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.

⚠️ 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
CLIP1_chr12_122266469_122427669	122397553	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02895.hp2 HG02897.hp1 HG02818.hp1 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0009 a0001c0001t0005 a0001c0001t0009	a0001c0001t0005g0037 a0001c0001t0009g0035 a0001c0001t0009g0036 a0001c0001t0005g0037 a0001c0001t0009g0035 a0001c0001t0009g0036	3	234	0.0128	-14	c.-10 others(35): Show c.-106-17009_-106-16996delTTTTTTTTTTTTTT	CLIP1	ENSG00000130779.22	transcript	ENST00000620786.5	protein_coding	1/25			chr12	TogoVar
CLIP1_chr12_122266469_122427669	122403494	GTTTTGTT others(7): Show GTTTTGTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0005 a0002c0007t0005	a0002c0007t0005g0153 a0002c0007t0005g0153	1	234	0.0043	-14	c.-10 others(35): Show c.-107+19013_-107+19026delAAAAAAAAACAAAA	CLIP1	ENSG00000130779.22	transcript	ENST00000620786.5	protein_coding	1/25			chr12	TogoVar
CLIP2_chr7_74284407_74410935	74310036	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02723.hp2 HG03195.hp1 HG02630.hp1 HG02723.hp2 HG03195.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0002 a0001c0001t0001 a0002c0003t0002	a0001c0001t0001g0178 a0001c0001t0001g0180 a0002c0003t0002g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 a0002c0003t0002g0177	3	278	0.0108	-14	c.-67 others(31): Show c.-67-7415_-67-7402delAAAAAAAAAAAAAA	CLIP2	ENSG00000106665.16	transcript	ENST00000223398.11	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
CLIP2_chr7_74284407_74410935	74349470	GTATATAT others(7): Show GTATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00609.hp2 NA18940.hp1 NA18950.hp1 others(4): Show HG00609.hp2 NA18940.hp1 NA18950.hp1 NA18984.hp1 NA19012.hp1 NA19064.hp1 NA19068.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0002c0003t0002 a0002c0003t0004	a0001c0001t0001g0078 a0001c0001t0001g0114 a0001c0001t0002g0022 others(4): Show a0001c0001t0001g0078 a0001c0001t0001g0114 a0001c0001t0002g0022 a0001c0002t0002g0119 a0002c0003t0002g0110 a0002c0003t0004g0054 a0002c0003t0004g0074	7	278	0.0252	-14	c.679 others(31): Show c.679-4382_679-4369delATATATATATATAT	CLIP2	ENSG00000106665.16	transcript	ENST00000223398.11	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
CLIP2_chr7_74284407_74410935	74364993	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01258.hp1 HG01433.hp1 others(7): Show HG01106.hp1 HG01258.hp1 HG01433.hp1 HG01952.hp2 HG01981.hp1 HG02074.hp1 HG02148.hp2 HG03654.hp1 NA18906.hp1 NA19002.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0006 a0001c0001 a0001c0002 a0002c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0017 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0017 a0001c0002t0002 a0002c0006t0002	a0001c0001t0001g0113 a0001c0001t0001g0138 a0001c0001t0001g0155 others(7): Show a0001c0001t0001g0113 a0001c0001t0001g0138 a0001c0001t0001g0155 a0001c0001t0001g0195 a0001c0001t0001g0220 a0001c0001t0001g0274 a0001c0001t0002g0262 a0001c0001t0017g0260 a0001c0002t0002g0241 a0002c0006t0002g0215	10	278	0.0360	-14	c.138 others(31): Show c.1380+723_1380+736delTGTGTGTGTGTGTG	CLIP2	ENSG00000106665.16	transcript	ENST00000223398.11	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
CLIP4_chr2_29110415_29188808	29168512	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02922.hp2 HG03209.hp1 HG01891.hp2 HG02922.hp2 HG03209.hp1	a0001 a0001	a0001c0010 a0001c0018 a0001c0010 a0001c0018	a0001c0010t0004 a0001c0018t0004 a0001c0010t0004 a0001c0018t0004	a0001c0010t0004g0256 a0001c0010t0004g0257 a0001c0018t0004g0078 a0001c0010t0004g0256 a0001c0010t0004g0257 a0001c0018t0004g0078	3	292	0.0103	-14	c.172 others(32): Show c.1723+988_1723+1001delTTTTTTTTTTTTTT	CLIP4	ENSG00000115295.21	transcript	ENST00000320081.10	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
CLIP4_chr2_29110415_29188808	29169329	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00738.hp2 HG01123.hp2 others(17): Show HG00280.hp1 HG00738.hp2 HG01123.hp2 HG01515.hp2 HG01891.hp2 HG02040.hp2 HG02735.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG03041.hp1 HG03209.hp1 HG03239.hp2 HG03490.hp1 HG03492.hp2 HG03834.hp1 HG04184.hp2 NA18991.hp2 NA19011.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0010 a0001c0018	a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 a0001c0003t0001 a0001c0010t0004 a0001c0018t0004	a0001c0001t0001g0173 a0001c0001t0001g0227 a0001c0001t0001g0228 others(16): Show a0001c0001t0001g0173 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0002t0001g0001 a0001c0002t0001g0024 a0001c0002t0001g0028 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0048 a0001c0002t0001g0277 a0001c0002t0003g0009 a0001c0002t0003g0121 a0001c0003t0001g0147 a0001c0003t0001g0219 a0001c0010t0004g0256 a0001c0010t0004g0257 a0001c0018t0004g0078	20	292	0.0685	-14	c.172 others(33): Show c.1723+1823_1723+1836delGTGTGTGTGTGTGT	CLIP4	ENSG00000115295.21	transcript	ENST00000320081.10	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
CLK1_chr2_200848009_200869658	200852396	CTCCTGGC others(7): Show CTCCTGGCCTCAAAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 NA18972.hp2 HG00423.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0001 a0001c0001t0001g0010	2	418	0.0048	-14	c.89 others(23): Show c.896_*909delATTTGAGGCCAGGA	CLK1	ENSG00000013441.17	transcript	ENST00000321356.9	protein_coding		612		chr2	TogoVar
CLK1_chr2_200848009_200869658	200865496	GCTGCCCT others(7): Show GCTGCCCTGCAGGAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	418	0.0024	-14	c.-94 others(23): Show c.-947_-934delATCCTGCAGGGCAG	CLK1	ENSG00000013441.17	transcript	ENST00000321356.9	protein_coding		839		chr2	TogoVar
CLK2_chr1_155257868_155278504	155258318	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 NA20752.hp1 HG01167.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0037 a0001c0001t0001g0002 a0001c0001t0001g0037	2	331	0.0060	-14	c.48 others(25): Show c.4886_*4899delAAAAAAAAAAAAAA	CLK2	ENSG00000176444.19	transcript	ENST00000368361.9	protein_coding		4549		chr1	TogoVar
CLMN_chr14_95176940_95324908	95198038	CTTTCTTT others(7): Show CTTTCTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02717.hp2 HG03098.hp1 others(4): Show HG01109.hp1 HG02717.hp2 HG03098.hp1 HG03130.hp2 HG03540.hp2 NA19030.hp2 NA20129.hp1	a0003 a0003	a0003c0007 a0003c0009 a0003c0007 a0003c0009	a0003c0007t0008 a0003c0007t0020 a0003c0007t0043 others(2): Show a0003c0007t0008 a0003c0007t0020 a0003c0007t0043 a0003c0009t0008 a0003c0009t0021	a0003c0007t0008g0049 a0003c0007t0020g0002 a0003c0007t0043g0048 others(3): Show a0003c0007t0008g0049 a0003c0007t0020g0002 a0003c0007t0043g0048 a0003c0009t0008g0272 a0003c0009t0021g0174 a0003c0009t0021g0271	7	276	0.0254	-14	c.251 others(33): Show c.2512-1358_2512-1345delAAAAAAAAAAGAAA	CLMN	ENSG00000165959.12	transcript	ENST00000298912.9	protein_coding	9/12			chr14	TogoVar
CLMN_chr14_95176940_95324908	95215811	CTCTCTGT others(7): Show CTCTCTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01934.hp2 HG01975.hp2 others(4): Show HG01928.hp2 HG01934.hp2 HG01975.hp2 NA18957.hp1 NA18971.hp2 NA18975.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0004 a0001c0002t0004 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0004 a0001c0003t0002 a0001c0003t0023	a0001c0001t0001g0210 a0001c0001t0004g0214 a0001c0001t0004g0228 others(4): Show a0001c0001t0001g0210 a0001c0001t0004g0214 a0001c0001t0004g0228 a0001c0001t0004g0230 a0001c0002t0004g0027 a0001c0003t0002g0203 a0001c0003t0023g0213	7	276	0.0254	-14	c.325 others(27): Show c.325-92_325-79delCACACACACAGAGA	CLMN	ENSG00000165959.12	transcript	ENST00000298912.9	protein_coding	4/12			chr14	TogoVar
CLMN_chr14_95176940_95324908	95215813	CTCTGTGT others(7): Show CTCTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01257.hp2 HG01261.hp2 others(24): Show HG00738.hp1 HG01257.hp2 HG01261.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01993.hp2 HG02055.hp1 HG02145.hp1 HG02622.hp1 HG02683.hp2 HG02698.hp1 HG03017.hp1 HG03195.hp2 HG03225.hp1 HG03471.hp2 HG03579.hp2 HG03654.hp2 HG03831.hp1 HG03834.hp2 NA18747.hp1 NA18945.hp1 NA18971.hp1 NA18977.hp1 NA18977.hp2 NA18994.hp2 NA19085.hp2	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0013 a0002c0004 a0008c0017	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(17): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0011 a0001c0001t0015 a0001c0001t0033 a0001c0001t0062 a0001c0001t0069 a0001c0002t0001 a0001c0002t0009 a0001c0002t0011 a0001c0002t0034 a0001c0002t0060 a0001c0003t0002 a0001c0003t0013 a0001c0003t0066 a0001c0013t0017 a0002c0004t0025 a0008c0017t0001	a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0142 others(24): Show a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0142 a0001c0001t0003g0240 a0001c0001t0004g0199 a0001c0001t0007g0097 a0001c0001t0011g0114 a0001c0001t0011g0236 a0001c0001t0015g0100 a0001c0001t0033g0207 a0001c0001t0062g0072 a0001c0001t0069g0132 a0001c0002t0001g0015 a0001c0002t0001g0036 a0001c0002t0009g0045 a0001c0002t0009g0047 a0001c0002t0011g0024 a0001c0002t0034g0026 a0001c0002t0060g0044 a0001c0003t0002g0093 a0001c0003t0002g0223 a0001c0003t0013g0081 a0001c0003t0066g0192 a0001c0013t0017g0025 a0002c0004t0025g0109 a0002c0004t0025g0110 a0008c0017t0001g0139	27	276	0.0978	-14	c.325 others(27): Show c.325-94_325-81delCACACACACACAGA	CLMN	ENSG00000165959.12	transcript	ENST00000298912.9	protein_coding	4/12			chr14	TogoVar
CLMN_chr14_95176940_95324908	95215815	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00642.hp2 others(32): Show HG00099.hp2 HG00140.hp2 HG00642.hp2 HG00735.hp1 HG00741.hp2 HG01074.hp2 HG01243.hp2 HG01255.hp1 HG01261.hp1 HG01884.hp1 HG01891.hp2 HG02055.hp2 HG02165.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02683.hp1 HG02717.hp2 HG02735.hp1 HG02738.hp1 HG02886.hp2 HG02922.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03486.hp2 HG03688.hp1 HG03710.hp2 HG03831.hp2 HG04199.hp1 NA19030.hp2 NA19043.hp2 NA19056.hp2 NA19240.hp2 NA20129.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0003c0007 a0003c0009 a0004c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(15): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0030 a0001c0001t0035 a0001c0001t0052 a0001c0001t0068 a0001c0002t0022 a0001c0003t0002 a0001c0003t0013 a0003c0007t0008 a0003c0007t0020 a0003c0007t0043 a0003c0009t0008 a0004c0006t0010 a0004c0006t0036	a0001c0001t0001g0076 a0001c0001t0001g0136 a0001c0001t0001g0137 others(31): Show a0001c0001t0001g0076 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0171 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0195 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0259 a0001c0001t0003g0077 a0001c0001t0003g0111 a0001c0001t0003g0241 a0001c0001t0005g0270 a0001c0001t0006g0090 a0001c0001t0009g0059 a0001c0001t0030g0145 a0001c0001t0035g0140 a0001c0001t0052g0141 a0001c0001t0068g0113 a0001c0002t0022g0050 a0001c0003t0002g0069 a0001c0003t0002g0217 a0001c0003t0013g0082 a0003c0007t0008g0049 a0003c0007t0020g0002 a0003c0007t0043g0048 a0003c0009t0008g0272 a0004c0006t0010g0060 a0004c0006t0010g0061 a0004c0006t0010g0062 a0004c0006t0010g0064 a0004c0006t0010g0117 a0004c0006t0036g0058	35	276	0.1268	-14	c.325 others(27): Show c.325-96_325-83delCACACACACACACA	CLMN	ENSG00000165959.12	transcript	ENST00000298912.9	protein_coding	4/12			chr14	TogoVar
CLMN_chr14_95176940_95324908	95245191	TATAATAT others(7): Show TATAATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0115 a0001c0003t0002g0115	1	276	0.0036	-14	c.83- others(31): Show c.83-15072_83-15059delTATATATATATTAT	CLMN	ENSG00000165959.12	transcript	ENST00000298912.9	protein_coding	1/12			chr14	TogoVar
CLMP_chr11_123064872_123200248	123106382	GGTGTGTG others(7): Show GGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	254	0.0039	-14	c.29- others(29): Show c.29-8444_29-8431delACACACACACACAC	CLMP	ENSG00000166250.12	transcript	ENST00000448775.4	protein_coding	1/6			chr11	TogoVar
CLMP_chr11_123064872_123200248	123106422	TGTGCGCG others(7): Show TGTGCGCGCGCGCGC	T T	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03453.hp1 HG04204.hp1 HG03225.hp2 HG03453.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0235 a0001c0001t0002g0239 a0001c0001t0003g0135 a0001c0001t0002g0235 a0001c0001t0002g0239 a0001c0001t0003g0135	3	254	0.0118	-14	c.29- others(29): Show c.29-8484_29-8471delGCGCGCGCGCGCAC	CLMP	ENSG00000166250.12	transcript	ENST00000448775.4	protein_coding	1/6			chr11	TogoVar
CLMP_chr11_123064872_123200248	123106424	TGCGCGCG others(7): Show TGCGCGCGCGCGCGC	T T	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0018 a0002c0002t0018	a0002c0002t0018g0144 a0002c0002t0018g0144	1	254	0.0039	-14	c.29- others(29): Show c.29-8486_29-8473delGCGCGCGCGCGCGC	CLMP	ENSG00000166250.12	transcript	ENST00000448775.4	protein_coding	1/6			chr11	TogoVar
CLMP_chr11_123064872_123200248	123118973	CTTTCTTT others(7): Show CTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0162 a0001c0001t0042g0162	1	254	0.0039	-14	c.29- others(31): Show c.29-21035_29-21022delAAGAAAGAAAGAAA	CLMP	ENSG00000166250.12	transcript	ENST00000448775.4	protein_coding	1/6			chr11	TogoVar
CLMP_chr11_123064872_123200248	123118981	CTTTCTTT others(7): Show CTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0027 a0001c0003t0027	a0001c0003t0027g0111 a0001c0003t0027g0111	1	254	0.0039	-14	c.29- others(31): Show c.29-21043_29-21030delAAGAAAGAAAGAAA	CLMP	ENSG00000166250.12	transcript	ENST00000448775.4	protein_coding	1/6			chr11	TogoVar
CLMP_chr11_123064872_123200248	123118985	CTTTCTTT others(7): Show CTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00738.hp2 HG00438.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0055 a0001c0001t0003g0163 a0001c0001t0001g0055 a0001c0001t0003g0163	2	254	0.0079	-14	c.29- others(31): Show c.29-21047_29-21034delAAGAAAGAAAGAAA	CLMP	ENSG00000166250.12	transcript	ENST00000448775.4	protein_coding	1/6			chr11	TogoVar
CLMP_chr11_123064872_123200248	123118987	TTCTTTCT others(7): Show TTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG03710.hp2 NA19005.hp1 others(2): Show HG00735.hp1 HG03710.hp2 NA19005.hp1 NA19005.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0021 a0001c0001t0024 a0001c0001t0003 a0001c0001t0021 a0001c0001t0024	a0001c0001t0003g0133 a0001c0001t0003g0158 a0001c0001t0003g0172 others(2): Show a0001c0001t0003g0133 a0001c0001t0003g0158 a0001c0001t0003g0172 a0001c0001t0021g0222 a0001c0001t0024g0008	5	254	0.0197	-14	c.29- others(31): Show c.29-21049_29-21036delGAAAGAAAGAAAGA	CLMP	ENSG00000166250.12	transcript	ENST00000448775.4	protein_coding	1/6			chr11	TogoVar
CLMP_chr11_123064872_123200248	123150201	AACACACA others(7): Show AACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0180 a0001c0001t0014g0180	1	254	0.0039	-14	c.28+ others(31): Show c.28+44698_28+44711delGTGTGTGTGTGTGT	CLMP	ENSG00000166250.12	transcript	ENST00000448775.4	protein_coding	1/6			chr11	TogoVar
CLN5_chr13_76987081_77010117	76991751	TGGGATGG others(7): Show TGGGATGGGGTAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	430	0.0023	-14	c.-34 others(23): Show c.-347_-334delGGGATGGGGTAAAA	CLN5	ENSG00000102805.16	transcript	ENST00000377453.9	protein_coding		329		chr13	TogoVar
CLNK_chr4_10481395_10689768	10585361	ATGGTAGC others(7): Show ATGGTAGCCTATAGT	A A	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0153 a0001c0001t0023g0153	1	320	0.0031	-14	c.84- others(27): Show c.84-420_84-407delACTATAGGCTACCA	CLNK	ENSG00000109684.16	transcript	ENST00000226951.11	protein_coding	3/18			chr4	TogoVar
CLNK_chr4_10481395_10689768	10610030	CTCGTTTT others(7): Show CTCGTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02970.hp1 HG03209.hp1 others(2): Show HG02622.hp2 HG02970.hp1 HG03209.hp1 HG03453.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0062 a0001c0001t0002 a0001c0001t0062	a0001c0001t0002g0015 a0001c0001t0002g0017 a0001c0001t0002g0018 others(2): Show a0001c0001t0002g0015 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0088 a0001c0001t0062g0266	5	320	0.0156	-14	c.12- others(31): Show c.12-11995_12-11982delAAAAAAAAAAACGA	CLNK	ENSG00000109684.16	transcript	ENST00000226951.11	protein_coding	2/18			chr4	TogoVar
CLNK_chr4_10481395_10689768	10610033	GTTTTTTT others(7): Show GTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp2 others(141): Show HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01099.hp2 HG01109.hp1 HG01169.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01358.hp1 HG01358.hp2 HG01515.hp2 HG01517.hp2 HG01891.hp1 HG01928.hp1 HG01981.hp1 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02056.hp1 HG02074.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02523.hp1 HG02559.hp2 HG02572.hp2 HG02622.hp1 HG02630.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02896.hp1 HG02896.hp2 HG02970.hp2 HG02976.hp2 HG03098.hp1 HG03195.hp2 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18943.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp2 NA18951.hp1 NA18959.hp2 NA18962.hp2 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18978.hp2 NA18982.hp2 NA18983.hp1 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18991.hp2 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19007.hp1 NA19007.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19057.hp1 NA19060.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19240.hp1 NA20752.hp1 NA21309.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0008 a0009	a0001c0001 a0001c0004 a0001c0005 others(5): Show a0001c0001 a0001c0004 a0001c0005 a0001c0008 a0002c0002 a0004c0006 a0008c0013 a0009c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(46): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0024 a0001c0001t0025 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0036 a0001c0001t0038 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0047 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0055 a0001c0001t0057 a0001c0001t0063 a0001c0001t0067 a0001c0001t0072 a0001c0001t0074 a0001c0001t0077 a0001c0001t0078 a0001c0004t0021 a0001c0005t0008 a0001c0005t0027 a0001c0008t0056 a0002c0002t0031 a0004c0006t0004 a0004c0006t0018 a0008c0013t0001 a0009c0009t0026	a0001c0001t0001g0016 a0001c0001t0001g0024 a0001c0001t0001g0052 others(141): Show a0001c0001t0001g0016 a0001c0001t0001g0024 a0001c0001t0001g0052 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0134 a0001c0001t0001g0154 a0001c0001t0001g0173 a0001c0001t0001g0276 a0001c0001t0001g0284 a0001c0001t0001g0293 a0001c0001t0002g0030 a0001c0001t0002g0037 a0001c0001t0002g0046 a0001c0001t0002g0147 a0001c0001t0002g0165 a0001c0001t0002g0286 a0001c0001t0002g0288 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0003g0090 a0001c0001t0003g0200 a0001c0001t0003g0206 a0001c0001t0003g0208 a0001c0001t0003g0212 a0001c0001t0003g0221 a0001c0001t0003g0225 a0001c0001t0003g0228 a0001c0001t0003g0232 a0001c0001t0003g0236 a0001c0001t0003g0237 a0001c0001t0003g0240 a0001c0001t0003g0247 a0001c0001t0003g0250 a0001c0001t0003g0303 a0001c0001t0003g0304 a0001c0001t0004g0140 a0001c0001t0004g0143 a0001c0001t0004g0161 a0001c0001t0004g0289 a0001c0001t0004g0290 a0001c0001t0005g0004 a0001c0001t0005g0108 a0001c0001t0005g0241 a0001c0001t0005g0242 a0001c0001t0005g0245 a0001c0001t0005g0246 a0001c0001t0005g0249 a0001c0001t0005g0260 a0001c0001t0005g0270 a0001c0001t0005g0296 a0001c0001t0005g0306 a0001c0001t0005g0309 a0001c0001t0006g0010 a0001c0001t0006g0032 a0001c0001t0006g0148 a0001c0001t0006g0149 a0001c0001t0006g0156 a0001c0001t0006g0176 a0001c0001t0006g0178 a0001c0001t0007g0093 a0001c0001t0007g0094 a0001c0001t0007g0096 a0001c0001t0007g0097 a0001c0001t0007g0098 a0001c0001t0007g0229 a0001c0001t0007g0230 a0001c0001t0007g0243 a0001c0001t0007g0301 a0001c0001t0008g0213 a0001c0001t0008g0223 a0001c0001t0008g0253 a0001c0001t0008g0254 a0001c0001t0008g0271 a0001c0001t0008g0299 a0001c0001t0009g0123 a0001c0001t0009g0150 a0001c0001t0009g0163 a0001c0001t0009g0167 a0001c0001t0009g0168 a0001c0001t0009g0175 a0001c0001t0009g0300 a0001c0001t0010g0248 a0001c0001t0010g0302 a0001c0001t0010g0313 a0001c0001t0010g0314 a0001c0001t0011g0020 a0001c0001t0011g0033 a0001c0001t0011g0035 a0001c0001t0011g0285 a0001c0001t0012g0025 a0001c0001t0012g0034 a0001c0001t0013g0218 a0001c0001t0013g0238 a0001c0001t0013g0256 a0001c0001t0013g0261 a0001c0001t0014g0287 a0001c0001t0015g0142 a0001c0001t0015g0144 a0001c0001t0015g0160 a0001c0001t0015g0179 a0001c0001t0024g0227 a0001c0001t0024g0272 a0001c0001t0025g0235 a0001c0001t0028g0219 a0001c0001t0028g0265 a0001c0001t0029g0257 a0001c0001t0029g0259 a0001c0001t0030g0310 a0001c0001t0030g0316 a0001c0001t0036g0193 a0001c0001t0038g0214 a0001c0001t0040g0234 a0001c0001t0041g0222 a0001c0001t0042g0305 a0001c0001t0043g0231 a0001c0001t0047g0226 a0001c0001t0049g0119 a0001c0001t0050g0209 a0001c0001t0051g0092 a0001c0001t0052g0244 a0001c0001t0053g0273 a0001c0001t0055g0239 a0001c0001t0057g0021 a0001c0001t0063g0141 a0001c0001t0067g0118 a0001c0001t0072g0177 a0001c0001t0074g0169 a0001c0001t0077g0133 a0001c0001t0078g0074 a0001c0004t0021g0102 a0001c0004t0021g0186 a0001c0005t0008g0224 a0001c0005t0027g0258 a0001c0005t0027g0275 a0001c0008t0056g0317 a0002c0002t0031g0318 a0004c0006t0004g0082 a0004c0006t0018g0080 a0004c0006t0018g0081 a0004c0006t0018g0083 a0008c0013t0001g0280 a0009c0009t0026g0274	144	320	0.4500	-14	c.12- others(31): Show c.12-11998_12-11985delAAAAAAAAAAAAAA	CLNK	ENSG00000109684.16	transcript	ENST00000226951.11	protein_coding	2/18			chr4	TogoVar
CLNK_chr4_10481395_10689768	10610771	AACACACA others(7): Show AACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01192.hp1 HG02647.hp2 others(4): Show HG00639.hp2 HG01192.hp1 HG02647.hp2 HG02818.hp1 HG03942.hp1 NA18943.hp1 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0009 others(4): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0009 a0001c0001t0013 a0001c0001t0019 a0001c0001t0032 a0001c0001t0053	a0001c0001t0002g0288 a0001c0001t0006g0178 a0001c0001t0009g0136 others(4): Show a0001c0001t0002g0288 a0001c0001t0006g0178 a0001c0001t0009g0136 a0001c0001t0013g0238 a0001c0001t0019g0014 a0001c0001t0032g0100 a0001c0001t0053g0273	7	320	0.0219	-14	c.12- others(31): Show c.12-12736_12-12723delGTGTGTGTGTGTGT	CLNK	ENSG00000109684.16	transcript	ENST00000226951.11	protein_coding	2/18			chr4	TogoVar
CLNK_chr4_10481395_10689768	10616784	GTGTGTGT others(7): Show GTGTGTGTATATATA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00558.hp1 HG00639.hp1 others(47): Show HG00323.hp1 HG00558.hp1 HG00639.hp1 HG00642.hp2 HG00733.hp2 HG00735.hp2 HG01071.hp2 HG01099.hp2 HG01358.hp2 HG01517.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02155.hp2 HG02258.hp1 HG02523.hp1 HG02809.hp2 HG02965.hp1 HG03239.hp1 HG03471.hp1 HG03486.hp2 HG03490.hp1 HG03704.hp1 HG03710.hp1 HG03942.hp1 NA18612.hp2 NA18747.hp2 NA18945.hp1 NA18952.hp1 NA18962.hp2 NA18964.hp1 NA18969.hp1 NA18970.hp2 NA18985.hp1 NA18989.hp1 NA18991.hp2 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19005.hp2 NA19007.hp2 NA19060.hp1 NA19065.hp1 NA19074.hp2 NA19079.hp2 NA19084.hp1 NA19084.hp2 NA19090.hp1 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0005 a0001c0001 a0001c0004 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0026 a0001c0001t0028 a0001c0001t0029 a0001c0001t0037 a0001c0001t0041 a0001c0001t0043 a0001c0001t0045 a0001c0001t0047 a0001c0001t0049 a0001c0001t0052 a0001c0001t0053 a0001c0001t0055 a0001c0004t0076 a0001c0005t0008 a0001c0005t0027	a0001c0001t0001g0089 a0001c0001t0002g0046 a0001c0001t0003g0212 others(47): Show a0001c0001t0001g0089 a0001c0001t0002g0046 a0001c0001t0003g0212 a0001c0001t0003g0221 a0001c0001t0003g0225 a0001c0001t0003g0228 a0001c0001t0003g0232 a0001c0001t0003g0236 a0001c0001t0003g0237 a0001c0001t0003g0240 a0001c0001t0003g0247 a0001c0001t0003g0250 a0001c0001t0005g0004 a0001c0001t0005g0246 a0001c0001t0005g0260 a0001c0001t0005g0270 a0001c0001t0005g0296 a0001c0001t0007g0229 a0001c0001t0007g0230 a0001c0001t0008g0213 a0001c0001t0008g0223 a0001c0001t0008g0254 a0001c0001t0008g0271 a0001c0001t0008g0319 a0001c0001t0010g0248 a0001c0001t0011g0033 a0001c0001t0011g0035 a0001c0001t0012g0025 a0001c0001t0012g0031 a0001c0001t0012g0034 a0001c0001t0013g0256 a0001c0001t0013g0261 a0001c0001t0015g0181 a0001c0001t0026g0201 a0001c0001t0028g0265 a0001c0001t0029g0257 a0001c0001t0037g0215 a0001c0001t0041g0222 a0001c0001t0043g0231 a0001c0001t0045g0197 a0001c0001t0047g0226 a0001c0001t0049g0119 a0001c0001t0052g0244 a0001c0001t0053g0273 a0001c0001t0055g0239 a0001c0004t0076g0174 a0001c0005t0008g0220 a0001c0005t0008g0224 a0001c0005t0027g0258 a0001c0005t0027g0275	50	320	0.1563	-14	c.12- others(31): Show c.12-18749_12-18736delTATATATACACACA	CLNK	ENSG00000109684.16	transcript	ENST00000226951.11	protein_coding	2/18			chr4	TogoVar
CLOCK_chr4_55422903_55551909	55448597	CGCGCGTG others(7): Show CGCGCGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG01070.hp1 others(5): Show HG00099.hp2 HG00280.hp1 HG01070.hp1 HG01071.hp2 HG01257.hp1 HG02615.hp1 NA18998.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0010 others(1): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0010 a0001c0001t0014	a0001c0001t0001g0099 a0001c0001t0001g0138 a0001c0001t0001g0156 others(5): Show a0001c0001t0001g0099 a0001c0001t0001g0138 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0008g0075 a0001c0001t0010g0114 a0001c0001t0014g0155 a0001c0001t0014g0176	8	338	0.0237	-14	c.153 others(31): Show c.1539+168_1539+181delACACACACACGCGC	CLOCK	ENSG00000134852.15	transcript	ENST00000513440.6	protein_coding	18/22			chr4	TogoVar
CLOCK_chr4_55422903_55551909	55448601	CGTGTGTG others(7): Show CGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02258.hp2 HG02280.hp1 others(4): Show HG02109.hp2 HG02258.hp2 HG02280.hp1 HG02717.hp2 HG02723.hp1 HG03516.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0042 a0001c0001t0049 others(3): Show a0001c0001t0001 a0001c0001t0042 a0001c0001t0049 a0002c0003t0024 a0002c0003t0063 a0002c0003t0074	a0001c0001t0001g0158 a0001c0001t0042g0071 a0001c0001t0049g0072 others(4): Show a0001c0001t0001g0158 a0001c0001t0042g0071 a0001c0001t0049g0072 a0002c0003t0024g0288 a0002c0003t0024g0289 a0002c0003t0063g0290 a0002c0003t0074g0291	7	338	0.0207	-14	c.153 others(31): Show c.1539+164_1539+177delACACACACACACAC	CLOCK	ENSG00000134852.15	transcript	ENST00000513440.6	protein_coding	18/22			chr4	TogoVar
CLPB_chr11_72280495_72439531	72297636	GGTGTGTG others(7): Show GGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02922.hp2 HG03453.hp1 others(6): Show HG01243.hp1 HG02922.hp2 HG03453.hp1 HG03579.hp1 HG03831.hp1 NA18952.hp1 NA18970.hp2 NA19005.hp1 NA19074.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0003 a0001c0001 a0001c0004 a0002c0003	a0001c0001t0002 a0001c0001t0012 a0001c0001t0055 others(5): Show a0001c0001t0002 a0001c0001t0012 a0001c0001t0055 a0001c0001t0113 a0001c0001t0120 a0001c0001t0122 a0001c0004t0012 a0002c0003t0030	a0001c0001t0002g0203 a0001c0001t0012g0190 a0001c0001t0055g0010 others(5): Show a0001c0001t0002g0203 a0001c0001t0012g0190 a0001c0001t0055g0010 a0001c0001t0113g0146 a0001c0001t0120g0147 a0001c0001t0122g0187 a0001c0004t0012g0001 a0002c0003t0030g0140	9	206	0.0437	-14	c.142 others(33): Show c.1420-2002_1420-1989delACACACACACACAC	CLPB	ENSG00000162129.15	transcript	ENST00000294053.9	protein_coding	12/16			chr11	TogoVar
CLPSL2_chr6_35771598_35784552	35775015	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	460	0.0022	-14	c.-16 others(25): Show c.-1603_-1590delAAAAAAAAAAAAAA	CLPSL2	ENSG00000196748.10	transcript	ENST00000403376.4	protein_coding		1582		chr6	TogoVar
CLPS_chr6_35789982_35802323	35794660	AGTGTGTG others(7): Show AGTGTGTGTGTGTGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02280.hp2 HG02615.hp2 others(5): Show HG02257.hp2 HG02280.hp2 HG02615.hp2 HG02818.hp1 HG02886.hp1 HG03041.hp1 HG03225.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	8	418	0.0191	-14	c.47 others(23): Show c.472_*485delACACACACACACAC	CLPS	ENSG00000137392.10	transcript	ENST00000259938.7	protein_coding		321		chr6	TogoVar
CLPS_chr6_35789982_35802323	35797482	CGTGTGTG others(7): Show CGTGTGTGTGTGTGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02630.hp1 HG02280.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	418	0.0048	-14	c.-20 others(23): Show c.-208_-195delACACACACACACAC	CLPS	ENSG00000137392.10	transcript	ENST00000259938.7	protein_coding		160		chr6	TogoVar
CLPTM1L_chr5_1312752_1350099	1332496	CCCAGGCA others(7): Show CCCAGGCACTCAGAA	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03209.hp1 HG02615.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0343 a0001c0001t0003g0344 a0001c0001t0003g0343 a0001c0001t0003g0344	2	370	0.0054	-14	c.892 others(29): Show c.892-627_892-614delTTCTGAGTGCCTGG	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	7/16			chr5	TogoVar
CLPTM1L_chr5_1312752_1350099	1347978	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(142): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00609.hp2 HG00621.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01175.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01978.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02109.hp1 HG02109.hp2 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03834.hp1 HG04115.hp2 HG04199.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18941.hp2 NA18948.hp2 NA18954.hp2 NA18955.hp1 NA18961.hp1 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18992.hp2 NA18993.hp2 NA18994.hp1 NA19000.hp2 NA19030.hp1 NA19030.hp2 NA19056.hp2 NA19066.hp2 NA19087.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0004t0001 a0001c0009t0002	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 others(126): Show a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0169 a0001c0001t0001g0184 a0001c0001t0001g0222 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0268 a0001c0001t0001g0278 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0011 a0001c0001t0002g0013 a0001c0001t0002g0015 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0269 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0003g0342 a0001c0001t0003g0343 a0001c0001t0003g0344 a0001c0001t0003g0345 a0001c0001t0003g0346 a0001c0002t0001g0018 a0001c0002t0001g0338 a0001c0002t0001g0339 a0001c0002t0001g0340 a0001c0002t0001g0341 a0001c0004t0001g0235 a0001c0004t0001g0236 a0001c0004t0001g0237 a0001c0009t0002g0270	145	370	0.3919	-14	c.-31 others(25): Show c.-3151_-3138delAAAAAAAAAAAAAA	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding		2880		chr5	TogoVar
CLPTM1_chr19_44950380_44998341	44963099	TCAGGAGG others(7): Show TCAGGAGGCTGAGGG	T T	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0127 a0001c0002t0001g0127	1	374	0.0027	-14	c.185 others(31): Show c.185+1031_185+1044delGCTGAGGGCAGGAG	CLPTM1	ENSG00000104853.16	transcript	ENST00000337392.10	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
CLPX_chr15_65143219_65190342	65146020	AATATATA others(7): Show AATATATATATAAAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0017 a0001c0001t0009g0017	1	190	0.0053	-14	c.47 others(25): Show c.4789_*4802delATTTATATATATAT	CLPX	ENSG00000166855.9	transcript	ENST00000300107.7	protein_coding		2198		chr15	TogoVar
CLPX_chr15_65143219_65190342	65151456	GAAAAAAA others(7): Show GAAAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp2 HG01515.hp1 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0158 a0001c0001t0001g0131 a0001c0001t0001g0158	2	190	0.0105	-14	c.181 others(31): Show c.1812-557_1812-544delTTTTTTTTTTTTTT	CLPX	ENSG00000166855.9	transcript	ENST00000300107.7	protein_coding	13/13			chr15	TogoVar
CLPX_chr15_65143219_65190342	65171087	CTGGGATT others(7): Show CTGGGATTACAGGCA	C C	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0050 a0001c0001t0003g0050	1	190	0.0053	-14	c.359 others(31): Show c.359-4316_359-4303delTGCCTGTAATCCCA	CLPX	ENSG00000166855.9	transcript	ENST00000300107.7	protein_coding	3/13			chr15	TogoVar
CLRN1_chr3_150921567_150977727	150965903	ATAAAACT others(7): Show ATAAAACTTCTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0335 a0001c0002t0003g0335	1	408	0.0025	-14	c.253 others(31): Show c.253+6539_253+6552delAAAAAGAAGTTTTA	CLRN1	ENSG00000163646.12	transcript	ENST00000327047.6	protein_coding	1/2			chr3	TogoVar
CLSPN_chr1_35727112_35774978	35728918	TCAAACAC others(7): Show TCAAACACACACACA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0167 a0002c0002t0002g0167	1	296	0.0034	-14	c.75 others(25): Show c.7564_*7577delTGTGTGTGTGTTTG	CLSPN	ENSG00000092853.14	transcript	ENST00000318121.8	protein_coding		3193		chr1	TogoVar
CLSPN_chr1_35727112_35774978	35728921	AACACACA others(7): Show AACACACACACACAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG02129.hp1 HG02145.hp1 others(7): Show HG00558.hp1 HG02129.hp1 HG02145.hp1 HG02155.hp1 HG02818.hp1 HG02886.hp1 HG03041.hp2 HG03225.hp1 HG06807.hp2 NA19009.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0016	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0016c0017	a0001c0001t0003 a0001c0001t0009 a0001c0001t0027 others(3): Show a0001c0001t0003 a0001c0001t0009 a0001c0001t0027 a0002c0002t0005 a0003c0003t0013 a0016c0017t0003	a0001c0001t0003g0012 a0001c0001t0003g0026 a0001c0001t0003g0216 others(7): Show a0001c0001t0003g0012 a0001c0001t0003g0026 a0001c0001t0003g0216 a0001c0001t0009g0214 a0001c0001t0027g0113 a0002c0002t0005g0146 a0002c0002t0005g0151 a0003c0003t0013g0189 a0003c0003t0013g0191 a0016c0017t0003g0043	10	296	0.0338	-14	c.75 others(25): Show c.7561_*7574delGTGTGTGTGTGTGT	CLSPN	ENSG00000092853.14	transcript	ENST00000318121.8	protein_coding		3190		chr1	TogoVar
CLSPN_chr1_35727112_35774978	35748820	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03579.hp2 HG02717.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0022 a0001c0001 a0001c0022	a0001c0001t0025 a0001c0022t0024 a0001c0001t0025 a0001c0022t0024	a0001c0001t0025g0114 a0001c0022t0024g0117 a0001c0001t0025g0114 a0001c0022t0024g0117	2	296	0.0068	-14	c.227 others(31): Show c.2273-230_2273-217delAAAAAAAAAAAAAA	CLSPN	ENSG00000092853.14	transcript	ENST00000318121.8	protein_coding	12/24			chr1	TogoVar
CLSPN_chr1_35727112_35774978	35770420	AATATATA others(7): Show AATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp1 HG03688.hp1 NA18970.hp2 others(1): Show HG01496.hp1 HG03688.hp1 NA18970.hp2 NA19086.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0018 a0002c0002t0034 a0002c0002t0002 a0002c0002t0018 a0002c0002t0034	a0002c0002t0002g0165 a0002c0002t0018g0148 a0002c0002t0018g0181 others(1): Show a0002c0002t0002g0165 a0002c0002t0018g0148 a0002c0002t0018g0181 a0002c0002t0034g0157	4	296	0.0135	-14	c.-56 others(23): Show c.-564_-551delATATATATATATAT	CLSPN	ENSG00000092853.14	transcript	ENST00000318121.8	protein_coding		443		chr1	TogoVar
CLSPN_chr1_35727112_35774978	35770484	CACACATA others(7): Show CACACATATATACAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0159 a0002c0002t0002g0159	1	296	0.0034	-14	c.-62 others(23): Show c.-628_-615delATGTATATATGTGT	CLSPN	ENSG00000092853.14	transcript	ENST00000318121.8	protein_coding		507		chr1	TogoVar
CLSTN2_chr3_139930185_140582397	139978648	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0011 a0002c0002t0011	a0002c0002t0011g0039 a0002c0002t0011g0039	1	110	0.0091	-14	c.109 others(33): Show c.109+43207_109+43220delGTGTGTGTGTGTGT	CLSTN2	ENSG00000158258.16	transcript	ENST00000458420.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
CLSTN2_chr3_139930185_140582397	140135105	CACACACA others(7): Show CACACACACACACAT	C C	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0044 a0001c0001t0036g0044	1	110	0.0091	-14	c.110 others(33): Show c.110-40844_110-40831delCACACACACACATA	CLSTN2	ENSG00000158258.16	transcript	ENST00000458420.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
CLSTN2_chr3_139930185_140582397	140135111	CACACACA others(7): Show CACACACATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0009 a0001c0008t0009	a0001c0008t0009g0100 a0001c0008t0009g0100	1	110	0.0091	-14	c.110 others(33): Show c.110-40838_110-40825delCACACATATATATA	CLSTN2	ENSG00000158258.16	transcript	ENST00000458420.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr3	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)