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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cds cds pos length	aa aa pos length	distance	status	chr	external
CATSPER1_chr11_66011752_66031479	66020809	A A	G G	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA19003.hp2 NA19003.hp2	a0012 a0012	a0012c0025 a0012c0025	a0012c0025t0001 a0012c0025t0001	a0012c0025t0001g0134 a0012c0025t0001g0134	1	408	0.0025	0	c.192 others(6): Show c.1927+2T>C		CATSPER1	ENSG00000175294.6	transcript	ENST00000312106.6	protein_coding	6/11					chr11	TogoVar
CATSPER1_chr11_66011752_66031479	66021479	GAGCCGTG others(26): Show GAGCCGTGGCCACTGACCTGAGCCTCCGCAGGAC	G G	frameshift_variant others(3): Show frameshift_variant splice_donor_variant splice_region_variant intron_variant	HIGH	NA19003.hp2 NA19003.hp2	a0012 a0012	a0012c0025 a0012c0025	a0012c0025t0001 a0012c0025t0001	a0012c0025t0001g0134 a0012c0025t0001g0134	1	408	0.0025	-33	c.167 others(45): Show c.1675_1691+16delGTCCTGCGGAGGCTCAGGTCAGTGGCCACGGCT	p.Val others(5): Show p.Val559fs	CATSPER1	ENSG00000175294.6	transcript	ENST00000312106.6	protein_coding	4/12	1675/2343	559/780			chr11	TogoVar
CBARP_chr19_1223287_1243005	1234189	A A	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02896.hp1 HG02896.hp1	a0009 a0009	a0009c0029 a0009c0029	a0009c0029t0002 a0009c0029t0002	a0009c0029t0002g0083 a0009c0029t0002g0083	1	408	0.0025	0	c.768 others(5): Show c.768+2T>A		CBARP	ENSG00000099625.14	transcript	ENST00000650044.2	protein_coding	7/9					chr19	TogoVar
CC2D2A_chr4_15464882_15606552	15516005	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	344	0.0029	0	c.101 others(6): Show c.1017+1G>A		CC2D2A	ENSG00000048342.18	transcript	ENST00000424120.6	protein_coding	10/36					chr4	TogoVar
CC2D2B_chr10_95902975_96038745	96024912	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	312	0.0032	0	c.394 others(6): Show c.3947+1G>A		CC2D2B	ENSG00000188649.16	transcript	ENST00000646931.3	protein_coding	33/34					chr10	TogoVar
CCDC13_chr3_42700756_42778253	42735706	C C	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG03017.hp2 HG03017.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0135 a0002c0002t0002g0135	1	320	0.0031	0	c.137 others(6): Show c.1371+1G>A		CCDC13	ENSG00000244607.7	transcript	ENST00000310232.11	protein_coding	10/15					chr3	TogoVar
CCDC157_chr22_30352007_30383673	30375665	T T	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0205 a0001c0001t0003g0205	1	440	0.0023	0	c.185 others(6): Show c.1857+2T>C		CCDC157	ENSG00000187860.11	transcript	ENST00000338306.8	protein_coding	10/11					chr22	TogoVar
CCDC159_chr19_11341519_11359944	11354697	G G	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02615.hp1 HG02615.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0054 a0002c0002t0001g0054	1	358	0.0028	0	c.889 others(5): Show c.889+1G>T		CCDC159	ENSG00000183401.12	transcript	ENST00000458408.6	protein_coding	10/10					chr19	TogoVar
CCDC78_chr16_717582_731443	723856	C C	G G	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA19064.hp1 NA19065.hp2 NA19064.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	2	390	0.0051	0	c.113 others(6): Show c.1133+1G>C		CCDC78	ENSG00000162004.19	transcript	ENST00000345165.10	protein_coding	11/13					chr16	TogoVar
CCDC7_chr10_32441140_32887864	32518506	G G	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00558.hp2 HG00597.hp2 HG00609.hp1 others(44): Show HG00558.hp2 HG00597.hp2 HG00609.hp1 HG01071.hp2 HG01346.hp2 HG01433.hp2 HG01515.hp2 HG01517.hp1 HG01943.hp1 HG02027.hp2 HG02040.hp1 HG02083.hp1 HG02135.hp2 HG02145.hp1 HG02165.hp1 HG02293.hp1 HG02602.hp2 HG02738.hp1 HG03017.hp2 HG03239.hp1 HG03492.hp1 HG03516.hp2 NA18939.hp2 NA18940.hp1 NA18947.hp1 NA18957.hp1 NA18960.hp2 NA18961.hp1 NA18965.hp2 NA18966.hp2 NA18971.hp2 NA18975.hp2 NA18977.hp2 NA18979.hp2 NA18980.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA19058.hp2 NA19068.hp2 NA19077.hp1 NA19080.hp1 NA19085.hp1 NA19088.hp2 NA20129.hp2 NA20300.hp2 NA20805.hp2	a0001 a0020 a0001 a0020	a0001c0002 a0020c0018 a0001c0002 a0020c0018	a0001c0002t0001 a0020c0018t0001 a0001c0002t0001 a0020c0018t0001	a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0127 others(44): Show a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0156 a0001c0002t0001g0157 a0001c0002t0001g0158 a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0002t0001g0163 a0001c0002t0001g0164 a0001c0002t0001g0166 a0001c0002t0001g0167 a0001c0002t0001g0168 a0001c0002t0001g0169 a0001c0002t0001g0170 a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0174 a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0187 a0001c0002t0001g0188 a0001c0002t0001g0189 a0001c0002t0001g0190 a0001c0002t0001g0191 a0001c0002t0001g0192 a0001c0002t0001g0193 a0001c0002t0001g0194 a0001c0002t0001g0195 a0001c0002t0001g0197 a0001c0002t0001g0198 a0001c0002t0001g0199 a0020c0018t0001g0196	47	368	0.1277	0	c.993 others(5): Show c.993+1G>T		CCDC7	ENSG00000216937.14	transcript	ENST00000639629.2	protein_coding	12/43					chr10	TogoVar
CCDC88A_chr2_55282842_55424856	55299838	C C	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA19055.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0139 a0001c0001t0004g0139	1	316	0.0032	0	c.482 others(6): Show c.4825+1G>A		CCDC88A	ENSG00000115355.18	transcript	ENST00000436346.7	protein_coding	29/32					chr2	TogoVar
CCL27_chr9_34656890_34667657	34662282	A A	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA18966.hp2 NA18966.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0009 a0004c0006t0001g0009	1	382	0.0026	0	c.203 others(5): Show c.203+2T>G		CCL27	ENSG00000213927.4	transcript	ENST00000259631.5	protein_coding	2/2					chr9	TogoVar
CCL4_chr17_36098827_36110614	36103982	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG01109.hp1 HG02809.hp2 HG01109.hp1 HG02809.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0014 a0004c0006t0001g0014	2	413	0.0048	0	c.76+ others(4): Show c.76+1G>A		CCL4	ENSG00000275302.2	transcript	ENST00000615863.2	protein_coding	1/2					chr17	TogoVar
CCNA2_chr4_121811444_121828883	121823415	C C	G G	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA19076.hp1 NA19076.hp1	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0001 a0007c0011t0001	a0007c0011t0001g0053 a0007c0011t0001g0053	1	414	0.0024	0	c.213 others(5): Show c.213+1G>C		CCNA2	ENSG00000145386.11	transcript	ENST00000274026.10	protein_coding	1/7					chr4	TogoVar
CCNB1IP1_chr14_20306370_20338279	20329173	C C	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02572.hp2 HG03209.hp1 HG02572.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0045 a0001c0001t0002g0045	2	418	0.0048	0	c.-23 others(6): Show c.-231+1G>A		CCNB1IP1	ENSG00000100814.19	transcript	ENST00000358932.9	protein_coding	2/6					chr14	TogoVar
CCNP_chr19_40217208_40231689	40223386	A A	G G	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02055.hp2 HG02055.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0030 a0004c0005t0001g0030	1	414	0.0024	0	c.672 others(5): Show c.672+2T>C		CCNP	ENSG00000105219.10	transcript	ENST00000430325.7	protein_coding	4/4					chr19	TogoVar
CCNP_chr19_40217208_40231689	40223387	C C	G G	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02055.hp2 HG02055.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0030 a0004c0005t0001g0030	1	414	0.0024	0	c.672 others(5): Show c.672+1G>C		CCNP	ENSG00000105219.10	transcript	ENST00000430325.7	protein_coding	4/4					chr19	TogoVar
CD160_chr1_145714499_145744288	145736135	G G	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	340	0.0029	0	c.538 others(5): Show c.538+1G>T		CD160	ENSG00000117281.16	transcript	ENST00000369288.7	protein_coding	5/5					chr1	TogoVar
CD200R1L_chr3_112810711_112851864	112837703	GAAGGTGC others(534): Show GAAGGTGCTGTAAGTTTTCTTCTTTTTAGCTTCTATTTTTGTGTGCTACT AAGAAATCTACATGTTTGCTTTTTGTTGTTGAATTAAATTGAATAAGTCG GTCCTTGCTTGGTCTTCAAGCAATAGTGTGCAGAGAGGTATCTGTTAAAA TTGCACACAGGACAAATGATCATGTAAATGTTTCTGCTGATGATCCAACC CTCCCATCAAACTGGTTATTAAGTAAGTGAGCATTTTACCTTCATTAAGA CGTATTCTCTAACTTTGTATTTCCAGTTGTGTCATCAGACAGGAATTATT ATCTGAGGCTAGAAAATATTTAAAGAAGAAATATGGAGAAAATTAAGAAC TTTTCTTTACTGAAATGGACTAGAATCCACTGATTTCATATAAGATAATC ACAGAAAACAACATTTCAATTCCTTAAATTAATTAATAATCACACCAAAA AAACCTCTACATAAAAGAAATCAGCAGTGAGACCATAACTAGATAAATGC ACGTATGTCAGGATTTTGACATTTCTTTTGTAGTTATGAATA	G G	splice_acceptor_variant others(5): Show splice_acceptor_variant splice_donor_variant 5_prime_UTR_truncation exon_loss_variant splice_region_variant intron_variant	HIGH	HG01106.hp1 HG02723.hp2 HG02976.hp2 others(4): Show HG01106.hp1 HG02723.hp2 HG02976.hp2 HG03225.hp1 HG03453.hp2 NA18522.hp1 NA19043.hp1	a0002 a0004 a0002 a0004	a0002c0003 a0004c0005 a0002c0003 a0004c0005	a0002c0003t0004 a0004c0005t0004 a0002c0003t0004 a0004c0005t0004	a0002c0003t0004g0136 a0004c0005t0004g0014 a0004c0005t0004g0135 a0002c0003t0004g0136 a0004c0005t0004g0014 a0004c0005t0004g0135	7	408	0.0172	-541	c.-86 others(15): Show c.-86-234_-18+238del		CD200R1L	ENSG00000206531.12	transcript	ENST00000488794.6	protein_coding	3/8					chr3	TogoVar
CD55_chr1_207316678_207365966	207321866	G G	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA19083.hp2 NA19083.hp2	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0001 a0003c0010t0001	a0003c0010t0001g0205 a0003c0010t0001g0205	1	356	0.0028	0	c.100 others(5): Show c.100+1G>T		CD55	ENSG00000196352.18	transcript	ENST00000367064.9	protein_coding	1/9					chr1	TogoVar
CD74_chr5_150396639_150417910	150406258	C C	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0112 a0001c0001t0003g0112	1	408	0.0025	0	c.441 others(5): Show c.441+1G>A		CD74	ENSG00000019582.17	transcript	ENST00000009530.13	protein_coding	4/8					chr5	TogoVar
CD8B2_chr2_106482364_106516095	106502564	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02818.hp1 HG03225.hp1 HG03471.hp1 others(2): Show HG02818.hp1 HG03225.hp1 HG03471.hp1 HG03540.hp1 NA19043.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0008 a0002c0003t0008	a0002c0003t0008g0030 a0002c0003t0008g0108 a0002c0003t0008g0109 a0002c0003t0008g0030 a0002c0003t0008g0108 a0002c0003t0008g0109	5	350	0.0143	0	c.583 others(5): Show c.583+1G>A		CD8B2	ENSG00000254126.8	transcript	ENST00000643224.2	protein_coding	4/5					chr2	TogoVar
CDC42BPA_chr1_226984865_227323492	227119803	C C	G G	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA18967.hp1 NA18967.hp1	a0016 a0016	a0016c0019 a0016c0019	a0016c0019t0002 a0016c0019t0002	a0016c0019t0002g0181 a0016c0019t0002g0181	1	352	0.0028	0	c.164 others(6): Show c.1647+1G>C		CDC42BPA	ENSG00000143776.20	transcript	ENST00000366766.8	protein_coding	12/36					chr1	TogoVar
CDH12_chr5_21745673_22858344	22853057	C C	G G	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0001 a0001c0002t0007g0001	1	60	0.0167	0	c.-52 others(6): Show c.-523+1G>C		CDH12	ENSG00000154162.15	transcript	ENST00000382254.6	protein_coding	1/14					chr5	TogoVar
CDH26_chr20_59953423_60019529	59985130	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0163 a0001c0001t0002g0163	1	288	0.0035	0	c.837 others(5): Show c.837+1G>A		CDH26	ENSG00000124215.17	transcript	ENST00000348616.9	protein_coding	7/17					chr20	TogoVar
CDHR1_chr10_84189537_84223694	84194817	T T	G G	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA19006.hp2 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	388	0.0026	0	c.55+ others(4): Show c.55+2T>G		CDHR1	ENSG00000148600.15	transcript	ENST00000623527.4	protein_coding	1/16					chr10	TogoVar
CDK10_chr16_89681689_89701354	89689325	G G	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	422	0.0024	0	c.160 others(5): Show c.160+1G>T		CDK10	ENSG00000185324.22	transcript	ENST00000353379.12	protein_coding	2/12					chr16	TogoVar
CDK11B_chr1_1630225_1664004	1658912	A A	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	446	0.0022	0	c.-14 others(5): Show c.-14+2T>G		CDK11B	ENSG00000248333.9	transcript	ENST00000341832.11	protein_coding	1/19					chr1	TogoVar
CDON_chr11_125951821_126067866	126021247	C C	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0059 a0001c0009t0059	a0001c0009t0059g0215 a0001c0009t0059g0215	1	334	0.0030	0	c.349 others(5): Show c.349+1G>T		CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding	3/19					chr11	TogoVar
CEACAM21_chr19_41571166_41591844	41585872	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02145.hp2 HG02258.hp2 HG02647.hp2 others(7): Show HG02145.hp2 HG02258.hp2 HG02647.hp2 HG02723.hp1 HG03041.hp2 HG03098.hp1 HG03225.hp1 HG03471.hp1 HG03486.hp1 NA20129.hp2	a0004 a0010 a0004 a0010	a0004c0004 a0010c0010 a0004c0004 a0010c0010	a0004c0004t0001 a0010c0010t0001 a0004c0004t0001 a0010c0010t0001	a0004c0004t0001g0019 a0004c0004t0001g0023 a0004c0004t0001g0047 others(3): Show a0004c0004t0001g0019 a0004c0004t0001g0023 a0004c0004t0001g0047 a0004c0004t0001g0084 a0004c0004t0001g0086 a0010c0010t0001g0060	10	393	0.0255	0	c.882 others(5): Show c.882+1G>A		CEACAM21	ENSG00000007129.18	transcript	ENST00000401445.4	protein_coding	6/6					chr19	TogoVar
CEACAM4_chr19_41614015_41632074	41626899	C C	G G	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00738.hp1 HG02258.hp1 HG02615.hp2 others(5): Show HG00738.hp1 HG02258.hp1 HG02615.hp2 HG02895.hp1 HG02922.hp1 HG02965.hp1 HG03540.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0018 a0001c0002t0001g0064 a0001c0002t0001g0065 others(3): Show a0001c0002t0001g0018 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0068	8	437	0.0183	0	c.64+ others(4): Show c.64+1G>C		CEACAM4	ENSG00000105352.11	transcript	ENST00000221954.7	protein_coding	1/6					chr19	TogoVar
CEBPZOS_chr2_37191496_37209743	37199820	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA18965.hp1 NA19083.hp1 NA19091.hp2 NA18965.hp1 NA19083.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0021 a0001c0001t0002 a0001c0001t0009 a0001c0001t0021	a0001c0001t0002g0019 a0001c0001t0009g0019 a0001c0001t0021g0019 a0001c0001t0002g0019 a0001c0001t0009g0019 a0001c0001t0021g0019	3	466	0.0064	0	c.115 others(5): Show c.115+1G>A		CEBPZOS	ENSG00000218739.10	transcript	ENST00000402297.6	protein_coding	2/4					chr2	TogoVar
CEP152_chr15_48732938_48816069	48741600	C C	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	342	0.0029	0	c.409 others(6): Show c.4093+1G>T		CEP152	ENSG00000103995.14	transcript	ENST00000380950.7	protein_coding	26/26					chr15	TogoVar
CEP164_chr11_117322854_117418266	117410895	G G	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02145.hp2 HG02145.hp2	a0004 a0004	a0004c0034 a0004c0034	a0004c0034t0007 a0004c0034t0007	a0004c0034t0007g0039 a0004c0034t0007g0039	1	390	0.0026	0	c.416 others(6): Show c.4163+1G>T		CEP164	ENSG00000110274.16	transcript	ENST00000278935.8	protein_coding	31/32					chr11	TogoVar
CEP57_chr11_95785498_95837693	95828028	G G	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG01981.hp2 HG01981.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0088 a0004c0009t0001g0088	1	340	0.0029	0	c.112 others(6): Show c.1127+1G>C		CEP57	ENSG00000166037.11	transcript	ENST00000325542.10	protein_coding	9/10					chr11	TogoVar
CES1_chr16_55797851_55838096	55819534	C C	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00438.hp1 HG02155.hp2 HG04115.hp2 others(1): Show HG00438.hp1 HG02155.hp2 HG04115.hp2 NA18999.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0064 a0002c0002t0002g0066 a0002c0002t0002g0069 others(1): Show a0002c0002t0002g0064 a0002c0002t0002g0066 a0002c0002t0002g0069 a0002c0002t0002g0070	4	87	0.0460	0	c.906 others(5): Show c.906+1G>T		CES1	ENSG00000198848.13	transcript	ENST00000360526.8	protein_coding	7/13					chr16	TogoVar
CES5A_chr16_55841154_55880373	55856375	A A	G G	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0072 a0001c0072	a0001c0072t0002 a0001c0072t0002	a0001c0072t0002g0328 a0001c0072t0002g0328	1	449	0.0022	0	c.112 others(6): Show c.1125+2T>C		CES5A	ENSG00000159398.16	transcript	ENST00000290567.14	protein_coding	9/12					chr16	TogoVar
CES5A_chr16_55841154_55880373	55871624	C C	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA18992.hp1 NA18994.hp1 NA19000.hp1 others(1): Show NA18992.hp1 NA18994.hp1 NA19000.hp1 NA19062.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0002c0003 a0004c0006 a0001c0002 a0002c0003 a0004c0006	a0001c0002t0005 a0002c0003t0007 a0004c0006t0005 a0001c0002t0005 a0002c0003t0007 a0004c0006t0005	a0001c0002t0005g0171 a0002c0003t0007g0027 a0004c0006t0005g0159 a0001c0002t0005g0171 a0002c0003t0007g0027 a0004c0006t0005g0159	4	449	0.0089	0	c.417 others(5): Show c.417+1G>A		CES5A	ENSG00000159398.16	transcript	ENST00000290567.14	protein_coding	3/12					chr16	TogoVar
CETP_chr16_56956950_56988845	56982238	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA18948.hp2 NA19081.hp2 NA18948.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	2	462	0.0043	0	c.132 others(6): Show c.1321+1G>A		CETP	ENSG00000087237.12	transcript	ENST00000200676.8	protein_coding	14/15					chr16	TogoVar
CFAP65_chr2_218997846_219046516	219021144	CTAGGTAC others(20): Show CTAGGTACCTCTGTGGGAAAGGAGAGAG	C C	frameshift_variant others(3): Show frameshift_variant splice_donor_variant splice_region_variant intron_variant	HIGH	NA19082.hp1 NA19082.hp1	a0023 a0023	a0023c0027 a0023c0027	a0023c0027t0001 a0023c0027t0001	a0023c0027t0001g0227 a0023c0027t0001g0227	1	322	0.0031	-27	c.324 others(38): Show c.3240_3259+7delCTCTCTCCTTTCCCACAGAGGTACCTA	p.Tyr others(6): Show p.Tyr1080fs	CFAP65	ENSG00000181378.14	transcript	ENST00000341552.10	protein_coding	19/35	3240/5778	1080/1925			chr2	TogoVar
CFAP74_chr1_1916957_2008786	1928769	CCGGGCCC others(6): Show CCGGGCCCCACGCA	C C	splice_donor_variant others(2): Show splice_donor_variant splice_region_variant intron_variant	HIGH	NA18947.hp1 NA18947.hp1	a0024 a0024	a0024c0039 a0024c0039	a0024c0039t0001 a0024c0039t0001	a0024c0039t0001g0063 a0024c0039t0001g0063	1	278	0.0036	-13	c.338 others(27): Show c.3387+2_3387+14delTGCGTGGGGCCCG		CFAP74	ENSG00000142609.20	transcript	ENST00000682832.2	protein_coding	27/38					chr1	TogoVar
CFAP92_chr3_128904873_128999076	128944223	GCACCTGG others(2064): Show GCACCTGGCCTGTTTTCACTTTTTGACTATTATACATAATGCTGCTGTGA ACATGTGTGTACAAGCTCTTGTGTGGACATATGTTTTCACTTCTCCTGGG CTTATAATAGATACAAGGCCAGCTTCTCCCGGTGCCTCTGGGCCCATCAG CACAGGAAGGCAGGTCTCCCAGAGGTGCAATCCCCTTCTGGGCAGACAGC CTCAACTCCGGGACTCCCCACTGCATCCAAGTGGGTCCTGGGGCATCTGA ACTCTGAGGACAGATGGGGGCCCTCCAGACTAAAGGACGGAGATCCGATC TACCCAAACTAGTATACTTGCAAATTGTGAAAGGAAGGGAGAGGTGTCAT GTCACCAAAACTAAAAAATGGAGGAACTGCAAAGGGCTACCCGCTGCAGC CCAGAATTGGACACTTTAATTATTCACTTCTAGTGTTCCCACTGAGTGGC CCCCAGGTACCCTGAAGGCCTTCAGGGAAGGGCAATTTCCTGCAGCCTAA GCAGCCCCTCCATCTTCAAAATGATCTTCCCTGGGGCAAGGTGAAATCTA ATACAGAATATTCTGCTCCTGTTTAGCCACAGTAGCCCTTGGCTCAGAAC CCTGAAGACAGGCCCCACTCTCCTGGACCCCTCAGTCATCTTAGATACTC CCGAATTCCTCCCTGGAACCAAAGCCAATCGAGTCTTCAAGTCCAATGAC TAAACCCTGGTAAGTACCTCACAATGAACCCCGAAAGGAGACTCACAGAC AAGGATGCTAAACCTAGGCTTGGCTCTGAAAGACCTCTCCACTCCCTCGG CATCCAGATGCCATCATTTTTATGTAAAATGTAAAACAAACCACCTACCA GCTTTGGTGGTTCTCCCACAGCTGCCTCAAGCCTTGGTCGGCCAGGCCTT CCAGGATGAAAAGGTGTGTCTTCCCGTCCAGCAGGTGGAAGCCAGTGAGC ACATCCAGGTGCTGCTGCTCCTGGACCCGCACACGCACCTTGAAGGCTGA CAGGATCTGCTGCAGGGTCCTGACAGGGTAGGAGTCCAGGCCGAGGGCCT TAGCGTTGATCATGGTGATGTCCTGCAGCAGGCTGTGGAGCAGGGAGACC TTCTTAAAGTCAAAGACGAAGATGATGCGGCCAAACTGGGAGCCCCCAAG GTCAGGATCAGCAGCTCTGGCCCCGGCCCTCAGTGGCACCGCGATGTCCA CTCGCAACTTGAGCTGGGAGTCAGCCTCTAGGTAGTTGCCCCTGGGCATT GGGCCGTGCTGGTGGCCATCTCTGGGGACCCCAAGCCCCACAACCTTCCT TCTCCTGCTGTCCTGGCCGCAGTGTGTGGGCTGAACCTCACAGCTGTGGA TGGGGACGGCCAGATTCAAGTACTTGTGGCCAAGGAGGAGGTCAGCAAAA CTGACCTGGGCGATGCCATAAGGGTACCACATCTTGTTCTGGGACTCAAA GGGGTTGTTCTCTGTCTCTCTGGGAGAGATGAGGGCCTGGAAGTTGAGGT ATGAATCCAGAGGGTCCTCCCCAAACAGCACGGGCTTCTGAGAACACTCC TCTGACTTGCGGTCCCGGTCGTGAACTTCCACCACCATGGGGGGGCCCTC CAGGTATTCCCTTAGGTCACTGGGGTGCAGTGCCCCAAGGAAGATGACGT TGATGTCCTGGAAATAAACGTGGGTTCCATGGGGCTCCCCCTTGGTCTTG TGAACTGGAGTCTTATGGAACTGGTACTTGCAGTACACAGGCATGCACAG CCTCTACGAGAGAGCAGGGCCACAGCAGGTCACCCAGCCACAAGGACAGT CACTCAGCCCCAGCATGAGGAGCTCAAATCCCAGTGCCAGGCTCATTGCC TGTCCCTGTAGCCCAAGTTTTCTCATCCACAAAATATCCATAAGAGACAC TACTGTGCAAGGTCATTACTAGGACTGCAGACATCATGCATGTGAACGCA CCAGGATGGCGACTGGCATGAAACAAGGACTCAAAAAGCATTCGTTACTT ATTTTCCTCCCAAAATGTGAGTGCCATGAAGATAGGCCATGTGTCCTTTT TCATACCTGTACTTCTAGTTCC	G G	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG03239.hp2 HG03239.hp2	a0009 a0009	a0009c0026 a0009c0026	a0009c0026t0001 a0009c0026t0001	a0009c0026t0001g0296 a0009c0026t0001g0296	1	342	0.0029	-2071	c.135 others(17): Show c.1354-319_2258+847del		CFAP92	ENSG00000114656.13	transcript	ENST00000645291.3	protein_coding	10/16					chr3	TogoVar
CFC1B_chr2_130516222_130533603	130522906	T T	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02886.hp2 HG02886.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0008 a0003c0003t0005g0008	1	12	0.0833	0	c.362 others(5): Show c.362+2T>C		CFC1B	ENSG00000152093.8	transcript	ENST00000281882.8	protein_coding	4/5					chr2	TogoVar
CHCHD4_chr3_14107077_14129870	14124654	C C	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	416	0.0024	0	c.22+ others(4): Show c.22+1G>A		CHCHD4	ENSG00000163528.13	transcript	ENST00000396914.4	protein_coding	1/2					chr3	TogoVar
CHIT1_chr1_203211079_203234673	203217736	TACTC TACTC	T T	frameshift_variant others(3): Show frameshift_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG01891.hp1 HG02258.hp2 HG02280.hp2 others(7): Show HG01891.hp1 HG02258.hp2 HG02280.hp2 HG02970.hp1 HG02970.hp2 HG03453.hp2 NA19030.hp1 NA20300.hp1 NA21309.hp1 NA21309.hp2	a0007 a0007	a0007c0007 a0007c0023 a0007c0007 a0007c0023	a0007c0007t0002 a0007c0023t0002 a0007c0007t0002 a0007c0023t0002	a0007c0007t0002g0021 a0007c0007t0002g0023 a0007c0007t0002g0073 others(2): Show a0007c0007t0002g0021 a0007c0007t0002g0023 a0007c0007t0002g0073 a0007c0007t0002g0092 a0007c0023t0002g0059	10	484	0.0207	-4	c.115 others(15): Show c.1155_1156+2delGAGT	p.Leu others(5): Show p.Leu387fs	CHIT1	ENSG00000133063.16	transcript	ENST00000367229.6	protein_coding	10/11	1155/1401	385/466			chr1	TogoVar
CHRNA10_chr11_3660587_3676384	3669794	A A	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA18956.hp2 NA18989.hp2 NA18956.hp2 NA18989.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0019 a0001c0001 a0007c0019	a0001c0001t0001 a0007c0019t0001 a0001c0001t0001 a0007c0019t0001	a0001c0001t0001g0047 a0007c0019t0001g0054 a0001c0001t0001g0047 a0007c0019t0001g0054	2	450	0.0044	0	c.207 others(5): Show c.207+2T>G		CHRNA10	ENSG00000129749.3	transcript	ENST00000250699.2	protein_coding	2/4					chr11	TogoVar
CHRNB3_chr8_42692366_42742407	42697599	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	1	282	0.0036	0	c.52+ others(4): Show c.52+1G>A		CHRNB3	ENSG00000147432.7	transcript	ENST00000289957.3	protein_coding	1/5					chr8	TogoVar
CHST12_chr7_2398611_2453484	2403653	GCGCGAGG others(7): Show GCGCGAGGTGAGGGT	G G	splice_donor_variant others(3): Show splice_donor_variant splice_region_variant 5_prime_UTR_variant intron_variant	HIGH	HG01106.hp1 HG02015.hp1 HG02647.hp1 others(5): Show HG01106.hp1 HG02015.hp1 HG02647.hp1 HG02698.hp1 HG03710.hp2 HG03942.hp2 NA19043.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0290 a0001c0001t0291 a0001c0001t0292 others(5): Show a0001c0001t0290 a0001c0001t0291 a0001c0001t0292 a0001c0001t0293 a0001c0001t0294 a0001c0001t0295 a0001c0001t0296 a0001c0001t0297	a0001c0001t0290g0132 a0001c0001t0291g0220 a0001c0001t0292g0217 others(5): Show a0001c0001t0290g0132 a0001c0001t0291g0220 a0001c0001t0292g0217 a0001c0001t0293g0109 a0001c0001t0294g0134 a0001c0001t0295g0136 a0001c0001t0296g0147 a0001c0001t0297g0052	8	344	0.0233	-14	c.-84 others(23): Show c.-84_-78+7delTCGCGAGGTGAGGG		CHST12	ENSG00000136213.10	transcript	ENST00000618655.2	protein_coding	1/2			28960	INFO_REALIGN_3_PRIME	chr7	TogoVar
CIB4_chr2_26576205_26646366	26627767	CACCCCTC others(2539): Show CACCCCTCACCCTTTCTCATTATTTTGTCTTCTCCACTCCTGCCTCTATT TCAAGACCCAGCTTTGTGCATTTTCCTCTGTCTCTGTCTGCCCTACAGAT AGGCCTGTCACTTAGGAGGGGCCGTGCAGCCGTGGCTTGAATGACATGTC TGTGCCCCCTCCATGTCCCTTCCTCAGGAGCCAGCCTCCTCCTCCCTGGT ATCCCCAGGCCTCTTCCAAGTGGTGGCCACAGTTCTCAGAGCCCAGTTCG TTCCAAACAGAAACGAAGATGGGCTCTCATTGAACAATGACAAACTGAAG TCATTATTCTGCCAAGAACCGAATGAAAAATAGAGAAGCCTGACGTAGCC ATGATTTGTTAACGTGACATTTCCTCTCAATGCAATGCACAAATTTTAAT TAAAATCTCAGGAGTGATTTTGGAGTCCTTTATTGTGTGCCTCTAGGCTC TTCCAGGCTGCCCTGGGGGAAGGGCAGGGCCTCTTCATAACAGGGATAAA GGCTCAGATAATTGTCCCTAAAGGATTGGGAGGTGGGGGGAGCAGGGACA GCTCAGGCTAGCACTGCCTGTGGGGCCAGGAGTCTTAGAGTGCACATGGT CACTCCCAGCCTCCCCCCACTGCTCTACCCATTTTACAGGTGAGGAAACC AAGACCAGGGAAGGTTTGCCAAGGACCCATCCACAGCAAGGGTGTGTGTT TGTGGGGGGTGGGAGTGTGTTCTAGGTGGTTGGAAGGTGAGATTCAGCCC AGGACAAGTTGTGGAAACTGGGAGGGAATGAGCATTCAACCAGCCTTCTG TGTAACAGGAGCCTCCAGCCCAGGCAGCGCTGGCTGAATTGAGGGCGAGT TGAGGAGAGAGAGGATTGCAAGAGCAGAAATGCAAGCACCCTTCTTTCCT GCAGCCACTCCTGGAGCTGGGAAAAAGGCAGGTTGGGAGGACAGTCTCTG GGCCCCGAGCCCTGCTCCTCCTGTCTTCTCAGAGAAGAACCTGAGAAAAT TCTCAGTCCCTCTAGAAAAGCCCCAGTCCATTGAGGCAGCCTGAGGAGAA GAGAAGGGCTGAGGGACTGGGCCGATGGCTAGGGTGGCACCCTGGCTTCC TCAAGGCCTAATGGTCCTGCAGGGGATCCTGGCCTAGGGTCACTTGCCCT AGTTTGGGGCACAACAGACAGCAGAGGAAACTGGCTGGTGTGGGGTCACT GGGGTGAGGGTTAAGTAAGGAATGAGCAAACAGAGTGGGGTGGACTGCAA GCTGAAGCCCATCTAAAGACCCATAGGCTGGCCTCGGAGGCTGAGCAGCA GGGCCAGTGAGCACCTCCAGATGGGGCCGCCACCTCCCACGGTAAGGCCT GGAGCAGGTCTCATGCCCCATCTGCCCCTGGCCCCACCTGAGAAGTAGTG ACTGTTATCACAGGGTCCTGCTCTAGGACCGAGGTGAGGATGGAGGGAGG CCAGATGCATGCAGGAAGTGTTTGGGAGCCATGTCCTTGCACTCCTCTGC CTGGAGGATCAGGAGCCCCTTGGAGTGAGGTGACCATCCCACAGCACGGA GTGCCCACCTCACCCCACCCCTCCCAGCACCCATCAGCCCATCAGCAGGT CCCACTGATGCTGCCCTTGCCCCACCCACCATCCTGGACTCACCCGCAGA GCTGGCAGGGAGCTGACCTGGTCCATGGTGAGCGTTGCCTCCTTGTAGTA CTTCCCAGGAGGGCAGAGCTTCAGGAAGGTGTCATGGATGCTGAAAAGAG AGGCATGAAGACCGTGTGGCCGGGGAAAGGAGGCCAGCACTGTGTGGCCG GGGAAAGGAGGCCAGCAAGCCTGTCTCCTGCTGCAAGGGGTGGGGGTGTC TCTTTGAGGAAGGAGACTTGGGGTTGGCTGACACAGAAAAGGCAGTAATC AATAATAATAAAGCGCAGTAATAAATATGTCTTCTAGAAACATCCCTGGA CCCTCCAGTGTGCCAGGCACACCATAGAGGATGCAGAGATGAGCCAGGTG AGAGGAAAGTTAGGCGAATATGCCCTGTAGCGAGCAGCACACTCTACGAG GGTTCATCATAGAATGTCAGAACTGAAGGGGCTTATGTCCAGTCCCTCGG TTACGGATGGGGAAGCCAGTAGGACCTTGGGGAAGCCAGGGTCCCCACCT CTGGCCATCTGCCAATTTCCATCCTCAACCCAAGAAAAGAGGTCACTTCG TGGGTCTGAGTGAGCCGGGATTAGAGCCCGGCTGCCTGCAGCCAGCAAAC CACCAGCCTTGCTAGGCCACTTGACAGCAAACTTGGTTGCAGCAGATCGT GGACTGACTGGTCTTCCTAATCATCCCTGTCAGCGATGTCTCTTGTCTAT AGGATCCCATCCCAGTCAAGAGGATTTTGCTTATAAGCTACAGGCAGAGG GTGAAATGGCCGTGTGACCCCTGAGAGTAAGAGGGCGGGAGGGAGCTCTG CCTCAGGCTAAGAGAGGATGAGCCCTCATTGCCTGTCTCTCTCACCCTAT CCTGAACCTGGGTCCCTGTCCACCAGCAAGCTCTTAGGCCTACAGGT	C C	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG02083.hp2 HG02083.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0002 a0004c0008t0002	a0004c0008t0002g0151 a0004c0008t0002g0151	1	344	0.0029	-2546	c.90- others(15): Show c.90-807_186+1642del		CIB4	ENSG00000157884.11	transcript	ENST00000288861.5	protein_coding	3/7					chr2	TogoVar
CIDEB_chr14_24300187_24312977	24306373	C C	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	414	0.0024	0	c.336 others(5): Show c.336+1G>A		CIDEB	ENSG00000136305.12	transcript	ENST00000554411.6	protein_coding	3/4					chr14	TogoVar

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Search Results (Total: 1035 hits)