JoGo: Joint Open Genome and Omics Platform

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
CLIC4_chr1_24740447_24849321	24798644	C C	CCCACGGT others(12): Show CCCACGGTGTCCCTCTCTTT	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0194 a0001c0001t0002g0194	1	344	0.0029	19	c.182 others(34): Show c.182+801_182+819dupGTCCCTCTCTTTCCACGGT	CLIC4	ENSG00000169504.15	transcript	ENST00000374379.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
CLIC4_chr1_24740447_24849321	24800662	T T	TTGGAAAG others(12): Show TTGGAAAGTTTTGTGAAAGA	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0282 a0001c0001t0001g0282	1	344	0.0029	19	c.182 others(36): Show c.182+2813_182+2814insGAAAGTTTTGTGAAAGATG	CLIC4	ENSG00000169504.15	transcript	ENST00000374379.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
CLIC4_chr1_24740447_24849321	24834920	A A	AGGGAGAG others(12): Show AGGGAGAGGGAGAGGGAGAC	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0099 a0001c0001t0004g0099	1	344	0.0029	19	c.416 others(36): Show c.416-4908_416-4890dupGGGAGACGGGAGAGGGAGA	CLIC4	ENSG00000169504.15	transcript	ENST00000374379.9	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
CLIC5_chr6_45893456_46020860	45922823	A A	AGAGAGAG others(12): Show AGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02622.hp2 HG02257.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0040 a0001c0001t0013g0042 a0001c0001t0013g0040 a0001c0001t0013g0042	2	340	0.0059	19	c.407 others(36): Show c.407-8415_407-8414insCTCTCTCTCTCTCTCTCTC	CLIC5	ENSG00000112782.19	transcript	ENST00000339561.12	protein_coding	4/5			chr6	TogoVar
CLIC5_chr6_45893456_46020860	46016124	G G	GAAGGGGA others(12): Show GAAGGGGAAGAGGAAGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18612.hp2 NA18967.hp1 NA19088.hp1 NA18612.hp2 NA18967.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0003g0206 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0003g0206	3	340	0.0088	19	c.-60 others(28): Show c.-601_-583dupTCCCCTTCCTCTTCCCCTT	CLIC5	ENSG00000112782.19	transcript	ENST00000339561.12	protein_coding		265		chr6	TogoVar
CLIP1_chr12_122266469_122427669	122293002	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0004 a0001c0010t0004	a0001c0010t0004g0009 a0001c0010t0004g0009	1	234	0.0043	19	c.359 others(38): Show c.3595-4480_3595-4462dupTTTTTTTTTTTTTTTTTTT	CLIP1	ENSG00000130779.22	transcript	ENST00000620786.5	protein_coding	20/25			chr12	TogoVar
CLIP1_chr12_122266469_122427669	122299612	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03471.hp2 HG03453.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0006 a0001c0009t0006 a0001c0001t0006 a0001c0009t0006	a0001c0001t0006g0222 a0001c0009t0006g0045 a0001c0001t0006g0222 a0001c0009t0006g0045	2	234	0.0086	19	c.359 others(40): Show c.3594+10131_3594+10149dupTTTTTTTTTTTTTTTTTTT	CLIP1	ENSG00000130779.22	transcript	ENST00000620786.5	protein_coding	20/25			chr12	TogoVar
CLIP1_chr12_122266469_122427669	122330597	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp2 NA18522.hp2 HG03041.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0087 a0001c0001t0013g0088 a0001c0001t0013g0087 a0001c0001t0013g0088	2	234	0.0086	19	c.286 others(38): Show c.2868-2190_2868-2172dupAAAAAAAAAAAAAAAAAAA	CLIP1	ENSG00000130779.22	transcript	ENST00000620786.5	protein_coding	15/25			chr12	TogoVar
CLIP1_chr12_122266469_122427669	122379943	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG02083.hp2 others(1): Show HG00099.hp1 HG00140.hp1 HG02083.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0176 a0001c0001t0002g0180 a0001c0001t0002g0209 others(1): Show a0001c0001t0002g0176 a0001c0001t0002g0180 a0001c0001t0002g0209 a0001c0001t0005g0202	4	234	0.0171	19	c.85+ others(32): Show c.85+424_85+425insTTTTTTTTTTTTTTTTTTT	CLIP1	ENSG00000130779.22	transcript	ENST00000620786.5	protein_coding	2/25			chr12	TogoVar
CLIP2_chr7_74284407_74410935	74390162	G G	GAAAAAGA others(12): Show GAAAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0121 a0001c0002t0001g0121	1	278	0.0036	19	c.272 others(36): Show c.2720+905_2720+906insAAAGAAAGAAAGAAAGAAA	CLIP2	ENSG00000106665.16	transcript	ENST00000223398.11	protein_coding	13/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
CLK4_chr5_178597664_178632050	178627223	C C	CCCCCCCC others(12): Show CCCCCCCCCCCGCCCCCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	384	0.0026	19	c.-27 others(28): Show c.-279_-278insCGGGGGGGCGGGGGGGGGG	CLK4	ENSG00000113240.14	transcript	ENST00000316308.9	protein_coding		174		chr5	TogoVar
CLK4_chr5_178597664_178632050	178627223	C C	CCCCCCCC others(12): Show CCCCCCCCCCGCCCCCCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	384	0.0026	19	c.-27 others(28): Show c.-279_-278insCGGGGGGGGCGGGGGGGGG	CLK4	ENSG00000113240.14	transcript	ENST00000316308.9	protein_coding		174		chr5	TogoVar
CLK4_chr5_178597664_178632050	178627223	C C	CCCCCCCC others(12): Show CCCCCCCCCGCCCCCCCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	384	0.0026	19	c.-27 others(28): Show c.-279_-278insCGGGGGGGGGCGGGGGGGG	CLK4	ENSG00000113240.14	transcript	ENST00000316308.9	protein_coding		174		chr5	TogoVar
CLMP_chr11_123064872_123200248	123150480	A A	AAAGAAAG others(12): Show AAAGAAAGAAAGAAAGAAGG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0231 a0001c0001t0002g0231	1	254	0.0039	19	c.28+ others(36): Show c.28+44432_28+44433insCCTTCTTTCTTTCTTTCTT	CLMP	ENSG00000166250.12	transcript	ENST00000448775.4	protein_coding	1/6			chr11	TogoVar
CLN3_chr16_28472279_28497074	28478617	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02922.hp1 HG02280.hp2 HG02922.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0223 a0002c0002t0001g0227 a0002c0002t0001g0223 a0002c0002t0001g0227	2	360	0.0056	19	c.105 others(36): Show c.1057-759_1057-741dupTTTTTTTTTTTTTTTTTTT	CLN3	ENSG00000188603.22	transcript	ENST00000636147.2	protein_coding	14/15			chr16	TogoVar
CLNK_chr4_10481395_10689768	10535211	A A	AGAGAAAG others(12): Show AGAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0137 a0001c0001t0002g0137	1	320	0.0031	19	c.603 others(36): Show c.603-2929_603-2928insCTTTCTTTCTTTCTTTCTC	CLNK	ENSG00000109684.16	transcript	ENST00000226951.11	protein_coding	11/18			chr4	TogoVar
CLNK_chr4_10481395_10689768	10535264	A A	AAAGAAAG others(12): Show AAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00544.hp2 NA19079.hp2 HG00544.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0012 a0001c0001t0002 a0001c0001t0012	a0001c0001t0002g0298 a0001c0001t0012g0025 a0001c0001t0002g0298 a0001c0001t0012g0025	2	320	0.0063	19	c.603 others(36): Show c.603-2982_603-2981insCTTTCTTTCTTTCTTTCTT	CLNK	ENSG00000109684.16	transcript	ENST00000226951.11	protein_coding	11/18			chr4	TogoVar
CLNK_chr4_10481395_10689768	10578579	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00733.hp1 HG01081.hp2 others(9): Show HG00639.hp2 HG00733.hp1 HG01081.hp2 HG01515.hp2 HG02040.hp1 HG02129.hp2 HG03471.hp2 HG04228.hp1 NA18964.hp2 NA18966.hp1 NA18985.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0028 a0001c0001t0040 a0001c0001t0060 a0001c0001t0072	a0001c0001t0001g0024 a0001c0001t0003g0191 a0001c0001t0004g0050 others(9): Show a0001c0001t0001g0024 a0001c0001t0003g0191 a0001c0001t0004g0050 a0001c0001t0006g0148 a0001c0001t0006g0176 a0001c0001t0006g0178 a0001c0001t0009g0150 a0001c0001t0009g0155 a0001c0001t0028g0219 a0001c0001t0040g0234 a0001c0001t0060g0071 a0001c0001t0072g0177	12	320	0.0375	19	c.112 others(36): Show c.112+6329_112+6347dupAAAAAAAAAAAAAAAAAAA	CLNK	ENSG00000109684.16	transcript	ENST00000226951.11	protein_coding	4/18			chr4	TogoVar
CLNK_chr4_10481395_10689768	10610033	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0011	1	320	0.0031	19	c.12- others(36): Show c.12-12003_12-11985dupAAAAAAAAAAAAAAAAAAA	CLNK	ENSG00000109684.16	transcript	ENST00000226951.11	protein_coding	2/18			chr4	TogoVar
CLOCK_chr4_55422903_55551909	55445582	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01943.hp2 NA18986.hp1 NA19002.hp2 others(2): Show HG01943.hp2 NA18986.hp1 NA19002.hp2 NA19070.hp1 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0021 others(1): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0021 a0001c0001t0038	a0001c0001t0001g0084 a0001c0001t0001g0137 a0001c0001t0008g0108 others(2): Show a0001c0001t0001g0084 a0001c0001t0001g0137 a0001c0001t0008g0108 a0001c0001t0021g0095 a0001c0001t0038g0131	5	338	0.0148	19	c.154 others(36): Show c.1540-816_1540-798dupAAAAAAAAAAAAAAAAAAA	CLOCK	ENSG00000134852.15	transcript	ENST00000513440.6	protein_coding	18/22			chr4	TogoVar
CLPB_chr11_72280495_72439531	72286223	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00735.hp2 HG02080.hp2 NA20905.hp2 HG00735.hp2 HG02080.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0079 a0001c0001t0086 a0001c0001t0108 a0001c0001t0079 a0001c0001t0086 a0001c0001t0108	a0001c0001t0079g0008 a0001c0001t0086g0111 a0001c0001t0108g0029 a0001c0001t0079g0008 a0001c0001t0086g0111 a0001c0001t0108g0029	3	206	0.0146	19	c.71 others(30): Show c.7125_*7143dupAAAAAAAAAAAAAAAAAAA	CLPB	ENSG00000162129.15	transcript	ENST00000294053.9	protein_coding	17/17	7143		chr11	TogoVar
CLPTM1_chr19_44950380_44998341	44973762	T T	TTTTTTTG others(12): Show TTTTTTTGTTTTTGTTTTTG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0041 a0001c0001t0010g0041	1	374	0.0027	19	c.309 others(34): Show c.309+558_309+559insGTTTTTGTTTTTGTTTTTT	CLPTM1	ENSG00000104853.16	transcript	ENST00000337392.10	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
CLSTN1_chr1_9723926_9828965	9755762	G G	GATATAGG others(12): Show GATATAGGATCAGCACCGTA	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0067 a0003c0004t0002g0067	1	270	0.0037	19	c.245 others(34): Show c.245-472_245-454dupTACGGTGCTGATCCTATAT	CLSTN1	ENSG00000171603.18	transcript	ENST00000377298.9	protein_coding	3/18			chr1	TogoVar
CLSTN2_chr3_139930185_140582397	139998336	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG03688.hp1 HG00621.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0042 a0001c0001t0001 a0001c0001t0042	a0001c0001t0001g0019 a0001c0001t0042g0011 a0001c0001t0001g0019 a0001c0001t0042g0011	2	110	0.0182	19	c.109 others(38): Show c.109+62855_109+62873dupTTTTTTTTTTTTTTTTTTT	CLSTN2	ENSG00000158258.16	transcript	ENST00000458420.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
CLSTN2_chr3_139930185_140582397	140076625	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp1 NA19043.hp1 HG02280.hp1 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0006 a0002c0002t0028 a0001c0001t0006 a0002c0002t0028	a0001c0001t0006g0040 a0002c0002t0028g0005 a0001c0001t0006g0040 a0002c0002t0028g0005	2	110	0.0182	19	c.110 others(38): Show c.110-99316_110-99298dupTTTTTTTTTTTTTTTTTTT	CLSTN2	ENSG00000158258.16	transcript	ENST00000458420.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
CLSTN2_chr3_139930185_140582397	140127031	A A	ATATCATG others(12): Show ATATCATGTGTCATTATATG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00738.hp1 HG01081.hp1 others(30): Show HG00735.hp1 HG00738.hp1 HG01081.hp1 HG01109.hp2 HG01169.hp1 HG01496.hp2 HG01884.hp2 HG02109.hp1 HG02280.hp2 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02723.hp1 HG02809.hp1 HG02922.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03209.hp2 HG03225.hp1 HG03492.hp2 HG03516.hp2 HG03688.hp1 HG03704.hp2 HG04199.hp1 HG04199.hp2 NA18906.hp2 NA18977.hp1 NA19030.hp2 NA19066.hp1 NA19066.hp2 NA19087.hp2 NA20300.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0007	a0001c0001 a0001c0003 a0001c0009 others(8): Show a0001c0001 a0001c0003 a0001c0009 a0001c0015 a0002c0002 a0002c0004 a0002c0017 a0002c0021 a0002c0022 a0004c0013 a0007c0024	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(24): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0011 a0001c0001t0025 a0001c0001t0042 a0001c0001t0043 a0001c0003t0003 a0001c0003t0007 a0001c0003t0020 a0001c0009t0010 a0001c0009t0022 a0001c0015t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 a0002c0002t0027 a0002c0002t0040 a0002c0004t0001 a0002c0004t0037 a0002c0017t0005 a0002c0021t0009 a0002c0022t0010 a0004c0013t0008 a0007c0024t0007	a0001c0001t0001g0003 a0001c0001t0001g0045 a0001c0001t0001g0048 others(30): Show a0001c0001t0001g0003 a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0002g0105 a0001c0001t0005g0035 a0001c0001t0005g0089 a0001c0001t0006g0095 a0001c0001t0011g0031 a0001c0001t0025g0004 a0001c0001t0042g0011 a0001c0001t0043g0064 a0001c0003t0003g0080 a0001c0003t0007g0068 a0001c0003t0020g0009 a0001c0009t0010g0110 a0001c0009t0022g0049 a0001c0015t0001g0021 a0002c0002t0001g0007 a0002c0002t0001g0066 a0002c0002t0001g0074 a0002c0002t0002g0002 a0002c0002t0004g0107 a0002c0002t0005g0050 a0002c0002t0027g0058 a0002c0002t0040g0078 a0002c0004t0001g0072 a0002c0004t0037g0073 a0002c0017t0005g0027 a0002c0021t0009g0030 a0002c0022t0010g0020 a0004c0013t0008g0099 a0004c0013t0008g0106 a0007c0024t0007g0060	33	110	0.3000	19	c.110 others(38): Show c.110-48913_110-48895dupGTGTCATTATATGTATCAT	CLSTN2	ENSG00000158258.16	transcript	ENST00000458420.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
CLUH_chr17_2684387_2716764	2693141	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0003 a0001c0010t0003	a0001c0010t0003g0321 a0001c0010t0003g0321	1	420	0.0024	19	c.323 others(36): Show c.3232-282_3232-281insTTTTTTTTTTTTTTTTTTT	CLUH	ENSG00000132361.18	transcript	ENST00000651024.2	protein_coding	19/25			chr17	TogoVar
CLVS1_chr8_61282970_61506629	61357494	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp2 NA19002.hp2 HG02486.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0048 a0001c0001t0002g0055 a0001c0001t0002g0048 a0001c0001t0002g0055	2	184	0.0109	19	c.456 others(38): Show c.456-19101_456-19083dupTTTTTTTTTTTTTTTTTTT	CLVS1	ENSG00000177182.11	transcript	ENST00000325897.5	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
CLVS2_chr6_122991235_123077925	123075401	C C	CCCTTCCC others(12): Show CCCTTCCCTTCCCTTCCCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0149 a0001c0001t0017g0149	1	336	0.0030	19	c.11 others(32): Show c.11640_*11641insCCTTCCCTTCCCTTCCCTT	CLVS2	ENSG00000146352.13	transcript	ENST00000275162.10	protein_coding		2477		chr6	TogoVar
CLYBL_chr13_99601690_99897570	99601833	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG00733.hp2 HG03669.hp1 HG00609.hp1 HG00733.hp2 HG03669.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0001c0001t0001 a0002c0002t0001 a0003c0003t0001	a0001c0001t0001g0183 a0002c0002t0001g0163 a0003c0003t0001g0195 a0001c0001t0001g0183 a0002c0002t0001g0163 a0003c0003t0001g0195	3	218	0.0138	19	c.-48 others(30): Show c.-4863_-4862insTTTTTTTTTTTTTTTTTTT	CLYBL	ENSG00000125246.16	transcript	ENST00000339105.9	protein_coding		4856		chr13	TogoVar
CLYBL_chr13_99601690_99897570	99833030	A A	ATATATAT others(12): Show ATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	218	0.0046	19	c.250 others(38): Show c.250-25830_250-25829insATATATATATATATATTTT	CLYBL	ENSG00000125246.16	transcript	ENST00000339105.9	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
CLYBL_chr13_99601690_99897570	99833030	A A	ATATATAT others(12): Show ATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	218	0.0046	19	c.250 others(38): Show c.250-25830_250-25829insATATATATATATTTTTTTT	CLYBL	ENSG00000125246.16	transcript	ENST00000339105.9	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
CMAS_chr12_22041218_22070668	22060333	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0067 a0001c0001t0002g0067	1	450	0.0022	19	c.694 others(34): Show c.694-490_694-472dupAAAAAAAAAAAAAAAAAAA	CMAS	ENSG00000111726.13	transcript	ENST00000229329.7	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
CMC1_chr3_28236619_28330142	28274206	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	338	0.0030	19	c.109 others(38): Show c.109+10831_109+10832insTTTTTTTTTTTTTTTTTTT	CMC1	ENSG00000187118.14	transcript	ENST00000466830.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMC1_chr3_28236619_28330142	28305779	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0272 a0001c0001t0032g0272	1	338	0.0030	19	c.110 others(38): Show c.110-10541_110-10523dupTTTTTTTTTTTTTTTTTTT	CMC1	ENSG00000187118.14	transcript	ENST00000466830.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMC2_chr16_80961448_81011885	80965200	A A	ATATGCAT others(12): Show ATATGCATATATATATATGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01358.hp2 HG01981.hp2 others(26): Show HG01243.hp1 HG01358.hp2 HG01981.hp2 HG02027.hp1 HG02523.hp2 HG02615.hp1 HG02647.hp1 HG02818.hp2 HG02896.hp2 HG02897.hp2 HG02965.hp2 HG03540.hp1 NA18944.hp2 NA18948.hp2 NA18953.hp1 NA18955.hp2 NA18961.hp1 NA18962.hp2 NA18965.hp1 NA18968.hp1 NA18974.hp2 NA18984.hp1 NA18990.hp2 NA19009.hp2 NA19010.hp1 NA19030.hp2 NA19078.hp1 NA19089.hp2 NA19091.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0008 a0001c0001t0009 a0001c0001t0019 others(16): Show a0001c0001t0008 a0001c0001t0009 a0001c0001t0019 a0001c0001t0020 a0001c0001t0024 a0001c0001t0040 a0001c0001t0045 a0001c0001t0046 a0001c0001t0120 a0001c0001t0123 a0001c0001t0127 a0001c0001t0139 a0001c0001t0140 a0001c0001t0141 a0001c0001t0170 a0001c0001t0171 a0001c0001t0172 a0001c0001t0173 a0002c0002t0090	a0001c0001t0008g0007 a0001c0001t0009g0037 a0001c0001t0009g0038 others(22): Show a0001c0001t0008g0007 a0001c0001t0009g0037 a0001c0001t0009g0038 a0001c0001t0009g0179 a0001c0001t0009g0192 a0001c0001t0019g0036 a0001c0001t0019g0188 a0001c0001t0019g0215 a0001c0001t0020g0190 a0001c0001t0024g0267 a0001c0001t0024g0270 a0001c0001t0040g0033 a0001c0001t0045g0264 a0001c0001t0046g0269 a0001c0001t0120g0168 a0001c0001t0123g0268 a0001c0001t0127g0176 a0001c0001t0139g0266 a0001c0001t0140g0260 a0001c0001t0141g0284 a0001c0001t0170g0311 a0001c0001t0171g0312 a0001c0001t0172g0313 a0001c0001t0173g0314 a0002c0002t0090g0073	29	408	0.0711	19	c.10 others(32): Show c.10892_*10893insACATATATATATATGCATA	CMC2	ENSG00000103121.9	transcript	ENST00000219400.8	protein_coding		1247		chr16	TogoVar
CMC2_chr16_80961448_81011885	80965245	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0029 a0001c0001t0050g0029	1	408	0.0025	19	c.10 others(32): Show c.10847_*10848insAAAAAAAAAAAAAAAAAAA	CMC2	ENSG00000103121.9	transcript	ENST00000219400.8	protein_coding		1202		chr16	TogoVar
CMIP_chr16_81439808_81716762	81500252	T T	TTCGTCCT others(12): Show TTCGTCCTTCCTTCCTTCCG	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0231 a0001c0001t0002g0231	1	268	0.0037	19	c.300 others(38): Show c.300+54713_300+54714insGTCCTTCCTTCCTTCCGTC	CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
CMIP_chr16_81439808_81716762	81520569	G G	GAGAGAGA others(12): Show GAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0061 a0001c0001t0014g0061	1	268	0.0037	19	c.300 others(38): Show c.300+75028_300+75029insAGAGAGAGAGAGAGAGAGA	CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	1/20			chr16	TogoVar
CMIP_chr16_81439808_81716762	81520569	G G	GGGAGAGA others(12): Show GGGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	268	0.0037	19	c.300 others(38): Show c.300+75029_300+75030insGAGAGAGAGAGAGAGAGAG	CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
CMIP_chr16_81439808_81716762	81598968	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02056.hp2 HG00597.hp1 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0018 a0001c0001t0011 a0001c0001t0018	a0001c0001t0011g0115 a0001c0001t0018g0017 a0001c0001t0011g0115 a0001c0001t0018g0017	2	268	0.0075	19	c.301 others(36): Show c.301-8595_301-8577dupAAAAAAAAAAAAAAAAAAA	CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
CMIP_chr16_81439808_81716762	81669509	A A	ACACCTCC others(12): Show ACACCTCCACACCCACCTCT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02486.hp1 NA18906.hp1 HG02257.hp1 HG02486.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0046 a0001c0001t0004 a0001c0001t0005 a0001c0001t0046	a0001c0001t0004g0160 a0001c0001t0005g0169 a0001c0001t0046g0180 a0001c0001t0004g0160 a0001c0001t0005g0169 a0001c0001t0046g0180	3	268	0.0112	19	c.826 others(34): Show c.826-629_826-611dupCTCCACACCCACCTCTCAC	CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	7/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
CMKLR2_chr2_206170316_206218371	206170516	A A	AAGACATA others(12): Show AAGACATACCTGAGACTGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0248 a0002c0003t0003g0248	1	322	0.0031	19	c.56 others(30): Show c.5663_*5664insCCCAGTCTCAGGTATGTCT	CMKLR2	ENSG00000183671.13	transcript	ENST00000621141.5	protein_coding		4799		chr2	TogoVar
CMKLR2_chr2_206170316_206218371	206172742	A A	AGGGAGAG others(12): Show AGGGAGAGGGAGAGGGAGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	322	0.0031	19	c.34 others(30): Show c.3437_*3438insGTCTCCCTCTCCCTCTCCC	CMKLR2	ENSG00000183671.13	transcript	ENST00000621141.5	protein_coding		2573		chr2	TogoVar
CMKLR2_chr2_206170316_206218371	206172948	A A	AGGGAGAG others(12): Show AGGGAGAGGGAGAGGGAGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	322	0.0031	19	c.32 others(30): Show c.3231_*3232insGTCTCCCTCTCCCTCTCCC	CMKLR2	ENSG00000183671.13	transcript	ENST00000621141.5	protein_coding		2367		chr2	TogoVar
CMKLR2_chr2_206170316_206218371	206173128	G G	GGGAGAGG others(12): Show GGGAGAGGGGGAGAGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0040 a0002c0002t0001g0040	1	322	0.0031	19	c.30 others(30): Show c.3051_*3052insTCCCCCTCTCCCCCTCTCC	CMKLR2	ENSG00000183671.13	transcript	ENST00000621141.5	protein_coding		2187		chr2	TogoVar
CMKLR2_chr2_206170316_206218371	206207728	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0136 a0002c0002t0001g0136	1	322	0.0031	19	c.-29 others(36): Show c.-29+5560_-29+5578dupAAAAAAAAAAAAAAAAAAA	CMKLR2	ENSG00000183671.13	transcript	ENST00000621141.5	protein_coding	1/1			chr2	TogoVar
CMSS1_chr3_99812862_100186732	99957693	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG04199.hp1 HG03942.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0068 a0001c0001t0004g0022 a0001c0001t0002g0068 a0001c0001t0004g0022	2	232	0.0086	19	c.64+ others(38): Show c.64+139660_64+139678dupTTTTTTTTTTTTTTTTTTT	CMSS1	ENSG00000184220.12	transcript	ENST00000421999.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMSS1_chr3_99812862_100186732	100031964	T T	TTATGTAT others(12): Show TTATGTATCATGAATGTATG	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA19066.hp2 NA18959.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0085 a0001c0001t0004g0019 a0001c0001t0002g0085 a0001c0001t0004g0019	2	232	0.0086	19	c.65- others(38): Show c.65-115002_65-115001insCATGAATGTATGTATGTAT	CMSS1	ENSG00000184220.12	transcript	ENST00000421999.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMTM2_chr16_66574463_66593275	66589828	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18986.hp2 NA19070.hp2 NA19085.hp1 NA18986.hp2 NA19070.hp2 NA19085.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0003	3	410	0.0073	19	c.17 others(30): Show c.1709_*1710insAAAAAAAAAAAAAAAAAAA	CMTM2	ENSG00000140932.10	transcript	ENST00000268595.3	protein_coding		1554		chr16	TogoVar

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