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
CSF3_chr17_40010440_40022813	40013343	A A	AGTGCCTG others(9): Show AGTGCCTGACATATAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	434	0.0023	16	c.-21 others(27): Show c.-2132_-2131insGTGCCTGACATATAAG	CSF3	ENSG00000108342.13	transcript	ENST00000394149.8	protein_coding		2096		chr17	TogoVar
CSGALNACT1_chr8_19399161_19762277	19485759	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02647.hp2 HG02809.hp1 others(6): Show HG02145.hp1 HG02647.hp2 HG02809.hp1 HG02886.hp2 HG03540.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 NA20300.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0005 a0001c0002 a0003c0005	a0001c0002t0004 a0001c0002t0005 a0001c0002t0007 others(3): Show a0001c0002t0004 a0001c0002t0005 a0001c0002t0007 a0001c0002t0008 a0001c0002t0012 a0003c0005t0004	a0001c0002t0004g0144 a0001c0002t0004g0153 a0001c0002t0005g0080 others(6): Show a0001c0002t0004g0144 a0001c0002t0004g0153 a0001c0002t0005g0080 a0001c0002t0005g0172 a0001c0002t0007g0189 a0001c0002t0008g0237 a0001c0002t0012g0036 a0003c0005t0004g0094 a0003c0005t0004g0184	9	238	0.0378	16	c.634 others(35): Show c.634+19426_634+19441dupAAAAAAAAAAAAAAAA	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	3/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19513434	C C	CTATATAT others(9): Show CTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG04199.hp1 NA18959.hp1 HG04199.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0065 a0001c0001t0001g0024 a0001c0001t0001g0065	2	238	0.0084	16	c.-29 others(35): Show c.-296-7305_-296-7304insTATATATATATATATA	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19513436	C C	CTATATAT others(9): Show CTATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0205 a0001c0001t0002g0205	1	238	0.0042	16	c.-29 others(35): Show c.-296-7322_-296-7307dupTATATATATATATATA	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19513436	C C	CTCTATAT others(9): Show CTCTATATATATATATA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG02155.hp2 HG01257.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0213 a0001c0001t0002g0217 a0001c0001t0002g0213 a0001c0001t0002g0217	2	238	0.0084	16	c.-29 others(35): Show c.-296-7307_-296-7306insTATATATATATATAGA	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19513436	C C	CTCTCTAT others(9): Show CTCTCTATATATATATA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02523.hp1 HG01243.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0154 a0001c0001t0001g0012 a0001c0001t0001g0154	2	238	0.0084	16	c.-29 others(35): Show c.-296-7307_-296-7306insTATATATATATAGAGA	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19513436	C C	CTCTCTCT others(9): Show CTCTCTCTCTATATATA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG03669.hp1 HG04115.hp1 HG00738.hp2 HG03669.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0204 a0001c0002t0002g0067 a0001c0002t0002g0236 a0001c0001t0002g0204 a0001c0002t0002g0067 a0001c0002t0002g0236	3	238	0.0126	16	c.-29 others(35): Show c.-296-7307_-296-7306insTATATATAGAGAGAGA	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19513436	C C	CTCTCTCT others(9): Show CTCTCTCTCTCTATATA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp1 HG03041.hp1 HG00408.hp2 HG00438.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0137 a0001c0001t0001g0212 a0001c0002t0002g0103 a0001c0001t0001g0137 a0001c0001t0001g0212 a0001c0002t0002g0103	3	238	0.0126	16	c.-29 others(35): Show c.-296-7307_-296-7306insTATATAGAGAGAGAGA	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19513436	C C	CTCTCTCT others(9): Show CTCTCTCTCTCTCTCTA	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0118 a0001c0001t0006g0118	1	238	0.0042	16	c.-29 others(35): Show c.-296-7307_-296-7306insTAGAGAGAGAGAGAGA	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19513454	A A	ATATTATA others(9): Show ATATTATATATATATAT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0132 a0001c0002t0002g0132	1	238	0.0042	16	c.-29 others(35): Show c.-296-7325_-296-7324insATATATATATATAATA	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19514475	C C	CTATATAT others(9): Show CTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00673.hp2 HG01975.hp1 others(12): Show HG00408.hp1 HG00673.hp2 HG01975.hp1 HG02109.hp1 HG02559.hp1 HG02965.hp2 HG03492.hp1 HG03516.hp2 HG03688.hp2 HG04115.hp1 HG04199.hp2 HG04228.hp2 NA18959.hp2 NA19056.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 others(3): Show a0001c0001 a0001c0002 a0002c0003 a0002c0004 a0002c0008 a0002c0012	a0001c0001t0019 a0001c0002t0002 a0001c0002t0003 others(8): Show a0001c0001t0019 a0001c0002t0002 a0001c0002t0003 a0001c0002t0016 a0002c0003t0003 a0002c0003t0005 a0002c0003t0008 a0002c0003t0015 a0002c0004t0012 a0002c0008t0003 a0002c0012t0042	a0001c0001t0019g0082 a0001c0002t0002g0084 a0001c0002t0002g0236 others(12): Show a0001c0001t0019g0082 a0001c0002t0002g0084 a0001c0002t0002g0236 a0001c0002t0003g0098 a0001c0002t0016g0049 a0002c0003t0003g0109 a0002c0003t0003g0203 a0002c0003t0003g0228 a0002c0003t0005g0113 a0002c0003t0008g0087 a0002c0003t0015g0019 a0002c0003t0015g0042 a0002c0004t0012g0200 a0002c0008t0003g0156 a0002c0012t0042g0091	15	238	0.0630	16	c.-29 others(35): Show c.-296-8361_-296-8346dupTATATATATATATATA	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19514484	T T	TATATATA others(9): Show TATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0187 a0001c0001t0005g0187	1	238	0.0042	16	c.-29 others(35): Show c.-296-8355_-296-8354insGTATATATATATATAT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19541553	A A	ATTTTTTT others(9): Show ATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0007 a0002c0003t0007	a0002c0003t0007g0128 a0002c0003t0007g0128	1	238	0.0042	16	c.-29 others(37): Show c.-296-35439_-296-35424dupAAAAAAAAAAAAAAAA	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19542200	A A	AACACACA others(9): Show AACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03540.hp2 HG06807.hp2 HG02717.hp2 HG03540.hp2 HG06807.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0012 a0001c0002 a0002c0012	a0001c0002t0043 a0001c0002t0044 a0002c0012t0021 a0001c0002t0043 a0001c0002t0044 a0002c0012t0021	a0001c0002t0043g0097 a0001c0002t0044g0186 a0002c0012t0021g0174 a0001c0002t0043g0097 a0001c0002t0044g0186 a0002c0012t0021g0174	3	238	0.0126	16	c.-29 others(37): Show c.-296-36086_-296-36071dupGTGTGTGTGTGTGTGT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19553620	C C	CATATATA others(9): Show CATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03225.hp1 HG02965.hp2 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0016 a0001c0002t0006 a0001c0002t0016	a0001c0002t0006g0047 a0001c0002t0016g0049 a0001c0002t0006g0047 a0001c0002t0016g0049	2	238	0.0084	16	c.-29 others(37): Show c.-296-47506_-296-47491dupATATATATATATATAT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19590640	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0011 a0002c0003t0011	a0002c0003t0011g0188 a0002c0003t0011g0188	1	238	0.0042	16	c.-29 others(37): Show c.-297+11115_-297+11130dupAAAAAAAAAAAAAAAA	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19599472	A A	AAAAGAAA others(9): Show AAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00642.hp1 HG00673.hp1 others(12): Show HG00597.hp2 HG00642.hp1 HG00673.hp1 HG01069.hp1 HG01934.hp1 HG03139.hp2 HG03486.hp2 HG03688.hp2 HG04204.hp2 NA18953.hp2 NA18993.hp2 NA19030.hp2 NA19054.hp1 NA20129.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0006 others(2): Show a0001c0001 a0001c0002 a0001c0006 a0002c0003 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0002t0004 a0001c0006t0002 a0002c0003t0003 a0002c0003t0005 a0002c0003t0011 a0002c0003t0020 a0002c0004t0013	a0001c0001t0001g0004 a0001c0001t0001g0021 a0001c0001t0001g0083 others(12): Show a0001c0001t0001g0004 a0001c0001t0001g0021 a0001c0001t0001g0083 a0001c0001t0001g0129 a0001c0001t0001g0198 a0001c0001t0002g0146 a0001c0002t0002g0130 a0001c0002t0004g0038 a0001c0006t0002g0136 a0002c0003t0003g0228 a0002c0003t0005g0076 a0002c0003t0005g0185 a0002c0003t0011g0188 a0002c0003t0020g0078 a0002c0004t0013g0124	15	238	0.0630	16	c.-29 others(35): Show c.-297+2283_-297+2298dupCTTTCTTTCTTTCTTT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19630194	C C	CTGTGTGT others(9): Show CTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0023 a0001c0002t0023	a0001c0002t0023g0096 a0001c0002t0023g0096	1	238	0.0042	16	c.-39 others(37): Show c.-391-28345_-391-28330dupCACACACACACACACA	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19649819	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0018 a0002c0003t0005g0018	1	238	0.0042	16	c.-39 others(37): Show c.-391-47970_-391-47955dupTTTTTTTTTTTTTTTT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19655551	C C	CACATATA others(9): Show CACATATATATGCACAT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG06807.hp2 HG02572.hp1 HG06807.hp2	a0002 a0003 a0002 a0003	a0002c0012 a0003c0005 a0002c0012 a0003c0005	a0002c0012t0021 a0003c0005t0027 a0002c0012t0021 a0003c0005t0027	a0002c0012t0021g0174 a0003c0005t0027g0229 a0002c0012t0021g0174 a0003c0005t0027g0229	2	238	0.0084	16	c.-39 others(37): Show c.-391-53687_-391-53686insATGTGCATATATATGT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19666809	A A	AAGAAAGA others(9): Show AAGAAAGAAAGAAAGAG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0218 a0001c0001t0002g0218	1	238	0.0042	16	c.-39 others(37): Show c.-391-64945_-391-64944insCTCTTTCTTTCTTTCT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19666809	A A	AAGAAAGA others(9): Show AAGAAAGAAAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0135 a0001c0006t0002g0135	1	238	0.0042	16	c.-39 others(37): Show c.-391-64945_-391-64944insCTCTCTCTTTCTTTCT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19666943	A A	AAAAGAAA others(9): Show AAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	238	0.0042	16	c.-39 others(37): Show c.-391-65094_-391-65079dupCTTTCTTTCTTTCTTT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19667000	A A	AAAGGAAG others(9): Show AAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG04228.hp1 HG03492.hp2 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0211 a0001c0001t0006g0152 a0001c0001t0001g0211 a0001c0001t0006g0152	2	238	0.0084	16	c.-39 others(37): Show c.-391-65136_-391-65135insCCTTCCTTCCTTCCTT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19667004	A A	AAAGGAAG others(9): Show AAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0063 a0001c0006t0002g0063	1	238	0.0042	16	c.-39 others(37): Show c.-391-65140_-391-65139insCCTTCCTTCCTTCCTT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19667040	G G	GAAGAAAG others(9): Show GAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0122 a0001c0001t0010g0122	1	238	0.0042	16	c.-39 others(37): Show c.-391-65191_-391-65176dupTCTTTCTTTCTTTCTT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19667040	G G	GAAGGAAG others(9): Show GAAGGAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	238	0.0042	16	c.-39 others(37): Show c.-391-65176_-391-65175insTCTTTCTTTCTTCCTT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19667040	G G	GAAGGAAG others(9): Show GAAGGAAGGAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02155.hp1 HG02004.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0193 a0001c0001t0001g0062 a0001c0001t0001g0193	2	238	0.0084	16	c.-39 others(37): Show c.-391-65176_-391-65175insTCTTTCTTCCTTCCTT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSH1_chr17_63889918_63901574	63898144	T T	TTCTTTCT others(9): Show TTCTTTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	428	0.0023	16	c.-16 others(27): Show c.-1634_-1633insGAGAGAGAGAGAAAGA	CSH1	ENSG00000136488.15	transcript	ENST00000316193.13	protein_coding		1571		chr17	TogoVar
CSH1_chr17_63889918_63901574	63898172	C C	CTCTTTCT others(9): Show CTCTTTCTTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0003 a0002c0003t0001g0003	1	428	0.0023	16	c.-16 others(27): Show c.-1662_-1661insAAGAAAGAAAGAAAGA	CSH1	ENSG00000136488.15	transcript	ENST00000316193.13	protein_coding		1599		chr17	TogoVar
CSHL1_chr17_63904608_63916258	63904790	T T	TTTTTCTT others(9): Show TTTTTCTTTTCTTTTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	438	0.0023	16	c.49 others(27): Show c.4920_*4921insTAAAAAGAAAAGAAAA	CSHL1	ENSG00000204414.14	transcript	ENST00000309894.6	protein_coding		4817		chr17	TogoVar
CSK_chr15_74777080_74808197	74786000	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	394	0.0025	16	c.-66 others(33): Show c.-66+3281_-66+3282insTTTTTTTTTTTTTTTT	CSK	ENSG00000103653.17	transcript	ENST00000220003.14	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
CSK_chr15_74777080_74808197	74786013	T T	TTTTTTTT others(9): Show TTTTTTTTTTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02155.hp1 HG02976.hp2 others(5): Show HG02040.hp2 HG02155.hp1 HG02976.hp2 HG03225.hp1 HG03704.hp2 NA18984.hp1 NA19074.hp2 NA19084.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0030 a0001c0002t0001g0050 a0001c0002t0001g0160 others(2): Show a0001c0002t0001g0030 a0001c0002t0001g0050 a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0002t0001g0162	8	394	0.0203	16	c.-66 others(33): Show c.-66+3294_-66+3295insTTTTTTTTGTGTGTGT	CSK	ENSG00000103653.17	transcript	ENST00000220003.14	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
CSMD1_chr8_2930361_4999914	2960939	G G	GATATATA others(9): Show GATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG06807.hp2 NA19030.hp1 others(1): Show HG01074.hp2 HG06807.hp2 NA19030.hp1 NA19074.hp2	a0001 a0004 a0001 a0004	a0001c0019 a0001c0068 a0001c0090 others(1): Show a0001c0019 a0001c0068 a0001c0090 a0004c0056	a0001c0019t0078 a0001c0068t0015 a0001c0090t0001 others(1): Show a0001c0019t0078 a0001c0068t0015 a0001c0090t0001 a0004c0056t0062	a0001c0019t0078g0105 a0001c0068t0015g0049 a0001c0090t0001g0027 others(1): Show a0001c0019t0078g0105 a0001c0068t0015g0049 a0001c0090t0001g0027 a0004c0056t0062g0072	4	126	0.0318	16	c.970 others(33): Show c.9702+186_9702+201dupATATATATATATATAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	62/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	2960961	T T	TATATATA others(9): Show TATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03540.hp2 NA19043.hp1 NA19074.hp1 HG03540.hp2 NA19043.hp1 NA19074.hp1	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0093 a0002c0076 a0009c0113 a0001c0093 a0002c0076 a0009c0113	a0001c0093t0009 a0002c0076t0035 a0009c0113t0011 a0001c0093t0009 a0002c0076t0035 a0009c0113t0011	a0001c0093t0009g0007 a0002c0076t0035g0014 a0009c0113t0011g0043 a0001c0093t0009g0007 a0002c0076t0035g0014 a0009c0113t0011g0043	3	126	0.0238	16	c.970 others(33): Show c.9702+179_9702+180insGTATATATATATATAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	62/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	2994145	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03139.hp1 NA19043.hp2 HG03139.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0050 a0002c0074 a0001c0050 a0002c0074	a0001c0050t0053 a0002c0074t0041 a0001c0050t0053 a0002c0074t0041	a0001c0050t0053g0120 a0002c0074t0041g0031 a0001c0050t0053g0120 a0002c0074t0041g0031	2	126	0.0159	16	c.837 others(35): Show c.8377+3850_8377+3865dupTTTTTTTTTTTTTTTT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	54/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3127898	T T	TGAAGGAA others(9): Show TGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02258.hp1 HG02572.hp1 others(1): Show HG01884.hp1 HG02258.hp1 HG02572.hp1 HG03579.hp1	a0001 a0006 a0033 a0001 a0006 a0033	a0001c0046 a0001c0114 a0006c0116 others(1): Show a0001c0046 a0001c0114 a0006c0116 a0033c0042	a0001c0046t0073 a0001c0114t0003 a0006c0116t0004 others(1): Show a0001c0046t0073 a0001c0114t0003 a0006c0116t0004 a0033c0042t0004	a0001c0046t0073g0091 a0001c0114t0003g0119 a0006c0116t0004g0039 others(1): Show a0001c0046t0073g0091 a0001c0114t0003g0119 a0006c0116t0004g0039 a0033c0042t0004g0004	4	126	0.0318	16	c.624 others(35): Show c.6242-9327_6242-9312dupCTTCCTTCCTTCCTTC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	41/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3155359	A A	ATTTTTTT others(9): Show ATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03579.hp2 HG02055.hp2 HG03579.hp2	a0003 a0020 a0003 a0020	a0003c0057 a0020c0024 a0003c0057 a0020c0024	a0003c0057t0080 a0020c0024t0077 a0003c0057t0080 a0020c0024t0077	a0003c0057t0080g0075 a0020c0024t0077g0104 a0003c0057t0080g0075 a0020c0024t0077g0104	2	126	0.0159	16	c.591 others(35): Show c.5914+2522_5914+2537dupAAAAAAAAAAAAAAAA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	39/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3168631	T T	TCACACAC others(9): Show TCACACACACACACACA	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0002 a0002	a0002c0076 a0002c0076	a0002c0076t0035 a0002c0076t0035	a0002c0076t0035g0014 a0002c0076t0035g0014	1	126	0.0079	16	c.572 others(35): Show c.5726-6370_5726-6355dupTGTGTGTGTGTGTGTG	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	37/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3175483	T T	TCCTGCCT others(9): Show TCCTGCCTGCCTGCCTG	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03669.hp1 HG03017.hp2 HG03669.hp1	a0001 a0036 a0001 a0036	a0001c0006 a0036c0100 a0001c0006 a0036c0100	a0001c0006t0002 a0036c0100t0017 a0001c0006t0002 a0036c0100t0017	a0001c0006t0002g0109 a0036c0100t0017g0121 a0001c0006t0002g0109 a0036c0100t0017g0121	2	126	0.0159	16	c.572 others(35): Show c.5725+5611_5725+5626dupCAGGCAGGCAGGCAGG	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	37/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3175483	T T	TCCTTCCT others(9): Show TCCTTCCTGCCTGCCTG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02055.hp1 HG02074.hp1 others(7): Show HG01243.hp1 HG02055.hp1 HG02074.hp1 HG02486.hp1 HG02615.hp2 HG02683.hp1 HG03130.hp1 HG03710.hp2 HG04228.hp1 NA18979.hp1	a0001 a0002 a0005 others(3): Show a0001 a0002 a0005 a0006 a0022 a0037	a0001c0001 a0001c0004 a0001c0021 others(7): Show a0001c0001 a0001c0004 a0001c0021 a0001c0026 a0001c0079 a0002c0036 a0005c0064 a0006c0083 a0022c0013 a0037c0101	a0001c0001t0002 a0001c0004t0063 a0001c0021t0005 others(7): Show a0001c0001t0002 a0001c0004t0063 a0001c0021t0005 a0001c0026t0006 a0001c0079t0072 a0002c0036t0029 a0005c0064t0051 a0006c0083t0004 a0022c0013t0007 a0037c0101t0008	a0001c0001t0002g0125 a0001c0004t0063g0095 a0001c0021t0005g0012 others(7): Show a0001c0001t0002g0125 a0001c0004t0063g0095 a0001c0021t0005g0012 a0001c0026t0006g0093 a0001c0079t0072g0113 a0002c0036t0029g0009 a0005c0064t0051g0078 a0006c0083t0004g0006 a0022c0013t0007g0112 a0037c0101t0008g0023	10	126	0.0794	16	c.572 others(35): Show c.5725+5626_5725+5627insCAGGCAGGCAGGAAGG	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	37/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3175507	G G	GCCTGCCT others(9): Show GCCTGCCTGCCTGCCTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01071.hp2 HG01123.hp1 others(5): Show HG00438.hp1 HG01071.hp2 HG01123.hp1 HG02055.hp2 HG02129.hp2 HG02258.hp2 HG02886.hp1 NA18983.hp1	a0001 a0003 a0008 a0001 a0003 a0008	a0001c0007 a0001c0039 a0001c0047 others(5): Show a0001c0007 a0001c0039 a0001c0047 a0001c0061 a0001c0094 a0001c0115 a0003c0057 a0008c0008	a0001c0007t0032 a0001c0039t0066 a0001c0047t0014 others(5): Show a0001c0007t0032 a0001c0039t0066 a0001c0047t0014 a0001c0061t0001 a0001c0094t0002 a0001c0115t0042 a0003c0057t0080 a0008c0008t0082	a0001c0007t0032g0033 a0001c0039t0066g0080 a0001c0047t0014g0024 others(5): Show a0001c0007t0032g0033 a0001c0039t0066g0080 a0001c0047t0014g0024 a0001c0061t0001g0021 a0001c0094t0002g0110 a0001c0115t0042g0055 a0003c0057t0080g0075 a0008c0008t0082g0126	8	126	0.0635	16	c.572 others(35): Show c.5725+5602_5725+5603insAAGGCAGGCAGGCAGG	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	37/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3182675	C C	CTGTGTGT others(9): Show CTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0108 a0001c0108	a0001c0108t0054 a0001c0108t0054	a0001c0108t0054g0074 a0001c0108t0054g0074	1	126	0.0079	16	c.562 others(35): Show c.5621-1477_5621-1462dupCACACACACACACACA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	36/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3182841	G G	GGGGTGTG others(9): Show GGGGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01074.hp2 HG03516.hp1 others(4): Show HG00423.hp2 HG01074.hp2 HG03516.hp1 HG03516.hp2 HG03669.hp2 HG06807.hp1 NA19074.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0017	a0001c0001 a0002c0035 a0002c0076 others(4): Show a0001c0001 a0002c0035 a0002c0076 a0002c0089 a0003c0014 a0004c0056 a0017c0106	a0001c0001t0039 a0002c0035t0047 a0002c0076t0035 others(4): Show a0001c0001t0039 a0002c0035t0047 a0002c0076t0035 a0002c0089t0001 a0003c0014t0055 a0004c0056t0062 a0017c0106t0012	a0001c0001t0039g0017 a0002c0035t0047g0076 a0002c0076t0035g0014 others(4): Show a0001c0001t0039g0017 a0002c0035t0047g0076 a0002c0076t0035g0014 a0002c0089t0001g0037 a0003c0014t0055g0056 a0004c0056t0062g0072 a0017c0106t0012g0042	7	126	0.0556	16	c.562 others(35): Show c.5621-1628_5621-1627insACACACACACACACCC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	36/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3182841	G G	GGTGTGTG others(9): Show GGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0028 a0028	a0028c0097 a0028c0097	a0028c0097t0018 a0028c0097t0018	a0028c0097t0018g0089 a0028c0097t0018g0089	1	126	0.0079	16	c.562 others(35): Show c.5621-1643_5621-1628dupACACACACACACACAC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	36/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3220150	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02647.hp2 HG03195.hp2 others(2): Show HG02451.hp2 HG02647.hp2 HG03195.hp2 HG03540.hp2 NA19043.hp2	a0001 a0002 a0009 others(2): Show a0001 a0002 a0009 a0013 a0029	a0001c0050 a0002c0084 a0009c0113 others(2): Show a0001c0050 a0002c0084 a0009c0113 a0013c0027 a0029c0028	a0001c0050t0053 a0002c0084t0018 a0009c0113t0011 others(2): Show a0001c0050t0053 a0002c0084t0018 a0009c0113t0011 a0013c0027t0003 a0029c0028t0024	a0001c0050t0053g0120 a0002c0084t0018g0087 a0009c0113t0011g0043 others(2): Show a0001c0050t0053g0120 a0002c0084t0018g0087 a0009c0113t0011g0043 a0013c0027t0003g0099 a0029c0028t0024g0040	5	126	0.0397	16	c.448 others(33): Show c.4485-709_4485-708insTTTTTTTTTTTTTTTT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	28/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3315437	A A	AGTATGTG others(9): Show AGTATGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0115 a0001c0115	a0001c0115t0042 a0001c0115t0042	a0001c0115t0042g0055 a0001c0115t0042g0055	1	126	0.0079	16	c.363 others(35): Show c.3632-6935_3632-6934insACACACACACACATAC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	23/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3412057	C C	CGTGTATA others(9): Show CGTGTATACGTGTATAT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03579.hp2 NA19043.hp2 others(1): Show HG03225.hp1 HG03579.hp2 NA19043.hp2 NA20129.hp2	a0001 a0020 a0001 a0020	a0001c0017 a0001c0050 a0001c0111 others(1): Show a0001c0017 a0001c0050 a0001c0111 a0020c0024	a0001c0017t0005 a0001c0050t0053 a0001c0111t0045 others(1): Show a0001c0017t0005 a0001c0050t0053 a0001c0111t0045 a0020c0024t0077	a0001c0017t0005g0003 a0001c0050t0053g0120 a0001c0111t0045g0063 others(1): Show a0001c0017t0005g0003 a0001c0050t0053g0120 a0001c0111t0045g0063 a0020c0024t0077g0104	4	126	0.0318	16	c.156 others(35): Show c.1562-2453_1562-2452insATATACACGTATACAC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	12/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3439122	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03225.hp2 HG03130.hp1 HG03225.hp2	a0001 a0001	a0001c0025 a0001c0026 a0001c0025 a0001c0026	a0001c0025t0003 a0001c0026t0006 a0001c0025t0003 a0001c0026t0006	a0001c0025t0003g0077 a0001c0026t0006g0093 a0001c0025t0003g0077 a0001c0026t0006g0093	2	126	0.0159	16	c.156 others(37): Show c.1562-29533_1562-29518dupTTTTTTTTTTTTTTTT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	12/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3439281	G G	GTATATAT others(9): Show GTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0003 a0003	a0003c0058 a0003c0058	a0003c0058t0057 a0003c0058t0057	a0003c0058t0057g0117 a0003c0058t0057g0117	1	126	0.0079	16	c.156 others(37): Show c.1561+29415_1561+29430dupTATATATATATATATA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	12/69			chr8	TogoVar

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