JoGo: Joint Open Genome and Omics Platform

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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
DACH1_chr13_71432966_71872204	71519883	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02572.hp2 NA19030.hp2 HG01346.hp2 HG02572.hp2 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0001c0001t0006 a0002c0002t0004 a0001c0001t0004 a0001c0001t0006 a0002c0002t0004	a0001c0001t0004g0038 a0001c0001t0006g0001 a0002c0002t0004g0074 a0001c0001t0004g0038 a0001c0001t0006g0001 a0002c0002t0004g0074	3	102	0.0294	30	c.157 others(51): Show c.1571-30736_1571-30735insTATATATATATATATATATATATA TATATA		DACH1	ENSG00000276644.5	transcript	ENST00000613252.5	protein_coding	6/10						chr13	TogoVar
DACH1_chr13_71432966_71872204	71654443	A A	ATAAAATA others(23): Show ATAAAATAAAATAAAATAAAATAAAATAAAG	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0078 a0002c0002t0001g0078	1	102	0.0098	30	c.965 others(49): Show c.965-23727_965-23726insCTTTATTTTATTTTATTTTATTTTAT TTTA		DACH1	ENSG00000276644.5	transcript	ENST00000613252.5	protein_coding	2/10						chr13	TogoVar
DACH1_chr13_71432966_71872204	71735565	T T	TATATGGG others(23): Show TATATGGGATATACGTGTATATGGGATATAC	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0015 a0001c0001t0007g0015	1	102	0.0098	30	c.849 others(49): Show c.849-53656_849-53655insGTATATCCCATATACACGTATATCCC ATAT		DACH1	ENSG00000276644.5	transcript	ENST00000613252.5	protein_coding	1/10						chr13	TogoVar
DACH2_chrX_86143451_86837602	86180176	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03579.hp1 NA20805.hp1 HG03579.hp1 NA20805.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0002 a0001c0001 a0003c0002	a0001c0001t0002 a0003c0002t0001 a0001c0001t0002 a0003c0002t0001	a0001c0001t0002g0145 a0003c0002t0001g0013 a0001c0001t0002g0145 a0003c0002t0001g0013	2	166	0.0121	30	c.488 others(49): Show c.488+31070_488+31099dupATATATATATATATATATATATATAT ATAT		DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding	1/11					INFO_REALIGN_3_PRIME	chrX	TogoVar
DACH2_chrX_86143451_86837602	86254777	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	166	0.0060	30	c.488 others(51): Show c.488+105672_488+105673insTATATATATATATATATATATATA TATATA		DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding	1/11					INFO_REALIGN_3_PRIME	chrX	TogoVar
DACH2_chrX_86143451_86837602	86254807	T T	TATATATA others(23): Show TATATATATATATATATAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02451.hp2 HG03209.hp1 HG01884.hp1 HG02451.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0008 a0001c0001t0001g0118 a0001c0001t0001g0119	3	166	0.0181	30	c.488 others(51): Show c.488+105700_488+105701insTATATATATATATATAGAGAGAGA GAGAGA		DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding	1/11					INFO_REALIGN_3_PRIME	chrX	TogoVar
DACH2_chrX_86143451_86837602	86411020	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02602.hp1 HG02818.hp2 others(4): Show HG02056.hp1 HG02602.hp1 HG02818.hp2 HG03041.hp1 NA18612.hp1 NA18982.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0011 a0001c0001t0001g0099 a0001c0001t0001g0141 others(4): Show a0001c0001t0001g0011 a0001c0001t0001g0099 a0001c0001t0001g0141 a0001c0001t0002g0061 a0001c0001t0002g0095 a0001c0001t0002g0102 a0001c0001t0002g0108	7	166	0.0422	30	c.527 others(49): Show c.527+34177_527+34178insATATATATATATATATATATATATAT ATAT		DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding	2/11					INFO_REALIGN_3_PRIME	chrX	TogoVar
DACH2_chrX_86143451_86837602	86411036	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0013 a0003c0002t0001g0013	1	166	0.0060	30	c.527 others(49): Show c.527+34177_527+34178insATATATATATATATATATATATATAT GTAT		DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding	2/11					INFO_REALIGN_3_PRIME	chrX	TogoVar
DACH2_chrX_86143451_86837602	86429535	A A	ATTTCTTT others(23): Show ATTTCTTTTCTTTTCTTTTCTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG00423.hp2 NA19068.hp1 HG00423.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0091 a0001c0001t0001g0049 a0001c0001t0001g0091	2	166	0.0121	30	c.527 others(49): Show c.527+52682_527+52711dupCTTTTCTTTTCTTTTCTTTTCTTTTC TTTT		DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding	2/11					INFO_REALIGN_3_PRIME	chrX	TogoVar
DACH2_chrX_86143451_86837602	86546357	C C	CTCTTCTT others(23): Show CTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02965.hp1 NA19007.hp1 others(2): Show HG00423.hp1 HG02965.hp1 NA19007.hp1 NA19079.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0030 a0001c0001t0002g0045 a0001c0001t0002g0066 others(2): Show a0001c0001t0002g0030 a0001c0001t0002g0045 a0001c0001t0002g0066 a0001c0001t0002g0073 a0001c0001t0002g0161	5	166	0.0301	30	c.640 others(49): Show c.640+31984_640+32013dupTTCTTCTTCTTCTTCTTCTTCTTCTT CTTC		DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding	3/11					INFO_REALIGN_3_PRIME	chrX	TogoVar
DACH2_chrX_86143451_86837602	86546404	C C	CTTCTTCT others(23): Show CTTCTTCTTCTTCTTCTTCTTCTTCCTTCTT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	166	0.0060	30	c.640 others(49): Show c.640+32013_640+32014insTTCTTCTTCTTCTTCTTCTTCTTCCT TCTT		DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding	3/11						chrX	TogoVar
DACH2_chrX_86143451_86837602	86546404	C C	CTTCTTCT others(23): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCCTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	166	0.0060	30	c.640 others(49): Show c.640+32013_640+32014insTTCTTCTTCTTCTTCTTCTTCTTCTT CCTT		DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding	3/11						chrX	TogoVar
DACH2_chrX_86143451_86837602	86593398	T T	TTTTTATT others(23): Show TTTTTATTTTATTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02622.hp1 HG02818.hp1 others(1): Show HG02145.hp1 HG02622.hp1 HG02818.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0023 a0001c0001t0001g0107 others(1): Show a0001c0001t0001g0008 a0001c0001t0001g0023 a0001c0001t0001g0107 a0001c0001t0001g0136	4	166	0.0241	30	c.641 others(49): Show c.641-57623_641-57594dupATTTTATTTTATTTTATTTTATTTTA TTTT		DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding	3/11					INFO_REALIGN_3_PRIME	chrX	TogoVar
DACH2_chrX_86143451_86837602	86707912	T T	TAAAAAAA others(23): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 NA18995.hp1 HG02572.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0072 a0001c0001t0001g0024 a0001c0001t0001g0072	2	166	0.0121	30	c.932 others(47): Show c.932-6618_932-6617insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA		DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding	5/11					INFO_REALIGN_3_PRIME	chrX	TogoVar
DACT2_chr6_168301904_168324777	168311551	T T	TACACACA others(23): Show TACACACACACACAAACACACACACCCATAC	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG04199.hp2 HG02738.hp2 HG04199.hp2	a0003 a0025 a0003 a0025	a0003c0004 a0025c0037 a0003c0004 a0025c0037	a0003c0004t0004 a0025c0037t0003 a0003c0004t0004 a0025c0037t0003	a0003c0004t0004g0071 a0025c0037t0003g0182 a0003c0004t0004g0071 a0025c0037t0003g0182	2	476	0.0042	30	c.247 others(45): Show c.247-268_247-267insGTATGGGTGTGTGTGTTTGTGTGTGTGTGT		DACT2	ENSG00000164488.12	transcript	ENST00000366795.4	protein_coding	1/3						chr6	TogoVar
DACT2_chr6_168301904_168324777	168321925	C C	CCTTCTCC others(23): Show CCTTCTCCTTCTCCTTCTCCTTCTTCTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0088 a0001c0001t0002g0088	1	476	0.0021	30	c.-22 others(41): Show c.-2293_-2292insAAGAAGAAGAAGGAGAAGGAGAAGGAGAAG		DACT2	ENSG00000164488.12	transcript	ENST00000366795.4	protein_coding					2149		chr6	TogoVar
DACT2_chr6_168301904_168324777	168321925	C C	CCTTCTTC others(23): Show CCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0309 a0002c0003t0006g0309	1	476	0.0021	30	c.-22 others(41): Show c.-2293_-2292insAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG		DACT2	ENSG00000164488.12	transcript	ENST00000366795.4	protein_coding					2149		chr6	TogoVar
DAGLB_chr7_6404129_6452954	6430250	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01952.hp2 HG02293.hp2 others(8): Show HG00673.hp2 HG01952.hp2 HG02293.hp2 HG02647.hp1 NA18957.hp2 NA18968.hp1 NA19055.hp2 NA19063.hp2 NA19074.hp2 NA19088.hp1 NA19091.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0015 others(1): Show a0001c0001 a0001c0002 a0001c0015 a0002c0003	a0001c0001t0006 a0001c0002t0002 a0001c0015t0002 others(1): Show a0001c0001t0006 a0001c0002t0002 a0001c0015t0002 a0002c0003t0007	a0001c0001t0006g0371 a0001c0002t0002g0104 a0001c0002t0002g0108 others(8): Show a0001c0001t0006g0371 a0001c0002t0002g0104 a0001c0002t0002g0108 a0001c0002t0002g0113 a0001c0002t0002g0128 a0001c0002t0002g0129 a0001c0002t0002g0165 a0001c0015t0002g0166 a0002c0003t0007g0007 a0002c0003t0007g0008 a0002c0003t0007g0009	11	380	0.0290	30	c.929 others(45): Show c.929+200_929+229dupATATATATATATATATATATATATATATAT		DAGLB	ENSG00000164535.15	transcript	ENST00000297056.11	protein_coding	6/14						chr7	TogoVar
DAOA_chr13_105461045_105496034	105493422	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTCTATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02300.hp1 NA18986.hp1 HG02300.hp1 NA18986.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0001 a0001c0001t0003 a0002c0002t0001	a0001c0001t0003g0071 a0002c0002t0001g0001 a0001c0001t0003g0071 a0002c0002t0001g0001	2	412	0.0049	30	c.26 others(41): Show c.2622_*2623insTCTCTCTCTCTCTATATATATATATATATA		DAOA	ENSG00000182346.22	transcript	ENST00000375936.9	protein_coding					2389		chr13	TogoVar
DAOA_chr13_105461045_105496034	105493422	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0249 a0001c0001t0001g0249	1	412	0.0024	30	c.26 others(41): Show c.2622_*2623insTCTCTCTCTCTCTCTATATATATATATATA		DAOA	ENSG00000182346.22	transcript	ENST00000375936.9	protein_coding					2389		chr13	TogoVar
DAOA_chr13_105461045_105496034	105493422	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTCTATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0250	1	412	0.0024	30	c.26 others(41): Show c.2622_*2623insTCTCTCTCTCTCTCTCTATATATATATATA		DAOA	ENSG00000182346.22	transcript	ENST00000375936.9	protein_coding					2389		chr13	TogoVar
DAOA_chr13_105461045_105496034	105493422	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTCTCTCTATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0164 a0002c0002t0001g0164	1	412	0.0024	30	c.26 others(41): Show c.2622_*2623insTCTCTCTCTCTCTCTCTCTCTATATATATA		DAOA	ENSG00000182346.22	transcript	ENST00000375936.9	protein_coding					2389		chr13	TogoVar
DAPK1_chr9_87492867_87713634	87571497	C C	CCCAACAC others(23): Show CCCAACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02109.hp2 HG02886.hp1 others(4): Show HG00741.hp2 HG02109.hp2 HG02886.hp1 HG02895.hp1 HG03209.hp1 NA18747.hp2 NA18955.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0005 a0001c0038 others(4): Show a0001c0001 a0001c0005 a0001c0038 a0002c0003 a0002c0006 a0003c0007 a0003c0012	a0001c0001t0005 a0001c0005t0001 a0001c0038t0001 others(4): Show a0001c0001t0005 a0001c0005t0001 a0001c0038t0001 a0002c0003t0002 a0002c0006t0001 a0003c0007t0002 a0003c0012t0002	a0001c0001t0005g0183 a0001c0005t0001g0053 a0001c0038t0001g0010 others(4): Show a0001c0001t0005g0183 a0001c0005t0001g0053 a0001c0038t0001g0010 a0002c0003t0002g0197 a0002c0006t0001g0159 a0003c0007t0002g0107 a0003c0012t0002g0212	7	236	0.0297	30	c.63- others(47): Show c.63-33457_63-33456insCCAACACACACACACACACACACACACA CA		DAPK1	ENSG00000196730.13	transcript	ENST00000408954.8	protein_coding	2/25						chr9	TogoVar
DAPK1_chr9_87492867_87713634	87571498	A A	AACACACA others(23): Show AACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02970.hp2 HG02809.hp2 HG02970.hp2	a0001 a0004 a0001 a0004	a0001c0019 a0004c0018 a0001c0019 a0004c0018	a0001c0019t0001 a0004c0018t0001 a0001c0019t0001 a0004c0018t0001	a0001c0019t0001g0195 a0004c0018t0001g0156 a0001c0019t0001g0195 a0004c0018t0001g0156	2	236	0.0085	30	c.63- others(47): Show c.63-33455_63-33426dupACACACACACACACACACACACACACAC AC		DAPK1	ENSG00000196730.13	transcript	ENST00000408954.8	protein_coding	2/25					INFO_REALIGN_3_PRIME	chr9	TogoVar
DAPK1_chr9_87492867_87713634	87571502	C C	CACACACA others(23): Show CACACACACACACACACACACACACACCCCA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0049 a0001c0002t0001g0049	1	236	0.0042	30	c.63- others(47): Show c.63-33425_63-33424insCCAACACACACACACACACACACACACA CC		DAPK1	ENSG00000196730.13	transcript	ENST00000408954.8	protein_coding	2/25					INFO_REALIGN_3_PRIME	chr9	TogoVar
DAPK1_chr9_87492867_87713634	87662560	G G	GTTTTTTT others(23): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	236	0.0042	30	c.192 others(49): Show c.1923+4458_1923+4459insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT		DAPK1	ENSG00000196730.13	transcript	ENST00000408954.8	protein_coding	18/25					INFO_REALIGN_3_PRIME	chr9	TogoVar
DAP_chr5_10674230_10766234	10761385	C C	CCGAGGGC others(23): Show CCGAGGGCGGGGGCGGGGGCGGGGGCGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 HG01168.hp2 HG01975.hp2 others(7): Show HG00609.hp2 HG01168.hp2 HG01975.hp2 HG02145.hp2 HG02523.hp2 NA18943.hp2 NA18944.hp1 NA18997.hp1 NA19064.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0012	a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0062 others(7): Show a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0062 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0080 a0001c0001t0005g0034 a0001c0001t0012g0084	10	372	0.0269	30	c.-31 others(39): Show c.-318_-317insCCCCCGCCCCCGCCCCCGCCCCCGCCCTCG		DAP	ENSG00000112977.16	transcript	ENST00000230895.11	protein_coding					152		chr5	TogoVar
DAW1_chr2_227866631_227929344	227868009	G G	GTTTTTTT others(23): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0314 a0001c0003t0002g0314	1	340	0.0029	30	c.-36 others(41): Show c.-3681_-3680insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT		DAW1	ENSG00000123977.10	transcript	ENST00000309931.3	protein_coding					3621		chr2	TogoVar
DAZAP1_chr19_1402586_1440684	1407619	A A	AGCCGCCG others(23): Show AGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0241 a0001c0001t0030g0241	1	374	0.0027	30	c.-14 others(39): Show c.-141_-112dupCCGCCGCCGCCGCCGCCGCCGCCGCCGCCG		DAZAP1	ENSG00000071626.17	transcript	ENST00000233078.9	protein_coding	1/12				111	INFO_REALIGN_3_PRIME	chr19	TogoVar
DAZL_chr3_16581792_16610423	16609596	G G	GTGTGTGT others(23): Show GTGTGTGTGTGTGTGTGTATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	446	0.0022	30	c.-43 others(41): Show c.-4392_-4391insTATATATATATATACACACACACACACACA		DAZL	ENSG00000092345.14	transcript	ENST00000399444.7	protein_coding					4174		chr3	TogoVar
DAZL_chr3_16581792_16610423	16609596	G G	GTGTGTGT others(23): Show GTGTGTGTGTGTGTGTGTGTGTATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02647.hp1 HG02922.hp2 others(3): Show HG02572.hp2 HG02647.hp1 HG02922.hp2 HG03486.hp2 HG03516.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0023 a0001c0001t0001g0039 others(1): Show a0001c0001t0001g0012 a0001c0001t0001g0023 a0001c0001t0001g0039 a0001c0001t0001g0064	6	446	0.0135	30	c.-43 others(41): Show c.-4392_-4391insTATATATATACACACACACACACACACACA		DAZL	ENSG00000092345.14	transcript	ENST00000399444.7	protein_coding					4174		chr3	TogoVar
DAZL_chr3_16581792_16610423	16609596	G G	GTGTGTGT others(23): Show GTGTGTGTGTGTGTGTGTGTGTGTATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp1 NA18906.hp2 HG02165.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0023 a0001c0001t0001g0012 a0001c0001t0001g0023	2	446	0.0045	30	c.-43 others(41): Show c.-4392_-4391insTATATATACACACACACACACACACACACA		DAZL	ENSG00000092345.14	transcript	ENST00000399444.7	protein_coding					4174		chr3	TogoVar
DAZL_chr3_16581792_16610423	16609596	G G	GTGTGTGT others(23): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02630.hp1 HG03195.hp1 others(1): Show HG02258.hp1 HG02630.hp1 HG03195.hp1 HG03579.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0018 a0001c0003t0001g0018	4	446	0.0090	30	c.-43 others(41): Show c.-4392_-4391insTATACACACACACACACACACACACACACA		DAZL	ENSG00000092345.14	transcript	ENST00000399444.7	protein_coding					4174		chr3	TogoVar
DAZL_chr3_16581792_16610423	16609596	G G	GTGTGTGT others(23): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	446	0.0022	30	c.-43 others(41): Show c.-4392_-4391insTACACACACACACACACACACACACACACA		DAZL	ENSG00000092345.14	transcript	ENST00000399444.7	protein_coding					4174		chr3	TogoVar
DBF4B_chr17_44703665_44757264	44725684	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01071.hp2 HG01099.hp2 others(8): Show HG00323.hp1 HG01071.hp2 HG01099.hp2 HG01168.hp1 HG01175.hp1 HG01261.hp1 HG01358.hp1 HG01433.hp1 HG02559.hp2 NA18952.hp1 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0002g0024 others(8): Show a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0002g0024 a0001c0001t0002g0026 a0001c0001t0002g0031 a0001c0001t0002g0034 a0001c0001t0002g0040 a0001c0001t0002g0044 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0051	11	288	0.0382	30	c.225 others(47): Show c.225+2682_225+2683insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT		DBF4B	ENSG00000161692.18	transcript	ENST00000315005.8	protein_coding	3/13					INFO_REALIGN_3_PRIME	chr17	TogoVar
DBH_chr9_133631363_133664329	133657426	A A	AGAGAGGA others(23): Show AGAGAGGAGAGAGAGGAGAGAGAGGAGAGAG	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0286 a0001c0001t0001g0286	1	402	0.0025	30	c.172 others(47): Show c.1722+202_1722+203insGAGAGAGAGGAGAGAGAGGAGAGAGGAG AG		DBH	ENSG00000123454.12	transcript	ENST00000393056.8	protein_coding	11/11					INFO_REALIGN_3_PRIME	chr9	TogoVar
DCAF10_chr9_37795797_37872664	37808642	A A	ATATATTA others(23): Show ATATATTATATAATATAAAATATAAATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02965.hp2 HG03239.hp1 others(1): Show HG02622.hp1 HG02965.hp2 HG03239.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0053 a0001c0001t0002 a0001c0001t0004 a0001c0001t0053	a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0004g0239 others(1): Show a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0004g0239 a0001c0001t0053g0240	4	356	0.0112	30	c.539 others(47): Show c.539+7242_539+7243insTATATAATATAAAATATAAATATATTAT AT		DCAF10	ENSG00000122741.16	transcript	ENST00000377724.8	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr9	TogoVar
DCAF5_chr14_69045881_69158119	69105914	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02257.hp2 HG02630.hp2 others(3): Show HG01261.hp1 HG02257.hp2 HG02630.hp2 HG03710.hp2 NA19080.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0019 a0001c0001t0002 a0001c0001t0003 a0001c0001t0019	a0001c0001t0002g0068 a0001c0001t0003g0036 a0001c0001t0003g0050 others(3): Show a0001c0001t0002g0068 a0001c0001t0003g0036 a0001c0001t0003g0050 a0001c0001t0003g0057 a0001c0001t0003g0062 a0001c0001t0019g0240	6	244	0.0246	30	c.665 others(49): Show c.665+10422_665+10451dupATATATATATATATATATATATATAT ATAT		DCAF5	ENSG00000139990.18	transcript	ENST00000341516.10	protein_coding	5/8						chr14	TogoVar
DCAF8L2_chrX_27585344_27754942	27590991	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02040.hp1 NA18942.hp2 HG02040.hp1 NA18942.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0002 a0003c0003t0001 a0002c0002t0002 a0003c0003t0001	a0002c0002t0002g0248 a0003c0003t0001g0247 a0002c0002t0002g0248 a0003c0003t0001g0247	2	262	0.0076	30	c.-34 others(47): Show c.-342+575_-342+576insTATATATATATATATATATATATATATA TA		DCAF8L2	ENSG00000189186.11	transcript	ENST00000451261.7	protein_coding	1/4					INFO_REALIGN_3_PRIME	chrX	TogoVar
DCAF8L2_chrX_27585344_27754942	27606358	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0131 a0002c0002t0002g0131	1	262	0.0038	30	c.-34 others(51): Show c.-342+15942_-342+15943insATATATATATATATATATATATAT ATATAT		DCAF8L2	ENSG00000189186.11	transcript	ENST00000451261.7	protein_coding	1/4					INFO_REALIGN_3_PRIME	chrX	TogoVar
DCAF8L2_chrX_27585344_27754942	27704173	T T	TATATATA others(23): Show TATATATATATATATATATACACACACACAC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0003 a0008c0008t0003	a0008c0008t0003g0076 a0008c0008t0003g0076	1	262	0.0038	30	c.-14 others(51): Show c.-142-11914_-142-11913insTATATATATATATATATACACACA CACACA		DCAF8L2	ENSG00000189186.11	transcript	ENST00000451261.7	protein_coding	3/4					INFO_REALIGN_3_PRIME	chrX	TogoVar
DCAF8L2_chrX_27585344_27754942	27704173	T T	TATATATA others(23): Show TATATATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG03516.hp1 NA18942.hp2 HG03516.hp1 NA18942.hp2	a0002 a0017 a0002 a0017	a0002c0002 a0017c0022 a0002c0002 a0017c0022	a0002c0002t0002 a0017c0022t0001 a0002c0002t0002 a0017c0022t0001	a0002c0002t0002g0248 a0017c0022t0001g0091 a0002c0002t0002g0248 a0017c0022t0001g0091	2	262	0.0076	30	c.-14 others(51): Show c.-142-11914_-142-11913insTATATATATATATATATATATACA CACACA		DCAF8L2	ENSG00000189186.11	transcript	ENST00000451261.7	protein_coding	3/4					INFO_REALIGN_3_PRIME	chrX	TogoVar
DCAF8L2_chrX_27585344_27754942	27704173	T T	TATATATA others(23): Show TATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG06807.hp2 HG02258.hp1 HG06807.hp2	a0013 a0015 a0013 a0015	a0013c0013 a0015c0016 a0013c0013 a0015c0016	a0013c0013t0001 a0015c0016t0004 a0013c0013t0001 a0015c0016t0004	a0013c0013t0001g0090 a0015c0016t0004g0107 a0013c0013t0001g0090 a0015c0016t0004g0107	2	262	0.0076	30	c.-14 others(51): Show c.-142-11914_-142-11913insTATATATATATATATATATATATA CACACA		DCAF8L2	ENSG00000189186.11	transcript	ENST00000451261.7	protein_coding	3/4					INFO_REALIGN_3_PRIME	chrX	TogoVar
DCAF8L2_chrX_27585344_27754942	27704173	T T	TATATATA others(23): Show TATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0096 a0006c0006t0001g0096	1	262	0.0038	30	c.-14 others(51): Show c.-142-11914_-142-11913insTATATATATATATATATATATATA TACACA		DCAF8L2	ENSG00000189186.11	transcript	ENST00000451261.7	protein_coding	3/4					INFO_REALIGN_3_PRIME	chrX	TogoVar
DCBLD1_chr6_117477674_117554797	117540902	A A	ATCCCTCC others(23): Show ATCCCTCCTCTCTCAGGTAATGATTCATTGG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0093 a0001c0002t0002g0093	1	370	0.0027	30	c.125 others(42): Show c.1250-14_1265dupCCCTCCTCTCTCAGGTAATGATTCATTGGT	p.Val others(43): Show p.Val422_Trp423insProProLeuSerGlyAsnAspSerLeuVal	DCBLD1	ENSG00000164465.19	transcript	ENST00000338728.10	protein_coding	11/15	1374/3614	1266/2148	422/715		INFO_REALIGN_3_PRIME	chr6	TogoVar
DCBLD2_chr3_98790941_98906695	98825643	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	330	0.0030	30	c.572 others(45): Show c.572-307_572-278dupTATATATATATATATATATATATATATATA		DCBLD2	ENSG00000057019.16	transcript	ENST00000326840.11	protein_coding	3/15						chr3	TogoVar
DCBLD2_chr3_98790941_98906695	98870737	A A	AAAAGAAA others(23): Show AAAAGAAAGAAAGAAAGAAAGAAAGAGAAAG	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0007 a0003c0006t0007	a0003c0006t0007g0168 a0003c0006t0007g0168	1	330	0.0030	30	c.433 others(49): Show c.433+10802_433+10803insCTTTCTCTTTCTTTCTTTCTTTCTTT CTTT		DCBLD2	ENSG00000057019.16	transcript	ENST00000326840.11	protein_coding	2/15						chr3	TogoVar
DCBLD2_chr3_98790941_98906695	98870806	A A	AAAGAAAG others(23): Show AAAGAAAGAAAGAAAGAAAAAGAAAGAAAGG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0094 a0001c0002t0005g0094	1	330	0.0030	30	c.433 others(49): Show c.433+10733_433+10734insCCTTTCTTTCTTTTTCTTTCTTTCTT TCTT		DCBLD2	ENSG00000057019.16	transcript	ENST00000326840.11	protein_coding	2/15						chr3	TogoVar
DCC_chr18_52335197_53540899	52515606	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG04199.hp1 HG02922.hp2 HG04199.hp1	a0002 a0003 a0002 a0003	a0002c0001 a0003c0006 a0002c0001 a0003c0006	a0002c0001t0002 a0003c0006t0010 a0002c0001t0002 a0003c0006t0010	a0002c0001t0002g0089 a0003c0006t0010g0001 a0002c0001t0002g0089 a0003c0006t0010g0001	2	114	0.0175	30	c.91+ others(49): Show c.91+174748_91+174749insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA		DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	1/28					INFO_REALIGN_3_PRIME	chr18	TogoVar
DCC_chr18_52335197_53540899	52798034	C C	CAGGTTGC others(23): Show CAGGTTGCTTGCACGAAGGTTGCTTGCACGA	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG04228.hp2 HG03669.hp2 HG04228.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0012	a0001c0003t0012g0082 a0001c0003t0012g0100 a0001c0003t0012g0082 a0001c0003t0012g0100	2	114	0.0175	30	c.412 others(49): Show c.412+45674_412+45703dupGAAGGTTGCTTGCACGAAGGTTGCTT GCAC		DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	2/28					INFO_REALIGN_3_PRIME	chr18	TogoVar

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