Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CYP1B1_chr2_38062509_38081151	38078098	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0002 a0002c0002t0003g0002	1	368	0.0027	23	c.-23 others(34): Show c.-2321_-2320insTTTTTTTTTTTTTTTTTTTTTTT	CYP1B1	ENSG00000138061.12	transcript	ENST00000610745.5	protein_coding		1948		chr2	TogoVar
CYP27C1_chr2_127178832_127225299	127204555	G G	GAGAAAGA others(16): Show GAGAAAGAAAGAAAGAAAGAGAGA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0019 a0002c0004t0019	a0002c0004t0019g0016 a0002c0004t0019g0016	1	352	0.0028	23	c.474 others(38): Show c.474-985_474-984insTCTCTCTTTCTTTCTTTCTTTCT	CYP27C1	ENSG00000186684.14	transcript	ENST00000664447.2	protein_coding	2/8			chr2	TogoVar
CYP2A7_chr19_40870439_40887231	40880852	A A	AGAGAGAG others(16): Show AGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0005 a0003c0002t0005	a0003c0002t0005g0161 a0003c0002t0005g0161	1	398	0.0025	23	c.344 others(38): Show c.344-225_344-224insCTCTCTCTCTCTCTCTCTCTCTC	CYP2A7	ENSG00000198077.11	transcript	ENST00000301146.9	protein_coding	2/8			chr19	TogoVar
CYP2B6_chr19_40986282_41023398	40992201	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03195.hp1 HG02895.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0031 a0001c0001t0005 a0001c0001t0031	a0001c0001t0005g0065 a0001c0001t0031g0066 a0001c0001t0005g0065 a0001c0001t0031g0066	2	440	0.0046	23	c.171 others(38): Show c.171+745_171+746insAAAAAAAAAAAAAAAAAAAAAAA	CYP2B6	ENSG00000197408.10	transcript	ENST00000324071.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYP2C18_chr10_94678729_94741190	94712008	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0081 a0002c0002t0003g0081	1	378	0.0027	23	c.819 others(40): Show c.819+5068_819+5069insTTTTTTTTTTTTTTTTTTTTTTT	CYP2C18	ENSG00000108242.13	transcript	ENST00000285979.11	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
CYP2E1_chr10_133522363_133544123	133528217	A A	AGTCCGCG others(16): Show AGTCCGCGGAGTTGCCGCGGAGTT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0104 a0001c0002t0001g0104	1	414	0.0024	23	c.178 others(38): Show c.178-252_178-230dupTGCCGCGGAGTTGTCCGCGGAGT	CYP2E1	ENSG00000130649.10	transcript	ENST00000252945.8	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
CYP3A5_chr7_99643194_99684996	99659849	T T	TCCATGGG others(16): Show TCCATGGGCGTAGGACCCTCCGAG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03130.hp1 HG03453.hp1 others(1): Show HG02451.hp2 HG03130.hp1 HG03453.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0021 a0001c0001t0002g0060 a0001c0001t0002g0062 a0001c0001t0002g0021 a0001c0001t0002g0060 a0001c0001t0002g0062	4	292	0.0137	23	c.102 others(40): Show c.1026+627_1026+649dupCTCGGAGGGTCCTACGCCCATGG	CYP3A5	ENSG00000106258.16	transcript	ENST00000222982.8	protein_coding	10/12			chr7	TogoVar
CYP4F22_chr19_15503525_15557317	15547018	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp2 NA18522.hp1 HG02572.hp2 NA18522.hp1	a0001 a0004 a0001 a0004	a0001c0005 a0004c0007 a0001c0005 a0004c0007	a0001c0005t0004 a0004c0007t0004 a0001c0005t0004 a0004c0007t0004	a0001c0005t0004g0018 a0004c0007t0004g0111 a0001c0005t0004g0018 a0004c0007t0004g0111	2	384	0.0052	23	c.113 others(42): Show c.1137-1068_1137-1067insTTTTTTTTTTTTTTTTTTTTTTT	CYP4F22	ENSG00000171954.13	transcript	ENST00000269703.8	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYP4F3_chr19_15635897_15667825	15650672	C C	CTTTCTTT others(16): Show CTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0046 a0001c0004t0005g0046	1	424	0.0024	23	c.918 others(38): Show c.918+490_918+512dupTTTCTTTCTTTCTTTCTTTCTTT	CYP4F3	ENSG00000186529.16	transcript	ENST00000221307.13	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYP4F3_chr19_15635897_15667825	15650676	C C	CTTTCTTT others(16): Show CTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03710.hp1 NA18985.hp1 others(3): Show HG03490.hp2 HG03710.hp1 NA18985.hp1 NA19002.hp2 NA19010.hp1 NA19090.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0007 a0001c0004t0037 others(1): Show a0001c0004t0005 a0001c0004t0007 a0001c0004t0037 a0001c0004t0041	a0001c0004t0005g0063 a0001c0004t0005g0076 a0001c0004t0007g0061 others(3): Show a0001c0004t0005g0063 a0001c0004t0005g0076 a0001c0004t0007g0061 a0001c0004t0007g0075 a0001c0004t0037g0066 a0001c0004t0041g0068	6	424	0.0142	23	c.918 others(38): Show c.918+494_918+516dupTTTCTTTCTTTCTTTCTTTCTTT	CYP4F3	ENSG00000186529.16	transcript	ENST00000221307.13	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYP4F3_chr19_15635897_15667825	15650776	G G	GTTCTTTC others(16): Show GTTCTTTCTTTCTTTCTTTCTTCT	intron_variant intron_variant	MODIFIER	HG03834.hp1 NA20129.hp2 HG03834.hp1 NA20129.hp2	a0001 a0012 a0001 a0012	a0001c0004 a0012c0017 a0001c0004 a0012c0017	a0001c0004t0011 a0012c0017t0034 a0001c0004t0011 a0012c0017t0034	a0001c0004t0011g0074 a0012c0017t0034g0043 a0001c0004t0011g0074 a0012c0017t0034g0043	2	424	0.0047	23	c.918 others(38): Show c.918+614_918+615insCTTTCTTTCTTTCTTTCTTTCTT	CYP4F3	ENSG00000186529.16	transcript	ENST00000221307.13	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYP4F3_chr19_15635897_15667825	15650780	T T	TTTCTTTC others(16): Show TTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01975.hp1 HG01981.hp2 others(13): Show HG01928.hp2 HG01975.hp1 HG01981.hp2 HG02300.hp2 HG02723.hp1 HG02976.hp1 HG03098.hp1 HG03195.hp1 HG03195.hp2 HG03471.hp2 HG03540.hp1 NA18522.hp1 NA18522.hp2 NA18947.hp2 NA19030.hp1 NA20300.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0010c0023 a0001c0001 a0010c0023	a0001c0001t0002 a0001c0001t0006 a0001c0001t0009 others(3): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0009 a0001c0001t0013 a0001c0001t0048 a0010c0023t0006	a0001c0001t0002g0301 a0001c0001t0002g0313 a0001c0001t0006g0302 others(13): Show a0001c0001t0002g0301 a0001c0001t0002g0313 a0001c0001t0006g0302 a0001c0001t0009g0156 a0001c0001t0009g0157 a0001c0001t0009g0186 a0001c0001t0009g0203 a0001c0001t0009g0204 a0001c0001t0009g0205 a0001c0001t0009g0215 a0001c0001t0013g0152 a0001c0001t0013g0153 a0001c0001t0013g0154 a0001c0001t0013g0158 a0001c0001t0048g0308 a0010c0023t0006g0303	16	424	0.0377	23	c.918 others(38): Show c.918+617_918+618insTTCTTCTTTCTTTCTTTCTTTCT	CYP4F3	ENSG00000186529.16	transcript	ENST00000221307.13	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYP4F3_chr19_15635897_15667825	15650883	T T	TCTCTCTC others(16): Show TCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0222 a0001c0001t0006g0222	1	424	0.0024	23	c.918 others(38): Show c.918+700_918+701insCTCTCTCTCTCTCTCTCTCTCTC	CYP4F3	ENSG00000186529.16	transcript	ENST00000221307.13	protein_coding	7/12			chr19	TogoVar
CYP4F3_chr19_15635897_15667825	15662270	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0052 a0007c0009t0052	a0007c0009t0052g0316 a0007c0009t0052g0316	1	424	0.0024	23	c.28 others(34): Show c.2885_*2886insAAAAAAAAAAAAAAAAAAAAAAA	CYP4F3	ENSG00000186529.16	transcript	ENST00000221307.13	protein_coding	13/13	2886		chr19	TogoVar
CYP4F3_chr19_15635897_15667825	15662272	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01123.hp1 HG01123.hp2 HG02451.hp2 others(1): Show HG01123.hp1 HG01123.hp2 HG02451.hp2 HG02615.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0334 a0001c0002t0017g0335 a0001c0002t0017g0356 others(1): Show a0001c0002t0017g0334 a0001c0002t0017g0335 a0001c0002t0017g0356 a0001c0002t0017g0359	4	424	0.0094	23	c.29 others(34): Show c.2907_*2908insAAAAAAAAAAAAAAAAAAAAAAA	CYP4F3	ENSG00000186529.16	transcript	ENST00000221307.13	protein_coding	13/13	2908	INFO_REALIGN_3_PRIME	chr19	TogoVar
CYP4X1_chr1_47018669_47055751	47036368	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	350	0.0029	23	c.775 others(38): Show c.775+197_775+198insATATATATATATATATATATATA	CYP4X1	ENSG00000186377.8	transcript	ENST00000371901.4	protein_coding	6/11			chr1	TogoVar
CYP4Z1_chr1_47062231_47123318	47076844	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01074.hp1 HG01167.hp2 others(18): Show HG01070.hp1 HG01074.hp1 HG01167.hp2 HG01169.hp2 HG01928.hp2 HG01943.hp2 HG02273.hp2 HG02602.hp1 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18939.hp2 NA18957.hp1 NA18968.hp2 NA18970.hp1 NA18982.hp2 NA18989.hp2 NA19000.hp1 NA19043.hp2 NA19091.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0039 a0001c0001t0001g0121 others(15): Show a0001c0001t0001g0013 a0001c0001t0001g0039 a0001c0001t0001g0121 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0191 a0001c0001t0001g0195	21	318	0.0660	23	c.320 others(40): Show c.320-3761_320-3760insAAAAAAAAAAAAAAAAAAAAAAA	CYP4Z1	ENSG00000186160.5	transcript	ENST00000334194.4	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
CYP7A1_chr8_58485178_58505163	58495356	G G	GCTGGGAC others(16): Show GCTGGGACTACAGGCACCCGCCAC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0065 a0004c0006t0001g0065	1	456	0.0022	23	c.909 others(38): Show c.909-721_909-720insGTGGCGGGTGCCTGTAGTCCCAG	CYP7A1	ENSG00000167910.4	transcript	ENST00000301645.4	protein_coding	3/5			chr8	TogoVar
CYSLTR2_chr13_48648929_48716226	48695068	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03516.hp1 NA19030.hp1 others(2): Show HG03453.hp1 HG03516.hp1 NA19030.hp1 NA19043.hp1 NA20300.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0009 a0004c0005t0007 a0001c0001t0009 a0004c0005t0007	a0001c0001t0009g0109 a0001c0001t0009g0110 a0001c0001t0009g0111 others(2): Show a0001c0001t0009g0109 a0001c0001t0009g0110 a0001c0001t0009g0111 a0001c0001t0009g0187 a0004c0005t0007g0121	5	318	0.0157	23	c.-10 others(42): Show c.-102-1454_-102-1432dupTTTTTTTTTTTTTTTTTTTTTTT	CYSLTR2	ENSG00000152207.8	transcript	ENST00000682523.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr13	TogoVar
CYSTM1_chr5_140170188_140248789	140177067	T T	TCAAAAAA others(16): Show TCAAAAAAAAAAACAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0304 a0001c0001t0001g0304	1	324	0.0031	23	c.-21 others(40): Show c.-21+1794_-21+1795insCAAAAAAAAAACAAAAAAAAAAA	CYSTM1	ENSG00000120306.11	transcript	ENST00000261811.6	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr5	TogoVar
CYTH3_chr7_6156779_6277624	6259772	T T	TATATAAT others(16): Show TATATAATAAATATATATATATAA	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0146 a0001c0001t0004g0146	1	348	0.0029	23	c.34+ others(40): Show c.34+12701_34+12702insTTATATATATATATTTATTATAT	CYTH3	ENSG00000008256.17	transcript	ENST00000350796.8	protein_coding	1/12			chr7	TogoVar
CYTH3_chr7_6156779_6277624	6259772	T T	TATATAAT others(16): Show TATATAATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02040.hp1 HG04184.hp2 others(6): Show HG00438.hp1 HG02040.hp1 HG04184.hp2 NA18946.hp2 NA18960.hp2 NA18981.hp1 NA19002.hp2 NA19012.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0033 a0001c0001t0052	a0001c0001t0001g0127 a0001c0001t0002g0264 a0001c0001t0003g0119 others(6): Show a0001c0001t0001g0127 a0001c0001t0002g0264 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0003g0124 a0001c0001t0004g0138 a0001c0001t0004g0139 a0001c0001t0033g0083 a0001c0001t0052g0088	9	348	0.0259	23	c.34+ others(40): Show c.34+12701_34+12702insTTATATATATATATATATTATAT	CYTH3	ENSG00000008256.17	transcript	ENST00000350796.8	protein_coding	1/12			chr7	TogoVar
CYTH3_chr7_6156779_6277624	6259772	T T	TATATATA others(16): Show TATATATAATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0136 a0001c0001t0004g0136	1	348	0.0029	23	c.34+ others(40): Show c.34+12701_34+12702insTTATATATATATATATTATATAT	CYTH3	ENSG00000008256.17	transcript	ENST00000350796.8	protein_coding	1/12			chr7	TogoVar
D2HGDH_chr2_241729630_241773811	241770147	G G	GCCTGCGT others(16): Show GCCTGCGTCCCCCGAGGTCAGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG01167.hp1 HG01169.hp1 others(5): Show HG01099.hp2 HG01167.hp1 HG01169.hp1 HG02145.hp1 HG02257.hp2 HG02896.hp2 HG03098.hp1 HG03225.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0004 a0001c0001 a0002c0002 a0005c0004	a0001c0001t0020 a0001c0001t0025 a0001c0001t0029 others(3): Show a0001c0001t0020 a0001c0001t0025 a0001c0001t0029 a0002c0002t0008 a0002c0002t0025 a0005c0004t0023	a0001c0001t0020g0084 a0001c0001t0025g0028 a0001c0001t0029g0014 others(4): Show a0001c0001t0020g0084 a0001c0001t0025g0028 a0001c0001t0029g0014 a0002c0002t0008g0382 a0002c0002t0025g0171 a0005c0004t0023g0380 a0005c0004t0023g0381	8	412	0.0194	23	c.21 others(34): Show c.2178_*2179insCCTGCGTCCCCCGAGGTCAGCCA	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding		1337		chr2	TogoVar
D2HGDH_chr2_241729630_241773811	241770152	C C	CGTCCCCC others(16): Show CGTCCCCCGAGGTCAGCCACCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00408.hp1 HG00408.hp2 others(191): Show HG00140.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG01070.hp1 HG01074.hp1 HG01074.hp2 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01257.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01433.hp1 HG01433.hp2 HG01515.hp2 HG01884.hp2 HG01928.hp2 HG01943.hp2 HG01952.hp1 HG02004.hp1 HG02015.hp1 HG02040.hp1 HG02056.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp2 HG02602.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp2 HG03669.hp1 HG03688.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp2 HG03942.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18942.hp2 NA18943.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp2 NA18963.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18972.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18990.hp2 NA18999.hp1 NA19000.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp2 NA19010.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19060.hp1 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp2 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp2 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(12): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0015 a0016 a0017 a0018 a0019 a0021	a0001c0001 a0001c0026 a0001c0027 others(18): Show a0001c0001 a0001c0026 a0001c0027 a0002c0002 a0003c0003 a0003c0008 a0004c0005 a0004c0016 a0004c0022 a0004c0023 a0005c0004 a0006c0006 a0007c0007 a0008c0011 a0009c0010 a0015c0019 a0016c0020 a0017c0028 a0018c0025 a0019c0031 a0021c0033	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(65): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0031 a0001c0001t0052 a0001c0026t0002 a0001c0027t0002 a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 a0002c0002t0007 a0002c0002t0009 a0002c0002t0012 a0002c0002t0013 a0002c0002t0026 a0002c0002t0033 a0002c0002t0039 a0002c0002t0049 a0003c0003t0002 a0003c0003t0005 a0003c0003t0010 a0003c0003t0011 a0003c0003t0013 a0003c0003t0014 a0003c0003t0021 a0003c0003t0024 a0003c0003t0043 a0003c0003t0044 a0003c0008t0004 a0003c0008t0005 a0004c0005t0002 a0004c0005t0005 a0004c0005t0009 a0004c0005t0010 a0004c0005t0012 a0004c0005t0013 a0004c0005t0014 a0004c0005t0024 a0004c0005t0031 a0004c0005t0047 a0004c0005t0050 a0004c0016t0012 a0004c0022t0048 a0004c0023t0002 a0005c0004t0002 a0005c0004t0045 a0006c0006t0002 a0006c0006t0004 a0007c0007t0005 a0008c0011t0002 a0008c0011t0021 a0009c0010t0002 a0009c0010t0005 a0015c0019t0002 a0016c0020t0005 a0017c0028t0004 a0018c0025t0016 a0019c0031t0004 a0021c0033t0008	a0001c0001t0002g0010 a0001c0001t0002g0030 a0001c0001t0002g0033 others(181): Show a0001c0001t0002g0010 a0001c0001t0002g0030 a0001c0001t0002g0033 a0001c0001t0002g0058 a0001c0001t0002g0061 a0001c0001t0002g0080 a0001c0001t0002g0100 a0001c0001t0002g0108 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0129 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0003g0003 a0001c0001t0003g0280 a0001c0001t0004g0001 a0001c0001t0004g0007 a0001c0001t0004g0092 a0001c0001t0004g0093 a0001c0001t0004g0107 a0001c0001t0004g0110 a0001c0001t0004g0178 a0001c0001t0005g0006 a0001c0001t0006g0082 a0001c0001t0006g0083 a0001c0001t0006g0172 a0001c0001t0006g0236 a0001c0001t0006g0241 a0001c0001t0006g0242 a0001c0001t0006g0269 a0001c0001t0006g0270 a0001c0001t0006g0271 a0001c0001t0006g0273 a0001c0001t0006g0278 a0001c0001t0006g0282 a0001c0001t0006g0285 a0001c0001t0008g0168 a0001c0001t0009g0223 a0001c0001t0009g0254 a0001c0001t0012g0295 a0001c0001t0016g0181 a0001c0001t0016g0184 a0001c0001t0017g0009 a0001c0001t0018g0253 a0001c0001t0018g0272 a0001c0001t0020g0085 a0001c0001t0031g0164 a0001c0001t0052g0162 a0001c0026t0002g0087 a0001c0027t0002g0010 a0002c0002t0002g0008 a0002c0002t0002g0070 a0002c0002t0002g0078 a0002c0002t0002g0095 a0002c0002t0002g0098 a0002c0002t0002g0105 a0002c0002t0002g0141 a0002c0002t0002g0142 a0002c0002t0002g0155 a0002c0002t0004g0016 a0002c0002t0004g0038 a0002c0002t0004g0042 a0002c0002t0004g0044 a0002c0002t0004g0045 a0002c0002t0004g0051 a0002c0002t0004g0052 a0002c0002t0004g0053 a0002c0002t0004g0054 a0002c0002t0004g0055 a0002c0002t0004g0057 a0002c0002t0004g0059 a0002c0002t0004g0060 a0002c0002t0004g0132 a0002c0002t0004g0160 a0002c0002t0004g0192 a0002c0002t0004g0193 a0002c0002t0004g0197 a0002c0002t0004g0202 a0002c0002t0004g0204 a0002c0002t0004g0208 a0002c0002t0004g0209 a0002c0002t0005g0140 a0002c0002t0007g0131 a0002c0002t0009g0263 a0002c0002t0009g0293 a0002c0002t0012g0227 a0002c0002t0013g0152 a0002c0002t0026g0043 a0002c0002t0033g0182 a0002c0002t0033g0183 a0002c0002t0039g0279 a0002c0002t0049g0106 a0003c0003t0002g0336 a0003c0003t0002g0337 a0003c0003t0005g0022 a0003c0003t0005g0335 a0003c0003t0005g0351 a0003c0003t0005g0355 a0003c0003t0005g0356 a0003c0003t0005g0362 a0003c0003t0005g0364 a0003c0003t0005g0365 a0003c0003t0010g0318 a0003c0003t0010g0328 a0003c0003t0010g0329 a0003c0003t0010g0330 a0003c0003t0010g0331 a0003c0003t0010g0332 a0003c0003t0010g0333 a0003c0003t0011g0340 a0003c0003t0011g0341 a0003c0003t0011g0342 a0003c0003t0011g0343 a0003c0003t0011g0366 a0003c0003t0011g0367 a0003c0003t0011g0376 a0003c0003t0013g0352 a0003c0003t0013g0368 a0003c0003t0013g0369 a0003c0003t0013g0370 a0003c0003t0014g0319 a0003c0003t0014g0320 a0003c0003t0014g0322 a0003c0003t0021g0358 a0003c0003t0024g0321 a0003c0003t0043g0359 a0003c0003t0044g0316 a0003c0008t0004g0374 a0003c0008t0005g0338 a0003c0008t0005g0373 a0004c0005t0002g0101 a0004c0005t0002g0104 a0004c0005t0005g0041 a0004c0005t0005g0071 a0004c0005t0005g0154 a0004c0005t0005g0210 a0004c0005t0005g0213 a0004c0005t0009g0266 a0004c0005t0010g0040 a0004c0005t0012g0219 a0004c0005t0012g0220 a0004c0005t0013g0149 a0004c0005t0014g0103 a0004c0005t0024g0036 a0004c0005t0031g0163 a0004c0005t0047g0056 a0004c0005t0050g0074 a0004c0016t0012g0277 a0004c0016t0012g0281 a0004c0022t0048g0212 a0004c0023t0002g0174 a0005c0004t0002g0026 a0005c0004t0002g0345 a0005c0004t0002g0346 a0005c0004t0002g0347 a0005c0004t0045g0357 a0006c0006t0002g0296 a0006c0006t0002g0297 a0006c0006t0002g0298 a0006c0006t0002g0299 a0006c0006t0004g0313 a0007c0007t0005g0350 a0008c0011t0002g0102 a0008c0011t0021g0035 a0009c0010t0002g0361 a0009c0010t0005g0025 a0015c0019t0002g0096 a0016c0020t0005g0064 a0017c0028t0004g0109 a0018c0025t0016g0161 a0019c0031t0004g0186 a0021c0033t0008g0323	194	412	0.4709	23	c.21 others(34): Show c.2183_*2184insGTCCCCCGAGGTCAGCCACCCGT	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding		1342		chr2	TogoVar
D2HGDH_chr2_241729630_241773811	241770152	C C	CGTCCCCC others(16): Show CGTCCCCCGAGGTCAGCCGCCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG03195.hp1 HG03209.hp2 HG02559.hp1 HG03195.hp1 HG03209.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0005 a0005c0004t0005	a0005c0004t0005g0024 a0005c0004t0005g0326 a0005c0004t0005g0024 a0005c0004t0005g0326	3	412	0.0073	23	c.21 others(34): Show c.2183_*2184insGTCCCCCGAGGTCAGCCGCCCGT	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding		1342		chr2	TogoVar
D2HGDH_chr2_241729630_241773811	241770168	C C	CCACCCGT others(16): Show CCACCCGTGTCCCCCGAGGTCAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG02056.hp2 NA18939.hp1 others(8): Show HG00558.hp2 HG02056.hp2 NA18939.hp1 NA18953.hp1 NA18977.hp2 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18993.hp1 NA18994.hp2 NA19007.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0002 a0007c0007 a0001c0001 a0002c0002 a0007c0007	a0001c0001t0004 a0001c0001t0009 a0002c0002t0004 others(2): Show a0001c0001t0004 a0001c0001t0009 a0002c0002t0004 a0007c0007t0004 a0007c0007t0026	a0001c0001t0004g0157 a0001c0001t0009g0237 a0001c0001t0009g0238 others(8): Show a0001c0001t0004g0157 a0001c0001t0009g0237 a0001c0001t0009g0238 a0001c0001t0009g0239 a0001c0001t0009g0240 a0001c0001t0009g0289 a0002c0002t0004g0048 a0002c0002t0004g0049 a0002c0002t0004g0179 a0007c0007t0004g0037 a0007c0007t0026g0046	11	412	0.0267	23	c.21 others(34): Show c.2199_*2200insCACCCGTGTCCCCCGAGGTCAGT	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding		1358		chr2	TogoVar
DAAM1_chr14_59183667_59376403	59327402	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03490.hp1 HG02922.hp2 HG03490.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0009 a0001c0003t0005 a0001c0003t0009	a0001c0003t0005g0038 a0001c0003t0009g0029 a0001c0003t0005g0038 a0001c0003t0009g0029	2	298	0.0067	23	c.137 others(40): Show c.1372+413_1372+435dupTTTTTTTTTTTTTTTTTTTTTTT	DAAM1	ENSG00000100592.16	transcript	ENST00000360909.8	protein_coding	12/24		INFO_REALIGN_3_PRIME	chr14	TogoVar
DAB1_chr1_56989778_57429060	57207446	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00642.hp1 HG01346.hp2 others(3): Show HG00438.hp1 HG00642.hp1 HG01346.hp2 HG01981.hp2 HG03486.hp2 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0011	a0001c0001t0001g0052 a0001c0001t0001g0105 a0001c0001t0002g0051 others(3): Show a0001c0001t0001g0052 a0001c0001t0001g0105 a0001c0001t0002g0051 a0001c0001t0002g0061 a0001c0001t0003g0075 a0001c0001t0011g0085	6	138	0.0435	23	c.68- others(40): Show c.68-62018_68-62017insAAAAAAAAAAAAAAAAAAAAAAA	DAB1	ENSG00000173406.16	transcript	ENST00000371236.7	protein_coding	2/14			chr1	TogoVar
DACH1_chr13_71432966_71872204	71553447	T T	TATATGTA others(16): Show TATATGTATATTAGACATATATAC	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	102	0.0098	23	c.157 others(42): Show c.1570+3576_1570+3577insGTATATATGTCTAATATACATAT	DACH1	ENSG00000276644.5	transcript	ENST00000613252.5	protein_coding	6/10			chr13	TogoVar
DACH1_chr13_71432966_71872204	71800878	T T	TGAAAAAA others(16): Show TGAAAAAAAATCTCTGCAACAATA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02258.hp2 HG02559.hp2 others(2): Show HG02109.hp1 HG02258.hp2 HG02559.hp2 HG02976.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0003 a0001c0001t0001 a0002c0002t0003	a0001c0001t0001g0022 a0002c0002t0003g0062 a0002c0002t0003g0089 others(2): Show a0001c0001t0001g0022 a0002c0002t0003g0062 a0002c0002t0003g0089 a0002c0002t0003g0090 a0002c0002t0003g0091	5	102	0.0490	23	c.848 others(42): Show c.848+65043_848+65044insTATTGTTGCAGAGATTTTTTTTC	DACH1	ENSG00000276644.5	transcript	ENST00000613252.5	protein_coding	1/10			chr13	TogoVar
DACH2_chrX_86143451_86837602	86147115	A A	AAAAAAAA others(16): Show AAAAAAAAGTATGTATATGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	166	0.0060	23	c.-15 others(34): Show c.-1506_-1505insAAAAAAAGTATGTATATGTGTGT	DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding		1335		chrX	TogoVar
DACH2_chrX_86143451_86837602	86599466	T T	TTTCTTTC others(16): Show TTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0102 a0001c0001t0002g0102	1	166	0.0060	23	c.641 others(42): Show c.641-51568_641-51567insCTTTCTTTCTTTCTTTCTTTCTT	DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding	3/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
DACH2_chrX_86143451_86837602	86705063	A A	ATATATCT others(16): Show ATATATCTCACATATATATATATC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00673.hp1 HG01099.hp1 others(35): Show HG00423.hp2 HG00673.hp1 HG01099.hp1 HG02040.hp1 HG02056.hp1 HG02080.hp1 HG02080.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02735.hp1 HG02976.hp1 HG03017.hp1 HG03130.hp1 HG03139.hp1 HG04204.hp1 NA18939.hp2 NA18948.hp1 NA18950.hp1 NA18955.hp1 NA18959.hp1 NA18965.hp1 NA18966.hp1 NA18971.hp1 NA18977.hp1 NA18982.hp1 NA18983.hp1 NA18989.hp1 NA18990.hp1 NA19002.hp1 NA19004.hp1 NA19005.hp1 NA19006.hp1 NA19056.hp1 NA19068.hp1 NA19091.hp1 NA19240.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0003 a0001c0001 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0002c0003t0001	a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0025 others(35): Show a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0025 a0001c0001t0001g0034 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0068 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0091 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0110 a0001c0001t0001g0116 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0148 a0001c0001t0001g0152 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0002g0019 a0001c0001t0002g0036 a0001c0004t0001g0150 a0002c0003t0001g0096	38	166	0.2289	23	c.932 others(40): Show c.932-9482_932-9481insATCTCACATATATATATATCTAT	DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding	5/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
DACH2_chrX_86143451_86837602	86707912	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02040.hp1 HG02129.hp1 others(8): Show HG01099.hp1 HG02040.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02976.hp1 HG03130.hp1 NA18948.hp1 NA18977.hp1 NA19056.hp1 NA19091.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0012 a0001c0001t0001g0034 a0001c0001t0001g0052 others(8): Show a0001c0001t0001g0012 a0001c0001t0001g0034 a0001c0001t0001g0052 a0001c0001t0001g0074 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0110 a0001c0001t0001g0116 a0001c0001t0001g0148 a0002c0003t0001g0096	11	166	0.0663	23	c.932 others(40): Show c.932-6618_932-6617insAAAAAAAAAAAAAAAAAAAAAAA	DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding	5/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
DAG1_chr3_49465267_49540615	49528275	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0079 a0001c0002t0002g0079	1	238	0.0042	23	c.286 others(40): Show c.286-2517_286-2495dupTTTTTTTTTTTTTTTTTTTTTTT	DAG1	ENSG00000173402.13	transcript	ENST00000308775.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
DAGLB_chr7_6404129_6452954	6421309	A A	AGCGCGGG others(16): Show AGCGCGGGCAGCGCGGGAGGCGCA	intron_variant intron_variant	MODIFIER	HG02165.hp1 NA18952.hp2 NA18957.hp1 others(4): Show HG02165.hp1 NA18952.hp2 NA18957.hp1 NA18990.hp1 NA18999.hp2 NA19074.hp1 NA19085.hp2	a0001 a0009 a0001 a0009	a0001c0002 a0009c0018 a0001c0002 a0009c0018	a0001c0002t0002 a0009c0018t0002 a0001c0002t0002 a0009c0018t0002	a0001c0002t0002g0094 a0001c0002t0002g0111 a0001c0002t0002g0116 others(4): Show a0001c0002t0002g0094 a0001c0002t0002g0111 a0001c0002t0002g0116 a0001c0002t0002g0158 a0001c0002t0002g0159 a0001c0002t0002g0160 a0009c0018t0002g0163	7	380	0.0184	23	c.121 others(40): Show c.1218+417_1218+418insTGCGCCTCCCGCGCTGCCCGCGC	DAGLB	ENSG00000164535.15	transcript	ENST00000297056.11	protein_coding	9/14			chr7	TogoVar
DAOA_chr13_105461045_105496034	105493422	C C	CTCTCTCT others(16): Show CTCTCTCTCTCTCTCATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0163 a0002c0002t0001g0163	1	412	0.0024	23	c.26 others(34): Show c.2622_*2623insTCTCTCTCTCTCTCATATATATA	DAOA	ENSG00000182346.22	transcript	ENST00000375936.9	protein_coding		2389		chr13	TogoVar
DAOA_chr13_105461045_105496034	105493422	C C	CTTCTCTC others(16): Show CTTCTCTCTCTCTCTCTATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0008 a0002c0002t0001g0008	1	412	0.0024	23	c.26 others(34): Show c.2622_*2623insTTCTCTCTCTCTCTCTATATATA	DAOA	ENSG00000182346.22	transcript	ENST00000375936.9	protein_coding		2389		chr13	TogoVar
DAPK1_chr9_87492867_87713634	87662560	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0014 a0001c0004t0014	a0001c0004t0014g0178 a0001c0004t0014g0178	1	236	0.0042	23	c.192 others(42): Show c.1923+4436_1923+4458dupTTTTTTTTTTTTTTTTTTTTTTT	DAPK1	ENSG00000196730.13	transcript	ENST00000408954.8	protein_coding	18/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
DAPK3_chr19_3953453_3976099	3953637	A A	AGGGGGGC others(16): Show AGGGGGGCGGGGGGGGGGGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	364	0.0028	23	c.54 others(34): Show c.5463_*5464insCCCCCCCCCCCCCCCCGCCCCCC	DAPK3	ENSG00000167657.14	transcript	ENST00000545797.7	protein_coding		4815		chr19	TogoVar
DBF4B_chr17_44703665_44757264	44725684	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01884.hp1 HG02083.hp1 HG01168.hp2 HG01884.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0214 a0001c0001t0001g0233 a0001c0001t0002g0025 a0001c0001t0001g0214 a0001c0001t0001g0233 a0001c0001t0002g0025	3	288	0.0104	23	c.225 others(40): Show c.225+2682_225+2683insTTTTTTTTTTTTTTTTTTTTTTT	DBF4B	ENSG00000161692.18	transcript	ENST00000315005.8	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
DBH_chr9_133631363_133664329	133663670	G G	GATTGGGG others(16): Show GATTGGGGTGGATTAGAGACTGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	402	0.0025	23	c.52 others(34): Show c.5223_*5224insATTGGGGTGGATTAGAGACTGCC	DBH	ENSG00000123454.12	transcript	ENST00000393056.8	protein_coding		4342		chr9	TogoVar
DBNDD1_chr16_89999871_90024456	90013262	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02486.hp1 HG02572.hp2 others(13): Show HG02055.hp1 HG02486.hp1 HG02572.hp2 HG02630.hp2 HG02647.hp1 HG03041.hp2 HG03130.hp1 HG03209.hp1 HG03209.hp2 HG03669.hp2 NA18939.hp1 NA18971.hp2 NA19043.hp2 NA19066.hp2 NA19081.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0001 a0001c0001t0003 a0001c0001t0006	a0001c0001t0001g0080 a0001c0001t0001g0132 a0001c0001t0001g0133 others(13): Show a0001c0001t0001g0080 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0194 a0001c0001t0003g0143 a0001c0001t0003g0146 a0001c0001t0003g0148 a0001c0001t0003g0173 a0001c0001t0003g0174 a0001c0001t0003g0181 a0001c0001t0003g0182 a0001c0001t0003g0214 a0001c0001t0006g0187	16	412	0.0388	23	c.32- others(38): Show c.32-3833_32-3832insTTTTTTTTTTTTTTTTTTTTTTT	DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding	1/3			chr16	TogoVar
DCAF1_chr3_51392842_51505015	51487818	G G	GGGACAAA others(16): Show GGGACAAACCACCACGCCCAGCCT	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	274	0.0037	23	c.-8- others(38): Show c.-8-4005_-8-3983dupAGGCTGGGCGTGGTGGTTTGTCC	DCAF1	ENSG00000145041.17	transcript	ENST00000684031.1	protein_coding	2/24			chr3	TogoVar
DCAF4_chr14_72921464_72964703	72953732	A A	AAAAAAAT others(16): Show AAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0105 a0001c0001t0002g0105	1	396	0.0025	23	c.809 others(38): Show c.809-431_809-430insAAAAATATATATATATATATATA	DCAF4	ENSG00000119599.17	transcript	ENST00000358377.7	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
DCAF5_chr14_69045881_69158119	69105944	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01099.hp2 HG03471.hp1 others(1): Show HG00642.hp2 HG01099.hp2 HG03471.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0001 a0001c0001t0004 a0001c0002t0001	a0001c0001t0004g0183 a0001c0001t0004g0188 a0001c0002t0001g0001 a0001c0001t0004g0183 a0001c0001t0004g0188 a0001c0002t0001g0001	4	244	0.0164	23	c.665 others(42): Show c.665+10421_665+10422insTATATATATATATATATATATAT	DCAF5	ENSG00000139990.18	transcript	ENST00000341516.10	protein_coding	5/8			chr14	TogoVar
DCAF8L2_chrX_27585344_27754942	27587985	A A	AAAAAAAA others(16): Show AAAAAAAAATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0010 a0004c0004t0010	a0004c0004t0010g0067 a0004c0004t0010g0067	1	262	0.0038	23	c.-27 others(34): Show c.-2797_-2796insAAAAAAAATATATATATATATAT	DCAF8L2	ENSG00000189186.11	transcript	ENST00000451261.7	protein_coding		2358		chrX	TogoVar
DCBLD2_chr3_98790941_98906695	98876412	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0165 a0001c0002t0007g0165	1	330	0.0030	23	c.433 others(40): Show c.433+5105_433+5127dupTTTTTTTTTTTTTTTTTTTTTTT	DCBLD2	ENSG00000057019.16	transcript	ENST00000326840.11	protein_coding	2/15			chr3	TogoVar
DCC_chr18_52335197_53540899	52515606	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01884.hp1 HG01069.hp1 HG01884.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0041 a0001c0003t0003g0073 a0001c0003t0003g0041 a0001c0003t0003g0073	2	114	0.0175	23	c.91+ others(42): Show c.91+174748_91+174749insAAAAAAAAAAAAAAAAAAAAAAA	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr18	TogoVar

Search by Variant

Search

Search Results (Total: 8696 hits)