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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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
DAPK2_chr15_63902036_64051485	64033286	G G	GAAGGAAG others(10): Show GAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02735.hp2 HG03239.hp1 others(1): Show HG01934.hp2 HG02735.hp2 HG03239.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0021 a0001c0001t0025 a0001c0001t0014 a0001c0001t0021 a0001c0001t0025	a0001c0001t0014g0197 a0001c0001t0021g0195 a0001c0001t0021g0196 others(1): Show a0001c0001t0014g0197 a0001c0001t0021g0195 a0001c0001t0021g0196 a0001c0001t0025g0008	4	214	0.0187	17	c.92+ others(32): Show c.92+6883_92+6884insTCCTTCCTTCCTTCCTT	DAPK2	ENSG00000035664.11	transcript	ENST00000457488.6	protein_coding	2/11			chr15	TogoVar
DAPK2_chr15_63902036_64051485	64033325	G G	GAAGGAAG others(10): Show GAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01192.hp1 HG02970.hp1 others(1): Show HG01168.hp2 HG01192.hp1 HG02970.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0073 a0001c0001t0001g0074 others(1): Show a0001c0001t0001g0064 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075	4	214	0.0187	17	c.92+ others(32): Show c.92+6844_92+6845insTCCTTCCTTCCTTCCTT	DAPK2	ENSG00000035664.11	transcript	ENST00000457488.6	protein_coding	2/11			chr15	TogoVar
DAPK3_chr19_3953453_3976099	3953637	A A	AGGGGGGC others(10): Show AGGGGGGCGGGGGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 HG00741.hp1 HG01099.hp1 others(11): Show HG00609.hp2 HG00741.hp1 HG01099.hp1 HG01255.hp2 HG01515.hp2 HG01993.hp2 HG02074.hp2 HG02135.hp2 HG04115.hp1 HG04115.hp2 NA18997.hp1 NA18997.hp2 NA19009.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 others(5): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0019 a0001c0001t0001g0088 a0001c0001t0001g0092 a0001c0001t0001g0103	14	364	0.0385	17	c.54 others(28): Show c.5463_*5464insCCCCCCCCCCGCCCCCC	DAPK3	ENSG00000167657.14	transcript	ENST00000545797.7	protein_coding		4815		chr19	TogoVar
DAPK3_chr19_3953453_3976099	3953645	G G	GGGGGGGG others(10): Show GGGGGGGGGGGGGGGCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	364	0.0028	17	c.54 others(28): Show c.5455_*5456insGCGCCCCCCCCCCCCCC	DAPK3	ENSG00000167657.14	transcript	ENST00000545797.7	protein_coding		4807		chr19	TogoVar
DAPK3_chr19_3953453_3976099	3953645	G G	GGGGGGGG others(10): Show GGGGGGGGGGGGGGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG01123.hp2 HG01258.hp1 others(12): Show HG00140.hp1 HG01123.hp2 HG01258.hp1 HG01496.hp2 HG01975.hp1 HG02015.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02273.hp2 HG02809.hp2 HG03486.hp2 NA19007.hp2 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0009 others(7): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0090 a0001c0001t0001g0096 a0001c0001t0001g0102 a0001c0001t0002g0002 a0001c0001t0003g0005 a0001c0001t0005g0017	15	364	0.0412	17	c.54 others(28): Show c.5455_*5456insGCCCCCCCCCCCCCCCC	DAPK3	ENSG00000167657.14	transcript	ENST00000545797.7	protein_coding		4807		chr19	TogoVar
DAPK3_chr19_3953453_3976099	3953646	G G	GGGGGGGG others(10): Show GGGGGGGGGGGGGGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	364	0.0028	17	c.54 others(28): Show c.5454_*5455insGCCCCCCCCCCCCCCCC	DAPK3	ENSG00000167657.14	transcript	ENST00000545797.7	protein_coding		4806		chr19	TogoVar
DAPK3_chr19_3953453_3976099	3953651	G G	GGGGGGGG others(10): Show GGGGGGGGGGCGGGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	364	0.0028	17	c.54 others(28): Show c.5449_*5450insACCCCCCGCCCCCCCCC	DAPK3	ENSG00000167657.14	transcript	ENST00000545797.7	protein_coding		4801		chr19	TogoVar
DAPL1_chr2_158790317_158820990	158791984	T T	TTTCTTTC others(10): Show TTTCTTTCTTTCTTTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	360	0.0028	17	c.-33 others(28): Show c.-3389_-3388insTTCTTTCTTTCTTTCTC	DAPL1	ENSG00000163331.12	transcript	ENST00000309950.8	protein_coding		3332		chr2	TogoVar
DAPL1_chr2_158790317_158820990	158809357	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01167.hp2 HG01169.hp1 others(2): Show HG01070.hp1 HG01167.hp2 HG01169.hp1 HG01517.hp1 NA19030.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0004 a0002c0002 a0003c0004	a0002c0002t0002 a0003c0004t0002 a0002c0002t0002 a0003c0004t0002	a0002c0002t0002g0141 a0003c0004t0002g0017 a0003c0004t0002g0070 a0002c0002t0002g0141 a0003c0004t0002g0017 a0003c0004t0002g0070	5	360	0.0139	17	c.207 others(34): Show c.207+2253_207+2254insAAAAAAAAAAAAAAAAA	DAPL1	ENSG00000163331.12	transcript	ENST00000309950.8	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
DAPP1_chr4_99811827_99875190	99827532	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG02818.hp2 HG01167.hp2 HG01169.hp1 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0065 a0001c0001t0005g0121 a0001c0001t0005g0122 a0001c0001t0002g0065 a0001c0001t0005g0121 a0001c0001t0005g0122	3	366	0.0082	17	c.102 others(34): Show c.102-8081_102-8080insAAAAAAAAAAAAAAAAA	DAPP1	ENSG00000070190.13	transcript	ENST00000512369.2	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
DARS2_chr1_173819673_173863546	173837848	A A	ACTGCAAC others(10): Show ACTGCAACCTCCGCCTCC	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	344	0.0029	17	c.771 others(32): Show c.771-338_771-322dupCAACCTCCGCCTCCCTG	DARS2	ENSG00000117593.12	transcript	ENST00000649689.2	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
DAW1_chr2_227866631_227929344	227903638	T T	TCTCCCCT others(10): Show TCTCCCCTTCCTCCCACC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02809.hp1 HG02896.hp2 others(4): Show HG02723.hp2 HG02809.hp1 HG02896.hp2 HG02976.hp1 HG03209.hp2 NA18906.hp1 NA20129.hp2	a0001 a0005 a0008 a0001 a0005 a0008	a0001c0003 a0005c0011 a0008c0008 a0001c0003 a0005c0011 a0008c0008	a0001c0003t0001 a0005c0011t0001 a0008c0008t0001 a0001c0003t0001 a0005c0011t0001 a0008c0008t0001	a0001c0003t0001g0298 a0001c0003t0001g0300 a0001c0003t0001g0301 others(4): Show a0001c0003t0001g0298 a0001c0003t0001g0300 a0001c0003t0001g0301 a0001c0003t0001g0302 a0001c0003t0001g0303 a0005c0011t0001g0299 a0008c0008t0001g0323	7	340	0.0206	17	c.648 others(32): Show c.648+582_648+598dupTCCCCTTCCTCCCACCC	DAW1	ENSG00000123977.10	transcript	ENST00000309931.3	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
DAW1_chr2_227866631_227929344	227910525	C C	CACACACA others(10): Show CACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	340	0.0029	17	c.973 others(34): Show c.973+3273_973+3274insACACACACACACACACA	DAW1	ENSG00000123977.10	transcript	ENST00000309931.3	protein_coding	10/12			chr2	TogoVar
DAZ3_chrY_24758069_24818393	24792919	A A	AAAGAAAG others(10): Show AAAGAAAGAAAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03017.hp1 NA18962.hp1 HG03017.hp1 NA18962.hp1	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0001 a0006c0005t0001	a0006c0005t0001g0013 a0006c0005t0001g0023 a0006c0005t0001g0013 a0006c0005t0001g0023	2	45	0.0444	17	c.858 others(32): Show c.858+730_858+731insCTTTCTTTTTCTTTCTT	DAZ3	ENSG00000187191.16	transcript	ENST00000382365.7	protein_coding	11/18			chrY	TogoVar
DAZAP1_chr19_1402586_1440684	1414032	T T	TGTGTGTG others(10): Show TGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02132.hp2 HG02071.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0012 a0001c0001t0005 a0001c0002t0012	a0001c0001t0005g0040 a0001c0002t0012g0109 a0001c0001t0005g0040 a0001c0002t0012g0109	2	374	0.0054	17	c.30- others(32): Show c.30-3468_30-3467insGTGTGTGTGTGTGTGTG	DAZAP1	ENSG00000071626.17	transcript	ENST00000233078.9	protein_coding	1/11			chr19	TogoVar
DAZAP2_chr12_51233826_51248933	51235998	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0039 a0001c0001t0007g0039	1	438	0.0023	17	c.-29 others(28): Show c.-2910_-2909insTTTTTTTTTTTTTTTTT	DAZAP2	ENSG00000183283.16	transcript	ENST00000412716.8	protein_coding		2827		chr12	TogoVar
DAZAP2_chr12_51233826_51248933	51235999	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0006 a0001c0001t0009g0006	1	438	0.0023	17	c.-29 others(28): Show c.-2909_-2908insTTTTTTTTTTTTTTTTT	DAZAP2	ENSG00000183283.16	transcript	ENST00000412716.8	protein_coding		2826		chr12	TogoVar
DAZL_chr3_16581792_16610423	16596228	C C	CAAATCCT others(10): Show CAAATCCTACTTTAAATA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0132 a0002c0002t0001g0132	1	446	0.0022	17	c.498 others(32): Show c.498+505_498+521dupTATTTAAAGTAGGATTT	DAZL	ENSG00000092345.14	transcript	ENST00000399444.7	protein_coding	6/10			chr3	TogoVar
DAZL_chr3_16581792_16610423	16609597	T T	TGTGTGTG others(10): Show TGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0014 a0002c0002t0001g0014	1	446	0.0022	17	c.-43 others(28): Show c.-4393_-4392insCACACACACACACACAC	DAZL	ENSG00000092345.14	transcript	ENST00000399444.7	protein_coding		4175		chr3	TogoVar
DBF4B_chr17_44703665_44757264	44725684	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0027 a0001c0001t0002g0027	1	288	0.0035	17	c.225 others(34): Show c.225+2666_225+2682dupTTTTTTTTTTTTTTTTT	DBF4B	ENSG00000161692.18	transcript	ENST00000315005.8	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
DBF4B_chr17_44703665_44757264	44726323	T T	TATTTATT others(10): Show TATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0286 a0001c0001t0001g0286	1	288	0.0035	17	c.225 others(34): Show c.225+3313_225+3314insATTTAATTTATTTATTT	DBF4B	ENSG00000161692.18	transcript	ENST00000315005.8	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
DBNDD1_chr16_89999871_90024456	90013262	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0168 a0001c0001t0003g0168	1	412	0.0024	17	c.32- others(32): Show c.32-3849_32-3833dupTTTTTTTTTTTTTTTTT	DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding	1/3			chr16	TogoVar
DCAF10_chr9_37795797_37872664	37816659	G G	GGGGGTGT others(10): Show GGGGGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0010 a0001c0001t0015g0010	1	356	0.0028	17	c.540 others(34): Show c.540-2628_540-2627insGGGTGTGTGTGTGTGTG	DCAF10	ENSG00000122741.16	transcript	ENST00000377724.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr9	TogoVar
DCAF10_chr9_37795797_37872664	37863325	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0030 a0001c0003t0030	a0001c0003t0030g0040 a0001c0003t0030g0040	1	356	0.0028	17	c.18 others(28): Show c.1825_*1841dupAAAAAAAAAAAAAAAAA	DCAF10	ENSG00000122741.16	transcript	ENST00000377724.8	protein_coding	7/7	1842	INFO_REALIGN_3_PRIME	chr9	TogoVar
DCAF1_chr3_51392842_51505015	51451069	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	274	0.0037	17	c.376 others(34): Show c.376-7183_376-7167dupAAAAAAAAAAAAAAAAA	DCAF1	ENSG00000145041.17	transcript	ENST00000684031.1	protein_coding	6/24			chr3	TogoVar
DCAF4_chr14_72921464_72964703	72928187	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02074.hp2 HG02602.hp1 others(3): Show HG02004.hp2 HG02074.hp2 HG02602.hp1 HG03942.hp2 NA18612.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0251 a0001c0001t0002g0098 a0001c0001t0002g0099 others(3): Show a0001c0001t0001g0251 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0107	6	396	0.0152	17	c.-9+ others(32): Show c.-9+1651_-9+1667dupTTTTTTTTTTTTTTTTT	DCAF4	ENSG00000119599.17	transcript	ENST00000358377.7	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
DCAF4_chr14_72921464_72964703	72953732	A A	AAAAAAAA others(10): Show AAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0046 a0001c0001t0002g0046	1	396	0.0025	17	c.809 others(32): Show c.809-431_809-430insAAAAAAATATATATATA	DCAF4	ENSG00000119599.17	transcript	ENST00000358377.7	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
DCAF4_chr14_72921464_72964703	72953732	A A	AAAAAAAT others(10): Show AAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00642.hp2 NA19077.hp1 HG00558.hp1 HG00642.hp2 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0045 a0001c0001t0002g0087 a0001c0001t0002g0369 a0001c0001t0002g0045 a0001c0001t0002g0087 a0001c0001t0002g0369	3	396	0.0076	17	c.809 others(32): Show c.809-431_809-430insAAAAATATATATATATA	DCAF4	ENSG00000119599.17	transcript	ENST00000358377.7	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
DCAF4_chr14_72921464_72964703	72953732	A A	AAATATAT others(10): Show AAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02145.hp2 HG02622.hp1 others(2): Show HG02027.hp1 HG02145.hp2 HG02622.hp1 NA18612.hp1 NA19004.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0002 a0001c0002t0001 a0002c0004t0006 a0001c0001t0002 a0001c0002t0001 a0002c0004t0006	a0001c0001t0002g0021 a0001c0001t0002g0100 a0001c0001t0002g0182 others(2): Show a0001c0001t0002g0021 a0001c0001t0002g0100 a0001c0001t0002g0182 a0001c0002t0001g0221 a0002c0004t0006g0300	5	396	0.0126	17	c.809 others(32): Show c.809-431_809-430insATATATATATATATATA	DCAF4	ENSG00000119599.17	transcript	ENST00000358377.7	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
DCAF4_chr14_72921464_72964703	72955914	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0013 a0013	a0013c0018 a0013c0018	a0013c0018t0001 a0013c0018t0001	a0013c0018t0001g0198 a0013c0018t0001g0198	1	396	0.0025	17	c.117 others(34): Show c.1179+228_1179+244dupTTTTTTTTTTTTTTTTT	DCAF4	ENSG00000119599.17	transcript	ENST00000358377.7	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
DCAF6_chr1_167931683_168080836	167967714	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0235 a0001c0001t0002g0235	1	266	0.0038	17	c.252 others(34): Show c.252+1003_252+1019dupTTTTTTTTTTTTTTTTT	DCAF6	ENSG00000143164.16	transcript	ENST00000367840.4	protein_coding	3/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
DCAF6_chr1_167931683_168080836	167992283	A A	ACACACAC others(10): Show ACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0026 a0001c0002t0001g0026	1	266	0.0038	17	c.689 others(32): Show c.689-943_689-942insCACACACACACACACAC	DCAF6	ENSG00000143164.16	transcript	ENST00000367840.4	protein_coding	6/21			chr1	TogoVar
DCAF7_chr17_63545477_63599266	63588189	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03471.hp2 NA19030.hp2 HG02280.hp2 HG03471.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0014 a0001c0001t0001 a0001c0001t0010 a0001c0001t0014	a0001c0001t0001g0209 a0001c0001t0010g0192 a0001c0001t0014g0205 a0001c0001t0001g0209 a0001c0001t0010g0192 a0001c0001t0014g0205	3	262	0.0115	17	c.857 others(32): Show c.857-795_857-794insTTTTTTTTTTTTTTTTT	DCAF7	ENSG00000136485.16	transcript	ENST00000614556.5	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
DCAF8L2_chrX_27585344_27754942	27587985	A A	AAAAATAT others(10): Show AAAAATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0014 a0014	a0014c0014 a0014c0014	a0014c0014t0003 a0014c0014t0003	a0014c0014t0003g0069 a0014c0014t0003g0069	1	262	0.0038	17	c.-27 others(28): Show c.-2797_-2796insAAAATATATATATATAT	DCAF8L2	ENSG00000189186.11	transcript	ENST00000451261.7	protein_coding		2358		chrX	TogoVar
DCAKD_chr17_45018344_45056632	45054002	G G	GTATATTG others(10): Show GTATATTGAGGAATTAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0228 a0001c0001t0002g0228	1	408	0.0025	17	c.-27 others(28): Show c.-2757_-2756insTTTAATTCCTCAATATA	DCAKD	ENSG00000172992.13	transcript	ENST00000651974.1	protein_coding		2371		chr17	TogoVar
DCBLD1_chr6_117477674_117554797	117479103	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp1 HG03130.hp1 NA19012.hp1 HG02970.hp1 HG03130.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0002 a0001c0003t0001 a0001c0001t0001 a0001c0002t0002 a0001c0003t0001	a0001c0001t0001g0318 a0001c0002t0002g0270 a0001c0003t0001g0295 a0001c0001t0001g0318 a0001c0002t0002g0270 a0001c0003t0001g0295	3	370	0.0081	17	c.-36 others(28): Show c.-3679_-3678insTTTTTTTTTTTTTTTTT	DCBLD1	ENSG00000164465.19	transcript	ENST00000338728.10	protein_coding		3570		chr6	TogoVar
DCBLD2_chr3_98790941_98906695	98825680	T T	TATATATA others(10): Show TATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0276 a0001c0001t0001g0276	1	330	0.0030	17	c.572 others(32): Show c.572-315_572-314insTATATATATATATATAT	DCBLD2	ENSG00000057019.16	transcript	ENST00000326840.11	protein_coding	3/15			chr3	TogoVar
DCBLD2_chr3_98790941_98906695	98870736	A A	AAAAAGAA others(10): Show AAAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0007 a0001c0002t0004g0007	1	330	0.0030	17	c.433 others(36): Show c.433+10787_433+10803dupCTTTCTTTCTTTCTTTT	DCBLD2	ENSG00000057019.16	transcript	ENST00000326840.11	protein_coding	2/15			chr3	TogoVar
DCBLD2_chr3_98790941_98906695	98870741	G G	GAAAGAAA others(10): Show GAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00558.hp2 HG00642.hp1 others(13): Show HG00544.hp1 HG00558.hp2 HG00642.hp1 HG01981.hp2 HG02074.hp1 HG02132.hp1 HG02135.hp2 HG02683.hp2 HG02735.hp1 HG02965.hp1 HG02970.hp1 HG03471.hp2 NA18906.hp2 NA18939.hp1 NA18969.hp1 NA19076.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0004 a0001c0002 a0002c0004	a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 others(3): Show a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0012 a0001c0002t0037 a0002c0004t0002	a0001c0002t0002g0043 a0001c0002t0004g0061 a0001c0002t0004g0070 others(13): Show a0001c0002t0002g0043 a0001c0002t0004g0061 a0001c0002t0004g0070 a0001c0002t0004g0071 a0001c0002t0004g0080 a0001c0002t0004g0082 a0001c0002t0004g0098 a0001c0002t0005g0063 a0001c0002t0005g0069 a0001c0002t0012g0033 a0001c0002t0012g0034 a0001c0002t0037g0137 a0002c0004t0002g0020 a0002c0004t0002g0021 a0002c0004t0002g0022 a0002c0004t0002g0035	16	330	0.0485	17	c.433 others(36): Show c.433+10782_433+10798dupTCTTTCTTTCTTTCTTT	DCBLD2	ENSG00000057019.16	transcript	ENST00000326840.11	protein_coding	2/15			chr3	TogoVar
DCC_chr18_52335197_53540899	52418861	T T	TCTTTCTT others(10): Show TCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA19065.hp2 NA18948.hp1 NA19065.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0034 a0002c0001t0035 a0001c0002t0034 a0002c0001t0035	a0001c0002t0034g0091 a0002c0001t0035g0085 a0001c0002t0034g0091 a0002c0001t0035g0085	2	114	0.0175	17	c.91+ others(34): Show c.91+77983_91+77984insCTTTCTTTCTTTCTTTC	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	1/28			chr18	TogoVar
DCC_chr18_52335197_53540899	52714257	C C	CTTTCATA others(10): Show CTTTCATAGCAAATACAT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01884.hp2 HG03195.hp1 HG00642.hp2 HG01884.hp2 HG03195.hp1	a0001 a0001	a0001c0002 a0001c0010 a0001c0002 a0001c0010	a0001c0002t0001 a0001c0010t0003 a0001c0002t0001 a0001c0010t0003	a0001c0002t0001g0094 a0001c0002t0001g0103 a0001c0010t0003g0096 a0001c0002t0001g0094 a0001c0002t0001g0103 a0001c0010t0003g0096	3	114	0.0263	17	c.92- others(34): Show c.92-37780_92-37764dupTTTTCATAGCAAATACA	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DCC_chr18_52335197_53540899	52879412	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02622.hp1 HG03225.hp1 others(1): Show HG01433.hp2 HG02622.hp1 HG03225.hp1 NA19057.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0023 a0001c0002 a0001c0003 a0001c0023	a0001c0002t0001 a0001c0002t0005 a0001c0003t0004 others(1): Show a0001c0002t0001 a0001c0002t0005 a0001c0003t0004 a0001c0023t0001	a0001c0002t0001g0029 a0001c0002t0005g0028 a0001c0003t0004g0092 others(1): Show a0001c0002t0001g0029 a0001c0002t0005g0028 a0001c0003t0004g0092 a0001c0023t0001g0106	4	114	0.0351	17	c.413 others(36): Show c.413-26619_413-26603dupTTTTTTTTTTTTTTTTT	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	2/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DCC_chr18_52335197_53540899	53090698	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0006 a0001c0002t0006g0006	1	114	0.0088	17	c.126 others(38): Show c.1261+24552_1261+24568dupAAAAAAAAAAAAAAAAA	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	7/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DCC_chr18_52335197_53540899	53159008	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0021 a0001c0002t0006g0021	1	114	0.0088	17	c.141 others(36): Show c.1418+1496_1418+1497insAAAAAAAAAAAAAAAAG	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	8/28			chr18	TogoVar
DCC_chr18_52335197_53540899	53226948	A A	ATATATAT others(10): Show ATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0011 a0001c0005t0011	a0001c0005t0011g0045 a0001c0005t0011g0045	1	114	0.0088	17	c.191 others(38): Show c.1911+11352_1911+11353insATATATATATATTTTTT	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	12/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DCC_chr18_52335197_53540899	53313037	A A	AAAGGGAA others(10): Show AAAGGGAAGAAGGGAGGG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02922.hp1 HG03471.hp2 others(1): Show HG00642.hp1 HG02922.hp1 HG03471.hp2 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0001 a0001c0002 a0001c0003 a0002c0001	a0001c0002t0002 a0001c0002t0009 a0001c0003t0032 others(1): Show a0001c0002t0002 a0001c0002t0009 a0001c0003t0032 a0002c0001t0002	a0001c0002t0002g0005 a0001c0002t0009g0049 a0001c0003t0032g0109 others(1): Show a0001c0002t0002g0005 a0001c0002t0009g0049 a0001c0003t0032g0109 a0002c0001t0002g0107	4	114	0.0351	17	c.205 others(36): Show c.2053+7323_2053+7339dupGAAGAAGGGAGGGAAGG	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	13/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DCC_chr18_52335197_53540899	53313050	G G	GAGGGAAG others(10): Show GAGGGAAGGGAAGAAGGA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00597.hp1 others(35): Show HG00099.hp2 HG00280.hp1 HG00597.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG01069.hp1 HG01106.hp1 HG01192.hp2 HG01255.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG02257.hp1 HG02280.hp2 HG02602.hp1 HG02809.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03831.hp1 HG04199.hp2 HG04228.hp2 NA18971.hp1 NA18982.hp2 NA19030.hp1 NA20129.hp2 NA20752.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0006 a0009	a0001c0002 a0001c0003 a0001c0005 others(9): Show a0001c0002 a0001c0003 a0001c0005 a0001c0007 a0002c0004 a0002c0011 a0002c0012 a0002c0018 a0003c0006 a0005c0021 a0006c0019 a0009c0017	a0001c0002t0006 a0001c0003t0001 a0001c0003t0003 others(21): Show a0001c0002t0006 a0001c0003t0001 a0001c0003t0003 a0001c0003t0004 a0001c0003t0012 a0001c0003t0013 a0001c0003t0016 a0001c0003t0020 a0001c0003t0028 a0001c0003t0030 a0001c0005t0007 a0001c0005t0011 a0001c0005t0019 a0001c0007t0003 a0002c0004t0003 a0002c0004t0014 a0002c0004t0017 a0002c0011t0003 a0002c0012t0011 a0002c0018t0004 a0003c0006t0010 a0005c0021t0031 a0006c0019t0005 a0009c0017t0004	a0001c0002t0006g0006 a0001c0002t0006g0021 a0001c0003t0001g0058 others(35): Show a0001c0002t0006g0006 a0001c0002t0006g0021 a0001c0003t0001g0058 a0001c0003t0003g0041 a0001c0003t0003g0097 a0001c0003t0004g0008 a0001c0003t0004g0052 a0001c0003t0004g0057 a0001c0003t0004g0061 a0001c0003t0004g0077 a0001c0003t0004g0092 a0001c0003t0012g0082 a0001c0003t0012g0100 a0001c0003t0013g0075 a0001c0003t0016g0007 a0001c0003t0020g0102 a0001c0003t0028g0076 a0001c0003t0030g0020 a0001c0005t0007g0108 a0001c0005t0007g0114 a0001c0005t0011g0032 a0001c0005t0011g0045 a0001c0005t0019g0105 a0001c0007t0003g0025 a0001c0007t0003g0026 a0001c0007t0003g0035 a0001c0007t0003g0099 a0002c0004t0003g0083 a0002c0004t0014g0043 a0002c0004t0017g0062 a0002c0011t0003g0090 a0002c0012t0011g0037 a0002c0018t0004g0071 a0003c0006t0010g0072 a0003c0006t0010g0111 a0005c0021t0031g0004 a0006c0019t0005g0014 a0009c0017t0004g0110	38	114	0.3333	17	c.205 others(36): Show c.2053+7339_2053+7340insGAAGAAGGAAGGGAAGG	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	13/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DCC_chr18_52335197_53540899	53326767	G G	GAGTGTTT others(10): Show GAGTGTTTGGGAGATCAA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01257.hp1 HG01261.hp2 others(16): Show HG00642.hp2 HG01257.hp1 HG01261.hp2 HG01346.hp2 HG01993.hp2 HG02257.hp2 HG02622.hp1 HG02717.hp1 HG02895.hp1 HG03098.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03831.hp2 NA18966.hp2 NA18979.hp2 NA19043.hp2 NA19057.hp1 NA19065.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0008 others(4): Show a0001c0002 a0001c0003 a0001c0008 a0001c0010 a0001c0023 a0002c0001 a0002c0013	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(14): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0006 a0001c0002t0008 a0001c0002t0016 a0001c0002t0033 a0001c0002t0034 a0001c0003t0008 a0001c0008t0023 a0001c0008t0025 a0001c0008t0026 a0001c0010t0003 a0001c0023t0001 a0002c0001t0005 a0002c0013t0001	a0001c0002t0001g0029 a0001c0002t0002g0038 a0001c0002t0003g0059 others(16): Show a0001c0002t0001g0029 a0001c0002t0002g0038 a0001c0002t0003g0059 a0001c0002t0005g0028 a0001c0002t0005g0050 a0001c0002t0006g0003 a0001c0002t0006g0009 a0001c0002t0008g0039 a0001c0002t0016g0047 a0001c0002t0033g0112 a0001c0002t0034g0091 a0001c0003t0008g0013 a0001c0008t0023g0098 a0001c0008t0025g0086 a0001c0008t0026g0095 a0001c0010t0003g0096 a0001c0023t0001g0106 a0002c0001t0005g0078 a0002c0013t0001g0068	19	114	0.1667	17	c.216 others(36): Show c.2164+4612_2164+4613insTGTTTGGGAGATCAAAG	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	14/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DCDC1_chr11_30858603_31374739	30884033	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01952.hp1 NA19002.hp1 HG01952.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0031 a0001c0001t0001g0003 a0001c0001t0001g0031	2	152	0.0132	17	c.508 others(36): Show c.5083-2726_5083-2725insAAAAAAAAAAAAAAAAA	DCDC1	ENSG00000170959.15	transcript	ENST00000684477.1	protein_coding	36/38			chr11	TogoVar
DCLK1_chr13_35763652_36136382	35838065	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02257.hp2 HG02572.hp1 others(1): Show HG02148.hp1 HG02257.hp2 HG02572.hp1 HG03540.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0019 a0001c0001 a0002c0019	a0001c0001t0005 a0001c0001t0013 a0002c0019t0002 a0001c0001t0005 a0001c0001t0013 a0002c0019t0002	a0001c0001t0005g0214 a0001c0001t0013g0178 a0001c0001t0013g0182 others(1): Show a0001c0001t0005g0214 a0001c0001t0013g0178 a0001c0001t0013g0182 a0002c0019t0002g0167	4	230	0.0174	17	c.112 others(36): Show c.1120+1026_1120+1027insTTTTTTTTTTTTTTTTT	DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	7/16			chr13	TogoVar

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