Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
COL4A2_chr13_110302284_110518209	110506145	T T	TTCTCAGG others(34): Show TTCTCAGGCTGCAGGTGCACTAGGCCGTCCACTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0005 a0005	a0005c0020 a0005c0020	a0005c0020t0002 a0005c0020t0002	a0005c0020t0002g0271 a0005c0020t0002g0271	1	372	0.0027	41	c.440 others(58): Show c.4403-250_4403-210dupTAGGCCGTCCACTCTCTCTCTCTCTCAG GCTGCAGGTGCAC	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	45/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A3_chr2_227159624_227319792	227249230	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0097 a0001c0001t0002g0097	1	344	0.0029	41	c.546 others(56): Show c.546+711_546+712insATATATATATATATATATATATATATATAT ATATATATTTT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	9/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227249230	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0005 a0005	a0005c0029 a0005c0029	a0005c0029t0015 a0005c0029t0015	a0005c0029t0015g0295 a0005c0029t0015g0295	1	344	0.0029	41	c.546 others(56): Show c.546+711_546+712insATATATATATATATATATATATATATATAT ATTTTTTTTTT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	9/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227249230	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0003 a0004c0003t0003	a0004c0003t0003g0031 a0004c0003t0003g0031	1	344	0.0029	41	c.546 others(56): Show c.546+711_546+712insATATATATATATATATATATATATATATTT TTTTTTTTTTT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	9/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227249230	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0006 a0006	a0006c0034 a0006c0034	a0006c0034t0006 a0006c0034t0006	a0006c0034t0006g0070 a0006c0034t0006g0070	1	344	0.0029	41	c.546 others(56): Show c.546+711_546+712insATATATATATATATATATATATATATTTTT TTTTTTTTTTT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	9/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL6A1_chr21_45976770_46010048	45981621	C C	CCTCTCCT others(34): Show CCTCTCCTCCCGCCCCTCCCCTCCCCTCCCCCTCCCGCCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0094 a0001c0001t0002g0094	1	128	0.0078	41	c.-23 others(50): Show c.-230_-229insCTCTCCTCCCGCCCCTCCCCTCCCCTCCCCCTCCCG CCCCG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		148		chr21	TogoVar
COL6A2_chr21_46093112_46134801	46134545	G G	GAGGTCAG others(34): Show GAGGTCAGGTTTAGGGTCAGGGTGAGGGTCAGGTTTAGGGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	372	0.0027	41	c.50 others(52): Show c.5054_*5055insAGGTCAGGTTTAGGGTCAGGGTGAGGGTCAGGTT TAGGGTC	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4745		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134545	G G	GAGGTCAG others(34): Show GAGGTCAGGTTTAGGGTCAGGGTGAGGGTCAGGTTTAGGGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0229	1	364	0.0028	41	c.19 others(52): Show c.1993_*1994insAGGTCAGGTTTAGGGTCAGGGTGAGGGTCAGGTT TAGGGTC	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1698		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46135805	C C	CCCCTCCC others(34): Show CCCCTCCCCAGCGTTCCCTCCCAGCCTCCCCTCCCCAGCGTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG02109.hp1 HG02132.hp1 others(10): Show HG00438.hp1 HG02109.hp1 HG02132.hp1 HG02132.hp2 HG02257.hp1 HG02451.hp2 HG02486.hp2 HG02622.hp2 HG02647.hp2 HG02717.hp1 HG06807.hp1 NA18906.hp1 NA19030.hp2	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0007	a0001c0002 a0001c0046 a0002c0003 others(5): Show a0001c0002 a0001c0046 a0002c0003 a0002c0012 a0002c0029 a0006c0028 a0006c0056 a0007c0030	a0001c0002t0002 a0001c0046t0001 a0002c0003t0001 others(5): Show a0001c0002t0002 a0001c0046t0001 a0002c0003t0001 a0002c0012t0007 a0002c0029t0001 a0006c0028t0001 a0006c0056t0001 a0007c0030t0002	a0001c0002t0002g0297 a0001c0046t0001g0249 a0002c0003t0001g0027 others(10): Show a0001c0002t0002g0297 a0001c0046t0001g0249 a0002c0003t0001g0027 a0002c0003t0001g0081 a0002c0012t0007g0029 a0002c0012t0007g0032 a0002c0012t0007g0095 a0002c0029t0001g0062 a0002c0029t0001g0089 a0006c0028t0001g0096 a0006c0056t0001g0097 a0007c0030t0002g0092 a0007c0030t0002g0093	13	364	0.0357	41	c.32 others(52): Show c.3253_*3254insCCCTCCCCAGCGTTCCCTCCCAGCCTCCCCTCCC CAGCGTT	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		2958		chr21	TogoVar
COL9A2_chr1_40295489_40322286	40318314	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATATATATATATATTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	438	0.0023	41	c.-11 others(52): Show c.-1118_-1117insAAATATATATATATATATATATATATATATATAT ATATATA	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		1029		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40318314	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATATATATATTTATTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0026 a0002c0002t0004g0026	1	438	0.0023	41	c.-11 others(52): Show c.-1118_-1117insAAATAAATATATATATATATATATATATATATAT ATATATA	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		1029		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40318314	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATATATATTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0004 a0003c0005t0001g0004	1	438	0.0023	41	c.-11 others(52): Show c.-1118_-1117insAAAAAAAAATATATATATATATATATATATATAT ATATATA	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		1029		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40318314	A A	ATATATAT others(34): Show ATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	438	0.0023	41	c.-11 others(52): Show c.-1118_-1117insAAAAAAAAAAAAAAAAAAAAAAAAATATATATAT ATATATA	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		1029		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40318315	T T	TATATATA others(34): Show TATATATATATATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0136 a0002c0002t0001g0136	1	438	0.0023	41	c.-11 others(52): Show c.-1119_-1118insTATATATATATATATATATATATATATATATATA TATATAT	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		1030		chr1	TogoVar
COP1_chr1_175939831_176212286	176132808	T T	TACTATAT others(34): Show TACTATATATACACACATATACACATATGTACGTATATATAC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01099.hp2 HG01106.hp1 others(30): Show HG00597.hp2 HG01099.hp2 HG01106.hp1 HG01261.hp1 HG01891.hp2 HG02074.hp1 HG02080.hp1 HG02615.hp1 HG02922.hp2 HG03471.hp1 HG03492.hp1 HG04204.hp2 NA18747.hp2 NA18939.hp2 NA18946.hp1 NA18955.hp1 NA18956.hp2 NA18957.hp2 NA18959.hp1 NA18961.hp1 NA18979.hp1 NA18980.hp2 NA18986.hp1 NA18990.hp2 NA19003.hp2 NA19054.hp1 NA19058.hp2 NA19060.hp2 NA19062.hp1 NA19066.hp1 NA19074.hp2 NA19079.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0065 others(30): Show a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0010g0098	33	300	0.1100	41	c.968 others(58): Show c.968+2201_968+2202insGTATATATACGTACATATGTGTATATGT GTGTATATATAGT	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	8/19			chr1	TogoVar
COQ2_chr4_83258824_83289798	83276025	T T	TTTTTATA others(34): Show TTTTTATATAATATATAAAATATATATTATATATAATATATA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02451.hp1 HG02572.hp2 others(6): Show HG02280.hp1 HG02451.hp1 HG02572.hp2 HG02615.hp1 HG02818.hp1 HG03098.hp1 HG03516.hp1 HG03540.hp2 NA21309.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0010 a0002c0003t0001g0053 a0002c0003t0001g0055 others(3): Show a0002c0003t0001g0010 a0002c0003t0001g0053 a0002c0003t0001g0055 a0002c0003t0001g0056 a0002c0003t0001g0057 a0002c0003t0001g0058	9	344	0.0262	41	c.421 others(58): Show c.421-2449_421-2409dupTATATATTATATATAATATATATTTTAT ATATTATATAAAA	COQ2	ENSG00000173085.15	transcript	ENST00000647002.2	protein_coding	2/6			chr4	TogoVar
COX7B2_chr4_46729827_46914245	46782420	A A	ATTGTAAA others(34): Show ATTGTAAATGCACCAATCAGCACTCTGTGTCTAGCTCAAGGT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(201): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00609.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp2 HG00735.hp1 HG00738.hp1 HG01070.hp2 HG01074.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01243.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp2 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp2 HG02109.hp1 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02280.hp2 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03942.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18941.hp2 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18964.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18992.hp2 NA18994.hp1 NA18995.hp1 NA19000.hp2 NA19001.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19007.hp1 NA19009.hp2 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19058.hp1 NA19060.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp2 NA19082.hp2 NA19083.hp1 NA19085.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0000 a0001 a0002 a0000 a0001 a0002	a0000c0002 a0001c0001 a0002c0003 a0000c0002 a0001c0001 a0002c0003	a0000c0002t0003 a0001c0001t0001 a0001c0001t0002 others(6): Show a0000c0002t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0002c0003t0001	a0000c0002t0003g0233 a0001c0001t0001g0002 a0001c0001t0001g0075 others(199): Show a0000c0002t0003g0233 a0001c0001t0001g0002 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0092 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0186 a0001c0001t0001g0194 a0001c0001t0001g0211 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0254 a0001c0001t0001g0272 a0001c0001t0001g0276 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0286 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0002g0001 a0001c0001t0002g0007 a0001c0001t0002g0009 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0003g0096 a0001c0001t0003g0100 a0001c0001t0003g0107 a0001c0001t0003g0144 a0001c0001t0003g0148 a0001c0001t0003g0151 a0001c0001t0003g0175 a0001c0001t0003g0176 a0001c0001t0003g0201 a0001c0001t0003g0224 a0001c0001t0003g0225 a0001c0001t0003g0228 a0001c0001t0003g0229 a0001c0001t0003g0230 a0001c0001t0003g0231 a0001c0001t0003g0232 a0001c0001t0003g0234 a0001c0001t0003g0235 a0001c0001t0003g0240 a0001c0001t0003g0241 a0001c0001t0003g0242 a0001c0001t0003g0244 a0001c0001t0003g0245 a0001c0001t0003g0246 a0001c0001t0003g0247 a0001c0001t0003g0248 a0001c0001t0003g0251 a0001c0001t0003g0252 a0001c0001t0003g0253 a0001c0001t0003g0255 a0001c0001t0003g0256 a0001c0001t0003g0257 a0001c0001t0003g0258 a0001c0001t0003g0259 a0001c0001t0003g0260 a0001c0001t0003g0261 a0001c0001t0003g0262 a0001c0001t0003g0263 a0001c0001t0003g0264 a0001c0001t0003g0265 a0001c0001t0003g0266 a0001c0001t0003g0267 a0001c0001t0003g0268 a0001c0001t0003g0269 a0001c0001t0003g0270 a0001c0001t0003g0271 a0001c0001t0003g0273 a0001c0001t0003g0274 a0001c0001t0003g0275 a0001c0001t0003g0277 a0001c0001t0003g0278 a0001c0001t0003g0279 a0001c0001t0003g0281 a0001c0001t0004g0008 a0001c0001t0004g0035 a0001c0001t0004g0048 a0001c0001t0005g0004 a0001c0001t0005g0005 a0001c0001t0005g0006 a0001c0001t0006g0106 a0001c0001t0006g0172 a0001c0001t0007g0239 a0002c0003t0001g0078	204	300	0.6800	41	c.-49 others(60): Show c.-49-47220_-49-47180dupACCTTGAGCTAGACACAGAGTGCTGA TTGGTGCATTTACAA	COX7B2	ENSG00000170516.17	transcript	ENST00000355591.8	protein_coding	2/2			chr4	TogoVar
CPB1_chr3_148822811_148865187	148849953	C C	CCCATATA others(34): Show CCCATATAACTGCTTTGCAGAATAACATTCATCAGAAAGTCT	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	456	0.0022	41	c.981 others(58): Show c.981+4328_981+4368dupCCATATAACTGCTTTGCAGAATAACATT CATCAGAAAGTCT	CPB1	ENSG00000153002.12	transcript	ENST00000282957.9	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr3	TogoVar
CPE_chr4_165374008_165503547	165461186	A A	AAAAAAAA others(34): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAGAAAGAAAAAG	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01255.hp2 HG02145.hp1 others(6): Show HG01074.hp1 HG01255.hp2 HG02145.hp1 HG02602.hp2 HG03491.hp1 NA18949.hp1 NA18953.hp1 NA18981.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0024 a0001c0001t0001g0070 a0001c0001t0001g0094 others(6): Show a0001c0001t0001g0024 a0001c0001t0001g0070 a0001c0001t0001g0094 a0001c0001t0001g0105 a0001c0001t0001g0109 a0001c0001t0001g0117 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0003g0273	9	332	0.0271	41	c.308 others(58): Show c.308-3203_308-3202insAAAAAAAAAAAAAAAAAAAAAAAAAGAA AGAAAGAAAAAGA	CPE	ENSG00000109472.14	transcript	ENST00000402744.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
CPE_chr4_165374008_165503547	165461186	A A	AAAAAAAA others(34): Show AAAAAAAAAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAAAAG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03098.hp1 HG02965.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0163 a0001c0001t0002g0007 a0001c0001t0001g0163 a0001c0001t0002g0007	2	332	0.0060	41	c.308 others(58): Show c.308-3203_308-3202insAAAAAAAAAAAAAAAAAAAAAGAAAGAA AGAAAGAAAAAGA	CPE	ENSG00000109472.14	transcript	ENST00000402744.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
CPN1_chr10_100037193_100086869	100064246	C C	CTATACAG others(34): Show CTATACAGTGGACAAAGTGAGATCAATGGAGAAAAAAACAAT	intron_variant intron_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0237	1	348	0.0029	41	c.760 others(56): Show c.760-562_760-522dupATTGTTTTTTTCTCCATTGATCTCACTTTG TCCACTGTATA	CPN1	ENSG00000120054.12	transcript	ENST00000370418.8	protein_coding	4/8			chr10	TogoVar
CPNE7_chr16_89570758_89602246	89587126	G G	GCCGCCCC others(34): Show GCCGCCCCATGCCGCCCCCTCAGTCCGTGGCCCCGCCCCTCC	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0003 a0003c0006t0003	a0003c0006t0003g0145 a0003c0006t0003g0145	1	348	0.0029	41	c.927 others(54): Show c.927+31_927+32insATGCCGCCCCCTCAGTCCGTGGCCCCGCCCCT CCCCGCCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587755	A A	ACCCACAG others(34): Show ACCCACAGATACACGGCCCCCGTGTCACCCACAGATACACGG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0006 a0001c0007t0006	a0001c0007t0006g0064 a0001c0007t0006g0064	1	348	0.0029	41	c.927 others(56): Show c.927+656_927+657insACAGATACACGGCCCCCGTGTCACCCACAG ATACACGGCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587819	A A	ACCCACAG others(34): Show ACCCACAGATACACGGCCCCCGTGTCACCCACAGATACACGG	intron_variant intron_variant	MODIFIER	HG02723.hp2 NA20300.hp1 HG02723.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0006 a0001c0001t0001 a0001c0007t0006	a0001c0001t0001g0065 a0001c0007t0006g0064 a0001c0001t0001g0065 a0001c0007t0006g0064	2	348	0.0058	41	c.927 others(56): Show c.927+720_927+721insACAGATACACGGCCCCCGTGTCACCCACAG ATACACGGCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587819	A A	AGCCACAG others(34): Show AGCCACAGATACACGGCCCCCGTGTCAGCCACAGATACACGG	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0306 a0002c0003t0004g0306	1	348	0.0029	41	c.927 others(56): Show c.927+717_927+718insGCCACAGATACACGGCCCCCGTGTCAGCCA CAGATACACGG	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14			chr16	TogoVar
CPNE7_chr16_89570758_89602246	89588038	A A	ACCCACAG others(34): Show ACCCACAGATACACGGCCCCCGTGTCACCCACAGATACACGG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01261.hp1 others(6): Show HG01070.hp2 HG01071.hp1 HG01261.hp1 HG01496.hp2 HG01978.hp1 HG01993.hp2 HG02148.hp2 HG02293.hp1 HG02300.hp1	a0001 a0010 a0001 a0010	a0001c0005 a0010c0018 a0001c0005 a0010c0018	a0001c0005t0002 a0010c0018t0002 a0001c0005t0002 a0010c0018t0002	a0001c0005t0002g0003 a0001c0005t0002g0072 a0001c0005t0002g0193 others(5): Show a0001c0005t0002g0003 a0001c0005t0002g0072 a0001c0005t0002g0193 a0001c0005t0002g0212 a0001c0005t0002g0240 a0001c0005t0002g0247 a0001c0005t0002g0250 a0010c0018t0002g0246	9	348	0.0259	41	c.928 others(56): Show c.928-634_928-633insACAGATACACGGCCCCCGTGTCACCCACAG ATACACGGCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89588038	A A	ACCCACAG others(34): Show ACCCACAGATACACGGCCCCCGTGTCACCCACAGATACATGG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0010 a0001c0008t0002g0010	1	348	0.0029	41	c.928 others(56): Show c.928-634_928-633insACAGATACACGGCCCCCGTGTCACCCACAG ATACATGGCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89588038	A A	AGCCACAG others(34): Show AGCCACAGATACACGGCCCCCGTGTCACCCACAGATACACGG	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp1 HG01258.hp1 others(2): Show HG01168.hp2 HG01169.hp1 HG01258.hp1 HG01943.hp2 HG02293.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0001 a0002c0004t0002g0314 a0002c0004t0002g0001 a0002c0004t0002g0314	5	348	0.0144	41	c.928 others(56): Show c.928-637_928-636insGCCACAGATACACGGCCCCCGTGTCACCCA CAGATACACGG	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14			chr16	TogoVar
CPNE8_chr12_38647203_38910591	38902393	G G	GAAAGAAA others(34): Show GAAAGAAAGAAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	342	0.0029	41	c.98+ others(56): Show c.98+3043_98+3044insTTCTTTCTTTCTTTCTTTCTCTTTCTTTCT TTTCTTTCTTT	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	1/19			chr12	TogoVar
CPSF4_chr7_99433943_99462373	99440674	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATATATGTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0037 a0001c0001t0002g0037	1	364	0.0028	41	c.103 others(58): Show c.103+1490_103+1491insATATATATATATATATATATATATATAT ATGTTTTTTTTTT	CPSF4	ENSG00000160917.15	transcript	ENST00000292476.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPT1A_chr11_68749883_68846916	68817063	G G	GGTGTGTG others(34): Show GGTGTGTGTGGGTGCGTGTGTGTGGTTGTGTGTGTGTGGTGT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01081.hp1 HG01433.hp2 others(42): Show HG01074.hp1 HG01081.hp1 HG01433.hp2 HG01496.hp2 HG01934.hp2 HG01952.hp1 HG02015.hp1 HG02015.hp2 HG02055.hp1 HG02071.hp2 HG02109.hp2 HG02148.hp2 HG02258.hp1 HG02280.hp1 HG02559.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp1 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp2 HG03139.hp1 HG03139.hp2 HG03471.hp1 HG03486.hp1 HG03540.hp2 HG03579.hp2 HG03710.hp1 HG04115.hp2 NA18950.hp1 NA18951.hp2 NA18962.hp1 NA18969.hp1 NA18975.hp1 NA19002.hp2 NA19077.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0008 a0002c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0018 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0024 a0001c0001t0028 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0008 a0001c0002t0010 a0001c0002t0023 a0001c0004t0041 a0001c0008t0005 a0002c0006t0011	a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0043 others(42): Show a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0043 a0001c0001t0001g0134 a0001c0001t0002g0008 a0001c0001t0003g0017 a0001c0001t0003g0198 a0001c0001t0003g0221 a0001c0001t0004g0024 a0001c0001t0018g0230 a0001c0001t0018g0232 a0001c0001t0020g0197 a0001c0001t0021g0160 a0001c0001t0022g0016 a0001c0001t0024g0120 a0001c0001t0028g0119 a0001c0001t0038g0228 a0001c0001t0039g0226 a0001c0001t0040g0231 a0001c0002t0001g0040 a0001c0002t0001g0212 a0001c0002t0002g0009 a0001c0002t0002g0011 a0001c0002t0002g0015 a0001c0002t0002g0041 a0001c0002t0002g0042 a0001c0002t0002g0166 a0001c0002t0002g0167 a0001c0002t0002g0192 a0001c0002t0002g0193 a0001c0002t0002g0194 a0001c0002t0002g0195 a0001c0002t0002g0200 a0001c0002t0002g0201 a0001c0002t0002g0214 a0001c0002t0002g0220 a0001c0002t0003g0153 a0001c0002t0003g0159 a0001c0002t0003g0211 a0001c0002t0008g0218 a0001c0002t0010g0010 a0001c0002t0023g0196 a0001c0004t0041g0229 a0001c0008t0005g0161 a0002c0006t0011g0165	45	236	0.1907	41	c.-13 others(58): Show c.-13-1617_-13-1577dupACACCACACACACACAACCACACACACG CACCCACACACAC	CPT1A	ENSG00000110090.13	transcript	ENST00000265641.10	protein_coding	1/18			chr11	TogoVar
CPT1A_chr11_68749883_68846916	68817063	G G	GGTGTGTG others(34): Show GGTGTGTGTGGGTGCGTGTGTGTGGTTGTGTTTGTGTGGTGT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0018 a0001c0001t0003g0018	1	236	0.0042	41	c.-13 others(58): Show c.-13-1577_-13-1576insACACCACACAAACACAACCACACACACG CACCCACACACAC	CPT1A	ENSG00000110090.13	transcript	ENST00000265641.10	protein_coding	1/18			chr11	TogoVar
CPTP_chr1_1319802_1333896	1324144	C C	CTGGGAGG others(34): Show CTGGGAGGCTGAGAGGCTGGGGAGCTGGGGAGCTGGGGGGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0004 a0001c0001t0007g0004	1	378	0.0027	41	c.-10 others(52): Show c.-1034_-1033insTGGGAGGCTGAGAGGCTGGGGAGCTGGGGAGCTG GGGGGCT	CPTP	ENSG00000224051.7	transcript	ENST00000343938.9	protein_coding		657		chr1	TogoVar
CREBBP_chr16_3720054_3885713	3849448	T T	TGTGTGTG others(34): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0146 a0001c0003t0002g0146	1	286	0.0035	41	c.798 others(56): Show c.798+808_798+848dupCACACACACACACACACACACACACACACA CACACACACAC	CREBBP	ENSG00000005339.15	transcript	ENST00000262367.10	protein_coding	2/30			chr16	TogoVar
CRLS1_chr20_6001123_6045053	6011572	C C	CTTTTTTT others(34): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA19058.hp2 NA18939.hp1 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0249 a0001c0001t0001g0231 a0001c0001t0001g0249	2	366	0.0055	41	c.444 others(58): Show c.444+1694_444+1695insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTT	CRLS1	ENSG00000088766.12	transcript	ENST00000378863.9	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
CRPPA_chr7_16082525_16426538	16102291	T T	TATACAAA others(34): Show TATACAAAAATTAACTCAAGATGGATTAAAGACTTCAACGTA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0083 a0001c0001t0083	a0001c0001t0083g0200 a0001c0001t0083g0200	1	290	0.0035	41	c.125 others(62): Show c.1252-10493_1252-10492insTACGTTGAAGTCTTTAATCCATCT TGAGTTAATTTTTGTAT	CRPPA	ENSG00000214960.11	transcript	ENST00000407010.7	protein_coding	9/9			chr7	TogoVar
CRY1_chr12_106986364_107098549	107026134	C C	CATATAAT others(34): Show CATATAATTACATATATATTACATATATAACATATATAACAT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0156 a0001c0001t0004g0156	1	320	0.0031	41	c.159 others(58): Show c.159-3943_159-3942insATGTTATATATGTTATATATGTAATATA TATGTAATTATAT	CRY1	ENSG00000008405.12	transcript	ENST00000008527.10	protein_coding	1/12			chr12	TogoVar
CRYBG1_chr6_106355717_106577017	106361969	C C	CTTTCTTT others(34): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01978.hp1 HG03704.hp2 others(2): Show HG01346.hp1 HG01978.hp1 HG03704.hp2 NA19009.hp2 NA19060.hp2	a0001 a0004 a0011 others(1): Show a0001 a0004 a0011 a0016	a0001c0001 a0004c0004 a0011c0014 others(1): Show a0001c0001 a0004c0004 a0011c0014 a0016c0023	a0001c0001t0001 a0004c0004t0002 a0011c0014t0001 others(1): Show a0001c0001t0001 a0004c0004t0002 a0011c0014t0001 a0016c0023t0001	a0001c0001t0001g0184 a0004c0004t0002g0181 a0011c0014t0001g0180 others(2): Show a0001c0001t0001g0184 a0004c0004t0002g0181 a0011c0014t0001g0180 a0011c0014t0001g0183 a0016c0023t0001g0182	5	272	0.0184	41	c.173 others(56): Show c.173+891_173+892insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTT	CRYBG1	ENSG00000112297.18	transcript	ENST00000633556.3	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
CSE1L_chr20_49041312_49101949	49100861	T T	TAAGCGTT others(34): Show TAAGCGTTCTGAGCATGTTTGAAGTAGGCTAGACTGAGCTAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	386	0.0026	41	c.44 others(52): Show c.4423_*4424insAAGCGTTCTGAGCATGTTTGAAGTAGGCTAGACT GAGCTAG	CSE1L	ENSG00000124207.17	transcript	ENST00000262982.3	protein_coding		3913		chr20	TogoVar
CSGALNACT1_chr8_19399161_19762277	19577401	C C	CAAAAAAA others(34): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02897.hp1 NA18522.hp1 HG02897.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0162 a0001c0002t0016g0173 a0001c0002t0016g0162 a0001c0002t0016g0173	2	238	0.0084	41	c.-29 others(62): Show c.-297+24369_-297+24370insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSH1_chr17_63889918_63901574	63898148	C C	CTTCTTTC others(34): Show CTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	428	0.0023	41	c.-16 others(52): Show c.-1638_-1637insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAA	CSH1	ENSG00000136488.15	transcript	ENST00000316193.13	protein_coding		1575		chr17	TogoVar
CSMD1_chr8_2930361_4999914	3305928	C C	CCTTGGCC others(34): Show CCTTGGCCTCCCAAGGTGCTGGGATTACAGGCATGAGCCACT	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0023 a0023	a0023c0095 a0023c0095	a0023c0095t0002 a0023c0095t0002	a0023c0095t0002g0124 a0023c0095t0002g0124	1	126	0.0079	41	c.395 others(60): Show c.3950+1726_3950+1766dupAGTGGCTCATGCCTGTAATCCCAGCA CCTTGGGAGGCCAAG	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	25/69			chr8	TogoVar
CSMD2_chr1_33508998_34170230	33510184	G G	GAGAGAGG others(34): Show GAGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0003 a0003	a0003c0048 a0003c0048	a0003c0048t0006 a0003c0048t0006	a0003c0048t0006g0032 a0003c0048t0006g0032	1	66	0.0152	41	c.64 others(52): Show c.6439_*6440insTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCT	CSMD2	ENSG00000121904.19	transcript	ENST00000373381.9	protein_coding		3813		chr1	TogoVar
CSMD3_chr8_112217928_113441939	112650864	T T	TACTAGAT others(34): Show TACTAGATATCCTGATATCTTCCTTGCAATTTACAAGATAGA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00673.hp2 HG01109.hp2 others(15): Show HG00423.hp1 HG00673.hp2 HG01109.hp2 HG01169.hp2 HG01175.hp1 HG01257.hp1 HG02258.hp1 HG02280.hp2 HG02735.hp2 HG02809.hp1 HG02922.hp2 HG03139.hp1 HG03471.hp1 HG03688.hp2 HG04115.hp2 NA19030.hp1 NA19043.hp2 NA19240.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0017	a0001c0001 a0001c0007 a0001c0021 others(8): Show a0001c0001 a0001c0007 a0001c0021 a0002c0003 a0002c0005 a0002c0010 a0002c0011 a0002c0033 a0003c0002 a0004c0004 a0017c0029	a0001c0001t0004 a0001c0001t0007 a0001c0007t0001 others(11): Show a0001c0001t0004 a0001c0001t0007 a0001c0007t0001 a0001c0021t0004 a0002c0003t0006 a0002c0003t0008 a0002c0005t0001 a0002c0010t0006 a0002c0011t0001 a0002c0033t0002 a0003c0002t0001 a0004c0004t0001 a0004c0004t0009 a0017c0029t0004	a0001c0001t0004g0015 a0001c0001t0004g0018 a0001c0001t0004g0042 others(15): Show a0001c0001t0004g0015 a0001c0001t0004g0018 a0001c0001t0004g0042 a0001c0001t0007g0045 a0001c0007t0001g0012 a0001c0007t0001g0043 a0001c0021t0004g0037 a0002c0003t0006g0061 a0002c0003t0008g0077 a0002c0005t0001g0027 a0002c0005t0001g0035 a0002c0010t0006g0064 a0002c0011t0001g0001 a0002c0033t0002g0029 a0003c0002t0001g0008 a0004c0004t0001g0076 a0004c0004t0009g0032 a0017c0029t0004g0063	18	80	0.2250	41	c.300 others(58): Show c.3005-516_3005-515insTCTATCTTGTAAATTGCAAGGAAGATAT CAGGATATCTAGT	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	18/70			chr8	TogoVar
CSNK1A1_chr5_149487982_149556439	149542692	A A	ATGTATAT others(34): Show ATGTATATATATATATATATATATATATGTATATATATATAT	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0360 a0001c0001t0002g0360	1	390	0.0026	41	c.230 others(58): Show c.230+7382_230+7383insATATATATATATACATATATATATATAT ATATATATATACA	CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9			chr5	TogoVar
CSNK1G2_chr19_1936172_1986338	1967793	C C	CCCAGGCT others(34): Show CCCAGGCTGCCCCCGACCACCCTTCAGTTCTGCAGGTGGGGG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00597.hp1 HG00423.hp2 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0289 a0001c0001t0001g0296 a0001c0001t0001g0289 a0001c0001t0001g0296	2	382	0.0052	41	c.-26 others(60): Show c.-265-1715_-265-1714insCCAGGCTGCCCCCGACCACCCTTCAG TTCTGCAGGTGGGGG	CSNK1G2	ENSG00000133275.16	transcript	ENST00000255641.13	protein_coding	1/11			chr19	TogoVar
CSNK1G2_chr19_1936172_1986338	1968192	C C	CCCAGGCT others(34): Show CCCAGGCTGCCCCCGACCACCCTTCAGTTCTGCAGGTGGGGG	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0372 a0001c0001t0027g0372	1	382	0.0026	41	c.-26 others(60): Show c.-265-1315_-265-1314insCAGGCTGCCCCCGACCACCCTTCAGT TCTGCAGGTGGGGGC	CSNK1G2	ENSG00000133275.16	transcript	ENST00000255641.13	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
CSNK2A2_chr16_58152907_58203106	58171979	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	400	0.0025	41	c.429 others(58): Show c.429+2471_429+2472insAAAAAAATATATATATATATATATATAT ATATATATATATA	CSNK2A2	ENSG00000070770.10	transcript	ENST00000262506.8	protein_coding	5/11			chr16	TogoVar
CSNK2A2_chr16_58152907_58203106	58171980	T T	TATATATA others(34): Show TATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0226	1	400	0.0025	41	c.429 others(58): Show c.429+2470_429+2471insTATATATATATATATATATATATATATA TATATATATATAT	CSNK2A2	ENSG00000070770.10	transcript	ENST00000262506.8	protein_coding	5/11			chr16	TogoVar
CSPP1_chr8_67059392_67201614	67159957	C C	CTTTTCTT others(34): Show CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG03669.hp2 NA18950.hp1 HG03669.hp2 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0156 a0001c0001t0001g0152 a0001c0001t0001g0156	2	158	0.0127	41	c.253 others(58): Show c.2538+823_2538+824insTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTT	CSPP1	ENSG00000104218.16	transcript	ENST00000678616.1	protein_coding	21/30		INFO_REALIGN_3_PRIME	chr8	TogoVar

Search by Variant

Search

Search Results (Total: 2600 hits)