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	3439281	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01255.hp1 HG00423.hp1 HG01255.hp1	a0002 a0025 a0002 a0025	a0002c0031 a0025c0096 a0002c0031 a0025c0096	a0002c0031t0015 a0025c0096t0067 a0002c0031t0015 a0025c0096t0067	a0002c0031t0015g0001 a0025c0096t0067g0116 a0002c0031t0015g0001 a0025c0096t0067g0116	2	126	0.0159	26	c.156 others(47): Show c.1561+29405_1561+29430dupTATATATATATATATATATATATA TA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	12/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3520019	C C	CATATACA others(19): Show CATATACATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0078 a0001c0019t0078	a0001c0019t0078g0105 a0001c0019t0078g0105	1	126	0.0079	26	c.134 others(47): Show c.1345-26294_1345-26293insATATATATATATATATATATGTAT AT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	10/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3520020	C C	CTATATAT others(19): Show CTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03516.hp1 HG02055.hp1 HG03516.hp1	a0003 a0006 a0003 a0006	a0003c0014 a0006c0083 a0003c0014 a0006c0083	a0003c0014t0055 a0006c0083t0004 a0003c0014t0055 a0006c0083t0004	a0003c0014t0055g0056 a0006c0083t0004g0006 a0003c0014t0055g0056 a0006c0083t0004g0006	2	126	0.0159	26	c.134 others(47): Show c.1345-26295_1345-26294insTATATATATATATATATATATATA TA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	10/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3520039	T T	TATATATA others(19): Show TATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0114 a0001c0114	a0001c0114t0003 a0001c0114t0003	a0001c0114t0003g0119 a0001c0114t0003g0119	1	126	0.0079	26	c.134 others(47): Show c.1345-26314_1345-26313insGTGTGTATATATATATATATATAT AT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	10/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3556391	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01074.hp2 HG00735.hp2 HG01074.hp2	a0001 a0004 a0001 a0004	a0001c0073 a0004c0056 a0001c0073 a0004c0056	a0001c0073t0007 a0004c0056t0062 a0001c0073t0007 a0004c0056t0062	a0001c0073t0007g0108 a0004c0056t0062g0072 a0001c0073t0007g0108 a0004c0056t0062g0072	2	126	0.0159	26	c.134 others(47): Show c.1344+18553_1344+18554insTATATATATATATATATATATATA TA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	10/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3562417	A A	AACACACA others(19): Show AACACACATGCACACACACGTGCACAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00438.hp2 HG01074.hp1 others(9): Show HG00099.hp2 HG00438.hp2 HG01074.hp1 HG01934.hp2 HG02074.hp2 HG02683.hp1 HG03017.hp1 HG06807.hp2 NA18971.hp2 NA18979.hp2 NA18982.hp2 NA18984.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0023 a0032	a0001c0002 a0001c0005 a0001c0021 others(8): Show a0001c0002 a0001c0005 a0001c0021 a0001c0059 a0001c0068 a0001c0080 a0001c0081 a0002c0091 a0004c0099 a0023c0095 a0032c0011	a0001c0002t0061 a0001c0005t0002 a0001c0005t0007 others(9): Show a0001c0002t0061 a0001c0005t0002 a0001c0005t0007 a0001c0021t0005 a0001c0059t0001 a0001c0068t0015 a0001c0080t0040 a0001c0081t0037 a0002c0091t0002 a0004c0099t0014 a0023c0095t0002 a0032c0011t0065	a0001c0002t0061g0069 a0001c0005t0002g0111 a0001c0005t0007g0070 others(9): Show a0001c0002t0061g0069 a0001c0005t0002g0111 a0001c0005t0007g0070 a0001c0021t0005g0012 a0001c0059t0001g0036 a0001c0068t0015g0049 a0001c0080t0040g0025 a0001c0081t0037g0030 a0002c0091t0002g0114 a0004c0099t0014g0020 a0023c0095t0002g0124 a0032c0011t0065g0101	12	126	0.0952	26	c.134 others(47): Show c.1344+12502_1344+12527dupATGTGCACGTGTGTGTGCATGTGT GT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	10/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3699882	G G	GCTGCATC others(19): Show GCTGCATCCCTGGGTTATATCCCATAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02055.hp2 HG02280.hp2 others(9): Show HG01243.hp1 HG02055.hp2 HG02280.hp2 HG02451.hp1 HG02572.hp1 HG02572.hp2 HG02622.hp2 HG02723.hp1 HG03225.hp1 HG03540.hp2 HG03579.hp1 NA20129.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0005 a0006 a0007 a0009 a0010 a0014 a0024 a0033	a0001c0017 a0002c0051 a0003c0034 others(9): Show a0001c0017 a0002c0051 a0003c0034 a0003c0057 a0005c0064 a0006c0116 a0007c0029 a0009c0113 a0010c0112 a0014c0010 a0024c0038 a0033c0042	a0001c0017t0005 a0002c0051t0006 a0003c0034t0030 others(9): Show a0001c0017t0005 a0002c0051t0006 a0003c0034t0030 a0003c0057t0080 a0005c0064t0051 a0006c0116t0004 a0007c0029t0011 a0009c0113t0011 a0010c0112t0081 a0014c0010t0070 a0024c0038t0075 a0033c0042t0004	a0001c0017t0005g0003 a0002c0051t0006g0081 a0003c0034t0030g0038 others(9): Show a0001c0017t0005g0003 a0002c0051t0006g0081 a0003c0034t0030g0038 a0003c0057t0080g0075 a0005c0064t0051g0078 a0006c0116t0004g0039 a0007c0029t0011g0054 a0009c0113t0011g0043 a0010c0112t0081g0090 a0014c0010t0070g0084 a0024c0038t0075g0067 a0033c0042t0004g0004	12	126	0.0952	26	c.100 others(45): Show c.1009+8531_1009+8532insTTATGGGATATAACCCAGGGATGCAG	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	7/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3709680	G G	GTTTTTTT others(19): Show GTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0002 a0002	a0002c0070 a0002c0070	a0002c0070t0046 a0002c0070t0046	a0002c0070t0046g0092 a0002c0070t0046g0092	1	126	0.0079	26	c.932 others(43): Show c.932-1215_932-1190dupAAAAAAAAAAAAAAAAAAAAAAAAAA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	6/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3776807	G G	GATATATA others(19): Show GATATATAGATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0084 a0002c0084	a0002c0084t0018 a0002c0084t0018	a0002c0084t0018g0087 a0002c0084t0018g0087	1	126	0.0079	26	c.819 others(45): Show c.819-22766_819-22765insATATATATATATATATATCTATATAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3776807	G G	GATATATA others(19): Show GATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03516.hp2 HG03579.hp2 others(2): Show HG02886.hp2 HG03516.hp2 HG03579.hp2 NA19030.hp1 NA19043.hp1	a0001 a0002 a0017 others(1): Show a0001 a0002 a0017 a0020	a0001c0019 a0001c0093 a0002c0078 others(2): Show a0001c0019 a0001c0093 a0002c0078 a0017c0106 a0020c0024	a0001c0019t0078 a0001c0093t0009 a0002c0078t0044 others(2): Show a0001c0019t0078 a0001c0093t0009 a0002c0078t0044 a0017c0106t0012 a0020c0024t0077	a0001c0019t0078g0105 a0001c0093t0009g0007 a0002c0078t0044g0064 others(2): Show a0001c0019t0078g0105 a0001c0093t0009g0007 a0002c0078t0044g0064 a0017c0106t0012g0042 a0020c0024t0077g0104	5	126	0.0397	26	c.819 others(45): Show c.819-22766_819-22765insATATATATATATATATATATATATAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3893339	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01071.hp1 HG01074.hp2 others(15): Show HG00438.hp1 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01243.hp1 HG01261.hp2 HG02572.hp1 HG02683.hp1 HG02683.hp2 HG03139.hp2 HG03516.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 NA18979.hp2 NA19043.hp1 NA19074.hp2 NA19090.hp1	a0001 a0002 a0004 others(6): Show a0001 a0002 a0004 a0005 a0016 a0017 a0019 a0033 a0034	a0001c0001 a0001c0021 a0001c0033 others(15): Show a0001c0001 a0001c0021 a0001c0033 a0001c0080 a0001c0090 a0001c0093 a0001c0094 a0001c0102 a0002c0012 a0002c0037 a0002c0041 a0004c0056 a0005c0064 a0016c0063 a0017c0106 a0019c0018 a0033c0042 a0034c0055	a0001c0001t0002 a0001c0021t0005 a0001c0033t0003 others(15): Show a0001c0001t0002 a0001c0021t0005 a0001c0033t0003 a0001c0080t0040 a0001c0090t0001 a0001c0093t0009 a0001c0094t0002 a0001c0102t0005 a0002c0012t0017 a0002c0037t0009 a0002c0041t0027 a0004c0056t0062 a0005c0064t0051 a0016c0063t0010 a0017c0106t0012 a0019c0018t0058 a0033c0042t0004 a0034c0055t0034	a0001c0001t0002g0102 a0001c0021t0005g0012 a0001c0033t0003g0059 others(15): Show a0001c0001t0002g0102 a0001c0021t0005g0012 a0001c0033t0003g0059 a0001c0080t0040g0025 a0001c0090t0001g0027 a0001c0093t0009g0007 a0001c0094t0002g0110 a0001c0102t0005g0034 a0002c0012t0017g0088 a0002c0037t0009g0046 a0002c0041t0027g0018 a0004c0056t0062g0072 a0005c0064t0051g0078 a0016c0063t0010g0045 a0017c0106t0012g0042 a0019c0018t0058g0068 a0033c0042t0004g0004 a0034c0055t0034g0047	18	126	0.1429	26	c.818 others(47): Show c.818+104563_818+104564insTATATATATATATATATATATATA TA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3893339	T T	TTATATAT others(19): Show TTATATATGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0002 a0002	a0002c0089 a0002c0089	a0002c0089t0001 a0002c0089t0001	a0002c0089t0001g0037 a0002c0089t0001g0037	1	126	0.0079	26	c.818 others(47): Show c.818+104563_818+104564insTATATATATATATATATACATATA TA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4077307	A A	ATATATAT others(19): Show ATATATATATGTATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0020 a0001c0004t0020	a0001c0004t0020g0086 a0001c0004t0020g0086	1	126	0.0079	26	c.416 others(45): Show c.416-45209_416-45208insCACATATATATATATACATATATATA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4312436	T T	TGCGTATA others(19): Show TGCGTATATATATACGTATATATATGC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp1 HG03516.hp1 HG01884.hp2 HG02055.hp1 HG03516.hp1	a0002 a0003 a0006 a0002 a0003 a0006	a0002c0022 a0003c0014 a0006c0083 a0002c0022 a0003c0014 a0006c0083	a0002c0022t0036 a0003c0014t0055 a0006c0083t0004 a0002c0022t0036 a0003c0014t0055 a0006c0083t0004	a0002c0022t0036g0048 a0003c0014t0055g0056 a0006c0083t0004g0006 a0002c0022t0036g0048 a0003c0014t0055g0056 a0006c0083t0004g0006	3	126	0.0238	26	c.415 others(47): Show c.415+107491_415+107516dupGCATATATATACGTATATATATAC GC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4330208	A A	ACACCCGT others(19): Show ACACCCGTCAGATCCACCTGTCAGATC	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG03209.hp2 HG01071.hp1 HG03209.hp2	a0002 a0002	a0002c0041 a0002c0060 a0002c0041 a0002c0060	a0002c0041t0027 a0002c0060t0006 a0002c0041t0027 a0002c0060t0006	a0002c0041t0027g0018 a0002c0060t0006g0094 a0002c0041t0027g0018 a0002c0060t0006g0094	2	126	0.0159	26	c.415 others(45): Show c.415+89719_415+89744dupGATCTGACAGGTGGATCTGACGGGTG	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4441095	G G	GTTTTTTT others(19): Show GTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0125 a0001c0001t0002g0125	1	126	0.0079	26	c.303 others(45): Show c.303-21031_303-21030insAAAAAAAAAAAAAAAAAAAAAAAAAA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	2/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4446753	G G	GTGTCTGT others(19): Show GTGTCTGTGTGTGTGTGTGTGTGTGTC	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0003 a0003	a0003c0014 a0003c0014	a0003c0014t0055 a0003c0014t0055	a0003c0014t0055g0056 a0003c0014t0055g0056	1	126	0.0079	26	c.303 others(45): Show c.303-26689_303-26688insGACACACACACACACACACACAGACA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	2/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4446755	C C	CTGTGTGT others(19): Show CTGTGTGTGTGTGTGTGTGTGTCTGTG	intron_variant intron_variant	MODIFIER	HG06807.hp2 NA18906.hp1 HG06807.hp2 NA18906.hp1	a0001 a0002 a0001 a0002	a0001c0068 a0002c0032 a0001c0068 a0002c0032	a0001c0068t0015 a0002c0032t0050 a0001c0068t0015 a0002c0032t0050	a0001c0068t0015g0049 a0002c0032t0050g0061 a0001c0068t0015g0049 a0002c0032t0050g0061	2	126	0.0159	26	c.303 others(45): Show c.303-26691_303-26690insCACAGACACACACACACACACACACA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	2/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4637644	A A	ATTTTTTT others(19): Show ATTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0111 a0001c0005t0002g0111	1	126	0.0079	26	c.86- others(38): Show c.86-112_86-87dupAAAAAAAAAAAAAAAAAAAAAAAAAA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	1/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4717310	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp2 NA18982.hp1 HG02559.hp2 NA18982.hp1	a0001 a0004 a0001 a0004	a0001c0043 a0004c0086 a0001c0043 a0004c0086	a0001c0043t0031 a0004c0086t0002 a0001c0043t0031 a0004c0086t0002	a0001c0043t0031g0044 a0004c0086t0002g0118 a0001c0043t0031g0044 a0004c0086t0002g0118	2	126	0.0159	26	c.86- others(43): Show c.86-79753_86-79752insATATATATATATATATATATATATAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	1/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4764882	A A	AAAACAAA others(19): Show AAAACAAAAAAAAAAACAAAACAAAAC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02615.hp1 HG06807.hp1 others(3): Show HG02572.hp1 HG02615.hp1 HG06807.hp1 NA18522.hp2 NA19240.hp1 NA20129.hp2	a0001 a0002 a0026 others(1): Show a0001 a0002 a0026 a0033	a0001c0085 a0001c0111 a0002c0035 others(3): Show a0001c0085 a0001c0111 a0002c0035 a0002c0072 a0026c0082 a0033c0042	a0001c0085t0020 a0001c0111t0045 a0002c0035t0047 others(3): Show a0001c0085t0020 a0001c0111t0045 a0002c0035t0047 a0002c0072t0003 a0026c0082t0052 a0033c0042t0004	a0001c0085t0020g0060 a0001c0111t0045g0063 a0002c0035t0047g0076 others(3): Show a0001c0085t0020g0060 a0001c0111t0045g0063 a0002c0035t0047g0076 a0002c0072t0003g0066 a0026c0082t0052g0097 a0033c0042t0004g0004	6	126	0.0476	26	c.86- others(45): Show c.86-127325_86-127324insGTTTTGTTTTGTTTTTTTTTTTGTTT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	1/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4764892	A A	AAAAAACA others(19): Show AAAAAACAAAACAAAACAAAAAACAAC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0011 a0011	a0011c0110 a0011c0110	a0011c0110t0074 a0011c0110t0074	a0011c0110t0074g0082 a0011c0110t0074g0082	1	126	0.0079	26	c.86- others(45): Show c.86-127335_86-127334insGTTGTTTTTTGTTTTGTTTTGTTTTT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	1/69			chr8	TogoVar
CSMD2_chr1_33508998_34170230	33567478	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0012 a0012	a0012c0028 a0012c0028	a0012c0028t0007 a0012c0028t0007	a0012c0028t0007g0041 a0012c0028t0007g0041	1	66	0.0152	26	c.838 others(43): Show c.8380+114_8380+115insATATATATATATATATATATATATAT	CSMD2	ENSG00000121904.19	transcript	ENST00000373381.9	protein_coding	53/70			chr1	TogoVar
CSMD2_chr1_33508998_34170230	34169596	T T	TGAGAGAG others(19): Show TGAGAGAGAGAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0004 a0002c0006t0004	a0002c0006t0004g0052 a0002c0006t0004g0052	1	66	0.0152	26	c.-45 others(37): Show c.-4525_-4500dupTCTCTCTCTCTCTCTCTCTCTCTCTC	CSMD2	ENSG00000121904.19	transcript	ENST00000373381.9	protein_coding		4367		chr1	TogoVar
CSMD3_chr8_112217928_113441939	112405234	T T	TATATGTA others(19): Show TATATGTATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0008 a0008	a0008c0014 a0008c0014	a0008c0014t0005 a0008c0014t0005	a0008c0014t0005g0040 a0008c0014t0005g0040	1	80	0.0125	26	c.580 others(45): Show c.5809+1289_5809+1290insGTATATATATATATATATATACATAT	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	35/70			chr8	TogoVar
CSMD3_chr8_112217928_113441939	112410606	A A	ATATATAT others(19): Show ATATATATATATGTATATATATATGTG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0011 a0011	a0011c0035 a0011c0035	a0011c0035t0001 a0011c0035t0001	a0011c0035t0001g0003 a0011c0035t0001g0003	1	80	0.0125	26	c.539 others(45): Show c.5396-1575_5396-1574insCACATATATATATACATATATATATA	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	32/70			chr8	TogoVar
CSMD3_chr8_112217928_113441939	112410624	A A	ATATGTGT others(19): Show ATATGTGTATATATATGTATATATATG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02258.hp1 HG02280.hp2 others(10): Show HG02055.hp1 HG02258.hp1 HG02280.hp2 HG02559.hp2 HG02970.hp2 HG02976.hp2 HG03139.hp1 HG03225.hp2 HG03471.hp2 NA18944.hp2 NA19030.hp1 NA19043.hp1 NA19240.hp1	a0001 a0002 a0007 others(2): Show a0001 a0002 a0007 a0010 a0017	a0001c0001 a0001c0006 a0002c0003 others(4): Show a0001c0001 a0001c0006 a0002c0003 a0002c0010 a0007c0009 a0010c0025 a0017c0029	a0001c0001t0004 a0001c0006t0004 a0002c0003t0006 others(4): Show a0001c0001t0004 a0001c0006t0004 a0002c0003t0006 a0002c0010t0006 a0007c0009t0001 a0010c0025t0003 a0017c0029t0004	a0001c0001t0004g0007 a0001c0001t0004g0015 a0001c0001t0004g0042 others(10): Show a0001c0001t0004g0007 a0001c0001t0004g0015 a0001c0001t0004g0042 a0001c0001t0004g0058 a0001c0001t0004g0067 a0001c0006t0004g0060 a0002c0003t0006g0009 a0002c0003t0006g0061 a0002c0010t0006g0064 a0007c0009t0001g0048 a0007c0009t0001g0069 a0010c0025t0003g0052 a0017c0029t0004g0063	13	80	0.1625	26	c.539 others(45): Show c.5396-1593_5396-1592insCATATATATACATATATATACACATA	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	32/70			chr8	TogoVar
CSNK1A1_chr5_149487982_149556439	149544735	C C	CTATATAT others(19): Show CTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02809.hp2 NA18980.hp2 NA19062.hp1 others(2): Show HG02809.hp2 NA18980.hp2 NA19062.hp1 NA19080.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0022 a0001c0001t0002 a0001c0001t0022	a0001c0001t0002g0379 a0001c0001t0002g0380 a0001c0001t0002g0381 others(2): Show a0001c0001t0002g0379 a0001c0001t0002g0380 a0001c0001t0002g0381 a0001c0001t0002g0382 a0001c0001t0022g0378	5	390	0.0128	26	c.230 others(43): Show c.230+5339_230+5340insTATATATATATATATATATATATATA	CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9			chr5	TogoVar
CSNK1A1_chr5_149487982_149556439	149544737	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02129.hp1 HG02257.hp1 others(2): Show HG02080.hp2 HG02129.hp1 HG02257.hp1 HG02622.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0003 a0001c0001t0008	a0001c0001t0003g0156 a0001c0001t0003g0157 a0001c0001t0003g0158 others(2): Show a0001c0001t0003g0156 a0001c0001t0003g0157 a0001c0001t0003g0158 a0001c0001t0003g0227 a0001c0001t0008g0129	5	390	0.0128	26	c.230 others(43): Show c.230+5312_230+5337dupTATATATATATATATATATATATATA	CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9			chr5	TogoVar
CSNK1A1_chr5_149487982_149556439	149544758	T T	TATATATA others(19): Show TATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02818.hp1 HG02258.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0103 a0001c0001t0001g0021 a0001c0001t0001g0103	2	390	0.0051	26	c.230 others(43): Show c.230+5316_230+5317insGTGTGTATATATATATATATATATAT	CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9			chr5	TogoVar
CSNK1G1_chr15_64160525_64361173	64238518	A A	AAAAAATA others(19): Show AAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0114 a0001c0001t0007g0114	1	176	0.0057	26	c.292 others(45): Show c.292+12993_292+12994insATATATATATATATATATATATTTTT	CSNK1G1	ENSG00000169118.18	transcript	ENST00000303052.13	protein_coding	4/11			chr15	TogoVar
CSNK1G1_chr15_64160525_64361173	64238518	A A	AAAATATA others(19): Show AAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0169 a0001c0001t0005g0169	1	176	0.0057	26	c.292 others(45): Show c.292+12993_292+12994insATATATATATATATATATATATATTT	CSNK1G1	ENSG00000169118.18	transcript	ENST00000303052.13	protein_coding	4/11			chr15	TogoVar
CSNK1G1_chr15_64160525_64361173	64277683	C C	CAATATTG others(19): Show CAATATTGATATATTTAATAATATATT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0073 a0001c0001t0002g0073	1	176	0.0057	26	c.182 others(45): Show c.182-18468_182-18443dupAATATATTATTAAATATATCAATATT	CSNK1G1	ENSG00000169118.18	transcript	ENST00000303052.13	protein_coding	2/11			chr15	TogoVar
CSNK1G1_chr15_64160525_64361173	64286320	G G	GATATTGT others(19): Show GATATTGTTAACATGTTATTGTTAACA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02257.hp1 HG02809.hp1 others(5): Show HG02055.hp1 HG02257.hp1 HG02809.hp1 HG02818.hp1 HG02965.hp2 HG03453.hp2 HG03579.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0017 a0001c0001t0018 others(2): Show a0001c0001t0009 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0031	a0001c0001t0009g0002 a0001c0001t0009g0003 a0001c0001t0009g0004 others(5): Show a0001c0001t0009g0002 a0001c0001t0009g0003 a0001c0001t0009g0004 a0001c0001t0009g0005 a0001c0001t0017g0135 a0001c0001t0018g0136 a0001c0001t0020g0006 a0001c0001t0031g0124	8	176	0.0455	26	c.181 others(45): Show c.181+13973_181+13998dupTGTTAACAATAACATGTTAACAATAT	CSNK1G1	ENSG00000169118.18	transcript	ENST00000303052.13	protein_coding	2/11			chr15	TogoVar
CSNK1G1_chr15_64160525_64361173	64286361	T T	TTATTGTT others(19): Show TTATTGTTAACAATATTGTTAACAATA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01261.hp1 HG01934.hp1 others(1): Show HG00323.hp2 HG01261.hp1 HG01934.hp1 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0110 a0001c0001t0007g0111 a0001c0001t0007g0112 others(1): Show a0001c0001t0007g0110 a0001c0001t0007g0111 a0001c0001t0007g0112 a0001c0001t0007g0113	4	176	0.0227	26	c.181 others(45): Show c.181+13932_181+13957dupTATTGTTAACAATATTGTTAACAATA	CSNK1G1	ENSG00000169118.18	transcript	ENST00000303052.13	protein_coding	2/11			chr15	TogoVar
CSNK1G1_chr15_64160525_64361173	64343208	A A	AACACACA others(19): Show AACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00733.hp2 HG01109.hp1 others(15): Show HG00323.hp1 HG00733.hp2 HG01109.hp1 HG02055.hp1 HG02080.hp2 HG02451.hp1 HG02922.hp2 HG03195.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03579.hp2 HG03831.hp2 NA18939.hp1 NA18962.hp1 NA19043.hp2 NA20129.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 others(6): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 a0001c0001t0013 a0001c0001t0023 a0001c0001t0029 a0001c0001t0031 a0001c0002t0001 a0001c0003t0001	a0001c0001t0001g0026 a0001c0001t0001g0031 a0001c0001t0001g0045 others(15): Show a0001c0001t0001g0026 a0001c0001t0001g0031 a0001c0001t0001g0045 a0001c0001t0005g0171 a0001c0001t0005g0174 a0001c0001t0009g0002 a0001c0001t0009g0003 a0001c0001t0013g0143 a0001c0001t0023g0121 a0001c0001t0029g0127 a0001c0001t0031g0124 a0001c0002t0001g0001 a0001c0002t0001g0030 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0102 a0001c0002t0001g0104 a0001c0003t0001g0094	18	176	0.1023	26	c.-22 others(47): Show c.-225+12754_-225+12779dupGTGTGTGTGTGTGTGTGTGTGTGT GT	CSNK1G1	ENSG00000169118.18	transcript	ENST00000303052.13	protein_coding	1/11			chr15	TogoVar
CSNK2A1_chr20_467498_548790	485105	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0314 a0001c0001t0001g0314	1	316	0.0032	26	c.106 others(45): Show c.1061-1030_1061-1029insATATATATATATATATATATATATAT	CSNK2A1	ENSG00000101266.19	transcript	ENST00000217244.9	protein_coding	13/13			chr20	TogoVar
CSNK2A1_chr20_467498_548790	485107	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0251 a0001c0001t0024g0251	1	316	0.0032	26	c.106 others(45): Show c.1061-1032_1061-1031insATATATATATATATATATATATATAT	CSNK2A1	ENSG00000101266.19	transcript	ENST00000217244.9	protein_coding	13/13			chr20	TogoVar
CSNK2A1_chr20_467498_548790	485109	A A	AAAAAAAA others(19): Show AAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0256 a0001c0001t0023g0256	1	316	0.0032	26	c.106 others(45): Show c.1061-1034_1061-1033insATATATATATATATATATATTTTTTT	CSNK2A1	ENSG00000101266.19	transcript	ENST00000217244.9	protein_coding	13/13			chr20	TogoVar
CSNK2A1_chr20_467498_548790	485109	A A	AAAAAATA others(19): Show AAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0148 a0001c0001t0005g0148	1	316	0.0032	26	c.106 others(45): Show c.1061-1034_1061-1033insATATATATATATATATATATATTTTT	CSNK2A1	ENSG00000101266.19	transcript	ENST00000217244.9	protein_coding	13/13			chr20	TogoVar
CSNK2A2_chr16_58152907_58203106	58171979	A A	ATATATAT others(19): Show ATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	400	0.0025	26	c.429 others(43): Show c.429+2471_429+2472insAATATATATATATATATATATATATA	CSNK2A2	ENSG00000070770.10	transcript	ENST00000262506.8	protein_coding	5/11			chr16	TogoVar
CSNKA2IP_chr3_88333456_88472594	88418463	T T	TGTGTGTG others(19): Show TGTGTGTGCGCGCGCGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0002 a0006c0008t0002	a0006c0008t0002g0371 a0006c0008t0002g0371	1	386	0.0026	26	c.-27 others(47): Show c.-270-46624_-270-46623insTGTGTGCGCGCGCGCGCGCGCGCG CG	CSNKA2IP	ENSG00000283434.2	transcript	ENST00000637986.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar
CSNKA2IP_chr3_88333456_88472594	88449874	T T	TAGAGAGA others(19): Show TAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0002 a0005c0007t0002	a0005c0007t0002g0335 a0005c0007t0002g0335	1	386	0.0026	26	c.-27 others(47): Show c.-270-15194_-270-15193insAGAGAGAGAGAGAGAGAGAGAGAG AG	CSNKA2IP	ENSG00000283434.2	transcript	ENST00000637986.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar
CSPP1_chr8_67059392_67201614	67083548	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0006 a0002c0004t0006	a0002c0004t0006g0030 a0002c0004t0006g0030	1	158	0.0063	26	c.200 others(43): Show c.200-2458_200-2457insAAAAAAAAAAAAAATATATATATATA	CSPP1	ENSG00000104218.16	transcript	ENST00000678616.1	protein_coding	3/30		INFO_REALIGN_3_PRIME	chr8	TogoVar
CSPP1_chr8_67059392_67201614	67159957	C C	CTTTTCTT others(19): Show CTTTTCTTTTCTTTTCTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG03453.hp1 NA19003.hp2 HG01261.hp1 HG03453.hp1 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0009t0001 a0001c0001t0001 a0001c0009t0001	a0001c0001t0001g0092 a0001c0001t0001g0148 a0001c0009t0001g0008 a0001c0001t0001g0092 a0001c0001t0001g0148 a0001c0009t0001g0008	3	158	0.0190	26	c.253 others(43): Show c.2538+823_2538+824insTCTTTTCTTTTCTTTTCTTTTCTTTT	CSPP1	ENSG00000104218.16	transcript	ENST00000678616.1	protein_coding	21/30		INFO_REALIGN_3_PRIME	chr8	TogoVar
CSRNP3_chr2_165464698_165694407	165466966	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp1 HG02723.hp1 HG01099.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0048 a0001c0002t0005 a0001c0001t0048 a0001c0002t0005	a0001c0001t0048g0081 a0001c0002t0005g0001 a0001c0001t0048g0081 a0001c0002t0005g0001	2	246	0.0081	26	c.-30 others(37): Show c.-3057_-3056insATATATATATATATATATATATATAT	CSRNP3	ENSG00000178662.16	transcript	ENST00000651982.1	protein_coding		2731		chr2	TogoVar
CSRNP3_chr2_165464698_165694407	165477483	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0072 a0001c0001t0009g0072	1	246	0.0041	26	c.-28 others(45): Show c.-283+7758_-283+7759insTATATATATATATATATATATATATA	CSRNP3	ENSG00000178662.16	transcript	ENST00000651982.1	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
CST8_chr20_23486117_23501010	23490234	T T	TAATTATA others(19): Show TAATTATATATATATAATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	440	0.0023	26	c.-12 others(37): Show c.-1252_-1251insAATTATATATATATAATATATATATA	CST8	ENSG00000125815.9	transcript	ENST00000246012.2	protein_coding		882		chr20	TogoVar
CSTF1_chr20_56387645_56411362	56404812	A A	ATTTTTTT others(19): Show ATTTTTTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00140.hp2 HG01257.hp2 HG02486.hp1 others(2): Show HG00140.hp2 HG01257.hp2 HG02486.hp1 HG03492.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0070 a0001c0001t0014 a0001c0001t0070	a0001c0001t0014g0001 a0001c0001t0014g0002 a0001c0001t0014g0006 others(1): Show a0001c0001t0014g0001 a0001c0001t0014g0002 a0001c0001t0014g0006 a0001c0001t0070g0001	5	422	0.0119	26	c.10 others(37): Show c.1086_*1111dupTTTTTTTTTTTTTTTTTTTTTTTTTT	CSTF1	ENSG00000101138.12	transcript	ENST00000217109.9	protein_coding	6/6	1112	INFO_REALIGN_3_PRIME	chr20	TogoVar
CT83_chrX_116456686_116467976	116467040	G G	GGTGTGTG others(19): Show GGTGTGTGTGTGTGTGCATGTATCGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02280.hp1 HG02976.hp1 HG02257.hp2 HG02280.hp1 HG02976.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0002 a0002c0002t0001g0009 a0001c0001t0001g0002 a0002c0002t0001g0009	3	340	0.0088	26	c.-41 others(37): Show c.-4185_-4184insACCGATACATGCACACACACACACAC	CT83	ENSG00000204019.5	transcript	ENST00000371894.5	protein_coding		4065		chrX	TogoVar

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