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 per page.

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
DPF3_chr14_72604034_72899101	72756906	A A	AAAAAAAG others(20): Show AAAAAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0098 a0001c0001t0098	a0001c0001t0098g0144 a0001c0001t0098g0144	1	234	0.0043	27	c.194 others(44): Show c.194-3536_194-3535insCTTTCTTTCTTTCTTTCTTTCTTTTTT	DPF3	ENSG00000205683.12	transcript	ENST00000556509.6	protein_coding	2/10			chr14	TogoVar
DPF3_chr14_72604034_72899101	72838905	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02055.hp2 HG01175.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0033 a0001c0001t0001 a0001c0002t0033	a0001c0001t0001g0026 a0001c0002t0033g0229 a0001c0001t0001g0026 a0001c0002t0033g0229	2	234	0.0086	27	c.32+ others(44): Show c.32+55151_32+55152insATATATATATATATATATATATATATA	DPF3	ENSG00000205683.12	transcript	ENST00000556509.6	protein_coding	1/10			chr14	TogoVar
DPF3_chr14_72604034_72899101	72838906	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0004 a0001c0001t0003g0004	1	234	0.0043	27	c.32+ others(44): Show c.32+55150_32+55151insTATATATATATATATATATATATATAT	DPF3	ENSG00000205683.12	transcript	ENST00000556509.6	protein_coding	1/10			chr14	TogoVar
DPH6_chr15_35365880_35551165	35496565	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0098 a0001c0001t0002g0098	1	228	0.0044	27	c.312 others(46): Show c.312+41708_312+41709insATATATATATATATATATATATATAT A	DPH6	ENSG00000134146.12	transcript	ENST00000256538.9	protein_coding	3/8			chr15	TogoVar
DPH6_chr15_35365880_35551165	35496567	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 NA18942.hp1 NA18946.hp1 others(2): Show HG01884.hp1 NA18942.hp1 NA18946.hp1 NA18969.hp1 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0029 a0001c0001t0001g0056 a0001c0001t0001g0058 others(2): Show a0001c0001t0001g0029 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0002g0078	5	228	0.0219	27	c.312 others(46): Show c.312+41706_312+41707insATATATATATTTTTTTTTTTTTTTTT T	DPH6	ENSG00000134146.12	transcript	ENST00000256538.9	protein_coding	3/8			chr15	TogoVar
DPH6_chr15_35365880_35551165	35496567	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG04184.hp2 HG02886.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0080 a0001c0001t0002g0226 a0001c0001t0002g0080 a0001c0001t0002g0226	2	228	0.0088	27	c.312 others(46): Show c.312+41706_312+41707insATATATATATATTTTTTTTTTTTTTT T	DPH6	ENSG00000134146.12	transcript	ENST00000256538.9	protein_coding	3/8			chr15	TogoVar
DPH6_chr15_35365880_35551165	35496567	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp2 NA19043.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0052 a0001c0001t0002g0039 a0001c0001t0001g0052 a0001c0001t0002g0039	2	228	0.0088	27	c.312 others(46): Show c.312+41706_312+41707insATATATATATATATTTTTTTTTTTTT T	DPH6	ENSG00000134146.12	transcript	ENST00000256538.9	protein_coding	3/8			chr15	TogoVar
DPH6_chr15_35365880_35551165	35542945	A A	AATATATA others(20): Show AATATATATATATATATATAGTATATAT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0191 a0002c0002t0003g0191	1	228	0.0044	27	c.24- others(40): Show c.24-439_24-438insATATATACTATATATATATATATATAT	DPH6	ENSG00000134146.12	transcript	ENST00000256538.9	protein_coding	1/8			chr15	TogoVar
DPM1_chr20_50929870_50963532	50941360	C C	CATATATA others(20): Show CATATATATTCATATTATATATATTCAT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03516.hp2 HG03471.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0068 a0001c0001t0001g0069	2	380	0.0053	27	c.495 others(42): Show c.495-454_495-428dupATGAATATATATAATATGAATATATAT	DPM1	ENSG00000000419.14	transcript	ENST00000371588.10	protein_coding	6/8			chr20	TogoVar
DPP10_chr2_114437641_115850780	114834656	A A	ATATATAA others(20): Show ATATATAAGCCATGTCTACGCACCTATG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02896.hp1 HG03579.hp1 HG00639.hp1 HG02896.hp1 HG03579.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0001c0004 a0004c0005 a0001c0002 a0001c0004 a0004c0005	a0001c0002t0001 a0001c0004t0004 a0004c0005t0016 a0001c0002t0001 a0001c0004t0004 a0004c0005t0016	a0001c0002t0001g0010 a0001c0004t0004g0021 a0004c0005t0016g0044 a0001c0002t0001g0010 a0001c0004t0004g0021 a0004c0005t0016g0044	3	56	0.0536	27	c.60+ others(46): Show c.60+391824_60+391825insAGCCATGTCTACGCACCTATGTATAT A	DPP10	ENSG00000175497.17	transcript	ENST00000410059.6	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
DPP10_chr2_114437641_115850780	115334230	G G	GTTTTTTT others(20): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0011 a0005c0007t0011	a0005c0007t0011g0052 a0005c0007t0011g0052	1	56	0.0179	27	c.176 others(44): Show c.176-9571_176-9570insTTTTTTTTTTTTTTTTTTTTTTTTTTT	DPP10	ENSG00000175497.17	transcript	ENST00000410059.6	protein_coding	2/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
DPP10_chr2_114437641_115850780	115712566	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0012 a0001c0002t0001g0012	1	56	0.0179	27	c.577 others(46): Show c.577-15250_577-15249insTATATATATATATATATATATATATA T	DPP10	ENSG00000175497.17	transcript	ENST00000410059.6	protein_coding	7/25			chr2	TogoVar
DPP4_chr2_161987245_162079215	161987840	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG02970.hp1 HG00323.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0024 a0001c0001t0002g0228 a0001c0001t0001g0024 a0001c0001t0002g0228	2	292	0.0069	27	c.54 others(38): Show c.5442_*5443insTATATATATATATATATATATATATAT	DPP4	ENSG00000197635.11	transcript	ENST00000360534.8	protein_coding		4404		chr2	TogoVar
DPP6_chr7_154047398_154899285	154852500	G G	GCCTCTCC others(20): Show GCCTCTCCTGCCTCTCCTCCCTCTCCTC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0009 a0001c0018t0009	a0001c0018t0009g0023 a0001c0018t0009g0023	1	38	0.0263	27	c.166 others(46): Show c.1667-1272_1667-1271insGCCTCTCCTCCCTCTCCTCCCTCTCC T	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	16/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
DPP6_chr7_154047398_154899285	154852500	G G	GCCTCTCC others(20): Show GCCTCTCCTGCCTCTCCTGCCTCTCCTC	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0002 a0002	a0002c0019 a0002c0019	a0002c0019t0001 a0002c0019t0001	a0002c0019t0001g0021 a0002c0019t0001g0021	1	38	0.0263	27	c.166 others(46): Show c.1667-1272_1667-1271insGCCTCTCCTGCCTCTCCTCCCTCTCC T	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	16/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
DPY19L1_chr7_34923881_35042485	35017501	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04184.hp1 NA19076.hp1 HG04184.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0176 a0001c0001t0001g0145 a0001c0001t0001g0176	2	328	0.0061	27	c.411 others(42): Show c.411+380_411+381insTTTTTTTTTTTTTTTTTTTTTTTTTTT	DPY19L1	ENSG00000173852.16	transcript	ENST00000638088.2	protein_coding	3/21			chr7	TogoVar
DPY19L2_chr12_63553913_63673493	63592011	G G	GAGGGGAG others(20): Show GAGGGGAGGGGAGGGGAGGGGAGGGGGT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0229	1	362	0.0028	27	c.158 others(46): Show c.1580+2075_1580+2076insACCCCCTCCCCTCCCCTCCCCTCCCC T	DPY19L2	ENSG00000177990.12	transcript	ENST00000324472.9	protein_coding	16/21			chr12	TogoVar
DPYSL5_chr2_26843132_26955351	26936945	T T	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0074 a0001c0001t0013g0074	1	232	0.0043	27	c.947 others(44): Show c.947+2227_947+2228insAAAAAAAAAAAAAAAAAAAAAAAAAAA	DPYSL5	ENSG00000157851.17	transcript	ENST00000288699.11	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
DPYS_chr8_104374431_104472055	104440294	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	380	0.0026	27	c.793 others(44): Show c.793+3953_793+3954insAAAAAAAAAAAAAAAAAAAAAAAAAAA	DPYS	ENSG00000147647.13	transcript	ENST00000351513.7	protein_coding	4/9			chr8	TogoVar
DRAM1_chr12_101872580_101928612	101895186	G G	GTTTTTTT others(20): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA19063.hp1 NA19084.hp2 NA18998.hp2 NA19063.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0030 a0001c0001t0001 a0001c0001t0030	a0001c0001t0001g0216 a0001c0001t0001g0266 a0001c0001t0030g0094 a0001c0001t0001g0216 a0001c0001t0001g0266 a0001c0001t0030g0094	3	396	0.0076	27	c.132 others(44): Show c.132-2673_132-2647dupTTTTTTTTTTTTTTTTTTTTTTTTTTT	DRAM1	ENSG00000136048.14	transcript	ENST00000258534.13	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr12	TogoVar
DRC1_chr2_26396920_26461711	26418575	T T	TATATATA others(20): Show TATATATAAATTATATATAATTTATATA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0218 a0004c0003t0001g0218	1	384	0.0026	27	c.244 others(44): Show c.244-2692_244-2666dupTTATATAATATATAAATTATATATAAT	DRC1	ENSG00000157856.12	transcript	ENST00000288710.7	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
DRC1_chr2_26396920_26461711	26418620	A A	AATATAAA others(20): Show AATATAAATTATATATAATTTATATATT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02615.hp2 HG02976.hp2 HG00639.hp2 HG02615.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0315 a0001c0001t0001g0330 a0001c0001t0001g0225 a0001c0001t0001g0315 a0001c0001t0001g0330	3	384	0.0078	27	c.244 others(44): Show c.244-2643_244-2642insTTATATAAATTATATATAATTTATATA	DRC1	ENSG00000157856.12	transcript	ENST00000288710.7	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
DRD1_chr5_175435036_175449182	175447609	A A	AAATTTCT others(20): Show AAATTTCTGTCATTTTCAATGAAATGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00323.hp1 others(66): Show HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00642.hp2 HG00733.hp2 HG01081.hp2 HG01168.hp1 HG01346.hp2 HG01515.hp2 HG01517.hp1 HG01891.hp1 HG01975.hp1 HG01978.hp1 HG02004.hp1 HG02015.hp1 HG02132.hp1 HG02135.hp2 HG02155.hp1 HG02165.hp2 HG02602.hp1 HG02622.hp1 HG02895.hp1 HG02897.hp2 HG02970.hp1 HG02976.hp2 HG03041.hp1 HG03195.hp2 HG03239.hp1 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG03927.hp1 HG04228.hp1 NA18612.hp2 NA18747.hp1 NA18948.hp2 NA18949.hp2 NA18951.hp1 NA18952.hp1 NA18957.hp2 NA18968.hp2 NA18969.hp2 NA18972.hp2 NA18973.hp1 NA18976.hp2 NA18981.hp1 NA18985.hp2 NA18992.hp2 NA19004.hp1 NA19005.hp1 NA19007.hp2 NA19009.hp1 NA19011.hp1 NA19011.hp2 NA19058.hp2 NA19063.hp2 NA19076.hp2 NA19081.hp1 NA19083.hp1 NA19089.hp2 NA19091.hp1 NA20752.hp1 NA20805.hp2 NA21309.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0007 a0001c0001 a0004c0007	a0001c0001t0004 a0001c0001t0005 a0001c0001t0012 others(3): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0012 a0001c0001t0014 a0001c0001t0031 a0004c0007t0004	a0001c0001t0004g0003 a0001c0001t0005g0005 a0001c0001t0012g0014 others(3): Show a0001c0001t0004g0003 a0001c0001t0005g0005 a0001c0001t0012g0014 a0001c0001t0014g0016 a0001c0001t0031g0038 a0004c0007t0004g0028	69	490	0.1408	27	c.-43 others(38): Show c.-4395_-4394insGTCATTTCATTGAAAATGACAGAAATT	DRD1	ENSG00000184845.4	transcript	ENST00000393752.3	protein_coding		3428		chr5	TogoVar
DRD1_chr5_175435036_175449182	175447620	A A	ATTTTCAA others(20): Show ATTTTCAATGAAATGACAATTTCTGTCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG00673.hp2 HG01175.hp1 others(94): Show HG00621.hp1 HG00673.hp2 HG01175.hp1 HG01243.hp2 HG02040.hp2 HG02071.hp1 HG02080.hp1 HG02129.hp1 HG02132.hp2 HG02145.hp2 HG02148.hp2 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02451.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02698.hp1 HG02738.hp1 HG02886.hp1 HG02896.hp1 HG02897.hp1 HG03041.hp2 HG03139.hp1 HG03209.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03579.hp2 HG03834.hp1 HG04115.hp1 HG06807.hp1 NA18522.hp1 NA18939.hp2 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18948.hp1 NA18949.hp1 NA18951.hp2 NA18953.hp2 NA18954.hp1 NA18955.hp1 NA18959.hp1 NA18961.hp1 NA18963.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp2 NA18974.hp1 NA18975.hp1 NA18979.hp1 NA18980.hp2 NA18982.hp1 NA18983.hp1 NA18985.hp1 NA18987.hp1 NA18988.hp2 NA18989.hp2 NA18990.hp2 NA18993.hp1 NA18995.hp1 NA18997.hp2 NA18998.hp1 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19003.hp1 NA19003.hp2 NA19005.hp2 NA19006.hp2 NA19054.hp1 NA19056.hp2 NA19059.hp2 NA19060.hp2 NA19062.hp2 NA19066.hp1 NA19070.hp2 NA19072.hp1 NA19074.hp1 NA19076.hp1 NA19077.hp2 NA19080.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19085.hp2 NA19088.hp2 NA19089.hp1 NA19090.hp2 NA20300.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0005 a0001c0001 a0001c0002 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0026 a0001c0001t0030 a0001c0002t0002 a0001c0002t0024 a0003c0005t0023	a0001c0001t0001g0001 a0001c0001t0002g0004 a0001c0001t0004g0003 others(7): Show a0001c0001t0001g0001 a0001c0001t0002g0004 a0001c0001t0004g0003 a0001c0001t0005g0005 a0001c0001t0006g0007 a0001c0001t0026g0031 a0001c0001t0030g0037 a0001c0002t0002g0006 a0001c0002t0024g0025 a0003c0005t0023g0026	97	490	0.1980	27	c.-44 others(38): Show c.-4406_-4405insCGACAGAAATTGTCATTTCATTGAAAA	DRD1	ENSG00000184845.4	transcript	ENST00000393752.3	protein_coding		3439		chr5	TogoVar
DRD3_chr3_114122580_114184052	114156756	T T	TTTCTTTC others(20): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0003 a0002c0001t0003	a0002c0001t0003g0198 a0002c0001t0003g0198	1	360	0.0028	27	c.383 others(44): Show c.383+2972_383+2998dupGAAAGAAAGAAAGAAAGAAAGAAAGAA	DRD3	ENSG00000151577.14	transcript	ENST00000383673.5	protein_coding	3/6			chr3	TogoVar
DROSHA_chr5_31395494_31537093	31421897	A A	AAATATAT others(20): Show AAATATATATATATATATATATATGCGC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03209.hp2 NA19030.hp2 HG03098.hp2 HG03209.hp2 NA19030.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0003 a0003c0006t0003	a0003c0006t0003g0101 a0003c0006t0003g0293 a0003c0006t0003g0294 a0003c0006t0003g0101 a0003c0006t0003g0293 a0003c0006t0003g0294	3	322	0.0093	27	c.342 others(44): Show c.3420-521_3420-520insGCGCATATATATATATATATATATATT	DROSHA	ENSG00000113360.17	transcript	ENST00000344624.8	protein_coding	29/35			chr5	TogoVar
DROSHA_chr5_31395494_31537093	31421898	T T	TATATATA others(20): Show TATATATATATATATATATATATGCGCC	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01261.hp1 HG01358.hp1 others(5): Show HG01168.hp1 HG01261.hp1 HG01358.hp1 HG01515.hp1 HG02257.hp1 HG03831.hp2 HG04199.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0017 a0002c0004 a0001c0001 a0001c0017 a0002c0004	a0001c0001t0002 a0001c0001t0005 a0001c0017t0001 others(1): Show a0001c0001t0002 a0001c0001t0005 a0001c0017t0001 a0002c0004t0002	a0001c0001t0002g0138 a0001c0001t0005g0302 a0001c0001t0005g0305 others(5): Show a0001c0001t0002g0138 a0001c0001t0005g0302 a0001c0001t0005g0305 a0001c0001t0005g0320 a0001c0001t0005g0321 a0001c0001t0005g0322 a0001c0017t0001g0295 a0002c0004t0002g0155	8	322	0.0248	27	c.342 others(44): Show c.3420-522_3420-521insGGCGCATATATATATATATATATATAT	DROSHA	ENSG00000113360.17	transcript	ENST00000344624.8	protein_coding	29/35			chr5	TogoVar
DSCAML1_chr11_117422772_117802216	117687426	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG03239.hp2 NA18966.hp1 others(1): Show HG02083.hp1 HG03239.hp2 NA18966.hp1 NA19012.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0018 a0002c0064 a0003c0041 others(1): Show a0001c0018 a0002c0064 a0003c0041 a0004c0061	a0001c0018t0002 a0002c0064t0001 a0003c0041t0001 others(1): Show a0001c0018t0002 a0002c0064t0001 a0003c0041t0001 a0004c0061t0002	a0001c0018t0002g0087 a0002c0064t0001g0165 a0003c0041t0001g0097 others(1): Show a0001c0018t0002g0087 a0002c0064t0001g0165 a0003c0041t0001g0097 a0004c0061t0002g0106	4	194	0.0206	27	c.511 others(46): Show c.511+89364_511+89365insAAAAAAAAAAAAAAAAAAAAAAAAAA A	DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	3/32			chr11	TogoVar
DSCAML1_chr11_117422772_117802216	117694057	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0187 a0002c0006t0001g0187	1	194	0.0052	27	c.511 others(46): Show c.511+82733_511+82734insTATATATATATATATATATATATATA T	DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	3/32			chr11	TogoVar
DSN1_chr20_36746795_36778763	36775773	G G	GCAGGAGA others(20): Show GCAGGAGAATCACTTGAACCTGGGAGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0242 a0001c0001t0009g0242	1	332	0.0030	27	c.-21 others(38): Show c.-2128_-2127insGCCTCCCAGGTTCAAGTGATTCTCCTG	DSN1	ENSG00000149636.16	transcript	ENST00000373750.9	protein_coding		2011		chr20	TogoVar
DSTN_chr20_17565075_17614919	17583735	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0276 a0001c0001t0005g0276	1	348	0.0029	27	c.3+1 others(42): Show c.3+13547_3+13548insTTTTTTTTTTTTTTTTTTTTTTTTTTT	DSTN	ENSG00000125868.16	transcript	ENST00000246069.12	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
DTNA_chr18_34705298_34896844	34769725	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp2 HG01069.hp1 others(19): Show HG00642.hp1 HG00642.hp2 HG01069.hp1 HG01070.hp2 HG01167.hp2 HG01255.hp1 HG01256.hp1 HG01978.hp1 HG01978.hp2 HG02451.hp2 HG02523.hp2 HG02630.hp2 HG02698.hp1 HG03017.hp1 HG03098.hp1 HG03209.hp1 HG03834.hp1 NA18522.hp1 NA18962.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0016 a0001c0001t0018	a0001c0001t0001g0019 a0001c0001t0001g0026 a0001c0001t0001g0027 others(19): Show a0001c0001t0001g0019 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0032 a0001c0001t0001g0047 a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0001g0072 a0001c0001t0001g0079 a0001c0001t0002g0018 a0001c0001t0002g0051 a0001c0001t0003g0060 a0001c0001t0004g0068 a0001c0001t0004g0078 a0001c0001t0005g0005 a0001c0001t0006g0003 a0001c0001t0008g0069 a0001c0001t0009g0106 a0001c0001t0012g0074 a0001c0001t0016g0067 a0001c0001t0018g0053	22	112	0.1964	27	c.148 others(44): Show c.148+3699_148+3700insTTTTTTTTTTTTTTTTTTTTTTTTTTT	DTNA	ENSG00000134769.23	transcript	ENST00000444659.6	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr18	TogoVar
DTNB_chr2_25372243_25678577	25526395	A A	ATATATAT others(20): Show ATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	168	0.0060	27	c.100 others(46): Show c.1001+5077_1001+5078insAAAAATATATATATATATATATATAT A	DTNB	ENSG00000138101.20	transcript	ENST00000406818.8	protein_coding	9/20			chr2	TogoVar
DTX2_chr7_76456709_76510991	76468758	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0154 a0001c0003t0001g0154	1	280	0.0036	27	c.-90 others(44): Show c.-90+5071_-90+5072insTTTTTTTTTTTTTTTTTTTTTTTTTTT	DTX2	ENSG00000091073.20	transcript	ENST00000430490.7	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
DTX2_chr7_76456709_76510991	76486846	G G	GGCGGCGG others(20): Show GGCGGCGGCTGCTGCTGCTGCTGCTGCT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03209.hp2 HG02922.hp2 HG03209.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0117 a0004c0006t0001g0118 a0004c0006t0001g0117 a0004c0006t0001g0118	2	280	0.0071	27	c.908 others(44): Show c.908+3701_908+3702insGGCGGCTGCTGCTGCTGCTGCTGCTGC	DTX2	ENSG00000091073.20	transcript	ENST00000430490.7	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
DTX2_chr7_76456709_76510991	76486884	C C	CTGCTGCT others(20): Show CTGCTGCTGCTGCTGCTGCTGCTGCTTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01109.hp2 HG01123.hp1 others(7): Show HG00735.hp1 HG01109.hp2 HG01123.hp1 HG02055.hp1 HG02135.hp2 HG03704.hp2 NA19060.hp2 NA20752.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0002 a0003 a0005 a0002 a0003 a0005	a0002c0002 a0003c0004 a0005c0033 a0002c0002 a0003c0004 a0005c0033	a0002c0002t0001 a0003c0004t0001 a0005c0033t0001 a0002c0002t0001 a0003c0004t0001 a0005c0033t0001	a0002c0002t0001g0207 a0003c0004t0001g0189 a0003c0004t0001g0234 others(7): Show a0002c0002t0001g0207 a0003c0004t0001g0189 a0003c0004t0001g0234 a0003c0004t0001g0235 a0003c0004t0001g0237 a0003c0004t0001g0247 a0003c0004t0001g0250 a0003c0004t0001g0254 a0003c0004t0001g0257 a0005c0033t0001g0233	10	280	0.0357	27	c.908 others(44): Show c.908+3740_908+3741insTGCTGCTGCTGCTGCTGCTGCTTTTGC	DTX2	ENSG00000091073.20	transcript	ENST00000430490.7	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
DTX2_chr7_76456709_76510991	76498794	G G	GGGTGTGT others(20): Show GGGTGTGTGGAGGTGTGGGGGTGTGTGA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00423.hp1 HG00558.hp1 others(69): Show HG00280.hp2 HG00423.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp2 HG00621.hp1 HG00673.hp2 HG00735.hp2 HG01070.hp2 HG01071.hp2 HG01123.hp2 HG01175.hp2 HG01243.hp2 HG01256.hp2 HG01258.hp1 HG01261.hp2 HG01358.hp1 HG01928.hp1 HG01928.hp2 HG01952.hp2 HG01975.hp1 HG02015.hp2 HG02040.hp2 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02129.hp1 HG02165.hp2 HG02257.hp2 HG02273.hp2 HG02293.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02818.hp1 HG02886.hp1 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02976.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp1 HG03688.hp2 HG03704.hp1 HG03831.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp2 NA18942.hp1 NA18947.hp1 NA18952.hp1 NA18971.hp2 NA18983.hp2 NA18995.hp2 NA19007.hp2 NA19060.hp2 NA19240.hp2 NA20300.hp2 NA20752.hp2	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0009 a0014	a0001c0003 a0001c0013 a0002c0002 others(8): Show a0001c0003 a0001c0013 a0002c0002 a0002c0007 a0002c0008 a0002c0020 a0002c0029 a0005c0025 a0005c0027 a0009c0015 a0014c0016	a0001c0003t0001 a0001c0013t0001 a0002c0002t0001 others(10): Show a0001c0003t0001 a0001c0013t0001 a0002c0002t0001 a0002c0002t0005 a0002c0002t0007 a0002c0007t0001 a0002c0008t0004 a0002c0020t0009 a0002c0029t0001 a0005c0025t0001 a0005c0027t0001 a0009c0015t0001 a0014c0016t0001	a0001c0003t0001g0116 a0001c0003t0001g0136 a0001c0003t0001g0137 others(68): Show a0001c0003t0001g0116 a0001c0003t0001g0136 a0001c0003t0001g0137 a0001c0003t0001g0138 a0001c0003t0001g0140 a0001c0003t0001g0141 a0001c0003t0001g0142 a0001c0003t0001g0145 a0001c0003t0001g0146 a0001c0003t0001g0150 a0001c0003t0001g0151 a0001c0003t0001g0152 a0001c0003t0001g0153 a0001c0003t0001g0158 a0001c0003t0001g0219 a0001c0003t0001g0220 a0001c0003t0001g0266 a0001c0003t0001g0267 a0001c0013t0001g0224 a0002c0002t0001g0004 a0002c0002t0001g0125 a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0001g0163 a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0190 a0002c0002t0001g0192 a0002c0002t0001g0193 a0002c0002t0001g0194 a0002c0002t0001g0195 a0002c0002t0001g0197 a0002c0002t0001g0198 a0002c0002t0001g0199 a0002c0002t0001g0200 a0002c0002t0001g0204 a0002c0002t0001g0205 a0002c0002t0001g0206 a0002c0002t0001g0207 a0002c0002t0001g0208 a0002c0002t0001g0209 a0002c0002t0001g0211 a0002c0002t0001g0212 a0002c0002t0001g0213 a0002c0002t0001g0214 a0002c0002t0001g0215 a0002c0002t0001g0217 a0002c0002t0001g0218 a0002c0002t0001g0221 a0002c0002t0001g0222 a0002c0002t0001g0223 a0002c0002t0001g0225 a0002c0002t0001g0226 a0002c0002t0001g0231 a0002c0002t0005g0006 a0002c0002t0005g0274 a0002c0002t0007g0201 a0002c0007t0001g0185 a0002c0007t0001g0270 a0002c0007t0001g0271 a0002c0007t0001g0272 a0002c0007t0001g0275 a0002c0007t0001g0276 a0002c0008t0004g0132 a0002c0008t0004g0133 a0002c0020t0009g0011 a0002c0029t0001g0005 a0005c0025t0001g0143 a0005c0027t0001g0139 a0009c0015t0001g0191 a0014c0016t0001g0227	72	280	0.2571	27	c.115 others(46): Show c.1150+1336_1150+1337insGTGTGTGAGGTGTGTGGAGGTGTGGG G	DTX2	ENSG00000091073.20	transcript	ENST00000430490.7	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
DUSP29_chr10_75032472_75078642	75074317	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0051 a0006c0007t0001g0051	1	368	0.0027	27	c.-78 others(36): Show c.-784_-783insATATATATATATATATATATATATATA	DUSP29	ENSG00000188716.6	transcript	ENST00000338487.6	protein_coding		676		chr10	TogoVar
DUSP2_chr2_96138169_96150440	96138569	G G	GCCTCCAC others(20): Show GCCTCCACCTGCAGCCCCGCCCCAACCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00597.hp2 HG02165.hp2 others(5): Show HG00423.hp1 HG00597.hp2 HG02165.hp2 NA18950.hp1 NA18951.hp2 NA18956.hp1 NA18959.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	8	422	0.0190	27	c.52 others(38): Show c.5253_*5254insTGGTTGGGGCGGGGCTGCAGGTGGAGG	DUSP2	ENSG00000158050.5	transcript	ENST00000288943.5	protein_coding		4599		chr2	TogoVar
DUSP2_chr2_96138169_96150440	96138597	C C	CCTCCACC others(20): Show CCTCCACCTGCAGCCCCGCCCCAACCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG02109.hp2 HG02257.hp2 others(6): Show HG01884.hp2 HG02109.hp2 HG02257.hp2 HG02965.hp1 HG03130.hp1 HG03139.hp2 HG03516.hp2 HG03579.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	9	422	0.0213	27	c.52 others(38): Show c.5225_*5226insATGGTTGGGGCGGGGCTGCAGGTGGAG	DUSP2	ENSG00000158050.5	transcript	ENST00000288943.5	protein_coding		4571		chr2	TogoVar
DUSP2_chr2_96138169_96150440	96138624	T T	TCTCCACC others(20): Show TCTCCACCTGCAGCCCCGCCCCAACCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG00408.hp2 others(91): Show HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00544.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01081.hp1 HG01109.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01258.hp2 HG01358.hp1 HG01361.hp1 HG01496.hp1 HG01891.hp1 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG01981.hp1 HG01993.hp1 HG02004.hp2 HG02040.hp1 HG02056.hp1 HG02074.hp2 HG02083.hp1 HG02132.hp1 HG02145.hp2 HG02148.hp2 HG02258.hp2 HG02280.hp1 HG02293.hp2 HG02486.hp2 HG02523.hp2 HG02622.hp2 HG02735.hp1 HG02735.hp2 HG02922.hp1 HG03239.hp1 HG03453.hp2 HG03491.hp1 HG03492.hp2 HG03654.hp1 HG03669.hp2 HG03942.hp2 HG04115.hp1 NA18522.hp2 NA18939.hp1 NA18947.hp2 NA18948.hp1 NA18950.hp2 NA18955.hp2 NA18960.hp2 NA18962.hp1 NA18964.hp1 NA18966.hp1 NA18974.hp2 NA18981.hp2 NA18983.hp2 NA18985.hp2 NA19000.hp1 NA19000.hp2 NA19007.hp2 NA19010.hp1 NA19043.hp2 NA19058.hp1 NA19063.hp2 NA19066.hp1 NA19066.hp2 NA19074.hp1 NA19077.hp1 NA19085.hp1 NA19240.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	94	422	0.2228	27	c.51 others(38): Show c.5198_*5199insGTGGTTGGGGCGGGGCTGCAGGTGGAG	DUSP2	ENSG00000158050.5	transcript	ENST00000288943.5	protein_coding		4544		chr2	TogoVar
DUSP2_chr2_96138169_96150440	96138651	C C	CCTCCACC others(20): Show CCTCCACCTGCAGCCCCGCCCCAACCAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00673.hp1 NA18956.hp2 others(4): Show HG00140.hp1 HG00673.hp1 NA18956.hp2 NA18960.hp1 NA18967.hp2 NA19055.hp1 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0001 a0001c0002t0001g0004 a0001c0001t0001g0001 a0001c0002t0001g0004	7	422	0.0166	27	c.51 others(38): Show c.5171_*5172insCTGGTTGGGGCGGGGCTGCAGGTGGAG	DUSP2	ENSG00000158050.5	transcript	ENST00000288943.5	protein_coding		4517		chr2	TogoVar
DUXA_chr19_57149021_57172485	57165322	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04204.hp1 NA20300.hp2 HG04204.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0076 a0001c0001t0002g0180 a0001c0001t0001g0076 a0001c0001t0002g0180	2	446	0.0045	27	c.25+ others(42): Show c.25+2096_25+2097insATATATATATATATATATATATATATA	DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding	1/5			chr19	TogoVar
DVL2_chr17_7220342_7239517	7233087	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0157 a0001c0003t0002g0157	1	406	0.0025	27	c.194 others(42): Show c.194+981_194+982insTTTTTTTTTTTTTTTTTTTTTTTTTTT	DVL2	ENSG00000004975.12	transcript	ENST00000005340.10	protein_coding	1/14			chr17	TogoVar
DYM_chr18_49031387_49465645	49317646	C C	CTCCTCTC others(20): Show CTCCTCTCCTCTCCTCTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02015.hp1 HG02135.hp1 others(1): Show HG00741.hp2 HG02015.hp1 HG02135.hp1 HG02717.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0040 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0040 a0005c0006t0006	a0001c0001t0001g0219 a0001c0001t0003g0210 a0001c0001t0040g0230 others(1): Show a0001c0001t0001g0219 a0001c0001t0003g0210 a0001c0001t0040g0230 a0005c0006t0006g0157	4	290	0.0138	27	c.763 others(46): Show c.763+14217_763+14218insAGGAAGGAAGGAGAGGAGAGGAGAGG A	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	8/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49393043	A A	AGGGGAGG others(20): Show AGGGGAGGAGGGGAGGAGGAGGAGGAGG	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	290	0.0035	27	c.141 others(44): Show c.141-1399_141-1398insCCTCCTCCTCCTCCTCCCCTCCTCCCC	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	2/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49440859	T T	TTATATAA others(20): Show TTATATAAATATATTATATTTTATATAA	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01891.hp2 HG01256.hp1 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0250 a0001c0001t0005g0276 a0001c0001t0005g0250 a0001c0001t0005g0276	2	290	0.0069	27	c.-53 others(46): Show c.-53-10413_-53-10412insTTATATAAAATATAATATATTTATAT A	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	1/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49440967	T T	TTTATATA others(20): Show TTTATATATTATATATAATATATATTTA	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0253 a0001c0001t0001g0253	1	290	0.0035	27	c.-53 others(46): Show c.-53-10521_-53-10520insTAAATATATATTATATATAATATATA A	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	1/17			chr18	TogoVar
DYNC1LI1_chr3_32520974_32575858	32532480	A A	ATGTGTAT others(20): Show ATGTGTATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02132.hp1 NA18971.hp1 others(1): Show HG01981.hp1 HG02132.hp1 NA18971.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0301 a0001c0001t0001g0307 a0001c0001t0001g0308 others(1): Show a0001c0001t0001g0301 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0310	4	336	0.0119	27	c.108 others(44): Show c.1080+505_1080+506insATATATATATATATATATATATACACA	DYNC1LI1	ENSG00000144635.9	transcript	ENST00000273130.9	protein_coding	8/12			chr3	TogoVar
DYNC1LI1_chr3_32520974_32575858	32532480	A A	ATGTGTAT others(20): Show ATGTGTATGTATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA19009.hp2 NA18983.hp1 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0018 a0001c0001t0003g0021 a0001c0001t0003g0018 a0001c0001t0003g0021	2	336	0.0060	27	c.108 others(44): Show c.1080+505_1080+506insATATATATATATATATATACATACACA	DYNC1LI1	ENSG00000144635.9	transcript	ENST00000273130.9	protein_coding	8/12			chr3	TogoVar

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