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.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
CSGALNACT1_chr8_19399161_19762277	19667015	GAAAGGAA others(12): Show GAAAGGAAGGAAGGAAGGAA	G G	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0187 a0001c0001t0005g0187	1	238	0.0042	-19	c.-39 others(40): Show c.-391-65169_-391-65151delTTCCTTCCTTCCTTCCTTT		CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8						chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19667021	AAGGAAGG others(12): Show AAGGAAGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02622.hp1 NA19043.hp1 HG01106.hp1 HG02622.hp1 NA19043.hp1	a0001 a0002 a0012 a0001 a0002 a0012	a0001c0002 a0002c0003 a0012c0021 a0001c0002 a0002c0003 a0012c0021	a0001c0002t0047 a0002c0003t0007 a0012c0021t0040 a0001c0002t0047 a0002c0003t0007 a0012c0021t0040	a0001c0002t0047g0197 a0002c0003t0007g0176 a0012c0021t0040g0178 a0001c0002t0047g0197 a0002c0003t0007g0176 a0012c0021t0040g0178	3	238	0.0126	-19	c.-39 others(40): Show c.-391-65175_-391-65157delCCTTCCTTCCTTCCTTCCT		CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8						chr8	TogoVar
CSMD1_chr8_2930361_4999914	3308051	CATGTGAT others(12): Show CATGTGATAATTCTAATAAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00423.hp2 HG00438.hp1 others(69): Show HG00099.hp1 HG00423.hp2 HG00438.hp1 HG00735.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01123.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01261.hp2 HG01884.hp1 HG01934.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp2 HG02129.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02683.hp1 HG02886.hp1 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG03017.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03669.hp2 HG03834.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp2 NA18971.hp2 NA18983.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19060.hp1 NA19060.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2	a0001 a0002 a0003 others(25): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0012 a0013 a0014 a0015 a0016 a0018 a0019 a0021 a0023 a0028 a0029 a0031 a0032 a0033 a0034 a0035 a0036 a0037	a0001c0001 a0001c0002 a0001c0004 others(66): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007 a0001c0017 a0001c0019 a0001c0021 a0001c0026 a0001c0039 a0001c0040 a0001c0046 a0001c0047 a0001c0049 a0001c0050 a0001c0061 a0001c0068 a0001c0085 a0001c0093 a0001c0094 a0001c0102 a0001c0111 a0001c0114 a0001c0115 a0002c0031 a0002c0035 a0002c0041 a0002c0048 a0002c0051 a0002c0053 a0002c0060 a0002c0070 a0002c0072 a0002c0078 a0002c0089 a0002c0091 a0002c0092 a0003c0014 a0003c0034 a0003c0057 a0003c0058 a0004c0056 a0004c0099 a0005c0107 a0006c0083 a0006c0116 a0007c0029 a0007c0088 a0008c0008 a0008c0067 a0009c0113 a0010c0112 a0012c0104 a0013c0027 a0014c0010 a0015c0062 a0016c0063 a0018c0044 a0019c0018 a0021c0016 a0023c0095 a0028c0097 a0029c0028 a0031c0069 a0032c0011 a0033c0042 a0034c0055 a0035c0098 a0036c0100 a0037c0101	a0001c0001t0002 a0001c0001t0039 a0001c0002t0028 others(69): Show a0001c0001t0002 a0001c0001t0039 a0001c0002t0028 a0001c0004t0020 a0001c0004t0063 a0001c0007t0001 a0001c0007t0032 a0001c0017t0005 a0001c0019t0078 a0001c0021t0005 a0001c0026t0006 a0001c0039t0066 a0001c0040t0019 a0001c0046t0073 a0001c0047t0014 a0001c0049t0002 a0001c0050t0053 a0001c0061t0001 a0001c0068t0015 a0001c0085t0020 a0001c0093t0009 a0001c0094t0002 a0001c0102t0005 a0001c0111t0045 a0001c0114t0003 a0001c0115t0042 a0002c0031t0015 a0002c0035t0047 a0002c0041t0027 a0002c0048t0013 a0002c0051t0006 a0002c0053t0022 a0002c0060t0006 a0002c0070t0046 a0002c0072t0003 a0002c0078t0044 a0002c0089t0001 a0002c0091t0002 a0002c0092t0001 a0003c0014t0055 a0003c0034t0030 a0003c0057t0080 a0003c0058t0057 a0004c0056t0062 a0004c0099t0014 a0005c0107t0068 a0006c0083t0004 a0006c0116t0004 a0007c0029t0011 a0007c0088t0076 a0008c0008t0082 a0008c0067t0059 a0009c0113t0011 a0010c0112t0081 a0012c0104t0071 a0013c0027t0003 a0014c0010t0070 a0015c0062t0056 a0016c0063t0010 a0018c0044t0064 a0019c0018t0058 a0021c0016t0048 a0023c0095t0002 a0028c0097t0018 a0029c0028t0024 a0031c0069t0043 a0032c0011t0065 a0033c0042t0004 a0034c0055t0034 a0035c0098t0025 a0036c0100t0017 a0037c0101t0008	a0001c0001t0002g0125 a0001c0001t0039g0017 a0001c0002t0028g0005 others(69): Show a0001c0001t0002g0125 a0001c0001t0039g0017 a0001c0002t0028g0005 a0001c0004t0020g0086 a0001c0004t0063g0095 a0001c0007t0001g0035 a0001c0007t0032g0033 a0001c0017t0005g0003 a0001c0019t0078g0105 a0001c0021t0005g0012 a0001c0026t0006g0093 a0001c0039t0066g0080 a0001c0040t0019g0123 a0001c0046t0073g0091 a0001c0047t0014g0024 a0001c0049t0002g0071 a0001c0050t0053g0120 a0001c0061t0001g0021 a0001c0068t0015g0049 a0001c0085t0020g0060 a0001c0093t0009g0007 a0001c0094t0002g0110 a0001c0102t0005g0034 a0001c0111t0045g0063 a0001c0114t0003g0119 a0001c0115t0042g0055 a0002c0031t0015g0001 a0002c0035t0047g0076 a0002c0041t0027g0018 a0002c0048t0013g0015 a0002c0051t0006g0081 a0002c0053t0022g0041 a0002c0060t0006g0094 a0002c0070t0046g0092 a0002c0072t0003g0066 a0002c0078t0044g0064 a0002c0089t0001g0037 a0002c0091t0002g0114 a0002c0092t0001g0011 a0003c0014t0055g0056 a0003c0034t0030g0038 a0003c0057t0080g0075 a0003c0058t0057g0117 a0004c0056t0062g0072 a0004c0099t0014g0020 a0005c0107t0068g0073 a0006c0083t0004g0006 a0006c0116t0004g0039 a0007c0029t0011g0054 a0007c0088t0076g0057 a0008c0008t0082g0126 a0008c0067t0059g0079 a0009c0113t0011g0043 a0010c0112t0081g0090 a0012c0104t0071g0058 a0013c0027t0003g0099 a0014c0010t0070g0084 a0015c0062t0056g0062 a0016c0063t0010g0045 a0018c0044t0064g0085 a0019c0018t0058g0068 a0021c0016t0048g0106 a0023c0095t0002g0124 a0028c0097t0018g0089 a0029c0028t0024g0040 a0031c0069t0043g0100 a0032c0011t0065g0101 a0033c0042t0004g0004 a0034c0055t0034g0047 a0035c0098t0025g0019 a0036c0100t0017g0121 a0037c0101t0008g0023	72	126	0.5714	-19	c.382 others(36): Show c.3823+242_3824-231delATTATTAGAATTATCACAT		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	24/69						chr8	TogoVar
CSMD1_chr8_2930361_4999914	3494561	TAGATAGA others(12): Show TAGATAGATAGATAGATAGA	T T	intron_variant intron_variant	MODIFIER	HG02723.hp1 NA19043.hp1 HG02723.hp1 NA19043.hp1	a0001 a0024 a0001 a0024	a0001c0093 a0024c0038 a0001c0093 a0024c0038	a0001c0093t0009 a0024c0038t0075 a0001c0093t0009 a0024c0038t0075	a0001c0093t0009g0007 a0024c0038t0075g0067 a0001c0093t0009g0007 a0024c0038t0075g0067	2	126	0.0159	-19	c.134 others(36): Show c.1345-854_1345-836delTCTATCTATCTATCTATCT		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	10/69						chr8	TogoVar
CSMD1_chr8_2930361_4999914	3511763	ATAACATA others(12): Show ATAACATAACATAACATAAC	A A	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0027 a0027	a0027c0023 a0027c0023	a0027c0023t0001 a0027c0023t0001	a0027c0023t0001g0052 a0027c0023t0001g0052	1	126	0.0079	-19	c.134 others(40): Show c.1345-18056_1345-18038delGTTATGTTATGTTATGTTA		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	10/69						chr8	TogoVar
CSMD1_chr8_2930361_4999914	3684119	TATAATTT others(12): Show TATAATTTATATAATATATA	T T	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0002 a0002	a0002c0041 a0002c0041	a0002c0041t0027 a0002c0041t0027	a0002c0041t0027g0018 a0002c0041t0027g0018	1	126	0.0079	-19	c.100 others(40): Show c.1009+24276_1009+24294delTATATATTATATAAATTAT		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	7/69						chr8	TogoVar
CSMD1_chr8_2930361_4999914	3729943	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01074.hp2 HG03669.hp2 others(2): Show HG00099.hp2 HG01074.hp2 HG03669.hp2 NA18971.hp1 NA19060.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0005 a0002c0048 others(2): Show a0001c0001 a0001c0005 a0002c0048 a0002c0077 a0004c0056	a0001c0001t0039 a0001c0005t0007 a0002c0048t0013 others(2): Show a0001c0001t0039 a0001c0005t0007 a0002c0048t0013 a0002c0077t0001 a0004c0056t0062	a0001c0001t0039g0017 a0001c0005t0007g0070 a0002c0048t0013g0015 others(2): Show a0001c0001t0039g0017 a0001c0005t0007g0070 a0002c0048t0013g0015 a0002c0077t0001g0016 a0004c0056t0062g0072	5	126	0.0397	-19	c.932 others(38): Show c.932-21471_932-21453delGTTTTTTTTTTTTTTTTTT		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	6/69						chr8	TogoVar
CSMD1_chr8_2930361_4999914	3789390	GTTTTTTT others(12): Show GTTTTTTTTTTTAAGTAAGT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01071.hp1 HG01081.hp1 others(16): Show HG00099.hp1 HG01071.hp1 HG01081.hp1 HG01123.hp2 HG01243.hp1 HG01261.hp2 HG01934.hp1 HG02572.hp1 HG02723.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03710.hp1 HG03834.hp1 HG04204.hp1 HG04228.hp1 NA18983.hp2 NA19030.hp1 NA20129.hp2	a0001 a0002 a0004 others(9): Show a0001 a0002 a0004 a0005 a0006 a0009 a0016 a0017 a0019 a0028 a0033 a0034	a0001c0001 a0001c0003 a0001c0006 others(15): Show a0001c0001 a0001c0003 a0001c0006 a0001c0019 a0001c0105 a0001c0111 a0002c0041 a0004c0087 a0005c0064 a0005c0065 a0006c0116 a0009c0113 a0016c0063 a0017c0106 a0019c0018 a0028c0097 a0033c0042 a0034c0055	a0001c0001t0002 a0001c0003t0008 a0001c0003t0019 others(16): Show a0001c0001t0002 a0001c0003t0008 a0001c0003t0019 a0001c0006t0060 a0001c0019t0078 a0001c0105t0001 a0001c0111t0045 a0002c0041t0027 a0004c0087t0001 a0005c0064t0051 a0005c0065t0023 a0006c0116t0004 a0009c0113t0011 a0016c0063t0010 a0017c0106t0012 a0019c0018t0058 a0028c0097t0018 a0033c0042t0004 a0034c0055t0034	a0001c0001t0002g0125 a0001c0003t0008g0053 a0001c0003t0019g0107 others(16): Show a0001c0001t0002g0125 a0001c0003t0008g0053 a0001c0003t0019g0107 a0001c0006t0060g0103 a0001c0019t0078g0105 a0001c0105t0001g0029 a0001c0111t0045g0063 a0002c0041t0027g0018 a0004c0087t0001g0022 a0005c0064t0051g0078 a0005c0065t0023g0050 a0006c0116t0004g0039 a0009c0113t0011g0043 a0016c0063t0010g0045 a0017c0106t0012g0042 a0019c0018t0058g0068 a0028c0097t0018g0089 a0033c0042t0004g0004 a0034c0055t0034g0047	19	126	0.1508	-19	c.819 others(38): Show c.819-35367_819-35349delACTTACTTAAAAAAAAAAA		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69						chr8	TogoVar
CSMD1_chr8_2930361_4999914	3795138	GATATCTA others(12): Show GATATCTATCATGTACAGCT	G G	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02257.hp1 HG02886.hp2 others(3): Show HG01123.hp1 HG02257.hp1 HG02886.hp2 NA18522.hp2 NA18982.hp1 NA19060.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0007 a0008	a0001c0007 a0002c0072 a0002c0078 others(3): Show a0001c0007 a0002c0072 a0002c0078 a0004c0086 a0007c0088 a0008c0008	a0001c0007t0001 a0002c0072t0003 a0002c0078t0044 others(3): Show a0001c0007t0001 a0002c0072t0003 a0002c0078t0044 a0004c0086t0002 a0007c0088t0076 a0008c0008t0082	a0001c0007t0001g0035 a0002c0072t0003g0066 a0002c0078t0044g0064 others(3): Show a0001c0007t0001g0035 a0002c0072t0003g0066 a0002c0078t0044g0064 a0004c0086t0002g0118 a0007c0088t0076g0057 a0008c0008t0082g0126	6	126	0.0476	-19	c.819 others(38): Show c.819-41115_819-41097delAGCTGTACATGATAGATAT		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69						chr8	TogoVar
CSMD1_chr8_2930361_4999914	3795161	GATACCTA others(12): Show GATACCTATCATGTACAGCT	G G	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02056.hp2 HG02074.hp2 others(5): Show HG01255.hp1 HG02056.hp2 HG02074.hp2 HG02486.hp1 HG02965.hp1 HG04228.hp2 NA18979.hp1 NA18984.hp2	a0001 a0002 a0030 others(1): Show a0001 a0002 a0030 a0037	a0001c0003 a0001c0071 a0002c0012 others(5): Show a0001c0003 a0001c0071 a0002c0012 a0002c0031 a0002c0036 a0002c0091 a0030c0052 a0037c0101	a0001c0003t0013 a0001c0071t0069 a0002c0012t0017 others(5): Show a0001c0003t0013 a0001c0071t0069 a0002c0012t0017 a0002c0031t0015 a0002c0036t0029 a0002c0091t0002 a0030c0052t0049 a0037c0101t0008	a0001c0003t0013g0026 a0001c0071t0069g0115 a0002c0012t0017g0088 others(5): Show a0001c0003t0013g0026 a0001c0071t0069g0115 a0002c0012t0017g0088 a0002c0031t0015g0001 a0002c0036t0029g0009 a0002c0091t0002g0114 a0030c0052t0049g0098 a0037c0101t0008g0023	8	126	0.0635	-19	c.819 others(38): Show c.819-41138_819-41120delAGCTGTACATGATAGGTAT		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69						chr8	TogoVar
CSMD1_chr8_2930361_4999914	3795356	CTATCATG others(12): Show CTATCATGTATATAGATATA	C C	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0061 a0001c0002t0061	a0001c0002t0061g0069 a0001c0002t0061g0069	1	126	0.0079	-19	c.819 others(38): Show c.819-41333_819-41315delTATATCTATATACATGATA		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69						chr8	TogoVar
CSMD1_chr8_2930361_4999914	3795588	TAGATATA others(12): Show TAGATATAGATATATATCTA	T T	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0021 a0021	a0021c0016 a0021c0016	a0021c0016t0048 a0021c0016t0048	a0021c0016t0048g0106 a0021c0016t0048g0106	1	126	0.0079	-19	c.819 others(38): Show c.819-41565_819-41547delTAGATATATATCTATATCT		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69						chr8	TogoVar
CSMD1_chr8_2930361_4999914	3795946	TCTATCAT others(12): Show TCTATCATGTACAGATATAG	T T	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0015 a0015	a0015c0062 a0015c0062	a0015c0062t0056 a0015c0062t0056	a0015c0062t0056g0062 a0015c0062t0056g0062	1	126	0.0079	-19	c.819 others(38): Show c.819-41923_819-41905delCTATATCTGTACATGATAG		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69						chr8	TogoVar
CSMD1_chr8_2930361_4999914	3796187	TAGATATA others(12): Show TAGATATAGATATATATCTA	T T	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02280.hp2 HG02451.hp1 others(6): Show HG01081.hp2 HG02280.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02622.hp1 HG02965.hp2 HG03540.hp1 NA20129.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0014 a0038	a0001c0004 a0002c0015 a0002c0030 others(6): Show a0001c0004 a0002c0015 a0002c0030 a0002c0051 a0002c0070 a0003c0034 a0005c0107 a0014c0010 a0038c0066	a0001c0004t0020 a0002c0015t0021 a0002c0030t0016 others(6): Show a0001c0004t0020 a0002c0015t0021 a0002c0030t0016 a0002c0051t0006 a0002c0070t0046 a0003c0034t0030 a0005c0107t0068 a0014c0010t0070 a0038c0066t0010	a0001c0004t0020g0086 a0002c0015t0021g0008 a0002c0030t0016g0122 others(6): Show a0001c0004t0020g0086 a0002c0015t0021g0008 a0002c0030t0016g0122 a0002c0051t0006g0081 a0002c0070t0046g0092 a0003c0034t0030g0038 a0005c0107t0068g0073 a0014c0010t0070g0084 a0038c0066t0010g0032	9	126	0.0714	-19	c.819 others(38): Show c.819-42164_819-42146delTAGATATATATCTATATCT		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69						chr8	TogoVar
CSMD1_chr8_2930361_4999914	3796270	TATATATC others(12): Show TATATATCTATCATGTATAG	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02280.hp2 HG02451.hp1 others(6): Show HG01081.hp2 HG02280.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02622.hp1 HG02965.hp2 HG03540.hp1 NA20129.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0014 a0038	a0001c0004 a0002c0015 a0002c0030 others(6): Show a0001c0004 a0002c0015 a0002c0030 a0002c0051 a0002c0070 a0003c0034 a0005c0107 a0014c0010 a0038c0066	a0001c0004t0020 a0002c0015t0021 a0002c0030t0016 others(6): Show a0001c0004t0020 a0002c0015t0021 a0002c0030t0016 a0002c0051t0006 a0002c0070t0046 a0003c0034t0030 a0005c0107t0068 a0014c0010t0070 a0038c0066t0010	a0001c0004t0020g0086 a0002c0015t0021g0008 a0002c0030t0016g0122 others(6): Show a0001c0004t0020g0086 a0002c0015t0021g0008 a0002c0030t0016g0122 a0002c0051t0006g0081 a0002c0070t0046g0092 a0003c0034t0030g0038 a0005c0107t0068g0073 a0014c0010t0070g0084 a0038c0066t0010g0032	9	126	0.0714	-19	c.819 others(43): Show c.819-42247_819-42228delCTATACATGATAGATATATAinsG		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69						chr8	TogoVar
CSMD1_chr8_2930361_4999914	3796270	TATATATC others(12): Show TATATATCTATCATGTATAG	T T	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0032 a0032	a0032c0011 a0032c0011	a0032c0011t0065 a0032c0011t0065	a0032c0011t0065g0101 a0032c0011t0065g0101	1	126	0.0079	-19	c.819 others(38): Show c.819-42247_819-42229delCTATACATGATAGATATAT		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69						chr8	TogoVar
CSMD1_chr8_2930361_4999914	3796364	GATATCTA others(12): Show GATATCTATCATGTATATAT	G G	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG01123.hp1 others(22): Show HG00438.hp1 HG00438.hp2 HG01123.hp1 HG01255.hp1 HG01261.hp1 HG01934.hp2 HG02056.hp2 HG02074.hp2 HG02257.hp2 HG02486.hp1 HG02572.hp2 HG02723.hp1 HG02886.hp2 HG02922.hp2 HG02965.hp1 HG03098.hp1 HG03130.hp2 HG03516.hp1 HG04228.hp2 NA18522.hp2 NA18979.hp1 NA18982.hp2 NA19060.hp2 NA19090.hp2 NA19240.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0007 a0008 a0018 a0024 a0030 a0031 a0037	a0001c0002 a0001c0005 a0001c0071 others(22): Show a0001c0002 a0001c0005 a0001c0071 a0001c0081 a0001c0085 a0001c0094 a0001c0108 a0002c0012 a0002c0031 a0002c0036 a0002c0048 a0002c0072 a0002c0075 a0002c0078 a0002c0091 a0002c0092 a0003c0014 a0004c0099 a0007c0029 a0008c0008 a0018c0044 a0024c0038 a0030c0052 a0031c0069 a0037c0101	a0001c0002t0028 a0001c0005t0002 a0001c0071t0069 others(22): Show a0001c0002t0028 a0001c0005t0002 a0001c0071t0069 a0001c0081t0037 a0001c0085t0020 a0001c0094t0002 a0001c0108t0054 a0002c0012t0017 a0002c0031t0015 a0002c0036t0029 a0002c0048t0013 a0002c0072t0003 a0002c0075t0026 a0002c0078t0044 a0002c0091t0002 a0002c0092t0001 a0003c0014t0055 a0004c0099t0014 a0007c0029t0011 a0008c0008t0082 a0018c0044t0064 a0024c0038t0075 a0030c0052t0049 a0031c0069t0043 a0037c0101t0008	a0001c0002t0028g0005 a0001c0005t0002g0111 a0001c0071t0069g0115 others(22): Show a0001c0002t0028g0005 a0001c0005t0002g0111 a0001c0071t0069g0115 a0001c0081t0037g0030 a0001c0085t0020g0060 a0001c0094t0002g0110 a0001c0108t0054g0074 a0002c0012t0017g0088 a0002c0031t0015g0001 a0002c0036t0029g0009 a0002c0048t0013g0015 a0002c0072t0003g0066 a0002c0075t0026g0051 a0002c0078t0044g0064 a0002c0091t0002g0114 a0002c0092t0001g0011 a0003c0014t0055g0056 a0004c0099t0014g0020 a0007c0029t0011g0054 a0008c0008t0082g0126 a0018c0044t0064g0085 a0024c0038t0075g0067 a0030c0052t0049g0098 a0031c0069t0043g0100 a0037c0101t0008g0023	25	126	0.1984	-19	c.819 others(38): Show c.819-42341_819-42323delATATATACATGATAGATAT		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69						chr8	TogoVar
CSMD1_chr8_2930361_4999914	3817252	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02055.hp2 HG06807.hp1 others(2): Show HG00423.hp2 HG02055.hp2 HG06807.hp1 NA18906.hp1 NA19030.hp2	a0002 a0003 a0012 a0002 a0003 a0012	a0002c0032 a0002c0035 a0002c0089 others(2): Show a0002c0032 a0002c0035 a0002c0089 a0003c0057 a0012c0104	a0002c0032t0050 a0002c0035t0047 a0002c0089t0001 others(2): Show a0002c0032t0050 a0002c0035t0047 a0002c0089t0001 a0003c0057t0080 a0012c0104t0071	a0002c0032t0050g0061 a0002c0035t0047g0076 a0002c0089t0001g0037 others(2): Show a0002c0032t0050g0061 a0002c0035t0047g0076 a0002c0089t0001g0037 a0003c0057t0080g0075 a0012c0104t0071g0058	5	126	0.0397	-19	c.819 others(38): Show c.819-63229_819-63211delAAAAAAAAAAAAAAAAAAA		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69						chr8	TogoVar
CSMD1_chr8_2930361_4999914	4201540	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0046 a0001c0046	a0001c0046t0073 a0001c0046t0073	a0001c0046t0073g0091 a0001c0046t0073g0091	1	126	0.0079	-19	c.416 others(40): Show c.416-169460_416-169442delTTTTTTTTTTTTTTTTTTT		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69						chr8	TogoVar
CSMD1_chr8_2930361_4999914	4402802	TTTTTTTT others(12): Show TTTTTTTTTTTTTTTTTTTC	T T	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01255.hp1 HG01934.hp2 HG01081.hp1 HG01255.hp1 HG01934.hp2	a0002 a0004 a0019 a0002 a0004 a0019	a0002c0031 a0004c0099 a0019c0018 a0002c0031 a0004c0099 a0019c0018	a0002c0031t0015 a0004c0099t0014 a0019c0018t0058 a0002c0031t0015 a0004c0099t0014 a0019c0018t0058	a0002c0031t0015g0001 a0004c0099t0014g0020 a0019c0018t0058g0068 a0002c0031t0015g0001 a0004c0099t0014g0020 a0019c0018t0058g0068	3	126	0.0238	-19	c.415 others(38): Show c.415+17132_415+17150delGAAAAAAAAAAAAAAAAAA		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69						chr8	TogoVar
CSMD1_chr8_2930361_4999914	4455929	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02572.hp1 HG02622.hp1 others(4): Show HG01884.hp1 HG02572.hp1 HG02622.hp1 HG03139.hp2 HG03225.hp2 NA18522.hp1 NA19043.hp1	a0001 a0002 a0027 others(1): Show a0001 a0002 a0027 a0033	a0001c0025 a0001c0033 a0001c0046 others(4): Show a0001c0025 a0001c0033 a0001c0046 a0001c0093 a0002c0030 a0027c0023 a0033c0042	a0001c0025t0003 a0001c0033t0003 a0001c0046t0073 others(4): Show a0001c0025t0003 a0001c0033t0003 a0001c0046t0073 a0001c0093t0009 a0002c0030t0016 a0027c0023t0001 a0033c0042t0004	a0001c0025t0003g0077 a0001c0033t0003g0059 a0001c0046t0073g0091 others(4): Show a0001c0025t0003g0077 a0001c0033t0003g0059 a0001c0046t0073g0091 a0001c0093t0009g0007 a0002c0030t0016g0122 a0027c0023t0001g0052 a0033c0042t0004g0004	7	126	0.0556	-19	c.303 others(38): Show c.303-35883_303-35865delTTTTTTTTTTTTTTTTTTT		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	2/69						chr8	TogoVar
CSMD1_chr8_2930361_4999914	4484980	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02622.hp2 NA18522.hp1 others(2): Show HG01884.hp1 HG02622.hp2 NA18522.hp1 NA20129.hp1 NA20129.hp2	a0001 a0010 a0014 others(1): Show a0001 a0010 a0014 a0027	a0001c0046 a0001c0111 a0010c0112 others(2): Show a0001c0046 a0001c0111 a0010c0112 a0014c0010 a0027c0023	a0001c0046t0073 a0001c0111t0045 a0010c0112t0081 others(2): Show a0001c0046t0073 a0001c0111t0045 a0010c0112t0081 a0014c0010t0070 a0027c0023t0001	a0001c0046t0073g0091 a0001c0111t0045g0063 a0010c0112t0081g0090 others(2): Show a0001c0046t0073g0091 a0001c0111t0045g0063 a0010c0112t0081g0090 a0014c0010t0070g0084 a0027c0023t0001g0052	5	126	0.0397	-19	c.303 others(38): Show c.303-64934_303-64916delTTTTTTTTTTTTTTTTTTT		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	2/69						chr8	TogoVar
CSMD1_chr8_2930361_4999914	4707886	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02559.hp2 HG01081.hp2 HG02559.hp2	a0001 a0005 a0001 a0005	a0001c0043 a0005c0107 a0001c0043 a0005c0107	a0001c0043t0031 a0005c0107t0068 a0001c0043t0031 a0005c0107t0068	a0001c0043t0031g0044 a0005c0107t0068g0073 a0001c0043t0031g0044 a0005c0107t0068g0073	2	126	0.0159	-19	c.86- others(36): Show c.86-70347_86-70329delTTTTTTTTTTTTTTTTTTT		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	1/69						chr8	TogoVar
CSMD1_chr8_2930361_4999914	4742000	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02622.hp2 HG02723.hp1 others(1): Show HG02258.hp1 HG02622.hp2 HG02723.hp1 HG03139.hp1	a0001 a0002 a0010 others(1): Show a0001 a0002 a0010 a0024	a0001c0114 a0002c0074 a0010c0112 others(1): Show a0001c0114 a0002c0074 a0010c0112 a0024c0038	a0001c0114t0003 a0002c0074t0041 a0010c0112t0081 others(1): Show a0001c0114t0003 a0002c0074t0041 a0010c0112t0081 a0024c0038t0075	a0001c0114t0003g0119 a0002c0074t0041g0031 a0010c0112t0081g0090 others(1): Show a0001c0114t0003g0119 a0002c0074t0041g0031 a0010c0112t0081g0090 a0024c0038t0075g0067	4	126	0.0318	-19	c.86- others(38): Show c.86-104461_86-104443delAAAAAAAAAAAAAAAAAAA		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	1/69						chr8	TogoVar
CSMD2_chr1_33508998_34170230	34102616	AACCATAT others(12): Show AACCATATCCCTGTAATCCG	A A	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02922.hp1 HG02809.hp1 HG02922.hp1	a0001 a0023 a0001 a0023	a0001c0026 a0023c0017 a0001c0026 a0023c0017	a0001c0026t0003 a0023c0017t0016 a0001c0026t0003 a0023c0017t0016	a0001c0026t0003g0035 a0023c0017t0016g0066 a0001c0026t0003g0035 a0023c0017t0016g0066	2	66	0.0303	-19	c.188 others(38): Show c.188-13442_188-13424delCGGATTACAGGGATATGGT		CSMD2	ENSG00000121904.19	transcript	ENST00000373381.9	protein_coding	1/70						chr1	TogoVar
CSMD3_chr8_112217928_113441939	112525886	ATATATAT others(12): Show ATATATATATTTTATATATG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0002 a0002	a0002c0032 a0002c0032	a0002c0032t0001 a0002c0032t0001	a0002c0032t0001g0079 a0002c0032t0001g0079	1	80	0.0125	-19	c.456 others(38): Show c.4565-8680_4565-8662delCATATATAAAATATATATA		CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	27/70						chr8	TogoVar
CSMD3_chr8_112217928_113441939	112747183	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0004 a0001c0021t0004	a0001c0021t0004g0037 a0001c0021t0004g0037	1	80	0.0125	-19	c.197 others(40): Show c.1972+52960_1972+52978delAAAAAAAAAAAAAAAAAAA		CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	13/70						chr8	TogoVar
CSNK1A1_chr5_149487982_149556439	149499949	GGTTTTTT others(12): Show GGTTTTTTTTCTTTTTTTCT	G G	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0106 a0001c0001t0019g0106	1	390	0.0026	-19	c.100 others(38): Show c.1007-3108_1007-3090delAGAAAAAAAGAAAAAAAAC		CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	9/9						chr5	TogoVar
CSNK1A1_chr5_149487982_149556439	149499950	GTTTTTTT others(12): Show GTTTTTTTTCTTTTTTTCTT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp1 HG00558.hp2 others(87): Show HG00140.hp1 HG00423.hp1 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG00673.hp2 HG00741.hp1 HG01099.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp2 HG01346.hp1 HG01358.hp2 HG01361.hp1 HG01515.hp2 HG01516.hp1 HG01884.hp2 HG01934.hp2 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02056.hp2 HG02074.hp2 HG02129.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02523.hp1 HG02683.hp2 HG02922.hp1 HG03139.hp1 HG03209.hp1 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp2 HG03654.hp2 HG03704.hp1 HG03831.hp1 HG03831.hp2 HG03927.hp2 HG06807.hp2 NA18612.hp1 NA18747.hp1 NA18939.hp2 NA18940.hp1 NA18944.hp1 NA18945.hp2 NA18946.hp2 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18961.hp1 NA18966.hp2 NA18968.hp2 NA18973.hp1 NA18975.hp1 NA18978.hp1 NA18989.hp2 NA18991.hp1 NA18993.hp2 NA18994.hp1 NA18998.hp2 NA19000.hp1 NA19003.hp1 NA19006.hp2 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19012.hp1 NA19063.hp1 NA19064.hp2 NA19065.hp2 NA19068.hp1 NA19070.hp1 NA19074.hp2 NA19079.hp2 NA19084.hp2 NA19086.hp1 NA19089.hp2 NA19240.hp1 NA20300.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0012 a0001c0001t0017 others(10): Show a0001c0001t0001 a0001c0001t0012 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0026 a0001c0001t0028 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0052 a0001c0003t0030	a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0015 others(86): Show a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0218 a0001c0001t0001g0320 a0001c0001t0012g0027 a0001c0001t0012g0032 a0001c0001t0012g0058 a0001c0001t0012g0083 a0001c0001t0012g0084 a0001c0001t0017g0026 a0001c0001t0017g0078 a0001c0001t0017g0079 a0001c0001t0018g0044 a0001c0001t0018g0062 a0001c0001t0019g0017 a0001c0001t0019g0049 a0001c0001t0026g0010 a0001c0001t0026g0098 a0001c0001t0028g0329 a0001c0001t0028g0330 a0001c0001t0037g0036 a0001c0001t0038g0028 a0001c0001t0039g0052 a0001c0001t0040g0029 a0001c0001t0052g0328 a0001c0003t0030g0007	90	390	0.2308	-19	c.100 others(38): Show c.1007-3109_1007-3091delAAGAAAAAAAGAAAAAAAA		CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	9/9						chr5	TogoVar
CSNK1G1_chr15_64160525_64361173	64255266	GAGGTTTT others(12): Show GAGGTTTTACCATATTGGCC	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02809.hp1 HG02818.hp1 others(2): Show HG02055.hp1 HG02809.hp1 HG02818.hp1 HG03453.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0031 a0001c0001t0009 a0001c0001t0031	a0001c0001t0009g0002 a0001c0001t0009g0003 a0001c0001t0009g0004 others(2): Show a0001c0001t0009g0002 a0001c0001t0009g0003 a0001c0001t0009g0004 a0001c0001t0009g0005 a0001c0001t0031g0124	5	176	0.0284	-19	c.223 others(36): Show c.223-3704_223-3686delGGCCAATATGGTAAAACCT		CSNK1G1	ENSG00000169118.18	transcript	ENST00000303052.13	protein_coding	3/11						chr15	TogoVar
CSNK2A1_chr20_467498_548790	485096	AAAAAAAA others(12): Show AAAAAAAAAAAAAAATATAT	A A	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0067 a0001c0001t0067	a0001c0001t0067g0117 a0001c0001t0067g0117	1	316	0.0032	-19	c.106 others(38): Show c.1061-1039_1061-1021delATATATTTTTTTTTTTTTT		CSNK2A1	ENSG00000101266.19	transcript	ENST00000217244.9	protein_coding	13/13						chr20	TogoVar
CSNK2A2_chr16_58152907_58203106	58155744	ATGGGGTG others(12): Show ATGGGGTGTGTGTGTGTGTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	400	0.0025	-19	c.26 others(30): Show c.2608_*2626delCACACACACACACACCCCA		CSNK2A2	ENSG00000070770.10	transcript	ENST00000262506.8	protein_coding					2162		chr16	TogoVar
CSNK2A2_chr16_58152907_58203106	58171973	ATATATAT others(12): Show ATATATATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0123 a0001c0002t0001g0123	1	400	0.0025	-19	c.429 others(36): Show c.429+2459_429+2477delAAAAAAAAAAAAATATATA		CSNK2A2	ENSG00000070770.10	transcript	ENST00000262506.8	protein_coding	5/11						chr16	TogoVar
CSRNP1_chr3_39136855_39158591	39148819	CATGGAGG others(12): Show CATGGAGGCCACGTGGCCGT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(205): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01070.hp2 HG01071.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02148.hp1 HG02155.hp1 HG02165.hp2 HG02280.hp1 HG02300.hp2 HG02451.hp1 HG02523.hp2 HG02559.hp1 HG02602.hp1 HG02698.hp1 HG02723.hp1 HG02735.hp2 HG02738.hp1 HG02922.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03130.hp1 HG03209.hp2 HG03239.hp2 HG03490.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp1 HG06807.hp1 NA18612.hp2 NA18747.hp2 NA18941.hp1 NA18941.hp2 NA18945.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18963.hp2 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18971.hp1 NA18972.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp2 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18985.hp2 NA18986.hp2 NA18987.hp2 NA18989.hp1 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18998.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19043.hp1 NA19054.hp2 NA19055.hp2 NA19060.hp2 NA19062.hp1 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19066.hp1 NA19068.hp1 NA19070.hp1 NA19076.hp1 NA19076.hp2 NA19078.hp1 NA19079.hp1 NA19080.hp1 NA19081.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp2 NA19088.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0007 a0008 a0009	a0001c0001 a0001c0002 a0001c0005 others(11): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0007 a0001c0012 a0001c0013 a0002c0003 a0002c0008 a0002c0010 a0004c0014 a0007c0017 a0008c0016 a0009c0019	a0001c0001t0001 a0001c0001t0012 a0001c0001t0013 others(14): Show a0001c0001t0001 a0001c0001t0012 a0001c0001t0013 a0001c0002t0003 a0001c0002t0008 a0001c0005t0001 a0001c0006t0003 a0001c0007t0003 a0001c0012t0001 a0001c0013t0001 a0002c0003t0002 a0002c0008t0002 a0002c0010t0002 a0004c0014t0001 a0007c0017t0003 a0008c0016t0001 a0009c0019t0003	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0012 others(55): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0001g0035 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0119 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0012g0124 a0001c0001t0013g0125 a0001c0002t0003g0010 a0001c0002t0003g0050 a0001c0002t0003g0108 a0001c0002t0003g0132 a0001c0002t0003g0143 a0001c0002t0008g0048 a0001c0005t0001g0011 a0001c0005t0001g0104 a0001c0005t0001g0111 a0001c0005t0001g0117 a0001c0005t0001g0128 a0001c0006t0003g0007 a0001c0006t0003g0039 a0001c0006t0003g0047 a0001c0006t0003g0062 a0001c0006t0003g0114 a0001c0007t0003g0023 a0001c0007t0003g0024 a0001c0007t0003g0134 a0001c0012t0001g0118 a0001c0013t0001g0122 a0002c0003t0002g0006 a0002c0003t0002g0121 a0002c0003t0002g0131 a0002c0008t0002g0140 a0002c0010t0002g0112 a0002c0010t0002g0127 a0004c0014t0001g0120 a0007c0017t0003g0129 a0008c0016t0001g0116 a0009c0019t0003g0130	208	430	0.4837	-19	c.-40 others(36): Show c.-40-2116_-40-2098delACGGCCACGTGGCCTCCAT		CSRNP1	ENSG00000144655.15	transcript	ENST00000273153.10	protein_coding	1/4						chr3	TogoVar
CSRNP3_chr2_165464698_165694407	165520770	TTATATAT others(12): Show TTATATATATATATTATATA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG02280.hp1 HG00280.hp2 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0090 a0001c0002t0006 a0001c0001t0090 a0001c0002t0006	a0001c0001t0090g0069 a0001c0002t0006g0041 a0001c0001t0090g0069 a0001c0002t0006g0041	2	246	0.0081	-19	c.-24 others(36): Show c.-24+2823_-24+2841delTATATATATATATATATAT		CSRNP3	ENSG00000178662.16	transcript	ENST00000651982.1	protein_coding	3/6					INFO_REALIGN_3_PRIME	chr2	TogoVar
CSRNP3_chr2_165464698_165694407	165653972	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0008	1	246	0.0041	-19	c.149 others(36): Show c.149-3771_149-3753delAAAAAAAAAAAAAAAAAAA		CSRNP3	ENSG00000178662.16	transcript	ENST00000651982.1	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr2	TogoVar
CSTF2T_chr10_51690486_51704595	51697927	TCCTCCTT others(12): Show TCCTCCTTGTATACTGACTC	T T	frameshift_variant frameshift_variant	HIGH	HG01069.hp1 HG01069.hp1	a0004 a0004	a0004c0021 a0004c0021	a0004c0021t0001 a0004c0021t0001	a0004c0021t0001g0000 a0004c0021t0001g0000	1	428	0.0023	-19	c.160 others(28): Show c.1604_1622delGAGTCAGTATACAAGGAGG	p.Gly others(5): Show p.Gly535fs	CSTF2T	ENSG00000177613.9	transcript	ENST00000331173.6	protein_coding	1/1	1668/4110	1604/1851	535/616			chr10	TogoVar
CSTF3_chr11_33079584_33166480	33163921	ATATATTT others(12): Show ATATATTTTTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0029 a0001c0001t0002g0029	1	360	0.0028	-19	c.-26 others(30): Show c.-2615_-2597delAAAAAAAAAAAAAAATATA		CSTF3	ENSG00000176102.13	transcript	ENST00000323959.9	protein_coding					2442		chr11	TogoVar
CSTF3_chr11_33079584_33166480	33163923	ATATTTTT others(12): Show ATATTTTTTTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 NA18953.hp1 NA18970.hp2 HG03209.hp1 NA18953.hp1 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0258 a0001c0001t0002g0075 a0001c0001t0002g0093 a0001c0001t0001g0258 a0001c0001t0002g0075 a0001c0001t0002g0093	3	360	0.0083	-19	c.-26 others(30): Show c.-2617_-2599delAAAAAAAAAAAAAAAAATA		CSTF3	ENSG00000176102.13	transcript	ENST00000323959.9	protein_coding					2444		chr11	TogoVar
CTBP2_chr10_124979317_125033071	124982018	GAGCATCG others(12): Show GAGCATCGCAAGTATAGATT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG02965.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp1	a0002 a0006 a0002 a0006	a0002c0002 a0006c0007 a0002c0002 a0006c0007	a0002c0002t0032 a0006c0007t0032 a0002c0002t0032 a0006c0007t0032	a0002c0002t0032g0222 a0002c0002t0032g0223 a0006c0007t0032g0301 a0002c0002t0032g0222 a0002c0002t0032g0223 a0006c0007t0032g0301	3	380	0.0079	-19	c.74 others(30): Show c.7481_*7499delAATCTATACTTGCGATGCT		CTBP2	ENSG00000175029.17	transcript	ENST00000309035.11	protein_coding					2298		chr10	TogoVar
CTBP2_chr10_124979317_125033071	124999934	GGCTGGCT others(12): Show GGCTGGCTCGGCAGTGCTGC	G G	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	380	0.0026	-19	c.197 others(38): Show c.1979-1783_1979-1765delGCAGCACTGCCGAGCCAGC		CTBP2	ENSG00000175029.17	transcript	ENST00000309035.11	protein_coding	3/8						chr10	TogoVar
CTC1_chr17_8219815_8253056	8237665	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0093 a0001c0002t0012g0093	1	402	0.0025	-19	c.648 others(34): Show c.648-165_648-147delTTTTTTTTTTTTTTTTTTT		CTC1	ENSG00000178971.17	transcript	ENST00000651323.1	protein_coding	4/22						chr17	TogoVar
CTCF_chr16_67557526_67644177	67629746	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG03017.hp2 HG03098.hp2 others(2): Show HG00438.hp2 HG03017.hp2 HG03098.hp2 HG03491.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0001 a0001c0001t0002 a0001c0001t0010	a0001c0001t0001g0007 a0001c0001t0001g0037 a0001c0001t0002g0151 others(2): Show a0001c0001t0001g0007 a0001c0001t0001g0037 a0001c0001t0002g0151 a0001c0001t0002g0153 a0001c0001t0010g0166	5	168	0.0298	-19	c.183 others(36): Show c.1837+241_1837+259delTTTTTTTTTTTTTTTTTTT		CTCF	ENSG00000102974.16	transcript	ENST00000264010.10	protein_coding	10/11					INFO_REALIGN_3_PRIME	chr16	TogoVar
CTDNEP1_chr17_7238591_7256734	7251141	TGTCCCCA others(12): Show TGTCCCCAACACCGCCAGAC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02630.hp2 HG02976.hp1 others(3): Show HG02257.hp1 HG02630.hp2 HG02976.hp1 HG03209.hp2 HG03486.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	6	398	0.0151	-19	c.102 others(32): Show c.102+35_102+53delGTCTGGCGGTGTTGGGGAC		CTDNEP1	ENSG00000175826.12	transcript	ENST00000574322.6	protein_coding	1/7						chr17	TogoVar
CTDP1_chr18_79674803_79759503	79710686	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0190 a0001c0001t0002g0190	1	378	0.0027	-19	c.863 others(34): Show c.863+264_863+282delTTTTTTTTTTTTTTTTTTT		CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	6/12					INFO_REALIGN_3_PRIME	chr18	TogoVar
CTDP1_chr18_79674803_79759503	79738000	GGCCTCCC others(12): Show GGCCTCCCCCGCAGGTCCCC	G G	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02280.hp1 HG02451.hp1 others(9): Show HG01255.hp2 HG02280.hp1 HG02451.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03130.hp2 HG03516.hp1 HG03540.hp1 NA20300.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0007	a0001c0003 a0001c0013 a0001c0014 others(5): Show a0001c0003 a0001c0013 a0001c0014 a0001c0017 a0001c0018 a0002c0002 a0005c0011 a0007c0019	a0001c0003t0001 a0001c0013t0001 a0001c0014t0001 others(5): Show a0001c0003t0001 a0001c0013t0001 a0001c0014t0001 a0001c0017t0003 a0001c0018t0001 a0002c0002t0001 a0005c0011t0005 a0007c0019t0001	a0001c0003t0001g0066 a0001c0013t0001g0091 a0001c0014t0001g0011 others(9): Show a0001c0003t0001g0066 a0001c0013t0001g0091 a0001c0014t0001g0011 a0001c0014t0001g0012 a0001c0017t0003g0014 a0001c0017t0003g0015 a0001c0018t0001g0085 a0001c0018t0001g0086 a0002c0002t0001g0242 a0005c0011t0005g0367 a0007c0019t0001g0300 a0007c0019t0001g0301	12	378	0.0318	-19	c.274 others(38): Show c.2747+1489_2747+1507delGCAGGTCCCCGCCTCCCCC		CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	12/12					INFO_REALIGN_3_PRIME	chr18	TogoVar
CTDSP1_chr2_218394868_218410941	218406440	TGCCGGGC others(12): Show TGCCGGGCGGCCTGGGTGGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	424	0.0024	-19	c.20 others(30): Show c.2016_*2034delGCCGGGCGGCCTGGGTGGG		CTDSP1	ENSG00000144579.9	transcript	ENST00000273062.7	protein_coding					500		chr2	TogoVar
CTDSPL2_chr15_44422629_44534038	44457555	CTTTGTTA others(12): Show CTTTGTTAGCCTTTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0001 a0001c0001t0017g0001	1	234	0.0043	-19	c.-24 others(36): Show c.-24-1433_-24-1415delTGTTAGCCTTTGTGTGTTT		CTDSPL2	ENSG00000137770.14	transcript	ENST00000260327.9	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr15	TogoVar
CTIF_chr18_48534031_48868217	48716098	TCCTGAAT others(12): Show TCCTGAATGTGTATCACAGC	T T	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0079 a0001c0005t0001g0079	1	144	0.0069	-19	c.584 others(36): Show c.584+4404_584+4422delCCTGAATGTGTATCACAGC		CTIF	ENSG00000134030.14	transcript	ENST00000256413.8	protein_coding	7/11						chr18	TogoVar
CTNNA1_chr5_138748425_138940034	138755845	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01993.hp1 HG02280.hp1 others(9): Show HG01109.hp2 HG01993.hp1 HG02280.hp1 HG02630.hp2 HG02723.hp1 HG02818.hp1 HG03540.hp1 NA18522.hp2 NA18906.hp2 NA19043.hp2 NA19240.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 others(2): Show a0001c0001 a0001c0002 a0001c0008 a0001c0012 a0001c0013	a0001c0001t0006 a0001c0002t0003 a0001c0002t0008 others(3): Show a0001c0001t0006 a0001c0002t0003 a0001c0002t0008 a0001c0008t0003 a0001c0012t0003 a0001c0013t0003	a0001c0001t0006g0174 a0001c0001t0006g0175 a0001c0002t0003g0021 others(9): Show a0001c0001t0006g0174 a0001c0001t0006g0175 a0001c0002t0003g0021 a0001c0002t0003g0022 a0001c0002t0003g0023 a0001c0002t0003g0024 a0001c0002t0003g0025 a0001c0002t0003g0029 a0001c0002t0008g0028 a0001c0008t0003g0030 a0001c0012t0003g0019 a0001c0013t0003g0031	12	180	0.0667	-19	c.-3+ others(34): Show c.-3+2352_-3+2370delTTTTTTTTTTTTTTTTTTT		CTNNA1	ENSG00000044115.21	transcript	ENST00000302763.12	protein_coding	1/17					INFO_REALIGN_3_PRIME	chr5	TogoVar

Search by Variant

Search

Search Results (Total: 7091 hits)