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
DPYSL5_chr2_26843132_26955351	26884520	T T	TCTCACAC others(13): Show TCTCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0040 a0001c0007t0040	a0001c0007t0040g0169 a0001c0007t0040g0169	1	232	0.0043	20	c.-4- others(37): Show c.-4-13975_-4-13974insTCACACACACACACACACAC	DPYSL5	ENSG00000157851.17	transcript	ENST00000288699.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
DPYSL5_chr2_26843132_26955351	26888209	T T	TTTTTTTT others(13): Show TTTTTTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03209.hp2 NA18906.hp2 HG02451.hp2 HG03209.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0009 a0001c0001t0003 a0001c0001t0009	a0001c0001t0003g0003 a0001c0001t0009g0001 a0001c0001t0009g0002 a0001c0001t0003g0003 a0001c0001t0009g0001 a0001c0001t0009g0002	3	232	0.0129	20	c.-4- others(37): Show c.-4-10284_-4-10283insTTTTCTTTCTTTCTTTCTTT	DPYSL5	ENSG00000157851.17	transcript	ENST00000288699.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
DPYSL5_chr2_26843132_26955351	26888255	T T	TTCTTTCT others(13): Show TTCTTTCTTTCTTTCTTTCTG	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01069.hp1 HG01361.hp1 others(8): Show HG00673.hp2 HG01069.hp1 HG01361.hp1 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG02647.hp1 NA18522.hp1 NA19043.hp2 NA20300.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0023 a0001c0001t0032 a0001c0002t0002 others(4): Show a0001c0001t0023 a0001c0001t0032 a0001c0002t0002 a0001c0002t0020 a0001c0002t0027 a0001c0002t0028 a0001c0002t0029	a0001c0001t0023g0022 a0001c0001t0032g0077 a0001c0002t0002g0089 others(8): Show a0001c0001t0023g0022 a0001c0001t0032g0077 a0001c0002t0002g0089 a0001c0002t0002g0090 a0001c0002t0002g0091 a0001c0002t0002g0098 a0001c0002t0020g0057 a0001c0002t0020g0058 a0001c0002t0027g0083 a0001c0002t0028g0046 a0001c0002t0029g0137	11	232	0.0474	20	c.-4- others(37): Show c.-4-10230_-4-10229insTTCTTTCTGTCTTTCTTTCT	DPYSL5	ENSG00000157851.17	transcript	ENST00000288699.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
DPYSL5_chr2_26843132_26955351	26928704	T T	TATATATA others(13): Show TATATATATATACACACACAC	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0039 a0001c0002t0039	a0001c0002t0039g0019 a0001c0002t0039g0019	1	232	0.0043	20	c.669 others(35): Show c.669+382_669+383insTATATATATACACACACACA	DPYSL5	ENSG00000157851.17	transcript	ENST00000288699.11	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
DPYSL5_chr2_26843132_26955351	26931169	A A	ATGTGTGT others(13): Show ATGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0016 a0001c0001t0005g0016	1	232	0.0043	20	c.670 others(35): Show c.670-455_670-436dupGTGTGTGTGTGTGTGTGTGT	DPYSL5	ENSG00000157851.17	transcript	ENST00000288699.11	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
DPYSL5_chr2_26843132_26955351	26932048	G G	GGAAAGAA others(13): Show GGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG01934.hp2 NA18522.hp2 HG01934.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0009 a0001c0001t0001g0010	2	232	0.0086	20	c.714 others(35): Show c.714+381_714+400dupGAAAGAAAGAAAGAAAGAAA	DPYSL5	ENSG00000157851.17	transcript	ENST00000288699.11	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
DPYSL5_chr2_26843132_26955351	26932137	G G	GAAAGAGA others(13): Show GAAAGAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	232	0.0043	20	c.714 others(35): Show c.714+454_714+455insAAGAGAAAGAAAGAAAGAAA	DPYSL5	ENSG00000157851.17	transcript	ENST00000288699.11	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
DPYSL5_chr2_26843132_26955351	26932185	A A	AAGAAAGA others(13): Show AAGAAAGAAAGAAAGAAAGAC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00558.hp1 NA18994.hp2 HG00280.hp1 HG00558.hp1 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0001 a0001c0001t0005 a0001c0001t0007	a0001c0001t0001g0184 a0001c0001t0005g0203 a0001c0001t0007g0172 a0001c0001t0001g0184 a0001c0001t0005g0203 a0001c0001t0007g0172	3	232	0.0129	20	c.714 others(35): Show c.714+520_714+521insCAGAAAGAAAGAAAGAAAGA	DPYSL5	ENSG00000157851.17	transcript	ENST00000288699.11	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
DPYSL5_chr2_26843132_26955351	26948093	A A	ACACACAC others(13): Show ACACACACACACACACACACG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00639.hp1 HG02257.hp2 HG02572.hp2 others(3): Show HG00639.hp1 HG02257.hp2 HG02572.hp2 HG02615.hp2 HG02630.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0033 a0001c0001t0034 a0001c0001t0012 a0001c0001t0033 a0001c0001t0034	a0001c0001t0012g0030 a0001c0001t0012g0048 a0001c0001t0012g0051 others(3): Show a0001c0001t0012g0030 a0001c0001t0012g0048 a0001c0001t0012g0051 a0001c0001t0012g0055 a0001c0001t0033g0052 a0001c0001t0034g0054	6	232	0.0259	20	c.11 others(31): Show c.1115_*1116insACGCACACACACACACACAC	DPYSL5	ENSG00000157851.17	transcript	ENST00000288699.11	protein_coding	13/13	1116	INFO_REALIGN_3_PRIME	chr2	TogoVar
DPYS_chr8_104374431_104472055	104381852	T T	TCACACAC others(13): Show TCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01257.hp2 HG01258.hp2 others(10): Show HG01175.hp1 HG01257.hp2 HG01258.hp2 HG01952.hp1 HG01993.hp2 HG03225.hp2 NA18942.hp2 NA18944.hp2 NA18955.hp2 NA18979.hp1 NA19055.hp1 NA19064.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0088 a0001c0001t0002g0017 a0001c0001t0002g0296 others(9): Show a0001c0001t0001g0088 a0001c0001t0002g0017 a0001c0001t0002g0296 a0001c0001t0002g0306 a0001c0001t0002g0309 a0001c0001t0002g0312 a0001c0001t0005g0301 a0001c0001t0005g0302 a0001c0002t0001g0166 a0001c0002t0001g0227 a0001c0002t0001g0238 a0001c0002t0002g0356	13	380	0.0342	20	c.144 others(37): Show c.1444-558_1444-539dupTGTGTGTGTGTGTGTGTGTG	DPYS	ENSG00000147647.13	transcript	ENST00000351513.7	protein_coding	8/9			chr8	TogoVar
DPYS_chr8_104374431_104472055	104461291	C C	CAATAAAA others(13): Show CAATAAAATAAAATAAAATAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02040.hp1 HG02055.hp2 others(11): Show HG01243.hp1 HG02040.hp1 HG02055.hp2 HG02258.hp2 HG02280.hp2 HG02293.hp1 HG02451.hp2 HG02896.hp2 HG02976.hp1 HG03209.hp1 HG03540.hp1 HG03942.hp1 NA18982.hp2 NA19240.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0006 others(1): Show a0001c0001 a0001c0002 a0002c0006 a0003c0007	a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 a0001c0002t0004 a0002c0006t0001 a0002c0006t0006 a0003c0007t0001	a0001c0001t0001g0064 a0001c0001t0001g0140 a0001c0001t0004g0139 others(11): Show a0001c0001t0001g0064 a0001c0001t0001g0140 a0001c0001t0004g0139 a0001c0002t0001g0164 a0001c0002t0001g0179 a0001c0002t0004g0249 a0002c0006t0001g0046 a0002c0006t0001g0048 a0002c0006t0001g0049 a0002c0006t0001g0050 a0002c0006t0006g0047 a0003c0007t0001g0252 a0003c0007t0001g0254 a0003c0007t0001g0255	14	380	0.0368	20	c.264 others(37): Show c.264+5346_264+5365dupTTATTTTATTTTATTTTATT	DPYS	ENSG00000147647.13	transcript	ENST00000351513.7	protein_coding	1/9			chr8	TogoVar
DRAM1_chr12_101872580_101928612	101895186	G G	GTTTTTTT others(13): Show GTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01993.hp1 NA18962.hp2 others(2): Show HG01891.hp1 HG01993.hp1 NA18962.hp2 NA18971.hp2 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0236 a0001c0001t0001g0286 others(2): Show a0001c0001t0001g0200 a0001c0001t0001g0236 a0001c0001t0001g0286 a0001c0001t0001g0288 a0001c0001t0001g0291	5	396	0.0126	20	c.132 others(37): Show c.132-2666_132-2647dupTTTTTTTTTTTTTTTTTTTT	DRAM1	ENSG00000136048.14	transcript	ENST00000258534.13	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr12	TogoVar
DRAM1_chr12_101872580_101928612	101904426	G G	GTTTTTTT others(13): Show GTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	396	0.0025	20	c.342 others(37): Show c.342+2993_342+2994insTTTTTTTTTTTTTTTTTTTT	DRAM1	ENSG00000136048.14	transcript	ENST00000258534.13	protein_coding	3/6			chr12	TogoVar
DRAXIN_chr1_11686710_11730857	11699926	C C	CAATAAAT others(13): Show CAATAAATAAATAAATAAATA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01361.hp1 HG01361.hp2 others(1): Show HG01257.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0002 a0003c0004t0001 a0003c0004t0002	a0003c0004t0001g0255 a0003c0004t0002g0253 a0003c0004t0002g0254 others(1): Show a0003c0004t0001g0255 a0003c0004t0002g0253 a0003c0004t0002g0254 a0003c0004t0002g0256	4	398	0.0101	20	c.-10 others(37): Show c.-10-6316_-10-6297dupTAAATAAATAAATAAATAAA	DRAXIN	ENSG00000162490.7	transcript	ENST00000294485.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
DRAXIN_chr1_11686710_11730857	11727667	C C	CGTGTGTG others(13): Show CGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00323.hp2 others(20): Show HG00099.hp1 HG00280.hp2 HG00323.hp2 HG00733.hp2 HG01069.hp2 HG01071.hp2 HG01081.hp2 HG01106.hp1 HG01257.hp2 HG01516.hp2 HG02004.hp2 HG02040.hp1 HG02109.hp1 HG02109.hp2 HG02970.hp2 HG03041.hp2 HG03098.hp2 HG03831.hp2 HG03942.hp2 NA18956.hp1 NA19087.hp1 NA19089.hp1 NA20129.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0003c0004	a0001c0001t0003 a0001c0001t0004 a0001c0001t0014 others(11): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0014 a0001c0001t0015 a0001c0001t0039 a0001c0001t0048 a0001c0001t0065 a0001c0001t0098 a0001c0003t0004 a0001c0003t0058 a0001c0003t0093 a0002c0002t0004 a0002c0002t0036 a0003c0004t0002	a0001c0001t0003g0102 a0001c0001t0003g0238 a0001c0001t0004g0008 others(19): Show a0001c0001t0003g0102 a0001c0001t0003g0238 a0001c0001t0004g0008 a0001c0001t0004g0030 a0001c0001t0004g0203 a0001c0001t0004g0213 a0001c0001t0004g0235 a0001c0001t0004g0243 a0001c0001t0004g0315 a0001c0001t0004g0322 a0001c0001t0014g0101 a0001c0001t0015g0044 a0001c0001t0039g0274 a0001c0001t0048g0080 a0001c0001t0065g0207 a0001c0001t0098g0265 a0001c0003t0004g0194 a0001c0003t0058g0053 a0001c0003t0093g0059 a0002c0002t0004g0123 a0002c0002t0036g0119 a0003c0004t0002g0254	23	398	0.0578	20	c.79 others(31): Show c.7971_*7972insGTGTGTGTGTGTGTGTGTGT	DRAXIN	ENSG00000162490.7	transcript	ENST00000294485.6	protein_coding		1811		chr1	TogoVar
DRC1_chr2_26396920_26461711	26410811	G G	GAAACAAA others(13): Show GAAACAAAACAAAACACAACA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0005 a0008c0011t0005	a0008c0011t0005g0310 a0008c0011t0005g0310	1	384	0.0026	20	c.156 others(37): Show c.156-3517_156-3498dupCAACAAAACAAAACAAAACA	DRC1	ENSG00000157856.12	transcript	ENST00000288710.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
DRC3_chr17_17967862_18021889	18019147	C C	CCACACAC others(13): Show CCACACACACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG00642.hp1 HG03453.hp1 HG00609.hp1 HG00642.hp1 HG03453.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0004 a0002c0002t0005 a0001c0001t0003 a0002c0002t0004 a0002c0002t0005	a0001c0001t0003g0267 a0002c0002t0004g0040 a0002c0002t0005g0030 a0001c0001t0003g0267 a0002c0002t0004g0040 a0002c0002t0005g0030	3	324	0.0093	20	c.24 others(31): Show c.2476_*2477insCACACACACACACACACACA	DRC3	ENSG00000171962.19	transcript	ENST00000399187.6	protein_coding		2259		chr17	TogoVar
DRC7_chr16_57689806_57736805	57704376	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0004 a0004	a0004c0043 a0004c0043	a0004c0043t0001 a0004c0043t0001	a0004c0043t0001g0298 a0004c0043t0001g0298	1	388	0.0026	20	c.700 others(35): Show c.700-489_700-470dupACACACACACACACACACAC	DRC7	ENSG00000159625.15	transcript	ENST00000360716.8	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr16	TogoVar
DRC7_chr16_57689806_57736805	57729538	G G	GTGAGTGG others(13): Show GTGAGTGGGTGGGTGGATGGA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03579.hp2 NA21309.hp1 HG02922.hp1 HG03579.hp2 NA21309.hp1	a0004 a0006 a0004 a0006	a0004c0005 a0006c0008 a0004c0005 a0006c0008	a0004c0005t0003 a0006c0008t0003 a0004c0005t0003 a0006c0008t0003	a0004c0005t0003g0078 a0006c0008t0003g0105 a0006c0008t0003g0274 a0004c0005t0003g0078 a0006c0008t0003g0105 a0006c0008t0003g0274	3	388	0.0077	20	c.239 others(38): Show c.2391+997_2391+1016dupAGTGGGTGGGTGGATGGATG	DRC7	ENSG00000159625.15	transcript	ENST00000360716.8	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr16	TogoVar
DRC7_chr16_57689806_57736805	57729908	A A	AGGTGGGT others(13): Show AGGTGGGTGGATGGATGAGTG	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA19054.hp1 NA18967.hp2 NA19054.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0146 a0003c0003t0001g0191 a0003c0003t0001g0146 a0003c0003t0001g0191	2	388	0.0052	20	c.239 others(38): Show c.2392-1009_2392-990dupATGAGTGGGTGGGTGGATGG	DRC7	ENSG00000159625.15	transcript	ENST00000360716.8	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr16	TogoVar
DRD5_chr4_9776634_9789009	9778053	T T	TTTCCTTC others(13): Show TTTCCTTCCTTCCTTCCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0000 a0001c0002t0003g0000	1	454	0.0022	20	c.-39 others(31): Show c.-3977_-3976insTTCCTTCCTTCCTTCCTTCC	DRD5	ENSG00000169676.6	transcript	ENST00000304374.4	protein_coding		3580		chr4	TogoVar
DRG2_chr17_18082948_18112969	18090368	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0239 a0001c0001t0002g0239	1	418	0.0024	20	c.64+ others(35): Show c.64+2301_64+2320dupATATATATATATATATATAT	DRG2	ENSG00000108591.10	transcript	ENST00000225729.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
DRG2_chr17_18082948_18112969	18090406	A A	ATATATAT others(13): Show ATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0242 a0001c0001t0002g0242	1	418	0.0024	20	c.64+ others(35): Show c.64+2320_64+2321insATATATATTTTTTTTTTTTT	DRG2	ENSG00000108591.10	transcript	ENST00000225729.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
DRICH1_chr22_23603452_23637321	23625954	T T	TTAGAAGG others(13): Show TTAGAAGGCAAAGAAAGGGGG	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG03834.hp2 HG04115.hp1 others(1): Show HG02735.hp2 HG03834.hp2 HG04115.hp1 NA18990.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0004 a0003c0003t0002 a0003c0003t0004	a0003c0003t0002g0124 a0003c0003t0002g0125 a0003c0003t0004g0126 others(1): Show a0003c0003t0002g0124 a0003c0003t0002g0125 a0003c0003t0004g0126 a0003c0003t0004g0127	4	446	0.0090	20	c.276 others(32): Show c.276+7_276+26dupCCCCCTTTCTTTGCCTTCTA	DRICH1	ENSG00000189269.13	transcript	ENST00000317749.9	protein_coding	2/11			chr22	TogoVar
DROSHA_chr5_31395494_31537093	31397452	T T	TTATATAT others(13): Show TTATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG01070.hp2 HG02602.hp2 others(6): Show HG00738.hp1 HG01070.hp2 HG02602.hp2 HG03927.hp1 NA18970.hp2 NA18978.hp2 NA18995.hp2 NA19077.hp2 NA19088.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0033 a0002c0005	a0001c0001t0002 a0001c0002t0001 a0001c0003t0003 others(2): Show a0001c0001t0002 a0001c0002t0001 a0001c0003t0003 a0001c0033t0001 a0002c0005t0001	a0001c0001t0002g0050 a0001c0002t0001g0154 a0001c0002t0001g0175 others(6): Show a0001c0001t0002g0050 a0001c0002t0001g0154 a0001c0002t0001g0175 a0001c0002t0001g0201 a0001c0002t0001g0236 a0001c0003t0003g0061 a0001c0033t0001g0226 a0002c0005t0001g0279 a0002c0005t0001g0280	9	322	0.0280	20	c.39 others(31): Show c.3979_*3980insTATATATATATATATATATA	DROSHA	ENSG00000113360.17	transcript	ENST00000344624.8	protein_coding		3041		chr5	TogoVar
DROSHA_chr5_31395494_31537093	31421917	C C	CGTGTGTG others(13): Show CGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01952.hp2 HG01975.hp1 others(12): Show HG01109.hp2 HG01952.hp2 HG01975.hp1 HG02148.hp2 HG02273.hp1 HG02280.hp2 HG02451.hp1 HG02647.hp2 HG02965.hp2 HG03041.hp1 HG03139.hp1 HG03486.hp2 HG03710.hp1 NA18612.hp2 NA20752.hp2	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0023 a0003c0006 a0007c0035	a0001c0001t0003 a0001c0002t0001 a0001c0002t0003 others(5): Show a0001c0001t0003 a0001c0002t0001 a0001c0002t0003 a0001c0002t0006 a0001c0003t0002 a0001c0023t0001 a0003c0006t0003 a0007c0035t0003	a0001c0001t0003g0284 a0001c0001t0003g0286 a0001c0001t0003g0287 others(12): Show a0001c0001t0003g0284 a0001c0001t0003g0286 a0001c0001t0003g0287 a0001c0001t0003g0288 a0001c0002t0001g0160 a0001c0002t0001g0190 a0001c0002t0001g0198 a0001c0002t0001g0199 a0001c0002t0001g0202 a0001c0002t0003g0123 a0001c0002t0006g0314 a0001c0003t0002g0225 a0001c0023t0001g0197 a0003c0006t0003g0289 a0007c0035t0003g0126	15	322	0.0466	20	c.342 others(37): Show c.3420-541_3420-540insACACACACACACACACACAC	DROSHA	ENSG00000113360.17	transcript	ENST00000344624.8	protein_coding	29/35			chr5	TogoVar
DROSHA_chr5_31395494_31537093	31480178	G G	GTATATAT others(13): Show GTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01070.hp2 HG01928.hp1 others(11): Show HG00738.hp2 HG01070.hp2 HG01928.hp1 HG03471.hp1 HG03704.hp2 HG04199.hp2 HG04204.hp2 NA18950.hp2 NA18969.hp2 NA18975.hp2 NA19065.hp1 NA19085.hp2 NA19091.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0012 a0002c0004 others(1): Show a0001c0001 a0001c0012 a0002c0004 a0002c0005	a0001c0001t0002 a0001c0001t0005 a0001c0012t0001 others(4): Show a0001c0001t0002 a0001c0001t0005 a0001c0012t0001 a0002c0004t0002 a0002c0004t0004 a0002c0005t0001 a0002c0005t0007	a0001c0001t0002g0050 a0001c0001t0002g0234 a0001c0001t0005g0302 others(11): Show a0001c0001t0002g0050 a0001c0001t0002g0234 a0001c0001t0005g0302 a0001c0001t0005g0304 a0001c0012t0001g0095 a0002c0004t0002g0108 a0002c0004t0004g0010 a0002c0005t0001g0263 a0002c0005t0001g0265 a0002c0005t0001g0266 a0002c0005t0001g0267 a0002c0005t0007g0011 a0002c0005t0007g0023 a0002c0005t0007g0024	14	322	0.0435	20	c.207 others(39): Show c.2071+3356_2071+3375dupTATATATATATATATATATA	DROSHA	ENSG00000113360.17	transcript	ENST00000344624.8	protein_coding	16/35			chr5	TogoVar
DSC3_chr18_30984365_31047742	30996004	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0033 a0004c0008t0033	a0004c0008t0033g0226 a0004c0008t0033g0226	1	392	0.0026	20	c.249 others(37): Show c.2493+786_2493+787insCTTTTTTTTTTTTTTTTTTT	DSC3	ENSG00000134762.17	transcript	ENST00000360428.9	protein_coding	15/15			chr18	TogoVar
DSC3_chr18_30984365_31047742	31001089	G G	GTATATAT others(13): Show GTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0338 a0001c0001t0008g0338	1	392	0.0026	20	c.223 others(37): Show c.2235+509_2235+528dupTATATATATATATATATATA	DSC3	ENSG00000134762.17	transcript	ENST00000360428.9	protein_coding	14/15			chr18	TogoVar
DSC3_chr18_30984365_31047742	31001089	G G	GTGTATAT others(13): Show GTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00642.hp2 HG01109.hp2 others(17): Show HG00597.hp2 HG00642.hp2 HG01109.hp2 HG02135.hp1 HG02602.hp1 HG02615.hp2 HG02895.hp1 HG02897.hp1 HG03139.hp1 HG04115.hp1 NA18941.hp2 NA18960.hp1 NA18964.hp1 NA18982.hp1 NA18982.hp2 NA18991.hp2 NA18994.hp1 NA19060.hp1 NA19076.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0006 a0001c0001 a0002c0002 a0002c0006	a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 others(14): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0013 a0001c0001t0017 a0001c0001t0018 a0001c0001t0031 a0001c0001t0043 a0001c0001t0045 a0001c0001t0046 a0001c0001t0054 a0001c0001t0107 a0001c0001t0110 a0001c0001t0114 a0002c0002t0020 a0002c0002t0030 a0002c0006t0014	a0001c0001t0002g0157 a0001c0001t0002g0350 a0001c0001t0004g0107 others(17): Show a0001c0001t0002g0157 a0001c0001t0002g0350 a0001c0001t0004g0107 a0001c0001t0007g0082 a0001c0001t0013g0153 a0001c0001t0017g0120 a0001c0001t0018g0100 a0001c0001t0031g0367 a0001c0001t0031g0371 a0001c0001t0043g0340 a0001c0001t0045g0298 a0001c0001t0046g0299 a0001c0001t0054g0129 a0001c0001t0107g0212 a0001c0001t0110g0102 a0001c0001t0114g0124 a0002c0002t0020g0243 a0002c0002t0030g0255 a0002c0006t0014g0330 a0002c0006t0014g0331	20	392	0.0510	20	c.223 others(37): Show c.2235+528_2235+529insTATATATATATATATATACA	DSC3	ENSG00000134762.17	transcript	ENST00000360428.9	protein_coding	14/15			chr18	TogoVar
DSC3_chr18_30984365_31047742	31027464	T T	TCTCCTTC others(13): Show TCTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0340 a0001c0001t0043g0340	1	392	0.0026	20	c.475 others(37): Show c.475-1550_475-1549insGGAAGGAAGGAAGGAAGGAG	DSC3	ENSG00000134762.17	transcript	ENST00000360428.9	protein_coding	4/15			chr18	TogoVar
DSC3_chr18_30984365_31047742	31027464	T T	TTTCCTTC others(13): Show TTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00597.hp2 HG00609.hp1 others(34): Show HG00323.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00642.hp2 HG00735.hp1 HG01070.hp1 HG02129.hp1 HG02145.hp1 HG02165.hp1 HG02257.hp1 HG02602.hp2 HG02738.hp1 HG03239.hp2 HG03669.hp2 HG03831.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04228.hp1 NA18940.hp1 NA18946.hp2 NA18951.hp1 NA18959.hp1 NA18963.hp1 NA18975.hp1 NA18982.hp1 NA18985.hp1 NA18994.hp1 NA18995.hp2 NA18998.hp2 NA19001.hp1 NA19002.hp1 NA19012.hp1 NA19076.hp2 NA19083.hp2 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0001c0014 others(1): Show a0001c0001 a0001c0007 a0001c0014 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0017 a0001c0001t0018 a0001c0001t0026 a0001c0001t0027 a0001c0001t0029 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0054 a0001c0001t0080 a0001c0001t0090 a0001c0001t0102 a0001c0001t0110 a0001c0007t0088 a0001c0014t0112 a0002c0002t0002	a0001c0001t0001g0088 a0001c0001t0001g0112 a0001c0001t0001g0115 others(33): Show a0001c0001t0001g0088 a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0002g0098 a0001c0001t0002g0154 a0001c0001t0002g0350 a0001c0001t0002g0351 a0001c0001t0002g0360 a0001c0001t0004g0107 a0001c0001t0008g0362 a0001c0001t0011g0084 a0001c0001t0012g0361 a0001c0001t0013g0006 a0001c0001t0013g0101 a0001c0001t0013g0153 a0001c0001t0017g0120 a0001c0001t0018g0087 a0001c0001t0018g0136 a0001c0001t0018g0148 a0001c0001t0026g0135 a0001c0001t0026g0145 a0001c0001t0027g0096 a0001c0001t0029g0128 a0001c0001t0036g0092 a0001c0001t0036g0097 a0001c0001t0037g0021 a0001c0001t0037g0089 a0001c0001t0038g0144 a0001c0001t0054g0129 a0001c0001t0080g0118 a0001c0001t0090g0117 a0001c0001t0102g0146 a0001c0001t0110g0102 a0001c0007t0088g0143 a0001c0014t0112g0369 a0002c0002t0002g0077	37	392	0.0944	20	c.475 others(37): Show c.475-1569_475-1550dupGGAAGGAAGGAAGGAAGGAA	DSC3	ENSG00000134762.17	transcript	ENST00000360428.9	protein_coding	4/15			chr18	TogoVar
DSCAML1_chr11_117422772_117802216	117477198	G G	GACACACA others(13): Show GACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00642.hp2 HG01099.hp1 others(3): Show HG00558.hp1 HG00642.hp2 HG01099.hp1 HG01891.hp1 HG03453.hp1 NA19030.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0013 a0001c0017 a0001c0050 others(2): Show a0001c0013 a0001c0017 a0001c0050 a0002c0032 a0004c0068	a0001c0013t0001 a0001c0013t0003 a0001c0017t0003 others(3): Show a0001c0013t0001 a0001c0013t0003 a0001c0017t0003 a0001c0050t0001 a0002c0032t0001 a0004c0068t0001	a0001c0013t0001g0065 a0001c0013t0003g0181 a0001c0017t0003g0054 others(3): Show a0001c0013t0001g0065 a0001c0013t0003g0181 a0001c0017t0003g0054 a0001c0050t0001g0022 a0002c0032t0001g0033 a0004c0068t0001g0146	6	194	0.0309	20	c.278 others(39): Show c.2785+3225_2785+3244dupGTGTGTGTGTGTGTGTGTGT	DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	14/32			chr11	TogoVar
DSCAML1_chr11_117422772_117802216	117539606	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0056 a0002c0002t0001g0056	1	194	0.0052	20	c.512 others(37): Show c.512-7104_512-7085dupTTTTTTTTTTTTTTTTTTTT	DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	3/32			chr11	TogoVar
DSCAML1_chr11_117422772_117802216	117559130	A A	AACAGACA others(13): Show AACAGACAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00558.hp2 HG00642.hp2 others(11): Show HG00438.hp2 HG00558.hp2 HG00642.hp2 HG00673.hp2 HG01081.hp1 HG02055.hp1 HG02071.hp1 HG02886.hp1 HG02896.hp1 HG03041.hp1 HG03195.hp1 HG04115.hp1 NA18960.hp1 NA19030.hp2	a0001 a0001	a0001c0005 a0001c0008 a0001c0015 others(7): Show a0001c0005 a0001c0008 a0001c0015 a0001c0017 a0001c0020 a0001c0025 a0001c0035 a0001c0036 a0001c0050 a0001c0056	a0001c0005t0001 a0001c0008t0001 a0001c0015t0001 others(10): Show a0001c0005t0001 a0001c0008t0001 a0001c0015t0001 a0001c0015t0002 a0001c0015t0005 a0001c0017t0003 a0001c0020t0001 a0001c0020t0003 a0001c0025t0004 a0001c0035t0003 a0001c0036t0003 a0001c0050t0001 a0001c0056t0001	a0001c0005t0001g0096 a0001c0008t0001g0114 a0001c0008t0001g0167 others(11): Show a0001c0005t0001g0096 a0001c0008t0001g0114 a0001c0008t0001g0167 a0001c0015t0001g0031 a0001c0015t0002g0038 a0001c0015t0005g0008 a0001c0017t0003g0054 a0001c0020t0001g0027 a0001c0020t0003g0021 a0001c0025t0004g0053 a0001c0035t0003g0170 a0001c0036t0003g0063 a0001c0050t0001g0022 a0001c0056t0001g0075	14	194	0.0722	20	c.512 others(39): Show c.512-26609_512-26608insCTTTCTTTCTTTCTGTCTGT	DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	3/32			chr11	TogoVar
DSCAML1_chr11_117422772_117802216	117559130	A A	AACAGACA others(13): Show AACAGACAGAAAGAAAGACAG	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02257.hp1 HG02622.hp1 others(2): Show HG01074.hp1 HG02257.hp1 HG02622.hp1 HG03486.hp2 HG03540.hp2	a0001 a0001	a0001c0005 a0001c0039 a0001c0042 others(2): Show a0001c0005 a0001c0039 a0001c0042 a0001c0043 a0001c0051	a0001c0005t0003 a0001c0039t0001 a0001c0042t0003 others(2): Show a0001c0005t0003 a0001c0039t0001 a0001c0042t0003 a0001c0043t0003 a0001c0051t0002	a0001c0005t0003g0046 a0001c0039t0001g0155 a0001c0042t0003g0127 others(2): Show a0001c0005t0003g0046 a0001c0039t0001g0155 a0001c0042t0003g0127 a0001c0043t0003g0184 a0001c0051t0002g0010	5	194	0.0258	20	c.512 others(39): Show c.512-26609_512-26608insCTGTCTTTCTTTCTGTCTGT	DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	3/32			chr11	TogoVar
DSCAML1_chr11_117422772_117802216	117649041	A A	ATATATGT others(13): Show ATATATGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0003 a0001c0017t0003	a0001c0017t0003g0054 a0001c0017t0003g0054	1	194	0.0052	20	c.512 others(41): Show c.512-116520_512-116519insCACACACACACACACATATA	DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	3/32			chr11	TogoVar
DSCAML1_chr11_117422772_117802216	117694078	T T	TATATATA others(13): Show TATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0162 a0002c0002t0001g0162	1	194	0.0052	20	c.511 others(39): Show c.511+82712_511+82713insGTATATATATATATATATAT	DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	3/32			chr11	TogoVar
DSCAML1_chr11_117422772_117802216	117769434	T T	TTATATAA others(13): Show TTATATAATATATATTTTATA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0004 a0001c0028t0004	a0001c0028t0004g0006 a0001c0028t0004g0006	1	194	0.0052	20	c.511 others(37): Show c.511+7337_511+7356dupTATAAAATATATATTATATA	DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	3/32			chr11	TogoVar
DSCAML1_chr11_117422772_117802216	117780290	A A	AAGAAAGA others(13): Show AAGAAAGAAAGAAAGAAAGAC	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG03139.hp1 NA18953.hp2 HG01175.hp2 HG03139.hp1 NA18953.hp2	a0001 a0002 a0001 a0002	a0001c0016 a0002c0002 a0002c0019 a0001c0016 a0002c0002 a0002c0019	a0001c0016t0002 a0002c0002t0003 a0002c0019t0002 a0001c0016t0002 a0002c0002t0003 a0002c0019t0002	a0001c0016t0002g0147 a0002c0002t0003g0194 a0002c0019t0002g0148 a0001c0016t0002g0147 a0002c0002t0003g0194 a0002c0019t0002g0148	3	194	0.0155	20	c.364 others(35): Show c.364+202_364+203insGTCTTTCTTTCTTTCTTTCT	DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	2/32			chr11	TogoVar
DSE_chr6_116365947_116449861	116421442	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG03098.hp1 HG03453.hp2 others(2): Show HG02602.hp1 HG03098.hp1 HG03453.hp2 HG04204.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0008 a0001c0001t0023 a0001c0001t0007 a0001c0001t0008 a0001c0001t0023	a0001c0001t0007g0242 a0001c0001t0008g0148 a0001c0001t0008g0159 others(2): Show a0001c0001t0007g0242 a0001c0001t0008g0148 a0001c0001t0008g0159 a0001c0001t0008g0163 a0001c0001t0023g0281	5	366	0.0137	20	c.417 others(37): Show c.417-5129_417-5110dupATATATATATATATATATAT	DSE	ENSG00000111817.19	transcript	ENST00000644252.3	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr6	TogoVar
DSE_chr6_116365947_116449861	116421463	A A	ATATATAT others(13): Show ATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02965.hp1 HG01243.hp2 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0051 a0001c0001t0021 a0001c0001t0051	a0001c0001t0021g0310 a0001c0001t0051g0307 a0001c0001t0021g0310 a0001c0001t0051g0307	2	366	0.0055	20	c.417 others(37): Show c.417-5110_417-5109insATATATATATATATATATTT	DSE	ENSG00000111817.19	transcript	ENST00000644252.3	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr6	TogoVar
DSE_chr6_116365947_116449861	116421463	A A	ATATATAT others(13): Show ATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01123.hp1 HG03139.hp2 HG01106.hp2 HG01123.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0017 a0001c0001t0014 a0001c0001t0017	a0001c0001t0014g0021 a0001c0001t0017g0265 a0001c0001t0014g0021 a0001c0001t0017g0265	3	366	0.0082	20	c.417 others(37): Show c.417-5110_417-5109insATATATATATATATTTTTTT	DSE	ENSG00000111817.19	transcript	ENST00000644252.3	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr6	TogoVar
DSG3_chr18_31442741_31483702	31446611	G G	GTAAATAA others(13): Show GTAAATAAATAAATAAATAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0030 a0001c0011t0030	a0001c0011t0030g0243 a0001c0011t0030g0243	1	346	0.0029	20	c.-12 others(31): Show c.-1267_-1266insTAAATAAATAAATAAATAAA	DSG3	ENSG00000134757.5	transcript	ENST00000257189.5	protein_coding		1129		chr18	TogoVar
DSP_chr6_7536671_7591714	7554082	A A	AACACACA others(13): Show AACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00735.hp2 HG01261.hp1 others(18): Show HG00140.hp2 HG00735.hp2 HG01261.hp1 HG01496.hp2 HG01884.hp2 HG01928.hp2 HG01993.hp1 HG02027.hp1 HG02080.hp2 HG02886.hp2 HG02895.hp1 HG03834.hp1 NA18612.hp2 NA18946.hp1 NA18981.hp1 NA18981.hp2 NA19001.hp2 NA19058.hp1 NA20129.hp2 NA20300.hp2 NA20905.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0005 a0007 a0020 a0031	a0001c0001 a0001c0004 a0001c0007 others(12): Show a0001c0001 a0001c0004 a0001c0007 a0001c0010 a0001c0011 a0002c0002 a0002c0003 a0002c0018 a0003c0005 a0003c0006 a0003c0009 a0005c0008 a0007c0027 a0020c0060 a0031c0080	a0001c0001t0001 a0001c0004t0001 a0001c0007t0001 others(14): Show a0001c0001t0001 a0001c0004t0001 a0001c0007t0001 a0001c0010t0001 a0001c0010t0004 a0001c0011t0001 a0002c0002t0001 a0002c0003t0001 a0002c0018t0001 a0003c0005t0002 a0003c0006t0002 a0003c0006t0003 a0003c0009t0002 a0005c0008t0001 a0007c0027t0001 a0020c0060t0001 a0031c0080t0003	a0001c0001t0001g0013 a0001c0004t0001g0026 a0001c0004t0001g0320 others(16): Show a0001c0001t0001g0013 a0001c0004t0001g0026 a0001c0004t0001g0320 a0001c0007t0001g0217 a0001c0010t0001g0080 a0001c0010t0004g0078 a0001c0011t0001g0262 a0002c0002t0001g0125 a0002c0003t0001g0004 a0002c0018t0001g0261 a0003c0005t0002g0079 a0003c0006t0002g0362 a0003c0006t0002g0364 a0003c0006t0003g0005 a0003c0009t0002g0308 a0005c0008t0001g0295 a0007c0027t0001g0238 a0020c0060t0001g0363 a0031c0080t0003g0005	21	396	0.0530	20	c.171 others(37): Show c.171-1611_171-1592dupACACACACACACACACACAC	DSP	ENSG00000096696.16	transcript	ENST00000379802.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr6	TogoVar
DSP_chr6_7536671_7591714	7554125	A A	ACACACAC others(13): Show ACACACACACACACACACACC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02922.hp1 HG03041.hp1 others(2): Show HG00408.hp2 HG02922.hp1 HG03041.hp1 HG03139.hp2 NA19007.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0004 a0002c0002 others(1): Show a0001c0001 a0001c0004 a0002c0002 a0004c0012	a0001c0001t0001 a0001c0004t0001 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0004t0001 a0002c0002t0001 a0004c0012t0002	a0001c0001t0001g0237 a0001c0004t0001g0231 a0002c0002t0001g0225 others(1): Show a0001c0001t0001g0237 a0001c0004t0001g0231 a0002c0002t0001g0225 a0004c0012t0002g0003	5	396	0.0126	20	c.171 others(37): Show c.171-1592_171-1591insACACACACACACACACACCC	DSP	ENSG00000096696.16	transcript	ENST00000379802.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr6	TogoVar
DSTN_chr20_17565075_17614919	17583735	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0068 a0001c0001t0009g0068	1	348	0.0029	20	c.3+1 others(35): Show c.3+13528_3+13547dupTTTTTTTTTTTTTTTTTTTT	DSTN	ENSG00000125868.16	transcript	ENST00000246069.12	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
DSTYK_chr1_205137505_205216702	205181653	G G	GGTGTGTG others(13): Show GGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0066 a0001c0001t0002g0066	1	348	0.0029	20	c.654 others(37): Show c.654+5764_654+5765insACACACACACACACACACAC	DSTYK	ENSG00000133059.18	transcript	ENST00000367162.8	protein_coding	2/12			chr1	TogoVar
DST_chr6_56452996_56959830	56712100	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0008 a0008	a0008c0049 a0008c0049	a0008c0049t0001 a0008c0049t0001	a0008c0049t0001g0020 a0008c0049t0001g0020	1	84	0.0119	20	c.688 others(37): Show c.688-7732_688-7731insGTTTTTTTTTTTTTTTTTTT	DST	ENSG00000151914.22	transcript	ENST00000680361.1	protein_coding	5/103			chr6	TogoVar
DST_chr6_56452996_56959830	56717810	C C	CCCCCAAG others(13): Show CCCCCAAGCTATCCTTGAAAA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01074.hp1 HG01109.hp2 others(35): Show HG01069.hp1 HG01074.hp1 HG01109.hp2 HG01358.hp2 HG01433.hp1 HG01884.hp1 HG02055.hp2 HG02145.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp2 HG02572.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02683.hp2 HG02809.hp1 HG02895.hp1 HG03041.hp1 HG03098.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03471.hp1 HG03486.hp2 HG03516.hp1 HG03579.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA19043.hp1 NA19043.hp2 NA20129.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(21): Show a0001 a0002 a0003 a0006 a0007 a0008 a0009 a0011 a0013 a0014 a0015 a0017 a0018 a0020 a0021 a0024 a0025 a0026 a0030 a0031 a0033 a0034 a0035 a0048	a0001c0005 a0002c0002 a0003c0004 others(24): Show a0001c0005 a0002c0002 a0003c0004 a0006c0007 a0007c0008 a0007c0053 a0008c0049 a0008c0052 a0009c0016 a0009c0056 a0011c0015 a0013c0013 a0014c0011 a0015c0012 a0017c0023 a0018c0021 a0020c0022 a0021c0017 a0024c0019 a0025c0020 a0026c0014 a0030c0043 a0031c0054 a0033c0042 a0034c0050 a0035c0055 a0048c0018	a0001c0005t0001 a0002c0002t0001 a0003c0004t0001 others(24): Show a0001c0005t0001 a0002c0002t0001 a0003c0004t0001 a0006c0007t0001 a0007c0008t0001 a0007c0053t0001 a0008c0049t0001 a0008c0052t0001 a0009c0016t0001 a0009c0056t0001 a0011c0015t0001 a0013c0013t0001 a0014c0011t0001 a0015c0012t0001 a0017c0023t0001 a0018c0021t0001 a0020c0022t0001 a0021c0017t0001 a0024c0019t0002 a0025c0020t0001 a0026c0014t0001 a0030c0043t0001 a0031c0054t0001 a0033c0042t0001 a0034c0050t0001 a0035c0055t0002 a0048c0018t0005	a0001c0005t0001g0032 a0001c0005t0001g0079 a0001c0005t0001g0080 others(35): Show a0001c0005t0001g0032 a0001c0005t0001g0079 a0001c0005t0001g0080 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0069 a0002c0002t0001g0077 a0003c0004t0001g0024 a0003c0004t0001g0025 a0003c0004t0001g0031 a0003c0004t0001g0061 a0006c0007t0001g0013 a0006c0007t0001g0014 a0006c0007t0001g0071 a0007c0008t0001g0052 a0007c0053t0001g0049 a0008c0049t0001g0020 a0008c0052t0001g0022 a0009c0016t0001g0060 a0009c0056t0001g0016 a0011c0015t0001g0058 a0013c0013t0001g0076 a0014c0011t0001g0075 a0015c0012t0001g0062 a0017c0023t0001g0082 a0018c0021t0001g0017 a0020c0022t0001g0027 a0021c0017t0001g0068 a0024c0019t0002g0074 a0025c0020t0001g0073 a0026c0014t0001g0059 a0030c0043t0001g0023 a0031c0054t0001g0028 a0033c0042t0001g0053 a0034c0050t0001g0019 a0035c0055t0002g0021 a0048c0018t0005g0044	38	84	0.4524	20	c.688 others(39): Show c.688-13461_688-13442dupTTTTCAAGGATAGCTTGGGG	DST	ENSG00000151914.22	transcript	ENST00000680361.1	protein_coding	5/103			chr6	TogoVar

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