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
BSG_chr19_567596_588493	570801	G G	GGGGGAGG others(20): Show GGGGGAGGGGCGGGTGGGGGTGGAGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0139 a0001c0002t0001g0139	1	306	0.0033	27	c.-18 others(38): Show c.-1834_-1833insGGGGAGGGGCGGGTGGGGGTGGAGGGT	BSG	ENSG00000172270.22	transcript	ENST00000333511.9	protein_coding		1794		chr19	TogoVar
BSND_chr1_54993933_55022172	54996837	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0060 a0001c0001t0060	a0001c0001t0060g0012 a0001c0001t0060g0012	1	448	0.0022	27	c.-23 others(38): Show c.-2350_-2349insTTTTTTTTTTTTTTTTTTTTTTTTTTT	BSND	ENSG00000162399.9	transcript	ENST00000651561.1	protein_coding		2095		chr1	TogoVar
BSPH1_chr19_47963046_47997170	47969684	G G	GAGAGAGA others(20): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0077 a0002c0002t0001g0077	1	444	0.0023	27	c.3- others(42): Show c.3-1476_*3-1475insTCTCTCTCTCTCTCTCTCTCTCTCTCT	BSPH1	ENSG00000188334.3	transcript	ENST00000344839.3	protein_coding	5/5			chr19	TogoVar
BTAF1_chr10_91918770_92036437	92012228	C C	CCTCCCCT others(20): Show CCTCCCCTCCCCCTCTATCTCCTCCCCT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02055.hp1 HG02486.hp1 others(9): Show HG01081.hp2 HG02055.hp1 HG02486.hp1 HG02622.hp1 HG02647.hp1 HG02717.hp1 HG02970.hp1 HG03098.hp2 HG03209.hp1 HG03453.hp2 NA18522.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007	a0001c0001t0002g0291 a0001c0001t0004g0314 a0001c0001t0004g0315 others(9): Show a0001c0001t0002g0291 a0001c0001t0004g0314 a0001c0001t0004g0315 a0001c0001t0004g0316 a0001c0001t0004g0317 a0001c0001t0004g0318 a0001c0001t0004g0319 a0001c0001t0004g0320 a0001c0001t0004g0324 a0001c0001t0007g0321 a0001c0001t0007g0322 a0001c0001t0007g0323	12	330	0.0364	27	c.431 others(44): Show c.4311+824_4311+825insCTCTATCTCCTCCCCTCTCCCCTCCCC	BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding	30/37		INFO_REALIGN_3_PRIME	chr10	TogoVar
BTAF1_chr10_91918770_92036437	92012233	C C	CCTCCCCT others(20): Show CCTCCCCTCCCCCTCTATCTCCTCCCCT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0250 a0001c0001t0002g0250	1	330	0.0030	27	c.431 others(44): Show c.4311+830_4311+831insTCTATCTCCTCCCCTCTCCCCTCCCCC	BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding	30/37		INFO_REALIGN_3_PRIME	chr10	TogoVar
BTAF1_chr10_91918770_92036437	92032009	C C	CTTCTTTT others(20): Show CTTCTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18975.hp2 NA19065.hp1 NA18975.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0307 a0001c0001t0003g0309 a0001c0001t0003g0307 a0001c0001t0003g0309	2	330	0.0061	27	c.30 others(38): Show c.3076_*3077insTTCTTTTTTTTTTTTTTTTTTTTTTTT	BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding		573		chr10	TogoVar
BTBD17_chr17_74351416_74366868	74355642	G G	GACGGGGC others(20): Show GACGGGGCTCCTGGCCCACGTGTGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01884.hp1 HG02451.hp2 others(10): Show HG01243.hp1 HG01884.hp1 HG02451.hp2 HG02559.hp2 HG02970.hp1 HG03225.hp2 HG03486.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0021 a0001c0001t0001g0072 a0001c0001t0001g0007 a0001c0001t0001g0021 a0001c0001t0001g0072	13	444	0.0293	27	c.98 others(37): Show c.988_*1014dupGCCCCACACGTGGGCCAGGAGCCCCGT	BTBD17	ENSG00000204347.4	transcript	ENST00000375366.4	protein_coding		773		chr17	TogoVar
BTBD19_chr1_44803523_44820585	44816480	T T	TGTATATT others(20): Show TGTATATTATATATACACATAGATGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 NA18986.hp2 NA19087.hp1 HG02622.hp1 NA18986.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0019 a0001c0001t0003 a0001c0001t0019	a0001c0001t0003g0001 a0001c0001t0019g0072 a0001c0001t0003g0001 a0001c0001t0019g0072	3	436	0.0069	27	c.27 others(38): Show c.2708_*2709insGTATATTATATATACACATAGATGTGA	BTBD19	ENSG00000222009.9	transcript	ENST00000450269.6	protein_coding		896		chr1	TogoVar
BTBD19_chr1_44803523_44820585	44816932	G G	GTGTGTGT others(20): Show GTGTGTGTATATTATATATACACATAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG00597.hp1 others(14): Show HG00099.hp1 HG00323.hp2 HG00597.hp1 HG01256.hp1 HG01978.hp2 HG02451.hp1 HG03654.hp1 HG04204.hp1 NA18522.hp1 NA18947.hp2 NA18951.hp2 NA18953.hp2 NA18955.hp1 NA18960.hp2 NA18988.hp1 NA19058.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(4): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0063 a0001c0001t0064 a0001c0001t0083	a0001c0001t0003g0001 a0001c0001t0003g0010 a0001c0001t0003g0020 others(11): Show a0001c0001t0003g0001 a0001c0001t0003g0010 a0001c0001t0003g0020 a0001c0001t0004g0001 a0001c0001t0004g0010 a0001c0001t0004g0020 a0001c0001t0005g0001 a0001c0001t0006g0020 a0001c0001t0006g0026 a0001c0001t0006g0036 a0001c0001t0006g0056 a0001c0001t0063g0001 a0001c0001t0064g0069 a0001c0001t0083g0001	17	436	0.0390	27	c.31 others(38): Show c.3160_*3161insTGTGTGTATATTATATATACACATAGA	BTBD19	ENSG00000222009.9	transcript	ENST00000450269.6	protein_coding		1348		chr1	TogoVar
BTBD1_chr15_83011423_83072252	83021742	A A	AAATAATA others(20): Show AAATAATAATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0063 a0001c0001t0005g0063	1	328	0.0031	27	c.105 others(45): Show c.1056-1007_1056-981dupATTATTATTATTATTATTATTATTATT	BTBD1	ENSG00000064726.10	transcript	ENST00000261721.9	protein_coding	5/7			chr15	TogoVar
BTBD1_chr15_83011423_83072252	83032969	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	328	0.0031	27	c.863 others(44): Show c.863-2642_863-2641insTTTTTTTTTTTTTTTTTTTTTTTTTTT	BTBD1	ENSG00000064726.10	transcript	ENST00000261721.9	protein_coding	4/7			chr15	TogoVar
BTBD9_chr6_38163451_38644929	38374280	A A	AAGTATAT others(20): Show AAGTATATATATATATACATATATATAT	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0118 a0001c0001t0118	a0001c0001t0118g0049 a0001c0001t0118g0049	1	224	0.0045	27	c.115 others(48): Show c.1155-29188_1155-29187insATATATATATGTATATATATATAT ACT	BTBD9	ENSG00000183826.19	transcript	ENST00000481247.6	protein_coding	6/10			chr6	TogoVar
BTBD9_chr6_38163451_38644929	38417801	A A	AGAGAGAG others(20): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0131 a0001c0001t0131	a0001c0001t0131g0107 a0001c0001t0131g0107	1	224	0.0045	27	c.115 others(48): Show c.1155-72709_1155-72708insCTCTCTCTCTCTCTCTCTCTCTCT CTC	BTBD9	ENSG00000183826.19	transcript	ENST00000481247.6	protein_coding	6/10			chr6	TogoVar
BTNL9_chr5_181035266_181066521	181048797	T T	TATATTAT others(20): Show TATATTATATAATTATATTAGTTATATA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG03130.hp2 HG00738.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0009t0008 a0001c0001t0001 a0001c0009t0008	a0001c0001t0001g0216 a0001c0009t0008g0116 a0001c0001t0001g0216 a0001c0009t0008g0116	2	390	0.0051	27	c.454 others(42): Show c.454+585_454+611dupTATATAATTATATTAGTTATATAATAT	BTNL9	ENSG00000165810.17	transcript	ENST00000327705.14	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
BTRC_chr10_101349165_101562313	101387528	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0239 a0001c0001t0004g0239	1	266	0.0038	27	c.48+ others(44): Show c.48+33318_48+33319insTTTTTTTTTTTTTTTTTTTTTTTTTTT	BTRC	ENSG00000166167.18	transcript	ENST00000370187.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
BTRC_chr10_101349165_101562313	101455983	A A	ACACACAC others(20): Show ACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0011 a0001c0001t0007g0011	1	266	0.0038	27	c.157 others(44): Show c.157-5998_157-5997insCACACACACACACACACACACACACAC	BTRC	ENSG00000166167.18	transcript	ENST00000370187.8	protein_coding	2/14			chr10	TogoVar
BTRC_chr10_101349165_101562313	101456018	A A	ACACACAC others(20): Show ACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0223 a0001c0001t0004g0223	1	266	0.0038	27	c.157 others(44): Show c.157-5963_157-5962insCACACACACACACACACACACACACAC	BTRC	ENSG00000166167.18	transcript	ENST00000370187.8	protein_coding	2/14			chr10	TogoVar
BUB3_chr10_123149402_123175467	123156753	G G	GTTTTTTT others(20): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp1 NA18961.hp2 NA19003.hp1 others(2): Show HG00609.hp1 NA18961.hp2 NA19003.hp1 NA19004.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0011 a0001c0001t0005g0031 a0001c0001t0005g0011 a0001c0001t0005g0031	5	418	0.0120	27	c.266 others(42): Show c.266-965_266-964insTTTTTTTTTTTTTTTTTTTTTTTTTTT	BUB3	ENSG00000154473.18	transcript	ENST00000368865.9	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
BVES_chr6_105091822_105142157	105109763	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG01168.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0173 a0001c0001t0012g0174 a0001c0001t0012g0173 a0001c0001t0012g0174	2	232	0.0086	27	c.958 others(44): Show c.958+5922_958+5923insTTTTTTTTTTTTTTTTTTTTTTTTTTT	BVES	ENSG00000112276.14	transcript	ENST00000314641.10	protein_coding	7/7			chr6	TogoVar
BZW2_chr7_16641181_16711517	16709907	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0335 a0001c0001t0002g0335	1	418	0.0024	27	c.38 others(38): Show c.3819_*3820insAAAAAAAAAAAAAAAAAAAAAAAAAAA	BZW2	ENSG00000136261.16	transcript	ENST00000258761.8	protein_coding		3391		chr7	TogoVar
C10orf67_chr10_23197696_23349797	23323894	A A	AATATATA others(20): Show AATATATATATATATATATATAATATAT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0324 a0001c0001t0001g0324	1	326	0.0031	27	c.328 others(44): Show c.328-1358_328-1357insATATATTATATATATATATATATATAT	C10orf67	ENSG00000179133.15	transcript	ENST00000636213.3	protein_coding	2/15			chr10	TogoVar
C10orf82_chr10_116658696_116674966	116658988	A A	ACAAAGCA others(20): Show ACAAAGCACAGACCGGTATGAGGACCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	466	0.0022	27	c.49 others(38): Show c.4917_*4918insGGGGTCCTCATACCGGTCTGTGCTTTG	C10orf82	ENSG00000165863.17	transcript	ENST00000588184.2	protein_coding		4707		chr10	TogoVar
C10orf90_chr10_126419997_126675693	126532842	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01167.hp2 HG01243.hp1 others(5): Show HG00621.hp2 HG01167.hp2 HG01243.hp1 HG02074.hp1 HG02080.hp2 HG02257.hp2 HG02630.hp1 HG03225.hp1	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0007	a0001c0001 a0003c0002 a0005c0006 others(2): Show a0001c0001 a0003c0002 a0005c0006 a0005c0021 a0007c0016	a0001c0001t0001 a0003c0002t0001 a0005c0006t0001 others(3): Show a0001c0001t0001 a0003c0002t0001 a0005c0006t0001 a0005c0006t0002 a0005c0021t0001 a0007c0016t0001	a0001c0001t0001g0137 a0003c0002t0001g0031 a0003c0002t0001g0051 others(5): Show a0001c0001t0001g0137 a0003c0002t0001g0031 a0003c0002t0001g0051 a0003c0002t0001g0208 a0005c0006t0001g0027 a0005c0006t0002g0197 a0005c0021t0001g0171 a0007c0016t0001g0116	8	218	0.0367	27	c.314 others(46): Show c.314-18904_314-18903insTTTTTTTTTTTTTTTTTTTTTTTTTT T	C10orf90	ENSG00000154493.20	transcript	ENST00000488181.3	protein_coding	2/9			chr10	TogoVar
C10orf90_chr10_126419997_126675693	126565147	A A	ATATGTAA others(20): Show ATATGTAATATAATATTATATTACATAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02809.hp2 HG03195.hp2 others(2): Show HG02615.hp1 HG02809.hp2 HG03195.hp2 NA18998.hp2 NA20300.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0004 a0002c0012 others(1): Show a0001c0001 a0002c0004 a0002c0012 a0004c0005	a0001c0001t0001 a0001c0001t0006 a0002c0004t0001 others(2): Show a0001c0001t0001 a0001c0001t0006 a0002c0004t0001 a0002c0012t0002 a0004c0005t0001	a0001c0001t0001g0020 a0001c0001t0006g0155 a0002c0004t0001g0113 others(2): Show a0001c0001t0001g0020 a0001c0001t0006g0155 a0002c0004t0001g0113 a0002c0012t0002g0161 a0004c0005t0001g0057	5	218	0.0229	27	c.314 others(46): Show c.314-51209_314-51208insATATGTAATATAATATTATATTACAT A	C10orf90	ENSG00000154493.20	transcript	ENST00000488181.3	protein_coding	2/9			chr10	TogoVar
C10orf90_chr10_126419997_126675693	126565231	T T	TTATGTAA others(20): Show TTATGTAATATAATATTATATTACATAA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0003 a0006c0007t0003	a0006c0007t0003g0146 a0006c0007t0003g0146	1	218	0.0046	27	c.314 others(46): Show c.314-51293_314-51292insTTATGTAATATAATATTATATTACAT A	C10orf90	ENSG00000154493.20	transcript	ENST00000488181.3	protein_coding	2/9			chr10	TogoVar
C11orf65_chr11_108377755_108472529	108408674	T T	TAAATAAA others(20): Show TAAATAAAATAAAAAAAATAAAAAAATA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02647.hp2 HG02896.hp1 others(4): Show HG02055.hp1 HG02647.hp2 HG02896.hp1 HG02897.hp2 HG03225.hp1 HG03486.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0029 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032	7	330	0.0212	27	c.175 others(44): Show c.175-1526_175-1525insTATTTTTTTATTTTTTTTATTTTATTT	C11orf65	ENSG00000166323.13	transcript	ENST00000393084.6	protein_coding	3/8			chr11	TogoVar
C12orf40_chr12_39621183_39726914	39683280	A A	AGAATGGC others(20): Show AGAATGGCTTCCTATTATATAACATTGT	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0301 a0001c0001t0001g0301	1	360	0.0028	27	c.121 others(44): Show c.1217-133_1217-107dupAATGGCTTCCTATTATATAACATTGTG	C12orf40	ENSG00000180116.15	transcript	ENST00000324616.9	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
C12orf56_chr12_64259762_64395758	64313274	A A	AAAGAAAG others(20): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0062 a0002c0002t0003g0062	1	312	0.0032	27	c.895 others(42): Show c.895-523_895-522insCTTTCTTTCTTTCTTTCTTTCTTTCTT	C12orf56	ENSG00000185306.13	transcript	ENST00000543942.7	protein_coding	4/12			chr12	TogoVar
C12orf56_chr12_64259762_64395758	64358482	A A	AATAATCA others(20): Show AATAATCATCATCATCATCATCATCATC	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0293 a0002c0002t0001g0293	1	312	0.0032	27	c.253 others(44): Show c.253-5427_253-5426insGATGATGATGATGATGATGATGATTAT	C12orf56	ENSG00000185306.13	transcript	ENST00000543942.7	protein_coding	1/12			chr12	TogoVar
C12orf56_chr12_64259762_64395758	64366356	T T	TATACAGT others(20): Show TATACAGTTTATATATATTATATATAAC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00673.hp1 others(3): Show HG00408.hp1 HG00423.hp1 HG00673.hp1 HG03486.hp2 HG03927.hp2 NA19085.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0009 a0001c0001 a0002c0002 a0002c0009	a0001c0001t0016 a0002c0002t0001 a0002c0002t0003 others(1): Show a0001c0001t0016 a0002c0002t0001 a0002c0002t0003 a0002c0009t0012	a0001c0001t0016g0166 a0002c0002t0001g0153 a0002c0002t0001g0159 others(3): Show a0001c0001t0016g0166 a0002c0002t0001g0153 a0002c0002t0001g0159 a0002c0002t0001g0165 a0002c0002t0003g0151 a0002c0009t0012g0168	6	312	0.0192	27	c.253 others(46): Show c.253-13327_253-13301dupGTTATATATAATATATATAAACTGTA T	C12orf56	ENSG00000185306.13	transcript	ENST00000543942.7	protein_coding	1/12			chr12	TogoVar
C12orf56_chr12_64259762_64395758	64367180	T T	TTATATAT others(20): Show TTATATATAATATACAGATTATATATTA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0208 a0002c0002t0003g0208	1	312	0.0032	27	c.253 others(46): Show c.253-14125_253-14124insTAATATATAATCTGTATATTATATAT A	C12orf56	ENSG00000185306.13	transcript	ENST00000543942.7	protein_coding	1/12			chr12	TogoVar
C14orf39_chr14_60430956_60491063	60433570	T T	TATTATAG others(20): Show TATTATAGCTATATAATAATGTTATATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01943.hp1 HG02027.hp2 others(5): Show HG01243.hp2 HG01943.hp1 HG02027.hp2 HG02486.hp1 HG02622.hp1 HG03209.hp2 NA18994.hp2 NA19043.hp1	a0001 a0003 a0008 a0001 a0003 a0008	a0001c0001 a0003c0004 a0008c0008 a0001c0001 a0003c0004 a0008c0008	a0001c0001t0001 a0003c0004t0001 a0003c0004t0002 others(2): Show a0001c0001t0001 a0003c0004t0001 a0003c0004t0002 a0003c0004t0005 a0008c0008t0005	a0001c0001t0001g0030 a0001c0001t0001g0070 a0001c0001t0001g0083 others(5): Show a0001c0001t0001g0030 a0001c0001t0001g0070 a0001c0001t0001g0083 a0001c0001t0001g0139 a0003c0004t0001g0153 a0003c0004t0002g0168 a0003c0004t0005g0164 a0008c0008t0005g0163	8	294	0.0272	27	c.32 others(38): Show c.3248_*3274dupGATATAACATTATTATATAGCTATAAT	C14orf39	ENSG00000179008.9	transcript	ENST00000321731.8	protein_coding		2385		chr14	TogoVar
C14orf39_chr14_60430956_60491063	60433797	T T	TATAATGT others(20): Show TATAATGTTATATCATTATAGCTATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG03098.hp2 HG02615.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0123 a0001c0001t0001g0025 a0001c0001t0001g0123	2	294	0.0068	27	c.30 others(38): Show c.3021_*3047dupTATATAGCTATAATGATATAACATTAT	C14orf39	ENSG00000179008.9	transcript	ENST00000321731.8	protein_coding		2158		chr14	TogoVar
C14orf39_chr14_60430956_60491063	60433797	T T	TATAATGT others(20): Show TATAATGTTATATCATTATAGTTATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0131 a0002c0002t0001g0131	1	294	0.0034	27	c.30 others(38): Show c.3047_*3048insTATATAACTATAATGATATAACATTAT	C14orf39	ENSG00000179008.9	transcript	ENST00000321731.8	protein_coding		2158		chr14	TogoVar
C14orf39_chr14_60430956_60491063	60434319	A A	AATAATGT others(20): Show AATAATGTTATATTATTATAGTTATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	294	0.0034	27	c.24 others(38): Show c.2499_*2525dupAATATAACTATAATAATATAACATTAT	C14orf39	ENSG00000179008.9	transcript	ENST00000321731.8	protein_coding		1636		chr14	TogoVar
C14orf39_chr14_60430956_60491063	60434698	T T	TTATAGTT others(20): Show TTATAGTTATATATTATAGTTATAATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00408.hp2 others(90): Show HG00099.hp1 HG00140.hp1 HG00408.hp2 HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00621.hp1 HG00741.hp2 HG01074.hp1 HG01109.hp2 HG01175.hp2 HG01257.hp2 HG01258.hp2 HG01943.hp2 HG02027.hp1 HG02040.hp1 HG02071.hp2 HG02083.hp1 HG02165.hp2 HG02523.hp2 HG02602.hp1 HG02615.hp2 HG02738.hp1 HG02895.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp2 HG03130.hp2 HG03486.hp2 HG03490.hp1 HG03492.hp1 HG03516.hp2 HG03669.hp2 HG03704.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 NA18612.hp2 NA18747.hp2 NA18940.hp1 NA18942.hp2 NA18944.hp1 NA18947.hp2 NA18952.hp2 NA18954.hp1 NA18955.hp1 NA18957.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp1 NA18963.hp1 NA18964.hp2 NA18967.hp2 NA18969.hp2 NA18971.hp2 NA18972.hp1 NA18973.hp2 NA18974.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18988.hp2 NA18991.hp1 NA18994.hp1 NA18997.hp1 NA18998.hp1 NA18999.hp2 NA19001.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp2 NA19006.hp1 NA19009.hp2 NA19010.hp2 NA19054.hp1 NA19058.hp1 NA19060.hp1 NA19063.hp2 NA19068.hp2 NA19075.hp2 NA19078.hp2 NA19079.hp2 NA19082.hp2 NA19084.hp1 NA19085.hp1 NA20805.hp1	a0002 a0003 a0005 others(1): Show a0002 a0003 a0005 a0012	a0002c0002 a0003c0004 a0003c0006 others(2): Show a0002c0002 a0003c0004 a0003c0006 a0005c0005 a0012c0013	a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 others(4): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 a0003c0004t0003 a0003c0006t0003 a0005c0005t0001 a0012c0013t0001	a0002c0002t0001g0001 a0002c0002t0001g0011 a0002c0002t0001g0012 others(65): Show a0002c0002t0001g0001 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0042 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0049 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0090 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0002t0001g0094 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0100 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0001g0112 a0002c0002t0001g0113 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0129 a0002c0002t0001g0130 a0002c0002t0001g0131 a0002c0002t0001g0132 a0002c0002t0001g0133 a0002c0002t0001g0134 a0002c0002t0001g0135 a0002c0002t0001g0147 a0002c0002t0001g0157 a0002c0002t0001g0158 a0002c0002t0001g0159 a0002c0002t0001g0160 a0002c0002t0002g0165 a0002c0002t0006g0099 a0003c0004t0003g0205 a0003c0006t0003g0203 a0003c0006t0003g0204 a0005c0005t0001g0043 a0005c0005t0001g0044 a0012c0013t0001g0091	93	294	0.3163	27	c.21 others(38): Show c.2146_*2147insTTATTATAACTATAATATATAACTATA	C14orf39	ENSG00000179008.9	transcript	ENST00000321731.8	protein_coding		1257		chr14	TogoVar
C16orf46_chr16_81055980_81082238	81080667	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp1 HG03710.hp1 HG03710.hp2 others(1): Show HG01993.hp1 HG03710.hp1 HG03710.hp2 NA18968.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0057 a0002c0002t0001g0066 a0002c0002t0001g0003 a0002c0002t0001g0057 a0002c0002t0001g0066	4	406	0.0099	27	c.-36 others(38): Show c.-3660_-3659insAAAAAAAAAAAAAAAAAAAAAAAAAAA	C16orf46	ENSG00000166455.14	transcript	ENST00000299578.10	protein_coding		3430		chr16	TogoVar
C16orf90_chr16_3488484_3500489	3499362	G G	GAGTCACA others(20): Show GAGTCACATCAATCAAACCTTAAGTCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0003 a0002c0002t0002g0003	1	446	0.0022	27	c.-39 others(38): Show c.-3942_-3941insATGACTTAAGGTTTGATTGATGTGACT	C16orf90	ENSG00000215131.11	transcript	ENST00000437192.8	protein_coding		3874		chr16	TogoVar
C17orf78_chr17_37370985_37397708	37390304	T T	TTTTATAT others(20): Show TTTTATATATATATATATTATATATATA	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG03654.hp2 NA20805.hp2 HG01256.hp2 HG03654.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0125 a0001c0001t0001g0173 a0001c0001t0001g0174	3	441	0.0068	27	c.750 others(42): Show c.750+943_750+944insTTATATATATATATATTATATATATAT	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(20): Show TTTTATATATATATATTATATATATATA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	441	0.0023	27	c.750 others(42): Show c.750+943_750+944insTTATATATATATATTATATATATATAT	C17orf78	ENSG00000278505.5	transcript	ENST00000615133.2	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
C17orf80_chr17_73227433_73253959	73234782	T T	TGTGTGTG others(20): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0011 a0011	a0011c0017 a0011c0017	a0011c0017t0007 a0011c0017t0007	a0011c0017t0007g0166 a0011c0017t0007g0166	1	384	0.0026	27	c.-7- others(40): Show c.-7-684_-7-683insGTGTGTGTGTGTGTGTGGTGTGTGTGT	C17orf80	ENSG00000141219.16	transcript	ENST00000535032.7	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr17	TogoVar
C17orf98_chr17_38830086_38846438	38842866	T T	TATCTATC others(20): Show TATCTATCTATCTATCTATCTATCTATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	431	0.0023	27	c.-14 others(38): Show c.-1478_-1477insGATAGATAGATAGATAGATAGATAGAT	C17orf98	ENSG00000275489.2	transcript	ENST00000614158.2	protein_coding		1429		chr17	TogoVar
C17orf98_chr17_38830086_38846438	38845112	G G	GTTTTTTT others(20): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	431	0.0023	27	c.-37 others(38): Show c.-3724_-3723insAAAAAAAAAAAAAAAAAAAAAAAAAAA	C17orf98	ENSG00000275489.2	transcript	ENST00000614158.2	protein_coding		3675		chr17	TogoVar
C18orf63_chr18_74310839_74364189	74360639	T T	TCAGTCTC others(20): Show TCAGTCTCCTTTACTGACTGGCATTAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	372	0.0027	27	c.41 others(38): Show c.4192_*4193insCAGTCTCCTTTACTGACTGGCATTAAG	C18orf63	ENSG00000206043.7	transcript	ENST00000579455.2	protein_coding		1451		chr18	TogoVar
C18orf63_chr18_74310839_74364189	74361650	T T	TATATAAT others(20): Show TATATAATTATAATTATAATTATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG01891.hp1 NA18968.hp1 others(4): Show HG00558.hp2 HG01891.hp1 NA18968.hp1 NA18980.hp2 NA19005.hp2 NA19056.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0010 a0001c0001t0003 a0001c0002t0010	a0001c0001t0003g0067 a0001c0002t0010g0013 a0001c0002t0010g0091 others(1): Show a0001c0001t0003g0067 a0001c0002t0010g0013 a0001c0002t0010g0091 a0001c0002t0010g0095	7	372	0.0188	27	c.52 others(38): Show c.5203_*5204insATATAATTATAATTATAATTATATATA	C18orf63	ENSG00000206043.7	transcript	ENST00000579455.2	protein_coding		2462		chr18	TogoVar
C18orf63_chr18_74310839_74364189	74362017	C C	CATATGCA others(20): Show CATATGCATATATTATATAATTTGTAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0067 a0001c0001t0003g0067	1	372	0.0027	27	c.55 others(38): Show c.5570_*5571insATATGCATATATTATATAATTTGTAAT	C18orf63	ENSG00000206043.7	transcript	ENST00000579455.2	protein_coding		2829		chr18	TogoVar
C18orf63_chr18_74310839_74364189	74362044	C C	CATATGCA others(20): Show CATATGCATATATTATATAATTTGTAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0100 a0001c0001t0002g0100	1	372	0.0027	27	c.55 others(38): Show c.5597_*5598insATATGCATATATTATATAATTTGTAAT	C18orf63	ENSG00000206043.7	transcript	ENST00000579455.2	protein_coding		2856		chr18	TogoVar
C19orf12_chr19_29693937_29720261	29719936	T T	TTATTATA others(20): Show TTATTATATATAATTATATATAATACAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18980.hp1 NA19060.hp1 NA18980.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0036 a0001c0001t0003 a0001c0001t0036	a0001c0001t0003g0002 a0001c0001t0036g0223 a0001c0001t0003g0002 a0001c0001t0036g0223	2	418	0.0048	27	c.-48 others(38): Show c.-4823_-4822insTTGTATTATATATAATTATATATAATA	C19orf12	ENSG00000131943.20	transcript	ENST00000323670.14	protein_coding		4676		chr19	TogoVar
C1QL3_chr10_16508734_16526879	16519140	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02027.hp1 HG02615.hp1 others(8): Show HG00423.hp2 HG02027.hp1 HG02615.hp1 HG02818.hp2 HG02897.hp2 HG02970.hp2 HG03195.hp2 HG03516.hp2 NA19012.hp2 NA19240.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0001t0001 a0001c0001t0002 a0001c0003t0001	a0001c0001t0001g0054 a0001c0001t0002g0017 a0001c0003t0001g0019 others(1): Show a0001c0001t0001g0054 a0001c0001t0002g0017 a0001c0003t0001g0019 a0001c0003t0001g0049	11	460	0.0239	27	c.588 others(44): Show c.588+1337_588+1338insAAAAAAAAAAAAAAAAAAAAAAAAAAA	C1QL3	ENSG00000165985.11	transcript	ENST00000298943.4	protein_coding	1/1			chr10	TogoVar
C1QTNF2_chr5_160342754_160375626	160354595	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0136 a0001c0001t0026g0136	1	452	0.0022	27	c.244 others(42): Show c.244+172_244+173insATATATATATATATATATATATATATA	C1QTNF2	ENSG00000145861.9	transcript	ENST00000652664.2	protein_coding	2/2			chr5	TogoVar

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Search Results (Total: 7463 hits)