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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ 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	4466444	TATATATA others(9): Show TATATATACTCAATATA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00423.hp1 others(102): Show HG00099.hp1 HG00099.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00735.hp1 HG00735.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01123.hp1 HG01123.hp2 HG01243.hp2 HG01255.hp1 HG01261.hp1 HG01261.hp2 HG01884.hp1 HG01884.hp2 HG01934.hp1 HG01934.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02129.hp1 HG02129.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02723.hp2 HG02886.hp2 HG02922.hp1 HG02965.hp1 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03669.hp1 HG03669.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18971.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp2 NA18995.hp1 NA18995.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19060.hp1 NA19060.hp2 NA19074.hp1 NA19074.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2	a0001 a0002 a0003 others(30): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0014 a0015 a0016 a0017 a0018 a0019 a0021 a0022 a0023 a0025 a0026 a0027 a0028 a0029 a0030 a0032 a0033 a0034 a0035 a0036 a0037 a0039	a0001c0001 a0001c0002 a0001c0003 others(93): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0017 a0001c0019 a0001c0020 a0001c0021 a0001c0025 a0001c0033 a0001c0040 a0001c0043 a0001c0045 a0001c0046 a0001c0047 a0001c0050 a0001c0068 a0001c0071 a0001c0073 a0001c0079 a0001c0080 a0001c0081 a0001c0085 a0001c0090 a0001c0093 a0001c0094 a0001c0102 a0001c0103 a0001c0105 a0001c0108 a0001c0109 a0001c0111 a0001c0114 a0001c0115 a0002c0012 a0002c0015 a0002c0022 a0002c0030 a0002c0031 a0002c0032 a0002c0035 a0002c0036 a0002c0037 a0002c0041 a0002c0048 a0002c0051 a0002c0054 a0002c0060 a0002c0070 a0002c0076 a0002c0078 a0002c0084 a0002c0089 a0002c0091 a0002c0092 a0003c0034 a0003c0057 a0003c0058 a0004c0056 a0004c0086 a0004c0087 a0004c0099 a0005c0065 a0005c0107 a0006c0083 a0007c0029 a0007c0088 a0008c0008 a0009c0113 a0010c0112 a0011c0110 a0014c0010 a0015c0062 a0016c0063 a0017c0106 a0018c0044 a0019c0018 a0021c0016 a0022c0013 a0023c0095 a0025c0096 a0026c0082 a0027c0023 a0028c0097 a0029c0028 a0030c0052 a0032c0011 a0033c0042 a0034c0055 a0035c0098 a0036c0100 a0037c0101 a0039c0009	a0001c0001t0002 a0001c0001t0039 a0001c0002t0002 others(101): Show a0001c0001t0002 a0001c0001t0039 a0001c0002t0002 a0001c0002t0028 a0001c0002t0061 a0001c0003t0008 a0001c0003t0013 a0001c0003t0019 a0001c0004t0063 a0001c0005t0002 a0001c0005t0007 a0001c0006t0002 a0001c0006t0060 a0001c0007t0001 a0001c0007t0032 a0001c0017t0005 a0001c0019t0078 a0001c0020t0016 a0001c0021t0005 a0001c0025t0003 a0001c0033t0003 a0001c0040t0019 a0001c0043t0031 a0001c0045t0012 a0001c0046t0073 a0001c0047t0014 a0001c0050t0053 a0001c0068t0015 a0001c0071t0069 a0001c0073t0007 a0001c0079t0072 a0001c0080t0040 a0001c0081t0037 a0001c0085t0020 a0001c0090t0001 a0001c0093t0009 a0001c0094t0002 a0001c0102t0005 a0001c0103t0033 a0001c0105t0001 a0001c0108t0054 a0001c0109t0038 a0001c0111t0045 a0001c0114t0003 a0001c0115t0042 a0002c0012t0017 a0002c0015t0021 a0002c0022t0036 a0002c0030t0016 a0002c0031t0015 a0002c0032t0050 a0002c0035t0047 a0002c0036t0029 a0002c0037t0009 a0002c0041t0027 a0002c0048t0013 a0002c0051t0006 a0002c0054t0079 a0002c0060t0006 a0002c0070t0046 a0002c0076t0035 a0002c0078t0044 a0002c0084t0018 a0002c0089t0001 a0002c0091t0002 a0002c0092t0001 a0003c0034t0030 a0003c0057t0080 a0003c0058t0057 a0004c0056t0062 a0004c0086t0002 a0004c0087t0001 a0004c0099t0014 a0005c0065t0023 a0005c0107t0068 a0006c0083t0004 a0007c0029t0011 a0007c0088t0076 a0008c0008t0082 a0009c0113t0011 a0010c0112t0081 a0011c0110t0074 a0014c0010t0070 a0015c0062t0056 a0016c0063t0010 a0017c0106t0012 a0018c0044t0064 a0019c0018t0058 a0021c0016t0048 a0022c0013t0007 a0023c0095t0002 a0025c0096t0067 a0026c0082t0052 a0027c0023t0001 a0028c0097t0018 a0029c0028t0024 a0030c0052t0049 a0032c0011t0065 a0033c0042t0004 a0034c0055t0034 a0035c0098t0025 a0036c0100t0017 a0037c0101t0008 a0039c0009t0001	a0001c0001t0002g0102 a0001c0001t0002g0125 a0001c0001t0039g0017 others(102): Show a0001c0001t0002g0102 a0001c0001t0002g0125 a0001c0001t0039g0017 a0001c0002t0002g0083 a0001c0002t0028g0005 a0001c0002t0061g0069 a0001c0003t0008g0053 a0001c0003t0013g0026 a0001c0003t0019g0107 a0001c0004t0063g0095 a0001c0005t0002g0111 a0001c0005t0007g0070 a0001c0006t0002g0109 a0001c0006t0060g0103 a0001c0007t0001g0035 a0001c0007t0032g0033 a0001c0017t0005g0003 a0001c0019t0078g0105 a0001c0020t0016g0065 a0001c0021t0005g0012 a0001c0025t0003g0077 a0001c0033t0003g0059 a0001c0040t0019g0123 a0001c0043t0031g0044 a0001c0045t0012g0010 a0001c0046t0073g0091 a0001c0047t0014g0024 a0001c0050t0053g0120 a0001c0068t0015g0049 a0001c0071t0069g0115 a0001c0073t0007g0108 a0001c0079t0072g0113 a0001c0080t0040g0025 a0001c0081t0037g0030 a0001c0085t0020g0060 a0001c0090t0001g0027 a0001c0093t0009g0007 a0001c0094t0002g0110 a0001c0102t0005g0034 a0001c0103t0033g0028 a0001c0105t0001g0029 a0001c0108t0054g0074 a0001c0109t0038g0013 a0001c0111t0045g0063 a0001c0114t0003g0119 a0001c0115t0042g0055 a0002c0012t0017g0088 a0002c0015t0021g0008 a0002c0022t0036g0048 a0002c0030t0016g0122 a0002c0031t0015g0001 a0002c0032t0050g0061 a0002c0035t0047g0076 a0002c0036t0029g0009 a0002c0037t0009g0046 a0002c0041t0027g0018 a0002c0048t0013g0015 a0002c0051t0006g0081 a0002c0054t0079g0096 a0002c0060t0006g0094 a0002c0070t0046g0092 a0002c0076t0035g0014 a0002c0078t0044g0064 a0002c0084t0018g0087 a0002c0089t0001g0037 a0002c0091t0002g0114 a0002c0092t0001g0011 a0003c0034t0030g0038 a0003c0057t0080g0075 a0003c0058t0057g0117 a0004c0056t0062g0072 a0004c0086t0002g0118 a0004c0087t0001g0022 a0004c0099t0014g0020 a0005c0065t0023g0050 a0005c0107t0068g0073 a0006c0083t0004g0006 a0007c0029t0011g0054 a0007c0088t0076g0057 a0008c0008t0082g0126 a0009c0113t0011g0043 a0010c0112t0081g0090 a0011c0110t0074g0082 a0014c0010t0070g0084 a0015c0062t0056g0062 a0016c0063t0010g0045 a0017c0106t0012g0042 a0018c0044t0064g0085 a0019c0018t0058g0068 a0021c0016t0048g0106 a0022c0013t0007g0112 a0023c0095t0002g0124 a0025c0096t0067g0116 a0026c0082t0052g0097 a0027c0023t0001g0052 a0028c0097t0018g0089 a0029c0028t0024g0040 a0030c0052t0049g0098 a0032c0011t0065g0101 a0033c0042t0004g0004 a0034c0055t0034g0047 a0035c0098t0025g0019 a0036c0100t0017g0121 a0037c0101t0008g0023 a0039c0009t0001g0002	105	126	0.8333	-16	c.303 others(35): Show c.303-46395_303-46380delTATATTGAGTATATAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	2/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4466445	ATATATAC others(9): Show ATATATACTCAATATAT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0002 a0002	a0002c0053 a0002c0053	a0002c0053t0022 a0002c0053t0022	a0002c0053t0022g0041 a0002c0053t0022g0041	1	126	0.0079	-16	c.303 others(35): Show c.303-46396_303-46381delATATATTGAGTATATA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	2/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4484980	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02647.hp1 HG02257.hp1 HG02647.hp1	a0003 a0007 a0003 a0007	a0003c0058 a0007c0088 a0003c0058 a0007c0088	a0003c0058t0057 a0007c0088t0076 a0003c0058t0057 a0007c0088t0076	a0003c0058t0057g0117 a0007c0088t0076g0057 a0003c0058t0057g0117 a0007c0088t0076g0057	2	126	0.0159	-16	c.303 others(35): Show c.303-64931_303-64916delTTTTTTTTTTTTTTTT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	2/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4519742	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02056.hp1 HG02129.hp2 others(10): Show HG01074.hp2 HG02056.hp1 HG02129.hp2 HG03017.hp1 HG03139.hp2 HG03710.hp1 NA18906.hp1 NA18971.hp1 NA18983.hp2 NA18984.hp1 NA18995.hp2 NA19060.hp2 NA19240.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0039	a0001c0002 a0001c0006 a0001c0007 others(9): Show a0001c0002 a0001c0006 a0001c0007 a0001c0033 a0001c0045 a0001c0059 a0001c0105 a0002c0032 a0002c0048 a0002c0077 a0004c0056 a0039c0009	a0001c0002t0002 a0001c0002t0061 a0001c0006t0060 others(10): Show a0001c0002t0002 a0001c0002t0061 a0001c0006t0060 a0001c0007t0032 a0001c0033t0003 a0001c0045t0012 a0001c0059t0001 a0001c0105t0001 a0002c0032t0050 a0002c0048t0013 a0002c0077t0001 a0004c0056t0062 a0039c0009t0001	a0001c0002t0002g0083 a0001c0002t0061g0069 a0001c0006t0060g0103 others(10): Show a0001c0002t0002g0083 a0001c0002t0061g0069 a0001c0006t0060g0103 a0001c0007t0032g0033 a0001c0033t0003g0059 a0001c0045t0012g0010 a0001c0059t0001g0036 a0001c0105t0001g0029 a0002c0032t0050g0061 a0002c0048t0013g0015 a0002c0077t0001g0016 a0004c0056t0062g0072 a0039c0009t0001g0002	13	126	0.1032	-16	c.303 others(35): Show c.303-99693_303-99678delTTTTTTTTTTTTTTTT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	2/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4565749	CATATATA others(9): Show CATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0028 a0028	a0028c0097 a0028c0097	a0028c0097t0018 a0028c0097t0018	a0028c0097t0018g0089 a0028c0097t0018g0089	1	126	0.0079	-16	c.302 others(35): Show c.302+71577_302+71592delATATATATATATATAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	2/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4637644	ATTTTTTT others(9): Show ATTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0028 a0001c0002t0028	a0001c0002t0028g0005 a0001c0002t0028g0005	1	126	0.0079	-16	c.86- others(28): Show c.86-102_86-87delAAAAAAAAAAAAAAAA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	1/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4682955	CATATATA others(9): Show CATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0002 a0002	a0002c0030 a0002c0030	a0002c0030t0016 a0002c0030t0016	a0002c0030t0016g0122 a0002c0030t0016g0122	1	126	0.0079	-16	c.86- others(33): Show c.86-45413_86-45398delATATATATATATATAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	1/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4707886	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0002 a0002	a0002c0036 a0002c0036	a0002c0036t0029 a0002c0036t0029	a0002c0036t0029g0009 a0002c0036t0029g0009	1	126	0.0079	-16	c.86- others(33): Show c.86-70344_86-70329delTTTTTTTTTTTTTTTT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	1/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4742000	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0125 a0001c0001t0002g0125	1	126	0.0079	-16	c.86- others(35): Show c.86-104458_86-104443delAAAAAAAAAAAAAAAA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	1/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4753403	CCACACAC others(9): Show CCACACACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00735.hp1 HG01071.hp1 others(36): Show HG00099.hp1 HG00735.hp1 HG01071.hp1 HG01071.hp2 HG01123.hp2 HG01255.hp1 HG01255.hp2 HG01261.hp1 HG01934.hp2 HG02074.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02723.hp2 HG02965.hp1 HG02965.hp2 HG03017.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03710.hp2 HG04228.hp1 HG06807.hp2 NA18906.hp2 NA18979.hp1 NA18982.hp1 NA18983.hp1 NA18995.hp1 NA19043.hp1 NA19043.hp2 NA19060.hp2 NA19074.hp2 NA19090.hp1	a0001 a0002 a0003 others(13): Show a0001 a0002 a0003 a0004 a0005 a0008 a0009 a0013 a0017 a0020 a0021 a0022 a0028 a0030 a0036 a0038	a0001c0001 a0001c0003 a0001c0017 others(36): Show a0001c0001 a0001c0003 a0001c0017 a0001c0033 a0001c0047 a0001c0049 a0001c0050 a0001c0061 a0001c0068 a0001c0090 a0001c0093 a0001c0102 a0001c0108 a0001c0109 a0001c0114 a0001c0115 a0002c0031 a0002c0036 a0002c0041 a0002c0048 a0002c0051 a0002c0054 a0002c0075 a0002c0091 a0003c0034 a0004c0086 a0004c0099 a0005c0065 a0008c0067 a0009c0113 a0013c0027 a0017c0106 a0020c0024 a0021c0016 a0022c0013 a0028c0097 a0030c0052 a0036c0100 a0038c0066	a0001c0001t0002 a0001c0003t0008 a0001c0017t0005 others(36): Show a0001c0001t0002 a0001c0003t0008 a0001c0017t0005 a0001c0033t0003 a0001c0047t0014 a0001c0049t0002 a0001c0050t0053 a0001c0061t0001 a0001c0068t0015 a0001c0090t0001 a0001c0093t0009 a0001c0102t0005 a0001c0108t0054 a0001c0109t0038 a0001c0114t0003 a0001c0115t0042 a0002c0031t0015 a0002c0036t0029 a0002c0041t0027 a0002c0048t0013 a0002c0051t0006 a0002c0054t0079 a0002c0075t0026 a0002c0091t0002 a0003c0034t0030 a0004c0086t0002 a0004c0099t0014 a0005c0065t0023 a0008c0067t0059 a0009c0113t0011 a0013c0027t0003 a0017c0106t0012 a0020c0024t0077 a0021c0016t0048 a0022c0013t0007 a0028c0097t0018 a0030c0052t0049 a0036c0100t0017 a0038c0066t0010	a0001c0001t0002g0125 a0001c0003t0008g0053 a0001c0017t0005g0003 others(36): Show a0001c0001t0002g0125 a0001c0003t0008g0053 a0001c0017t0005g0003 a0001c0033t0003g0059 a0001c0047t0014g0024 a0001c0049t0002g0071 a0001c0050t0053g0120 a0001c0061t0001g0021 a0001c0068t0015g0049 a0001c0090t0001g0027 a0001c0093t0009g0007 a0001c0102t0005g0034 a0001c0108t0054g0074 a0001c0109t0038g0013 a0001c0114t0003g0119 a0001c0115t0042g0055 a0002c0031t0015g0001 a0002c0036t0029g0009 a0002c0041t0027g0018 a0002c0048t0013g0015 a0002c0051t0006g0081 a0002c0054t0079g0096 a0002c0075t0026g0051 a0002c0091t0002g0114 a0003c0034t0030g0038 a0004c0086t0002g0118 a0004c0099t0014g0020 a0005c0065t0023g0050 a0008c0067t0059g0079 a0009c0113t0011g0043 a0013c0027t0003g0099 a0017c0106t0012g0042 a0020c0024t0077g0104 a0021c0016t0048g0106 a0022c0013t0007g0112 a0028c0097t0018g0089 a0030c0052t0049g0098 a0036c0100t0017g0121 a0038c0066t0010g0032	39	126	0.3095	-16	c.86- others(35): Show c.86-115861_86-115846delTGTGTGTGTGTGTGTG	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	1/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4761836	CATCTATC others(9): Show CATCTATCTATCTATCT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0007 a0001c0005t0007	a0001c0005t0007g0070 a0001c0005t0007g0070	1	126	0.0079	-16	c.86- others(35): Show c.86-124294_86-124279delAGATAGATAGATAGAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	1/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4761878	TCTATCTA others(9): Show TCTATCTATCTACCTAC	T T	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02055.hp1 HG03209.hp2 others(1): Show HG00735.hp2 HG02055.hp1 HG03209.hp2 NA19030.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0019 a0001c0073 a0002c0060 others(1): Show a0001c0019 a0001c0073 a0002c0060 a0006c0083	a0001c0019t0078 a0001c0073t0007 a0002c0060t0006 others(1): Show a0001c0019t0078 a0001c0073t0007 a0002c0060t0006 a0006c0083t0004	a0001c0019t0078g0105 a0001c0073t0007g0108 a0002c0060t0006g0094 others(1): Show a0001c0019t0078g0105 a0001c0073t0007g0108 a0002c0060t0006g0094 a0006c0083t0004g0006	4	126	0.0318	-16	c.86- others(35): Show c.86-124336_86-124321delGTAGGTAGATAGATAG	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	1/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4761896	TATCTATC others(9): Show TATCTATCTATCTATCA	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01071.hp2 HG01255.hp2 others(10): Show HG00438.hp1 HG01071.hp2 HG01255.hp2 HG01261.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp2 HG02723.hp2 HG02965.hp1 HG03017.hp2 HG03516.hp1 NA18906.hp2 NA18983.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0005 a0008 a0030 a0036	a0001c0047 a0001c0049 a0001c0061 others(10): Show a0001c0047 a0001c0049 a0001c0061 a0001c0094 a0001c0108 a0001c0114 a0002c0075 a0003c0014 a0003c0034 a0005c0065 a0008c0067 a0030c0052 a0036c0100	a0001c0047t0014 a0001c0049t0002 a0001c0061t0001 others(10): Show a0001c0047t0014 a0001c0049t0002 a0001c0061t0001 a0001c0094t0002 a0001c0108t0054 a0001c0114t0003 a0002c0075t0026 a0003c0014t0055 a0003c0034t0030 a0005c0065t0023 a0008c0067t0059 a0030c0052t0049 a0036c0100t0017	a0001c0047t0014g0024 a0001c0049t0002g0071 a0001c0061t0001g0021 others(10): Show a0001c0047t0014g0024 a0001c0049t0002g0071 a0001c0061t0001g0021 a0001c0094t0002g0110 a0001c0108t0054g0074 a0001c0114t0003g0119 a0002c0075t0026g0051 a0003c0014t0055g0056 a0003c0034t0030g0038 a0005c0065t0023g0050 a0008c0067t0059g0079 a0030c0052t0049g0098 a0036c0100t0017g0121	13	126	0.1032	-16	c.86- others(35): Show c.86-124354_86-124339delTGATAGATAGATAGAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	1/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4774823	CCTCCTAC others(9): Show CCTCCTACTGGAGGCAT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02451.hp2 HG02615.hp2 others(6): Show HG01243.hp1 HG02451.hp2 HG02615.hp2 HG02647.hp2 HG02886.hp1 HG03098.hp1 HG03209.hp2 HG03225.hp2 HG03516.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0029	a0001c0002 a0001c0004 a0001c0025 others(6): Show a0001c0002 a0001c0004 a0001c0025 a0001c0039 a0002c0060 a0002c0084 a0003c0014 a0005c0064 a0029c0028	a0001c0002t0028 a0001c0004t0063 a0001c0025t0003 others(6): Show a0001c0002t0028 a0001c0004t0063 a0001c0025t0003 a0001c0039t0066 a0002c0060t0006 a0002c0084t0018 a0003c0014t0055 a0005c0064t0051 a0029c0028t0024	a0001c0002t0028g0005 a0001c0004t0063g0095 a0001c0025t0003g0077 others(6): Show a0001c0002t0028g0005 a0001c0004t0063g0095 a0001c0025t0003g0077 a0001c0039t0066g0080 a0002c0060t0006g0094 a0002c0084t0018g0087 a0003c0014t0055g0056 a0005c0064t0051g0078 a0029c0028t0024g0040	9	126	0.0714	-16	c.86- others(35): Show c.86-137281_86-137266delATGCCTCCAGTAGGAG	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	1/69			chr8	TogoVar
CSMD2_chr1_33508998_34170230	33544842	TATATATA others(9): Show TATATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00673.hp2 HG01074.hp2 others(8): Show HG00438.hp2 HG00673.hp2 HG01074.hp2 HG01109.hp2 HG01243.hp1 HG01978.hp2 HG02080.hp2 HG02922.hp1 HG06807.hp1 NA18998.hp2 NA19043.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0011 a0013 a0017 a0020 a0031	a0001c0001 a0001c0026 a0001c0042 others(7): Show a0001c0001 a0001c0026 a0001c0042 a0002c0002 a0003c0003 a0011c0039 a0013c0041 a0017c0052 a0020c0054 a0031c0007	a0001c0001t0003 a0001c0001t0005 a0001c0026t0003 others(8): Show a0001c0001t0003 a0001c0001t0005 a0001c0026t0003 a0001c0042t0005 a0002c0002t0005 a0003c0003t0005 a0011c0039t0014 a0013c0041t0005 a0017c0052t0003 a0020c0054t0008 a0031c0007t0002	a0001c0001t0003g0063 a0001c0001t0005g0055 a0001c0026t0003g0035 others(8): Show a0001c0001t0003g0063 a0001c0001t0005g0055 a0001c0026t0003g0035 a0001c0042t0005g0051 a0002c0002t0005g0036 a0003c0003t0005g0029 a0011c0039t0014g0014 a0013c0041t0005g0011 a0017c0052t0003g0040 a0020c0054t0008g0030 a0031c0007t0002g0002	11	66	0.1667	-16	c.910 others(35): Show c.9100+1179_9100+1194delGTGTATATATATATAT	CSMD2	ENSG00000121904.19	transcript	ENST00000373381.9	protein_coding	57/70			chr1	TogoVar
CSMD2_chr1_33508998_34170230	33581529	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0040 a0001c0040	a0001c0040t0001 a0001c0040t0001	a0001c0040t0001g0010 a0001c0040t0001g0010	1	66	0.0152	-16	c.724 others(33): Show c.7241-646_7241-631delTTTTTTTTTTTTTTTT	CSMD2	ENSG00000121904.19	transcript	ENST00000373381.9	protein_coding	47/70			chr1	TogoVar
CSMD2_chr1_33508998_34170230	33706871	GTGCATGT others(9): Show GTGCATGTGTTTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01109.hp1 HG02717.hp1 others(5): Show HG01069.hp1 HG01109.hp1 HG02717.hp1 HG02922.hp2 HG03017.hp1 HG03195.hp1 HG03209.hp1 NA20300.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0007 a0022 a0030	a0001c0040 a0001c0044 a0002c0006 others(5): Show a0001c0040 a0001c0044 a0002c0006 a0002c0043 a0004c0051 a0007c0025 a0022c0019 a0030c0008	a0001c0040t0001 a0001c0044t0002 a0002c0006t0004 others(5): Show a0001c0040t0001 a0001c0044t0002 a0002c0006t0004 a0002c0043t0003 a0004c0051t0001 a0007c0025t0001 a0022c0019t0011 a0030c0008t0004	a0001c0040t0001g0010 a0001c0044t0002g0026 a0002c0006t0004g0052 others(5): Show a0001c0040t0001g0010 a0001c0044t0002g0026 a0002c0006t0004g0052 a0002c0043t0003g0061 a0004c0051t0001g0019 a0007c0025t0001g0042 a0022c0019t0011g0017 a0030c0008t0004g0001	8	66	0.1212	-16	c.357 others(35): Show c.3576+2202_3576+2217delTACACAAACACATGCA	CSMD2	ENSG00000121904.19	transcript	ENST00000373381.9	protein_coding	22/70			chr1	TogoVar
CSMD2_chr1_33508998_34170230	33774107	TTGTGTGT others(9): Show TTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0018 a0018	a0018c0029 a0018c0029	a0018c0029t0007 a0018c0029t0007	a0018c0029t0007g0025 a0018c0029t0007g0025	1	66	0.0152	-16	c.166 others(35): Show c.1664-1372_1664-1357delCACACACACACACACA	CSMD2	ENSG00000121904.19	transcript	ENST00000373381.9	protein_coding	12/70			chr1	TogoVar
CSMD2_chr1_33508998_34170230	33783431	TTCTCTCT others(9): Show TTCTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0005 a0005	a0005c0015 a0005c0015	a0005c0015t0001 a0005c0015t0001	a0005c0015t0001g0021 a0005c0015t0001g0021	1	66	0.0152	-16	c.166 others(35): Show c.1663+5153_1663+5168delGAGAGAGAGAGAGAGA	CSMD2	ENSG00000121904.19	transcript	ENST00000373381.9	protein_coding	12/70			chr1	TogoVar
CSMD2_chr1_33508998_34170230	33790661	GTCTATCT others(9): Show GTCTATCTATCTATCTA	G G	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0002 a0002	a0002c0027 a0002c0027	a0002c0027t0003 a0002c0027t0003	a0002c0027t0003g0045 a0002c0027t0003g0045	1	66	0.0152	-16	c.155 others(35): Show c.1550+1746_1550+1761delTAGATAGATAGATAGA	CSMD2	ENSG00000121904.19	transcript	ENST00000373381.9	protein_coding	11/70			chr1	TogoVar
CSMD2_chr1_33508998_34170230	33952688	ACACACAC others(9): Show ACACACACACACACATG	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03471.hp1 NA18906.hp1 others(1): Show HG02647.hp1 HG03471.hp1 NA18906.hp1 NA19030.hp1	a0005 a0006 a0008 others(1): Show a0005 a0006 a0008 a0024	a0005c0020 a0006c0013 a0008c0022 others(1): Show a0005c0020 a0006c0013 a0008c0022 a0024c0014	a0005c0020t0006 a0006c0013t0003 a0008c0022t0001 others(1): Show a0005c0020t0006 a0006c0013t0003 a0008c0022t0001 a0024c0014t0002	a0005c0020t0006g0046 a0006c0013t0003g0058 a0008c0022t0001g0060 others(1): Show a0005c0020t0006g0046 a0006c0013t0003g0058 a0008c0022t0001g0060 a0024c0014t0002g0059	4	66	0.0606	-16	c.518 others(35): Show c.518-16750_518-16735delCATGTGTGTGTGTGTG	CSMD2	ENSG00000121904.19	transcript	ENST00000373381.9	protein_coding	3/70			chr1	TogoVar
CSMD2_chr1_33508998_34170230	33989013	CATATATA others(9): Show CATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01192.hp2 HG01978.hp2 others(4): Show HG00673.hp1 HG01192.hp2 HG01978.hp2 HG02886.hp1 HG02922.hp2 HG03225.hp1 NA18998.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0008 a0009 a0018 a0030	a0001c0042 a0002c0002 a0003c0003 others(4): Show a0001c0042 a0002c0002 a0003c0003 a0008c0021 a0009c0055 a0018c0029 a0030c0008	a0001c0042t0005 a0002c0002t0001 a0003c0003t0005 others(4): Show a0001c0042t0005 a0002c0002t0001 a0003c0003t0005 a0008c0021t0004 a0009c0055t0001 a0018c0029t0007 a0030c0008t0004	a0001c0042t0005g0051 a0002c0002t0001g0013 a0003c0003t0005g0029 others(4): Show a0001c0042t0005g0051 a0002c0002t0001g0013 a0003c0003t0005g0029 a0008c0021t0004g0023 a0009c0055t0001g0049 a0018c0029t0007g0025 a0030c0008t0004g0001	7	66	0.1061	-16	c.517 others(35): Show c.517+43565_517+43580delATATATATATATATAT	CSMD2	ENSG00000121904.19	transcript	ENST00000373381.9	protein_coding	3/70			chr1	TogoVar
CSMD2_chr1_33508998_34170230	34080921	GGAAAGAA others(9): Show GGAAAGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02965.hp2 HG03209.hp1 others(1): Show HG01109.hp1 HG02965.hp2 HG03209.hp1 HG03471.hp1	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0022	a0001c0045 a0002c0006 a0006c0013 others(1): Show a0001c0045 a0002c0006 a0006c0013 a0022c0019	a0001c0045t0013 a0002c0006t0004 a0006c0013t0003 others(1): Show a0001c0045t0013 a0002c0006t0004 a0006c0013t0003 a0022c0019t0011	a0001c0045t0013g0027 a0002c0006t0004g0052 a0006c0013t0003g0058 others(1): Show a0001c0045t0013g0027 a0002c0006t0004g0052 a0006c0013t0003g0058 a0022c0019t0011g0017	4	66	0.0606	-16	c.404 others(33): Show c.404+8040_404+8055delTTTCTTTCTTTCTTTC	CSMD2	ENSG00000121904.19	transcript	ENST00000373381.9	protein_coding	2/70			chr1	TogoVar
CSMD2_chr1_33508998_34170230	34111982	TTCTCTCT others(9): Show TTCTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0018 a0018	a0018c0029 a0018c0029	a0018c0029t0007 a0018c0029t0007	a0018c0029t0007g0025 a0018c0029t0007g0025	1	66	0.0152	-16	c.188 others(35): Show c.188-22805_188-22790delGAGAGAGAGAGAGAGA	CSMD2	ENSG00000121904.19	transcript	ENST00000373381.9	protein_coding	1/70			chr1	TogoVar
CSMD3_chr8_112217928_113441939	112270343	AGTGTGTG others(9): Show AGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0004 a0001c0006t0004	a0001c0006t0004g0060 a0001c0006t0004g0060	1	80	0.0125	-16	c.950 others(35): Show c.9509-4769_9509-4754delACACACACACACACAC	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	59/70			chr8	TogoVar
CSMD3_chr8_112217928_113441939	112342987	TTATATAT others(9): Show TTATATATATATATTTA	T T	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0044 a0001c0001t0003g0044	1	80	0.0125	-16	c.644 others(35): Show c.6443-1317_6443-1302delTAAATATATATATATA	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	41/70			chr8	TogoVar
CSMD3_chr8_112217928_113441939	112361572	CATATATA others(9): Show CATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00741.hp2 HG01074.hp2 others(8): Show HG00438.hp1 HG00741.hp2 HG01074.hp2 HG01081.hp2 HG01175.hp2 HG01257.hp1 HG02895.hp1 HG02922.hp1 HG02976.hp1 NA18944.hp1 NA19030.hp2	a0001 a0002 a0015 others(1): Show a0001 a0002 a0015 a0016	a0001c0001 a0001c0024 a0002c0003 others(4): Show a0001c0001 a0001c0024 a0002c0003 a0002c0010 a0002c0033 a0015c0031 a0016c0034	a0001c0001t0002 a0001c0001t0003 a0001c0024t0002 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0024t0002 a0002c0003t0002 a0002c0010t0002 a0002c0033t0002 a0015c0031t0002 a0016c0034t0002	a0001c0001t0002g0014 a0001c0001t0002g0022 a0001c0001t0002g0025 others(8): Show a0001c0001t0002g0014 a0001c0001t0002g0022 a0001c0001t0002g0025 a0001c0001t0002g0068 a0001c0001t0003g0010 a0001c0024t0002g0024 a0002c0003t0002g0006 a0002c0010t0002g0070 a0002c0033t0002g0029 a0015c0031t0002g0049 a0016c0034t0002g0011	11	80	0.1375	-16	c.613 others(35): Show c.6137-9054_6137-9039delATATATATATATATAT	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	38/70			chr8	TogoVar
CSMD3_chr8_112217928_113441939	112365110	AATGAATA others(9): Show AATGAATAGAGAGAAAT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00741.hp2 HG01074.hp2 others(10): Show HG00438.hp1 HG00741.hp2 HG01074.hp2 HG01081.hp2 HG01175.hp2 HG01257.hp1 HG02258.hp2 HG02895.hp1 HG02922.hp1 HG02970.hp1 HG02976.hp1 NA18944.hp1 NA19030.hp2	a0001 a0002 a0015 others(1): Show a0001 a0002 a0015 a0016	a0001c0001 a0001c0019 a0001c0024 others(6): Show a0001c0001 a0001c0019 a0001c0024 a0002c0003 a0002c0010 a0002c0028 a0002c0033 a0015c0031 a0016c0034	a0001c0001t0002 a0001c0001t0003 a0001c0019t0005 others(7): Show a0001c0001t0002 a0001c0001t0003 a0001c0019t0005 a0001c0024t0002 a0002c0003t0002 a0002c0010t0002 a0002c0028t0005 a0002c0033t0002 a0015c0031t0002 a0016c0034t0002	a0001c0001t0002g0014 a0001c0001t0002g0022 a0001c0001t0002g0025 others(10): Show a0001c0001t0002g0014 a0001c0001t0002g0022 a0001c0001t0002g0025 a0001c0001t0002g0068 a0001c0001t0003g0010 a0001c0019t0005g0065 a0001c0024t0002g0024 a0002c0003t0002g0006 a0002c0010t0002g0070 a0002c0028t0005g0078 a0002c0033t0002g0029 a0015c0031t0002g0049 a0016c0034t0002g0011	13	80	0.1625	-16	c.613 others(37): Show c.6137-12592_6137-12577delATTTCTCTCTATTCAT	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	38/70			chr8	TogoVar
CSMD3_chr8_112217928_113441939	112494494	CCTTTCTT others(9): Show CCTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02970.hp1 HG01261.hp2 HG02970.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0028 a0001c0001 a0002c0028	a0001c0001t0007 a0002c0028t0005 a0001c0001t0007 a0002c0028t0005	a0001c0001t0007g0041 a0002c0028t0005g0078 a0001c0001t0007g0041 a0002c0028t0005g0078	2	80	0.0250	-16	c.508 others(35): Show c.5084-1827_5084-1812delAAAGAAAGAAAGAAAG	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	30/70			chr8	TogoVar
CSMD3_chr8_112217928_113441939	112636538	TTCTATCT others(9): Show TTCTATCTATCTATCTA	T T	intron_variant intron_variant	MODIFIER	HG03225.hp2 NA19240.hp1 HG03225.hp2 NA19240.hp1	a0002 a0007 a0002 a0007	a0002c0003 a0007c0009 a0002c0003 a0007c0009	a0002c0003t0006 a0007c0009t0001 a0002c0003t0006 a0007c0009t0001	a0002c0003t0006g0061 a0007c0009t0001g0069 a0002c0003t0006g0061 a0007c0009t0001g0069	2	80	0.0250	-16	c.371 others(33): Show c.3715+263_3715+278delTAGATAGATAGATAGA	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	22/70			chr8	TogoVar
CSMD3_chr8_112217928_113441939	112692913	ATATCTAT others(9): Show ATATCTATCTATCTATC	A A	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02257.hp2 HG03471.hp2 others(4): Show HG01081.hp1 HG02257.hp2 HG03471.hp2 HG03490.hp1 HG03688.hp1 HG04115.hp1 NA18944.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0006	a0001c0001 a0002c0005 a0003c0002 others(3): Show a0001c0001 a0002c0005 a0003c0002 a0003c0020 a0004c0004 a0006c0008	a0001c0001t0002 a0001c0001t0004 a0002c0005t0001 others(4): Show a0001c0001t0002 a0001c0001t0004 a0002c0005t0001 a0003c0002t0001 a0003c0020t0001 a0004c0004t0001 a0006c0008t0005	a0001c0001t0002g0014 a0001c0001t0004g0067 a0002c0005t0001g0036 others(4): Show a0001c0001t0002g0014 a0001c0001t0004g0067 a0002c0005t0001g0036 a0003c0002t0001g0075 a0003c0020t0001g0080 a0004c0004t0001g0031 a0006c0008t0005g0004	7	80	0.0875	-16	c.197 others(35): Show c.1973-2879_1973-2864delGATAGATAGATAGATA	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	13/70			chr8	TogoVar
CSMD3_chr8_112217928_113441939	112827164	AATATATA others(9): Show AATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	80	0.0125	-16	c.185 others(35): Show c.1859+2506_1859+2521delATATATATATATATAT	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	12/70			chr8	TogoVar
CSMD3_chr8_112217928_113441939	113024304	GTGTGTGT others(9): Show GTGTGTGTGTGTGTGTT	G G	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0011 a0011	a0011c0035 a0011c0035	a0011c0035t0001 a0011c0035t0001	a0011c0035t0001g0003 a0011c0035t0001g0003	1	80	0.0125	-16	c.918 others(33): Show c.918-5141_918-5126delAACACACACACACACA	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	5/70			chr8	TogoVar
CSMD3_chr8_112217928_113441939	113112386	CATATATA others(9): Show CATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0007 a0001c0001t0004g0007	1	80	0.0125	-16	c.710 others(35): Show c.710-13439_710-13424delATATATATATATATAT	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	4/70			chr8	TogoVar
CSMD3_chr8_112217928_113441939	113355716	TTATTTTT others(9): Show TTATTTTTATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0042 a0001c0001t0004g0042	1	80	0.0125	-16	c.179 others(35): Show c.179-40939_179-40924delTATATATATAAAAATA	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	1/70			chr8	TogoVar
CSMD3_chr8_112217928_113441939	113397821	AAAATAAA others(9): Show AAAATAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02055.hp1 HG00673.hp2 HG02055.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0004 a0004c0004t0001 a0001c0001t0004 a0004c0004t0001	a0001c0001t0004g0007 a0004c0004t0001g0076 a0001c0001t0004g0007 a0004c0004t0001g0076	2	80	0.0250	-16	c.178 others(35): Show c.178+38840_178+38855delATTTATTTATTTATTT	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	1/70			chr8	TogoVar
CSMD3_chr8_112217928_113441939	113410900	TGAAAGAA others(9): Show TGAAAGAAAGAAAGAAA	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0017 a0017	a0017c0029 a0017c0029	a0017c0029t0004 a0017c0029t0004	a0017c0029t0004g0063 a0017c0029t0004g0063	1	80	0.0125	-16	c.178 others(35): Show c.178+25761_178+25776delTTTCTTTCTTTCTTTC	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	1/70			chr8	TogoVar
CSMD3_chr8_112217928_113441939	113422993	TCTAAACA others(9): Show TCTAAACAAAAAATGTA	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02717.hp1 HG02895.hp1 others(3): Show HG02055.hp1 HG02717.hp1 HG02895.hp1 HG03041.hp2 HG03225.hp1 HG03471.hp1	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0008	a0001c0001 a0003c0002 a0005c0012 others(2): Show a0001c0001 a0003c0002 a0005c0012 a0005c0013 a0008c0014	a0001c0001t0002 a0001c0001t0004 a0003c0002t0001 others(3): Show a0001c0001t0002 a0001c0001t0004 a0003c0002t0001 a0005c0012t0001 a0005c0013t0001 a0008c0014t0005	a0001c0001t0002g0025 a0001c0001t0004g0007 a0003c0002t0001g0008 others(3): Show a0001c0001t0002g0025 a0001c0001t0004g0007 a0003c0002t0001g0008 a0005c0012t0001g0038 a0005c0013t0001g0039 a0008c0014t0005g0040	6	80	0.0750	-16	c.178 others(35): Show c.178+13668_178+13683delTACATTTTTTGTTTAG	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	1/70			chr8	TogoVar
CSMD3_chr8_112217928_113441939	113428204	ATATCTAT others(9): Show ATATCTATCTATCTATC	A A	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0072 a0003c0002t0001g0072	1	80	0.0125	-16	c.178 others(33): Show c.178+8457_178+8472delGATAGATAGATAGATA	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	1/70			chr8	TogoVar
CSNK1A1_chr5_149487982_149556439	149542592	TTATATAT others(9): Show TTATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0148 a0001c0001t0047g0148	1	390	0.0026	-16	c.230 others(33): Show c.230+7467_230+7482delTATATATATATATATA	CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9			chr5	TogoVar
CSNK1A1_chr5_149487982_149556439	149542624	ATATATAT others(9): Show ATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18995.hp2 NA18949.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0161 a0001c0001t0003g0165 a0001c0001t0003g0161 a0001c0001t0003g0165	2	390	0.0051	-16	c.230 others(33): Show c.230+7435_230+7450delCATATATATATATATA	CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9			chr5	TogoVar
CSNK1G1_chr15_64160525_64361173	64229902	ATTTTTTT others(9): Show ATTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0113 a0001c0001t0007g0113	1	176	0.0057	-16	c.293 others(35): Show c.293-13205_293-13190delAAAAAAAAAAAAAAAA	CSNK1G1	ENSG00000169118.18	transcript	ENST00000303052.13	protein_coding	4/11			chr15	TogoVar
CSNK1G1_chr15_64160525_64361173	64259483	TACACACA others(9): Show TACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03579.hp1 HG02965.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0018 a0001c0001t0017 a0001c0001t0018	a0001c0001t0017g0135 a0001c0001t0018g0136 a0001c0001t0017g0135 a0001c0001t0018g0136	2	176	0.0114	-16	c.182 others(31): Show c.182-258_182-243delGTGTGTGTGTGTGTGT	CSNK1G1	ENSG00000169118.18	transcript	ENST00000303052.13	protein_coding	2/11			chr15	TogoVar
CSNK1G1_chr15_64160525_64361173	64346422	TTTTATTT others(9): Show TTTTATTTATTTATTTA	T T	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02896.hp1 HG02897.hp2 others(7): Show HG02559.hp2 HG02896.hp1 HG02897.hp2 HG02976.hp1 NA18906.hp2 NA18939.hp2 NA18957.hp2 NA19002.hp2 NA20300.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0011 a0001c0001t0021 others(1): Show a0001c0001t0008 a0001c0001t0011 a0001c0001t0021 a0001c0001t0032	a0001c0001t0008g0137 a0001c0001t0008g0138 a0001c0001t0008g0139 others(7): Show a0001c0001t0008g0137 a0001c0001t0008g0138 a0001c0001t0008g0139 a0001c0001t0008g0141 a0001c0001t0008g0142 a0001c0001t0011g0106 a0001c0001t0011g0107 a0001c0001t0011g0108 a0001c0001t0021g0109 a0001c0001t0032g0140	10	176	0.0568	-16	c.-22 others(35): Show c.-225+9550_-225+9565delTAAATAAATAAATAAA	CSNK1G1	ENSG00000169118.18	transcript	ENST00000303052.13	protein_coding	1/11			chr15	TogoVar
CSNK1G3_chr5_123507177_123622049	123619518	GTTTTTTT others(9): Show GTTTTTTTTCTTTTTTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19011.hp1 NA19076.hp2 NA19011.hp1 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0065 a0001c0001t0004g0094 a0001c0001t0004g0065 a0001c0001t0004g0094	2	294	0.0068	-16	c.51 others(27): Show c.5123_*5138delTTTTTTTTCTTTTTTT	CSNK1G3	ENSG00000151292.19	transcript	ENST00000696905.1	protein_coding		2470		chr5	TogoVar
CSNK2A1_chr20_467498_548790	485101	AAAAAAAA others(9): Show AAAAAAAAAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0069 a0001c0001t0069	a0001c0001t0069g0075 a0001c0001t0069g0075	1	316	0.0032	-16	c.106 others(35): Show c.1061-1041_1061-1026delATATATATTTTTTTTT	CSNK2A1	ENSG00000101266.19	transcript	ENST00000217244.9	protein_coding	13/13			chr20	TogoVar
CSNK2A2_chr16_58152907_58203106	58155748	GGTGTGTG others(9): Show GGTGTGTGTGTGTGTGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00423.hp2 others(136): Show HG00099.hp2 HG00280.hp2 HG00423.hp2 HG00544.hp2 HG00597.hp1 HG00621.hp2 HG00639.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00741.hp1 HG01071.hp2 HG01106.hp2 HG01123.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01433.hp1 HG01433.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01928.hp1 HG01928.hp2 HG01952.hp1 HG01978.hp1 HG01993.hp1 HG02004.hp1 HG02027.hp2 HG02056.hp2 HG02080.hp2 HG02109.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02257.hp2 HG02280.hp1 HG02293.hp1 HG02300.hp2 HG02523.hp1 HG02647.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp2 HG02735.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp2 HG02922.hp1 HG03041.hp1 HG03098.hp1 HG03195.hp2 HG03471.hp2 HG03516.hp1 HG03654.hp1 HG03688.hp1 HG03831.hp1 HG03834.hp1 HG03927.hp1 HG03942.hp2 HG06807.hp1 NA18939.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18946.hp1 NA18947.hp1 NA18948.hp2 NA18951.hp2 NA18953.hp2 NA18954.hp1 NA18956.hp2 NA18957.hp1 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18970.hp2 NA18971.hp2 NA18974.hp1 NA18974.hp2 NA18978.hp1 NA18979.hp1 NA18980.hp1 NA18982.hp2 NA18984.hp2 NA18985.hp1 NA18989.hp2 NA18992.hp1 NA18992.hp2 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19030.hp1 NA19043.hp2 NA19057.hp2 NA19058.hp2 NA19060.hp1 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19077.hp2 NA19080.hp1 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA20129.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 a0001c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(108): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0154 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0223 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0252 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0282 a0001c0001t0006g0062 a0001c0001t0008g0048 a0001c0003t0001g0250	139	400	0.3475	-16	c.26 others(27): Show c.2607_*2622delACACACACACACACAC	CSNK2A2	ENSG00000070770.10	transcript	ENST00000262506.8	protein_coding		2158		chr16	TogoVar
CSNK2A2_chr16_58152907_58203106	58171969	ATATATAT others(9): Show ATATATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	400	0.0025	-16	c.429 others(33): Show c.429+2466_429+2481delAAAAAATATATATATA	CSNK2A2	ENSG00000070770.10	transcript	ENST00000262506.8	protein_coding	5/11			chr16	TogoVar
CSNK2A2_chr16_58152907_58203106	58201146	GTGTGTGT others(9): Show GTGTGTGTGTGTGTGCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG00597.hp1 HG00621.hp2 others(1): Show HG00544.hp2 HG00597.hp1 HG00621.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0172 a0001c0001t0001g0203 others(1): Show a0001c0001t0001g0024 a0001c0001t0001g0172 a0001c0001t0001g0203 a0001c0001t0001g0242	4	400	0.0100	-16	c.-34 others(27): Show c.-3426_-3411delTGCACACACACACACA	CSNK2A2	ENSG00000070770.10	transcript	ENST00000262506.8	protein_coding		3041		chr16	TogoVar
CSNKA2IP_chr3_88333456_88472594	88446026	TTTCTTTT others(9): Show TTTCTTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01167.hp2 HG01168.hp1 others(18): Show HG00642.hp2 HG01167.hp2 HG01168.hp1 HG01256.hp1 HG01891.hp2 HG02027.hp2 HG02145.hp1 HG02155.hp2 HG02300.hp1 HG03540.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03942.hp2 HG06807.hp2 NA18952.hp2 NA18960.hp1 NA18983.hp1 NA18991.hp2 NA19091.hp2 NA20752.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0004 a0002c0006 others(2): Show a0001c0001 a0001c0004 a0002c0006 a0003c0003 a0005c0007	a0001c0001t0001 a0001c0001t0002 a0001c0004t0002 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0002 a0002c0006t0001 a0003c0003t0002 a0005c0007t0002	a0001c0001t0001g0053 a0001c0001t0001g0143 a0001c0001t0002g0262 others(18): Show a0001c0001t0001g0053 a0001c0001t0001g0143 a0001c0001t0002g0262 a0001c0001t0002g0286 a0001c0001t0002g0301 a0001c0001t0002g0304 a0001c0001t0002g0307 a0001c0001t0002g0312 a0001c0001t0002g0319 a0001c0001t0002g0323 a0001c0001t0002g0331 a0001c0001t0002g0352 a0001c0001t0002g0359 a0001c0001t0002g0382 a0001c0004t0002g0380 a0002c0006t0001g0003 a0002c0006t0001g0133 a0002c0006t0001g0176 a0003c0003t0002g0341 a0005c0007t0002g0288 a0005c0007t0002g0324	21	386	0.0544	-16	c.-27 others(37): Show c.-270-19059_-270-19044delCTTTTCTTTCTTTCTT	CSNKA2IP	ENSG00000283434.2	transcript	ENST00000637986.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)