Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
DDX51_chr12_132131594_132149319	132149300	C C	CGCCGCCT others(34): Show CGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0004 a0002c0002t0004g0004	1	334	0.0030	41	c.-50 others(52): Show c.-5005_-5004insACTCACCGAGGGGATTAGGGGTGTGGTGTGAGTG AGGCGGC	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		4982		chr12	TogoVar
DEFB136_chr8_11968937_11979599	11979486	G G	GGAAGTTT others(34): Show GGAAGTTTAAAAGAGGAACTGAGATTGCATATATAAATTTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0001 a0001c0001t0000g0001	1	426	0.0024	41	c.-48 others(52): Show c.-4888_-4887insTAAAATTTATATATGCAATCTCAGTTCCTCTTTT AAACTTC	DEFB136	ENSG00000205884.2	transcript	ENST00000382209.2	protein_coding		4888		chr8	TogoVar
DENND5A_chr11_9133825_9270350	9199059	A A	AAAAAAAA others(34): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0151 a0002c0002t0001g0151	1	284	0.0035	41	c.949 others(58): Show c.949+4600_949+4601insATTATTATTATTTTTTTTTTTTTTTTTT TTTTTTTTTTTTT	DENND5A	ENSG00000184014.9	transcript	ENST00000328194.8	protein_coding	4/22			chr11	TogoVar
DENND6B_chr22_50304030_50332012	50317077	G G	GGCGAGGA others(34): Show GGCGAGGACGGGGGGGGGGCGGCGAGGACAGGGCGGGGGGCC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02622.hp1 HG02965.hp1 others(3): Show HG02572.hp2 HG02622.hp1 HG02965.hp1 HG03041.hp1 NA19043.hp2 NA20129.hp1	a0003 a0003	a0003c0007 a0003c0014 a0003c0007 a0003c0014	a0003c0007t0007 a0003c0007t0013 a0003c0007t0028 others(1): Show a0003c0007t0007 a0003c0007t0013 a0003c0007t0028 a0003c0014t0049	a0003c0007t0007g0019 a0003c0007t0007g0020 a0003c0007t0007g0021 others(3): Show a0003c0007t0007g0019 a0003c0007t0007g0020 a0003c0007t0007g0021 a0003c0007t0013g0274 a0003c0007t0028g0273 a0003c0014t0049g0146	6	326	0.0184	41	c.453 others(56): Show c.453+215_453+216insGGCCCCCCGCCCTGTCCTCGCCGCCCCCCC CCCGTCCTCGC	DENND6B	ENSG00000205593.12	transcript	ENST00000413817.8	protein_coding	5/19			chr22	TogoVar
DENND6B_chr22_50304030_50332012	50317077	G G	GGCGAGGA others(34): Show GGCGAGGACGGGGGGGGGGCGGTGAGGACAGGGCGGGGGGCC	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0007 a0003c0007t0007	a0003c0007t0007g0018 a0003c0007t0007g0018	1	326	0.0031	41	c.453 others(56): Show c.453+215_453+216insGGCCCCCCGCCCTGTCCTCACCGCCCCCCC CCCGTCCTCGC	DENND6B	ENSG00000205593.12	transcript	ENST00000413817.8	protein_coding	5/19			chr22	TogoVar
DESI1_chr22_41593028_41626043	41594335	G G	GGGTGGGG others(34): Show GGGTGGGGGGGTGGGGGAGGCGGTGGGGGGGGTGGGGGAGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG03130.hp2 HG01069.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0154 a0001c0001t0001g0054 a0001c0001t0001g0154	2	308	0.0065	41	c.67 others(52): Show c.6761_*6762insGCCTCCCCCACCCCCCCCACCGCCTCCCCCACCC CCCCACC	DESI1	ENSG00000100418.8	transcript	ENST00000263256.7	protein_coding		3692		chr22	TogoVar
DESI1_chr22_41593028_41626043	41594338	T T	TGGGGGGG others(34): Show TGGGGGGGGTGGGGGAGGCGGTGGGGGGGTGGGGGAGGCGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp2 HG02280.hp2 HG02683.hp1 others(2): Show HG02165.hp2 HG02280.hp2 HG02683.hp1 HG03490.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0017	a0001c0001t0001g0002 a0001c0001t0001g0111 a0001c0001t0002g0057 others(2): Show a0001c0001t0001g0002 a0001c0001t0001g0111 a0001c0001t0002g0057 a0001c0001t0007g0026 a0001c0001t0017g0144	5	308	0.0162	41	c.67 others(52): Show c.6758_*6759insACCGCCTCCCCCACCCCCCCACCGCCTCCCCCAC CCCCCCC	DESI1	ENSG00000100418.8	transcript	ENST00000263256.7	protein_coding		3689		chr22	TogoVar
DESI1_chr22_41593028_41626043	41594338	T T	TGGGGGGG others(34): Show TGGGGGGGTGGGGGAGGCGGTGGGGGGGTGGGGGAGGCGGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	308	0.0033	41	c.67 others(52): Show c.6758_*6759insCACCGCCTCCCCCACCCCCCCACCGCCTCCCCCA CCCCCCC	DESI1	ENSG00000100418.8	transcript	ENST00000263256.7	protein_coding		3689		chr22	TogoVar
DESI1_chr22_41593028_41626043	41594338	T T	TGGGGGGG others(34): Show TGGGGGGGTGGGGGGGCGGTGGGGGGGGTGGGGGAGGCGGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0060 a0001c0001t0002g0060	1	308	0.0033	41	c.67 others(52): Show c.6758_*6759insCACCGCCTCCCCCACCCCCCCCACCGCCCCCCCA CCCCCCC	DESI1	ENSG00000100418.8	transcript	ENST00000263256.7	protein_coding		3689		chr22	TogoVar
DESI1_chr22_41593028_41626043	41594358	T T	TGGGGGGG others(34): Show TGGGGGGGTGGGGGAGGCGGTGGGGGGGTGGGGGAGGCGGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG01884.hp1 HG03017.hp2 HG00423.hp1 HG01884.hp1 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0023 a0001c0001t0001g0118 a0001c0001t0002g0072 a0001c0001t0001g0023 a0001c0001t0001g0118 a0001c0001t0002g0072	3	308	0.0097	41	c.67 others(52): Show c.6738_*6739insCACCGCCTCCCCCACCCCCCCACCGCCTCCCCCA CCCCCCC	DESI1	ENSG00000100418.8	transcript	ENST00000263256.7	protein_coding		3669		chr22	TogoVar
DESI1_chr22_41593028_41626043	41594378	T T	TGGGGGGG others(34): Show TGGGGGGGTGGGGGAGGCGGTGGGGGGGTGGGGGAGGCGGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp2 NA18990.hp2 NA20805.hp2 HG02602.hp2 NA18990.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0001 a0001c0001t0002g0016 a0001c0001t0007g0135 a0001c0001t0002g0001 a0001c0001t0002g0016 a0001c0001t0007g0135	3	308	0.0097	41	c.67 others(52): Show c.6718_*6719insCACCGCCTCCCCCACCCCCCCACCGCCTCCCCCA CCCCCCC	DESI1	ENSG00000100418.8	transcript	ENST00000263256.7	protein_coding		3649		chr22	TogoVar
DESI1_chr22_41593028_41626043	41594391	G G	GAGGCGGT others(34): Show GAGGCGGTGGGGGGGTGGGGGAGGCGGTGGGGGGGTGGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0116 a0001c0001t0007g0116	1	308	0.0033	41	c.67 others(52): Show c.6705_*6706insACCCCCACCCCCCCACCGCCTCCCCCACCCCCCC ACCGCCT	DESI1	ENSG00000100418.8	transcript	ENST00000263256.7	protein_coding		3636		chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGTG others(34): Show TGTGTGTGTGTGTGTGTGCGCGCGCAGCGCGCGCGCGCACGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	1	392	0.0026	41	c.-28 others(52): Show c.-2845_-2844insGCGTGCGCGCGCGCGCTGCGCGCGCACACACACA CACACAC	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2773		chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGTG others(34): Show TGTGTGTGTGTGTGTGTGCGCGCGCGCTGCGCGCGCGCATGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0024	1	392	0.0026	41	c.-28 others(52): Show c.-2845_-2844insGCATGCGCGCGCGCAGCGCGCGCGCACACACACA CACACAC	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2773		chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGTG others(34): Show TGTGTGTGTGTGTGTGTGTGCGCGCGCGCGGCGCGCGCACGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	392	0.0026	41	c.-28 others(52): Show c.-2845_-2844insGCGTGCGCGCGCCGCGCGCGCGCACACACACACA CACACAC	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2773		chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGTG others(34): Show TGTGTGTGTGTGTGTGTGTGTGCGCGCAGCGCGCGCGCATGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	392	0.0026	41	c.-28 others(52): Show c.-2845_-2844insGCATGCGCGCGCGCTGCGCGCACACACACACACA CACACAC	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2773		chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGTG others(34): Show TGTGTGTGTGTGTGTGTGTGTGTGCGCGCGCTGCGCGCATGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	392	0.0026	41	c.-28 others(52): Show c.-2845_-2844insGCATGCGCGCAGCGCGCGCACACACACACACACA CACACAC	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2773		chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGTG others(34): Show TGTGTGTGTGTGTGTGTGTGTGTGCGCGCTGCGCGCGCATGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	392	0.0026	41	c.-28 others(52): Show c.-2845_-2844insGCATGCGCGCGCAGCGCGCACACACACACACACA CACACAC	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2773		chr22	TogoVar
DGKB_chr7_14140049_14907751	14211575	T T	TTTTACTC others(34): Show TTTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGA	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0048 a0001c0001t0002g0048	1	148	0.0068	41	c.212 others(62): Show c.2123-33425_2123-33424insTCACAAAACATGAGAGTAAAATCA CAAAACATGAGAGTAAA	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14567304	T T	TTATATAT others(34): Show TTATATATAATTATATTATATATATAATATATTTATATATTA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03139.hp1 NA20300.hp1 HG02622.hp2 HG03139.hp1 NA20300.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0003 a0001c0003t0018 a0001c0003t0001 a0001c0003t0003 a0001c0003t0018	a0001c0003t0001g0054 a0001c0003t0003g0094 a0001c0003t0018g0061 a0001c0003t0001g0054 a0001c0003t0003g0094 a0001c0003t0018g0061	3	148	0.0203	41	c.177 others(60): Show c.1770+6907_1770+6908insTAATATATAAATATATTATATATATA ATATAATTATATATA	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	20/25			chr7	TogoVar
DGKH_chr13_42043648_42247896	42049101	A A	ATGGTGAG others(34): Show ATGGTGAGACGGTGAGGCGGGGCGGGGCCTGGGGCGCGGGCG	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0020 a0001c0004t0020	a0001c0004t0020g0313 a0001c0004t0020g0313	1	316	0.0032	41	c.192 others(56): Show c.192+136_192+137insTGGTGAGACGGTGAGGCGGGGCGGGGCCTG GGGCGCGGGCG	DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	1/29			chr13	TogoVar
DGKI_chr7_137376037_137851974	137618151	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0058 a0001c0005t0004g0058	1	94	0.0106	41	c.993 others(58): Show c.993+1672_993+1673insAAATATATATATATATATATATATATAT ATATATATATATA	DGKI	ENSG00000157680.17	transcript	ENST00000614521.2	protein_coding	8/32			chr7	TogoVar
DGKI_chr7_137376037_137851974	137618151	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0005 a0001c0019t0005	a0001c0019t0005g0090 a0001c0019t0005g0090	1	94	0.0106	41	c.993 others(58): Show c.993+1672_993+1673insAAAAATATATATATATATATATATATAT ATATATATATATA	DGKI	ENSG00000157680.17	transcript	ENST00000614521.2	protein_coding	8/32			chr7	TogoVar
DGKI_chr7_137376037_137851974	137618151	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0015 a0001c0008t0015	a0001c0008t0015g0022 a0001c0008t0015g0022	1	94	0.0106	41	c.993 others(58): Show c.993+1672_993+1673insAAAAAAATATATATATATATATATATAT ATATATATATATA	DGKI	ENSG00000157680.17	transcript	ENST00000614521.2	protein_coding	8/32			chr7	TogoVar
DGKK_chrX_50360409_50475825	50447331	T T	TATATATA others(34): Show TATATATATATATTATATATATATATATTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG03490.hp1 HG04204.hp1 HG02683.hp2 HG03490.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0117 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0117	3	248	0.0121	41	c.645 others(60): Show c.645+22702_645+22703insTATATATATATATAATATATATATAT ATAATATATATATAT	DGKK	ENSG00000274588.2	transcript	ENST00000611977.2	protein_coding	1/27			chrX	TogoVar
DHRS12_chr13_51762993_51809163	51774899	A A	AGTATTCT others(34): Show AGTATTCTCCTACATGTATTCTCCTACAGTATTCTCCTACAT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02965.hp2 HG03139.hp2 HG02818.hp1 HG02965.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0133	3	420	0.0071	41	c.364 others(56): Show c.364-866_364-865insATGTAGGAGAATACTGTAGGAGAATACATG TAGGAGAATAC	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
DHRS12_chr13_51762993_51809163	51775174	A A	AGTATTCT others(34): Show AGTATTCTCCTACATGTATTCTCCTACAGTATTCTCCTACAT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03139.hp2 HG03225.hp1 others(1): Show HG02630.hp1 HG03139.hp2 HG03225.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 others(1): Show a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134	4	420	0.0095	41	c.364 others(58): Show c.364-1141_364-1140insATGTAGGAGAATACTGTAGGAGAATACA TGTAGGAGAATAC	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
DHRS2_chr14_23631364_23650639	23636029	G G	GGTTTGTA others(34): Show GGTTTGTAAATGCACCAATCAGCACTCTGTGTCTAGCTAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0025 a0005c0009t0025	a0005c0009t0025g0028 a0005c0009t0025g0028	1	446	0.0022	41	c.-78 others(50): Show c.-782_-781insGTTTGTAAATGCACCAATCAGCACTCTGTGTCTAGC TAAAA	DHRS2	ENSG00000100867.15	transcript	ENST00000250383.11	protein_coding		334		chr14	TogoVar
DHRSX_chrX_2214506_2505976	2228034	A A	AAGGGGAG others(34): Show AAGGGGAGGGAGGGAGGGAGGGGGGAAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0043 a0003c0003t0002g0043	1	50	0.0200	41	c.805 others(58): Show c.805-6806_805-6805insCCCTCCCTCCCTCCCTTCCCCCCTCCCT CCCTCCCTCCCCT	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	6/6			chrX	TogoVar
DHRSX_chrX_2214506_2505976	2314352	G G	GGAGGGAG others(34): Show GGAGGGAGGGAGGGAAGGAGGGAGGGAGGGAGGGAAGGGAGA	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	50	0.0200	41	c.287 others(60): Show c.287-22750_287-22749insTCTCCCTTCCCTCCCTCCCTCCCTCC TTCCCTCCCTCCCTC	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	3/6			chrX	TogoVar
DHRSX_chrX_2214506_2505976	2314488	A A	AGGAAGGG others(34): Show AGGAAGGGGAGAAGGAAGGGAGGAAGGAAGGGAGAGGGAAGG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	50	0.0200	41	c.287 others(60): Show c.287-22886_287-22885insCCTTCCCTCTCCCTTCCTTCCTCCCT TCCTTCTCCCCTTCC	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	3/6			chrX	TogoVar
DIAPH2_chrX_96679842_97609997	96939668	A A	ATTTTTTT others(34): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0011	1	147	0.0068	41	c.132 others(58): Show c.1325+300_1325+301insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	12/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH3_chr13_59660583_60168928	59993702	T T	TAAAAAAA others(34): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0048 a0002c0004t0001g0048	1	208	0.0048	41	c.101 others(60): Show c.1015-1120_1015-1119insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTT	DIAPH3	ENSG00000139734.19	transcript	ENST00000400324.9	protein_coding	9/27			chr13	TogoVar
DIAPH3_chr13_59660583_60168928	60156939	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01952.hp1 HG01993.hp2 HG01928.hp1 HG01952.hp1 HG01993.hp2	a0002 a0002	a0002c0004 a0002c0009 a0002c0004 a0002c0009	a0002c0004t0001 a0002c0009t0001 a0002c0004t0001 a0002c0009t0001	a0002c0004t0001g0042 a0002c0004t0001g0051 a0002c0009t0001g0043 a0002c0004t0001g0042 a0002c0004t0001g0051 a0002c0009t0001g0043	3	208	0.0144	41	c.180 others(58): Show c.180+6647_180+6648insAAAAAAAAATATATATATATATATATAT ATATATATATATA	DIAPH3	ENSG00000139734.19	transcript	ENST00000400324.9	protein_coding	1/27			chr13	TogoVar
DIP2B_chr12_50499985_50753657	50598827	C C	CCCCCCCC others(34): Show CCCCCCCCCTCCCCCTCCCCCTCCCCTCTCCCCCTCCCCTCT	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0127 a0001c0002t0003g0127	1	284	0.0035	41	c.101 others(60): Show c.101-27145_101-27144insCCCCTCCCCCTCCCCCTCCCCTCTCC CCCTCCCCTCTCCCC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50598827	C C	CCCCTCCC others(34): Show CCCCTCCCCTCCCCCTCCCCCTCCCCTCTCCCCCTCCCCTCT	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0171 a0001c0002t0003g0171	1	284	0.0035	41	c.101 others(60): Show c.101-27146_101-27145insTCCCCTCCCCCTCCCCCTCCCCTCTC CCCCTCCCCTCTCCC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2C_chr10_269201_694668	358602	G G	GTGGGAGG others(34): Show GTGGGAGGTGGGGGACGGGGGTGGGAGGTGGGGGACGGGGGA	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02071.hp1 HG02040.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0026 a0001c0001t0001g0028	2	88	0.0227	41	c.279 others(58): Show c.2795-706_2795-666dupTCCCCCGTCCCCCACCTCCCACCCCCGT CCCCCACCTCCCA	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	22/36			chr10	TogoVar
DIP2C_chr10_269201_694668	429405	C C	CCCCCCGG others(34): Show CCCCCCGGACCCTGGCTGCCTCCCCCCGGGCCCTGGCTGCCT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0003 a0001c0009t0003	a0001c0009t0003g0003 a0001c0009t0003g0003	1	88	0.0114	41	c.395 others(58): Show c.395-6373_395-6372insAGGCAGCCAGGGCCCGGGGGGAGGCAGC CAGGGTCCGGGGG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	4/36			chr10	TogoVar
DIP2C_chr10_269201_694668	429405	C C	CCCCCCGG others(34): Show CCCCCCGGGCCCTGGCTGCCTCCCCCCGGGCCCTGGCTGCCT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0069 a0001c0003t0002g0069	1	88	0.0114	41	c.395 others(58): Show c.395-6373_395-6372insAGGCAGCCAGGGCCCGGGGGGAGGCAGC CAGGGCCCGGGGG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	4/36			chr10	TogoVar
DIP2C_chr10_269201_694668	516650	G G	GACAGTGG others(34): Show GACAGTGGGACAGGGGAAGGGGGTAAGGTGGACAGTGGGACA	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA19074.hp2 NA19081.hp1 NA18747.hp2 NA19074.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0003t0002 a0001c0005t0002 a0001c0001t0001 a0001c0003t0002 a0001c0005t0002	a0001c0001t0001g0022 a0001c0003t0002g0021 a0001c0005t0002g0017 a0001c0001t0001g0022 a0001c0003t0002g0021 a0001c0005t0002g0017	3	88	0.0341	41	c.86- others(58): Show c.86-30121_86-30120insTGTCCCACTGTCCACCTTACCCCCTTCC CCTGTCCCACTGT	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIP2C_chr10_269201_694668	516743	G G	GGTGGGGG others(34): Show GGTGGGGGGGGACACGGGGTAGGGTGGGGGGGACAGGGGGTA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0009 a0001c0005t0001g0009	1	88	0.0114	41	c.86- others(58): Show c.86-30214_86-30213insTACCCCCTGTCCCCCCCACCCTACCCCG TGTCCCCCCCCAC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIP2C_chr10_269201_694668	516819	G G	GGGGGTAG others(34): Show GGGGGTAGGGTGGGGGGGACAGGGGGTAGGGTGGGGGGGGAC	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0036 a0001c0002t0003g0036	1	88	0.0114	41	c.86- others(58): Show c.86-30290_86-30289insGTCCCCCCCCACCCTACCCCCTGTCCCC CCCACCCTACCCC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIP2C_chr10_269201_694668	608695	T T	TCCCCCCA others(34): Show TCCCCCCACACACACACACATCCCCCCCCACACACACACATC	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0029 a0001c0002t0003g0029	1	88	0.0114	41	c.85+ others(58): Show c.85+80798_85+80799insGATGTGTGTGTGTGGGGGGGGATGTGTG TGTGTGTGGGGGG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIS3L_chr15_66288568_66338898	66309094	A A	AAAAAAAA others(34): Show AAAAAAAAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0292 a0001c0001t0001g0292	1	400	0.0025	41	c.558 others(56): Show c.558+251_558+252insAAAAAAAAAAAAAAAAATATATATATATAT ATATATATATA	DIS3L	ENSG00000166938.13	transcript	ENST00000319212.9	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr15	TogoVar
DIS3L_chr15_66288568_66338898	66309094	A A	AAAAAAAA others(34): Show AAAAAAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp2 HG03942.hp1 others(4): Show HG02922.hp1 HG02922.hp2 HG03942.hp1 NA18949.hp2 NA18979.hp2 NA19004.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0003 a0001c0005t0008 a0001c0001t0003 a0001c0005t0008	a0001c0001t0003g0010 a0001c0001t0003g0077 a0001c0001t0003g0078 others(3): Show a0001c0001t0003g0010 a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0003g0105 a0001c0005t0008g0062 a0001c0005t0008g0092	7	400	0.0175	41	c.558 others(56): Show c.558+251_558+252insAAAAAAAAAAAAATATATATATATATATAT ATATATATATA	DIS3L	ENSG00000166938.13	transcript	ENST00000319212.9	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr15	TogoVar
DIS3L_chr15_66288568_66338898	66309094	A A	AAAAAAAA others(34): Show AAAAAAAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 NA18962.hp1 HG00140.hp2 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0003t0004 a0001c0001t0003 a0001c0003t0004	a0001c0001t0003g0084 a0001c0003t0004g0143 a0001c0001t0003g0084 a0001c0003t0004g0143	2	400	0.0050	41	c.558 others(56): Show c.558+251_558+252insAAAAAAAAAAATATATATATATATATATAT ATATATATATA	DIS3L	ENSG00000166938.13	transcript	ENST00000319212.9	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr15	TogoVar
DIS3L_chr15_66288568_66338898	66309094	A A	AAAAAAAA others(34): Show AAAAAAAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0015 a0001c0003t0015	a0001c0003t0015g0165 a0001c0003t0015g0165	1	400	0.0025	41	c.558 others(56): Show c.558+251_558+252insAAAAAAAAATATATATATATATATATATAT ATATATATATA	DIS3L	ENSG00000166938.13	transcript	ENST00000319212.9	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr15	TogoVar
DIS3L_chr15_66288568_66338898	66309094	A A	AAAAAAAA others(34): Show AAAAAAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0329 a0001c0001t0005g0329	1	400	0.0025	41	c.558 others(56): Show c.558+251_558+252insAAAAAAATATATATATATATATATATATAT ATATATATATA	DIS3L	ENSG00000166938.13	transcript	ENST00000319212.9	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr15	TogoVar
DIS3L_chr15_66288568_66338898	66309094	A A	AAAAAAAT others(34): Show AAAAAAATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0314 a0001c0001t0005g0314	1	400	0.0025	41	c.558 others(56): Show c.558+251_558+252insAAAAATATATATATATATATATATATATAT ATATATATATA	DIS3L	ENSG00000166938.13	transcript	ENST00000319212.9	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr15	TogoVar
DIS3L_chr15_66288568_66338898	66309094	A A	AAAAATAT others(34): Show AAAAATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0333 a0001c0001t0005g0333	1	400	0.0025	41	c.558 others(56): Show c.558+251_558+252insAAATATATATATATATATATATATATATAT ATATATATATA	DIS3L	ENSG00000166938.13	transcript	ENST00000319212.9	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr15	TogoVar

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