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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CSF2RA_chrX_1263814_1314935	1314849	T T	TTGCACTG others(31): Show TTGCACTGCACCTGCCCAACCCCAATGCACCTACCCAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0002 a0003c0009t0002	a0003c0009t0002g0104 a0003c0009t0002g0104	1	159	0.0063	38	c.53 others(49): Show c.5370_*5371insTGCACTGCACCTGCCCAACCCCAATGCACCTACC CAAC	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding		4915		chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1314858	A A	ACCTGCCC others(31): Show ACCTGCCCAACCCCACTGCACCTGCCCAACCCCACTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 HG01884.hp2 HG02622.hp1 HG01433.hp1 HG01884.hp2 HG02622.hp1	a0002 a0005 a0007 a0002 a0005 a0007	a0002c0003 a0005c0008 a0007c0017 a0002c0003 a0005c0008 a0007c0017	a0002c0003t0001 a0005c0008t0001 a0007c0017t0001 a0002c0003t0001 a0005c0008t0001 a0007c0017t0001	a0002c0003t0001g0008 a0005c0008t0001g0138 a0007c0017t0001g0143 a0002c0003t0001g0008 a0005c0008t0001g0138 a0007c0017t0001g0143	3	159	0.0189	38	c.53 others(49): Show c.5379_*5380insCCTGCCCAACCCCACTGCACCTGCCCAACCCCAC TGTG	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding		4924		chrX	TogoVar
CSGALNACT1_chr8_19399161_19762277	19513436	C C	CTCTCTAT others(31): Show CTCTCTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0046 a0001c0002t0002g0046	1	238	0.0042	38	c.-29 others(57): Show c.-296-7307_-296-7306insTATATATATATATATATATATATATA TATATATAGAGA	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19554545	A A	AGGAGGGA others(31): Show AGGAGGGAAGAGAGATGGAAGAGTGTAGCAGGAAACCAG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00408.hp1 others(119): Show HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00642.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01257.hp2 HG01258.hp2 HG01361.hp1 HG01496.hp2 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01993.hp1 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp2 HG02258.hp1 HG02258.hp2 HG02293.hp1 HG02300.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03209.hp1 HG03225.hp1 HG03471.hp1 HG03486.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03669.hp1 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18942.hp1 NA18952.hp2 NA18953.hp1 NA18959.hp1 NA18971.hp1 NA18977.hp1 NA18977.hp2 NA18984.hp1 NA18984.hp2 NA18988.hp1 NA18993.hp1 NA19011.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp2 NA19056.hp1 NA19087.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0008 a0009 a0010 a0011 a0012	a0001c0001 a0001c0002 a0001c0007 others(14): Show a0001c0001 a0001c0002 a0001c0007 a0001c0010 a0001c0017 a0002c0003 a0002c0004 a0002c0008 a0002c0012 a0003c0005 a0004c0009 a0005c0011 a0008c0016 a0009c0020 a0010c0018 a0011c0019 a0012c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(54): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 a0001c0001t0017 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0008 a0001c0002t0009 a0001c0002t0011 a0001c0002t0012 a0001c0002t0014 a0001c0002t0016 a0001c0002t0022 a0001c0002t0023 a0001c0002t0024 a0001c0002t0025 a0001c0002t0041 a0001c0002t0043 a0001c0002t0044 a0001c0002t0047 a0001c0002t0048 a0001c0007t0031 a0001c0007t0039 a0001c0010t0018 a0001c0017t0023 a0002c0003t0003 a0002c0003t0004 a0002c0003t0005 a0002c0003t0007 a0002c0003t0011 a0002c0003t0012 a0002c0003t0028 a0002c0003t0029 a0002c0003t0034 a0002c0003t0045 a0002c0004t0003 a0002c0004t0005 a0002c0004t0012 a0002c0008t0003 a0002c0012t0021 a0002c0012t0042 a0003c0005t0004 a0003c0005t0027 a0004c0009t0003 a0004c0009t0012 a0005c0011t0003 a0008c0016t0009 a0009c0020t0030 a0010c0018t0003 a0011c0019t0009 a0012c0021t0040	a0001c0001t0001g0053 a0001c0001t0001g0065 a0001c0001t0001g0137 others(119): Show a0001c0001t0001g0053 a0001c0001t0001g0065 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0145 a0001c0001t0001g0210 a0001c0001t0001g0226 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0213 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0223 a0001c0001t0005g0187 a0001c0001t0010g0122 a0001c0001t0010g0202 a0001c0001t0010g0231 a0001c0001t0017g0121 a0001c0002t0001g0115 a0001c0002t0002g0008 a0001c0002t0002g0027 a0001c0002t0002g0067 a0001c0002t0002g0084 a0001c0002t0002g0103 a0001c0002t0002g0130 a0001c0002t0002g0132 a0001c0002t0002g0164 a0001c0002t0002g0234 a0001c0002t0002g0236 a0001c0002t0003g0098 a0001c0002t0004g0095 a0001c0002t0004g0144 a0001c0002t0004g0153 a0001c0002t0005g0050 a0001c0002t0005g0073 a0001c0002t0005g0074 a0001c0002t0005g0075 a0001c0002t0005g0080 a0001c0002t0005g0172 a0001c0002t0006g0017 a0001c0002t0006g0045 a0001c0002t0006g0047 a0001c0002t0007g0037 a0001c0002t0007g0126 a0001c0002t0007g0142 a0001c0002t0007g0189 a0001c0002t0008g0022 a0001c0002t0008g0035 a0001c0002t0008g0143 a0001c0002t0008g0216 a0001c0002t0008g0232 a0001c0002t0008g0237 a0001c0002t0009g0003 a0001c0002t0009g0056 a0001c0002t0011g0177 a0001c0002t0012g0175 a0001c0002t0014g0120 a0001c0002t0016g0049 a0001c0002t0016g0162 a0001c0002t0016g0173 a0001c0002t0022g0169 a0001c0002t0023g0096 a0001c0002t0024g0147 a0001c0002t0024g0148 a0001c0002t0025g0001 a0001c0002t0041g0031 a0001c0002t0043g0097 a0001c0002t0044g0186 a0001c0002t0047g0197 a0001c0002t0048g0238 a0001c0007t0031g0029 a0001c0007t0039g0041 a0001c0010t0018g0026 a0001c0010t0018g0191 a0001c0017t0023g0011 a0002c0003t0003g0048 a0002c0003t0003g0099 a0002c0003t0003g0105 a0002c0003t0003g0109 a0002c0003t0003g0127 a0002c0003t0004g0006 a0002c0003t0004g0014 a0002c0003t0005g0043 a0002c0003t0005g0052 a0002c0003t0005g0093 a0002c0003t0005g0100 a0002c0003t0005g0113 a0002c0003t0005g0190 a0002c0003t0007g0051 a0002c0003t0007g0128 a0002c0003t0011g0092 a0002c0003t0011g0188 a0002c0003t0012g0066 a0002c0003t0028g0111 a0002c0003t0029g0170 a0002c0003t0034g0054 a0002c0003t0045g0090 a0002c0004t0003g0020 a0002c0004t0005g0015 a0002c0004t0012g0200 a0002c0008t0003g0140 a0002c0008t0003g0155 a0002c0008t0003g0156 a0002c0012t0021g0174 a0002c0012t0042g0091 a0003c0005t0004g0007 a0003c0005t0004g0077 a0003c0005t0004g0094 a0003c0005t0004g0157 a0003c0005t0004g0184 a0003c0005t0027g0229 a0004c0009t0003g0107 a0004c0009t0003g0215 a0004c0009t0012g0070 a0005c0011t0003g0180 a0005c0011t0003g0181 a0008c0016t0009g0161 a0009c0020t0030g0182 a0010c0018t0003g0039 a0011c0019t0009g0055 a0012c0021t0040g0178	122	238	0.5126	38	c.-29 others(59): Show c.-297+47225_-297+47226insCTGGTTTCCTGCTACACTCTTCCA TCTCTCTTCCCTCC	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19666809	A A	AAGAAAGA others(31): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	238	0.0042	38	c.-39 others(59): Show c.-391-64945_-391-64944insCTCTCTCTCTCTCTTTCTTTCTTT CTTTCTTTCTTTCT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSH1_chr17_63889918_63901574	63898148	C C	CTTTCTTT others(31): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	428	0.0023	38	c.-16 others(49): Show c.-1638_-1637insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAA	CSH1	ENSG00000136488.15	transcript	ENST00000316193.13	protein_coding		1575		chr17	TogoVar
CSH1_chr17_63889918_63901574	63898152	C C	CTTTCTTT others(31): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp2 NA18946.hp2 NA18992.hp2 HG02040.hp2 NA18946.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	428	0.0070	38	c.-16 others(49): Show c.-1642_-1641insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAA	CSH1	ENSG00000136488.15	transcript	ENST00000316193.13	protein_coding		1579		chr17	TogoVar
CSH1_chr17_63889918_63901574	63898156	C C	CTTTCTTT others(31): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp2 NA18940.hp2 NA18948.hp2 others(1): Show HG02523.hp2 NA18940.hp2 NA18948.hp2 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0001 a0001c0001t0001g0011	4	428	0.0094	38	c.-16 others(49): Show c.-1646_-1645insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAA	CSH1	ENSG00000136488.15	transcript	ENST00000316193.13	protein_coding		1583		chr17	TogoVar
CSH1_chr17_63889918_63901574	63898160	C C	CTTTCTTT others(31): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG02280.hp1 NA18950.hp1 others(1): Show HG00544.hp2 HG02280.hp1 NA18950.hp1 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	4	428	0.0094	38	c.-16 others(49): Show c.-1650_-1649insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAA	CSH1	ENSG00000136488.15	transcript	ENST00000316193.13	protein_coding		1587		chr17	TogoVar
CSH1_chr17_63889918_63901574	63898164	C C	CTTTCTTT others(31): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 NA19081.hp1 HG00621.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	428	0.0047	38	c.-16 others(49): Show c.-1654_-1653insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAA	CSH1	ENSG00000136488.15	transcript	ENST00000316193.13	protein_coding		1591		chr17	TogoVar
CSH1_chr17_63889918_63901574	63898168	C C	CTTTCTTT others(31): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0009 a0001c0005t0002g0009	1	428	0.0023	38	c.-16 others(49): Show c.-1658_-1657insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAA	CSH1	ENSG00000136488.15	transcript	ENST00000316193.13	protein_coding		1595		chr17	TogoVar
CSMD1_chr8_2930361_4999914	3182841	G G	GGGGTGTG others(31): Show GGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG04228.hp2 HG00735.hp1 HG04228.hp2	a0002 a0021 a0002 a0021	a0002c0012 a0021c0016 a0002c0012 a0021c0016	a0002c0012t0017 a0021c0016t0048 a0002c0012t0017 a0021c0016t0048	a0002c0012t0017g0088 a0021c0016t0048g0106 a0002c0012t0017g0088 a0021c0016t0048g0106	2	126	0.0159	38	c.562 others(57): Show c.5621-1628_5621-1627insACACACACACACACACACACACACAC ACACACACACCC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	36/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3412057	C C	CGTGTATA others(31): Show CGTGTATATACACGTATATATACGTGTATACGTGTATAT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0017 a0017	a0017c0106 a0017c0106	a0017c0106t0012 a0017c0106t0012	a0017c0106t0012g0042 a0017c0106t0012g0042	1	126	0.0079	38	c.156 others(57): Show c.1562-2453_1562-2452insATATACACGTATACACGTATATATAC GTGTATATACAC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	12/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4295116	A A	ACACATAT others(31): Show ACACATATAATCTTAAGATTATATAATCTTAAGATTACG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp2 NA18522.hp1 HG03098.hp1 HG03098.hp2 NA18522.hp1	a0001 a0011 a0027 a0001 a0011 a0027	a0001c0002 a0011c0110 a0027c0023 a0001c0002 a0011c0110 a0027c0023	a0001c0002t0028 a0011c0110t0074 a0027c0023t0001 a0001c0002t0028 a0011c0110t0074 a0027c0023t0001	a0001c0002t0028g0005 a0011c0110t0074g0082 a0027c0023t0001g0052 a0001c0002t0028g0005 a0011c0110t0074g0082 a0027c0023t0001g0052	3	126	0.0238	38	c.415 others(59): Show c.415+124799_415+124836dupCGTAATCTTAAGATTATATAATCT TAAGATTATATGTG	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4295116	A A	ACACATAT others(31): Show ACACATATAATCTTAGGATTATATAATCTTAAGATTACG	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0018 a0018	a0018c0044 a0018c0044	a0018c0044t0064 a0018c0044t0064	a0018c0044t0064g0085 a0018c0044t0064g0085	1	126	0.0079	38	c.415 others(59): Show c.415+124836_415+124837insCGTAATCTTAAGATTATATAATCC TAAGATTATATGTG	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
CSMD2_chr1_33508998_34170230	34076928	A A	AAAAAAAA others(31): Show AAAAAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0016 a0016	a0016c0033 a0016c0033	a0016c0033t0012 a0016c0033t0012	a0016c0033t0012g0028 a0016c0033t0012g0028	1	66	0.0152	38	c.404 others(57): Show c.404+12048_404+12049insATATATATATATATATATATATATAT TTTTTTTTTTTT	CSMD2	ENSG00000121904.19	transcript	ENST00000373381.9	protein_coding	2/70			chr1	TogoVar
CSMD2_chr1_33508998_34170230	34102630	A A	AATCCGGC others(31): Show AATCCGGCCATATCCCTGTAATCCGGCCATATCCCTGTG	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG02647.hp2 HG02723.hp2 others(7): Show HG01069.hp1 HG02647.hp2 HG02723.hp2 HG02886.hp2 HG03209.hp2 HG03225.hp2 HG06807.hp1 NA18906.hp2 NA18998.hp1 NA19030.hp2	a0001 a0003 a0005 others(7): Show a0001 a0003 a0005 a0010 a0012 a0016 a0017 a0019 a0026 a0027	a0001c0044 a0003c0037 a0005c0015 others(7): Show a0001c0044 a0003c0037 a0005c0015 a0010c0056 a0012c0028 a0016c0033 a0017c0052 a0019c0030 a0026c0023 a0027c0018	a0001c0044t0002 a0003c0037t0007 a0005c0015t0001 others(7): Show a0001c0044t0002 a0003c0037t0007 a0005c0015t0001 a0010c0056t0001 a0012c0028t0007 a0016c0033t0012 a0017c0052t0003 a0019c0030t0003 a0026c0023t0003 a0027c0018t0001	a0001c0044t0002g0026 a0003c0037t0007g0038 a0005c0015t0001g0021 others(7): Show a0001c0044t0002g0026 a0003c0037t0007g0038 a0005c0015t0001g0021 a0010c0056t0001g0047 a0012c0028t0007g0041 a0016c0033t0012g0028 a0017c0052t0003g0040 a0019c0030t0003g0020 a0026c0023t0003g0039 a0027c0018t0001g0048	10	66	0.1515	38	c.188 others(57): Show c.188-13438_188-13437insCACAGGGATATGGCCGGATTACAGGG ATATGGCCGGAT	CSMD2	ENSG00000121904.19	transcript	ENST00000373381.9	protein_coding	1/70			chr1	TogoVar
CSNK1A1_chr5_149487982_149556439	149544737	T T	TTATATAT others(31): Show TTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp1 NA18949.hp2 HG01257.hp2 HG01258.hp1 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0010 a0001c0001t0003 a0001c0001t0010	a0001c0001t0003g0165 a0001c0001t0010g0002 a0001c0001t0003g0165 a0001c0001t0010g0002	3	390	0.0077	38	c.230 others(55): Show c.230+5337_230+5338insTATATATATATATATATATATATATATA TATATATATA	CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9			chr5	TogoVar
CSNK1G1_chr15_64160525_64361173	64343208	A A	AACACACA others(31): Show AACACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02723.hp2 HG02451.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0005 a0001c0003t0001 a0001c0001t0005 a0001c0003t0001	a0001c0001t0005g0170 a0001c0003t0001g0083 a0001c0001t0005g0170 a0001c0003t0001g0083	2	176	0.0114	38	c.-22 others(59): Show c.-225+12779_-225+12780insGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGT	CSNK1G1	ENSG00000169118.18	transcript	ENST00000303052.13	protein_coding	1/11			chr15	TogoVar
CSNK1G2_chr19_1936172_1986338	1959623	G G	GCCACCTT others(31): Show GCCACCTTTAGTGCCACCGTGGGTCCCCCAGCACCCGCC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	382	0.0026	38	c.-26 others(57): Show c.-265-9848_-265-9811dupCCCCACCTTTAGTGCCACCGTGGGTC CCCCAGCACCCG	CSNK1G2	ENSG00000133275.16	transcript	ENST00000255641.13	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
CSNK2A1_chr20_467498_548790	485107	A A	AATAATAA others(31): Show AATAATAATAATAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0308 a0001c0001t0036g0308	1	316	0.0032	38	c.106 others(57): Show c.1061-1032_1061-1031insATATATATATATATATATATATATAT TATTATTATTAT	CSNK2A1	ENSG00000101266.19	transcript	ENST00000217244.9	protein_coding	13/13			chr20	TogoVar
CSNK2A1_chr20_467498_548790	485109	A A	AAAAAAAA others(31): Show AAAAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0267 a0001c0001t0001g0267	1	316	0.0032	38	c.106 others(57): Show c.1061-1034_1061-1033insATATATATATATATATATATATATAT ATATATTTTTTT	CSNK2A1	ENSG00000101266.19	transcript	ENST00000217244.9	protein_coding	13/13			chr20	TogoVar
CSNK2A2_chr16_58152907_58203106	58171958	C C	CATATATA others(31): Show CATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03579.hp2 NA18948.hp1 others(1): Show HG03139.hp1 HG03579.hp2 NA18948.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0219 others(1): Show a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0219 a0001c0001t0001g0220	4	400	0.0100	38	c.429 others(55): Show c.429+2492_429+2493insATATATATATATATATATATATATATAT ATATATATAT	CSNK2A2	ENSG00000070770.10	transcript	ENST00000262506.8	protein_coding	5/11			chr16	TogoVar
CSNK2A2_chr16_58152907_58203106	58171979	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	400	0.0025	38	c.429 others(55): Show c.429+2471_429+2472insAAAAAATATATATATATATATATATATA TATATATATA	CSNK2A2	ENSG00000070770.10	transcript	ENST00000262506.8	protein_coding	5/11			chr16	TogoVar
CSNK2B_chr6_31661080_31675067	31671997	G G	GTTTTTTT others(31): Show GTTTTTTTTTTTTTTTTTTTTTTATTTCTTTTTTTTTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0019 a0001c0001t0002g0019	1	421	0.0024	38	c.20 others(49): Show c.2071_*2072insTTTTTTTTTTTTTTTTTTTTTTATTTCTTTTTTT TTTA	CSNK2B	ENSG00000204435.15	transcript	ENST00000375882.7	protein_coding		1931		chr6	TogoVar
CSPP1_chr8_67059392_67201614	67159956	T T	TTTCTTTT others(31): Show TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG01981.hp2 NA19043.hp1 NA20905.hp1 HG01981.hp2 NA19043.hp1 NA20905.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0010 a0001c0001 a0007c0010	a0001c0001t0001 a0007c0010t0001 a0001c0001t0001 a0007c0010t0001	a0001c0001t0001g0072 a0001c0001t0001g0104 a0007c0010t0001g0054 a0001c0001t0001g0072 a0001c0001t0001g0104 a0007c0010t0001g0054	3	158	0.0190	38	c.253 others(55): Show c.2538+819_2538+820insTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTC	CSPP1	ENSG00000104218.16	transcript	ENST00000678616.1	protein_coding	21/30			chr8	TogoVar
CSRNP3_chr2_165464698_165694407	165477459	A A	AAATACAA others(31): Show AAATACAAATATATATATATATGAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0231 a0001c0001t0009g0231	1	246	0.0041	38	c.-28 others(57): Show c.-283+7741_-283+7778dupGAAATATATATATATATAATACAAAT ATATATATATAT	CSRNP3	ENSG00000178662.16	transcript	ENST00000651982.1	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
CSRNP3_chr2_165464698_165694407	165477483	A A	AATATATA others(31): Show AATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01099.hp1 HG00741.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0048 a0001c0002t0006 a0001c0001t0048 a0001c0002t0006	a0001c0001t0048g0081 a0001c0002t0006g0080 a0001c0001t0048g0081 a0001c0002t0006g0080	2	246	0.0081	38	c.-28 others(57): Show c.-283+7758_-283+7759insTATATATATATATATATATATATATA TATATATATATA	CSRNP3	ENSG00000178662.16	transcript	ENST00000651982.1	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
CT47C1_chrX_119067993_119081765	119081496	C C	CAAATCCA others(31): Show CAAATCCAACTGGAACCACAGCAAATAACACACAAGCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0012 a0012	a0012c0016 a0012c0016	a0012c0016t0001 a0012c0016t0001	a0012c0016t0001g0001 a0012c0016t0001g0001	1	310	0.0032	38	c.52 others(49): Show c.5295_*5296insAAATCCAACTGGAACCACAGCAAATAACACACAA GCAA	CT47C1	ENSG00000277535.4	transcript	ENST00000620151.4	protein_coding		4732		chrX	TogoVar
CTAGE15_chr7_143566801_143579387	143568417	G G	GAAACCCT others(31): Show GAAACCCTGTTATAGAAAGAGGGCAAAACCATTTCAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0041 a0041	a0041c0032 a0041c0032	a0041c0032t0001 a0041c0032t0001	a0041c0032t0001g0000 a0041c0032t0001g0000	1	220	0.0046	38	c.-34 others(49): Show c.-3401_-3400insAAACCCTGTTATAGAAAGAGGGCAAAACCATTTC AGGA	CTAGE15	ENSG00000271079.1	transcript	ENST00000420911.2	protein_coding		3383		chr7	TogoVar
CTBS_chr1_84544611_84579440	84574504	T T	TCGGGAAG others(31): Show TCGGGAAGGGCGGGGAGGGGCGGGAAGGGCGGGGAGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0008 a0008	a0008c0019 a0008c0019	a0008c0019t0030 a0008c0019t0030	a0008c0019t0030g0063 a0008c0019t0030g0063	1	340	0.0029	38	c.-90 others(45): Show c.-90_-89insCCCCTCCCCGCCCTTCCCGCCCCTCCCCGCCCTTCCCG	CTBS	ENSG00000117151.13	transcript	ENST00000370630.6	protein_coding		65		chr1	TogoVar
CTBS_chr1_84544611_84579440	84574510	A A	AGGGCGGG others(31): Show AGGGCGGGGAGGGGCGGGAGGGGCGGGGAGGGGCGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 NA19074.hp1 HG00544.hp1 NA19074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0003 a0001c0002t0002 a0001c0002t0003	a0001c0002t0002g0043 a0001c0002t0003g0004 a0001c0002t0002g0043 a0001c0002t0003g0004	2	340	0.0059	38	c.-96 others(45): Show c.-96_-95insCTCCCGCCCCTCCCCGCCCCTCCCGCCCCTCCCCGCCC	CTBS	ENSG00000117151.13	transcript	ENST00000370630.6	protein_coding		71		chr1	TogoVar
CTDP1_chr18_79674803_79759503	79691884	G G	GGAGGAGT others(31): Show GGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGA	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG03225.hp2 HG01943.hp2 HG03225.hp2	a0001 a0005 a0001 a0005	a0001c0007 a0005c0024 a0001c0007 a0005c0024	a0001c0007t0003 a0005c0024t0001 a0001c0007t0003 a0005c0024t0001	a0001c0007t0003g0362 a0005c0024t0001g0371 a0001c0007t0003g0362 a0005c0024t0001g0371	2	378	0.0053	38	c.315 others(55): Show c.315-3313_315-3312insCGGGGTGGGAGAGGAGTGGACGGCTCCC AGGGTGGACT	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTDP1_chr18_79674803_79759503	79691887	G G	GGAGTGGA others(31): Show GGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGAGAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00609.hp1 HG01070.hp1 others(18): Show HG00423.hp2 HG00609.hp1 HG01070.hp1 HG01071.hp1 HG01255.hp1 HG01257.hp1 HG01934.hp1 HG02083.hp2 HG02300.hp2 HG02965.hp1 HG03688.hp1 HG03834.hp1 HG03942.hp1 HG04199.hp2 HG04204.hp1 NA18951.hp1 NA18952.hp2 NA18997.hp1 NA19009.hp1 NA19070.hp1 NA19089.hp2	a0001 a0003 a0001 a0003	a0001c0007 a0001c0020 a0003c0023 a0001c0007 a0001c0020 a0003c0023	a0001c0007t0003 a0001c0007t0012 a0001c0020t0001 others(1): Show a0001c0007t0003 a0001c0007t0012 a0001c0020t0001 a0003c0023t0003	a0001c0007t0003g0004 a0001c0007t0003g0345 a0001c0007t0003g0346 others(17): Show a0001c0007t0003g0004 a0001c0007t0003g0345 a0001c0007t0003g0346 a0001c0007t0003g0348 a0001c0007t0003g0350 a0001c0007t0003g0351 a0001c0007t0003g0352 a0001c0007t0003g0354 a0001c0007t0003g0355 a0001c0007t0003g0356 a0001c0007t0003g0357 a0001c0007t0003g0358 a0001c0007t0003g0359 a0001c0007t0003g0360 a0001c0007t0003g0363 a0001c0007t0003g0364 a0001c0007t0003g0365 a0001c0007t0012g0353 a0001c0020t0001g0349 a0003c0023t0003g0361	21	378	0.0556	38	c.315 others(55): Show c.315-3313_315-3312insCGGGGTGGGAGAAGAGTGGACGGCTCCC AGGGTGGACT	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTDP1_chr18_79674803_79759503	79720277	A A	ATCCTGGT others(31): Show ATCCTGGTGATGATGTCACCTCCCGTCATTAGGAGGGCG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02280.hp1 HG01884.hp1 HG02280.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0091 a0001c0013t0001g0092 a0001c0013t0001g0091 a0001c0013t0001g0092	2	378	0.0053	38	c.241 others(57): Show c.2417+2283_2417+2284insCGTCATTAGGAGGGCGTCCTGGTGAT GATGTCACCTCC	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTDP1_chr18_79674803_79759503	79726776	C C	CTGGTGGA others(31): Show CTGGTGGACGGCTGTGGGGGATGGGGGTGACACCATTGT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02258.hp1 HG02647.hp1 others(5): Show HG02109.hp2 HG02258.hp1 HG02647.hp1 HG02809.hp1 HG02896.hp2 HG03130.hp2 HG03225.hp2 NA19043.hp2	a0001 a0005 a0001 a0005	a0001c0041 a0001c0042 a0005c0011 others(2): Show a0001c0041 a0001c0042 a0005c0011 a0005c0015 a0005c0024	a0001c0041t0013 a0001c0042t0001 a0005c0011t0005 others(2): Show a0001c0041t0013 a0001c0042t0001 a0005c0011t0005 a0005c0015t0005 a0005c0024t0001	a0001c0041t0013g0096 a0001c0042t0001g0095 a0005c0011t0005g0367 others(5): Show a0001c0041t0013g0096 a0001c0042t0001g0095 a0005c0011t0005g0367 a0005c0011t0005g0368 a0005c0011t0005g0370 a0005c0015t0005g0366 a0005c0015t0005g0369 a0005c0024t0001g0371	8	378	0.0212	38	c.241 others(57): Show c.2418-2111_2418-2110insTGGGGGTGACACCATTGTTGGTGGAC GGCTGTGGGGGA	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTDP1_chr18_79674803_79759503	79726897	G G	GTCTGTGG others(31): Show GTCTGTGGGGTATGGGGTTGATGCCGTTGCTGGTGGACT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00597.hp1 HG00609.hp2 others(39): Show HG00558.hp1 HG00597.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp2 HG01168.hp2 HG01169.hp2 HG01243.hp2 HG01261.hp2 HG01496.hp2 HG01993.hp1 HG02027.hp1 HG02080.hp2 HG02132.hp2 HG02735.hp1 HG03579.hp2 NA18747.hp1 NA18947.hp1 NA18949.hp1 NA18950.hp2 NA18954.hp2 NA18960.hp2 NA18961.hp2 NA18963.hp1 NA18968.hp2 NA18969.hp1 NA18971.hp1 NA18979.hp1 NA18980.hp2 NA18989.hp1 NA18993.hp1 NA19010.hp1 NA19012.hp2 NA19030.hp1 NA19056.hp1 NA19057.hp1 NA19058.hp2 NA19065.hp1 NA19067.hp2 NA19070.hp2 NA19080.hp1 NA19089.hp2	a0001 a0003 a0014 others(1): Show a0001 a0003 a0014 a0017	a0001c0001 a0003c0005 a0003c0009 others(4): Show a0001c0001 a0003c0005 a0003c0009 a0003c0012 a0003c0023 a0014c0034 a0017c0040	a0001c0001t0002 a0001c0001t0008 a0003c0005t0002 others(5): Show a0001c0001t0002 a0001c0001t0008 a0003c0005t0002 a0003c0009t0002 a0003c0012t0002 a0003c0023t0003 a0014c0034t0002 a0017c0040t0001	a0001c0001t0002g0135 a0001c0001t0008g0097 a0001c0001t0008g0098 others(39): Show a0001c0001t0002g0135 a0001c0001t0008g0097 a0001c0001t0008g0098 a0001c0001t0008g0101 a0003c0005t0002g0005 a0003c0005t0002g0006 a0003c0005t0002g0007 a0003c0005t0002g0008 a0003c0005t0002g0099 a0003c0005t0002g0102 a0003c0005t0002g0103 a0003c0005t0002g0104 a0003c0005t0002g0110 a0003c0005t0002g0111 a0003c0005t0002g0112 a0003c0005t0002g0113 a0003c0005t0002g0114 a0003c0005t0002g0118 a0003c0005t0002g0119 a0003c0005t0002g0120 a0003c0005t0002g0121 a0003c0005t0002g0123 a0003c0005t0002g0125 a0003c0005t0002g0126 a0003c0005t0002g0127 a0003c0005t0002g0128 a0003c0005t0002g0129 a0003c0005t0002g0130 a0003c0005t0002g0133 a0003c0005t0002g0134 a0003c0009t0002g0108 a0003c0009t0002g0109 a0003c0009t0002g0115 a0003c0009t0002g0116 a0003c0009t0002g0117 a0003c0009t0002g0124 a0003c0012t0002g0105 a0003c0012t0002g0106 a0003c0012t0002g0107 a0003c0023t0003g0361 a0014c0034t0002g0122 a0017c0040t0001g0256	42	378	0.1111	38	c.241 others(57): Show c.2418-2010_2418-2009insTCTGTGGGGTATGGGGTTGATGCCGT TGCTGGTGGACT	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	10/12			chr18	TogoVar
CTNNA1_chr5_138748425_138940034	138916177	C C	CAAAAAAA others(31): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	180	0.0056	38	c.139 others(57): Show c.1390-1551_1390-1550insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAA	CTNNA1	ENSG00000044115.21	transcript	ENST00000302763.12	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
CTNNA3_chr10_65907523_67701195	66021852	C C	CTTTTTTT others(31): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0044 a0001c0001t0024g0044	1	46	0.0217	38	c.216 others(59): Show c.2160-33056_2160-33055insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAA	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	15/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	66421897	G G	GATATATA others(31): Show GATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0007 a0001c0001t0006g0008 a0001c0001t0006g0007 a0001c0001t0006g0008	2	46	0.0435	38	c.153 others(59): Show c.1532-42546_1532-42545insATATATATATATATATATATATAT ATATATATATATAT	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	11/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	66421897	G G	GATGTGTA others(31): Show GATGTGTATATATATATATATATATATATATATGTATAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0035 a0002c0002t0001g0035	1	46	0.0217	38	c.153 others(59): Show c.1532-42546_1532-42545insATATACATATATATATATATATAT ATATATATACACAT	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	11/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	66978552	A A	AAAAAAAA others(31): Show AAAAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0042 a0002c0002t0003g0042	1	46	0.0217	38	c.104 others(61): Show c.1047+201764_1047+201765insATATATATATATATATATATAT ATATATATATTTTTTT	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	7/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	67133328	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATTTATAC	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0028 a0002c0002t0004g0028	1	46	0.0217	38	c.104 others(59): Show c.1047+46988_1047+46989insGTATAAATATATATATATATATAT ATATATATATATAT	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	7/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	67566039	G G	GTATACAT others(31): Show GTATACATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0035 a0002c0002t0001g0035	1	46	0.0217	38	c.293 others(57): Show c.293-26371_293-26370insTATATATATATATATATATATATATA TATATATGTATA	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	3/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	67566043	G G	GTATATAT others(31): Show GTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0012 a0001c0001t0021g0012	1	46	0.0217	38	c.293 others(57): Show c.293-26375_293-26374insTATATATATATATATATATATATATA TATATATATATA	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	3/17			chr10	TogoVar
CTNND2_chr5_10966836_11909446	11662169	G G	GTATATAT others(31): Show GTATATATACATATATGTGTATATATGTGTATATATGTA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03130.hp1 HG02258.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0003g0026 a0001c0002t0001g0013 a0001c0001t0003g0026 a0001c0002t0001g0013	2	26	0.0769	38	c.174 others(57): Show c.174+69929_174+69966dupTACATATATACACATATATACACATA TATGTATATATA	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	2/21			chr5	TogoVar
CTNS_chr17_3631760_3668103	3635236	A A	AGGAAGGA others(31): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGGAAGGAAGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02970.hp1 HG02622.hp2 HG02970.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0002 a0001c0004 a0002c0002	a0001c0004t0008 a0002c0002t0004 a0001c0004t0008 a0002c0002t0004	a0001c0004t0008g0037 a0002c0002t0004g0302 a0001c0004t0008g0037 a0002c0002t0004g0302	2	372	0.0054	38	c.-18 others(49): Show c.-1825_-1824insGGAAGGAAGGAAGGAAGGAAGGAAGGGAAGGAAG GAAG	CTNS	ENSG00000040531.16	transcript	ENST00000046640.9	protein_coding		1523		chr17	TogoVar
CTNS_chr17_3631760_3668103	3635236	A A	AGGAAGGA others(31): Show AGGAAGGAAGGAAGGAAGGAAGGGAGGGAAGGAAGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG00733.hp1 HG00639.hp2 HG00733.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0067 a0002c0002t0004 a0002c0002t0067	a0002c0002t0004g0253 a0002c0002t0067g0273 a0002c0002t0004g0253 a0002c0002t0067g0273	2	372	0.0054	38	c.-18 others(49): Show c.-1825_-1824insGGAAGGAAGGAAGGAAGGAAGGGAGGGAAGGAAG GAAG	CTNS	ENSG00000040531.16	transcript	ENST00000046640.9	protein_coding		1523		chr17	TogoVar
CTNS_chr17_3631760_3668103	3656197	A A	ACCCCCCG others(31): Show ACCCCCCGCCAGCCCTCACCCCCTGCCATGCCCCTCCAC	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0272 a0002c0002t0007g0272	1	372	0.0027	38	c.462 others(53): Show c.462-285_462-284insCGCCAGCCCTCACCCCCTGCCATGCCCCTC CACCCCCC	CTNS	ENSG00000040531.16	transcript	ENST00000046640.9	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
CTSC_chr11_88288592_88342736	88291569	T T	TGAAAGAA others(31): Show TGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG01952.hp2 HG02451.hp2 others(19): Show HG00673.hp1 HG01952.hp2 HG02451.hp2 HG02559.hp2 HG02630.hp2 HG02717.hp1 HG03130.hp1 HG03130.hp2 HG03209.hp2 HG03225.hp1 HG03471.hp1 HG03471.hp2 HG04199.hp2 NA18522.hp2 NA18906.hp1 NA18994.hp2 NA19054.hp2 NA19056.hp2 NA19068.hp2 NA19084.hp2 NA20129.hp1 homoSapiens_chm13v2.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0007 a0001c0001 a0005c0007	a0001c0001t0001 a0005c0007t0001 a0001c0001t0001 a0005c0007t0001	a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0028 others(18): Show a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0028 a0001c0001t0001g0037 a0001c0001t0001g0131 a0001c0001t0001g0234 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0250 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0264 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0274 a0001c0001t0001g0296 a0005c0007t0001g0313	22	434	0.0507	38	c.24 others(49): Show c.2436_*2437insTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTC TTTC	CTSC	ENSG00000109861.17	transcript	ENST00000227266.10	protein_coding		2022		chr11	TogoVar

Search by Variant

Search

Search Results (Total: 5880 hits)