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
CAMKK1_chr17_3855315_3898053	3867973	T T	TGGGGGAG others(32): Show TGGGGGAGAAGCAGGCGCCGTCTAACTGATACGTGGGCAC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02647.hp2 HG02809.hp2 others(3): Show HG02258.hp2 HG02647.hp2 HG02809.hp2 HG02922.hp1 HG03139.hp1 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0009 a0001c0002t0024 others(2): Show a0001c0002t0001 a0001c0002t0009 a0001c0002t0024 a0001c0002t0064 a0001c0002t0068	a0001c0002t0001g0350 a0001c0002t0009g0348 a0001c0002t0009g0349 others(3): Show a0001c0002t0001g0350 a0001c0002t0009g0348 a0001c0002t0009g0349 a0001c0002t0024g0195 a0001c0002t0064g0408 a0001c0002t0068g0414	6	431	0.0139	39	c.134 others(58): Show c.1341+1513_1341+1514insGTGCCCACGTATCAGTTAGACGGCGC CTGCTTCTCCCCC	CAMKK1	ENSG00000004660.15	transcript	ENST00000348335.7	protein_coding	14/15			chr17	TogoVar
CAMKK1_chr17_3855315_3898053	3868029	G G	GCCGTCTA others(32): Show GCCGTCTAACTGATACGTGGGCACGGGGGAGATGCAGGCA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01884.hp1 HG02015.hp1 others(5): Show HG00621.hp2 HG01884.hp1 HG02015.hp1 HG02135.hp2 HG02165.hp2 HG03669.hp1 NA20129.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0004 others(1): Show a0001c0002 a0001c0003 a0001c0004 a0002c0001	a0001c0002t0007 a0001c0002t0010 a0001c0002t0016 others(4): Show a0001c0002t0007 a0001c0002t0010 a0001c0002t0016 a0001c0003t0007 a0001c0004t0048 a0002c0001t0001 a0002c0001t0002	a0001c0002t0007g0069 a0001c0002t0007g0163 a0001c0002t0010g0270 others(5): Show a0001c0002t0007g0069 a0001c0002t0007g0163 a0001c0002t0010g0270 a0001c0002t0016g0377 a0001c0003t0007g0133 a0001c0004t0048g0194 a0002c0001t0001g0263 a0002c0001t0002g0085	8	427	0.0187	39	c.134 others(58): Show c.1341+1457_1341+1458insTGCCTGCATCTCCCCCGTGCCCACGT ATCAGTTAGACGG	CAMKK1	ENSG00000004660.15	transcript	ENST00000348335.7	protein_coding	14/15			chr17	TogoVar
CAMKK1_chr17_3855315_3898053	3868090	C C	CACGGGGG others(32): Show CACGGGGGAGATGCAGGCACCGTCTAACTGATACACAGGA	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0001 a0002c0001t0002g0001	1	383	0.0026	39	c.134 others(58): Show c.1341+1396_1341+1397insTCCTGTGTATCAGTTAGACGGTGCCT GCATCTCCCCCGT	CAMKK1	ENSG00000004660.15	transcript	ENST00000348335.7	protein_coding	14/15			chr17	TogoVar
CAMKK1_chr17_3855315_3898053	3868149	G G	GCCGTCTA others(32): Show GCCGTCTAACTGATACGTGGGCTCTGGGGGAGACGCAGGC	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA19057.hp1 NA18948.hp1 NA19057.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0008 a0002c0001t0004 a0001c0002t0008 a0002c0001t0004	a0001c0002t0008g0229 a0002c0001t0004g0033 a0001c0002t0008g0229 a0002c0001t0004g0033	2	444	0.0045	39	c.134 others(58): Show c.1341+1337_1341+1338insGCCTGCGTCTCCCCCAGAGCCCACGT ATCAGTTAGACGG	CAMKK1	ENSG00000004660.15	transcript	ENST00000348335.7	protein_coding	14/15			chr17	TogoVar
CAMKK1_chr17_3855315_3898053	3868170	C C	CACGGGGG others(32): Show CACGGGGGAGATGCAGGCACCGTCTAACTGATACGCGGGA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03098.hp1 NA18522.hp2 HG02257.hp2 HG03098.hp1 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0020 a0001c0005t0012 a0001c0005t0054 a0001c0002t0020 a0001c0005t0012 a0001c0005t0054	a0001c0002t0020g0026 a0001c0005t0012g0282 a0001c0005t0054g0175 a0001c0002t0020g0026 a0001c0005t0012g0282 a0001c0005t0054g0175	3	386	0.0078	39	c.134 others(58): Show c.1341+1316_1341+1317insTCCCGCGTATCAGTTAGACGGTGCCT GCATCTCCCCCGT	CAMKK1	ENSG00000004660.15	transcript	ENST00000348335.7	protein_coding	14/15			chr17	TogoVar
CAMKK1_chr17_3855315_3898053	3868210	C C	CACGGGGG others(32): Show CACGGGGGAGATGCAGGCACCGTCTAACTGATACACAGGA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0366 a0001c0003t0009g0366	1	402	0.0025	39	c.134 others(58): Show c.1341+1276_1341+1277insTCCTGTGTATCAGTTAGACGGTGCCT GCATCTCCCCCGT	CAMKK1	ENSG00000004660.15	transcript	ENST00000348335.7	protein_coding	14/15			chr17	TogoVar
CAMKK1_chr17_3855315_3898053	3868210	C C	CACGGGGG others(32): Show CACGGGGGAGATGCAGGCACCGTCTAACTGATACGCGGGA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02280.hp1 HG02572.hp1 others(4): Show HG02109.hp1 HG02280.hp1 HG02572.hp1 HG02976.hp1 HG03130.hp2 HG03225.hp2 NA20129.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0010 a0001c0004t0017 a0001c0004t0020 others(2): Show a0001c0004t0010 a0001c0004t0017 a0001c0004t0020 a0001c0004t0034 a0001c0004t0048	a0001c0004t0010g0285 a0001c0004t0017g0002 a0001c0004t0020g0027 others(2): Show a0001c0004t0010g0285 a0001c0004t0017g0002 a0001c0004t0020g0027 a0001c0004t0034g0029 a0001c0004t0048g0194	7	408	0.0172	39	c.134 others(58): Show c.1341+1276_1341+1277insTCCCGCGTATCAGTTAGACGGTGCCT GCATCTCCCCCGT	CAMKK1	ENSG00000004660.15	transcript	ENST00000348335.7	protein_coding	14/15			chr17	TogoVar
CAMKK1_chr17_3855315_3898053	3868250	C C	CACGGGGG others(32): Show CACGGGGGAGATGCAGGCACCGTCTAACTGATACGCGGGA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0008 a0002c0010t0008	a0002c0010t0008g0373 a0002c0010t0008g0373	1	438	0.0023	39	c.134 others(58): Show c.1341+1236_1341+1237insTCCCGCGTATCAGTTAGACGGTGCCT GCATCTCCCCCGT	CAMKK1	ENSG00000004660.15	transcript	ENST00000348335.7	protein_coding	14/15			chr17	TogoVar
CAMKMT_chr2_44356947_44777592	44410247	A A	AGACTATA others(32): Show AGACTATATATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19043.hp2 NA19084.hp1 NA19012.hp2 NA19043.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0061 a0001c0001t0001g0086 a0001c0001t0001g0052 a0001c0001t0001g0061 a0001c0001t0001g0086	3	107	0.0280	39	c.376 others(58): Show c.376+19942_376+19943insGACTATATATATATATATATATATAT ATATATATATTTT	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10			chr2	TogoVar
CAMKMT_chr2_44356947_44777592	44410247	A A	AGGCTATA others(32): Show AGGCTATATATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0107 a0001c0002t0001g0107	1	105	0.0095	39	c.376 others(58): Show c.376+19942_376+19943insGGCTATATATATATATATATATATAT ATATATATATTTT	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10			chr2	TogoVar
CAMSAP1_chr9_135803487_135912546	135892848	C C	CAAAAAAA others(32): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0006 a0001c0011t0006	a0001c0011t0006g0308 a0001c0011t0006g0308	1	81	0.0123	39	c.161 others(56): Show c.161-9771_161-9770insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT	CAMSAP1	ENSG00000130559.19	transcript	ENST00000389532.9	protein_coding	1/16			chr9	TogoVar
CAMTA1_chr1_6780454_7774706	7276303	A A	ATATATAT others(32): Show ATATATATATATATATATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	13	0.0769	39	c.438 others(58): Show c.438+26678_438+26679insATATATATATATATATATATATTTTT TTTTTTTTTTTTT	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CANT1_chr17_78986716_79014764	79004341	G G	GGAGTTAG others(32): Show GGAGTTAGGGAGGGGAGTTAGGGAGAGGAGTTAGGGAGAT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0020 a0001c0002t0020	a0001c0002t0020g0194 a0001c0002t0020g0194	1	390	0.0026	39	c.-14 others(58): Show c.-147+5322_-147+5323insATCTCCCTAACTCCTCTCCCTAACTC CCCTCCCTAACTC	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CANT1_chr17_78986716_79014764	79004454	A A	AGGGGAGT others(32): Show AGGGGAGTTAGGGAGAGGGGAGTTAGGGAGAGGAGTTGGG	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03579.hp1 HG03486.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	2	335	0.0060	39	c.-14 others(58): Show c.-147+5209_-147+5210insCCCAACTCCTCTCCCTAACTCCCCTC TCCCTAACTCCCC	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CANT1_chr17_78986716_79014764	79004643	G G	GGAGGTTA others(32): Show GGAGGTTAGGGAGGGGAGTTAGGGAGGGGAGTTAGGGAGA	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0090 a0001c0003t0002g0090	1	390	0.0026	39	c.-14 others(58): Show c.-147+5020_-147+5021insTCTCCCTAACTCCCCTCCCTAACTCC CCTCCCTAACCTC	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CANX_chr5_179693967_179736641	179710707	C C	CAAAAAAA others(32): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02922.hp2 NA19083.hp2 HG01192.hp2 HG02922.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0042 a0001c0001t0003g0048 a0001c0001t0003g0222 a0001c0001t0003g0042 a0001c0001t0003g0048 a0001c0001t0003g0222	3	108	0.0278	39	c.721 others(54): Show c.721+658_721+659insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	CANX	ENSG00000127022.16	transcript	ENST00000247461.9	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
CAPN11_chr6_44153820_44189401	44181966	T T	TACACACT others(32): Show TACACACTCACATACAGACACAACCACACCACACACACAC	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	1	452	0.0022	39	c.193 others(56): Show c.1938+679_1938+680insACACACACACACTCACATACAGACACAA CCACACCACAC	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN15_chr16_522712_559636	540661	G G	GGCTGGGG others(32): Show GGCTGGGGTCGCTGGCGGCTGCAGGCTCTGGGCATATTGC	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0075 a0001c0004t0003g0075	1	408	0.0025	39	c.-23 others(56): Show c.-23+4520_-23+4558dupGCTGGGGTCGCTGGCGGCTGCAGGCTCT GGGCATATTGC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPN3_chr15_42354501_42417317	42380751	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0001 a0002c0009t0001	a0002c0009t0001g0205 a0002c0009t0001g0205	1	100	0.0100	39	c.310 others(56): Show c.310-3731_310-3730insATATATATATATATATATATATATATAT TTTTTTTTTTT	CAPN3	ENSG00000092529.26	transcript	ENST00000397163.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr15	TogoVar
CARM1_chr19_10866553_10928075	10901948	C C	CAAAAAAA others(32): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0330 a0001c0001t0001g0330	1	346	0.0029	39	c.221 others(56): Show c.221-3001_221-3000insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAA	CARM1	ENSG00000142453.13	transcript	ENST00000327064.9	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr19	TogoVar
CASC3_chr17_40135537_40177171	40140349	C C	CACACACA others(32): Show CACACACACACACACACACACACACACACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	233	0.0043	39	c.-20 others(48): Show c.-200_-199insACACACACACACACACACACACACACACACACACAC ACA	CASC3	ENSG00000108349.17	transcript	ENST00000264645.12	protein_coding		187		chr17	TogoVar
CASR_chr3_122178668_122296629	122252448	A A	AGAAAGAA others(32): Show AGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02895.hp1 HG02897.hp2 others(2): Show HG02738.hp2 HG02895.hp1 HG02897.hp2 NA18950.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0001c0001t0010 a0001c0001t0014 others(1): Show a0001c0001t0003 a0001c0001t0010 a0001c0001t0014 a0002c0002t0017	a0001c0001t0003g0304 a0001c0001t0010g0295 a0001c0001t0014g0185 others(2): Show a0001c0001t0003g0304 a0001c0001t0010g0295 a0001c0001t0014g0185 a0001c0001t0014g0186 a0002c0002t0017g0272	5	269	0.0186	39	c.-24 others(58): Show c.-242-1500_-242-1499insGAAAGAAAGAAAAAGAAAGAAAGAAA GAAAGAAAGAAAG	CASR	ENSG00000036828.17	transcript	ENST00000639785.2	protein_coding	1/6			chr3	TogoVar
CATSPER2_chr15_43623503_43653844	43638286	C C	CTTTCTTT others(32): Show CTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0180 a0001c0001t0002g0180	1	206	0.0049	39	c.842 others(54): Show c.842+617_842+618insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAGAAA	CATSPER2	ENSG00000166762.19	transcript	ENST00000396879.8	protein_coding	7/12			chr15	TogoVar
CAV1_chr7_116520036_116566179	116534395	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03491.hp1 NA18941.hp2 NA19011.hp2 HG03491.hp1 NA18941.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0024 a0001c0001t0003g0036 a0001c0001t0003g0152 a0001c0001t0002g0024 a0001c0001t0003g0036 a0001c0001t0003g0152	3	121	0.0248	39	c.195 others(56): Show c.195+7707_195+7708insATATATATATATATATATATATATATAT ATTTTTTTTTT	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV1_chr7_116520036_116566179	116534395	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0177 a0001c0001t0002g0177	1	119	0.0084	39	c.195 others(56): Show c.195+7707_195+7708insATATATATATATATATATATATATATAT TTTTTTTTTTT	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
CBFA2T2_chr20_33485096_33655030	33545470	T T	TTTCTTTC others(32): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0029 a0002c0009t0029	a0002c0009t0029g0283 a0002c0009t0029g0283	1	285	0.0035	39	c.34+ others(56): Show c.34+55172_34+55173insTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTC	CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
CBFA2T3_chr16_88869858_88982207	88978544	C C	CCCTGACC others(32): Show CCCTGACCCTCCTGGTTTCCTCATTTGTGCAGGGTGCACG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	282	0.0035	39	c.-17 others(50): Show c.-1738_-1737insCGTGCACCCTGCACAAATGAGGAAACCAGGAGGG TCAGG	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding		1338		chr16	TogoVar
CCDC105_chr19_15005726_15028276	15018715	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0019 a0001c0004t0001g0019	1	249	0.0040	39	c.676 others(56): Show c.676-1746_676-1745insTATATATATATATATATATATATATATA TATATATATAT	CCDC105	ENSG00000160994.4	transcript	ENST00000292574.4	protein_coding	2/6			chr19	TogoVar
CCDC112_chr5_115262190_115301654	115298457	C C	CAGGAGGA others(32): Show CAGGAGGAGGAGGAGGAGAAGGAGGAGGAGGAGGAGAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG02559.hp2 NA21309.hp1 HG01243.hp2 HG02559.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	3	334	0.0090	39	c.-19 others(50): Show c.-1915_-1914insCCTTCTCCTCCTCCTCCTCCTTCTCCTCCTCCTC CTCCT	CCDC112	ENSG00000164221.13	transcript	ENST00000379611.10	protein_coding		1804		chr5	TogoVar
CCDC12_chr3_46916730_46981745	46951798	A A	AAAAAAAA others(32): Show AAAAAAAAAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0159 a0001c0001t0002g0159	1	43	0.0233	39	c.97- others(56): Show c.97-10734_97-10733insATATATATATATATATATATTTTTTTTT TTTTTTTTTTT	CCDC12	ENSG00000160799.12	transcript	ENST00000683445.1	protein_coding	1/6			chr3	TogoVar
CCDC12_chr3_46916730_46981745	46951798	A A	AAAAAAAA others(32): Show AAAAAAAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0165 a0001c0001t0002g0165	1	43	0.0233	39	c.97- others(56): Show c.97-10734_97-10733insATATATATATATATATATATATTTTTTT TTTTTTTTTTT	CCDC12	ENSG00000160799.12	transcript	ENST00000683445.1	protein_coding	1/6			chr3	TogoVar
CCDC12_chr3_46916730_46981745	46951798	A A	AAAAAAAA others(32): Show AAAAAAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0200 a0001c0001t0002g0200	1	43	0.0233	39	c.97- others(56): Show c.97-10734_97-10733insATATATATATATATATATATATATATTT TTTTTTTTTTT	CCDC12	ENSG00000160799.12	transcript	ENST00000683445.1	protein_coding	1/6			chr3	TogoVar
CCDC12_chr3_46916730_46981745	46951798	A A	AAAAAAAA others(32): Show AAAAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0217 a0001c0001t0002g0217	1	43	0.0233	39	c.97- others(56): Show c.97-10734_97-10733insATATATATATATATATATATATATATAT TTTTTTTTTTT	CCDC12	ENSG00000160799.12	transcript	ENST00000683445.1	protein_coding	1/6			chr3	TogoVar
CCDC148_chr2_158166073_158461753	158433091	A A	AAAAAAAA others(32): Show AAAAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0228 a0004c0003t0001g0228	1	66	0.0152	39	c.25+ others(56): Show c.25+23323_25+23324insATATATATATATATATATATATATATAT TTTTTTTTTTT	CCDC148	ENSG00000153237.19	transcript	ENST00000283233.10	protein_coding	1/13			chr2	TogoVar
CCDC18_chr1_93175724_93283730	93274624	A A	ACTTGAGA others(32): Show ACTTGAGACTAGGATTTCAAGGACAGCCTGGGCAACATAG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0170 a0001c0002t0001g0170	1	314	0.0032	39	c.435 others(58): Show c.4353+3812_4354-3799dupTTGAGACTAGGATTTCAAGGACAGCC TGGGCAACATAGC	CCDC18	ENSG00000122483.18	transcript	ENST00000690025.1	protein_coding	28/28		INFO_REALIGN_3_PRIME	chr1	TogoVar
CCDC194_chr19_17382196_17399196	17382276	A A	AAAGAAAG others(32): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 NA19079.hp2 HG01891.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0044 a0001c0001t0001g0001 a0001c0001t0001g0044	2	156	0.0128	39	c.82 others(50): Show c.8232_*8233insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTT	CCDC194	ENSG00000269720.3	transcript	ENST00000636079.2	protein_coding		4919		chr19	TogoVar
CCDC195_chr2_224698764_224721365	224699614	A A	AACATATT others(32): Show AACATATTGACCTTCATGATCTTATTTGATCTTTAAATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	410	0.0024	39	c.41 others(50): Show c.4149_*4150insGTATTTAAAGATCAAATAAGATCATGAAGGTCAA TATGT	CCDC195	ENSG00000283428.1	transcript	ENST00000638102.1	protein_coding		4149		chr2	TogoVar
CCDC200_chr17_43216420_43233623	43225677	A A	AAGTATAT others(32): Show AAGTATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00642.hp2 HG01069.hp1 others(13): Show HG00423.hp1 HG00642.hp2 HG01069.hp1 HG01071.hp2 HG01074.hp1 HG01255.hp1 HG01255.hp2 HG01346.hp2 HG01517.hp2 HG01928.hp1 HG01975.hp2 HG02602.hp2 HG02647.hp1 HG02698.hp1 HG02886.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0167 a0001c0001t0002g0210 others(4): Show a0001c0001t0002g0003 a0001c0001t0002g0167 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0239	16	213	0.0751	39	c.106 others(56): Show c.106-1129_106-1128insATATATATATATATATATATATATATAT ATATATATACT	CCDC200	ENSG00000236383.9	transcript	ENST00000636331.2	protein_coding	1/3			chr17	TogoVar
CCDC200_chr17_43216420_43233623	43225693	T T	TATATATA others(32): Show TATATATATATATATATATATATATATATATATATATAAA	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0084 a0001c0002t0001g0084	1	204	0.0049	39	c.106 others(56): Show c.106-1145_106-1144insTTTATATATATATATATATATATATATA TATATATATAT	CCDC200	ENSG00000236383.9	transcript	ENST00000636331.2	protein_coding	1/3			chr17	TogoVar
CCDC38_chr12_95862048_95947614	95908636	A A	AGAGGGAG others(32): Show AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01496.hp1 HG03453.hp1 others(2): Show HG00741.hp1 HG01496.hp1 HG03453.hp1 NA18939.hp2 NA18962.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0006c0011	a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 a0006c0011t0001	a0001c0001t0001g0119 a0001c0001t0001g0146 a0001c0002t0001g0114 others(2): Show a0001c0001t0001g0119 a0001c0001t0001g0146 a0001c0002t0001g0114 a0001c0005t0001g0068 a0006c0011t0001g0194	5	56	0.0893	39	c.305 others(56): Show c.305-2186_305-2185insCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTC	CCDC38	ENSG00000165972.13	transcript	ENST00000344280.8	protein_coding	4/15			chr12	TogoVar
CCDC40_chr17_80031642_80105613	80056016	A A	ATATATAT others(32): Show ATATATATATATATATATATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02683.hp2 HG00735.hp2 HG02683.hp2	a0001 a0019 a0001 a0019	a0001c0008 a0019c0076 a0001c0008 a0019c0076	a0001c0008t0004 a0019c0076t0004 a0001c0008t0004 a0019c0076t0004	a0001c0008t0004g0114 a0019c0076t0004g0113 a0001c0008t0004g0114 a0019c0076t0004g0113	2	23	0.0870	39	c.116 others(58): Show c.1160-2477_1160-2476insATATATATATATATATATTTTTTTTT TTTTTTTTTTTTT	CCDC40	ENSG00000141519.15	transcript	ENST00000397545.9	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr17	TogoVar
CCDC40_chr17_80031642_80105613	80056016	A A	ATATATAT others(32): Show ATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0004 a0001c0008t0004	a0001c0008t0004g0115 a0001c0008t0004g0115	1	22	0.0455	39	c.116 others(58): Show c.1160-2477_1160-2476insATATATATATATATATTTTTTTTTTT TTTTTTTTTTTTT	CCDC40	ENSG00000141519.15	transcript	ENST00000397545.9	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr17	TogoVar
CCDC42_chr17_8724935_8749836	8728171	C C	CCATCCAT others(32): Show CCATCCATCCATCCATTCTATCTATCTATCTATCTATCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	122	0.0082	39	c.19 others(50): Show c.1958_*1959insTAGATAGATAGATAGATAGATAGAATGGATGGAT GGATG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		1763		chr17	TogoVar
CCDC51_chr3_48427173_48445119	48436691	A A	ACCACTTT others(32): Show ACCACTTTCAACACCCTCTCTTCCCAACATCACTGCCCCT	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	384	0.0026	39	c.-8- others(54): Show c.-8-1594_-8-1556dupAGGGGCAGTGATGTTGGGAAGAGAGGGTGT TGAAAGTGG	CCDC51	ENSG00000164051.14	transcript	ENST00000395694.7	protein_coding	1/3			chr3	TogoVar
CCDC57_chr17_82096470_82217842	82115301	A A	AGGGGGCA others(32): Show AGGGGGCAAGAGGGGGCAAGAGGGGGCAAGAGGGGGCAAG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0018 a0018	a0018c0018 a0018c0018	a0018c0018t0003 a0018c0018t0003	a0018c0018t0003g0027 a0018c0018t0003g0027	1	247	0.0040	39	c.289 others(60): Show c.2899+12390_2899+12391insCTTGCCCCCTCTTGCCCCCTCTTG CCCCCTCTTGCCCCC	CCDC57	ENSG00000176155.21	transcript	ENST00000694881.1	protein_coding	18/18			chr17	TogoVar
CCDC61_chr19_45990467_46023616	46021878	G G	GGGGGGGG others(32): Show GGGGGGGGGTGGGGGGGGGGGGGGAGGAGGAAAAGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0314 a0004c0008t0001g0314	1	425	0.0024	39	c.34 others(50): Show c.3491_*3492insGGGGGGGGTGGGGGGGGGGGGGGAGGAGGAAAAG AGAGA	CCDC61	ENSG00000104983.8	transcript	ENST00000595358.5	protein_coding		3263		chr19	TogoVar
CCDC66_chr3_56552175_56626837	56556842	G G	GGGGGTGT others(32): Show GGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG03540.hp2 HG04184.hp2 others(2): Show HG02280.hp1 HG03540.hp2 HG04184.hp2 NA18942.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 a0001c0001t0001 a0001c0001t0002 a0002c0002t0002	a0001c0001t0001g0025 a0001c0001t0001g0118 a0001c0001t0001g0146 others(2): Show a0001c0001t0001g0025 a0001c0001t0001g0118 a0001c0001t0001g0146 a0001c0001t0002g0136 a0002c0002t0002g0279	5	113	0.0442	39	c.-40 others(48): Show c.-401_-400insGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGT	CCDC66	ENSG00000180376.17	transcript	ENST00000394672.8	protein_coding		332		chr3	TogoVar
CCDC66_chr3_56552175_56626837	56556842	G G	GGGTGTGT others(32): Show GGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19058.hp2 NA19065.hp1 NA19058.hp2 NA19065.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0004 a0001c0001t0001 a0003c0004t0004	a0001c0001t0001g0130 a0003c0004t0004g0198 a0001c0001t0001g0130 a0003c0004t0004g0198	2	110	0.0182	39	c.-40 others(48): Show c.-401_-400insGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGT	CCDC66	ENSG00000180376.17	transcript	ENST00000394672.8	protein_coding		332		chr3	TogoVar
CCDC66_chr3_56552175_56626837	56597777	G G	GTTTTTTT others(32): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02056.hp1 HG03834.hp1 others(1): Show HG00438.hp2 HG02056.hp1 HG03834.hp1 NA18941.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0003 a0002c0002t0005 a0002c0002t0002 a0002c0002t0003 a0002c0002t0005	a0002c0002t0002g0208 a0002c0002t0002g0242 a0002c0002t0003g0237 others(1): Show a0002c0002t0002g0208 a0002c0002t0002g0242 a0002c0002t0003g0237 a0002c0002t0005g0239	4	14	0.2857	39	c.140 others(58): Show c.1404+3764_1404+3765insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTT	CCDC66	ENSG00000180376.17	transcript	ENST00000394672.8	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
CCDC7_chr10_32441140_32887864	32828461	A A	AGAAGAAG others(32): Show AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAG	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0197 a0001c0002t0001g0197	1	274	0.0036	39	c.326 others(58): Show c.3268+3862_3268+3863insAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAGGAAGA	CCDC7	ENSG00000216937.14	transcript	ENST00000639629.2	protein_coding	33/43		INFO_REALIGN_3_PRIME	chr10	TogoVar

Search by Variant

Search

Search Results