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
COLEC12_chr18_311737_505701	497383	G G	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0222 a0002c0001t0222	a0002c0001t0222g0346 a0002c0001t0222g0346	1	366	0.0027	18	c.7+3 others(31): Show c.7+3107_7+3124dupACACACACACACACACAC	COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding	1/9			chr18	TogoVar
COLEC12_chr18_311737_505701	502305	G G	GCTTTCTT others(11): Show GCTTTCTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp1 HG01257.hp1 HG01258.hp2 others(1): Show HG01255.hp1 HG01257.hp1 HG01258.hp2 HG02258.hp2	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0001 a0003c0002 a0004c0006 a0002c0001 a0003c0002 a0004c0006	a0002c0001t0222 a0003c0002t0162 a0004c0006t0107 others(1): Show a0002c0001t0222 a0003c0002t0162 a0004c0006t0107 a0004c0006t0108	a0002c0001t0222g0346 a0003c0002t0162g0349 a0004c0006t0107g0348 others(1): Show a0002c0001t0222g0346 a0003c0002t0162g0349 a0004c0006t0107g0348 a0004c0006t0108g0347	4	366	0.0109	18	c.-17 others(29): Show c.-1792_-1791insAAAAAAAAAAAAAGAAAG	COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding		1605		chr18	TogoVar
COLGALT2_chr1_183930834_184042728	183977804	A A	AAGAGAGA others(11): Show AAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG03041.hp2 others(1): Show HG02896.hp2 HG02897.hp2 HG03041.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0010 a0001c0001t0009 a0001c0001t0010	a0001c0001t0009g0223 a0001c0001t0009g0224 a0001c0001t0009g0225 others(1): Show a0001c0001t0009g0223 a0001c0001t0009g0224 a0001c0001t0009g0225 a0001c0001t0010g0326	4	340	0.0118	18	c.374 others(33): Show c.374+605_374+606insCTCTCTCTCTCTCTCTCT	COLGALT2	ENSG00000198756.12	transcript	ENST00000361927.9	protein_coding	2/11			chr1	TogoVar
COLGALT2_chr1_183930834_184042728	183977812	A A	AAGAGAGA others(11): Show AAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02040.hp2 HG02056.hp2 others(18): Show HG00597.hp1 HG02040.hp2 HG02056.hp2 HG02083.hp2 HG02129.hp2 HG02132.hp1 HG02145.hp1 HG02155.hp1 HG02258.hp1 HG03130.hp2 HG03239.hp1 HG03927.hp2 HG04115.hp1 HG04199.hp1 NA18969.hp1 NA18975.hp2 NA18985.hp2 NA19004.hp1 NA19060.hp1 NA19068.hp2 NA19070.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0009	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003 a0004c0011 a0009c0014	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(12): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0014 a0001c0001t0030 a0001c0001t0032 a0001c0002t0002 a0001c0002t0006 a0001c0004t0004 a0002c0003t0003 a0004c0011t0005 a0009c0014t0009	a0001c0001t0001g0208 a0001c0001t0001g0288 a0001c0001t0004g0076 others(18): Show a0001c0001t0001g0208 a0001c0001t0001g0288 a0001c0001t0004g0076 a0001c0001t0004g0080 a0001c0001t0005g0135 a0001c0001t0007g0303 a0001c0001t0008g0053 a0001c0001t0009g0229 a0001c0001t0014g0072 a0001c0001t0030g0052 a0001c0001t0032g0085 a0001c0002t0002g0287 a0001c0002t0006g0081 a0001c0002t0006g0094 a0001c0002t0006g0098 a0001c0004t0004g0093 a0001c0004t0004g0095 a0002c0003t0003g0275 a0002c0003t0003g0277 a0004c0011t0005g0106 a0009c0014t0009g0273	21	340	0.0618	18	c.374 others(33): Show c.374+580_374+597dupCTCTCTCTCTCTCTCTCT	COLGALT2	ENSG00000198756.12	transcript	ENST00000361927.9	protein_coding	2/11			chr1	TogoVar
COLGALT2_chr1_183930834_184042728	184037754	A A	AGTGTGTG others(11): Show AGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG03491.hp1 HG00140.hp1 HG03491.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0011c0010 a0001c0001 a0011c0010	a0001c0001t0005 a0011c0010t0033 a0001c0001t0005 a0011c0010t0033	a0001c0001t0005g0143 a0011c0010t0033g0101 a0001c0001t0005g0143 a0011c0010t0033g0101	2	340	0.0059	18	c.-39 others(27): Show c.-398_-397insACACACACACACACACAC	COLGALT2	ENSG00000198756.12	transcript	ENST00000361927.9	protein_coding		27		chr1	TogoVar
COMMD10_chr5_116080025_116298287	116140231	A A	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01256.hp2 HG01261.hp1 others(1): Show HG00733.hp1 HG01256.hp2 HG01261.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 others(1): Show a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327	4	350	0.0114	18	c.510 others(35): Show c.510+6061_510+6078dupGTGTGTGTGTGTGTGTGT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
COMMD10_chr5_116080025_116298287	116212496	C C	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00735.hp1 HG00738.hp2 others(42): Show HG00280.hp2 HG00735.hp1 HG00738.hp2 HG01069.hp2 HG01071.hp1 HG01123.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp2 HG01516.hp2 HG01975.hp2 HG02055.hp2 HG02145.hp2 HG02257.hp2 HG02559.hp1 HG02602.hp1 HG02622.hp2 HG02630.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp2 HG02895.hp2 HG02897.hp1 HG03041.hp2 HG03471.hp2 HG03516.hp2 HG04228.hp1 NA18522.hp2 NA18947.hp1 NA18960.hp2 NA18986.hp2 NA18989.hp1 NA18998.hp2 NA19009.hp1 NA19030.hp1 NA19043.hp1 NA19056.hp1 NA19063.hp2 NA19070.hp1 NA19077.hp1 NA19079.hp1 NA19086.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0003 a0001c0001 a0001c0005 a0002c0003	a0001c0001t0001 a0001c0005t0001 a0002c0003t0001 a0001c0001t0001 a0001c0005t0001 a0002c0003t0001	a0001c0001t0001g0068 a0001c0001t0001g0079 a0001c0001t0001g0082 others(42): Show a0001c0001t0001g0068 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0192 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0271 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0308 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0320 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0005t0001g0104 a0001c0005t0001g0105 a0002c0003t0001g0011 a0002c0003t0001g0013 a0002c0003t0001g0014 a0002c0003t0001g0015 a0002c0003t0001g0016 a0002c0003t0001g0020 a0002c0003t0001g0021 a0002c0003t0001g0022 a0002c0003t0001g0032	45	350	0.1286	18	c.510 others(37): Show c.510+78328_510+78345dupGTGTGTGTGTGTGTGTGT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
COMMD10_chr5_116080025_116298287	116295608	A A	AAAAAAAA others(11): Show AAAAAAAAATAATAATAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0197 a0001c0001t0004g0197	1	350	0.0029	18	c.31 others(29): Show c.3119_*3120insAAAAAAAATAATAATAAT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding		2322		chr5	TogoVar
COMMD1_chr2_61900674_62141058	62063868	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01257.hp1 HG02040.hp2 others(6): Show HG00280.hp1 HG01257.hp1 HG02040.hp2 HG02523.hp2 HG02647.hp2 HG02723.hp2 HG02896.hp1 HG03490.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 others(6): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0134 a0001c0001t0001g0185 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0219 a0001c0002t0001g0177	9	286	0.0315	18	c.462 others(37): Show c.462+62899_462+62916dupATATATATATATATATAT	COMMD1	ENSG00000173163.11	transcript	ENST00000311832.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
COMMD1_chr2_61900674_62141058	62095807	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0252 a0001c0001t0002g0252	1	286	0.0035	18	c.463 others(37): Show c.463-40010_463-40009insATATATATATATATATAT	COMMD1	ENSG00000173163.11	transcript	ENST00000311832.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
COMMD7_chr20_32697699_32748467	32705376	A A	ATATATAT others(11): Show ATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0120 a0001c0001t0006g0120	1	400	0.0025	18	c.337 others(33): Show c.337-473_337-472insAAAAAATATATATATATA	COMMD7	ENSG00000149600.12	transcript	ENST00000278980.11	protein_coding	5/8			chr20	TogoVar
COMMD7_chr20_32697699_32748467	32714824	A A	AAACAACA others(11): Show AAACAACAACAACAACAAC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01255.hp2 HG01433.hp1 others(17): Show HG00280.hp2 HG01255.hp2 HG01433.hp1 HG01884.hp2 HG02148.hp2 HG02280.hp2 HG02602.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02738.hp2 HG02886.hp1 HG02922.hp2 HG02970.hp1 HG03017.hp2 HG03041.hp2 HG03139.hp2 HG03491.hp2 HG03927.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0033 a0001c0001t0001g0106 a0001c0001t0001g0108 others(17): Show a0001c0001t0001g0033 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0131 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0326 a0001c0001t0001g0329 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0336 a0001c0001t0001g0351 a0001c0001t0001g0352 a0001c0001t0001g0363 a0001c0001t0002g0361 a0001c0001t0004g0291 a0001c0001t0004g0292 a0001c0001t0004g0293 a0001c0001t0004g0294	20	400	0.0500	18	c.242 others(35): Show c.242-8082_242-8065dupGTTGTTGTTGTTGTTGTT	COMMD7	ENSG00000149600.12	transcript	ENST00000278980.11	protein_coding	3/8			chr20	TogoVar
COMMD7_chr20_32697699_32748467	32737379	A A	AAAAAAAA others(11): Show AAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(24): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00639.hp2 HG00733.hp2 HG00735.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01081.hp1 HG01169.hp1 HG01192.hp1 HG01243.hp1 HG01256.hp2 HG01361.hp1 HG01993.hp2 HG02148.hp1 HG02258.hp2 HG02280.hp1 HG02300.hp1 HG03017.hp1 HG03195.hp1 HG03239.hp1 HG03710.hp1 HG04228.hp1 NA20129.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0018 others(18): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0001g0125 a0001c0001t0001g0132 a0001c0001t0001g0136 a0001c0001t0001g0246 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0348 a0001c0001t0001g0349 a0001c0001t0001g0353 a0001c0001t0001g0356 a0001c0001t0003g0007	27	400	0.0675	18	c.84+ others(33): Show c.84+5928_84+5929insCTTTTTTTTTTTTTTTTT	COMMD7	ENSG00000149600.12	transcript	ENST00000278980.11	protein_coding	1/8			chr20	TogoVar
COMMD8_chr4_47445787_47468702	47447372	G G	GACACACA others(11): Show GACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG01256.hp1 HG01516.hp2 others(11): Show HG00642.hp1 HG01256.hp1 HG01516.hp2 HG01978.hp2 HG02004.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 NA18993.hp1 NA19060.hp1 NA19070.hp2 NA19081.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(5): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0076 a0001c0001t0001g0087 a0001c0001t0001g0092	14	396	0.0354	18	c.42 others(29): Show c.4272_*4273insGTGTGTGTGTGTGTGTGT	COMMD8	ENSG00000169019.11	transcript	ENST00000381571.6	protein_coding		3414		chr4	TogoVar
COMMD9_chr11_36267292_36294424	36270137	T T	TAGAGAGA others(11): Show TAGAGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00423.hp2 others(16): Show HG00140.hp1 HG00140.hp2 HG00423.hp2 HG01255.hp1 HG01358.hp2 HG01361.hp2 HG01517.hp1 HG02132.hp1 HG02155.hp1 HG02155.hp2 HG02683.hp1 HG03486.hp1 HG03927.hp2 NA18960.hp1 NA18986.hp2 NA19003.hp2 NA19058.hp2 NA19060.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(8): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0158 a0001c0001t0001g0167 a0001c0001t0001g0173 a0001c0001t0001g0178 a0001c0001t0002g0109	19	448	0.0424	18	c.44 others(29): Show c.4477_*4494dupCTCTCTCTCTCTCTCTCT	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding		2154		chr11	TogoVar
COMP_chr19_18777773_18796305	18787864	C C	CTTTTTCT others(11): Show CTTTTTCTTTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00738.hp2 HG01099.hp1 others(35): Show HG00323.hp2 HG00738.hp2 HG01099.hp1 HG01167.hp1 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01261.hp2 HG01433.hp1 HG01516.hp1 HG01891.hp1 HG01928.hp1 HG01934.hp1 HG01975.hp2 HG02027.hp2 HG02080.hp1 HG02135.hp1 HG02148.hp2 HG02258.hp1 HG02630.hp1 HG02717.hp1 HG02723.hp1 HG02809.hp2 HG02965.hp1 HG02970.hp2 HG03453.hp2 HG03688.hp1 HG03704.hp2 HG04228.hp1 NA18947.hp2 NA18948.hp1 NA18957.hp2 NA18982.hp2 NA19005.hp1 NA19030.hp2 NA19043.hp1 NA20905.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0005 a0002c0002 others(1): Show a0001c0001 a0001c0005 a0002c0002 a0006c0007	a0001c0001t0001 a0001c0005t0001 a0002c0002t0002 others(1): Show a0001c0001t0001 a0001c0005t0001 a0002c0002t0002 a0006c0007t0001	a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0021 others(21): Show a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0021 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0050 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0090 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0161 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0005t0001g0025 a0001c0005t0001g0070 a0001c0005t0001g0071 a0002c0002t0002g0067 a0002c0002t0002g0068 a0006c0007t0001g0056	38	398	0.0955	18	c.976 others(33): Show c.976-215_976-214insAAGAAAGAAAAAGAAAAA	COMP	ENSG00000105664.11	transcript	ENST00000222271.7	protein_coding	9/18			chr19	TogoVar
COMTD1_chr10_75228641_75240957	75232740	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	410	0.0024	18	c.13 others(29): Show c.1332_*1333insAAAAAAAAAAAAAAAAAA	COMTD1	ENSG00000165644.11	transcript	ENST00000372538.8	protein_coding		900		chr10	TogoVar
COMT_chr22_19936772_19974975	19951240	T T	TCCTCCCC others(11): Show TCCTCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0129 a0001c0002t0001g0129	1	426	0.0024	18	c.-92 others(35): Show c.-92+9345_-92+9346insTCCCCCCCCCCCCCCCCC	COMT	ENSG00000093010.15	transcript	ENST00000361682.11	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr22	TogoVar
COP1_chr1_175939831_176212286	175949168	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02258.hp2 HG02559.hp2 others(6): Show HG01192.hp2 HG02258.hp2 HG02559.hp2 HG02970.hp1 HG06807.hp1 NA19030.hp2 NA19064.hp2 NA19240.hp1 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0005 a0001c0002t0002g0006 a0001c0002t0002g0010 others(6): Show a0001c0002t0002g0005 a0001c0002t0002g0006 a0001c0002t0002g0010 a0001c0002t0002g0012 a0001c0002t0002g0013 a0001c0002t0002g0018 a0001c0002t0002g0020 a0001c0002t0002g0021 a0001c0002t0002g0030	9	300	0.0300	18	c.213 others(37): Show c.2134-1947_2134-1930dupTTTTTTTTTTTTTTTTTT	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	18/19			chr1	TogoVar
COP1_chr1_175939831_176212286	175951437	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18950.hp2 NA18989.hp2 NA18612.hp2 NA18950.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0109 a0001c0001t0001g0122 a0001c0001t0001g0123	3	300	0.0100	18	c.213 others(37): Show c.2134-4216_2134-4199dupATATATATATATATATAT	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	18/19			chr1	TogoVar
COP1_chr1_175939831_176212286	175955766	C C	CCACACAC others(11): Show CCACACACACACACACAAA	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG03688.hp1 HG02735.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0270 a0001c0001t0004g0272 a0001c0001t0004g0270 a0001c0001t0004g0272	2	300	0.0067	18	c.213 others(37): Show c.2134-8528_2134-8527insTTTGTGTGTGTGTGTGTG	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	18/19			chr1	TogoVar
COP1_chr1_175939831_176212286	175955766	C C	CCACACAC others(11): Show CCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01074.hp2 HG01175.hp1 others(22): Show HG00099.hp2 HG01074.hp2 HG01175.hp1 HG01257.hp2 HG01358.hp2 HG01433.hp2 HG01981.hp1 HG02004.hp1 HG02080.hp2 HG02145.hp1 HG02273.hp2 HG02300.hp2 HG02818.hp2 HG02897.hp1 HG03098.hp2 HG03471.hp1 NA18957.hp1 NA18967.hp1 NA18970.hp2 NA18993.hp2 NA19002.hp2 NA19084.hp2 NA19085.hp1 NA19090.hp1 NA20129.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0001 a0001c0001t0001 a0003c0004t0001	a0001c0001t0001g0054 a0001c0001t0001g0063 a0001c0001t0001g0064 others(22): Show a0001c0001t0001g0054 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0087 a0001c0001t0001g0091 a0001c0001t0001g0149 a0001c0001t0001g0153 a0001c0001t0001g0158 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0202 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0217 a0001c0001t0001g0221 a0001c0001t0001g0225 a0001c0001t0001g0231 a0001c0001t0001g0239 a0001c0001t0001g0246 a0003c0004t0001g0189 a0003c0004t0001g0226 a0003c0004t0001g0227	25	300	0.0833	18	c.213 others(37): Show c.2134-8545_2134-8528dupTGTGTGTGTGTGTGTGTG	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	18/19			chr1	TogoVar
COP1_chr1_175939831_176212286	175955767	C C	CACACACA others(11): Show CACACACACACACACACAA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0291 a0001c0001t0003g0291	1	300	0.0033	18	c.213 others(37): Show c.2134-8529_2134-8528insTTGTGTGTGTGTGTGTGT	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	18/19			chr1	TogoVar
COP1_chr1_175939831_176212286	175977035	T T	TTGTGAGT others(11): Show TTGTGAGTCATGGCATTAC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00609.hp2 HG00642.hp2 others(84): Show HG00597.hp2 HG00609.hp2 HG00642.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01192.hp1 HG01243.hp2 HG01256.hp1 HG01257.hp2 HG01261.hp1 HG01358.hp2 HG01891.hp2 HG02004.hp2 HG02056.hp2 HG02074.hp1 HG02080.hp1 HG02135.hp1 HG02145.hp1 HG02451.hp1 HG02572.hp1 HG02615.hp1 HG02630.hp1 HG02723.hp2 HG02738.hp1 HG02886.hp1 HG02922.hp2 HG03041.hp1 HG03471.hp1 HG03492.hp1 HG03492.hp2 HG03669.hp2 HG03688.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04204.hp2 HG04228.hp2 NA18612.hp2 NA18747.hp2 NA18939.hp2 NA18946.hp1 NA18948.hp1 NA18949.hp2 NA18950.hp2 NA18955.hp1 NA18956.hp2 NA18957.hp2 NA18959.hp1 NA18965.hp1 NA18967.hp2 NA18970.hp1 NA18974.hp2 NA18979.hp1 NA18980.hp2 NA18982.hp1 NA18986.hp1 NA18989.hp2 NA18990.hp2 NA18993.hp1 NA19002.hp1 NA19003.hp2 NA19005.hp1 NA19007.hp2 NA19030.hp1 NA19054.hp1 NA19056.hp1 NA19058.hp2 NA19060.hp2 NA19062.hp1 NA19066.hp1 NA19068.hp1 NA19074.hp2 NA19079.hp2 NA19080.hp1 NA19084.hp1 NA19085.hp2 NA19090.hp1 NA20805.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0003 a0007c0005 a0001c0001 a0002c0003 a0007c0005	a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 others(3): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0002c0003t0001 a0007c0005t0001	a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 others(84): Show a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0261 a0001c0001t0007g0002 a0001c0001t0009g0059 a0001c0001t0010g0098 a0002c0003t0001g0262 a0002c0003t0001g0263 a0002c0003t0001g0264 a0002c0003t0001g0265 a0002c0003t0001g0266 a0007c0005t0001g0031	87	300	0.2900	18	c.213 others(37): Show c.2133+9907_2133+9908insGTAATGCCATGACTCACA	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	18/19			chr1	TogoVar
COP1_chr1_175939831_176212286	176028696	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00642.hp2 HG00738.hp2 others(30): Show HG00140.hp2 HG00642.hp2 HG00738.hp2 HG01070.hp2 HG01099.hp2 HG01109.hp2 HG01433.hp1 HG01891.hp2 HG01934.hp1 HG01943.hp2 HG02056.hp1 HG02723.hp2 HG02818.hp2 HG02886.hp1 HG03139.hp1 HG03195.hp1 HG03927.hp1 HG03927.hp2 NA18612.hp2 NA18747.hp2 NA18939.hp1 NA18948.hp1 NA18955.hp1 NA18957.hp2 NA18959.hp1 NA18961.hp1 NA18967.hp2 NA18979.hp1 NA18980.hp2 NA19060.hp2 NA19080.hp1 NA19085.hp2 homoSapiens_chm13v2.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0007c0005 a0001c0001 a0001c0002 a0007c0005	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0007c0005t0001	a0001c0001t0001g0061 a0001c0001t0001g0068 a0001c0001t0001g0072 others(30): Show a0001c0001t0001g0061 a0001c0001t0001g0068 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0001g0104 a0001c0001t0001g0107 a0001c0001t0001g0112 a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0150 a0001c0001t0001g0163 a0001c0001t0001g0172 a0001c0001t0001g0203 a0001c0001t0001g0253 a0001c0001t0003g0282 a0001c0001t0003g0286 a0001c0001t0003g0288 a0001c0001t0003g0294 a0001c0002t0002g0007 a0001c0002t0002g0019 a0007c0005t0001g0031	33	300	0.1100	18	c.161 others(37): Show c.1613-1026_1613-1009dupATATATATATATATATAT	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	14/19			chr1	TogoVar
COP1_chr1_175939831_176212286	176173986	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	300	0.0033	18	c.565 others(35): Show c.565+1906_565+1923dupTTTTTTTTTTTTTTTTTT	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	3/19			chr1	TogoVar
COPB1_chr11_14452512_14504811	14454637	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 HG01069.hp2 HG01934.hp2 others(8): Show HG00621.hp1 HG01069.hp2 HG01934.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp2 HG02293.hp1 HG02717.hp2 HG02895.hp1 NA18959.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0151 a0001c0001t0001g0179 others(8): Show a0001c0001t0001g0015 a0001c0001t0001g0151 a0001c0001t0001g0179 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0207 a0001c0001t0001g0318 a0001c0001t0001g0332	11	386	0.0285	18	c.31 others(29): Show c.3186_*3187insTTTTTTTTTTTTTTTTTT	COPB1	ENSG00000129083.13	transcript	ENST00000439561.7	protein_coding		2874		chr11	TogoVar
COPB1_chr11_14452512_14504811	14470944	A A	ACACACAC others(11): Show ACACACACACACACACTCT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0243 a0001c0001t0001g0243	1	386	0.0026	18	c.173 others(37): Show c.1738-1382_1738-1381insAGAGTGTGTGTGTGTGTG	COPB1	ENSG00000129083.13	transcript	ENST00000439561.7	protein_coding	14/21			chr11	TogoVar
COPB1_chr11_14452512_14504811	14477389	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00735.hp1 HG01071.hp2 others(34): Show HG00642.hp1 HG00735.hp1 HG01071.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01258.hp2 HG01346.hp2 HG01433.hp2 HG01891.hp1 HG01934.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG02040.hp2 HG02055.hp1 HG02698.hp2 HG03130.hp1 HG03225.hp2 HG03516.hp2 HG03654.hp2 HG03710.hp2 HG04115.hp2 NA18950.hp1 NA18962.hp1 NA18964.hp2 NA18972.hp2 NA18985.hp1 NA18989.hp1 NA19000.hp2 NA19012.hp1 NA19058.hp1 NA19084.hp2 NA19087.hp1 NA19088.hp1 NA19090.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0170 a0001c0001t0001g0171 others(33): Show a0001c0001t0001g0018 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0179 a0001c0001t0001g0187 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0222 a0001c0001t0001g0227 a0001c0001t0001g0234 a0001c0001t0001g0283 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0290 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0316 a0001c0001t0001g0319 a0001c0001t0001g0322 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0353 a0001c0001t0001g0355 a0001c0001t0001g0357 a0001c0001t0001g0358 a0001c0001t0001g0359	37	386	0.0959	18	c.135 others(35): Show c.1359-375_1359-374insTTTTTTTTTTTTTTTTTT	COPB1	ENSG00000129083.13	transcript	ENST00000439561.7	protein_coding	11/21			chr11	TogoVar
COPG2_chr7_130501238_130673748	130513308	A A	AAAAAAAA others(11): Show AAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	326	0.0031	18	c.215 others(37): Show c.2150-4650_2150-4649insATATATATATATTTTTTT	COPG2	ENSG00000158623.14	transcript	ENST00000425248.5	protein_coding	20/23			chr7	TogoVar
COPG2_chr7_130501238_130673748	130513323	A A	ATATGTGT others(11): Show ATATGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0109 a0001c0002t0003g0109	1	326	0.0031	18	c.215 others(37): Show c.2150-4665_2150-4664insCACACACACACACACATA	COPG2	ENSG00000158623.14	transcript	ENST00000425248.5	protein_coding	20/23			chr7	TogoVar
COPG2_chr7_130501238_130673748	130513323	A A	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03927.hp2 NA18939.hp1 NA18941.hp1 others(8): Show HG03927.hp2 NA18939.hp1 NA18941.hp1 NA18964.hp1 NA18966.hp2 NA18998.hp2 NA19062.hp2 NA19064.hp2 NA19068.hp2 NA19081.hp1 NA19082.hp1	a0001 a0009 a0001 a0009	a0001c0002 a0009c0014 a0001c0002 a0009c0014	a0001c0002t0001 a0001c0002t0004 a0009c0014t0001 a0001c0002t0001 a0001c0002t0004 a0009c0014t0001	a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0075 others(8): Show a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0079 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0097 a0001c0002t0001g0118 a0001c0002t0004g0081 a0001c0002t0004g0100 a0009c0014t0001g0089	11	326	0.0337	18	c.215 others(37): Show c.2150-4665_2150-4664insCACACACACACACACACA	COPG2	ENSG00000158623.14	transcript	ENST00000425248.5	protein_coding	20/23			chr7	TogoVar
COPG2_chr7_130501238_130673748	130513341	A A	ATATATAT others(11): Show ATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	326	0.0031	18	c.215 others(37): Show c.2150-4683_2150-4682insCACATATATATATATATA	COPG2	ENSG00000158623.14	transcript	ENST00000425248.5	protein_coding	20/23			chr7	TogoVar
COPG2_chr7_130501238_130673748	130513341	A A	ATATATAT others(11): Show ATATATATATATATGTGTG	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0290 a0001c0001t0001g0290	1	326	0.0031	18	c.215 others(37): Show c.2150-4683_2150-4682insCACACATATATATATATA	COPG2	ENSG00000158623.14	transcript	ENST00000425248.5	protein_coding	20/23			chr7	TogoVar
COPS7A_chr12_6719046_6736865	6722552	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp1 HG03195.hp2 HG01074.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	2	474	0.0042	18	c.-16 others(29): Show c.-1671_-1670insAAAAAAAAAAAAAAAAAA	COPS7A	ENSG00000111652.10	transcript	ENST00000543155.6	protein_coding		1493		chr12	TogoVar
COPS7A_chr12_6719046_6736865	6733399	A A	AAAAAAAA others(11): Show AAAAAAAAAAAAAAAAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0057 a0001c0002t0004g0057	1	474	0.0021	18	c.23 others(29): Show c.2360_*2361insAAAAAAAAAAAAAAAAAG	COPS7A	ENSG00000111652.10	transcript	ENST00000543155.6	protein_coding		1535		chr12	TogoVar
COPZ1_chr12_54320131_54356846	54326123	G G	GAATAATA others(11): Show GAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01361.hp2 NA18991.hp2 others(4): Show HG00423.hp2 HG01361.hp2 NA18991.hp2 NA18993.hp2 NA19012.hp1 NA19062.hp2 NA19077.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0023 a0001c0002t0003g0024 a0001c0002t0003g0025 others(4): Show a0001c0002t0003g0023 a0001c0002t0003g0024 a0001c0002t0003g0025 a0001c0002t0003g0026 a0001c0002t0003g0027 a0001c0002t0003g0028 a0001c0002t0003g0029	7	368	0.0190	18	c.18+ others(31): Show c.18+945_18+946insAATAATAATAATAATAAT	COPZ1	ENSG00000111481.10	transcript	ENST00000262061.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
COPZ1_chr12_54320131_54356846	54326124	A A	AATAATTA others(11): Show AATAATTATTATTATTATT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0159 a0001c0001t0005g0159	1	368	0.0027	18	c.18+ others(31): Show c.18+945_18+946insAATTATTATTATTATTAT	COPZ1	ENSG00000111481.10	transcript	ENST00000262061.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
COPZ1_chr12_54320131_54356846	54326124	A A	AATTATTA others(11): Show AATTATTATTATTATTATT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00642.hp2 HG00735.hp2 others(26): Show HG00408.hp2 HG00642.hp2 HG00735.hp2 HG00738.hp2 HG01070.hp1 HG01255.hp1 HG01256.hp2 HG01358.hp1 HG01358.hp2 HG01993.hp2 HG02080.hp2 HG02083.hp2 HG02155.hp2 HG02293.hp2 HG03239.hp1 HG03831.hp1 HG03927.hp1 HG04115.hp2 NA18939.hp1 NA18950.hp2 NA18960.hp2 NA18979.hp1 NA18989.hp2 NA19007.hp1 NA19010.hp2 NA19060.hp1 NA19079.hp1 NA19081.hp1 NA20129.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0004 a0001c0001 a0001c0002 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0002t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0003 a0003c0004t0002	a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0002g0002 others(21): Show a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0016 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0174 a0001c0001t0002g0176 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0188 a0001c0001t0002g0288 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0002t0003g0184 a0003c0004t0002g0187	29	368	0.0788	18	c.18+ others(31): Show c.18+956_18+973dupATTATTATTATTATTATT	COPZ1	ENSG00000111481.10	transcript	ENST00000262061.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
COPZ2_chr17_48021167_48042797	48026119	A A	AACACACA others(11): Show AACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0019 a0002c0002t0002g0019	1	396	0.0025	18	c.30 others(27): Show c.308_*309insGTGTGTGTGTGTGTGTGT	COPZ2	ENSG00000005243.10	transcript	ENST00000621465.5	protein_coding		47		chr17	TogoVar
COQ5_chr12_120498279_120534158	120526698	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG02559.hp1 HG03516.hp2 HG01975.hp2 HG02559.hp1 HG03516.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0275 a0002c0003t0001g0320 a0002c0003t0001g0325 a0002c0003t0001g0275 a0002c0003t0001g0320 a0002c0003t0001g0325	3	388	0.0077	18	c.202 others(35): Show c.202+2224_202+2241dupAAAAAAAAAAAAAAAAAA	COQ5	ENSG00000110871.15	transcript	ENST00000288532.11	protein_coding	1/6			chr12	TogoVar
COQ7_chr16_19062614_19085095	19064341	C C	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp2 HG02717.hp2 HG02818.hp1 others(1): Show HG02135.hp2 HG02717.hp2 HG02818.hp1 HG03486.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0029 a0002c0003t0002g0059 a0002c0003t0002g0067 a0002c0003t0002g0029 a0002c0003t0002g0059 a0002c0003t0002g0067	4	372	0.0108	18	c.-33 others(29): Show c.-3324_-3323insTGTGTGTGTGTGTGTGTG	COQ7	ENSG00000167186.11	transcript	ENST00000321998.10	protein_coding		3272		chr16	TogoVar
COQ7_chr16_19062614_19085095	19064343	C C	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG01069.hp1 HG01071.hp1 others(16): Show HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01123.hp1 HG01256.hp2 HG01361.hp2 HG01433.hp1 HG01515.hp2 HG02080.hp1 HG02132.hp1 HG02630.hp1 HG02630.hp2 HG03491.hp2 NA18943.hp2 NA18963.hp2 NA18975.hp1 NA18987.hp2 NA19079.hp2 NA19087.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0003 a0001c0001 a0002c0002 a0002c0003	a0001c0001t0001 a0002c0002t0003 a0002c0003t0002 a0001c0001t0001 a0002c0002t0003 a0002c0003t0002	a0001c0001t0001g0116 a0002c0002t0003g0030 a0002c0003t0002g0006 others(11): Show a0001c0001t0001g0116 a0002c0002t0003g0030 a0002c0003t0002g0006 a0002c0003t0002g0007 a0002c0003t0002g0009 a0002c0003t0002g0010 a0002c0003t0002g0028 a0002c0003t0002g0046 a0002c0003t0002g0047 a0002c0003t0002g0050 a0002c0003t0002g0057 a0002c0003t0002g0063 a0002c0003t0002g0065 a0002c0003t0002g0070	19	372	0.0511	18	c.-33 others(29): Show c.-3322_-3321insTGTGTGTGTGTGTGTGTG	COQ7	ENSG00000167186.11	transcript	ENST00000321998.10	protein_coding		3270		chr16	TogoVar
COQ7_chr16_19062614_19085095	19064345	C C	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01952.hp1 HG04184.hp1 HG01952.hp1 HG04184.hp1	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0003 a0002c0003t0002 a0002c0002t0003 a0002c0003t0002	a0002c0002t0003g0074 a0002c0003t0002g0010 a0002c0002t0003g0074 a0002c0003t0002g0010	2	372	0.0054	18	c.-33 others(29): Show c.-3320_-3319insTGTGTGTGTGTGTGTGTG	COQ7	ENSG00000167186.11	transcript	ENST00000321998.10	protein_coding		3268		chr16	TogoVar
COQ7_chr16_19062614_19085095	19064347	C C	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0009 a0002c0006t0009	a0002c0006t0009g0165 a0002c0006t0009g0165	1	372	0.0027	18	c.-33 others(29): Show c.-3318_-3317insTGTGTGTGTGTGTGTGTG	COQ7	ENSG00000167186.11	transcript	ENST00000321998.10	protein_coding		3266		chr16	TogoVar
COQ7_chr16_19062614_19085095	19077590	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01496.hp2 HG02055.hp2 others(14): Show HG01109.hp2 HG01496.hp2 HG02055.hp2 HG02280.hp2 HG02486.hp1 HG02717.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG02970.hp1 HG03486.hp1 HG03669.hp1 HG03710.hp1 HG03710.hp2 HG06807.hp2 NA18522.hp2 NA18906.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0003 a0002c0002t0008 a0001c0001t0001 a0002c0002t0003 a0002c0002t0008	a0001c0001t0001g0161 a0002c0002t0003g0011 a0002c0002t0003g0014 others(5): Show a0001c0001t0001g0161 a0002c0002t0003g0011 a0002c0002t0003g0014 a0002c0002t0003g0072 a0002c0002t0003g0075 a0002c0002t0003g0078 a0002c0002t0003g0085 a0002c0002t0008g0011	17	372	0.0457	18	c.576 others(33): Show c.576+230_576+231insTTTTTTTTTTTTTTTTTT	COQ7	ENSG00000167186.11	transcript	ENST00000321998.10	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
COQ7_chr16_19062614_19085095	19077603	T T	TTTTTTTT others(11): Show TTTTTTTTTTTTTTTTTTC	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0074 a0002c0002t0003g0074	1	372	0.0027	18	c.576 others(33): Show c.576+230_576+231insTTTTTTTTTTTTTTTTCT	COQ7	ENSG00000167186.11	transcript	ENST00000321998.10	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
COQ8B_chr19_40686530_40721886	40697851	T T	TAGAGAGA others(11): Show TAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0277 a0001c0002t0001g0277	1	410	0.0024	18	c.114 others(37): Show c.1144-1815_1144-1798dupCTCTCTCTCTCTCTCTCT	COQ8B	ENSG00000123815.13	transcript	ENST00000324464.8	protein_coding	12/14			chr19	TogoVar
COQ8B_chr19_40686530_40721886	40697851	T T	TATATATA others(11): Show TATATATATATAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0166 a0001c0003t0001g0166	1	410	0.0024	18	c.114 others(37): Show c.1144-1798_1144-1797insCTCTCTCTATATATATAT	COQ8B	ENSG00000123815.13	transcript	ENST00000324464.8	protein_coding	12/14			chr19	TogoVar
COQ8B_chr19_40686530_40721886	40697875	G G	GAGAGAGA others(11): Show GAGAGAGAGAGAGAGAGAC	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18955.hp1 NA18980.hp2 NA18951.hp1 NA18955.hp1 NA18980.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0002t0001 a0001c0003t0001	a0001c0002t0001g0173 a0001c0002t0001g0326 a0001c0003t0001g0070 a0001c0002t0001g0173 a0001c0002t0001g0326 a0001c0003t0001g0070	3	410	0.0073	18	c.114 others(37): Show c.1144-1822_1144-1821insGTCTCTCTCTCTCTCTCT	COQ8B	ENSG00000123815.13	transcript	ENST00000324464.8	protein_coding	12/14			chr19	TogoVar

Search by Variant

Search

Search Results