACTGT ACTGTACTGTA	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding		2631		chr10	TogoVar
TLN2_chr15_62385550_62849631	62631518	C C	CTTCCTTT others(38): Show CTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02630.hp1 HG02622.hp2 HG02630.hp1	a0001 a0001	a0001c0002 a0001c0060 a0001c0002 a0001c0060	a0001c0002t0016 a0001c0060t0042 a0001c0002t0016 a0001c0060t0042	a0001c0002t0016g0143 a0001c0060t0042g0017 a0001c0002t0016g0143 a0001c0060t0042g0017	2	144	0.0139	45	c.-37 others(64): Show c.-37+13072_-37+13073insTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCC	TLN2	ENSG00000171914.17	transcript	ENST00000636159.2	protein_coding	3/58		INFO_REALIGN_3_PRIME	chr15	TogoVar
TLR6_chr4_38817897_38861817	38838962	A A	AAGGGAGG others(38): Show AAGGGAGGAAGGAAGGAAGGAAGGGAGGAAGGAAGGAAGGAAGGGG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02145.hp2 HG02559.hp2 others(8): Show HG01109.hp1 HG02145.hp2 HG02559.hp2 HG02647.hp1 HG02717.hp1 HG02818.hp1 HG02897.hp2 HG02976.hp2 HG03209.hp1 HG03486.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0012 a0001c0002t0024 others(1): Show a0001c0002t0001 a0001c0002t0012 a0001c0002t0024 a0001c0002t0059	a0001c0002t0001g0195 a0001c0002t0012g0029 a0001c0002t0012g0030 others(4): Show a0001c0002t0001g0195 a0001c0002t0012g0029 a0001c0002t0012g0030 a0001c0002t0012g0171 a0001c0002t0024g0190 a0001c0002t0024g0215 a0001c0002t0059g0214	11	408	0.0270	45	c.-64 others(62): Show c.-64-9426_-64-9425insCCCCTTCCTTCCTTCCTTCCTCCCTTCC TTCCTTCCTTCCTCCCT	TLR6	ENSG00000174130.13	transcript	ENST00000508254.6	protein_coding	1/1			chr4	TogoVar
TM4SF4_chr3_149469697_149508394	149505248	A A	ATCTGATT others(38): Show ATCTGATTCAAGTCTAGGTACTAGGAGTACCTAACCTAGCACATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0005 a0001c0003t0002g0005	1	420	0.0024	45	c.25 others(56): Show c.2555_*2556insTCTGATTCAAGTCTAGGTACTAGGAGTACCTAAC CTAGCACATAT	TM4SF4	ENSG00000169903.7	transcript	ENST00000305354.5	protein_coding		1855		chr3	TogoVar
TM9SF4_chr20_32104714_32172256	32123199	G G	GGGGGAGG others(38): Show GGGGGAGGGGGAGGGGGGAGGGGGGAGGGGGAGGGGGGAGGGGGGA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	298	0.0034	45	c.16- others(60): Show c.16-9810_16-9809insAGGGGGAGGGGGGAGGGGGGAGGGGGAGGG GGGAGGGGGGAGGGG	TM9SF4	ENSG00000101337.16	transcript	ENST00000398022.7	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
TM9SF4_chr20_32104714_32172256	32123218	A A	AGGGGGGG others(38): Show AGGGGGGGAGGGGGAGAGGGGGAGGGGGGAGGGGGAGAGGGAGAGG	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	298	0.0034	45	c.16- others(60): Show c.16-9790_16-9789insGGAGGGGGAGAGGGGGAGGGGGGAGGGGGA GAGGGAGAGGGGGGG	TM9SF4	ENSG00000101337.16	transcript	ENST00000398022.7	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
TMCC3_chr12_94562122_94655557	94592661	C C	CAAAAAAA others(38): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	378	0.0027	45	c.79- others(62): Show c.79-10124_79-10123insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTT	TMCC3	ENSG00000057704.13	transcript	ENST00000261226.9	protein_coding	1/3			chr12	TogoVar
TMCO6_chr5_140634451_140650404	140648007	G G	GTGTGTGT others(38): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	406	0.0025	45	c.29 others(56): Show c.2909_*2910insTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGT	TMCO6	ENSG00000113119.13	transcript	ENST00000394671.8	protein_coding		2604		chr5	TogoVar
TMEM106A_chr17_43206875_43225041	43207740	T T	TCGGGAAT others(38): Show TCGGGAATAATGACAAAAAAGTTTGTACGTGTTCCTTTTTTTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	374	0.0027	45	c.-43 others(56): Show c.-4372_-4371insCGGGAATAATGACAAAAAAGTTTGTACGTGTTCC TTTTTTTCTCC	TMEM106A	ENSG00000184988.8	transcript	ENST00000612339.4	protein_coding		4134		chr17	TogoVar
TMEM116_chr12_111926298_112018165	111929557	G G	GAAGGAAG others(38): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0293 a0002c0002t0001g0293	1	342	0.0029	45	c.20 others(56): Show c.2063_*2064insTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTT	TMEM116	ENSG00000198270.13	transcript	ENST00000552374.7	protein_coding		1740		chr12	TogoVar
TMEM119_chr12_108584851_108603084	108602503	T T	TGAATTTT others(38): Show TGAATTTTTTCTTTTCTTTTTTTTTTTCTTTTGAGACAAGGTTTCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0013 a0001c0002t0001g0013	1	444	0.0023	45	c.-45 others(56): Show c.-4549_-4548insCGAAACCTTGTCTCAAAAGAAAAAAAAAAAGAAA AGAAAAAATTC	TMEM119	ENSG00000183160.9	transcript	ENST00000392806.4	protein_coding		4420		chr12	TogoVar
TMEM120A_chr7_75981831_75999595	75989077	T T	TGGAGGGG others(38): Show TGGAGGGGTGGAGGTTGAGGGGGGGAGGGGTGGAGGTTGAGGGGGG	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	368	0.0027	45	c.377 others(58): Show c.377+87_377+88insCCCCCCTCAACCTCCACCCCTCCCCCCCTCAA CCTCCACCCCTCC	TMEM120A	ENSG00000189077.11	transcript	ENST00000493111.7	protein_coding	4/11			chr7	TogoVar
TMEM120A_chr7_75981831_75999595	75989077	T T	TGGAGGGG others(38): Show TGGAGGGGTGGAGGTTGAGGGGGGGGAGGGGTGGAGGTTGAGGGGG	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02135.hp1 HG03490.hp2 others(1): Show HG00621.hp1 HG02135.hp1 HG03490.hp2 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0062 a0001c0001t0001g0086 a0001c0001t0001g0204 others(1): Show a0001c0001t0001g0062 a0001c0001t0001g0086 a0001c0001t0001g0204 a0001c0001t0002g0273	4	368	0.0109	45	c.377 others(58): Show c.377+87_377+88insCCCCCTCAACCTCCACCCCTCCCCCCCCTCAA CCTCCACCCCTCC	TMEM120A	ENSG00000189077.11	transcript	ENST00000493111.7	protein_coding	4/11			chr7	TogoVar
TMEM120A_chr7_75981831_75999595	75989102	A A	AGGGGTGG others(38): Show AGGGGTGGAGGTTGAGGGGGGGAGGGGTGGAGGTTGAGGGGGGGAG	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	368	0.0027	45	c.377 others(58): Show c.377+62_377+63insCTCCCCCCCTCAACCTCCACCCCTCCCCCCCT CAACCTCCACCCC	TMEM120A	ENSG00000189077.11	transcript	ENST00000493111.7	protein_coding	4/11			chr7	TogoVar
TMEM120A_chr7_75981831_75999595	75989106	G G	GTGGAGGT others(38): Show GTGGAGGTTGAGGGGGGGAGGGGTGGAGGTTGAGGGGGGGAGGGGT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01099.hp1 HG02004.hp1 others(5): Show HG00438.hp1 HG01099.hp1 HG02004.hp1 HG02145.hp2 NA18943.hp2 NA18982.hp2 NA19060.hp2 NA19080.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0009 a0001c0001 a0001c0002 a0004c0009	a0001c0001t0001 a0001c0002t0001 a0004c0009t0001 a0001c0001t0001 a0001c0002t0001 a0004c0009t0001	a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0081 others(5): Show a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0081 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0196 a0001c0002t0001g0056 a0004c0009t0001g0066	8	368	0.0217	45	c.377 others(58): Show c.377+58_377+59insACCCCTCCCCCCCTCAACCTCCACCCCTCCCC CCCTCAACCTCCA	TMEM120A	ENSG00000189077.11	transcript	ENST00000493111.7	protein_coding	4/11			chr7	TogoVar
TMEM131L_chr4_153461360_153641711	153638888	G G	GAGTTTGA others(38): Show GAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTTTCTCTACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0096 a0002c0007t0001g0096	1	248	0.0040	45	c.23 others(56): Show c.2312_*2313insAGTTTGAGACCAGCCTGGCCAACATGGTGAAACC CTTTCTCTACT	TMEM131L	ENSG00000121210.16	transcript	ENST00000409959.8	protein_coding		2178		chr4	TogoVar

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Search Results (Total: 2640 hits)