Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
DYNC1I1_chr7_95767554_96103424	95846623	C C	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0022 a0001c0002t0001g0022	1	230	0.0044	14	c.374 others(33): Show c.374+18508_374+18509insGTGTGTGTGTGTGT	DYNC1I1	ENSG00000158560.14	transcript	ENST00000447467.6	protein_coding	5/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
DYNC1I1_chr7_95767554_96103424	95846625	C C	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp2 NA19082.hp2 HG03927.hp1 HG03927.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0102 a0001c0001t0001g0221 a0001c0001t0002g0108 a0001c0001t0001g0102 a0001c0001t0001g0221 a0001c0001t0002g0108	3	230	0.0130	14	c.374 others(33): Show c.374+18510_374+18511insGTGTGTGTGTGTGT	DYNC1I1	ENSG00000158560.14	transcript	ENST00000447467.6	protein_coding	5/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
DYNC1I1_chr7_95767554_96103424	95846627	C C	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	230	0.0044	14	c.374 others(33): Show c.374+18538_374+18551dupTGTGTGTGTGTGTG	DYNC1I1	ENSG00000158560.14	transcript	ENST00000447467.6	protein_coding	5/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
DYNC1I1_chr7_95767554_96103424	95936954	T T	TCACACAC others(7): Show TCACACACACACACA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	230	0.0044	14	c.491 others(33): Show c.491-40557_491-40556insACACACACACACAC	DYNC1I1	ENSG00000158560.14	transcript	ENST00000447467.6	protein_coding	6/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
DYNC1I1_chr7_95767554_96103424	95936956	T T	TCACACAC others(7): Show TCACACACACACACA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02717.hp2 HG02965.hp2 others(1): Show HG02615.hp2 HG02717.hp2 HG02965.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0001 a0001c0002t0001 a0001c0007t0002 a0001c0001t0001 a0001c0002t0001 a0001c0007t0002	a0001c0001t0001g0059 a0001c0002t0001g0061 a0001c0002t0001g0152 others(1): Show a0001c0001t0001g0059 a0001c0002t0001g0061 a0001c0002t0001g0152 a0001c0007t0002g0174	4	230	0.0174	14	c.491 others(33): Show c.491-40535_491-40522dupCACACACACACACA	DYNC1I1	ENSG00000158560.14	transcript	ENST00000447467.6	protein_coding	6/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
DYNC1I1_chr7_95767554_96103424	95936956	T T	TCTCACAC others(7): Show TCTCACACACACACA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01074.hp2 HG02145.hp1 others(16): Show HG00738.hp2 HG01074.hp2 HG02145.hp1 HG02145.hp2 HG02258.hp2 HG02572.hp1 HG02622.hp1 HG02630.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG03098.hp2 HG03195.hp1 HG03225.hp1 HG03540.hp2 HG03579.hp2 NA18968.hp2 NA19043.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0002c0005t0001	a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0052 others(16): Show a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0052 a0001c0001t0001g0063 a0001c0001t0001g0085 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0132 a0001c0001t0001g0158 a0001c0001t0002g0062 a0001c0001t0002g0068 a0001c0002t0001g0027 a0001c0002t0001g0121 a0001c0002t0001g0129 a0001c0003t0001g0134 a0001c0004t0001g0069 a0001c0004t0001g0101 a0001c0004t0001g0133 a0002c0005t0001g0036	19	230	0.0826	14	c.491 others(33): Show c.491-40555_491-40554insTCACACACACACAC	DYNC1I1	ENSG00000158560.14	transcript	ENST00000447467.6	protein_coding	6/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
DYNC1I1_chr7_95767554_96103424	95954915	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0125 a0001c0003t0002g0125	1	230	0.0044	14	c.491 others(33): Show c.491-22587_491-22574dupAAAAAAAAAAAAAA	DYNC1I1	ENSG00000158560.14	transcript	ENST00000447467.6	protein_coding	6/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
DYNC1I1_chr7_95767554_96103424	95968824	C C	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	230	0.0044	14	c.491 others(31): Show c.491-8654_491-8641dupGTGTGTGTGTGTGT	DYNC1I1	ENSG00000158560.14	transcript	ENST00000447467.6	protein_coding	6/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
DYNC1I1_chr7_95767554_96103424	95986023	C C	CGTGTGTG others(7): Show CGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01099.hp2 HG01106.hp1 others(12): Show HG00558.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01346.hp2 HG03130.hp2 HG04184.hp2 NA18522.hp2 NA18612.hp2 NA18966.hp2 NA18990.hp1 NA18998.hp1 NA18998.hp2 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 a0001c0003t0001 a0001c0003t0002	a0001c0001t0001g0009 a0001c0001t0001g0045 a0001c0001t0001g0047 others(12): Show a0001c0001t0001g0009 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0098 a0001c0001t0001g0104 a0001c0001t0001g0131 a0001c0001t0001g0195 a0001c0001t0001g0214 a0001c0001t0004g0191 a0001c0002t0001g0022 a0001c0002t0001g0076 a0001c0002t0001g0143 a0001c0003t0001g0002 a0001c0003t0001g0213 a0001c0003t0002g0125	15	230	0.0652	14	c.744 others(30): Show c.744-1006_744-993dupGTGTGTGTGTGTGT	DYNC1I1	ENSG00000158560.14	transcript	ENST00000447467.6	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
DYNC1I1_chr7_95767554_96103424	96100650	T T	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG01123.hp2 HG03098.hp2 others(8): Show HG00738.hp1 HG01123.hp2 HG03098.hp2 HG03195.hp1 NA18994.hp2 NA19004.hp1 NA19005.hp2 NA19063.hp1 NA19082.hp1 NA19082.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0001 a0001c0002t0001 a0001c0006t0001 a0001c0001t0001 a0001c0002t0001 a0001c0006t0001	a0001c0001t0001g0102 a0001c0001t0001g0109 a0001c0001t0001g0128 others(8): Show a0001c0001t0001g0102 a0001c0001t0001g0109 a0001c0001t0001g0128 a0001c0001t0001g0141 a0001c0001t0001g0144 a0001c0001t0001g0150 a0001c0001t0001g0162 a0001c0001t0001g0184 a0001c0002t0001g0129 a0001c0002t0001g0218 a0001c0006t0001g0089	11	230	0.0478	14	c.30 others(25): Show c.3057_*3058insTGTGTGTGTGTGTG	DYNC1I1	ENSG00000158560.14	transcript	ENST00000447467.6	protein_coding		2227		chr7	TogoVar
DYNC1I2_chr2_171682469_171755158	171747207	T T	TTATATAT others(7): Show TTATATATATATATA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0153 a0001c0001t0005g0153	1	334	0.0030	14	c.180 others(31): Show c.1804-557_1804-544dupATATATATATATAT	DYNC1I2	ENSG00000077380.16	transcript	ENST00000397119.8	protein_coding	17/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYNC1LI1_chr3_32520974_32575858	32532478	A A	AATGTGTA others(7): Show AATGTGTATATATAT	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0068 a0001c0001t0005g0068	1	336	0.0030	14	c.108 others(31): Show c.1080+507_1080+508insATATATATACACAT	DYNC1LI1	ENSG00000144635.9	transcript	ENST00000273130.9	protein_coding	8/12			chr3	TogoVar
DYNC2H1_chr11_103104426_103484863	103453615	C C	CATATATA others(7): Show CATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	262	0.0038	14	c.124 others(35): Show c.12457-1557_12457-1544dupTATATATATATATA	DYNC2H1	ENSG00000187240.17	transcript	ENST00000375735.7	protein_coding	85/88		INFO_REALIGN_3_PRIME	chr11	TogoVar
DYNC2H1_chr11_103104426_103484863	103483022	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 HG01884.hp1 HG00621.hp2 HG01884.hp1	a0003 a0008 a0003 a0008	a0003c0002 a0008c0020 a0003c0002 a0008c0020	a0003c0002t0001 a0008c0020t0001 a0003c0002t0001 a0008c0020t0001	a0003c0002t0001g0152 a0008c0020t0001g0248 a0003c0002t0001g0152 a0008c0020t0001g0248	2	262	0.0076	14	c.37 others(25): Show c.3769_*3770insAAAAAAAAAAAAAA	DYNC2H1	ENSG00000187240.17	transcript	ENST00000375735.7	protein_coding		3160		chr11	TogoVar
DYNC2I1_chr7_158851558_158951189	158937622	G G	GAAAAAAA others(7): Show GAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02486.hp1 NA18906.hp2 others(2): Show HG02109.hp1 HG02486.hp1 NA18906.hp2 NA20300.hp1 NA21309.hp1	a0002 a0020 a0002 a0020	a0002c0002 a0020c0011 a0002c0002 a0020c0011	a0002c0002t0001 a0020c0011t0001 a0002c0002t0001 a0020c0011t0001	a0002c0002t0001g0015 a0002c0002t0001g0069 a0002c0002t0001g0091 others(2): Show a0002c0002t0001g0015 a0002c0002t0001g0069 a0002c0002t0001g0091 a0002c0002t0001g0101 a0020c0011t0001g0038	5	274	0.0183	14	c.277 others(33): Show c.2778+3086_2778+3087insAAAAAAAAAAAAAA	DYNC2I1	ENSG00000126870.16	transcript	ENST00000407559.8	protein_coding	23/24		INFO_REALIGN_3_PRIME	chr7	TogoVar
DYNC2I2_chr9_128628653_128661847	128655335	T T	TAAAAAAA others(7): Show TAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00639.hp1 HG00735.hp1 others(21): Show HG00438.hp2 HG00639.hp1 HG00735.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp2 HG01361.hp1 HG01981.hp1 HG02015.hp1 HG02071.hp2 HG02572.hp2 HG02738.hp2 HG03540.hp2 HG03654.hp2 HG03688.hp1 NA18949.hp1 NA18952.hp2 NA18963.hp1 NA18972.hp1 NA18979.hp1 NA18998.hp2 NA19066.hp2 NA19079.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0003c0015	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0006t0001 a0003c0015t0001	a0001c0001t0001g0021 a0001c0001t0001g0149 a0001c0001t0001g0150 others(20): Show a0001c0001t0001g0021 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0274 a0001c0001t0001g0278 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0003t0001g0049 a0001c0003t0001g0054 a0001c0006t0001g0279 a0003c0015t0001g0048	24	368	0.0652	14	c.186 others(31): Show c.186+1192_186+1205dupTTTTTTTTTTTTTT	DYNC2I2	ENSG00000119333.12	transcript	ENST00000372715.7	protein_coding	1/8			chr9	TogoVar
DYNC2LI1_chr2_43769039_43815010	43775854	A A	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03486.hp2 NA18522.hp1 others(3): Show HG02572.hp2 HG03486.hp2 NA18522.hp1 NA19010.hp1 NA19012.hp1 NA19012.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0004 a0002c0002t0002 a0002c0002t0004	a0002c0002t0002g0144 a0002c0002t0004g0003 a0002c0002t0004g0114 others(1): Show a0002c0002t0002g0144 a0002c0002t0004g0003 a0002c0002t0004g0114 a0002c0002t0004g0118	6	294	0.0204	14	c.9-9 others(25): Show c.9-911_9-898dupTTTTTTTTTTTTTT	DYNC2LI1	ENSG00000138036.18	transcript	ENST00000260605.12	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYNC2LI1_chr2_43769039_43815010	43782009	C C	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0002 a0006c0006t0002	a0006c0006t0002g0243 a0006c0006t0002g0243	1	294	0.0034	14	c.127 others(31): Show c.127-1510_127-1509insGTGTGTGTGTGTGT	DYNC2LI1	ENSG00000138036.18	transcript	ENST00000260605.12	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYNC2LI1_chr2_43769039_43815010	43782011	A A	ATGTGTGT others(7): Show ATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01099.hp1 HG02559.hp1 others(3): Show HG00642.hp1 HG01099.hp1 HG02559.hp1 HG02717.hp2 HG03540.hp2 NA19043.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0003 a0002c0002t0002 a0002c0002t0003	a0002c0002t0002g0007 a0002c0002t0002g0038 a0002c0002t0002g0039 others(2): Show a0002c0002t0002g0007 a0002c0002t0002g0038 a0002c0002t0002g0039 a0002c0002t0002g0123 a0002c0002t0003g0040	6	294	0.0204	14	c.127 others(31): Show c.127-1497_127-1484dupGTGTGTGTGTGTGT	DYNC2LI1	ENSG00000138036.18	transcript	ENST00000260605.12	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYNLT1_chr6_158631474_158649743	158636069	A A	ATATATAA others(7): Show ATATATAATTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	396	0.0025	14	c.75 others(23): Show c.757_*758insAAAAAAATTATATA	DYNLT1	ENSG00000146425.11	transcript	ENST00000367089.8	protein_coding		404		chr6	TogoVar
DYNLT1_chr6_158631474_158649743	158636069	A A	ATATATAT others(7): Show ATATATATATTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	396	0.0025	14	c.75 others(23): Show c.757_*758insAAAAAATATATATA	DYNLT1	ENSG00000146425.11	transcript	ENST00000367089.8	protein_coding		404		chr6	TogoVar
DYNLT1_chr6_158631474_158649743	158636069	A A	ATATATAT others(7): Show ATATATATTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp2 NA19087.hp2 HG02040.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	396	0.0051	14	c.75 others(23): Show c.757_*758insAAAAAAAATATATA	DYNLT1	ENSG00000146425.11	transcript	ENST00000367089.8	protein_coding		404		chr6	TogoVar
DYNLT2B_chr3_196286219_196323240	196316890	A A	AGTGTGTG others(7): Show AGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(13): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00735.hp2 HG01167.hp2 HG01168.hp2 HG01243.hp1 HG01261.hp1 HG02300.hp2 HG03239.hp2 HG03516.hp1 HG03654.hp1 HG03669.hp2 HG03688.hp1 NA18975.hp2 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0044 a0001c0001t0001g0048 others(9): Show a0001c0001t0001g0008 a0001c0001t0001g0044 a0001c0001t0001g0048 a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0184 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206	16	330	0.0485	14	c.114 others(29): Show c.114-673_114-660dupACACACACACACAC	DYNLT2B	ENSG00000213123.11	transcript	ENST00000325318.10	protein_coding	1/4			chr3	TogoVar
DYRK1A_chr21_37361773_37531358	37417529	C C	CTTTTTCT others(7): Show CTTTTTCTTTTTCTT	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02630.hp2 HG02922.hp1 others(2): Show HG02083.hp1 HG02630.hp2 HG02922.hp1 HG02965.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0023 a0001c0001t0155 a0001c0001t0002 a0001c0001t0023 a0001c0001t0155	a0001c0001t0002g0186 a0001c0001t0023g0013 a0001c0001t0023g0015 others(2): Show a0001c0001t0002g0186 a0001c0001t0023g0013 a0001c0001t0023g0015 a0001c0001t0023g0016 a0001c0001t0155g0014	5	350	0.0143	14	c.-76 others(31): Show c.-76-2765_-76-2764insCTTTTTCTTTTTTT	DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr21	TogoVar
DYRK1A_chr21_37361773_37531358	37440130	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01169.hp1 HG01257.hp1 others(6): Show HG01071.hp1 HG01169.hp1 HG01257.hp1 HG01496.hp2 HG01943.hp2 HG01981.hp1 NA18965.hp1 NA19076.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0001c0001t0080 a0001c0001t0100 others(3): Show a0001c0001t0001 a0001c0001t0080 a0001c0001t0100 a0001c0001t0102 a0001c0001t0106 a0002c0004t0032	a0001c0001t0001g0056 a0001c0001t0001g0060 a0001c0001t0001g0064 others(6): Show a0001c0001t0001g0056 a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0104 a0001c0001t0080g0089 a0001c0001t0100g0051 a0001c0001t0102g0055 a0001c0001t0106g0062 a0002c0004t0032g0086	9	350	0.0257	14	c.10+ others(31): Show c.10+19756_10+19769dupTTTTTTTTTTTTTT	DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr21	TogoVar
DYRK1A_chr21_37361773_37531358	37454085	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02970.hp2 HG03516.hp2 others(3): Show HG00423.hp2 HG02970.hp2 HG03516.hp2 NA18964.hp1 NA18972.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0021 a0001c0001t0147 a0001c0001t0007 a0001c0001t0021 a0001c0001t0147	a0001c0001t0007g0135 a0001c0001t0007g0137 a0001c0001t0007g0146 others(3): Show a0001c0001t0007g0135 a0001c0001t0007g0137 a0001c0001t0007g0146 a0001c0001t0021g0245 a0001c0001t0021g0246 a0001c0001t0147g0143	6	350	0.0171	14	c.11- others(31): Show c.11-18587_11-18574dupTTTTTTTTTTTTTT	DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr21	TogoVar
DYRK1A_chr21_37361773_37531358	37458268	C C	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01070.hp2 HG01515.hp1 others(8): Show HG00558.hp2 HG01070.hp2 HG01515.hp1 HG01891.hp1 HG01993.hp2 HG03831.hp1 NA18906.hp2 NA18972.hp1 NA19081.hp1 NA19084.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0025 others(7): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0025 a0001c0001t0044 a0001c0001t0051 a0001c0001t0053 a0001c0001t0091 a0001c0001t0105 a0001c0001t0151 a0001c0001t0163	a0001c0001t0002g0111 a0001c0001t0002g0113 a0001c0001t0007g0139 others(8): Show a0001c0001t0002g0111 a0001c0001t0002g0113 a0001c0001t0007g0139 a0001c0001t0025g0042 a0001c0001t0044g0251 a0001c0001t0051g0129 a0001c0001t0053g0255 a0001c0001t0091g0157 a0001c0001t0105g0028 a0001c0001t0151g0260 a0001c0001t0163g0171	11	350	0.0314	14	c.11- others(31): Show c.11-14390_11-14377dupGTGTGTGTGTGTGT	DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr21	TogoVar
DYRK1A_chr21_37361773_37531358	37463203	C C	CGTGTGTG others(7): Show CGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00609.hp2 HG00673.hp1 others(46): Show HG00558.hp2 HG00609.hp2 HG00673.hp1 HG00733.hp2 HG01070.hp2 HG01071.hp1 HG01106.hp1 HG01109.hp1 HG01257.hp1 HG01361.hp1 HG01496.hp2 HG01516.hp2 HG01884.hp1 HG01943.hp2 HG01981.hp1 HG02004.hp2 HG02015.hp2 HG02074.hp1 HG02083.hp2 HG02132.hp1 HG02559.hp2 HG02622.hp1 HG02630.hp2 HG02717.hp1 HG02735.hp1 HG02738.hp1 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG03486.hp1 HG03491.hp1 HG03516.hp1 HG03579.hp1 HG03834.hp1 HG03927.hp2 NA18954.hp1 NA18957.hp1 NA18960.hp2 NA18967.hp1 NA18978.hp2 NA19007.hp1 NA19060.hp1 NA19074.hp1 NA19076.hp1 NA19080.hp2 NA19085.hp1 NA19086.hp1 NA19240.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(27): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0023 a0001c0001t0026 a0001c0001t0065 a0001c0001t0069 a0001c0001t0071 a0001c0001t0085 a0001c0001t0090 a0001c0001t0093 a0001c0001t0094 a0001c0001t0095 a0001c0001t0098 a0001c0001t0101 a0001c0001t0102 a0001c0001t0105 a0001c0001t0106 a0001c0001t0112 a0001c0001t0114 a0001c0001t0115 a0001c0001t0145 a0001c0001t0155 a0001c0001t0156 a0001c0001t0166 a0002c0004t0032	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0011 others(46): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0001g0049 a0001c0001t0001g0056 a0001c0001t0001g0060 a0001c0001t0001g0069 a0001c0001t0001g0075 a0001c0001t0001g0082 a0001c0001t0001g0087 a0001c0001t0001g0091 a0001c0001t0001g0095 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0005g0151 a0001c0001t0005g0158 a0001c0001t0005g0162 a0001c0001t0005g0163 a0001c0001t0007g0139 a0001c0001t0013g0155 a0001c0001t0013g0268 a0001c0001t0014g0079 a0001c0001t0015g0259 a0001c0001t0016g0020 a0001c0001t0023g0013 a0001c0001t0023g0016 a0001c0001t0026g0019 a0001c0001t0065g0085 a0001c0001t0069g0031 a0001c0001t0071g0030 a0001c0001t0085g0292 a0001c0001t0090g0063 a0001c0001t0093g0252 a0001c0001t0094g0006 a0001c0001t0095g0084 a0001c0001t0098g0009 a0001c0001t0101g0149 a0001c0001t0102g0055 a0001c0001t0105g0028 a0001c0001t0106g0062 a0001c0001t0112g0164 a0001c0001t0114g0066 a0001c0001t0115g0159 a0001c0001t0145g0142 a0001c0001t0155g0014 a0001c0001t0156g0010 a0001c0001t0166g0032 a0002c0004t0032g0086	49	350	0.1400	14	c.11- others(29): Show c.11-9464_11-9451dupGTGTGTGTGTGTGT	DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr21	TogoVar
DYRK1A_chr21_37361773_37531358	37479600	G G	GTTTTTTT others(7): Show GTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0092 a0001c0001t0092	a0001c0001t0092g0098 a0001c0001t0092g0098	1	350	0.0029	14	c.301 others(31): Show c.301-1033_301-1032insTTTTTTTTTTTTTT	DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr21	TogoVar
DYRK1A_chr21_37361773_37531358	37479606	G G	GTTTTTTT others(7): Show GTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	350	0.0029	14	c.301 others(31): Show c.301-1027_301-1026insTTTTTTTTTTTTTT	DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr21	TogoVar
DYRK1A_chr21_37361773_37531358	37479612	G G	GTTTTTGT others(7): Show GTTTTTGTTTTTGTT	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG04199.hp2 HG03490.hp1 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0180 a0001c0001t0002g0188 a0001c0001t0002g0180 a0001c0001t0002g0188	2	350	0.0057	14	c.301 others(31): Show c.301-1021_301-1020insGTTTTTGTTTTTTT	DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr21	TogoVar
DYRK1A_chr21_37361773_37531358	37501166	G G	GTTTTTTT others(7): Show GTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02572.hp1 HG03139.hp1 others(1): Show HG00639.hp2 HG02572.hp1 HG03139.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0061 a0001c0001t0062 a0001c0001t0157 others(1): Show a0001c0001t0061 a0001c0001t0062 a0001c0001t0157 a0001c0001t0171	a0001c0001t0061g0022 a0001c0001t0062g0024 a0001c0001t0157g0297 others(1): Show a0001c0001t0061g0022 a0001c0001t0062g0024 a0001c0001t0157g0297 a0001c0001t0171g0323	4	350	0.0114	14	c.121 others(33): Show c.1213-4107_1213-4094dupTTTTTTTTTTTTTT	DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr21	TogoVar
DYRK4_chr12_4557208_4618875	4575298	A A	ATTGTGTG others(7): Show ATTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0004 a0004	a0004c0036 a0004c0036	a0004c0036t0001 a0004c0036t0001	a0004c0036t0001g0123 a0004c0036t0001g0123	1	414	0.0024	14	c.132 others(31): Show c.132+7250_132+7251insTTGTGTGTGTGTGT	DYRK4	ENSG00000010219.14	transcript	ENST00000543431.6	protein_coding	2/14			chr12	TogoVar
DYRK4_chr12_4557208_4618875	4575298	A A	ATTTTGTG others(7): Show ATTTTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG01168.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0264 a0001c0001t0001g0265	2	414	0.0048	14	c.132 others(31): Show c.132+7250_132+7251insTTTTGTGTGTGTGT	DYRK4	ENSG00000010219.14	transcript	ENST00000543431.6	protein_coding	2/14			chr12	TogoVar
DYRK4_chr12_4557208_4618875	4586729	C C	CACACACA others(7): Show CACACACACACACAG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02602.hp1 HG02647.hp2 others(4): Show HG02486.hp1 HG02602.hp1 HG02647.hp2 HG02809.hp2 HG02886.hp1 HG02976.hp2 NA19083.hp2	a0001 a0004 a0001 a0004	a0001c0003 a0001c0008 a0001c0009 others(2): Show a0001c0003 a0001c0008 a0001c0009 a0001c0014 a0004c0011	a0001c0003t0001 a0001c0008t0001 a0001c0009t0001 others(2): Show a0001c0003t0001 a0001c0008t0001 a0001c0009t0001 a0001c0014t0001 a0004c0011t0001	a0001c0003t0001g0353 a0001c0008t0001g0293 a0001c0008t0001g0349 others(4): Show a0001c0003t0001g0353 a0001c0008t0001g0293 a0001c0008t0001g0349 a0001c0009t0001g0250 a0001c0009t0001g0362 a0001c0014t0001g0214 a0004c0011t0001g0336	7	414	0.0169	14	c.133 others(31): Show c.133-2205_133-2204insCACACACACAGACA	DYRK4	ENSG00000010219.14	transcript	ENST00000543431.6	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
DYRK4_chr12_4557208_4618875	4601876	T T	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01346.hp2 HG02083.hp1 others(1): Show HG01168.hp2 HG01346.hp2 HG02083.hp1 HG02622.hp1	a0001 a0003 a0001 a0003	a0001c0003 a0001c0010 a0003c0021 a0001c0003 a0001c0010 a0003c0021	a0001c0003t0001 a0001c0010t0001 a0003c0021t0001 a0001c0003t0001 a0001c0010t0001 a0003c0021t0001	a0001c0003t0001g0375 a0001c0010t0001g0194 a0003c0021t0001g0327 others(1): Show a0001c0003t0001g0375 a0001c0010t0001g0194 a0003c0021t0001g0327 a0003c0021t0001g0328	4	414	0.0097	14	c.112 others(33): Show c.1126+2110_1126+2123dupGTGTGTGTGTGTGT	DYRK4	ENSG00000010219.14	transcript	ENST00000543431.6	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
DYSF_chr2_71448561_71691763	71511765	G G	GGGCAGTG others(7): Show GGGCAGTGGTCCGAT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02976.hp1 HG03195.hp1 others(5): Show HG02280.hp2 HG02976.hp1 HG03195.hp1 HG03209.hp2 HG03579.hp2 HG06807.hp2 NA18906.hp2 NA19240.hp1	a0001 a0005 a0007 others(2): Show a0001 a0005 a0007 a0022 a0025	a0001c0009 a0001c0041 a0005c0040 others(3): Show a0001c0009 a0001c0041 a0005c0040 a0007c0028 a0022c0044 a0025c0065	a0001c0009t0001 a0001c0009t0002 a0001c0041t0002 others(4): Show a0001c0009t0001 a0001c0009t0002 a0001c0041t0002 a0005c0040t0002 a0007c0028t0004 a0022c0044t0002 a0025c0065t0001	a0001c0009t0001g0053 a0001c0009t0001g0103 a0001c0009t0002g0025 others(5): Show a0001c0009t0001g0053 a0001c0009t0001g0103 a0001c0009t0002g0025 a0001c0041t0002g0144 a0005c0040t0002g0013 a0007c0028t0004g0047 a0022c0044t0002g0148 a0025c0065t0001g0002	8	192	0.0417	14	c.343 others(27): Show c.343-41_343-40insGCAGTGGTCCGATG	DYSF	ENSG00000135636.16	transcript	ENST00000258104.8	protein_coding	4/54		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71448561_71691763	71572231	A A	ACACAGAT others(7): Show ACACAGATCACACCC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01891.hp1 HG02615.hp2 others(20): Show HG01099.hp1 HG01891.hp1 HG02615.hp2 HG02630.hp1 HG02717.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03209.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03540.hp2 HG06807.hp1 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA19043.hp2 NA20129.hp1 NA20300.hp1 NA20805.hp1 NA21309.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0005 a0007 a0013 a0018 a0026	a0001c0001 a0001c0003 a0001c0004 others(15): Show a0001c0001 a0001c0003 a0001c0004 a0001c0007 a0001c0010 a0001c0019 a0001c0041 a0001c0047 a0001c0051 a0001c0052 a0001c0073 a0002c0023 a0003c0082 a0005c0060 a0007c0028 a0013c0035 a0018c0059 a0026c0069	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0004t0001 a0001c0007t0002 a0001c0010t0002 a0001c0019t0001 a0001c0041t0002 a0001c0047t0002 a0001c0051t0002 a0001c0052t0001 a0001c0073t0001 a0002c0023t0001 a0003c0082t0003 a0005c0060t0002 a0007c0028t0004 a0013c0035t0001 a0018c0059t0001 a0026c0069t0001	a0001c0001t0001g0045 a0001c0001t0001g0069 a0001c0001t0001g0095 others(20): Show a0001c0001t0001g0045 a0001c0001t0001g0069 a0001c0001t0001g0095 a0001c0001t0002g0018 a0001c0003t0001g0091 a0001c0004t0001g0149 a0001c0007t0002g0014 a0001c0007t0002g0016 a0001c0007t0002g0142 a0001c0010t0002g0026 a0001c0019t0001g0044 a0001c0041t0002g0144 a0001c0047t0002g0183 a0001c0051t0002g0015 a0001c0052t0001g0009 a0001c0073t0001g0005 a0002c0023t0001g0072 a0003c0082t0003g0185 a0005c0060t0002g0143 a0007c0028t0004g0047 a0013c0035t0001g0051 a0018c0059t0001g0093 a0026c0069t0001g0189	23	192	0.1198	14	c.317 others(33): Show c.3174+1490_3174+1491insCACAGATCACACCC	DYSF	ENSG00000135636.16	transcript	ENST00000258104.8	protein_coding	29/54			chr2	TogoVar
DYSF_chr2_71461699_71691763	71511765	G G	GGGCAGTG others(7): Show GGGCAGTGGTCCGAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02976.hp2 HG03195.hp2 others(5): Show HG02280.hp1 HG02976.hp2 HG03195.hp2 HG03209.hp2 HG03579.hp1 HG06807.hp2 NA18906.hp1 NA19240.hp2	a0001 a0006 a0009 others(2): Show a0001 a0006 a0009 a0024 a0028	a0001c0012 a0001c0042 a0006c0076 others(3): Show a0001c0012 a0001c0042 a0006c0076 a0009c0029 a0024c0045 a0028c0068	a0001c0012t0001 a0001c0042t0001 a0006c0076t0004 others(3): Show a0001c0012t0001 a0001c0042t0001 a0006c0076t0004 a0009c0029t0005 a0024c0045t0001 a0028c0068t0001	a0001c0012t0001g0033 a0001c0012t0001g0147 a0001c0012t0001g0208 others(5): Show a0001c0012t0001g0033 a0001c0012t0001g0147 a0001c0012t0001g0208 a0001c0042t0001g0141 a0006c0076t0004g0019 a0009c0029t0005g0084 a0024c0045t0001g0093 a0028c0068t0001g0202	8	208	0.0385	14	c.346 others(27): Show c.346-41_346-40insGCAGTGGTCCGATG	DYSF	ENSG00000135636.16	transcript	ENST00000410020.8	protein_coding	4/55		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71461699_71691763	71572231	A A	ACACAGAT others(7): Show ACACAGATCACACCC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01891.hp2 HG02615.hp2 others(20): Show HG01099.hp1 HG01891.hp2 HG02615.hp2 HG02630.hp1 HG02717.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03209.hp2 HG03453.hp1 HG03471.hp1 HG03540.hp1 HG03654.hp1 HG06807.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA19043.hp2 NA20129.hp2 NA20300.hp2 NA20805.hp1 NA21309.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0006 a0009 a0020 a0029	a0001c0001 a0001c0002 a0001c0003 others(15): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0010 a0001c0019 a0001c0042 a0001c0048 a0001c0052 a0001c0053 a0001c0074 a0001c0078 a0002c0023 a0003c0088 a0006c0063 a0009c0029 a0020c0062 a0029c0072	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(16): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0007t0001 a0001c0007t0004 a0001c0010t0001 a0001c0019t0002 a0001c0042t0001 a0001c0048t0002 a0001c0052t0004 a0001c0053t0001 a0001c0074t0001 a0001c0078t0001 a0002c0023t0001 a0003c0088t0006 a0006c0063t0001 a0009c0029t0005 a0020c0062t0001 a0029c0072t0001	a0001c0001t0001g0037 a0001c0001t0001g0049 a0001c0001t0001g0082 others(20): Show a0001c0001t0001g0037 a0001c0001t0001g0049 a0001c0001t0001g0082 a0001c0001t0001g0119 a0001c0002t0001g0052 a0001c0003t0001g0043 a0001c0007t0001g0139 a0001c0007t0004g0020 a0001c0007t0004g0022 a0001c0010t0001g0035 a0001c0019t0002g0187 a0001c0042t0001g0141 a0001c0048t0002g0190 a0001c0052t0004g0021 a0001c0053t0001g0206 a0001c0074t0001g0094 a0001c0078t0001g0199 a0002c0023t0001g0123 a0003c0088t0006g0192 a0006c0063t0001g0140 a0009c0029t0005g0084 a0020c0062t0001g0045 a0029c0072t0001g0144	23	208	0.1106	14	c.322 others(33): Show c.3228+1490_3228+1491insCACAGATCACACCC	DYSF	ENSG00000135636.16	transcript	ENST00000410020.8	protein_coding	29/55			chr2	TogoVar
DYTN_chr2_206646621_206723396	206647632	G G	GACACACA others(7): Show GACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00741.hp2 HG02135.hp2 others(6): Show HG00423.hp1 HG00741.hp2 HG02135.hp2 HG02735.hp2 HG02965.hp1 HG03195.hp1 NA19054.hp2 NA19057.hp2 NA19075.hp2	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0002c0002 a0009c0009 a0001c0001 a0002c0002 a0009c0009	a0001c0001t0001 a0002c0002t0001 a0009c0009t0001 a0001c0001t0001 a0002c0002t0001 a0009c0009t0001	a0001c0001t0001g0053 a0001c0001t0001g0185 a0001c0001t0001g0309 others(6): Show a0001c0001t0001g0053 a0001c0001t0001g0185 a0001c0001t0001g0309 a0001c0001t0001g0361 a0001c0001t0001g0363 a0002c0002t0001g0099 a0002c0002t0001g0106 a0009c0009t0001g0070 a0009c0009t0001g0205	9	382	0.0236	14	c.41 others(25): Show c.4172_*4185dupGTGTGTGTGTGTGT	DYTN	ENSG00000232125.5	transcript	ENST00000452335.2	protein_coding		3988		chr2	TogoVar
DYTN_chr2_206646621_206723396	206651371	T T	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01943.hp1 HG02109.hp2 HG02451.hp1 others(4): Show HG01943.hp1 HG02109.hp2 HG02451.hp1 HG02622.hp1 HG02723.hp1 NA18994.hp1 NA20905.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0004c0005	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 others(1): Show a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0004c0005t0001	a0001c0001t0001g0080 a0002c0002t0001g0007 a0002c0002t0001g0124 others(4): Show a0001c0001t0001g0080 a0002c0002t0001g0007 a0002c0002t0001g0124 a0002c0002t0001g0254 a0003c0003t0001g0161 a0003c0003t0001g0329 a0004c0005t0001g0116	7	382	0.0183	14	c.44 others(23): Show c.446_*447insCACACACACACACA	DYTN	ENSG00000232125.5	transcript	ENST00000452335.2	protein_coding		249		chr2	TogoVar
DYTN_chr2_206646621_206723396	206675115	A A	ATATGTGT others(7): Show ATATGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0013 a0013	a0013c0021 a0013c0021	a0013c0021t0001 a0013c0021t0001	a0013c0021t0001g0202 a0013c0021t0001g0202	1	382	0.0026	14	c.981 others(31): Show c.981-9087_981-9086insCACACACACACATA	DYTN	ENSG00000232125.5	transcript	ENST00000452335.2	protein_coding	9/11			chr2	TogoVar
DYTN_chr2_206646621_206723396	206675145	G G	GTGTGTGT others(7): Show GTGTGTGTGTGTATA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG04228.hp1 NA18957.hp1 others(3): Show HG00544.hp2 HG04228.hp1 NA18957.hp1 NA18975.hp1 NA20752.hp2 NA20905.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0152 others(3): Show a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0152 a0002c0002t0001g0264 a0002c0002t0001g0265 a0002c0002t0001g0267	6	382	0.0157	14	c.981 others(31): Show c.981-9117_981-9116insTATACACACACACA	DYTN	ENSG00000232125.5	transcript	ENST00000452335.2	protein_coding	9/11			chr2	TogoVar
DYTN_chr2_206646621_206723396	206675145	G G	GTGTGTGT others(7): Show GTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0359 a0002c0002t0001g0359	1	382	0.0026	14	c.981 others(31): Show c.981-9117_981-9116insTACACACACACACA	DYTN	ENSG00000232125.5	transcript	ENST00000452335.2	protein_coding	9/11			chr2	TogoVar
DYTN_chr2_206646621_206723396	206717043	A A	AACACACA others(7): Show AACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01175.hp2 HG01255.hp1 others(18): Show HG00733.hp1 HG01175.hp2 HG01255.hp1 HG01358.hp2 HG02027.hp2 HG02056.hp1 HG02300.hp1 HG02738.hp2 HG03098.hp2 HG03490.hp2 HG03492.hp2 HG03654.hp2 HG03831.hp2 HG04228.hp2 NA18906.hp1 NA18944.hp1 NA18968.hp2 NA18970.hp1 NA18998.hp1 NA19004.hp2 NA19072.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0009 a0001c0001t0001g0042 a0001c0001t0001g0043 others(17): Show a0001c0001t0001g0009 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0326 a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0001g0346 a0002c0002t0001g0045 a0002c0002t0001g0047 a0002c0002t0001g0050 a0002c0002t0001g0325 a0002c0002t0001g0327	21	382	0.0550	14	c.19+ others(29): Show c.19+1204_19+1217dupGTGTGTGTGTGTGT	DYTN	ENSG00000232125.5	transcript	ENST00000452335.2	protein_coding	1/11			chr2	TogoVar
DYTN_chr2_206646621_206723396	206721181	A A	AATAATAA others(7): Show AATAATAATAATAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0347 a0002c0002t0001g0347	1	382	0.0026	14	c.-29 others(25): Show c.-2903_-2902insATTATTATTATTAT	DYTN	ENSG00000232125.5	transcript	ENST00000452335.2	protein_coding		2786		chr2	TogoVar
DZANK1_chr20_18378367_18472030	18427606	G G	GGTGTGTG others(7): Show GGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0146 a0006c0009t0001g0146	1	374	0.0027	14	c.919 others(29): Show c.919-461_919-448dupACACACACACACAC	DZANK1	ENSG00000089091.17	transcript	ENST00000699568.1	protein_coding	9/20			chr20	TogoVar
DZANK1_chr20_18378367_18472030	18465406	A A	ATGTGCAC others(7): Show ATGTGCACTTATAGC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(367): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19083.hp1 NA19083.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(15): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018	a0001c0001 a0001c0002 a0001c0006 others(31): Show a0001c0001 a0001c0002 a0001c0006 a0001c0007 a0001c0010 a0001c0015 a0001c0020 a0001c0024 a0001c0025 a0001c0032 a0002c0004 a0002c0005 a0002c0022 a0003c0003 a0003c0016 a0003c0017 a0003c0018 a0004c0012 a0004c0014 a0004c0027 a0005c0008 a0006c0009 a0007c0011 a0008c0013 a0009c0019 a0010c0029 a0011c0021 a0012c0026 a0013c0035 a0014c0033 a0015c0031 a0016c0023 a0017c0028 a0018c0030	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(54): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 a0001c0006t0001 a0001c0007t0002 a0001c0007t0003 a0001c0007t0004 a0001c0007t0008 a0001c0007t0012 a0001c0007t0013 a0001c0010t0001 a0001c0015t0004 a0001c0015t0010 a0001c0020t0001 a0001c0024t0001 a0001c0025t0001 a0001c0032t0001 a0002c0004t0001 a0002c0004t0003 a0002c0004t0008 a0002c0004t0014 a0002c0004t0015 a0002c0005t0001 a0002c0005t0003 a0002c0022t0001 a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 a0003c0016t0002 a0003c0017t0001 a0003c0018t0001 a0004c0012t0001 a0004c0014t0001 a0004c0027t0008 a0005c0008t0001 a0005c0008t0003 a0006c0009t0001 a0006c0009t0005 a0007c0011t0007 a0008c0013t0001 a0009c0019t0002 a0010c0029t0005 a0011c0021t0002 a0012c0026t0003 a0013c0035t0011 a0014c0033t0001 a0015c0031t0003 a0016c0023t0001 a0017c0028t0001 a0018c0030t0005	a0001c0001t0001g0285 a0001c0001t0001g0293 a0001c0001t0001g0333 others(336): Show a0001c0001t0001g0285 a0001c0001t0001g0293 a0001c0001t0001g0333 a0001c0001t0002g0026 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0261 a0001c0001t0002g0272 a0001c0001t0002g0274 a0001c0001t0002g0276 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0287 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0294 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0002g0320 a0001c0001t0002g0321 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0002g0326 a0001c0001t0002g0327 a0001c0001t0002g0328 a0001c0001t0002g0330 a0001c0001t0002g0331 a0001c0001t0002g0334 a0001c0001t0002g0335 a0001c0001t0002g0336 a0001c0001t0002g0337 a0001c0001t0002g0338 a0001c0001t0002g0339 a0001c0001t0002g0340 a0001c0001t0003g0246 a0001c0001t0009g0179 a0001c0001t0009g0332 a0001c0001t0010g0277 a0001c0001t0011g0275 a0001c0002t0001g0001 a0001c0002t0001g0014 a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0103 a0001c0002t0001g0104 a0001c0002t0001g0106 a0001c0002t0001g0107 a0001c0002t0001g0108 a0001c0002t0001g0109 a0001c0002t0001g0110 a0001c0002t0001g0112 a0001c0002t0001g0113 a0001c0002t0001g0114 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0001g0149 a0001c0002t0001g0156 a0001c0002t0001g0157 a0001c0002t0001g0158 a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0002t0001g0163 a0001c0002t0001g0164 a0001c0002t0001g0166 a0001c0002t0001g0167 a0001c0002t0001g0168 a0001c0002t0001g0169 a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0002t0001g0174 a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0002t0001g0177 a0001c0002t0001g0241 a0001c0002t0002g0105 a0001c0002t0003g0165 a0001c0002t0006g0013 a0001c0002t0006g0150 a0001c0002t0006g0152 a0001c0002t0006g0153 a0001c0002t0006g0155 a0001c0006t0001g0003 a0001c0006t0001g0027 a0001c0006t0001g0037 a0001c0006t0001g0038 a0001c0006t0001g0058 a0001c0006t0001g0059 a0001c0006t0001g0060 a0001c0006t0001g0062 a0001c0006t0001g0063 a0001c0006t0001g0064 a0001c0006t0001g0065 a0001c0006t0001g0067 a0001c0006t0001g0068 a0001c0006t0001g0069 a0001c0006t0001g0070 a0001c0006t0001g0077 a0001c0006t0001g0078 a0001c0006t0001g0083 a0001c0006t0001g0084 a0001c0006t0001g0085 a0001c0006t0001g0091 a0001c0006t0001g0092 a0001c0006t0001g0093 a0001c0006t0001g0094 a0001c0007t0002g0011 a0001c0007t0002g0139 a0001c0007t0002g0140 a0001c0007t0002g0228 a0001c0007t0002g0229 a0001c0007t0003g0342 a0001c0007t0004g0022 a0001c0007t0004g0117 a0001c0007t0004g0201 a0001c0007t0004g0234 a0001c0007t0004g0249 a0001c0007t0004g0256 a0001c0007t0004g0257 a0001c0007t0004g0258 a0001c0007t0008g0243 a0001c0007t0008g0244 a0001c0007t0012g0111 a0001c0007t0013g0238 a0001c0010t0001g0021 a0001c0010t0001g0098 a0001c0010t0001g0189 a0001c0010t0001g0222 a0001c0010t0001g0223 a0001c0015t0004g0259 a0001c0015t0004g0260 a0001c0015t0010g0178 a0001c0015t0010g0245 a0001c0020t0001g0023 a0001c0024t0001g0170 a0001c0025t0001g0173 a0001c0032t0001g0076 a0002c0004t0001g0034 a0002c0004t0001g0041 a0002c0004t0001g0043 a0002c0004t0001g0044 a0002c0004t0001g0049 a0002c0004t0001g0050 a0002c0004t0001g0054 a0002c0004t0001g0072 a0002c0004t0001g0082 a0002c0004t0001g0096 a0002c0004t0001g0248 a0002c0004t0003g0005 a0002c0004t0003g0006 a0002c0004t0003g0033 a0002c0004t0003g0035 a0002c0004t0003g0036 a0002c0004t0003g0040 a0002c0004t0003g0042 a0002c0004t0003g0045 a0002c0004t0003g0048 a0002c0004t0003g0051 a0002c0004t0003g0052 a0002c0004t0003g0055 a0002c0004t0003g0056 a0002c0004t0003g0057 a0002c0004t0003g0061 a0002c0004t0003g0066 a0002c0004t0003g0071 a0002c0004t0003g0073 a0002c0004t0003g0074 a0002c0004t0003g0075 a0002c0004t0003g0079 a0002c0004t0003g0080 a0002c0004t0003g0081 a0002c0004t0003g0086 a0002c0004t0003g0087 a0002c0004t0003g0088 a0002c0004t0003g0089 a0002c0004t0003g0090 a0002c0004t0003g0095 a0002c0004t0003g0295 a0002c0004t0008g0286 a0002c0004t0014g0284 a0002c0004t0015g0039 a0002c0005t0001g0007 a0002c0005t0001g0008 a0002c0005t0001g0015 a0002c0005t0001g0115 a0002c0005t0001g0116 a0002c0005t0001g0120 a0002c0005t0001g0121 a0002c0005t0001g0123 a0002c0005t0001g0124 a0002c0005t0001g0125 a0002c0005t0001g0126 a0002c0005t0001g0127 a0002c0005t0001g0128 a0002c0005t0001g0129 a0002c0005t0001g0132 a0002c0005t0001g0133 a0002c0005t0001g0134 a0002c0005t0001g0135 a0002c0005t0001g0151 a0002c0005t0001g0154 a0002c0005t0001g0180 a0002c0005t0001g0181 a0002c0005t0001g0188 a0002c0005t0001g0190 a0002c0005t0001g0191 a0002c0005t0001g0192 a0002c0005t0001g0193 a0002c0005t0001g0194 a0002c0005t0001g0195 a0002c0005t0001g0240 a0002c0005t0003g0122 a0002c0005t0003g0144 a0002c0005t0003g0230 a0002c0005t0003g0239 a0002c0022t0001g0130 a0003c0003t0001g0009 a0003c0003t0001g0010 a0003c0003t0001g0016 a0003c0003t0001g0017 a0003c0003t0001g0018 a0003c0003t0001g0019 a0003c0003t0001g0020 a0003c0003t0001g0025 a0003c0003t0001g0118 a0003c0003t0001g0119 a0003c0003t0001g0137 a0003c0003t0001g0138 a0003c0003t0001g0183 a0003c0003t0001g0184 a0003c0003t0001g0185 a0003c0003t0001g0202 a0003c0003t0001g0203 a0003c0003t0001g0204 a0003c0003t0001g0210 a0003c0003t0001g0211 a0003c0003t0001g0213 a0003c0003t0001g0214 a0003c0003t0001g0216 a0003c0003t0001g0217 a0003c0003t0001g0218 a0003c0003t0001g0219 a0003c0003t0001g0224 a0003c0003t0001g0225 a0003c0003t0001g0226 a0003c0003t0001g0227 a0003c0003t0001g0236 a0003c0003t0001g0242 a0003c0003t0001g0267 a0003c0003t0001g0268 a0003c0003t0001g0269 a0003c0003t0001g0270 a0003c0003t0001g0289 a0003c0003t0002g0186 a0003c0003t0002g0220 a0003c0003t0002g0221 a0003c0003t0003g0208 a0003c0003t0003g0209 a0003c0003t0003g0212 a0003c0016t0002g0206 a0003c0016t0002g0271 a0003c0017t0001g0031 a0003c0017t0001g0032 a0003c0018t0001g0205 a0003c0018t0001g0215 a0004c0012t0001g0197 a0004c0012t0001g0232 a0004c0012t0001g0233 a0004c0012t0001g0253 a0004c0012t0001g0255 a0004c0014t0001g0250 a0004c0014t0001g0251 a0004c0014t0001g0252 a0004c0014t0001g0254 a0004c0027t0008g0235 a0005c0008t0001g0002 a0005c0008t0001g0231 a0005c0008t0001g0263 a0005c0008t0001g0264 a0005c0008t0001g0265 a0005c0008t0001g0266 a0005c0008t0003g0207 a0006c0009t0001g0146 a0006c0009t0005g0012 a0006c0009t0005g0145 a0006c0009t0005g0147 a0006c0009t0005g0237 a0006c0009t0005g0273 a0007c0011t0007g0004 a0007c0011t0007g0028 a0007c0011t0007g0029 a0007c0011t0007g0030 a0008c0013t0001g0196 a0008c0013t0001g0198 a0008c0013t0001g0199 a0008c0013t0001g0200 a0009c0019t0002g0304 a0009c0019t0002g0329 a0010c0029t0005g0136 a0011c0021t0002g0182 a0012c0026t0003g0187 a0013c0035t0011g0097 a0014c0033t0001g0053 a0015c0031t0003g0247 a0016c0023t0001g0131 a0017c0028t0001g0288 a0018c0030t0005g0148	370	374	0.9893	14	c.-19 others(27): Show c.-19-30_-19-29insGCTATAAGTGCACA	DZANK1	ENSG00000089091.17	transcript	ENST00000699568.1	protein_coding	1/20			chr20	TogoVar
DZIP1_chr13_95573202_95649706	95575590	C C	CGTGTGTG others(7): Show CGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02572.hp2 HG02896.hp2 others(6): Show HG02486.hp1 HG02572.hp2 HG02896.hp2 HG02897.hp1 HG03098.hp2 HG03139.hp1 HG03453.hp2 HG03486.hp2 NA19030.hp1	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0005 a0004c0006 a0004c0012 others(1): Show a0001c0005 a0004c0006 a0004c0012 a0005c0007	a0001c0005t0013 a0004c0006t0021 a0004c0006t0034 others(3): Show a0001c0005t0013 a0004c0006t0021 a0004c0006t0034 a0004c0012t0035 a0005c0007t0021 a0005c0007t0033	a0001c0005t0013g0013 a0001c0005t0013g0014 a0001c0005t0013g0015 others(6): Show a0001c0005t0013g0013 a0001c0005t0013g0014 a0001c0005t0013g0015 a0001c0005t0013g0016 a0004c0006t0021g0321 a0004c0006t0034g0320 a0004c0012t0035g0152 a0005c0007t0021g0140 a0005c0007t0033g0142	9	382	0.0236	14	c.66 others(25): Show c.6643_*6644insACACACACACACAC	DZIP1	ENSG00000134874.18	transcript	ENST00000376829.7	protein_coding		2611		chr13	TogoVar

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