Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CST9L_chr20_23559732_23573484	23560913	C C	CTCTCTCT others(21): Show CTCTCTCTTTCTTTCTTTCTTTCTTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	392	0.0026	28	c.40 others(39): Show c.4034_*4035insAAGAAAGAAAGAAAGAAAGAAAGAGAGA	CST9L	ENSG00000101435.5	transcript	ENST00000376979.4	protein_coding		3818		chr20	TogoVar
CST9L_chr20_23559732_23573484	23561084	C C	CTTCTTTC others(21): Show CTTCTTTCTTTCTTTCTTTCTTTCTTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	392	0.0026	28	c.38 others(39): Show c.3863_*3864insAGAAAGAAAGAAAGAAAGAAAGAAAGAA	CST9L	ENSG00000101435.5	transcript	ENST00000376979.4	protein_coding		3647		chr20	TogoVar
CSTA_chr3_122320248_122346969	122333540	G G	GAAGAAAG others(21): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01943.hp2 HG00735.hp1 HG01943.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0037 a0002c0003t0001g0037	2	378	0.0053	28	c.67- others(43): Show c.67-3981_67-3954dupAGAAAGAAAGAAAGAAAGAAAGAAAGAA	CSTA	ENSG00000121552.4	transcript	ENST00000264474.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
CSTF1_chr20_56387645_56411362	56404812	A A	ATTTTTTT others(21): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0035 a0001c0003t0035	a0001c0003t0035g0093 a0001c0003t0035g0093	1	422	0.0024	28	c.11 others(39): Show c.1111_*1112insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	CSTF1	ENSG00000101138.12	transcript	ENST00000217109.9	protein_coding	6/6	1112	INFO_REALIGN_3_PRIME	chr20	TogoVar
CT45A1_chrX_135708639_135728228	135715335	A A	ATATATAT others(21): Show ATATATATATAATACTTATATATAATACT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01943.hp1 HG02056.hp1 others(10): Show HG00621.hp1 HG01943.hp1 HG02056.hp1 HG02132.hp1 HG02572.hp1 HG02717.hp1 HG02818.hp1 HG02818.hp2 NA18948.hp1 NA18966.hp1 NA19012.hp1 NA19085.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0002 a0001c0001t0002 a0002c0002t0002	a0001c0001t0002g0004 a0002c0002t0002g0003 a0002c0002t0002g0006 others(6): Show a0001c0001t0002g0004 a0002c0002t0002g0003 a0002c0002t0002g0006 a0002c0002t0002g0016 a0002c0002t0002g0023 a0002c0002t0002g0024 a0002c0002t0002g0025 a0002c0002t0002g0037 a0002c0002t0002g0038	13	57	0.2281	28	c.-7+ others(43): Show c.-7+1662_-7+1663insTATATAATACTTATATATATAATACTTA	CT45A1	ENSG00000268940.6	transcript	ENST00000594565.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
CT45A3_chrX_135755044_135773191	135759370	A A	ATATATAT others(21): Show ATATATATATATATATACACCATATATGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0006 a0004c0005t0006	a0004c0005t0006g0082 a0004c0005t0006g0082	1	160	0.0063	28	c.98 others(37): Show c.981_*982insCCATATATGGTGTATATATATATATATA	CT45A3	ENSG00000269096.7	transcript	ENST00000598716.3	protein_coding		673		chrX	TogoVar
CTDP1_chr18_79674803_79759503	79745959	G G	GCCTGCGT others(21): Show GCCTGCGTCCCTCCCGTGCGCGTTCTGAC	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18967.hp2 NA19090.hp2 NA18939.hp1 NA18967.hp2 NA19090.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0305 a0004c0004t0001g0310 a0004c0004t0001g0311 a0004c0004t0001g0305 a0004c0004t0001g0310 a0004c0004t0001g0311	3	378	0.0079	28	c.274 others(47): Show c.2748-7691_2748-7690insTGCGTCCCTCCCGTGCGCGTTCTGAC CC	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTDP1_chr18_79674803_79759503	79746015	G G	GCCTGCGT others(21): Show GCCTGCGTCCCTCCCGTGCGCGTTCTGAC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00621.hp1 HG01952.hp1 others(6): Show HG00438.hp2 HG00621.hp1 HG01952.hp1 HG02129.hp1 HG02148.hp1 NA18944.hp2 NA18948.hp1 NA18971.hp2 NA19057.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0002 a0004c0004t0001 a0001c0001t0002 a0004c0004t0001	a0001c0001t0002g0148 a0004c0004t0001g0306 a0004c0004t0001g0314 others(6): Show a0001c0001t0002g0148 a0004c0004t0001g0306 a0004c0004t0001g0314 a0004c0004t0001g0321 a0004c0004t0001g0324 a0004c0004t0001g0325 a0004c0004t0001g0327 a0004c0004t0001g0328 a0004c0004t0001g0330	9	378	0.0238	28	c.274 others(47): Show c.2748-7635_2748-7634insTGCGTCCCTCCCGTGCGCGTTCTGAC CC	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTDP1_chr18_79674803_79759503	79746210	T T	TGCCTGCG others(21): Show TGCCTGCGTCCCTCCCGTGCGCGTTCTGA	intron_variant intron_variant	MODIFIER	HG02074.hp2 NA18979.hp2 HG02074.hp2 NA18979.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0307 a0004c0004t0001g0315 a0004c0004t0001g0307 a0004c0004t0001g0315	2	378	0.0053	28	c.274 others(47): Show c.2748-7442_2748-7441insGCCTGCGTCCCTCCCGTGCGCGTTCT GA	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	12/12			chr18	TogoVar
CTDP1_chr18_79674803_79759503	79746322	T T	TCCCCGCG others(21): Show TCCCCGCGTCCCTCCCGTGCGCGTTGTGA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02683.hp2 NA20905.hp2 HG01074.hp2 HG02683.hp2 NA20905.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0011 a0004c0004t0003 a0004c0004t0011	a0004c0004t0003g0335 a0004c0004t0003g0338 a0004c0004t0011g0333 a0004c0004t0003g0335 a0004c0004t0003g0338 a0004c0004t0011g0333	3	378	0.0079	28	c.274 others(47): Show c.2748-7306_2748-7305insGTGACCCCGCGTCCCTCCCGTGCGCG TT	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTDP1_chr18_79674803_79759503	79746344	G G	GTTCTGAC others(21): Show GTTCTGACCCCGCGTCCCTCCCGTGCGCA	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0318 a0004c0004t0001g0318	1	378	0.0027	28	c.274 others(47): Show c.2748-7299_2748-7298insCGCGTCCCTCCCGTGCGCATTCTGAC CC	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTDSP1_chr2_218394868_218410941	218400921	T T	TGGCTGCC others(21): Show TGGCTGCCCCGGAACTGAGGGCAAGGTGG	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	424	0.0024	28	c.68- others(41): Show c.68-642_68-615dupGGCTGCCCCGGAACTGAGGGCAAGGTGG	CTDSP1	ENSG00000144579.9	transcript	ENST00000273062.7	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
CTDSPL_chr3_37856880_37989469	37877680	C C	CTATAAAG others(21): Show CTATAAAGGAATACCTGAGATGGGTAATT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02257.hp2 HG02258.hp1 others(13): Show HG00741.hp1 HG02257.hp2 HG02258.hp1 HG02630.hp1 HG02698.hp1 HG02895.hp1 HG02896.hp1 HG03239.hp2 HG03453.hp2 HG03516.hp2 HG03540.hp1 HG04115.hp1 HG04199.hp1 HG04228.hp2 NA20300.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0030	a0001c0001t0001g0046 a0001c0001t0003g0001 a0001c0001t0004g0055 others(12): Show a0001c0001t0001g0046 a0001c0001t0003g0001 a0001c0001t0004g0055 a0001c0001t0005g0052 a0001c0001t0005g0058 a0001c0001t0006g0045 a0001c0001t0006g0048 a0001c0001t0006g0049 a0001c0001t0006g0050 a0001c0001t0014g0047 a0001c0001t0015g0056 a0001c0001t0015g0057 a0001c0001t0017g0054 a0001c0001t0017g0059 a0001c0001t0030g0053	16	166	0.0964	28	c.79+ others(45): Show c.79+15409_79+15410insGAATACCTGAGATGGGTAATTTATAAAG	CTDSPL	ENSG00000144677.15	transcript	ENST00000273179.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
CTNNA1_chr5_138748425_138940034	138852859	T T	TCGCGCGC others(21): Show TCGCGCGCGCGCACGCGCACACACACACA	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	180	0.0056	28	c.106 others(49): Show c.1062+25152_1062+25153insACGCGCACACACACACACGCGCGC GCGC	CTNNA1	ENSG00000044115.21	transcript	ENST00000302763.12	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
CTNNA1_chr5_138748425_138940034	138852871	G G	GCACGCGC others(21): Show GCACGCGCACACACACACGCGCGCGCGCA	intron_variant intron_variant	MODIFIER	HG00642.hp2 NA20905.hp1 HG00642.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0137 a0001c0001t0001g0129 a0001c0001t0001g0137	2	180	0.0111	28	c.106 others(49): Show c.1062+25156_1062+25157insGCGCACACACACACGCGCGCGCGC ACAC	CTNNA1	ENSG00000044115.21	transcript	ENST00000302763.12	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
CTNNA1_chr5_138748425_138940034	138852871	G G	GCGCGCGC others(21): Show GCGCGCGCACACACACACGCGCGCGCGCA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	180	0.0056	28	c.106 others(49): Show c.1062+25154_1062+25155insGCGCGCACACACACACGCGCGCGC GCAC	CTNNA1	ENSG00000044115.21	transcript	ENST00000302763.12	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
CTNNA2_chr2_79508051_80653780	79818821	T T	TTTTATAT others(21): Show TTTTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0020 a0002c0006t0001g0020	1	68	0.0147	28	c.299 others(47): Show c.299-39191_299-39190insTTATATATATATATATATATATATAT AT	CTNNA2	ENSG00000066032.19	transcript	ENST00000402739.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
CTNNA2_chr2_79508051_80653780	80559891	T T	TTTATATA others(21): Show TTTATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02258.hp2 HG03688.hp2 HG02145.hp1 HG02258.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0016 a0001c0001 a0001c0016	a0001c0001t0001 a0001c0016t0001 a0001c0001t0001 a0001c0016t0001	a0001c0001t0001g0011 a0001c0001t0001g0050 a0001c0016t0001g0045 a0001c0001t0001g0011 a0001c0001t0001g0050 a0001c0016t0001g0045	3	68	0.0441	28	c.174 others(47): Show c.1741+3998_1741+3999insTTATATATATATATATATATATATAC AC	CTNNA2	ENSG00000066032.19	transcript	ENST00000402739.9	protein_coding	12/18			chr2	TogoVar
CTNNA2_chr2_79508051_80653780	80559891	T T	TTTTTATA others(21): Show TTTTTATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02148.hp1 NA18995.hp1 HG02148.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0010 a0001c0002t0001g0064 a0001c0001t0001g0010 a0001c0002t0001g0064	2	68	0.0294	28	c.174 others(47): Show c.1741+3998_1741+3999insTTTTATATATATATATATATATATAC AC	CTNNA2	ENSG00000066032.19	transcript	ENST00000402739.9	protein_coding	12/18			chr2	TogoVar
CTNNA2_chr2_79508051_80653780	80569633	G G	GTTTTTTT others(21): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0047 a0001c0002t0001g0047	1	68	0.0147	28	c.174 others(47): Show c.1742-4503_1742-4502insTTTTTTTTTTTTTTTTTTTTTTTTTT TT	CTNNA2	ENSG00000066032.19	transcript	ENST00000402739.9	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
CTNNA3_chr10_65907523_67701195	66021852	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02622.hp1 HG02145.hp2 HG02622.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0009 a0001c0001 a0003c0009	a0001c0001t0007 a0003c0009t0003 a0001c0001t0007 a0003c0009t0003	a0001c0001t0007g0020 a0003c0009t0003g0036 a0001c0001t0007g0020 a0003c0009t0003g0036	2	46	0.0435	28	c.216 others(49): Show c.2160-33056_2160-33055insAAAAAAAAAAAAAAAAAAAAAAAA AAAA	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	15/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	66154719	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG06807.hp2 NA19080.hp1 HG06807.hp2 NA19080.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0003 a0002c0002t0002 a0002c0002t0003	a0002c0002t0002g0013 a0002c0002t0003g0039 a0002c0002t0002g0013 a0002c0002t0003g0039	2	46	0.0435	28	c.188 others(49): Show c.1885-51471_1885-51470insATATATATATATATATATATATAT ATAT	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	13/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	66189600	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0035 a0002c0002t0001g0035	1	46	0.0217	28	c.188 others(49): Show c.1885-86352_1885-86351insTATATATATATATATATATATATA TATA	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	13/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	66421897	G G	GATATATA others(21): Show GATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0009 a0001c0011t0009	a0001c0011t0009g0017 a0001c0011t0009g0017	1	46	0.0217	28	c.153 others(49): Show c.1532-42546_1532-42545insATATATATATATATATATATATAT ATAT	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	11/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	66845707	A A	AAAATAAA others(21): Show AAAATAAATAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG03195.hp1 HG02895.hp1 HG02897.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0007 a0001c0001 a0001c0005 a0001c0007	a0001c0001t0009 a0001c0005t0010 a0001c0007t0015 a0001c0001t0009 a0001c0005t0010 a0001c0007t0015	a0001c0001t0009g0031 a0001c0005t0010g0029 a0001c0007t0015g0016 a0001c0001t0009g0031 a0001c0005t0010g0029 a0001c0007t0015g0016	3	46	0.0652	28	c.104 others(49): Show c.1048-70184_1048-70183insATTTATTTATTTATTTATTTATTT ATTT	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	7/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	66978546	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0043 a0001c0001t0004g0043	1	46	0.0217	28	c.104 others(51): Show c.1047+201770_1047+201771insATATATATATATATATATATAT ATATAT	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	7/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	67133328	T T	TATATATA others(21): Show TATATATATATATATATATATATTTATAC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	46	0.0217	28	c.104 others(49): Show c.1047+46988_1047+46989insGTATAAATATATATATATATATAT ATAT	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	7/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	67143425	T T	TAAAAAAA others(21): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0005 a0001c0004t0007g0005	1	46	0.0217	28	c.104 others(49): Show c.1047+36891_1047+36892insTTTTTTTTTTTTTTTTTTTTTTTT TTTT	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	7/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	67566043	G G	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0003 a0001c0001t0016g0003	1	46	0.0217	28	c.293 others(47): Show c.293-26402_293-26375dupTATATATATATATATATATATATATA TA	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	3/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	67566058	T T	TATATATA others(21): Show TATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0042 a0002c0002t0003g0042	1	46	0.0217	28	c.293 others(47): Show c.293-26390_293-26389insGTATATATATATATATATATATATAT AT	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	3/17			chr10	TogoVar
CTNND2_chr5_10966836_11909446	11376322	G G	GTGCGTGT others(21): Show GTGCGTGTGTGTGTGTGTGTTCATGTATC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03471.hp1 HG03209.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0022 a0001c0001t0001g0004 a0001c0001t0001g0022	2	26	0.0769	28	c.117 others(47): Show c.1177+8342_1177+8343insGATACATGAACACACACACACACACG CA	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	7/21			chr5	TogoVar
CTNND2_chr5_10966836_11909446	11662150	T T	TATATATG others(21): Show TATATATGTGTATATATGTGTATATATAC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	26	0.0385	28	c.174 others(47): Show c.174+69958_174+69985dupGTATATATACACATATATACACATAT AT	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	2/21			chr5	TogoVar
CTNND2_chr5_10966836_11909446	11662177	A A	ACATATAT others(21): Show ACATATATGTGTATATATGTGTATATATG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03130.hp2 HG03209.hp2 others(5): Show HG02647.hp2 HG03130.hp2 HG03209.hp2 HG03225.hp1 HG03471.hp1 NA18522.hp1 NA18522.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0006 others(2): Show a0001c0001 a0001c0002 a0001c0006 a0001c0009 a0002c0008	a0001c0001t0001 a0001c0002t0001 a0001c0006t0002 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0006t0002 a0001c0009t0001 a0002c0008t0001	a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0021 others(5): Show a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0021 a0001c0002t0001g0006 a0001c0002t0001g0015 a0001c0006t0002g0025 a0001c0009t0001g0008 a0002c0008t0001g0014	8	26	0.3077	28	c.174 others(47): Show c.174+69931_174+69958dupCATATATACACATATATACACATATA TG	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	2/21			chr5	TogoVar
CTNND2_chr5_10966836_11909446	11662188	T T	TATATATG others(21): Show TATATATGTGTATATATGTATATATATAC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	26	0.0385	28	c.174 others(47): Show c.174+69920_174+69947dupGTATATATATACATATATACACATAT AT	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	2/21			chr5	TogoVar
CTNND2_chr5_10966836_11909446	11662263	G G	GTATATAT others(21): Show GTATATATATACATATATATGTGTATATA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0007 a0001c0003t0001g0007	1	26	0.0385	28	c.174 others(47): Show c.174+69872_174+69873insTATATACACATATATATGTATATATA TA	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	2/21			chr5	TogoVar
CTNND2_chr5_10966836_11909446	11879339	G G	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02922.hp1 HG00738.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0023 a0001c0001t0001g0012 a0001c0001t0001g0023	2	26	0.0769	28	c.37+ others(45): Show c.37+24477_37+24478insTATATATATATATATATATATATATATA	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	1/21			chr5	TogoVar
CTNS_chr17_3631760_3668103	3635193	T T	TGAAGGAA others(21): Show TGAAGGAAGGAAGAAAGGAAGGAAGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01258.hp1 NA18999.hp2 NA19240.hp2 HG01258.hp1 NA18999.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0065 a0001c0001t0080 a0001c0003t0016 a0001c0001t0065 a0001c0001t0080 a0001c0003t0016	a0001c0001t0065g0047 a0001c0001t0080g0074 a0001c0003t0016g0208 a0001c0001t0065g0047 a0001c0001t0080g0074 a0001c0003t0016g0208	3	372	0.0081	28	c.-18 others(39): Show c.-1868_-1867insGAAGGAAGGAAGAAAGGAAGGAAGGAAG	CTNS	ENSG00000040531.16	transcript	ENST00000046640.9	protein_coding		1566		chr17	TogoVar
CTNS_chr17_3631760_3668103	3635246	G G	GAGGGAAG others(21): Show GAGGGAAGGAAGGAAGGGAAGGAAGGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0113 a0001c0001t0002g0113	1	372	0.0027	28	c.-18 others(39): Show c.-1815_-1814insAGGGAAGGAAGGAAGGGAAGGAAGGGAA	CTNS	ENSG00000040531.16	transcript	ENST00000046640.9	protein_coding		1513		chr17	TogoVar
CTNS_chr17_3631760_3668103	3641359	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0129 a0001c0001t0011g0129	1	372	0.0027	28	c.61+ others(43): Show c.61+1118_61+1119insATATATATATATATATATATATATATAT	CTNS	ENSG00000040531.16	transcript	ENST00000046640.9	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
CTPS2_chrX_16582999_16717669	16661993	C C	CATATATA others(21): Show CATATATATACATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01167.hp1 HG01169.hp2 others(1): Show HG00438.hp1 HG01167.hp1 HG01169.hp2 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0173 a0001c0001t0001g0175 others(1): Show a0001c0001t0001g0123 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0210	4	226	0.0177	28	c.129 others(47): Show c.1296+5520_1296+5521insATATATATATATATATATGTATATAT AT	CTPS2	ENSG00000047230.15	transcript	ENST00000359276.9	protein_coding	13/18			chrX	TogoVar
CTR9_chr11_10746246_10784746	10747332	T T	TATATAAA others(21): Show TATATAAATATATATTATATATTATATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG02809.hp2 HG03041.hp1 others(3): Show HG00741.hp2 HG02809.hp2 HG03041.hp1 HG03453.hp1 HG03471.hp2 NA20300.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0002 a0001c0003t0001 a0001c0003t0002	a0001c0003t0001g0019 a0001c0003t0001g0033 a0001c0003t0002g0025 a0001c0003t0001g0019 a0001c0003t0001g0033 a0001c0003t0002g0025	6	406	0.0148	28	c.-40 others(39): Show c.-4081_-4080insATATAAATATATATTATATATTATATAA	CTR9	ENSG00000198730.9	transcript	ENST00000361367.7	protein_coding		3913		chr11	TogoVar
CTR9_chr11_10746246_10784746	10747355	A A	ATATATTT others(21): Show ATATATTTATATTATATATAAAATATAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18953.hp1 NA18961.hp2 NA18966.hp2 others(3): Show NA18953.hp1 NA18961.hp2 NA18966.hp2 NA19001.hp2 NA19070.hp2 NA19074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0008 a0001c0002t0001g0120 a0001c0002t0001g0145 a0001c0002t0001g0008 a0001c0002t0001g0120 a0001c0002t0001g0145	6	406	0.0148	28	c.-40 others(39): Show c.-4058_-4057insTATATTTATATTATATATAAAATATAAT	CTR9	ENSG00000198730.9	transcript	ENST00000361367.7	protein_coding		3890		chr11	TogoVar
CTSC_chr11_88288592_88342736	88291542	G G	GAAGGAGA others(21): Show GAAGGAGAGAGAGAGATGAAAGAAAGAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 NA20129.hp2 HG02922.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0237 a0001c0001t0001g0134 a0001c0001t0001g0237	2	434	0.0046	28	c.24 others(39): Show c.2463_*2464insTTTCTTTCTTTCATCTCTCTCTCTCCTT	CTSC	ENSG00000109861.17	transcript	ENST00000227266.10	protein_coding		2049		chr11	TogoVar
CTSC_chr11_88288592_88342736	88291569	T T	TGAAAGAA others(21): Show TGAAAGAAAGAAAGAAAGAAAGAAAGAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp1 HG02004.hp2 HG02647.hp2 others(5): Show HG01070.hp1 HG02004.hp2 HG02647.hp2 HG03225.hp2 HG03540.hp1 HG03688.hp1 NA18967.hp1 NA19070.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0025 a0001c0001t0001g0046 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0025 a0001c0001t0001g0046 a0001c0001t0001g0063 a0001c0001t0001g0075 a0001c0001t0001g0125 a0002c0002t0001g0027	8	434	0.0184	28	c.24 others(39): Show c.2409_*2436dupTTTCTTTCTTTCTTTCTTTCTTTCTTTC	CTSC	ENSG00000109861.17	transcript	ENST00000227266.10	protein_coding		2022		chr11	TogoVar
CTSD_chr11_1747755_1768927	1764940	A A	ATGTGTAT others(21): Show ATGTGTATATATATATACACACACGTATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG03239.hp1 HG00738.hp2 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0003 a0001c0005t0014 a0001c0001t0003 a0001c0005t0014	a0001c0001t0003g0074 a0001c0005t0014g0186 a0001c0001t0003g0074 a0001c0005t0014g0186	2	386	0.0052	28	c.-10 others(39): Show c.-1082_-1081insCATACGTGTGTGTATATATATATACACA	CTSD	ENSG00000117984.15	transcript	ENST00000236671.7	protein_coding		1014		chr11	TogoVar
CTSK_chr1_150791208_150813260	150807005	T T	TTCTCTCT others(21): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	392	0.0026	28	c.-1- others(41): Show c.-1-200_-1-199insGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CTSK	ENSG00000143387.14	transcript	ENST00000271651.8	protein_coding	1/7			chr1	TogoVar
CTSS_chr1_150725188_150770778	150744580	T T	TATTATAT others(21): Show TATTATATATGTATATTATGTATACATAA	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0248 a0001c0001t0003g0248	1	344	0.0029	28	c.896 others(45): Show c.896+3196_896+3197insTTATGTATACATAATATACATATATAAT	CTSS	ENSG00000163131.12	transcript	ENST00000368985.8	protein_coding	7/7			chr1	TogoVar
CTTNBP2NL_chr1_112391214_112466164	112391990	C C	CAATAAAT others(21): Show CAATAAATAAATAAATAAATAAATAAATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0026 a0001c0005t0026	a0001c0005t0026g0298 a0001c0005t0026g0298	1	324	0.0031	28	c.-44 others(39): Show c.-4416_-4415insAATAAATAAATAAATAAATAAATAAATA	CTTNBP2NL	ENSG00000143079.15	transcript	ENST00000271277.11	protein_coding		4223		chr1	TogoVar
CTTNBP2NL_chr1_112391214_112466164	112465445	A A	AACACACA others(21): Show AACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19065.hp2 NA19081.hp1 NA19065.hp2 NA19081.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0100 a0001c0002t0002g0114 a0001c0002t0002g0100 a0001c0002t0002g0114	2	324	0.0062	28	c.80 others(39): Show c.8033_*8034insACACACACACACACACACACACACACAC	CTTNBP2NL	ENSG00000143079.15	transcript	ENST00000271277.11	protein_coding		4282		chr1	TogoVar
CTTNBP2_chr7_117705651_117878441	117864679	T T	TATATATA others(21): Show TATATATATTCATATATATTCATATATTC	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0163 a0001c0001t0002g0163	1	164	0.0061	28	c.82- others(43): Show c.82-3391_82-3364dupGAATATATGAATATATATGAATATATAT	CTTNBP2	ENSG00000077063.11	transcript	ENST00000160373.8	protein_coding	1/22			chr7	TogoVar

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