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
DPH7_chr9_137549444_137583925	137568288	TCTGTCTG others(21): Show TCTGTCTGTGAGGAAGCTCCCCTGGGTGA	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 NA18747.hp2 NA19000.hp2 HG02451.hp1 NA18747.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0152 a0001c0001t0001g0217 a0001c0001t0001g0061 a0001c0001t0001g0152 a0001c0001t0001g0217	3	340	0.0088	-28	c.641 others(45): Show c.641-3162_641-3135delTCACCCAGGGGAGCTTCCTCACAGACAG	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137568496	TCTGTCTG others(21): Show TCTGTCTGTGAGGAAGCTCCCCTGGGTGA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02257.hp2 HG02258.hp1 others(4): Show HG01109.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02970.hp1 HG03209.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0001 a0001c0001t0002 a0001c0001t0009	a0001c0001t0001g0227 a0001c0001t0002g0026 a0001c0001t0002g0252 others(4): Show a0001c0001t0001g0227 a0001c0001t0002g0026 a0001c0001t0002g0252 a0001c0001t0002g0287 a0001c0001t0002g0291 a0001c0001t0002g0295 a0001c0001t0009g0253	7	340	0.0206	-28	c.641 others(45): Show c.641-3370_641-3343delTCACCCAGGGGAGCTTCCTCACAGACAG	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPP10_chr2_114437641_115850780	114532272	TATATATA others(21): Show TATATATATATATATATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01175.hp2 HG01243.hp2 others(15): Show HG00639.hp2 HG01175.hp2 HG01243.hp2 HG02109.hp2 HG02809.hp1 HG02818.hp1 HG03098.hp1 HG03195.hp2 HG03516.hp1 HG03516.hp2 NA18906.hp1 NA18970.hp2 NA18986.hp1 NA19030.hp1 NA19043.hp2 NA19240.hp1 NA20129.hp1 NA20752.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0006	a0001c0002 a0001c0004 a0002c0001 others(3): Show a0001c0002 a0001c0004 a0002c0001 a0003c0003 a0004c0005 a0006c0006	a0001c0002t0001 a0001c0002t0009 a0001c0004t0008 others(5): Show a0001c0002t0001 a0001c0002t0009 a0001c0004t0008 a0002c0001t0001 a0002c0001t0002 a0003c0003t0003 a0004c0005t0003 a0006c0006t0006	a0001c0002t0001g0012 a0001c0002t0001g0015 a0001c0002t0001g0017 others(15): Show a0001c0002t0001g0012 a0001c0002t0001g0015 a0001c0002t0001g0017 a0001c0002t0001g0025 a0001c0002t0001g0038 a0001c0002t0001g0041 a0001c0002t0001g0047 a0001c0002t0009g0034 a0001c0004t0008g0045 a0002c0001t0001g0040 a0002c0001t0002g0006 a0002c0001t0002g0011 a0002c0001t0002g0037 a0003c0003t0003g0008 a0003c0003t0003g0039 a0003c0003t0003g0049 a0004c0005t0003g0030 a0006c0006t0006g0016	18	56	0.3214	-28	c.60+ others(45): Show c.60+89436_60+89463delTATATATATATATATATATATATACACA	DPP10	ENSG00000175497.17	transcript	ENST00000410059.6	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
DPP10_chr2_114437641_115850780	114757238	GAAGGAAG others(21): Show GAAGGAAGGAAAGAAAGGGAAGAGGGAGA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02735.hp1 HG02809.hp1 others(1): Show HG02109.hp1 HG02735.hp1 HG02809.hp1 HG02896.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0002 a0002c0001 a0006c0006 a0001c0002 a0002c0001 a0006c0006	a0001c0002t0001 a0002c0001t0005 a0006c0006t0006 a0001c0002t0001 a0002c0001t0005 a0006c0006t0006	a0001c0002t0001g0004 a0001c0002t0001g0017 a0002c0001t0005g0029 others(1): Show a0001c0002t0001g0004 a0001c0002t0001g0017 a0002c0001t0005g0029 a0006c0006t0006g0003	4	56	0.0714	-28	c.60+ others(47): Show c.60+314415_60+314442delAGGGAAGAGGGAGAAAGGAAGGAAAG AA	DPP10	ENSG00000175497.17	transcript	ENST00000410059.6	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
DPP4_chr2_161987245_162079215	161987696	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00423.hp1 HG00642.hp1 others(34): Show HG00280.hp2 HG00423.hp1 HG00642.hp1 HG00733.hp2 HG00735.hp1 HG01069.hp2 HG01081.hp2 HG01099.hp1 HG01243.hp1 HG01361.hp1 HG01516.hp1 HG01517.hp2 HG01891.hp1 HG02055.hp2 HG02109.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp2 HG02886.hp2 HG02965.hp2 HG02976.hp2 HG03139.hp1 HG03209.hp2 HG03471.hp2 HG03540.hp2 HG03579.hp2 NA18522.hp1 NA18969.hp2 NA18994.hp2 NA18999.hp1 NA19002.hp2 NA19056.hp2 NA19074.hp1 NA19079.hp1 NA19080.hp1 NA20129.hp1 NA20752.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0003c0010 a0001c0001 a0001c0003 a0003c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0003t0001 a0003c0010t0001	a0001c0001t0001g0006 a0001c0001t0001g0022 a0001c0001t0001g0030 others(32): Show a0001c0001t0001g0006 a0001c0001t0001g0022 a0001c0001t0001g0030 a0001c0001t0001g0034 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0070 a0001c0001t0001g0083 a0001c0001t0001g0141 a0001c0001t0001g0273 a0001c0001t0002g0012 a0001c0001t0002g0146 a0001c0001t0002g0180 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0205 a0001c0001t0002g0219 a0001c0001t0002g0229 a0001c0001t0002g0262 a0001c0001t0007g0042 a0001c0003t0001g0017 a0001c0003t0001g0020 a0003c0010t0001g0049	37	292	0.1267	-28	c.55 others(39): Show c.5559_*5586delTATATATATATATATATATATATATATA	DPP4	ENSG00000197635.11	transcript	ENST00000360534.8	protein_coding		4548		chr2	TogoVar
DPP6_chr7_154047398_154899285	154239992	TAAAAAAA others(21): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0010 a0001c0010t0010	a0001c0010t0010g0009 a0001c0010t0010g0009	1	38	0.0263	-28	c.243 others(49): Show c.243+186948_243+186975delAAAAAAAAAAAAAAAAAAAAAAAA AAAA	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
DPP7_chr9_137105546_137119733	137114053	GGCCCCGC others(21): Show GGCCCCGCGACCCCGCCCGGCACCCGCGT	G G	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19057.hp2 NA19074.hp1 NA19009.hp2 NA19057.hp2 NA19074.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0018 a0002c0002t0001g0018	3	454	0.0066	-28	c.322 others(41): Show c.322-53_322-26delACGCGGGTGCCGGGCGGGGTCGCGGGGC	DPP7	ENSG00000176978.15	transcript	ENST00000371579.7	protein_coding	3/12			chr9	TogoVar
DPP8_chr15_65437467_65522689	65448865	AATATATA others(21): Show AATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02647.hp2 NA19240.hp1 HG02647.hp2 NA19240.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0016 a0001c0005t0016	a0001c0005t0016g0300 a0001c0005t0016g0301 a0001c0005t0016g0300 a0001c0005t0016g0301	2	336	0.0060	-28	c.252 others(47): Show c.2527-1887_2527-1860delATATATATATATATATATATATATAT AT	DPP8	ENSG00000074603.19	transcript	ENST00000300141.11	protein_coding	19/19			chr15	TogoVar
DPP9_chr19_4670227_4728842	4672002	TATATATA others(21): Show TATATATATTCATATATTCACATATGTGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG00609.hp1 HG02258.hp2 others(3): Show HG00597.hp2 HG00609.hp1 HG02258.hp2 NA18950.hp1 NA19005.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0110 a0001c0001t0001g0136 a0001c0001t0001g0170 others(3): Show a0001c0001t0001g0110 a0001c0001t0001g0136 a0001c0001t0001g0170 a0001c0001t0001g0204 a0001c0001t0001g0263 a0001c0002t0002g0006	6	314	0.0191	-28	c.45 others(39): Show c.4534_*4561delTCACATATGTGAATATATGAATATATAT	DPP9	ENSG00000142002.19	transcript	ENST00000262960.14	protein_coding		3224		chr19	TogoVar
DPY19L2_chr12_63553913_63673493	63600838	TGCAGTGG others(21): Show TGCAGTGGCGCGATCTCTGCTCACTGCAA	T T	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01123.hp1 HG01255.hp1 others(6): Show HG01099.hp2 HG01123.hp1 HG01255.hp1 HG01496.hp1 HG01943.hp1 HG02273.hp1 NA18941.hp1 NA18945.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0220 a0001c0001t0001g0221 others(6): Show a0001c0001t0001g0201 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0229	9	362	0.0249	-28	c.127 others(45): Show c.1279-480_1279-453delTTGCAGTGAGCAGAGATCGCGCCACTGC	DPY19L2	ENSG00000177990.12	transcript	ENST00000324472.9	protein_coding	12/21			chr12	TogoVar
DPYD_chr1_97072743_97926034	97134014	AATATATA others(21): Show AATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03579.hp1 HG03225.hp2 HG03579.hp1	a0002 a0006 a0002 a0006	a0002c0002 a0006c0005 a0002c0002 a0006c0005	a0002c0002t0001 a0006c0005t0001 a0002c0002t0001 a0006c0005t0001	a0002c0002t0001g0047 a0006c0005t0001g0001 a0002c0002t0001g0047 a0006c0005t0001g0001	2	52	0.0385	-28	c.262 others(49): Show c.2623-35410_2623-35383delATATATATATATATATATATATAT ATAT	DPYD	ENSG00000188641.14	transcript	ENST00000370192.8	protein_coding	20/22			chr1	TogoVar
DPYD_chr1_97072743_97926034	97195634	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02895.hp2 HG02132.hp1 HG02895.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0005 a0001c0001 a0006c0005	a0001c0001t0003 a0006c0005t0002 a0001c0001t0003 a0006c0005t0002	a0001c0001t0003g0025 a0006c0005t0002g0024 a0001c0001t0003g0025 a0006c0005t0002g0024	2	52	0.0385	-28	c.244 others(47): Show c.2443-2414_2443-2387delTATATATATATATATATATATATATA TA	DPYD	ENSG00000188641.14	transcript	ENST00000370192.8	protein_coding	19/22			chr1	TogoVar
DPYD_chr1_97072743_97926034	97323392	GTATACAT others(21): Show GTATACATATGTGTATATGTACACGTATA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00735.hp1 HG02004.hp1 others(2): Show HG00099.hp2 HG00735.hp1 HG02004.hp1 HG03471.hp2 NA20300.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0012 a0004c0004 a0001c0001 a0003c0012 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0003c0012t0002 others(1): Show a0001c0001t0001 a0001c0001t0002 a0003c0012t0002 a0004c0004t0003	a0001c0001t0001g0031 a0001c0001t0001g0045 a0001c0001t0002g0004 others(2): Show a0001c0001t0001g0031 a0001c0001t0001g0045 a0001c0001t0002g0004 a0003c0012t0002g0014 a0004c0004t0003g0039	5	52	0.0962	-28	c.205 others(49): Show c.2059-17123_2059-17096delTATACGTGTACATATACACATATG TATA	DPYD	ENSG00000188641.14	transcript	ENST00000370192.8	protein_coding	16/22			chr1	TogoVar
DPYSL4_chr10_132181948_132210759	132205923	CAGGGCAG others(21): Show CAGGGCAGCCAACATCCAGGGCGGGGCAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	418	0.0024	-28	c.99 others(38): Show c.994_*1021delAGGGCAGCCAACATCCAGGGCGGGGCAG	DPYSL4	ENSG00000151640.13	transcript	ENST00000338492.9	protein_coding		165		chr10	TogoVar
DPYSL4_chr10_132181948_132210759	132205948	GCAGAGGG others(21): Show GCAGAGGGCAGCCAACATCCAGGGCGGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	418	0.0024	-28	c.10 others(39): Show c.1019_*1046delCAGAGGGCAGCCAACATCCAGGGCGGGA	DPYSL4	ENSG00000151640.13	transcript	ENST00000338492.9	protein_coding		190		chr10	TogoVar
DPYSL4_chr10_132181948_132210759	132205955	GCAGCCAA others(21): Show GCAGCCAACATCCAGGGCGGGACAGAGGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01243.hp2 HG01891.hp1 others(6): Show HG01109.hp1 HG01243.hp2 HG01891.hp1 HG02615.hp1 HG02717.hp1 HG03139.hp1 HG03579.hp2 HG03654.hp2 NA19043.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0015 a0001c0023 others(2): Show a0001c0001 a0001c0015 a0001c0023 a0002c0005 a0003c0008	a0001c0001t0007 a0001c0015t0027 a0001c0023t0037 others(3): Show a0001c0001t0007 a0001c0015t0027 a0001c0023t0037 a0002c0005t0009 a0003c0008t0007 a0003c0008t0019	a0001c0001t0007g0070 a0001c0001t0007g0071 a0001c0015t0027g0073 others(5): Show a0001c0001t0007g0070 a0001c0001t0007g0071 a0001c0015t0027g0073 a0001c0023t0037g0069 a0002c0005t0009g0010 a0002c0005t0009g0085 a0003c0008t0007g0012 a0003c0008t0019g0094	9	418	0.0215	-28	c.10 others(39): Show c.1026_*1053delCAGCCAACATCCAGGGCGGGACAGAGGC	DPYSL4	ENSG00000151640.13	transcript	ENST00000338492.9	protein_coding		197		chr10	TogoVar
DPYSL5_chr2_26843132_26955351	26932184	AAAGAAAG others(21): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAAG	A A	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0141 a0001c0002t0004g0141	1	232	0.0043	-28	c.714 others(43): Show c.714+503_714+530delGAAAGAAAGAAAGAAAGAAAGAAAAGAA	DPYSL5	ENSG00000157851.17	transcript	ENST00000288699.11	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
DRC7_chr16_57689806_57736805	57706588	TCCCATCC others(21): Show TCCCATCCGTCCATCCTCCCACCCACCCC	T T	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0003 a0003	a0003c0025 a0003c0025	a0003c0025t0003 a0003c0025t0003	a0003c0025t0003g0079 a0003c0025t0003g0079	1	388	0.0026	-28	c.859 others(43): Show c.859-851_859-824delCCCACCCCCCCATCCGTCCATCCTCCCA	DRC7	ENSG00000159625.15	transcript	ENST00000360716.8	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr16	TogoVar
DRG2_chr17_18082948_18112969	18090380	ATATATAT others(21): Show ATATATATATATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0300 a0001c0001t0002g0300	1	418	0.0024	-28	c.64+ others(43): Show c.64+2295_64+2322delATATATATATATATATATATATATATTT	DRG2	ENSG00000108591.10	transcript	ENST00000225729.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
DSC3_chr18_30984365_31047742	31032569	TGTGTGTG others(21): Show TGTGTGTGTGTGTGTGTGTGTGCGTGTGC	T T	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03139.hp1 HG02615.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0367 a0001c0001t0031g0371 a0001c0001t0031g0367 a0001c0001t0031g0371	2	392	0.0051	-28	c.70- others(41): Show c.70-321_70-294delGCACACGCACACACACACACACACACAC	DSC3	ENSG00000134762.17	transcript	ENST00000360428.9	protein_coding	1/15			chr18	TogoVar
DSCAML1_chr11_117422772_117802216	117447461	TACCAGTG others(21): Show TACCAGTGTTTATCTGTAGGAAGTACATC	T T	intron_variant intron_variant	MODIFIER	HG01074.hp1 NA20300.hp2 HG01074.hp1 NA20300.hp2	a0001 a0001	a0001c0024 a0001c0043 a0001c0024 a0001c0043	a0001c0024t0002 a0001c0043t0003 a0001c0024t0002 a0001c0043t0003	a0001c0024t0002g0036 a0001c0043t0003g0184 a0001c0024t0002g0036 a0001c0043t0003g0184	2	194	0.0103	-28	c.370 others(47): Show c.3708+3060_3708+3087delGATGTACTTCCTACAGATAAACACTG GT	DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	20/32			chr11	TogoVar
DSCAML1_chr11_117422772_117802216	117481557	GGGGGTCC others(21): Show GGGGGTCCCAGGGGAGTAGGAGGGGCTGA	G G	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0001 a0001c0028t0001	a0001c0028t0001g0067 a0001c0028t0001g0067	1	194	0.0052	-28	c.256 others(45): Show c.2560-315_2560-288delTCAGCCCCTCCTACTCCCCTGGGACCCC	DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	12/32			chr11	TogoVar
DSCAML1_chr11_117422772_117802216	117656496	CATCTATC others(21): Show CATCTATCTATCTATCTATCTATCTATCT	C C	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0055 a0001c0055	a0001c0055t0001 a0001c0055t0001	a0001c0055t0001g0105 a0001c0055t0001g0105	1	194	0.0052	-28	c.511 others(49): Show c.511+120267_511+120294delAGATAGATAGATAGATAGATAGAT AGAT	DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	3/32			chr11	TogoVar
DSG1_chr18_31313160_31364246	31347865	GAACTACT others(21): Show GAACTACTTTTCCAGACAAAAAACAAAAC	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02145.hp1 HG02258.hp2 others(17): Show HG01884.hp1 HG02145.hp1 HG02258.hp2 HG02451.hp1 HG02559.hp1 HG02615.hp1 HG02622.hp2 HG02886.hp2 HG02895.hp1 HG02922.hp1 HG02976.hp1 HG03130.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03516.hp1 HG03516.hp2 NA18522.hp2 NA19240.hp1 NA20300.hp2	a0007 a0012 a0013 others(4): Show a0007 a0012 a0013 a0014 a0017 a0021 a0024	a0007c0007 a0012c0010 a0013c0012 others(5): Show a0007c0007 a0012c0010 a0013c0012 a0014c0013 a0017c0038 a0017c0039 a0021c0023 a0024c0024	a0007c0007t0009 a0012c0010t0014 a0013c0012t0015 others(5): Show a0007c0007t0009 a0012c0010t0014 a0013c0012t0015 a0014c0013t0016 a0017c0038t0009 a0017c0039t0034 a0021c0023t0022 a0024c0024t0023	a0007c0007t0009g0106 a0007c0007t0009g0108 a0007c0007t0009g0110 others(13): Show a0007c0007t0009g0106 a0007c0007t0009g0108 a0007c0007t0009g0110 a0007c0007t0009g0126 a0007c0007t0009g0172 a0012c0010t0014g0031 a0012c0010t0014g0222 a0013c0012t0015g0029 a0013c0012t0015g0191 a0014c0013t0016g0012 a0014c0013t0016g0040 a0017c0038t0009g0092 a0017c0039t0034g0091 a0021c0023t0022g0038 a0021c0023t0022g0039 a0024c0024t0023g0016	20	302	0.0662	-28	c.210 others(47): Show c.2100+1671_2100+1698delTACTTTTCCAGACAAAAAACAAAACA AC	DSG1	ENSG00000134760.6	transcript	ENST00000257192.5	protein_coding	14/14		INFO_REALIGN_3_PRIME	chr18	TogoVar
DSG3_chr18_31442741_31483702	31457573	CTTTCTTT others(21): Show CTTTCTTTCTTTCTTCTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00735.hp1 others(42): Show HG00140.hp1 HG00323.hp1 HG00735.hp1 HG01074.hp2 HG01346.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01517.hp2 HG01934.hp2 HG01952.hp2 HG01975.hp1 HG02129.hp2 HG02155.hp1 HG02258.hp2 HG02683.hp2 HG03098.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03654.hp1 HG03669.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp1 NA18939.hp1 NA18941.hp1 NA18944.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18959.hp2 NA18966.hp2 NA18972.hp1 NA18977.hp2 NA18993.hp1 NA19002.hp1 NA19030.hp1 NA19055.hp2 NA19087.hp1 NA19091.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0005 a0001c0001 a0002c0002 a0004c0005	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(9): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0014 a0001c0001t0038 a0001c0001t0054 a0001c0001t0055 a0001c0001t0057 a0001c0001t0058 a0002c0002t0007 a0002c0002t0009 a0004c0005t0002	a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0018 others(27): Show a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0018 a0001c0001t0002g0213 a0001c0001t0002g0215 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0238 a0001c0001t0004g0007 a0001c0001t0004g0051 a0001c0001t0004g0077 a0001c0001t0005g0216 a0001c0001t0014g0003 a0001c0001t0038g0003 a0001c0001t0054g0235 a0001c0001t0055g0236 a0001c0001t0057g0002 a0001c0001t0058g0239 a0002c0002t0007g0207 a0002c0002t0007g0208 a0002c0002t0009g0037 a0004c0005t0002g0002 a0004c0005t0002g0003 a0004c0005t0002g0217 a0004c0005t0002g0233 a0004c0005t0002g0234 a0004c0005t0002g0237	45	346	0.1301	-28	c.216 others(43): Show c.216+452_216+479delTCTTTCTTTCTTCTTTCTTTCTTTCTTT	DSG3	ENSG00000134757.5	transcript	ENST00000257189.5	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr18	TogoVar
DSG3_chr18_31442741_31483702	31457577	CTTTCTTT others(21): Show CTTTCTTTCTTCTTTCTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02717.hp1 HG03453.hp1 HG02055.hp2 HG02717.hp1 HG03453.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0009 a0002c0002t0010 a0002c0002t0029 a0001c0001t0009 a0002c0002t0010 a0002c0002t0029	a0001c0001t0009g0212 a0002c0002t0010g0162 a0002c0002t0029g0249 a0001c0001t0009g0212 a0002c0002t0010g0162 a0002c0002t0029g0249	3	346	0.0087	-28	c.216 others(43): Show c.216+456_216+483delTCTTTCTTCTTTCTTTCTTTCTTTCTTT	DSG3	ENSG00000134757.5	transcript	ENST00000257189.5	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr18	TogoVar
DSG3_chr18_31442741_31483702	31457581	CTTTCTTC others(21): Show CTTTCTTCTTTCTTTCTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG01074.hp1 others(31): Show HG00099.hp1 HG00323.hp2 HG01074.hp1 HG01099.hp1 HG01106.hp1 HG01109.hp2 HG01167.hp2 HG01346.hp1 HG01891.hp2 HG02040.hp2 HG02074.hp2 HG02132.hp2 HG02559.hp2 HG02738.hp1 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG04115.hp2 HG04184.hp2 NA18942.hp2 NA18948.hp2 NA18959.hp1 NA18985.hp2 NA18993.hp2 NA19066.hp2 NA19076.hp2 NA19080.hp1 NA19083.hp1 NA19085.hp1 NA19086.hp1 NA19090.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0001c0017 others(2): Show a0001c0001 a0001c0006 a0001c0017 a0001c0021 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0018 a0001c0001t0021 a0001c0001t0047 a0001c0006t0005 a0001c0017t0043 a0001c0021t0044 a0002c0002t0010	a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0003g0011 others(24): Show a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0003g0011 a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0033 a0001c0001t0003g0148 a0001c0001t0003g0149 a0001c0001t0003g0165 a0001c0001t0003g0170 a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0003g0187 a0001c0001t0003g0188 a0001c0001t0003g0192 a0001c0001t0003g0193 a0001c0001t0004g0184 a0001c0001t0018g0033 a0001c0001t0018g0173 a0001c0001t0018g0185 a0001c0001t0021g0167 a0001c0001t0021g0172 a0001c0001t0047g0168 a0001c0006t0005g0166 a0001c0017t0043g0180 a0001c0021t0044g0178 a0002c0002t0010g0181	34	346	0.0983	-28	c.216 others(43): Show c.216+460_216+487delTCTTCTTTCTTTCTTTCTTTCTTTCTTT	DSG3	ENSG00000134757.5	transcript	ENST00000257189.5	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr18	TogoVar
DTD1_chr20_18583054_18771644	18629251	CTCCCAAA others(21): Show CTCCCAAAGTGCTGGGATTACAGGTGTAA	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0161 a0001c0001t0004g0161	1	398	0.0025	-28	c.477 others(45): Show c.477+1024_477+1051delAAGTGCTGGGATTACAGGTGTAATCCCA	DTD1	ENSG00000125821.13	transcript	ENST00000377452.4	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
DTNB_chr2_25372243_25678577	25420467	AATCTATC others(21): Show AATCTATCTATCTATCTATCTATCTATCT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00639.hp1 HG00735.hp2 others(15): Show HG00438.hp1 HG00639.hp1 HG00735.hp2 HG00741.hp2 HG01071.hp2 HG01123.hp2 HG01169.hp1 HG01192.hp2 HG01433.hp1 HG01496.hp2 HG02293.hp2 HG02735.hp1 HG03486.hp1 HG03654.hp2 HG04204.hp1 NA19057.hp2 NA19063.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0039 others(15): Show a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0039 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0068 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0087 a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0156 a0001c0002t0001g0038 a0001c0002t0001g0099	18	168	0.1071	-28	c.155 others(45): Show c.1555-960_1555-933delAGATAGATAGATAGATAGATAGATAGAT	DTNB	ENSG00000138101.20	transcript	ENST00000406818.8	protein_coding	15/20			chr2	TogoVar
DUOX1_chr15_45124994_45170574	45153520	GTGTGTGT others(21): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG02572.hp2 NA21309.hp2 HG02572.hp2 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0006 a0002c0002 a0002c0006	a0002c0002t0003 a0002c0006t0003 a0002c0002t0003 a0002c0006t0003	a0002c0002t0003g0150 a0002c0006t0003g0180 a0002c0002t0003g0150 a0002c0006t0003g0180	2	386	0.0052	-28	c.352 others(43): Show c.3524+43_3524+70delGTGTGTGTGTGTGTGTGTGTGTGTGTAT	DUOX1	ENSG00000137857.18	transcript	ENST00000389037.7	protein_coding	26/33		INFO_REALIGN_3_PRIME	chr15	TogoVar
DUS2_chr16_68018284_68084320	68020772	TATATATA others(21): Show TATATATATACACGTATATATATATATAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02717.hp1 HG02886.hp1 others(1): Show HG02572.hp1 HG02717.hp1 HG02886.hp1 HG02976.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0218 a0003c0004t0001g0219 a0003c0004t0001g0220 others(1): Show a0003c0004t0001g0218 a0003c0004t0001g0219 a0003c0004t0001g0220 a0003c0004t0001g0221	4	234	0.0171	-28	c.-26 others(39): Show c.-2677_-2650delATATATATACACGTATATATATATATAC	DUS2	ENSG00000167264.18	transcript	ENST00000565263.6	protein_coding		2511		chr16	TogoVar
DUS2_chr16_68018284_68084320	68035884	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00639.hp1 HG00738.hp1 others(44): Show HG00438.hp2 HG00639.hp1 HG00738.hp1 HG00741.hp1 HG01099.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01256.hp2 HG01258.hp1 HG01975.hp1 HG02027.hp1 HG02055.hp2 HG02071.hp1 HG02132.hp2 HG02602.hp2 HG02630.hp2 HG03098.hp2 HG03486.hp1 HG03491.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp2 HG03927.hp1 HG03942.hp1 HG04199.hp1 NA18940.hp1 NA18941.hp1 NA18952.hp1 NA18953.hp2 NA18961.hp2 NA18973.hp2 NA18975.hp1 NA18978.hp2 NA18981.hp2 NA18994.hp2 NA18995.hp1 NA19000.hp1 NA19010.hp1 NA19055.hp2 NA19060.hp1 NA19064.hp1 NA19081.hp1 NA19090.hp1 NA20805.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0004 others(41): Show a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0019 a0001c0002t0001g0020 a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0101 a0001c0002t0001g0162	47	234	0.2009	-28	c.-18 others(45): Show c.-18-2103_-18-2076delTATATATATATATATATATATATATATA	DUS2	ENSG00000167264.18	transcript	ENST00000565263.6	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
DUSP14_chr17_37484891_37518498	37509243	CTATATAT others(21): Show CTATATATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0210 a0001c0001t0002g0210	1	421	0.0024	-28	c.-18 others(47): Show c.-180-1407_-180-1380delTATATATATATATATATATATATATA TA	DUSP14	ENSG00000276023.5	transcript	ENST00000617516.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr17	TogoVar
DUSP15_chr20_31856077_31875527	31873809	GAAGGAAG others(21): Show GAAGGAAGGAAGGAAGAAAGAAAGAAAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0136 a0002c0002t0001g0136	1	378	0.0027	-28	c.-35 others(39): Show c.-3500_-3473delTCTTTCTTTCTTTCTTCCTTCCTTCCTT	DUSP15	ENSG00000149599.16	transcript	ENST00000339738.10	protein_coding		3283		chr20	TogoVar
DUSP15_chr20_31856077_31875527	31873813	GAAGGAAG others(21): Show GAAGGAAGGAAGAAAGAAAGAAAGAAAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0049 a0001c0001t0006g0049	1	378	0.0027	-28	c.-35 others(39): Show c.-3504_-3477delTCTTTCTTTCTTTCTTTCTTCCTTCCTT	DUSP15	ENSG00000149599.16	transcript	ENST00000339738.10	protein_coding		3287		chr20	TogoVar
DUSP15_chr20_31856077_31875527	31873817	GAAGGAAG others(21): Show GAAGGAAGAAAGAAAGAAAGAAAGAAAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0097 a0005c0008t0001g0097	1	378	0.0027	-28	c.-35 others(39): Show c.-3508_-3481delTCTTTCTTTCTTTCTTTCTTTCTTCCTT	DUSP15	ENSG00000149599.16	transcript	ENST00000339738.10	protein_coding		3291		chr20	TogoVar
DUSP29_chr10_75032472_75078642	75070070	AAAGGAAG others(21): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00735.hp2 HG01243.hp2 others(32): Show HG00558.hp2 HG00735.hp2 HG01243.hp2 HG01433.hp2 HG01884.hp1 HG01975.hp2 HG02055.hp2 HG02280.hp2 HG02451.hp2 HG02615.hp1 HG02630.hp2 HG02809.hp2 HG02818.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03209.hp1 HG03225.hp2 HG03486.hp1 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG06807.hp2 NA18906.hp2 NA18960.hp1 NA18979.hp1 NA18987.hp1 NA19011.hp1 NA19043.hp2 NA19074.hp1 NA19075.hp1 NA19083.hp1 NA19091.hp1 NA20129.hp1 NA20752.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0009 a0010	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0009c0011 a0010c0010	a0001c0001t0001 a0002c0002t0001 a0002c0002t0006 others(4): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0006 a0002c0002t0007 a0003c0003t0001 a0009c0011t0001 a0010c0010t0001	a0001c0001t0001g0240 a0001c0001t0001g0243 a0001c0001t0001g0245 others(26): Show a0001c0001t0001g0240 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0276 a0002c0002t0001g0005 a0002c0002t0001g0020 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0055 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0113 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0185 a0002c0002t0001g0241 a0002c0002t0001g0242 a0002c0002t0001g0244 a0002c0002t0001g0247 a0002c0002t0001g0249 a0002c0002t0006g0062 a0002c0002t0007g0280 a0003c0003t0001g0057 a0009c0011t0001g0061 a0010c0010t0001g0246	35	368	0.0951	-28	c.-35 others(45): Show c.-35+3471_-35+3498delCCTTCCTTCCTTCCTTCCTTCCTTCCTT	DUSP29	ENSG00000188716.6	transcript	ENST00000338487.6	protein_coding	1/3			chr10	TogoVar
DYM_chr18_49031387_49465645	49081519	AGGGAGAG others(21): Show AGGGAGAGGGGAGAGGGGAGAGGGGAGAG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00642.hp2 HG00738.hp2 others(28): Show HG00099.hp1 HG00642.hp2 HG00738.hp2 HG01074.hp1 HG01106.hp2 HG01169.hp1 HG01192.hp1 HG01243.hp1 HG01255.hp2 HG01256.hp2 HG01258.hp2 HG01346.hp1 HG01496.hp1 HG01515.hp1 HG02145.hp2 HG02683.hp2 HG02717.hp1 HG02735.hp2 HG02895.hp2 HG02897.hp1 HG02970.hp1 HG03041.hp1 HG03209.hp1 HG03225.hp1 HG03579.hp1 HG03669.hp1 HG04204.hp1 NA19043.hp2 NA20752.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0010 a0001c0001 a0002c0010	a0001c0001t0002 a0001c0001t0004 a0001c0001t0016 others(4): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0016 a0001c0001t0017 a0001c0001t0022 a0001c0001t0030 a0002c0010t0023	a0001c0001t0002g0287 a0001c0001t0004g0116 a0001c0001t0004g0117 others(28): Show a0001c0001t0002g0287 a0001c0001t0004g0116 a0001c0001t0004g0117 a0001c0001t0004g0118 a0001c0001t0004g0119 a0001c0001t0004g0122 a0001c0001t0004g0123 a0001c0001t0004g0124 a0001c0001t0004g0126 a0001c0001t0004g0128 a0001c0001t0004g0129 a0001c0001t0004g0130 a0001c0001t0004g0131 a0001c0001t0004g0132 a0001c0001t0004g0134 a0001c0001t0004g0135 a0001c0001t0004g0136 a0001c0001t0004g0137 a0001c0001t0004g0138 a0001c0001t0004g0139 a0001c0001t0004g0141 a0001c0001t0004g0152 a0001c0001t0004g0257 a0001c0001t0004g0289 a0001c0001t0016g0125 a0001c0001t0016g0140 a0001c0001t0017g0288 a0001c0001t0022g0182 a0001c0001t0022g0286 a0001c0001t0030g0127 a0002c0010t0023g0009	31	290	0.1069	-28	c.202 others(49): Show c.2025+15855_2025+15882delCTCTCCCCTCTCCCCTCTCCCCTC TCCC	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	17/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49393091	GGGAAGGA others(21): Show GGGAAGGAAGGAAGGAAGGAAGGAAGGAA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00738.hp1 HG01884.hp1 others(14): Show HG00099.hp2 HG00738.hp1 HG01884.hp1 HG02027.hp1 HG02083.hp2 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02622.hp2 HG02809.hp1 HG02922.hp1 HG02922.hp2 HG03041.hp2 HG03209.hp2 HG03486.hp1 HG03516.hp1 NA19240.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0006c0005	a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 others(8): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0002t0001 a0001c0003t0024 a0001c0003t0025 a0001c0003t0026 a0001c0003t0027 a0006c0005t0039	a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0005g0258 others(14): Show a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0005g0258 a0001c0001t0005g0259 a0001c0001t0006g0178 a0001c0001t0007g0107 a0001c0001t0007g0111 a0001c0001t0011g0240 a0001c0001t0011g0242 a0001c0002t0001g0222 a0001c0002t0001g0223 a0001c0002t0001g0238 a0001c0003t0024g0008 a0001c0003t0025g0278 a0001c0003t0026g0001 a0001c0003t0027g0277 a0006c0005t0039g0110	17	290	0.0586	-28	c.141 others(45): Show c.141-1474_141-1447delTTCCTTCCTTCCTTCCTTCCTTCCTTCC	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	2/17			chr18	TogoVar
DYNC1H1_chr14_101959573_102061443	102044715	CTCCCCAC others(21): Show CTCCCCACACGCAGGGTGGGTGGCGAGGG	C C	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0018 a0001c0003t0001g0018	1	280	0.0036	-28	c.130 others(45): Show c.13006+23_13006+50delACACGCAGGGTGGGTGGCGAGGGTCCCC	DYNC1H1	ENSG00000197102.14	transcript	ENST00000360184.10	protein_coding	72/77		INFO_REALIGN_3_PRIME	chr14	TogoVar
DYNC1H1_chr14_101959573_102061443	102044727	AGGGTGGG others(21): Show AGGGTGGGTGGCGAGGGTCCCCTCACGCG	A A	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01243.hp1 HG01257.hp2 others(12): Show HG01099.hp2 HG01243.hp1 HG01257.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG02145.hp1 HG02280.hp1 HG02572.hp1 HG02698.hp1 HG03017.hp2 HG03491.hp1 HG03492.hp1 HG04115.hp2 NA19084.hp2	a0001 a0002 a0001 a0002	a0001c0009 a0001c0011 a0001c0018 others(1): Show a0001c0009 a0001c0011 a0001c0018 a0002c0004	a0001c0009t0005 a0001c0011t0005 a0001c0011t0041 others(3): Show a0001c0009t0005 a0001c0011t0005 a0001c0011t0041 a0001c0018t0005 a0001c0018t0039 a0002c0004t0040	a0001c0009t0005g0003 a0001c0009t0005g0004 a0001c0009t0005g0006 others(12): Show a0001c0009t0005g0003 a0001c0009t0005g0004 a0001c0009t0005g0006 a0001c0009t0005g0007 a0001c0009t0005g0008 a0001c0009t0005g0009 a0001c0009t0005g0015 a0001c0011t0005g0010 a0001c0011t0005g0011 a0001c0011t0005g0012 a0001c0011t0005g0013 a0001c0011t0041g0014 a0001c0018t0005g0235 a0001c0018t0039g0234 a0002c0004t0040g0156	15	280	0.0536	-28	c.130 others(45): Show c.13006+51_13006+78delTCACGCGGGGTGGGTGGCGAGGGTCCCC	DYNC1H1	ENSG00000197102.14	transcript	ENST00000360184.10	protein_coding	72/77		INFO_REALIGN_3_PRIME	chr14	TogoVar
DYNC1H1_chr14_101959573_102061443	102057682	TCCAACAC others(21): Show TCCAACACCTAACACCTAACACCTAACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02572.hp2 HG02970.hp1 others(3): Show HG02486.hp1 HG02572.hp2 HG02970.hp1 HG03098.hp2 HG03579.hp2 NA20129.hp1	a0002 a0002	a0002c0005 a0002c0037 a0002c0005 a0002c0037	a0002c0005t0019 a0002c0005t0050 a0002c0005t0056 others(1): Show a0002c0005t0019 a0002c0005t0050 a0002c0005t0056 a0002c0037t0021	a0002c0005t0019g0017 a0002c0005t0019g0031 a0002c0005t0019g0163 others(3): Show a0002c0005t0019g0017 a0002c0005t0019g0031 a0002c0005t0019g0163 a0002c0005t0050g0032 a0002c0005t0056g0052 a0002c0037t0021g0035	6	280	0.0214	-28	c.71 others(39): Show c.7120_*7147delCCAACACCTAACACCTAACACCTAACAC	DYNC1H1	ENSG00000197102.14	transcript	ENST00000360184.10	protein_coding		1240		chr14	TogoVar
DYNC1H1_chr14_101959573_102061443	102057712	CAACACCT others(21): Show CAACACCTAACACCTAACACCTAACACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0209 a0001c0001t0026g0209	1	280	0.0036	-28	c.71 others(39): Show c.7150_*7177delAACACCTAACACCTAACACCTAACACCT	DYNC1H1	ENSG00000197102.14	transcript	ENST00000360184.10	protein_coding		1270		chr14	TogoVar
DYNC1I1_chr7_95767554_96103424	95785775	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0223 a0001c0001t0002g0223	1	230	0.0044	-28	c.-10 others(47): Show c.-10+13018_-10+13045delATATATATATATATATATATATATAT AT	DYNC1I1	ENSG00000158560.14	transcript	ENST00000447467.6	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
DYNLT4_chr1_44800893_44812351	44811100	AATTGCAG others(21): Show AATTGCAGCTACTTGAGAGGCTGAGGCAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	392	0.0026	-28	c.-38 others(39): Show c.-3870_-3843delGTGCCTCAGCCTCTCAAGTAGCTGCAAT	DYNLT4	ENSG00000188396.4	transcript	ENST00000339355.3	protein_coding		3750		chr1	TogoVar
DYRK1B_chr19_39820350_39839162	39820790	CTGAGGAT others(21): Show CTGAGGATTAAATGAGCTAATACATAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19043.hp1 NA19030.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0068 a0001c0001t0001g0069	2	372	0.0054	-28	c.48 others(39): Show c.4897_*4924delTTTTATGTATTAGCTCATTTAATCCTCA	DYRK1B	ENSG00000105204.14	transcript	ENST00000323039.10	protein_coding		4559		chr19	TogoVar
DZIP1_chr13_95573202_95649706	95610055	AGTGTGTG others(21): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0172 a0001c0001t0032g0172	1	382	0.0026	-28	c.136 others(45): Show c.1364-570_1364-543delACACACACACACACACACACACACACAC	DZIP1	ENSG00000134874.18	transcript	ENST00000376829.7	protein_coding	12/22			chr13	TogoVar
E2F3_chr6_20396879_20498714	20454143	AACAGGAG others(21): Show AACAGGAGTTATCAAAGTGTGGTCTTCCC	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	336	0.0030	-28	c.394 others(47): Show c.394-25702_394-25675delACAGGAGTTATCAAAGTGTGGTCTTC CC	E2F3	ENSG00000112242.16	transcript	ENST00000346618.8	protein_coding	1/6			chr6	TogoVar
E2F7_chr12_77016251_77070569	77019451	TTGAGTTA others(21): Show TTGAGTTAATATCTTAATATTAAGAATAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG00733.hp1 HG00738.hp1 others(73): Show HG00609.hp1 HG00733.hp1 HG00738.hp1 HG01069.hp1 HG01071.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01168.hp2 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp2 HG01258.hp2 HG01891.hp1 HG01928.hp2 HG01943.hp2 HG01993.hp2 HG02055.hp2 HG02074.hp2 HG02083.hp1 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02602.hp1 HG02630.hp1 HG02717.hp2 HG02818.hp1 HG02818.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp2 HG03453.hp1 HG03486.hp1 HG03490.hp1 HG03492.hp2 HG03704.hp1 HG03927.hp1 HG06807.hp1 NA18612.hp2 NA18941.hp1 NA18941.hp2 NA18945.hp1 NA18952.hp1 NA18954.hp2 NA18955.hp1 NA18957.hp1 NA18967.hp2 NA18970.hp2 NA18993.hp1 NA18995.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp2 NA19004.hp1 NA19012.hp1 NA19043.hp2 NA19054.hp2 NA19063.hp1 NA19084.hp1 NA19088.hp1 NA19091.hp1 NA19240.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0004 others(5): Show a0001c0001 a0001c0002 a0001c0004 a0001c0018 a0002c0003 a0002c0008 a0003c0005 a0003c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0001t0017 a0001c0002t0001 a0001c0004t0001 a0001c0004t0005 a0001c0018t0001 a0002c0003t0002 a0002c0008t0001 a0002c0008t0005 a0003c0005t0004 a0003c0005t0007 a0003c0005t0013 a0003c0014t0004	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0047 others(60): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0047 a0001c0001t0001g0111 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0243 a0001c0001t0001g0282 a0001c0001t0002g0005 a0001c0001t0002g0011 a0001c0001t0002g0023 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0041 a0001c0001t0002g0045 a0001c0001t0002g0059 a0001c0001t0002g0065 a0001c0001t0002g0068 a0001c0001t0002g0107 a0001c0001t0002g0116 a0001c0001t0002g0153 a0001c0001t0002g0213 a0001c0001t0002g0230 a0001c0001t0002g0255 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0278 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0006g0020 a0001c0001t0006g0057 a0001c0001t0006g0058 a0001c0001t0007g0215 a0001c0001t0011g0263 a0001c0001t0011g0265 a0001c0001t0017g0056 a0001c0002t0001g0260 a0001c0004t0001g0042 a0001c0004t0001g0127 a0001c0004t0001g0134 a0001c0004t0001g0156 a0001c0004t0001g0157 a0001c0004t0001g0212 a0001c0004t0001g0245 a0001c0004t0001g0273 a0001c0004t0005g0125 a0001c0004t0005g0250 a0001c0018t0001g0208 a0002c0003t0002g0035 a0002c0003t0002g0039 a0002c0008t0001g0148 a0002c0008t0001g0158 a0002c0008t0005g0037 a0003c0005t0004g0019 a0003c0005t0004g0048 a0003c0005t0004g0054 a0003c0005t0004g0055 a0003c0005t0007g0276 a0003c0005t0007g0284 a0003c0005t0013g0046 a0003c0014t0004g0052	76	394	0.1929	-28	c.45 others(39): Show c.4536_*4563delGTATTCTTAATATTAAGATATTAACTCA	E2F7	ENSG00000165891.16	transcript	ENST00000322886.12	protein_coding		1799		chr12	TogoVar
EBF1_chr5_158690920_159104916	158866833	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01074.hp1 HG01261.hp1 others(10): Show HG00639.hp2 HG01074.hp1 HG01261.hp1 HG01891.hp2 HG01928.hp1 HG01978.hp1 HG02451.hp2 HG02809.hp2 HG02970.hp2 HG03130.hp1 HG03516.hp2 HG03579.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0020 a0001c0001t0051 others(8): Show a0001c0001t0001 a0001c0001t0020 a0001c0001t0051 a0001c0001t0093 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0048 a0001c0002t0061 a0001c0002t0083 a0001c0002t0089	a0001c0001t0001g0147 a0001c0001t0020g0098 a0001c0001t0020g0166 others(10): Show a0001c0001t0001g0147 a0001c0001t0020g0098 a0001c0001t0020g0166 a0001c0001t0051g0042 a0001c0001t0093g0195 a0001c0002t0002g0089 a0001c0002t0003g0093 a0001c0002t0003g0130 a0001c0002t0005g0122 a0001c0002t0048g0032 a0001c0002t0061g0055 a0001c0002t0083g0118 a0001c0002t0089g0187	13	196	0.0663	-28	c.555 others(47): Show c.555-26751_555-26724delTATATATATATATATATATATATATA TA	EBF1	ENSG00000164330.18	transcript	ENST00000313708.11	protein_coding	6/15			chr5	TogoVar

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