Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
COL5A1_chr9_134636803_134849843	134712042	C C	CCCCCTTC others(22): Show CCCCCTTCTTCCTGCCCCCTTCTTCCTGGT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02572.hp1 HG02451.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0009 a0001c0005t0014 a0001c0001t0009 a0001c0005t0014	a0001c0001t0009g0233 a0001c0005t0014g0258 a0001c0001t0009g0233 a0001c0005t0014g0258	2	63	0.0317	29	c.654 others(48): Show c.654+10721_654+10722insGCCCCCTTCTTCCTGGTCCCCTTCTT CCT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	4/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL6A1_chr21_45976770_46010048	45978238	C C	CAGAGTGA others(22): Show CAGAGTGAGCGTGAGAGGAGGGAGGGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0004 a0002c0008t0004	a0002c0008t0004g0032 a0002c0008t0004g0032	1	125	0.0080	29	c.-36 others(40): Show c.-3613_-3612insAGAGTGAGCGTGAGAGGAGGGAGGGGGAG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		3531		chr21	TogoVar
COL6A1_chr21_45976770_46010048	45978248	C C	CGTGAGAG others(22): Show CGTGAGAGGAGGGAGGGGAGAGGAGTGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 NA19088.hp1 HG00423.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0006 a0001c0001t0002 a0001c0003t0006	a0001c0001t0002g0080 a0001c0003t0006g0059 a0001c0001t0002g0080 a0001c0003t0006g0059	2	29	0.0690	29	c.-36 others(40): Show c.-3603_-3602insGTGAGAGGAGGGAGGGGAGAGGAGTGAGG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		3521		chr21	TogoVar
COL6A1_chr21_45976770_46010048	45978262	G G	GGGGGAGA others(22): Show GGGGGAGAGGAGTGAGGGTGAGAGGAGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	126	0.0079	29	c.-35 others(40): Show c.-3589_-3588insGGGGAGAGGAGTGAGGGTGAGAGGAGGGA	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		3507		chr21	TogoVar
COL6A1_chr21_45976770_46010048	45981602	C C	CCGCCCCT others(22): Show CCGCCCCTCCCACTCCTCCCGCCCCTCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0009 a0001c0001t0002g0009	1	123	0.0081	29	c.-24 others(38): Show c.-249_-248insCGCCCCTCCCACTCCTCCCGCCCCTCCCT	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		167		chr21	TogoVar
COL6A1_chr21_45976770_46010048	45981618	T T	TCCCGCCC others(22): Show TCCCGCCCCTCCCCTCCCCTCCCCTCCCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00642.hp2 HG01515.hp2 others(3): Show HG00280.hp1 HG00642.hp2 HG01515.hp2 HG02148.hp2 HG02895.hp1 HG02895.hp2	a0001 a0002 a0006 others(2): Show a0001 a0002 a0006 a0008 a0012	a0001c0001 a0002c0002 a0006c0011 others(2): Show a0001c0001 a0002c0002 a0006c0011 a0008c0016 a0012c0015	a0001c0001t0002 a0002c0002t0010 a0006c0011t0002 others(2): Show a0001c0001t0002 a0002c0002t0010 a0006c0011t0002 a0008c0016t0014 a0012c0015t0002	a0001c0001t0002g0103 a0001c0001t0002g0105 a0002c0002t0010g0039 others(3): Show a0001c0001t0002g0103 a0001c0001t0002g0105 a0002c0002t0010g0039 a0006c0011t0002g0111 a0008c0016t0014g0090 a0012c0015t0002g0089	6	101	0.0594	29	c.-23 others(38): Show c.-233_-232insCCCGCCCCTCCCCTCCCCTCCCCTCCCGC	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		151		chr21	TogoVar
COL6A1_chr21_45976770_46010048	45981656	T T	TCCCGCCC others(22): Show TCCCGCCCCGCCCCTCCCCTCCCCTCCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0079 a0001c0001t0002g0079	1	72	0.0139	29	c.-19 others(38): Show c.-195_-194insCCCGCCCCGCCCCTCCCCTCCCCTCCCCG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		113		chr21	TogoVar
COL6A1_chr21_45976770_46010048	45981656	T T	TCCCGCCC others(22): Show TCCCGCCCCGCCCCTCCCCTCCCCTCCCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0002 a0001c0021t0002	a0001c0021t0002g0093 a0001c0021t0002g0093	1	72	0.0139	29	c.-19 others(38): Show c.-195_-194insCCCGCCCCGCCCCTCCCCTCCCCTCCCGC	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		113		chr21	TogoVar
COL6A3_chr2_237319018_237419164	237332117	A A	ATATATAT others(22): Show ATATATATATATATATATATTATATATATG	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0021 a0021	a0021c0132 a0021c0132	a0021c0132t0001 a0021c0132t0001	a0021c0132t0001g0281 a0021c0132t0001g0281	1	73	0.0137	29	c.932 others(48): Show c.9328+1332_9328+1333insCATATATATAATATATATATATATAT ATA	COL6A3	ENSG00000163359.17	transcript	ENST00000295550.9	protein_coding	42/43			chr2	TogoVar
COL8A1_chr3_99633594_99804217	99773815	G G	GTATATAT others(22): Show GTATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02717.hp2 HG01891.hp1 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0048 a0001c0001t0001g0051	2	201	0.0100	29	c.-3- others(46): Show c.-3-16842_-3-16841insATATATTATATATATATATATATATATA T	COL8A1	ENSG00000144810.16	transcript	ENST00000652472.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL8A1_chr3_99633594_99804217	99773815	G G	GTATATAT others(22): Show GTATATATATATATATATATATATATATTA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG03669.hp1 NA18943.hp2 HG02602.hp1 HG03669.hp1 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0001 a0001c0001t0001 a0001c0007t0001	a0001c0001t0001g0065 a0001c0001t0001g0069 a0001c0007t0001g0082 a0001c0001t0001g0065 a0001c0001t0001g0069 a0001c0007t0001g0082	3	202	0.0149	29	c.-3- others(46): Show c.-3-16842_-3-16841insATATTATATATATATATATATATATATA T	COL8A1	ENSG00000144810.16	transcript	ENST00000652472.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL8A1_chr3_99633594_99804217	99773837	A A	ATATATTA others(22): Show ATATATTATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	142	0.0070	29	c.-3- others(46): Show c.-3-16842_-3-16841insATATTATATATATATATATATATATATT T	COL8A1	ENSG00000144810.16	transcript	ENST00000652472.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL8A1_chr3_99633594_99804217	99773837	A A	ATATATTA others(22): Show ATATATTATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG02886.hp1 NA18522.hp2 HG02886.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0020 a0001c0001t0013g0021 a0001c0001t0013g0020 a0001c0001t0013g0021	2	143	0.0140	29	c.-3- others(46): Show c.-3-16842_-3-16841insATATTATATATATATATATATATATTTT T	COL8A1	ENSG00000144810.16	transcript	ENST00000652472.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL8A1_chr3_99633594_99804217	99773837	A A	ATATTATA others(22): Show ATATTATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0017 a0001c0001t0025g0017	1	142	0.0070	29	c.-3- others(46): Show c.-3-16842_-3-16841insATTATATATATATATATATATATATATT T	COL8A1	ENSG00000144810.16	transcript	ENST00000652472.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL8A1_chr3_99633594_99804217	99773837	A A	ATATTATA others(22): Show ATATTATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	142	0.0070	29	c.-3- others(46): Show c.-3-16842_-3-16841insATTATATATATATATATATATATATTTT T	COL8A1	ENSG00000144810.16	transcript	ENST00000652472.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL9A1_chr6_70211126_70308084	70227424	T T	TAAAAAAA others(22): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02572.hp1 NA19030.hp1 HG02055.hp2 HG02572.hp1 NA19030.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0032 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0032 a0002c0002t0001g0056 a0002c0002t0001g0057	3	163	0.0184	29	c.250 others(48): Show c.2504-1416_2504-1415insTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	COL9A1	ENSG00000112280.18	transcript	ENST00000357250.11	protein_coding	36/37			chr6	TogoVar
COL9A2_chr1_40295489_40322286	40318314	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp2 NA19068.hp1 HG01934.hp2 NA19068.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0004 a0001c0002t0001g0001 a0001c0002t0001g0004	2	130	0.0154	29	c.-11 others(40): Show c.-1118_-1117insATATATATATATATATATATATATATATA	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		1029		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40318314	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18960.hp1 NA18974.hp2 NA18960.hp1 NA18974.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	2	130	0.0154	29	c.-11 others(40): Show c.-1118_-1117insAAATATATATATATATATATATATATATA	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		1029		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40318314	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp2 NA18992.hp2 NA19091.hp1 HG02129.hp2 NA18992.hp2 NA19091.hp1	a0001 a0002 a0012 a0001 a0002 a0012	a0001c0002 a0002c0001 a0012c0025 a0001c0002 a0002c0001 a0012c0025	a0001c0002t0001 a0002c0001t0001 a0012c0025t0001 a0001c0002t0001 a0002c0001t0001 a0012c0025t0001	a0001c0002t0001g0001 a0002c0001t0001g0124 a0012c0025t0001g0122 a0001c0002t0001g0001 a0002c0001t0001g0124 a0012c0025t0001g0122	3	131	0.0229	29	c.-11 others(40): Show c.-1118_-1117insAAAAATATATATATATATATATATATATA	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		1029		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40318314	A A	ATATATAT others(22): Show ATATATATATTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG02895.hp1 HG02897.hp2	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0003 a0009c0011t0003	a0009c0011t0003g0044 a0009c0011t0003g0044	2	130	0.0154	29	c.-11 others(40): Show c.-1118_-1117insAAAAAAAAAAAAAAAAAAAAATATATATA	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		1029		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40318315	T T	TATATATA others(22): Show TATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp2 HG02027.hp1 NA18966.hp1 others(1): Show HG02015.hp2 HG02027.hp1 NA18966.hp1 NA19078.hp2	a0001 a0019 a0001 a0019	a0001c0002 a0019c0026 a0001c0002 a0019c0026	a0001c0002t0001 a0019c0026t0001 a0001c0002t0001 a0019c0026t0001	a0001c0002t0001g0028 a0001c0002t0001g0125 a0001c0002t0001g0131 others(1): Show a0001c0002t0001g0028 a0001c0002t0001g0125 a0001c0002t0001g0131 a0019c0026t0001g0130	4	420	0.0095	29	c.-11 others(40): Show c.-1119_-1118insTATATATATATATATATATATATATATAT	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		1030		chr1	TogoVar
COLEC11_chr2_3590112_3649644	3640777	T T	TGGACACC others(22): Show TGGACACCCACCCCCGTCACATCCCACAGC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0317 a0001c0001t0001g0317	1	351	0.0028	29	c.328 others(44): Show c.328+473_328+501dupAGCGGACACCCACCCCCGTCACATCCCAC	COLEC11	ENSG00000118004.18	transcript	ENST00000349077.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
COLGALT1_chr19_17550649_17588157	17584755	A A	AACAACGG others(22): Show AACAACGGAGGAGGAGGAAAAGAGAGAGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	394	0.0025	29	c.33 others(40): Show c.3311_*3312insACAACGGAGGAGGAGGAAAAGAGAGAGAT	COLGALT1	ENSG00000130309.12	transcript	ENST00000252599.9	protein_coding		1599		chr19	TogoVar
COMMD1_chr2_61900674_62141058	62095807	C C	CTATATAT others(22): Show CTATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	105	0.0095	29	c.463 others(48): Show c.463-40024_463-40023insTATATATATATATATATATATATATA TAT	COMMD1	ENSG00000173163.11	transcript	ENST00000311832.6	protein_coding	2/2			chr2	TogoVar
COPS9_chr2_240125828_240141305	240134404	A A	AAACCACT others(22): Show AAACCACTTCCCCGAGGAAACTGACCTGCT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	440	0.0023	29	c.64- others(42): Show c.64-428_64-400dupAGCAGGTCAGTTTCCTCGGGGAAGTGGTT	COPS9	ENSG00000172428.11	transcript	ENST00000607357.2	protein_coding	1/2			chr2	TogoVar
COPS9_chr2_240125828_240141305	240140904	A A	AAACAAAC others(22): Show AAACAAACCCAGTTTACTCTCCGCAAGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	440	0.0023	29	c.-46 others(40): Show c.-4649_-4621dupCTCCTTGCGGAGAGTAAACTGGGTTTGTT	COPS9	ENSG00000172428.11	transcript	ENST00000607357.2	protein_coding		4600		chr2	TogoVar
COQ7_chr16_19062614_19085095	19077590	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0055 a0002c0003t0002g0055	1	48	0.0208	29	c.576 others(44): Show c.576+230_576+231insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	COQ7	ENSG00000167186.11	transcript	ENST00000321998.10	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
CORIN_chr4_47589001_47843067	47632757	A A	ATAGATAG others(22): Show ATAGATAGATAGATAGATAGATAGATAGAT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0205 a0002c0003t0003g0205	1	205	0.0049	29	c.219 others(48): Show c.2199-6237_2199-6236insATCTATCTATCTATCTATCTATCTAT CTA	CORIN	ENSG00000145244.12	transcript	ENST00000273857.9	protein_coding	16/21			chr4	TogoVar
COX7A2L_chr2_42344338_42366217	42364250	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02004.hp2 HG02300.hp2 HG04204.hp1 HG02004.hp2 HG02300.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0006 a0001c0001t0003g0003 a0001c0001t0003g0006	3	178	0.0169	29	c.-30 others(40): Show c.-3090_-3089insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	COX7A2L	ENSG00000115944.15	transcript	ENST00000234301.3	protein_coding		3034		chr2	TogoVar
COX7A2_chr6_75232787_75248801	75248081	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	369	0.0027	29	c.-43 others(40): Show c.-4348_-4347insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	COX7A2	ENSG00000112695.13	transcript	ENST00000684430.2	protein_coding		4281		chr6	TogoVar
CPEB3_chr10_92041692_92296078	92095601	T T	TATATATA others(22): Show TATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0211 a0001c0001t0006g0211	1	184	0.0054	29	c.157 others(48): Show c.1573-3658_1573-3657insTATATATATATATATATATATATATA TAT	CPEB3	ENSG00000107864.15	transcript	ENST00000265997.5	protein_coding	7/9			chr10	TogoVar
CPEB3_chr10_92041692_92296078	92120098	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAACAAGCAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0140 a0001c0001t0015g0140	1	63	0.0159	29	c.145 others(48): Show c.1454-8905_1454-8904insTTTGCTTGTTTTTTTTTTTTTTTTTT TTT	CPEB3	ENSG00000107864.15	transcript	ENST00000265997.5	protein_coding	6/9			chr10	TogoVar
CPED1_chr7_120983711_121302442	121211561	A A	AGCAGGGT others(22): Show AGCAGGGTCCCAGAACAGCTATGGACCAAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00558.hp1 others(130): Show HG00408.hp1 HG00408.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01192.hp1 HG01192.hp2 HG01257.hp1 HG01257.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02109.hp1 HG02109.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03710.hp1 HG03710.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18952.hp1 NA18952.hp2 NA18979.hp1 NA18979.hp2 NA18998.hp1 NA18998.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19075.hp1 NA19075.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007	a0001c0001 a0001c0003 a0001c0007 others(14): Show a0001c0001 a0001c0003 a0001c0007 a0001c0008 a0001c0015 a0002c0002 a0002c0004 a0002c0017 a0003c0005 a0003c0006 a0003c0016 a0004c0009 a0004c0013 a0005c0011 a0005c0012 a0006c0010 a0007c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(34): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0001t0012 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0007 a0001c0003t0008 a0001c0003t0009 a0001c0003t0013 a0001c0007t0001 a0001c0008t0001 a0001c0015t0002 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0011 a0002c0004t0001 a0002c0004t0002 a0002c0017t0001 a0003c0005t0001 a0003c0005t0003 a0003c0006t0001 a0003c0016t0005 a0004c0009t0001 a0004c0013t0006 a0005c0011t0001 a0005c0012t0001 a0006c0010t0002 a0007c0014t0002	a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0056 others(130): Show a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0071 a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0042 a0001c0001t0002g0051 a0001c0001t0002g0062 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0078 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0122 a0001c0001t0002g0128 a0001c0001t0002g0138 a0001c0001t0003g0001 a0001c0001t0003g0008 a0001c0001t0003g0010 a0001c0001t0004g0032 a0001c0001t0004g0041 a0001c0001t0004g0064 a0001c0001t0004g0077 a0001c0001t0005g0003 a0001c0001t0005g0016 a0001c0001t0005g0021 a0001c0001t0010g0121 a0001c0001t0012g0126 a0001c0003t0001g0027 a0001c0003t0001g0030 a0001c0003t0001g0037 a0001c0003t0001g0038 a0001c0003t0001g0081 a0001c0003t0001g0082 a0001c0003t0001g0135 a0001c0003t0002g0028 a0001c0003t0002g0134 a0001c0003t0002g0136 a0001c0003t0002g0137 a0001c0003t0003g0004 a0001c0003t0003g0011 a0001c0003t0003g0022 a0001c0003t0003g0023 a0001c0003t0003g0024 a0001c0003t0003g0025 a0001c0003t0003g0026 a0001c0003t0004g0066 a0001c0003t0007g0012 a0001c0003t0007g0013 a0001c0003t0008g0031 a0001c0003t0008g0045 a0001c0003t0009g0117 a0001c0003t0013g0009 a0001c0007t0001g0113 a0001c0008t0001g0054 a0001c0015t0002g0123 a0002c0002t0001g0036 a0002c0002t0001g0070 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0080 a0002c0002t0001g0085 a0002c0002t0001g0087 a0002c0002t0001g0093 a0002c0002t0001g0103 a0002c0002t0001g0105 a0002c0002t0001g0109 a0002c0002t0001g0124 a0002c0002t0001g0127 a0002c0002t0001g0140 a0002c0002t0002g0063 a0002c0002t0002g0065 a0002c0002t0002g0069 a0002c0002t0002g0084 a0002c0002t0002g0098 a0002c0002t0002g0107 a0002c0002t0002g0108 a0002c0002t0002g0133 a0002c0002t0002g0139 a0002c0002t0003g0002 a0002c0002t0003g0014 a0002c0002t0003g0019 a0002c0002t0003g0020 a0002c0002t0004g0116 a0002c0002t0004g0129 a0002c0002t0004g0130 a0002c0002t0004g0131 a0002c0002t0005g0005 a0002c0002t0005g0006 a0002c0002t0005g0007 a0002c0002t0011g0132 a0002c0004t0001g0102 a0002c0004t0002g0044 a0002c0004t0002g0095 a0002c0004t0002g0100 a0002c0004t0002g0101 a0002c0004t0002g0119 a0002c0017t0001g0091 a0003c0005t0001g0046 a0003c0005t0003g0017 a0003c0005t0003g0018 a0003c0006t0001g0039 a0003c0006t0001g0040 a0003c0006t0001g0115 a0003c0016t0005g0015 a0004c0009t0001g0029 a0004c0009t0001g0050 a0004c0013t0006g0035 a0005c0011t0001g0052 a0005c0012t0001g0079 a0006c0010t0002g0099 a0007c0014t0002g0072	133	138	0.9638	29	c.205 others(50): Show c.2056-25149_2056-25148insGGTCCCAGAACAGCTATGGACCAA TGCAG	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPE_chr4_165374008_165503547	165461186	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAAGAAAGAAAGAAAAAG	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0062 a0001c0001t0002g0062	1	149	0.0067	29	c.308 others(46): Show c.308-3203_308-3202insAAAAAAAAAAAAAGAAAGAAAGAAAAAG A	CPE	ENSG00000109472.14	transcript	ENST00000402744.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
CPE_chr4_165374008_165503547	165481016	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	85	0.0118	29	c.673 others(46): Show c.673-1225_673-1224insATATATATATATATATATATATATATTT T	CPE	ENSG00000109472.14	transcript	ENST00000402744.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
CPLX2_chr5_175866578_175889021	175871458	A A	AGAGAGAG others(22): Show AGAGAGAGAGAGGAGAGAGAGAGAGAGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	212	0.0047	29	c.-33 others(38): Show c.-336_-335insGAGAGAGAGAGGAGAGAGAGAGAGAGAGG	CPLX2	ENSG00000145920.15	transcript	ENST00000393745.8	protein_coding		119		chr5	TogoVar
CPNE3_chr8_86509435_86566498	86527946	A A	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0005 a0004c0006t0005	a0004c0006t0005g0159 a0004c0006t0005g0159	1	110	0.0091	29	c.-10 others(44): Show c.-10-565_-10-564insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	CPNE3	ENSG00000085719.13	transcript	ENST00000517490.6	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPNE4_chr3_131528569_132040014	131642214	T T	TCCAGAGA others(22): Show TCCAGAGACCAGGAAGGTAATATACATGTG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0051 a0001c0004t0001g0051	1	92	0.0109	29	c.681 others(48): Show c.681+27432_681+27460dupCACATGTATATTACCTTCCTGGTCTC TGG	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	7/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131698233	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0040 a0001c0001t0013g0040	1	46	0.0217	29	c.433 others(46): Show c.433-1618_433-1617insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	4/15			chr3	TogoVar
CPNE8_chr12_38647203_38910591	38902393	G G	GAAAGAAA others(22): Show GAAAGAAAAGAAAGAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0028 a0001c0002t0028	a0001c0002t0028g0311 a0001c0002t0028g0311	1	179	0.0056	29	c.98+ others(44): Show c.98+3043_98+3044insTTCTTTCTTTCTTTCTCTTTCTTTTCTTT	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	1/19			chr12	TogoVar
CPQ_chr8_96640242_97148501	96854530	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01255.hp2 NA18979.hp2 HG01255.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0104 a0001c0001t0001g0078 a0001c0001t0001g0104	2	62	0.0323	29	c.641 others(48): Show c.641+19351_641+19379dupAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPQ_chr8_96640242_97148501	97122898	A A	AAAATAAA others(22): Show AAAATAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0097 a0001c0002t0001g0097	1	124	0.0081	29	c.125 others(50): Show c.1256-20089_1256-20061dupTAAAATAAAATAAAATAAAATAAA ATAAA	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPSF4_chr7_99433943_99462373	99440674	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0023 a0001c0003t0002g0023	1	161	0.0062	29	c.103 others(46): Show c.103+1490_103+1491insATATATATATATATATATATATATATTT T	CPSF4	ENSG00000160917.15	transcript	ENST00000292476.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPSF4_chr7_99433943_99462373	99440674	A A	ATATATAT others(22): Show ATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0107 a0001c0003t0002g0107	1	161	0.0062	29	c.103 others(46): Show c.103+1490_103+1491insATATATATATATATATATATTTTTTTTT T	CPSF4	ENSG00000160917.15	transcript	ENST00000292476.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPT1A_chr11_68749883_68846916	68838572	T T	TAAAAAAA others(22): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0004 a0001c0001t0013g0004	1	5	0.2000	29	c.-14 others(46): Show c.-14+3202_-14+3203insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	CPT1A	ENSG00000110090.13	transcript	ENST00000265641.10	protein_coding	1/18			chr11	TogoVar
CPT1C_chr19_49686116_49718731	49702085	A A	ATATTTAT others(22): Show ATATTTATTTATAAATTATAAATATATATT	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0307 a0002c0003t0004g0307	1	276	0.0036	29	c.693 others(44): Show c.693+475_693+503dupTATATTTATTTATTTATAAATTATAAATA	CPT1C	ENSG00000169169.15	transcript	ENST00000598293.6	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr19	TogoVar
CPT1C_chr19_49686116_49718731	49702114	T T	TTATTTAT others(22): Show TTATTTATTTATAAATTATAAATAAATATA	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0075 a0001c0001t0003g0075	1	291	0.0034	29	c.693 others(44): Show c.693+522_693+550dupAATTATAAATAAATATATATTTATTTATA	CPT1C	ENSG00000169169.15	transcript	ENST00000598293.6	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr19	TogoVar
CPT1C_chr19_49686116_49718731	49702143	A A	ATATTTAT others(22): Show ATATTTATTTATAAATTATAAATAAATATT	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	238	0.0042	29	c.693 others(44): Show c.693+537_693+538insTTATTTATTTATAAATTATAAATAAATAT	CPT1C	ENSG00000169169.15	transcript	ENST00000598293.6	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr19	TogoVar
CPT1C_chr19_49686116_49718731	49702163	A A	AATAAATA others(22): Show AATAAATATATATTTATTTATAAATTATAG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00642.hp2 NA19060.hp1 others(2): Show HG00544.hp1 HG00642.hp2 NA19060.hp1 NA19074.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0310 a0001c0001t0002g0023 a0001c0001t0002g0027 others(2): Show a0001c0001t0001g0310 a0001c0001t0002g0023 a0001c0001t0002g0027 a0001c0001t0002g0036 a0001c0001t0002g0037	5	322	0.0155	29	c.693 others(44): Show c.693+550_693+551insAATTATAGATAAATATATATTTATTTATA	CPT1C	ENSG00000169169.15	transcript	ENST00000598293.6	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr19	TogoVar
CR1_chr1_207491157_207646765	207643919	T T	TATATATA others(22): Show TATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0016 a0016	a0016c0022 a0016c0022	a0016c0022t0002 a0016c0022t0002	a0016c0022t0002g0027 a0016c0022t0002g0027	1	358	0.0028	29	c.45 others(40): Show c.4510_*4511insATATATATATATATATATATATATATATA	CR1	ENSG00000203710.12	transcript	ENST00000367049.9	protein_coding		2155		chr1	TogoVar

Search by Variant

Search

Search Results