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
CSMD1_chr8_2930361_4999914	4925215	G G	GGTTTTTT others(9): Show GGTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0002 a0002	a0002c0036 a0002c0036	a0002c0036t0029 a0002c0036t0029	a0002c0036t0029g0009 a0002c0036t0029g0009	1	126	0.0079	16	c.85+ others(33): Show c.85+69116_85+69117insAAAAAAAAAAAAAAAC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	1/69			chr8	TogoVar
CSMD2_chr1_33508998_34170230	33544831	T T	TTATATAT others(9): Show TTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0027 a0027	a0027c0018 a0027c0018	a0027c0018t0001 a0027c0018t0001	a0027c0018t0001g0048 a0027c0018t0001g0048	1	66	0.0152	16	c.910 others(35): Show c.9100+1190_9100+1205dupTATATATATATATATA	CSMD2	ENSG00000121904.19	transcript	ENST00000373381.9	protein_coding	57/70			chr1	TogoVar
CSMD2_chr1_33508998_34170230	33783431	T T	TTCTCTCT others(9): Show TTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0044 a0001c0044	a0001c0044t0002 a0001c0044t0002	a0001c0044t0002g0026 a0001c0044t0002g0026	1	66	0.0152	16	c.166 others(35): Show c.1663+5153_1663+5168dupGAGAGAGAGAGAGAGA	CSMD2	ENSG00000121904.19	transcript	ENST00000373381.9	protein_coding	12/70			chr1	TogoVar
CSMD2_chr1_33508998_34170230	33862343	C C	CTGTGTGT others(9): Show CTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00673.hp1 NA18998.hp2 HG00673.hp1 NA18998.hp2	a0001 a0009 a0001 a0009	a0001c0042 a0009c0055 a0001c0042 a0009c0055	a0001c0042t0005 a0009c0055t0001 a0001c0042t0005 a0009c0055t0001	a0001c0042t0005g0051 a0009c0055t0001g0049 a0001c0042t0005g0051 a0009c0055t0001g0049	2	66	0.0303	16	c.921 others(35): Show c.921-15363_921-15348dupCACACACACACACACA	CSMD2	ENSG00000121904.19	transcript	ENST00000373381.9	protein_coding	5/70			chr1	TogoVar
CSMD2_chr1_33508998_34170230	33975486	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0029 a0003c0003t0005g0029	1	66	0.0152	16	c.518 others(35): Show c.518-39548_518-39533dupGTGTGTGTGTGTGTGT	CSMD2	ENSG00000121904.19	transcript	ENST00000373381.9	protein_coding	3/70			chr1	TogoVar
CSMD2_chr1_33508998_34170230	33975486	T T	TATACACA others(9): Show TATACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0040 a0001c0040	a0001c0040t0001 a0001c0040t0001	a0001c0040t0001g0010 a0001c0040t0001g0010	1	66	0.0152	16	c.518 others(35): Show c.518-39533_518-39532insGTGTGTGTGTGTGTAT	CSMD2	ENSG00000121904.19	transcript	ENST00000373381.9	protein_coding	3/70			chr1	TogoVar
CSMD2_chr1_33508998_34170230	34059718	G G	GTGAATGA others(9): Show GTGAATGAATGAACGAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02886.hp1 HG02965.hp2 others(3): Show HG01243.hp2 HG02886.hp1 HG02965.hp2 HG03017.hp1 NA18906.hp1 NA18998.hp1	a0001 a0005 a0010 others(2): Show a0001 a0005 a0010 a0018 a0021	a0001c0040 a0001c0045 a0005c0020 others(3): Show a0001c0040 a0001c0045 a0005c0020 a0010c0056 a0018c0029 a0021c0038	a0001c0040t0001 a0001c0045t0013 a0005c0020t0006 others(3): Show a0001c0040t0001 a0001c0045t0013 a0005c0020t0006 a0010c0056t0001 a0018c0029t0007 a0021c0038t0002	a0001c0040t0001g0010 a0001c0045t0013g0027 a0005c0020t0006g0046 others(3): Show a0001c0040t0001g0010 a0001c0045t0013g0027 a0005c0020t0006g0046 a0010c0056t0001g0047 a0018c0029t0007g0025 a0021c0038t0002g0007	6	66	0.0909	16	c.405 others(35): Show c.405-27013_405-27012insTTCGTTCATTCATTCA	CSMD2	ENSG00000121904.19	transcript	ENST00000373381.9	protein_coding	2/70			chr1	TogoVar
CSMD2_chr1_33508998_34170230	34059718	G G	GTGAATGA others(9): Show GTGAATGAATGAATGAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG01109.hp1 others(2): Show HG00438.hp1 HG00438.hp2 HG01109.hp1 HG03453.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0011 a0022	a0001c0047 a0002c0006 a0003c0035 others(2): Show a0001c0047 a0002c0006 a0003c0035 a0011c0039 a0022c0019	a0001c0047t0001 a0002c0006t0001 a0003c0035t0006 others(2): Show a0001c0047t0001 a0002c0006t0001 a0003c0035t0006 a0011c0039t0014 a0022c0019t0011	a0001c0047t0001g0031 a0002c0006t0001g0008 a0003c0035t0006g0006 others(2): Show a0001c0047t0001g0031 a0002c0006t0001g0008 a0003c0035t0006g0006 a0011c0039t0014g0014 a0022c0019t0011g0017	5	66	0.0758	16	c.405 others(35): Show c.405-27028_405-27013dupTTCATTCATTCATTCA	CSMD2	ENSG00000121904.19	transcript	ENST00000373381.9	protein_coding	2/70			chr1	TogoVar
CSMD2_chr1_33508998_34170230	34080921	G G	GGAAAGAA others(9): Show GGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02080.hp2 HG02922.hp1 others(2): Show HG01243.hp2 HG02080.hp2 HG02922.hp1 HG03453.hp2 HG06807.hp2	a0001 a0007 a0020 others(2): Show a0001 a0007 a0020 a0021 a0025	a0001c0026 a0007c0024 a0020c0054 others(2): Show a0001c0026 a0007c0024 a0020c0054 a0021c0038 a0025c0011	a0001c0026t0003 a0007c0024t0002 a0020c0054t0008 others(2): Show a0001c0026t0003 a0007c0024t0002 a0020c0054t0008 a0021c0038t0002 a0025c0011t0001	a0001c0026t0003g0035 a0007c0024t0002g0057 a0020c0054t0008g0030 others(2): Show a0001c0026t0003g0035 a0007c0024t0002g0057 a0020c0054t0008g0030 a0021c0038t0002g0007 a0025c0011t0001g0004	5	66	0.0758	16	c.404 others(33): Show c.404+8040_404+8055dupTTTCTTTCTTTCTTTC	CSMD2	ENSG00000121904.19	transcript	ENST00000373381.9	protein_coding	2/70			chr1	TogoVar
CSMD2_chr1_33508998_34170230	34169596	T T	TGAGAGAG others(9): Show TGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01978.hp1 NA18998.hp1 others(1): Show HG01109.hp2 HG01978.hp1 NA18998.hp1 NA18998.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0001c0042 a0001c0046 others(1): Show a0001c0001 a0001c0042 a0001c0046 a0010c0056	a0001c0001t0005 a0001c0042t0005 a0001c0046t0002 others(1): Show a0001c0001t0005 a0001c0042t0005 a0001c0046t0002 a0010c0056t0001	a0001c0001t0005g0055 a0001c0042t0005g0051 a0001c0046t0002g0050 others(1): Show a0001c0001t0005g0055 a0001c0042t0005g0051 a0001c0046t0002g0050 a0010c0056t0001g0047	4	66	0.0606	16	c.-45 others(27): Show c.-4515_-4500dupTCTCTCTCTCTCTCTC	CSMD2	ENSG00000121904.19	transcript	ENST00000373381.9	protein_coding		4367		chr1	TogoVar
CSMD3_chr8_112217928_113441939	112458209	T T	TCACACAC others(9): Show TCACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01081.hp2 HG01175.hp2 others(6): Show HG00438.hp1 HG01081.hp2 HG01175.hp2 HG01257.hp1 HG02895.hp1 HG02922.hp1 HG02976.hp1 HG03516.hp2 NA18944.hp1	a0001 a0002 a0015 a0001 a0002 a0015	a0001c0001 a0001c0024 a0002c0010 others(2): Show a0001c0001 a0001c0024 a0002c0010 a0002c0033 a0015c0031	a0001c0001t0002 a0001c0001t0004 a0001c0024t0002 others(3): Show a0001c0001t0002 a0001c0001t0004 a0001c0024t0002 a0002c0010t0002 a0002c0033t0002 a0015c0031t0002	a0001c0001t0002g0014 a0001c0001t0002g0022 a0001c0001t0002g0025 others(6): Show a0001c0001t0002g0014 a0001c0001t0002g0022 a0001c0001t0002g0025 a0001c0001t0002g0068 a0001c0001t0004g0002 a0001c0024t0002g0024 a0002c0010t0002g0070 a0002c0033t0002g0029 a0015c0031t0002g0049	9	80	0.1125	16	c.539 others(37): Show c.5395+14381_5395+14382insTGTGTGTGTGTGTGTG	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	32/70			chr8	TogoVar
CSMD3_chr8_112217928_113441939	112458209	T T	TCTCACAC others(9): Show TCTCACACACACACACA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0006 a0002c0003t0002g0006	1	80	0.0125	16	c.539 others(37): Show c.5395+14381_5395+14382insTGTGTGTGTGTGTGAG	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	32/70			chr8	TogoVar
CSMD3_chr8_112217928_113441939	112741794	A A	AAGATAGA others(9): Show AAGATAGATAGATAGAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02257.hp2 HG02922.hp1 others(4): Show HG02055.hp1 HG02257.hp2 HG02922.hp1 HG03041.hp2 HG03139.hp1 HG03139.hp2 NA20300.hp2	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0006 a0011	a0001c0001 a0001c0023 a0002c0010 others(3): Show a0001c0001 a0001c0023 a0002c0010 a0005c0013 a0006c0008 a0011c0035	a0001c0001t0004 a0001c0023t0001 a0002c0010t0002 others(3): Show a0001c0001t0004 a0001c0023t0001 a0002c0010t0002 a0005c0013t0001 a0006c0008t0005 a0011c0035t0001	a0001c0001t0004g0007 a0001c0001t0004g0042 a0001c0023t0001g0056 others(4): Show a0001c0001t0004g0007 a0001c0001t0004g0042 a0001c0023t0001g0056 a0002c0010t0002g0070 a0005c0013t0001g0039 a0006c0008t0005g0004 a0011c0035t0001g0003	7	80	0.0875	16	c.197 others(37): Show c.1973-51760_1973-51745dupATCTATCTATCTATCT	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	13/70			chr8	TogoVar
CSMD3_chr8_112217928_113441939	112783412	A A	AGGAGGGA others(9): Show AGGAGGGAGGGAGGGAG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02717.hp1 HG03041.hp2 HG02055.hp1 HG02717.hp1 HG03041.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0012 a0005c0013 a0001c0001 a0005c0012 a0005c0013	a0001c0001t0004 a0005c0012t0001 a0005c0013t0001 a0001c0001t0004 a0005c0012t0001 a0005c0013t0001	a0001c0001t0004g0007 a0005c0012t0001g0038 a0005c0013t0001g0039 a0001c0001t0004g0007 a0005c0012t0001g0038 a0005c0013t0001g0039	3	80	0.0375	16	c.197 others(37): Show c.1972+16749_1972+16750insCTCCCTCCCTCCCTCC	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	13/70			chr8	TogoVar
CSMD3_chr8_112217928_113441939	112827164	A A	AATATATA others(9): Show AATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0003 a0003	a0003c0020 a0003c0020	a0003c0020t0001 a0003c0020t0001	a0003c0020t0001g0080 a0003c0020t0001g0080	1	80	0.0125	16	c.185 others(35): Show c.1859+2506_1859+2521dupATATATATATATATAT	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	12/70			chr8	TogoVar
CSMD3_chr8_112217928_113441939	112984994	T T	TGATAGAT others(9): Show TGATAGATAGATAGATA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0026 a0001c0015t0001g0026	1	80	0.0125	16	c.103 others(35): Show c.1031-8862_1031-8847dupTATCTATCTATCTATC	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	6/70			chr8	TogoVar
CSMD3_chr8_112217928_113441939	113153130	A A	AGAAGGAA others(9): Show AGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01109.hp2 HG03041.hp2 others(1): Show HG00673.hp1 HG01109.hp2 HG03041.hp2 NA19043.hp1	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0006 a0004c0004 a0005c0013 a0001c0006 a0004c0004 a0005c0013	a0001c0006t0003 a0001c0006t0004 a0004c0004t0009 others(1): Show a0001c0006t0003 a0001c0006t0004 a0004c0004t0009 a0005c0013t0001	a0001c0006t0003g0074 a0001c0006t0004g0060 a0004c0004t0009g0032 others(1): Show a0001c0006t0003g0074 a0001c0006t0004g0060 a0004c0004t0009g0032 a0005c0013t0001g0039	4	80	0.0500	16	c.709 others(35): Show c.709+20576_709+20591dupCTTCCTTCCTTCCTTC	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	4/70			chr8	TogoVar
CSMD3_chr8_112217928_113441939	113195791	T T	TTATATAT others(9): Show TTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0075 a0003c0002t0001g0075	1	80	0.0125	16	c.515 others(35): Show c.515-21891_515-21876dupTATATATATATATATA	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	3/70			chr8	TogoVar
CSMD3_chr8_112217928_113441939	113195814	T T	TATATATA others(9): Show TATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0005 a0001c0019t0005	a0001c0019t0005g0065 a0001c0019t0005g0065	1	80	0.0125	16	c.515 others(35): Show c.515-21899_515-21898insGTATATATATATATAT	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	3/70			chr8	TogoVar
CSMD3_chr8_112217928_113441939	113318786	A A	ATGTGTGT others(9): Show ATGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03139.hp2 HG03516.hp2 others(1): Show HG02055.hp1 HG03139.hp2 HG03516.hp2 NA19030.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0011c0035 a0001c0001 a0011c0035	a0001c0001t0003 a0001c0001t0004 a0011c0035t0001 a0001c0001t0003 a0001c0001t0004 a0011c0035t0001	a0001c0001t0003g0010 a0001c0001t0004g0002 a0001c0001t0004g0007 others(1): Show a0001c0001t0003g0010 a0001c0001t0004g0002 a0001c0001t0004g0007 a0011c0035t0001g0003	4	80	0.0500	16	c.179 others(33): Show c.179-4009_179-3994dupCACACACACACACACA	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	1/70			chr8	TogoVar
CSMD3_chr8_112217928_113441939	113329204	A A	AAAATAAA others(9): Show AAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01175.hp1 HG01257.hp1 others(6): Show HG00741.hp1 HG01175.hp1 HG01257.hp1 HG02257.hp2 HG02895.hp1 HG04115.hp2 NA18944.hp1 NA19030.hp2 NA19240.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0021 a0002c0005 others(2): Show a0001c0001 a0001c0021 a0002c0005 a0002c0033 a0006c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0021t0004 a0002c0005t0001 a0002c0033t0002 a0006c0008t0005	a0001c0001t0001g0046 a0001c0001t0002g0014 a0001c0001t0002g0025 others(6): Show a0001c0001t0001g0046 a0001c0001t0002g0014 a0001c0001t0002g0025 a0001c0001t0003g0010 a0001c0001t0003g0044 a0001c0021t0004g0037 a0002c0005t0001g0027 a0002c0033t0002g0029 a0006c0008t0005g0004	9	80	0.1125	16	c.179 others(35): Show c.179-14427_179-14412dupATTTATTTATTTATTT	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	1/70			chr8	TogoVar
CSMD3_chr8_112217928_113441939	113329233	A A	AAATAAAT others(9): Show AAATAAATAAATAAATG	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0009 a0002c0003t0006g0009	1	80	0.0125	16	c.179 others(35): Show c.179-14441_179-14440insCATTTATTTATTTATT	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	1/70			chr8	TogoVar
CSMD3_chr8_112217928_113441939	113378762	A A	AGTGTGTG others(9): Show AGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02055.hp2 HG02922.hp2 others(1): Show HG01109.hp1 HG02055.hp2 HG02922.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0002c0032 a0001c0001 a0002c0003 a0002c0032	a0001c0001t0007 a0002c0003t0002 a0002c0003t0006 others(1): Show a0001c0001t0007 a0002c0003t0002 a0002c0003t0006 a0002c0032t0001	a0001c0001t0007g0045 a0002c0003t0002g0051 a0002c0003t0006g0061 others(1): Show a0001c0001t0007g0045 a0002c0003t0002g0051 a0002c0003t0006g0061 a0002c0032t0001g0079	4	80	0.0500	16	c.178 others(35): Show c.178+57899_178+57914dupACACACACACACACAC	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	1/70			chr8	TogoVar
CSMD3_chr8_112217928_113441939	113399106	T T	TATATATA others(9): Show TATATATACACACACAC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0007 a0001c0001t0004g0007	1	80	0.0125	16	c.178 others(35): Show c.178+37570_178+37571insGTGTGTGTGTATATAT	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	1/70			chr8	TogoVar
CSMD3_chr8_112217928_113441939	113410900	T T	TGAAAGAA others(9): Show TGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02280.hp2 HG02559.hp2 others(5): Show HG00741.hp1 HG02280.hp2 HG02559.hp2 HG02717.hp1 HG03041.hp2 HG03490.hp2 HG04115.hp1 NA18990.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0007	a0001c0001 a0001c0016 a0002c0010 others(5): Show a0001c0001 a0001c0016 a0002c0010 a0003c0002 a0003c0020 a0005c0012 a0005c0013 a0007c0009	a0001c0001t0001 a0001c0016t0001 a0002c0010t0006 others(5): Show a0001c0001t0001 a0001c0016t0001 a0002c0010t0006 a0003c0002t0001 a0003c0020t0001 a0005c0012t0001 a0005c0013t0001 a0007c0009t0001	a0001c0001t0001g0046 a0001c0016t0001g0073 a0002c0010t0006g0064 others(5): Show a0001c0001t0001g0046 a0001c0016t0001g0073 a0002c0010t0006g0064 a0003c0002t0001g0066 a0003c0020t0001g0080 a0005c0012t0001g0038 a0005c0013t0001g0039 a0007c0009t0001g0048	8	80	0.1000	16	c.178 others(35): Show c.178+25761_178+25776dupTTTCTTTCTTTCTTTC	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	1/70			chr8	TogoVar
CSNK1A1_chr5_149487982_149556439	149490985	G G	GTATATAT others(9): Show GTATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	390	0.0026	16	c.58 others(27): Show c.5867_*5868insTATATATATATATATA	CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding		1996		chr5	TogoVar
CSNK1A1_chr5_149487982_149556439	149542622	A A	ATATATAC others(9): Show ATATATACATGTATGTG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01884.hp1 others(3): Show HG01167.hp1 HG01169.hp2 HG01884.hp1 HG02622.hp2 HG03130.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0055 a0001c0001t0002 a0001c0001t0055	a0001c0001t0002g0331 a0001c0001t0002g0364 a0001c0001t0002g0368 others(3): Show a0001c0001t0002g0331 a0001c0001t0002g0364 a0001c0001t0002g0368 a0001c0001t0002g0373 a0001c0001t0002g0374 a0001c0001t0055g0341	6	390	0.0154	16	c.230 others(33): Show c.230+7452_230+7453insCACATACATGTATATA	CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9			chr5	TogoVar
CSNK1A1_chr5_149487982_149556439	149544735	C C	CTATATAT others(9): Show CTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02922.hp2 NA18951.hp1 others(7): Show HG00423.hp2 HG02922.hp2 NA18951.hp1 NA18965.hp1 NA18998.hp1 NA19060.hp1 NA19063.hp2 NA19074.hp1 NA19086.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0053 others(1): Show a0001c0001t0002 a0001c0001t0011 a0001c0001t0053 a0001c0001t0054	a0001c0001t0002g0344 a0001c0001t0002g0345 a0001c0001t0002g0348 others(7): Show a0001c0001t0002g0344 a0001c0001t0002g0345 a0001c0001t0002g0348 a0001c0001t0002g0349 a0001c0001t0002g0350 a0001c0001t0002g0351 a0001c0001t0002g0385 a0001c0001t0011g0346 a0001c0001t0053g0352 a0001c0001t0054g0347	10	390	0.0256	16	c.230 others(33): Show c.230+5339_230+5340insTATATATATATATATA	CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9			chr5	TogoVar
CSNK1A1_chr5_149487982_149556439	149544737	T T	TTATATAT others(9): Show TTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02145.hp2 NA18941.hp2 NA18962.hp2 others(4): Show HG02145.hp2 NA18941.hp2 NA18962.hp2 NA18981.hp1 NA18983.hp1 NA18985.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 others(2): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0015 a0001c0001t0023	a0001c0001t0003g0136 a0001c0001t0005g0294 a0001c0001t0005g0296 others(4): Show a0001c0001t0003g0136 a0001c0001t0005g0294 a0001c0001t0005g0296 a0001c0001t0005g0297 a0001c0001t0006g0184 a0001c0001t0015g0005 a0001c0001t0023g0295	7	390	0.0180	16	c.230 others(33): Show c.230+5322_230+5337dupTATATATATATATATA	CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9			chr5	TogoVar
CSNK1A1_chr5_149487982_149556439	149544758	T T	TATATATA others(9): Show TATATATATATATACAC	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	390	0.0026	16	c.230 others(33): Show c.230+5316_230+5317insGTGTATATATATATAT	CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9			chr5	TogoVar
CSNK1A1_chr5_149487982_149556439	149556366	G G	GTATTTAT others(9): Show GTATTTATTTATTTATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp2 HG03041.hp1 HG02970.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0016 a0001c0001t0009 a0001c0001t0016	a0001c0001t0009g0236 a0001c0001t0016g0323 a0001c0001t0009g0236 a0001c0001t0016g0323	2	390	0.0051	16	c.-54 others(27): Show c.-5418_-5403dupAATAAATAAATAAATA	CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding		4928		chr5	TogoVar
CSNK1E_chr22_38285691_38322433	38317394	T T	TGCCCGCC others(9): Show TGCCCGCCCGCCCGCCC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0108 a0001c0001t0108	a0001c0001t0108g0317 a0001c0001t0108g0317	1	412	0.0024	16	c.-26 others(25): Show c.-263_-248dupGGGCGGGCGGGCGGGC	CSNK1E	ENSG00000213923.13	transcript	ENST00000396832.6	protein_coding	1/11	3238		chr22	TogoVar
CSNK1G1_chr15_64160525_64361173	64229902	A A	ATTTTTTT others(9): Show ATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	176	0.0057	16	c.293 others(35): Show c.293-13205_293-13190dupAAAAAAAAAAAAAAAA	CSNK1G1	ENSG00000169118.18	transcript	ENST00000303052.13	protein_coding	4/11			chr15	TogoVar
CSNK1G1_chr15_64160525_64361173	64229939	T T	TTTTTTTT others(9): Show TTTTTTTTTTTTTTTTA	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0053 a0001c0002t0001g0053	1	176	0.0057	16	c.293 others(35): Show c.293-13227_293-13226insTAAAAAAAAAAAAAAA	CSNK1G1	ENSG00000169118.18	transcript	ENST00000303052.13	protein_coding	4/11			chr15	TogoVar
CSNK1G1_chr15_64160525_64361173	64238510	A A	AATATATA others(9): Show AATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0144 a0001c0001t0013g0144	1	176	0.0057	16	c.292 others(35): Show c.292+13001_292+13002insATATATATATATATAT	CSNK1G1	ENSG00000169118.18	transcript	ENST00000303052.13	protein_coding	4/11			chr15	TogoVar
CSNK1G1_chr15_64160525_64361173	64343208	A A	AACACACA others(9): Show AACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG02572.hp2 HG03453.hp1 others(3): Show HG01257.hp2 HG02572.hp2 HG03453.hp1 HG03516.hp1 NA20300.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0019 a0001c0001t0024 others(1): Show a0001c0001t0001 a0001c0001t0019 a0001c0001t0024 a0001c0002t0001	a0001c0001t0001g0048 a0001c0001t0001g0064 a0001c0001t0019g0123 others(3): Show a0001c0001t0001g0048 a0001c0001t0001g0064 a0001c0001t0019g0123 a0001c0001t0024g0047 a0001c0002t0001g0014 a0001c0002t0001g0022	6	176	0.0341	16	c.-22 others(37): Show c.-225+12764_-225+12779dupGTGTGTGTGTGTGTGT	CSNK1G1	ENSG00000169118.18	transcript	ENST00000303052.13	protein_coding	1/11			chr15	TogoVar
CSNK1G2_chr19_1936172_1986338	1939438	G G	GTTTTTTT others(9): Show GTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0256 a0001c0001t0005g0256	1	382	0.0026	16	c.-22 others(27): Show c.-2246_-2245insTTTTTTTTTTTTTTTT	CSNK1G2	ENSG00000133275.16	transcript	ENST00000255641.13	protein_coding		1733		chr19	TogoVar
CSNK1G2_chr19_1936172_1986338	1946265	C C	CATTTATT others(9): Show CATTTATTTATTTATTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG01515.hp2 others(16): Show HG00140.hp1 HG00280.hp2 HG01515.hp2 HG01934.hp2 HG02257.hp2 HG03710.hp2 HG04199.hp2 NA18948.hp2 NA18966.hp1 NA18983.hp2 NA18990.hp2 NA19003.hp1 NA19030.hp1 NA19056.hp1 NA19060.hp2 NA19068.hp1 NA19070.hp2 NA19080.hp1 NA19083.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0018 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0018 a0001c0002t0002 a0002c0003t0003	a0001c0001t0001g0007 a0001c0001t0001g0074 a0001c0001t0001g0076 others(14): Show a0001c0001t0001g0007 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0275 a0001c0001t0001g0277 a0001c0001t0001g0281 a0001c0001t0018g0282 a0001c0002t0002g0015 a0001c0002t0002g0026 a0001c0002t0002g0030 a0001c0002t0002g0047 a0001c0002t0002g0267 a0002c0003t0003g0006 a0002c0003t0003g0156 a0002c0003t0003g0271 a0002c0003t0003g0276	19	382	0.0497	16	c.-26 others(35): Show c.-266+4847_-266+4848insATTTATTTATTTATTT	CSNK1G2	ENSG00000133275.16	transcript	ENST00000255641.13	protein_coding	1/11			chr19	TogoVar
CSNK1G2_chr19_1936172_1986338	1946289	T T	TATTTATT others(9): Show TATTTATTATTTATTTA	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	382	0.0026	16	c.-26 others(35): Show c.-266+4871_-266+4872insATTTATTATTTATTTA	CSNK1G2	ENSG00000133275.16	transcript	ENST00000255641.13	protein_coding	1/11			chr19	TogoVar
CSNK1G3_chr5_123507177_123622049	123542849	A A	AGTGTGTG others(9): Show AGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0156 a0001c0001t0003g0156	1	294	0.0034	16	c.-24 others(35): Show c.-247-2545_-247-2530dupGTGTGTGTGTGTGTGT	CSNK1G3	ENSG00000151292.19	transcript	ENST00000696905.1	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr5	TogoVar
CSNK2A1_chr20_467498_548790	485097	A A	AATATATA others(9): Show AATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0063 a0002c0003t0002g0063	1	316	0.0032	16	c.106 others(35): Show c.1061-1022_1061-1021insATATATATATATATAT	CSNK2A1	ENSG00000101266.19	transcript	ENST00000217244.9	protein_coding	13/13			chr20	TogoVar
CSNK2A1_chr20_467498_548790	485101	A A	AATATATA others(9): Show AATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	316	0.0032	16	c.106 others(35): Show c.1061-1026_1061-1025insATATATATATATATAT	CSNK2A1	ENSG00000101266.19	transcript	ENST00000217244.9	protein_coding	13/13			chr20	TogoVar
CSNK2A1_chr20_467498_548790	485103	A A	AATATATA others(9): Show AATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0095 a0001c0001t0095	a0001c0001t0095g0253 a0001c0001t0095g0253	1	316	0.0032	16	c.106 others(35): Show c.1061-1028_1061-1027insATATATATATATATAT	CSNK2A1	ENSG00000101266.19	transcript	ENST00000217244.9	protein_coding	13/13			chr20	TogoVar
CSNK2A1_chr20_467498_548790	523858	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0312 a0001c0001t0035g0312	1	316	0.0032	16	c.-11 others(35): Show c.-110+4059_-110+4074dupTTTTTTTTTTTTTTTT	CSNK2A1	ENSG00000101266.19	transcript	ENST00000217244.9	protein_coding	2/13			chr20	TogoVar
CSNK2A1_chr20_467498_548790	527001	C C	CAGACAGA others(9): Show CAGACAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	316	0.0032	16	c.-11 others(33): Show c.-110+931_-110+932insCTCTCTCTCTCTGTCT	CSNK2A1	ENSG00000101266.19	transcript	ENST00000217244.9	protein_coding	2/13			chr20	TogoVar
CSNK2A1_chr20_467498_548790	527001	C C	CAGAGAGA others(9): Show CAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA19000.hp2 NA18747.hp1 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0043 a0001c0001t0003g0188 a0001c0001t0003g0043 a0001c0001t0003g0188	2	316	0.0063	16	c.-11 others(33): Show c.-110+916_-110+931dupCTCTCTCTCTCTCTCT	CSNK2A1	ENSG00000101266.19	transcript	ENST00000217244.9	protein_coding	2/13			chr20	TogoVar
CSNK2A2_chr16_58152907_58203106	58155748	G G	GGTGTGTG others(9): Show GGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0267 a0001c0001t0001g0267	1	400	0.0025	16	c.26 others(27): Show c.2622_*2623insACACACACACACACAC	CSNK2A2	ENSG00000070770.10	transcript	ENST00000262506.8	protein_coding		2158		chr16	TogoVar
CSNK2A2_chr16_58152907_58203106	58161570	C C	CACAGACA others(9): Show CACAGACACACACACAG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02723.hp2 HG02622.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0261 a0001c0001t0001g0262	2	400	0.0050	16	c.17 others(33): Show c.17+2483_*17+2484insCTGTGTGTGTGTCTGT	CSNK2A2	ENSG00000070770.10	transcript	ENST00000262506.8	protein_coding	11/11			chr16	TogoVar
CSNK2A2_chr16_58152907_58203106	58171958	C C	CATATATA others(9): Show CATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02083.hp2 NA18522.hp2 HG02083.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0222 a0001c0001t0002g0297 a0001c0001t0001g0222 a0001c0001t0002g0297	2	400	0.0050	16	c.429 others(33): Show c.429+2477_429+2492dupATATATATATATATAT	CSNK2A2	ENSG00000070770.10	transcript	ENST00000262506.8	protein_coding	5/11			chr16	TogoVar
CSNK2A2_chr16_58152907_58203106	58171979	A A	ATATATAT others(9): Show ATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02647.hp2 NA18954.hp2 others(1): Show HG02071.hp2 HG02647.hp2 NA18954.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0144 a0001c0001t0002g0302 a0001c0001t0002g0307 others(1): Show a0001c0001t0001g0144 a0001c0001t0002g0302 a0001c0001t0002g0307 a0001c0001t0002g0332	4	400	0.0100	16	c.429 others(33): Show c.429+2471_429+2472insAATATATATATATATA	CSNK2A2	ENSG00000070770.10	transcript	ENST00000262506.8	protein_coding	5/11			chr16	TogoVar

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