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
CDKL3_chr5_134293424_134372171	134326819	A A	ATATATAT others(11): Show ATATATATATATGTGTGTG	intron_variant intron_variant	MODIFIER	HG03669.hp1 NA18986.hp1 HG03669.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0122 a0001c0001t0001g0094 a0001c0001t0001g0122	2	210	0.0095	18	c.540 others(35): Show c.540-4917_540-4916insCACACACATATATATATA	CDKL3	ENSG00000006837.12	transcript	ENST00000265334.9	protein_coding	4/12			chr5	TogoVar
CDKL4_chr2_39170646_39248970	39226447	A A	ATATATAT others(11): Show ATATATATATTATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00741.hp2 HG01074.hp1 others(22): Show HG00323.hp1 HG00741.hp2 HG01074.hp1 HG01167.hp2 HG01175.hp2 HG01192.hp2 HG01346.hp2 HG01358.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01943.hp1 HG01978.hp2 HG02300.hp2 HG02486.hp2 HG02698.hp2 HG02738.hp1 HG03017.hp2 HG03239.hp1 HG03540.hp1 HG03704.hp2 HG04199.hp2 NA18612.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0003c0005t0001 a0001c0001t0001 a0003c0005t0001	a0001c0001t0001g0076 a0001c0001t0001g0088 a0001c0001t0001g0135 others(22): Show a0001c0001t0001g0076 a0001c0001t0001g0088 a0001c0001t0001g0135 a0001c0001t0001g0157 a0001c0001t0001g0161 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0202 a0003c0005t0001g0172	25	290	0.0862	18	c.169 others(33): Show c.169-505_169-488dupATATATATAATATATATA	CDKL4	ENSG00000205111.10	transcript	ENST00000451199.7	protein_coding	2/9			chr2	TogoVar
CDKL5_chrX_18420608_18645196	18439394	G G	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0061 a0001c0001t0061	a0001c0001t0061g0005 a0001c0001t0061g0005	1	192	0.0052	18	c.-16 others(39): Show c.-163+13710_-163+13727dupGTGTGTGTGTGTGTGTGT	CDKL5	ENSG00000008086.13	transcript	ENST00000623535.2	protein_coding	1/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
CDKL5_chrX_18420608_18645196	18480809	C C	CCTTCTTC others(11): Show CCTTCTTCCTTTCTTCTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0061 a0001c0001t0061	a0001c0001t0061g0005 a0001c0001t0061g0005	1	192	0.0052	18	c.-16 others(39): Show c.-162-26118_-162-26101dupCTTTCTTCTTTCTTCTTC	CDKL5	ENSG00000008086.13	transcript	ENST00000623535.2	protein_coding	1/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
CDKL5_chrX_18420608_18645196	18506889	T T	TGCAAATA others(11): Show TGCAAATATAAAACTTACA	intron_variant intron_variant	MODIFIER	NA19006.hp1 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0082 a0001c0001t0045g0082	1	192	0.0052	18	c.-16 others(33): Show c.-162-43_-162-26dupAAATATAAAACTTACAGC	CDKL5	ENSG00000008086.13	transcript	ENST00000623535.2	protein_coding	1/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
CDKL5_chrX_18420608_18645196	18509197	G G	GCACGCGC others(11): Show GCACGCGCGCACACACACA	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0170 a0001c0001t0010g0170	1	192	0.0052	18	c.65- others(33): Show c.65-1620_65-1619insGCGCGCACACACACACAC	CDKL5	ENSG00000008086.13	transcript	ENST00000623535.2	protein_coding	2/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
CDKL5_chrX_18420608_18645196	18509197	G G	GCACGCGC others(11): Show GCACGCGCGCGCGCACACA	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0186 a0001c0001t0004g0186	1	192	0.0052	18	c.65- others(33): Show c.65-1620_65-1619insGCGCGCGCGCACACACAC	CDKL5	ENSG00000008086.13	transcript	ENST00000623535.2	protein_coding	2/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
CDKN1A_chr6_36673714_36692332	36680340	G G	GTGTGTGT others(11): Show GTGTGTGTGTGTCTGTGTC	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0367 a0001c0001t0001g0367	1	454	0.0022	18	c.-6+ others(33): Show c.-6+1547_-6+1548insGTGTGTCTGTGTCTGTGT	CDKN1A	ENSG00000124762.14	transcript	ENST00000244741.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKN1A_chr6_36673714_36692332	36680340	G G	GTGTGTGT others(11): Show GTGTGTGTGTGTGTGTGTC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0373 a0001c0001t0001g0373	1	454	0.0022	18	c.-6+ others(33): Show c.-6+1547_-6+1548insGTGTGTGTGTGTCTGTGT	CDKN1A	ENSG00000124762.14	transcript	ENST00000244741.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKN1A_chr6_36673714_36692332	36681308	C C	CTTTTCTT others(11): Show CTTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0231	1	454	0.0022	18	c.-6+ others(33): Show c.-6+2513_-6+2514insTCTTTCTTTCTTTCTTTT	CDKN1A	ENSG00000124762.14	transcript	ENST00000244741.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKN1A_chr6_36673714_36692332	36681334	T T	TTCTTTCC others(11): Show TTCTTTCCTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0312 a0001c0001t0006g0312	1	454	0.0022	18	c.-6+ others(33): Show c.-6+2537_-6+2538insCTTTCCTTCTTTCTTTCT	CDKN1A	ENSG00000124762.14	transcript	ENST00000244741.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKN1A_chr6_36673714_36692332	36681334	T T	TTCTTTCT others(11): Show TTCTTTCTTTCCTTCTTTC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0313 a0001c0001t0006g0313	1	454	0.0022	18	c.-6+ others(33): Show c.-6+2537_-6+2538insCTTTCTTTCCTTCTTTCT	CDKN1A	ENSG00000124762.14	transcript	ENST00000244741.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKN2A_chr9_21962752_21979857	21971575	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG02258.hp1 HG02300.hp1 others(3): Show HG00099.hp1 HG02258.hp1 HG02300.hp1 HG02486.hp1 HG02809.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0022 a0001c0001t0002g0041 a0001c0001t0002g0147 a0001c0001t0001g0022 a0001c0001t0002g0041 a0001c0001t0002g0147	6	416	0.0144	18	c.151 others(33): Show c.151-368_151-367insAAAAAAAAAAAAAAAAAA	CDKN2A	ENSG00000147889.18	transcript	ENST00000304494.10	protein_coding	1/2			chr9	TogoVar
CDKN2A_chr9_21962752_21999392	21971575	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG02258.hp1 HG02300.hp1 others(3): Show HG00099.hp1 HG02258.hp1 HG02300.hp1 HG02486.hp1 HG02809.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0009 a0001c0001t0001g0278 a0001c0001t0002g0282 others(2): Show a0001c0001t0001g0009 a0001c0001t0001g0278 a0001c0001t0002g0282 a0001c0001t0002g0310 a0001c0001t0002g0344	6	404	0.0149	18	c.194 others(33): Show c.194-368_194-367insAAAAAAAAAAAAAAAAAA	CDKN2A	ENSG00000147889.18	transcript	ENST00000579755.2	protein_coding	1/2			chr9	TogoVar
CDKN2A_chr9_21962752_21999392	21981128	A A	ATATATAT others(11): Show ATATATATATATATACGTG	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	404	0.0025	18	c.194 others(35): Show c.194-9921_194-9920insCACGTATATATATATATA	CDKN2A	ENSG00000147889.18	transcript	ENST00000579755.2	protein_coding	1/2			chr9	TogoVar
CDKN2A_chr9_21962752_21999392	21990611	T T	TGAGAGAG others(11): Show TGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01123.hp2 HG01192.hp1 others(23): Show HG00140.hp1 HG01123.hp2 HG01192.hp1 HG01257.hp1 HG01257.hp2 HG01261.hp2 HG01361.hp1 HG01943.hp2 HG01975.hp1 HG02040.hp1 HG02056.hp1 HG02135.hp2 HG02572.hp2 HG02717.hp2 HG02897.hp1 HG03139.hp1 HG03195.hp1 HG03669.hp1 HG03704.hp2 HG03710.hp2 NA18906.hp1 NA18967.hp2 NA19006.hp1 NA19068.hp1 NA20300.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 others(23): Show a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0134 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0218 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0355 a0001c0001t0001g0381 a0001c0001t0001g0382 a0001c0001t0002g0248 a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0343 a0001c0001t0002g0346	26	404	0.0644	18	c.193 others(35): Show c.193+3510_193+3527dupTCTCTCTCTCTCTCTCTC	CDKN2A	ENSG00000147889.18	transcript	ENST00000579755.2	protein_coding	1/2			chr9	TogoVar
CDKN2D_chr19_10561460_10573979	10570547	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 NA18966.hp1 HG00423.hp2 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	410	0.0049	18	c.-18 others(29): Show c.-1895_-1894insTTTTTTTTTTTTTTTTTT	CDKN2D	ENSG00000129355.7	transcript	ENST00000393599.3	protein_coding		1569		chr19	TogoVar
CDNF_chr10_14814245_14843037	14826017	A A	AAGCAGAA others(11): Show AAGCAGAAGAAGAAGAAGG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01243.hp2 NA19005.hp1 HG00423.hp1 HG01243.hp2 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0054 a0001c0001t0002g0299 a0001c0001t0002g0315 a0001c0001t0002g0054 a0001c0001t0002g0299 a0001c0001t0002g0315	3	418	0.0072	18	c.244 others(33): Show c.244-398_244-397insCCTTCTTCTTCTTCTGCT	CDNF	ENSG00000185267.10	transcript	ENST00000465530.2	protein_coding	2/3			chr10	TogoVar
CDNF_chr10_14814245_14843037	14826029	G G	GAGAAGAA others(11): Show GAGAAGAAGAAGAAGAAGA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02080.hp1 HG01106.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0127 a0001c0001t0001g0119 a0001c0001t0001g0127	2	418	0.0048	18	c.244 others(33): Show c.244-427_244-410dupTCTTCTTCTTCTTCTTCT	CDNF	ENSG00000185267.10	transcript	ENST00000465530.2	protein_coding	2/3			chr10	TogoVar
CDNF_chr10_14814245_14843037	14826095	A A	AAGAAGAA others(11): Show AAGAAGAAGAAGCAGCAGC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00741.hp2 HG01074.hp1 HG00099.hp2 HG00741.hp2 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	3	418	0.0072	18	c.244 others(33): Show c.244-476_244-475insGCTGCTGCTTCTTCTTCT	CDNF	ENSG00000185267.10	transcript	ENST00000465530.2	protein_coding	2/3			chr10	TogoVar
CDNF_chr10_14814245_14843037	14826095	A A	AAGAAGAA others(11): Show AAGAAGAAGCAGCAGCAGC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01069.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0344 a0001c0001t0001g0347 a0001c0001t0001g0344 a0001c0001t0001g0347	2	418	0.0048	18	c.244 others(33): Show c.244-476_244-475insGCTGCTGCTGCTTCTTCT	CDNF	ENSG00000185267.10	transcript	ENST00000465530.2	protein_coding	2/3			chr10	TogoVar
CDON_chr11_125951821_126067866	125958565	A A	ATATGTGT others(11): Show ATATGTGTGTGTGTGTGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00738.hp2 HG01496.hp2 HG01891.hp2 others(2): Show HG00738.hp2 HG01496.hp2 HG01891.hp2 HG02622.hp2 NA19240.hp1	a0002 a0010 a0011 a0002 a0010 a0011	a0002c0013 a0010c0015 a0011c0018 a0002c0013 a0010c0015 a0011c0018	a0002c0013t0024 a0002c0013t0074 a0010c0015t0024 others(1): Show a0002c0013t0024 a0002c0013t0074 a0010c0015t0024 a0011c0018t0035	a0002c0013t0024g0217 a0002c0013t0074g0286 a0010c0015t0024g0142 others(2): Show a0002c0013t0024g0217 a0002c0013t0074g0286 a0010c0015t0024g0142 a0011c0018t0035g0312 a0011c0018t0035g0318	5	334	0.0150	18	c.23 others(29): Show c.2376_*2377insCACACACACACACACATA	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding	20/20	2376		chr11	TogoVar
CDON_chr11_125951821_126067866	125981970	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0009 a0009	a0009c0016 a0009c0016	a0009c0016t0034 a0009c0016t0034	a0009c0016t0034g0275 a0009c0016t0034g0275	1	334	0.0030	18	c.299 others(35): Show c.2996-659_2996-642dupAAAAAAAAAAAAAAAAAA	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding	16/19			chr11	TogoVar
CDON_chr11_125951821_126067866	126050495	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0092 a0002c0012t0092	a0002c0012t0092g0320 a0002c0012t0092g0320	1	334	0.0030	18	c.-62 others(37): Show c.-62+12066_-62+12083dupGTGTGTGTGTGTGTGTGT	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding	1/19			chr11	TogoVar
CDPF1_chr22_46239013_46255293	46242731	G G	GCGCGCGC others(11): Show GCGCGCGCGCGCGCGCACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0008 a0005c0005t0008	a0005c0005t0008g0020 a0005c0005t0008g0020	1	280	0.0036	18	c.23 others(29): Show c.2360_*2361insTGTGCGCGCGCGCGCGCG	CDPF1	ENSG00000205643.11	transcript	ENST00000314567.8	protein_coding		1281		chr22	TogoVar
CDR2L_chr17_74982632_75010800	74989410	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02258.hp2 HG02622.hp2 others(9): Show HG00423.hp2 HG02258.hp2 HG02622.hp2 HG02886.hp1 HG02896.hp2 HG02970.hp2 HG02976.hp1 HG03098.hp1 HG03225.hp1 HG03453.hp1 HG03453.hp2 NA19043.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0003c0005	a0001c0001t0001 a0001c0002t0009 a0001c0003t0001 others(5): Show a0001c0001t0001 a0001c0002t0009 a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0001c0003t0005 a0001c0003t0016 a0003c0005t0002	a0001c0001t0001g0137 a0001c0002t0009g0055 a0001c0002t0009g0056 others(8): Show a0001c0001t0001g0137 a0001c0002t0009g0055 a0001c0002t0009g0056 a0001c0002t0009g0058 a0001c0003t0001g0105 a0001c0003t0001g0106 a0001c0003t0002g0104 a0001c0003t0004g0107 a0001c0003t0005g0057 a0001c0003t0016g0031 a0003c0005t0002g0239	12	352	0.0341	18	c.79+ others(33): Show c.79+1308_79+1325dupCACACACACACACACACA	CDR2L	ENSG00000109089.7	transcript	ENST00000337231.5	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr17	TogoVar
CDRT4_chr17_15431015_15472621	15435748	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG03209.hp2 HG03453.hp1 others(1): Show HG02257.hp2 HG03209.hp2 HG03453.hp1 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0001 a0001c0001t0001 a0004c0004t0001	a0001c0001t0001g0009 a0001c0001t0001g0116 a0004c0004t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0116 a0004c0004t0001g0007	4	430	0.0093	18	c.20 others(29): Show c.2024_*2025insTTTTTTTTTTTTTTTTTT	CDRT4	ENSG00000239704.12	transcript	ENST00000619038.5	protein_coding		266		chr17	TogoVar
CDSN_chr6_31110087_31125446	31113721	T T	TGATCCTT others(11): Show TGATCCTTGTTGAAGCTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00642.hp2 HG00735.hp1 others(4): Show HG00099.hp1 HG00642.hp2 HG00735.hp1 HG01081.hp1 HG01106.hp1 HG01261.hp1 HG01361.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0004 a0001c0001 a0002c0002 a0003c0004	a0001c0001t0001 a0002c0002t0013 a0003c0004t0001 a0001c0001t0001 a0002c0002t0013 a0003c0004t0001	a0001c0001t0001g0014 a0001c0001t0001g0034 a0002c0002t0013g0080 others(1): Show a0001c0001t0001g0014 a0001c0001t0001g0034 a0002c0002t0013g0080 a0003c0004t0001g0003	7	446	0.0157	18	c.23 others(29): Show c.2303_*2304insCCAGCTTCAACAAGGATC	CDSN	ENSG00000204539.4	transcript	ENST00000376288.3	protein_coding		1365		chr6	TogoVar
CDT1_chr16_88798789_88814258	88803596	A A	ACGGCGCC others(11): Show ACGGCGCCCGCCGGCGAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	444	0.0023	18	c.-23 others(27): Show c.-236_-235insCGGCGCCCGCCGGCGAGT	CDT1	ENSG00000167513.9	transcript	ENST00000301019.9	protein_coding		192		chr16	TogoVar
CDT1_chr16_88798789_88814258	88809262	C C	CTGCAGAA others(11): Show CTGCAGAAGAGCCCTCGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	444	0.0023	18	c.98 others(27): Show c.984_*985insTGCAGAAGAGCCCTCGCT	CDT1	ENSG00000167513.9	transcript	ENST00000301019.9	protein_coding		5		chr16	TogoVar
CDV3_chr3_133568686_133595261	133576841	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0112 a0001c0001t0004g0112	1	386	0.0026	18	c.317 others(35): Show c.317+1732_317+1749dupTTTTTTTTTTTTTTTTTT	CDV3	ENSG00000091527.17	transcript	ENST00000264993.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
CDV3_chr3_133568686_133595261	133594433	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00609.hp1 HG00642.hp2 others(42): Show HG00408.hp2 HG00609.hp1 HG00642.hp2 HG00735.hp1 HG01123.hp2 HG01261.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG02027.hp2 HG02074.hp2 HG02165.hp1 HG02523.hp1 HG03490.hp1 HG03492.hp2 HG03710.hp1 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04228.hp1 NA18943.hp2 NA18950.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18966.hp1 NA18969.hp1 NA18985.hp2 NA18991.hp1 NA18992.hp2 NA18993.hp2 NA18995.hp2 NA18999.hp2 NA19012.hp2 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19074.hp2 NA19079.hp2 NA19085.hp2 NA19086.hp1 NA19088.hp2 NA19089.hp2 NA19091.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0012 a0001c0001t0001 a0001c0001t0007 a0001c0001t0012	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(20): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0041 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0129 a0001c0001t0001g0132 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0007g0003 a0001c0001t0012g0002	45	386	0.1166	18	c.63 others(29): Show c.6387_*6388insAAAAAAAAAAAAAAAAAA	CDV3	ENSG00000091527.17	transcript	ENST00000264993.8	protein_coding		4173		chr3	TogoVar
CDYL2_chr16_80592907_80809598	80672352	C C	CACACACA others(11): Show CACACACACACACAGAGAG	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG03669.hp1 HG02698.hp2 HG03669.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0046 a0001c0002t0058 a0001c0002t0046 a0001c0002t0058	a0001c0002t0046g0161 a0001c0002t0058g0160 a0001c0002t0046g0161 a0001c0002t0058g0160	2	258	0.0078	18	c.616 others(37): Show c.616+12185_616+12186insCTCTCTGTGTGTGTGTGT	CDYL2	ENSG00000166446.15	transcript	ENST00000570137.7	protein_coding	2/6			chr16	TogoVar
CDYL2_chr16_80592907_80809598	80702183	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0029 a0001c0002t0029	a0001c0002t0029g0017 a0001c0002t0029g0017	1	258	0.0039	18	c.25- others(35): Show c.25-17072_25-17055dupGTGTGTGTGTGTGTGTGT	CDYL2	ENSG00000166446.15	transcript	ENST00000570137.7	protein_coding	1/6			chr16	TogoVar
CDYL2_chr16_80592907_80809598	80712187	G G	GTATATAT others(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02074.hp1 HG03669.hp1 others(1): Show HG02071.hp2 HG02074.hp1 HG03669.hp1 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 a0001c0002t0058	a0001c0001t0001g0126 a0001c0002t0001g0155 a0001c0002t0003g0136 others(1): Show a0001c0001t0001g0126 a0001c0002t0001g0155 a0001c0002t0003g0136 a0001c0002t0058g0160	4	258	0.0155	18	c.25- others(35): Show c.25-27059_25-27058insTATATATATATATATATA	CDYL2	ENSG00000166446.15	transcript	ENST00000570137.7	protein_coding	1/6			chr16	TogoVar
CDYL2_chr16_80592907_80809598	80712191	G G	GTATATAT others(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02683.hp2 NA18939.hp1 HG02683.hp2 NA18939.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0168 a0001c0002t0002g0089 a0001c0002t0001g0168 a0001c0002t0002g0089	2	258	0.0078	18	c.25- others(35): Show c.25-27080_25-27063dupTATATATATATATATATA	CDYL2	ENSG00000166446.15	transcript	ENST00000570137.7	protein_coding	1/6			chr16	TogoVar
CDYL2_chr16_80592907_80809598	80712191	G G	GTGTATAT others(11): Show GTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG03471.hp2 HG00558.hp1 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0012 a0001c0002t0003 a0001c0002t0012	a0001c0002t0003g0042 a0001c0002t0012g0029 a0001c0002t0003g0042 a0001c0002t0012g0029	2	258	0.0078	18	c.25- others(35): Show c.25-27063_25-27062insTATATATATATATATACA	CDYL2	ENSG00000166446.15	transcript	ENST00000570137.7	protein_coding	1/6			chr16	TogoVar
CDYL2_chr16_80592907_80809598	80712215	A A	ATATATAT others(11): Show ATATATATATATATATATC	intron_variant intron_variant	MODIFIER	HG02523.hp1 NA19006.hp2 HG02523.hp1 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0238 a0001c0001t0001g0239	2	258	0.0078	18	c.25- others(35): Show c.25-27087_25-27086insGATATATATATATATATA	CDYL2	ENSG00000166446.15	transcript	ENST00000570137.7	protein_coding	1/6			chr16	TogoVar
CDYL2_chr16_80592907_80809598	80712215	A A	ATATATAT others(11): Show ATATATATATATATATCTC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00738.hp1 HG01074.hp1 others(5): Show HG00639.hp1 HG00738.hp1 HG01074.hp1 HG01081.hp1 HG01496.hp2 HG02451.hp1 HG03834.hp2 HG04204.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 others(3): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0021 a0001c0002t0022 a0001c0002t0050	a0001c0002t0001g0192 a0001c0002t0001g0250 a0001c0002t0002g0053 others(5): Show a0001c0002t0001g0192 a0001c0002t0001g0250 a0001c0002t0002g0053 a0001c0002t0004g0187 a0001c0002t0021g0028 a0001c0002t0021g0222 a0001c0002t0022g0194 a0001c0002t0050g0191	8	258	0.0310	18	c.25- others(35): Show c.25-27087_25-27086insGAGATATATATATATATA	CDYL2	ENSG00000166446.15	transcript	ENST00000570137.7	protein_coding	1/6			chr16	TogoVar
CDYL2_chr16_80592907_80809598	80712215	A A	ATATATAT others(11): Show ATATATATATATATCTCTC	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0188 a0001c0002t0001g0188	1	258	0.0039	18	c.25- others(35): Show c.25-27087_25-27086insGAGAGATATATATATATA	CDYL2	ENSG00000166446.15	transcript	ENST00000570137.7	protein_coding	1/6			chr16	TogoVar
CDYL_chr6_4771404_4960544	4788480	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG02300.hp2 HG01169.hp1 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0044 a0001c0001t0002g0162 a0001c0001t0002g0044 a0001c0001t0002g0162	2	250	0.0080	18	c.24+ others(35): Show c.24+11678_24+11695dupAAAAAAAAAAAAAAAAAA	CDYL	ENSG00000153046.18	transcript	ENST00000397588.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDYL_chr6_4771404_4960544	4819116	T T	TTCTCTCT others(11): Show TTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0100 a0001c0001t0002g0100	1	250	0.0040	18	c.24+ others(35): Show c.24+42339_24+42356dupCTCTCTCTCTCTCTCTCT	CDYL	ENSG00000153046.18	transcript	ENST00000397588.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDYL_chr6_4771404_4960544	4895393	A A	ATACATGT others(11): Show ATACATGTATGTATATATG	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0079 a0001c0001t0002g0079	1	250	0.0040	18	c.691 others(35): Show c.691+3015_691+3016insACATGTATGTATATATGT	CDYL	ENSG00000153046.18	transcript	ENST00000397588.8	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDYL_chr6_4771404_4960544	4900779	G G	GTGTGTAT others(11): Show GTGTGTATATATGTATGTA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0250 a0001c0001t0002g0250	1	250	0.0040	18	c.691 others(35): Show c.691+8401_691+8402insGTGTATATATGTATGTAT	CDYL	ENSG00000153046.18	transcript	ENST00000397588.8	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDYL_chr6_4771404_4960544	4900779	G G	GTGTGTGT others(11): Show GTGTGTGTATATATATATA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00609.hp1 HG04228.hp1 others(1): Show HG00408.hp1 HG00609.hp1 HG04228.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0102 a0001c0001t0001g0172 others(1): Show a0001c0001t0001g0061 a0001c0001t0001g0102 a0001c0001t0001g0172 a0001c0001t0001g0198	4	250	0.0160	18	c.691 others(35): Show c.691+8401_691+8402insGTGTGTATATATATATAT	CDYL	ENSG00000153046.18	transcript	ENST00000397588.8	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDYL_chr6_4771404_4960544	4900779	G G	GTGTGTGT others(11): Show GTGTGTGTGTATATATATA	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0005 a0001c0002t0004g0005	1	250	0.0040	18	c.691 others(35): Show c.691+8401_691+8402insGTGTGTGTATATATATAT	CDYL	ENSG00000153046.18	transcript	ENST00000397588.8	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDYL_chr6_4771404_4960544	4900779	G G	GTGTGTGT others(11): Show GTGTGTGTGTGTGTGTATA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0001 a0001c0002t0002g0001	1	250	0.0040	18	c.691 others(35): Show c.691+8401_691+8402insGTGTGTGTGTGTGTATAT	CDYL	ENSG00000153046.18	transcript	ENST00000397588.8	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDYL_chr6_4771404_4960544	4927428	C C	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02896.hp1 NA20752.hp2 HG02809.hp1 HG02896.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0010 a0001c0001t0001g0165 a0001c0001t0003g0244 a0001c0001t0001g0010 a0001c0001t0001g0165 a0001c0001t0003g0244	3	250	0.0120	18	c.692 others(35): Show c.692-8072_692-8055dupGTGTGTGTGTGTGTGTGT	CDYL	ENSG00000153046.18	transcript	ENST00000397588.8	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDYL_chr6_4771404_4960544	4929493	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	250	0.0040	18	c.692 others(35): Show c.692-6006_692-5989dupCACACACACACACACACA	CDYL	ENSG00000153046.18	transcript	ENST00000397588.8	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
CEACAM19_chr19_44666482_44689355	44668454	A A	ATAATATA others(11): Show ATAATATAATATATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	390	0.0026	18	c.-34 others(29): Show c.-3478_-3477insTAATATAATATATATATT	CEACAM19	ENSG00000186567.14	transcript	ENST00000358777.10	protein_coding		3027		chr19	TogoVar

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