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
CD2AP_chr6_47472789_47632263	47589379	T T	TATATACA others(19): Show TATATACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA19000.hp2 NA19054.hp2 NA18975.hp2 NA19000.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0039 a0001c0001t0017g0061 a0001c0001t0017g0084 a0001c0001t0017g0039 a0001c0001t0017g0061 a0001c0001t0017g0084	3	22	0.1364	26	c.110 others(45): Show c.1109-6481_1109-6480insTATACACACACACACACACACACACA	CD2AP	ENSG00000198087.7	transcript	ENST00000359314.5	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
CD2AP_chr6_47472789_47632263	47589565	C C	CACATATA others(19): Show CACATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp2 HG03492.hp1 others(3): Show HG01256.hp1 HG01258.hp2 HG03492.hp1 HG04184.hp2 HG04228.hp1 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0014 others(1): Show a0001c0001t0001 a0001c0001t0011 a0001c0001t0014 a0001c0001t0045	a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0011g0251 others(3): Show a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0011g0251 a0001c0001t0011g0253 a0001c0001t0014g0256 a0001c0001t0045g0287	6	154	0.0390	26	c.110 others(45): Show c.1109-6295_1109-6294insCATATATATATATATATATATATATA	CD2AP	ENSG00000198087.7	transcript	ENST00000359314.5	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
CD2AP_chr6_47472789_47632263	47589565	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0097 a0001c0001t0046g0097	1	149	0.0067	26	c.110 others(45): Show c.1109-6280_1109-6279insATATATATATATATATATATATATAT	CD2AP	ENSG00000198087.7	transcript	ENST00000359314.5	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
CD2AP_chr6_47472789_47632263	47610949	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0127 a0001c0001t0033g0127	1	206	0.0049	26	c.181 others(45): Show c.1815-1505_1815-1504insATATATATATATATATATATATATAT	CD2AP	ENSG00000198087.7	transcript	ENST00000359314.5	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
CD2AP_chr6_47472789_47632263	47610971	A A	ATATATAT others(19): Show ATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0104 a0001c0001t0022g0104	1	141	0.0071	26	c.181 others(45): Show c.1815-1501_1815-1500insATATATATATATATATATATATATTT	CD2AP	ENSG00000198087.7	transcript	ENST00000359314.5	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
CD300LB_chr17_74516174_74536475	74533641	G G	GAAAAGAA others(19): Show GAAAAGAAAAGAAAAGAAAAGGAAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp1 HG02083.hp1 HG02273.hp1 others(9): Show HG02027.hp1 HG02083.hp1 HG02273.hp1 HG03017.hp1 NA18747.hp2 NA18950.hp1 NA18957.hp2 NA18968.hp1 NA18985.hp1 NA19004.hp1 NA19058.hp1 NA19087.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0006 a0001c0002t0002g0002 a0001c0002t0002g0006	12	268	0.0448	26	c.-22 others(37): Show c.-2292_-2291insTCTTTCCTTTTCTTTTCTTTTCTTTT	CD300LB	ENSG00000178789.9	transcript	ENST00000392621.6	protein_coding		2167		chr17	TogoVar
CD300LB_chr17_74516174_74536475	74533641	G G	GAAAAGAA others(19): Show GAAAAGAAAAGGAAAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0052 a0001c0001t0002g0052	1	257	0.0039	26	c.-22 others(37): Show c.-2292_-2291insTCTCTCTCTCTCTTTCCTTTTCTTTT	CD300LB	ENSG00000178789.9	transcript	ENST00000392621.6	protein_coding		2167		chr17	TogoVar
CD36_chr7_80633642_80684274	80682921	A A	ATATATAC others(19): Show ATATATACGTATACGTGTATATATGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01943.hp1 HG01978.hp2 HG01981.hp1 HG01943.hp1 HG01978.hp2 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0036 a0001c0001t0001g0055 a0001c0001t0001g0030 a0001c0001t0001g0036 a0001c0001t0001g0055	3	388	0.0077	26	c.65 others(37): Show c.6538_*6539insTATATACGTATACGTGTATATATGTG	CD36	ENSG00000135218.19	transcript	ENST00000447544.7	protein_coding		3648		chr7	TogoVar
CD36_chr7_80633642_80684274	80683212	A A	ATGTGTAT others(19): Show ATGTGTATGTGTATATATACATATGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp1 HG01258.hp2 HG01358.hp1 HG01256.hp1 HG01258.hp2 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0017 a0001c0001t0005g0017 a0001c0001t0002g0017 a0001c0001t0005g0017	3	368	0.0082	26	c.68 others(37): Show c.6829_*6830insTGTGTATGTGTATATATACATATGTG	CD36	ENSG00000135218.19	transcript	ENST00000447544.7	protein_coding		3939		chr7	TogoVar
CD3G_chr11_118339344_118360161	118355411	A A	ATGTATAT others(19): Show ATGTATATATACACATATACGTATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp1 HG04184.hp2 HG02735.hp1 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0001 a0001c0001t0001g0008	2	427	0.0047	26	c.23 others(37): Show c.2311_*2312insTGTATATATACACATATACGTATATG	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		251		chr11	TogoVar
CD3G_chr11_118339344_118360161	118355641	A A	ATGTATAT others(19): Show ATGTATATATACACATATACATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 NA18986.hp1 NA19010.hp1 HG00738.hp1 NA18986.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0001 a0001c0001t0005g0001 a0001c0001t0001g0001 a0001c0001t0005g0001	3	439	0.0068	26	c.25 others(37): Show c.2541_*2542insTGTATATATACACATATACATATATG	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		481		chr11	TogoVar
CD44_chr11_35134171_35237402	35181672	A A	ATATATAT others(19): Show ATATATATATTTATATATATATTTATT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02647.hp2 HG02965.hp1 others(4): Show HG02622.hp2 HG02647.hp2 HG02965.hp1 HG02976.hp1 HG03139.hp1 HG03209.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 a0001c0001 a0001c0002 a0001c0008	a0001c0001t0005 a0001c0001t0007 a0001c0002t0008 others(2): Show a0001c0001t0005 a0001c0001t0007 a0001c0002t0008 a0001c0008t0002 a0001c0008t0014	a0001c0001t0005g0173 a0001c0001t0005g0176 a0001c0001t0007g0172 others(4): Show a0001c0001t0005g0173 a0001c0001t0005g0176 a0001c0001t0007g0172 a0001c0002t0008g0104 a0001c0002t0008g0174 a0001c0008t0002g0346 a0001c0008t0014g0175	7	376	0.0186	26	c.367 others(43): Show c.367+1280_367+1305dupTATATATTTATTTATATATATTTATA	CD44	ENSG00000026508.21	transcript	ENST00000428726.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr11	TogoVar
CD53_chr1_110868148_110904922	110886846	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0166 a0001c0001t0006g0166	1	306	0.0033	26	c.-17 others(43): Show c.-17-4522_-17-4521insATATATATATATATATATATATATAT	CD53	ENSG00000143119.14	transcript	ENST00000271324.6	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
CD6_chr11_60966680_61025377	60993322	G G	GAGAGAAT others(19): Show GAGAGAATGCAGCCTTCAGAGAACCAC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00639.hp1 HG01099.hp2 others(19): Show HG00140.hp2 HG00639.hp1 HG01099.hp2 HG01106.hp2 HG01123.hp1 HG01168.hp1 HG01169.hp1 HG01255.hp2 HG01256.hp1 HG01258.hp2 HG01261.hp2 HG01433.hp1 HG02004.hp2 HG02074.hp2 HG02165.hp1 HG02602.hp2 HG02615.hp2 HG02738.hp2 HG03017.hp1 HG03831.hp2 HG03834.hp1 NA18951.hp1	a0005 a0010 a0005 a0010	a0005c0006 a0010c0020 a0005c0006 a0010c0020	a0005c0006t0001 a0010c0020t0001 a0005c0006t0001 a0010c0020t0001	a0005c0006t0001g0009 a0005c0006t0001g0013 a0005c0006t0001g0029 others(17): Show a0005c0006t0001g0009 a0005c0006t0001g0013 a0005c0006t0001g0029 a0005c0006t0001g0033 a0005c0006t0001g0087 a0005c0006t0001g0090 a0005c0006t0001g0115 a0005c0006t0001g0117 a0005c0006t0001g0118 a0005c0006t0001g0123 a0005c0006t0001g0124 a0005c0006t0001g0158 a0005c0006t0001g0192 a0005c0006t0001g0199 a0005c0006t0001g0243 a0005c0006t0001g0244 a0005c0006t0001g0246 a0005c0006t0001g0275 a0005c0006t0001g0276 a0010c0020t0001g0043	22	300	0.0733	26	c.50- others(43): Show c.50-13251_50-13250insGAGAATGCAGCCTTCAGAGAACCACA	CD6	ENSG00000013725.14	transcript	ENST00000313421.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
CD6_chr11_60966680_61025377	60995724	A A	ATCTTTTC others(19): Show ATCTTTTCCCTGCTGTGAGGTCTGTGG	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0108 a0002c0003t0001g0108	1	300	0.0033	26	c.50- others(43): Show c.50-10849_50-10824dupTCTTTTCCCTGCTGTGAGGTCTGTGG	CD6	ENSG00000013725.14	transcript	ENST00000313421.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
CD83_chr6_14112772_14141906	14140508	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG03195.hp1 NA19011.hp1 HG00280.hp2 HG03195.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0006 a0001c0002t0001 a0001c0001t0003 a0001c0001t0006 a0001c0002t0001	a0001c0001t0003g0002 a0001c0001t0006g0006 a0001c0002t0001g0005 a0001c0001t0003g0002 a0001c0001t0006g0006 a0001c0002t0001g0005	3	108	0.0278	26	c.52 others(37): Show c.5272_*5273insAAAAAAAAAAAAAAAAAAAAAAAAAA	CD83	ENSG00000112149.10	transcript	ENST00000379153.4	protein_coding		3603		chr6	TogoVar
CD8B2_chr2_106482364_106516095	106482551	C C	CTAGCACT others(19): Show CTAGCACTTTGGGAGGCCGAGGCGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	348	0.0029	26	c.-48 others(37): Show c.-4876_-4875insTAGCACTTTGGGAGGCCGAGGCGGGT	CD8B2	ENSG00000254126.8	transcript	ENST00000643224.2	protein_coding		4812		chr2	TogoVar
CD96_chr3_111537197_111657372	111546919	T T	TACACACA others(19): Show TACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01256.hp2 HG03654.hp1 HG00438.hp2 HG01256.hp2 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0003g0211 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0003g0211	3	117	0.0256	26	c.418 others(43): Show c.418+1520_418+1545dupACACACACACACACACACACACACAC	CD96	ENSG00000153283.13	transcript	ENST00000352690.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
CD96_chr3_111537197_111657372	111581975	C C	CATAGGTT others(19): Show CATAGGTTTAGAGCTCATCTTACTGGG	intron_variant intron_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	298	0.0034	26	c.751 others(43): Show c.751+2743_751+2768dupTAGGTTTAGAGCTCATCTTACTGGGA	CD96	ENSG00000153283.13	transcript	ENST00000352690.9	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
CD99L2_chrX_150761336_150903668	150818051	C C	CATAATAA others(19): Show CATAATAATTTTAAATAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00323.hp2 others(17): Show HG00099.hp2 HG00280.hp1 HG00323.hp2 HG00738.hp1 HG00741.hp2 HG01081.hp2 HG01168.hp2 HG01255.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG02280.hp1 HG02559.hp1 HG02602.hp1 HG02630.hp1 HG02965.hp1 HG03209.hp1 HG03669.hp2 NA18979.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0013 a0001c0001t0015 a0001c0001t0017 a0001c0001t0028 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0002c0005t0041	a0001c0001t0001g0032 a0001c0001t0001g0107 a0001c0001t0001g0109 others(17): Show a0001c0001t0001g0032 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0156 a0001c0001t0002g0034 a0001c0001t0002g0037 a0001c0001t0002g0110 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0005g0155 a0001c0001t0006g0039 a0001c0001t0013g0033 a0001c0001t0013g0067 a0001c0001t0015g0151 a0001c0001t0017g0020 a0001c0001t0028g0070 a0001c0001t0035g0163 a0001c0001t0036g0161 a0001c0001t0037g0152 a0002c0005t0041g0209	20	210	0.0952	26	c.131 others(43): Show c.131-1974_131-1973insTTTTTTTTTTTATTTAAAATTATTAT	CD99L2	ENSG00000102181.22	transcript	ENST00000370377.8	protein_coding	2/10			chrX	TogoVar
CD99L2_chrX_150761336_150903668	150818053	T T	TAATAATT others(19): Show TAATAATTTTAAATAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG00642.hp1 others(19): Show HG00408.hp1 HG00438.hp1 HG00642.hp1 HG01070.hp1 HG01109.hp1 HG01192.hp1 HG01884.hp2 HG02055.hp1 HG02280.hp2 HG02615.hp1 HG02723.hp2 HG02886.hp1 HG03041.hp2 HG03098.hp1 HG04115.hp1 NA18906.hp1 NA18969.hp2 NA18981.hp1 NA19064.hp2 NA19240.hp2 NA20300.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0025 a0001c0001t0038 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0016 others(19): Show a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0123 a0001c0001t0002g0005 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0017 a0001c0001t0004g0012 a0001c0001t0007g0206 a0001c0001t0008g0160 a0001c0001t0009g0181 a0001c0001t0011g0124 a0001c0001t0011g0125 a0001c0001t0011g0179 a0001c0001t0013g0073 a0001c0001t0025g0162 a0001c0001t0038g0178 a0001c0002t0001g0010 a0001c0002t0001g0021 a0001c0002t0002g0011	22	203	0.1084	26	c.131 others(43): Show c.131-1976_131-1975insTTTTTTTTTTTTTATTTAAAATTATT	CD99L2	ENSG00000102181.22	transcript	ENST00000370377.8	protein_coding	2/10			chrX	TogoVar
CD99L2_chrX_150761336_150903668	150818201	G G	GATATATA others(19): Show GATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01496.hp2 HG01884.hp2 others(4): Show HG01192.hp1 HG01496.hp2 HG01884.hp2 HG02280.hp1 HG02615.hp1 HG03041.hp2 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0011 a0001c0001t0015 a0001c0001t0036	a0001c0001t0001g0015 a0001c0001t0002g0013 a0001c0001t0008g0160 others(4): Show a0001c0001t0001g0015 a0001c0001t0002g0013 a0001c0001t0008g0160 a0001c0001t0011g0124 a0001c0001t0011g0125 a0001c0001t0015g0151 a0001c0001t0036g0161	7	44	0.1591	26	c.131 others(43): Show c.131-2124_131-2123insATATATATATATATATATATATATAT	CD99L2	ENSG00000102181.22	transcript	ENST00000370377.8	protein_coding	2/10			chrX	TogoVar
CD99_chrX_2686295_2746309	2745435	C C	CTGTGTGT others(19): Show CTGTGTGTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG02809.hp1 HG03041.hp2 others(10): Show HG02622.hp2 HG02809.hp1 HG03041.hp2 HG03486.hp2 NA18906.hp2 NA18966.hp1 NA18974.hp1 NA19001.hp2 NA19065.hp2 NA19084.hp2 NA19240.hp1 NA20129.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0010 others(3): Show a0001c0001 a0001c0002 a0001c0010 a0001c0012 a0002c0003 a0002c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0002t0002 a0001c0010t0001 a0001c0012t0001 a0002c0003t0001 a0002c0006t0001	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0038 others(10): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0038 a0001c0001t0001g0090 a0001c0001t0001g0196 a0001c0001t0002g0181 a0001c0001t0005g0092 a0001c0002t0002g0167 a0001c0010t0001g0201 a0001c0012t0001g0194 a0002c0003t0001g0003 a0002c0006t0001g0111 a0002c0006t0001g0122	13	94	0.1383	26	c.46 others(37): Show c.4631_*4632insTGTGTGTGTGTGTGTGTGTGTGTGTG	CD99	ENSG00000002586.20	transcript	ENST00000381192.10	protein_coding		4127		chrX	TogoVar
CDADC1_chr13_49242925_49298485	49293883	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01258.hp1 HG02735.hp1 HG03195.hp1 others(9): Show HG01258.hp1 HG02735.hp1 HG03195.hp1 HG03492.hp2 HG03516.hp2 HG03704.hp2 HG03927.hp2 HG03942.hp1 NA18949.hp2 NA18974.hp1 NA19030.hp1 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0002c0005t0002	a0001c0001t0002g0006 a0001c0001t0002g0222 a0001c0001t0002g0226 others(9): Show a0001c0001t0002g0006 a0001c0001t0002g0222 a0001c0001t0002g0226 a0001c0001t0002g0232 a0001c0001t0002g0259 a0001c0001t0003g0003 a0001c0001t0003g0251 a0001c0001t0005g0167 a0001c0001t0005g0176 a0001c0001t0006g0002 a0001c0001t0006g0243 a0002c0005t0002g0156	12	26	0.4615	26	c.21 others(37): Show c.2126_*2127insAAAAAAAAAAAAAAAAAAAAAAAAAA	CDADC1	ENSG00000102543.14	transcript	ENST00000251108.10	protein_coding		399		chr13	TogoVar
CDC14A_chr1_100347506_100525277	100412696	T T	TTTTATAT others(19): Show TTTTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01192.hp1 HG02886.hp2 HG01081.hp2 HG01192.hp1 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0011 a0001c0002t0001 a0001c0001t0011 a0001c0002t0001	a0001c0001t0011g0071 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0001t0011g0071 a0001c0002t0001g0061 a0001c0002t0001g0062	3	184	0.0163	26	c.310 others(45): Show c.310-11525_310-11524insTTATATATATATATATATATATATAT	CDC14A	ENSG00000079335.20	transcript	ENST00000336454.5	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
CDC14A_chr1_100347506_100525277	100420063	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02523.hp1 HG02132.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0221 a0001c0001t0002g0264 a0001c0001t0001g0221 a0001c0001t0002g0264	2	13	0.1538	26	c.310 others(43): Show c.310-4140_310-4139insTATATATATATATATATATATATATA	CDC14A	ENSG00000079335.20	transcript	ENST00000336454.5	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
CDC14A_chr1_100347506_100525277	100459086	A A	AACACACA others(19): Show AACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18955.hp2 NA18906.hp2 NA18955.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0004 a0001c0002t0001 a0001c0003t0004	a0001c0002t0001g0063 a0001c0003t0004g0278 a0001c0002t0001g0063 a0001c0003t0004g0278	2	221	0.0090	26	c.608 others(43): Show c.608-3551_608-3550insACACACACACACACACACACACACAC	CDC14A	ENSG00000079335.20	transcript	ENST00000336454.5	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
CDC14B_chr9_96495113_96624843	96551111	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03710.hp1 NA19240.hp2 HG03710.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0214 a0001c0001t0001g0160 a0001c0001t0001g0214	2	36	0.0556	26	c.497 others(41): Show c.497+684_497+685insAAAAAAAAAAAAAAAAAAAAAAAAAA	CDC14B	ENSG00000081377.17	transcript	ENST00000375241.6	protein_coding	5/13			chr9	TogoVar
CDC27_chr17_47112703_47194295	47144871	T T	TCACACAC others(19): Show TCACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG01168.hp2 others(1): Show HG00099.hp2 HG00323.hp1 HG01168.hp2 HG01169.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0004 a0001c0003t0006g0081 a0001c0003t0006g0083 a0001c0003t0006g0004 a0001c0003t0006g0081 a0001c0003t0006g0083	4	204	0.0196	26	c.107 others(43): Show c.1071-890_1071-889insTGTGTGTGTGTGTGTGTGTGTGTGTG	CDC27	ENSG00000004897.12	transcript	ENST00000066544.8	protein_coding	9/18			chr17	TogoVar
CDC37L1_chr9_4674569_4713399	4682329	A A	ATTTTTTT others(19): Show ATTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp1 NA18906.hp2 HG02717.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0131 a0001c0001t0007g0132 a0001c0001t0007g0131 a0001c0001t0007g0132	2	174	0.0115	26	c.132 others(43): Show c.132+2445_132+2446insTTTTTTTTTTTTTTTTTTTTTTTTTT	CDC37L1	ENSG00000106993.12	transcript	ENST00000381854.4	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr9	TogoVar
CDC42BPA_chr1_226984865_227323492	227042297	G G	GAGATATA others(19): Show GAGATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02809.hp1 HG03041.hp2 HG02109.hp1 HG02809.hp1 HG03041.hp2	a0001 a0006 a0001 a0006	a0001c0006 a0006c0014 a0001c0006 a0006c0014	a0001c0006t0011 a0006c0014t0011 a0001c0006t0011 a0006c0014t0011	a0001c0006t0011g0323 a0001c0006t0011g0329 a0006c0014t0011g0332 a0001c0006t0011g0323 a0001c0006t0011g0329 a0006c0014t0011g0332	3	58	0.0517	26	c.309 others(45): Show c.3094-2062_3094-2061insATATATATATATATATATATATATCT	CDC42BPA	ENSG00000143776.20	transcript	ENST00000366766.8	protein_coding	23/36			chr1	TogoVar
CDC42BPA_chr1_226984865_227323492	227100747	A A	AGTGTGTG others(19): Show AGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02630.hp1 HG02647.hp1 HG02145.hp1 HG02630.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0055 a0001c0001t0001 a0001c0001t0055	a0001c0001t0001g0142 a0001c0001t0001g0158 a0001c0001t0055g0227 a0001c0001t0001g0142 a0001c0001t0001g0158 a0001c0001t0055g0227	3	136	0.0221	26	c.224 others(43): Show c.2249+219_2249+244dupACACACACACACACACACACACACAC	CDC42BPA	ENSG00000143776.20	transcript	ENST00000366766.8	protein_coding	15/36			chr1	TogoVar
CDC42BPA_chr1_226984865_227323492	227129666	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0300 a0002c0002t0002g0300	1	55	0.0182	26	c.139 others(43): Show c.1391-461_1391-436dupTTTTTTTTTTTTTTTTTTTTTTTTTT	CDC42BPA	ENSG00000143776.20	transcript	ENST00000366766.8	protein_coding	10/36			chr1	TogoVar
CDC42BPA_chr1_226984865_227323492	227129702	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp2 HG02896.hp2 others(1): Show HG02109.hp1 HG02109.hp2 HG02896.hp2 HG03130.hp1	a0001 a0006 a0001 a0006	a0001c0006 a0001c0008 a0006c0014 a0001c0006 a0001c0008 a0006c0014	a0001c0006t0011 a0001c0008t0008 a0006c0014t0011 a0001c0006t0011 a0001c0008t0008 a0006c0014t0011	a0001c0006t0011g0327 a0001c0008t0008g0084 a0006c0014t0011g0324 others(1): Show a0001c0006t0011g0327 a0001c0008t0008g0084 a0006c0014t0011g0324 a0006c0014t0011g0332	4	334	0.0120	26	c.139 others(43): Show c.1391-472_1391-471insATATATATATATATATATATATATAT	CDC42BPA	ENSG00000143776.20	transcript	ENST00000366766.8	protein_coding	10/36			chr1	TogoVar
CDC42BPA_chr1_226984865_227323492	227129714	T T	TATATATA others(19): Show TATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03654.hp2 HG03942.hp1 others(1): Show HG02818.hp1 HG03654.hp2 HG03942.hp1 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0006 a0001c0008 a0002c0002 a0001c0006 a0001c0008 a0002c0002	a0001c0006t0007 a0001c0006t0026 a0001c0008t0008 others(1): Show a0001c0006t0007 a0001c0006t0026 a0001c0008t0008 a0002c0002t0020	a0001c0006t0007g0345 a0001c0006t0026g0346 a0001c0008t0008g0081 others(1): Show a0001c0006t0007g0345 a0001c0006t0026g0346 a0001c0008t0008g0081 a0002c0002t0020g0234	4	267	0.0150	26	c.139 others(43): Show c.1391-484_1391-483insGTATATATATATATATATATATATAT	CDC42BPA	ENSG00000143776.20	transcript	ENST00000366766.8	protein_coding	10/36			chr1	TogoVar
CDC42EP4_chr17_73278624_73317001	73297001	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAAAAAAAAAACAC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0070 a0001c0001t0003g0070	1	99	0.0101	26	c.-11 others(47): Show c.-112-10390_-112-10389insGTGTTTTTTTTTTTTTTTTTTTTT TT	CDC42EP4	ENSG00000179604.10	transcript	ENST00000335793.4	protein_coding	1/1			chr17	TogoVar
CDC42EP5_chr19_54460026_54478296	54474367	C C	CTATATAT others(19): Show CTATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG02615.hp1 HG02622.hp2 others(3): Show HG02559.hp2 HG02615.hp1 HG02622.hp2 HG02717.hp1 NA19064.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0029 a0001c0001t0001g0052 others(2): Show a0001c0001t0001g0015 a0001c0001t0001g0029 a0001c0001t0001g0052 a0001c0001t0001g0066 a0001c0001t0001g0185	6	146	0.0411	26	c.-14 others(37): Show c.-1446_-1445insTATATATATATATATATATATATATA	CDC42EP5	ENSG00000167617.3	transcript	ENST00000301200.3	protein_coding		1072		chr19	TogoVar
CDC5L_chr6_44382706_44455425	44411637	A A	AGAGAGAG others(19): Show AGAGAGAGAGAGAGAGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0321 a0001c0002t0011g0321	1	5	0.2000	26	c.109 others(45): Show c.1092+3006_1092+3007insAGAGAGAGAGAGAGTGTGTGTGTGTG	CDC5L	ENSG00000096401.8	transcript	ENST00000371477.4	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDC5L_chr6_44382706_44455425	44411637	A A	AGAGTGTG others(19): Show AGAGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0177 a0001c0001t0006g0177	1	5	0.2000	26	c.109 others(45): Show c.1092+3006_1092+3007insAGTGTGTGTGTGTGTGTGTGTGTGTG	CDC5L	ENSG00000096401.8	transcript	ENST00000371477.4	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDC5L_chr6_44382706_44455425	44450808	A A	AACTGTCC others(19): Show AACTGTCCTTTGAGTTCAAATATGTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	350	0.0029	26	c.40 others(37): Show c.4097_*4098insACTGTCCTTTGAGTTCAAATATGTTC	CDC5L	ENSG00000096401.8	transcript	ENST00000371477.4	protein_coding		384		chr6	TogoVar
CDC73_chr1_193117031_193259815	193161730	A A	ATATATAA others(19): Show ATATATAATATATATCATATTATATTG	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01243.hp1 others(7): Show HG01069.hp1 HG01071.hp2 HG01243.hp1 HG01517.hp2 HG02735.hp2 NA18955.hp1 NA18992.hp1 NA19005.hp1 NA19070.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0019 a0001c0001t0001 a0001c0001t0003 a0001c0001t0019	a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0035 others(7): Show a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0003g0097 a0001c0001t0019g0099	10	225	0.0444	26	c.972 others(43): Show c.972+9644_972+9669dupTATATTGTATATAATATATATCATAT	CDC73	ENSG00000134371.14	transcript	ENST00000367435.5	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
CDC73_chr1_193117031_193259815	193162109	C C	CATATTAT others(19): Show CATATTATATTGTATATAATATATATT	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	41	0.0244	26	c.972 others(43): Show c.972+9669_972+9670insTATATTGTATATAATATATATTATAT	CDC73	ENSG00000134371.14	transcript	ENST00000367435.5	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
CDCP2_chr1_54127687_54158000	54137663	A A	ATGTGTGT others(19): Show ATGTGTGTGTGTGTGTGTGTGTGTGCG	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	260	0.0038	26	c.111 others(43): Show c.1118-856_1118-855insCGCACACACACACACACACACACACA	CDCP2	ENSG00000157211.12	transcript	ENST00000530059.3	protein_coding	4/5			chr1	TogoVar
CDCP2_chr1_54127687_54158000	54137692	T T	TGTGTGTG others(19): Show TGTGTGTGTGTGTGTGTGTGCGCGCGC	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02602.hp1 HG03490.hp1 others(3): Show HG02040.hp1 HG02602.hp1 HG03490.hp1 HG03492.hp1 NA18944.hp2 NA18963.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0025 a0001c0001t0001g0069 a0001c0001t0001g0216 others(2): Show a0001c0001t0001g0025 a0001c0001t0001g0069 a0001c0001t0001g0216 a0002c0002t0001g0191 a0002c0002t0001g0240	6	59	0.1017	26	c.111 others(43): Show c.1118-885_1118-884insGCGCGCGCACACACACACACACACAC	CDCP2	ENSG00000157211.12	transcript	ENST00000530059.3	protein_coding	4/5			chr1	TogoVar
CDH12_chr5_21745673_22858344	21880616	C C	CTTCCTTC others(19): Show CTTCCTTCCTTCTTCTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0028 a0001c0001t0002g0028	1	28	0.0357	26	c.527 others(45): Show c.527-25827_527-25826insAGAAAGAAAGAAGAAGAAGGAAGGAA	CDH12	ENSG00000154162.15	transcript	ENST00000382254.6	protein_coding	6/14			chr5	TogoVar
CDH12_chr5_21745673_22858344	22138845	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0016 a0002c0004t0003g0016	1	15	0.0667	26	c.-18 others(47): Show c.-186-60009_-186-59984dupATATATATATATATATATATATAT AT	CDH12	ENSG00000154162.15	transcript	ENST00000382254.6	protein_coding	4/14			chr5	TogoVar
CDH12_chr5_21745673_22858344	22343321	C C	CAGACACA others(19): Show CAGACACACACACAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0054 a0003c0005t0001g0054	1	55	0.0182	26	c.-33 others(47): Show c.-333+61935_-333+61936insCTCTCTCTCTCTCTGTGTGTGTGT CT	CDH12	ENSG00000154162.15	transcript	ENST00000382254.6	protein_coding	3/14			chr5	TogoVar
CDH12_chr5_21745673_22858344	22456107	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0001 a0005c0009t0001	a0005c0009t0001g0006 a0005c0009t0001g0006	1	5	0.2000	26	c.-42 others(47): Show c.-428+49137_-428+49162dupTATATATATATATATATATATATA TA	CDH12	ENSG00000154162.15	transcript	ENST00000382254.6	protein_coding	2/14			chr5	TogoVar
CDH12_chr5_21745673_22858344	22489056	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03195.hp2 HG03579.hp2 HG02886.hp1 HG03195.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0016 a0001c0001t0001 a0001c0002t0016	a0001c0001t0001g0027 a0001c0001t0001g0047 a0001c0002t0016g0032 a0001c0001t0001g0027 a0001c0001t0001g0047 a0001c0002t0016g0032	3	6	0.5000	26	c.-42 others(47): Show c.-428+16213_-428+16214insAAAAAAAAAAAAAAAAAAAAAAAA AA	CDH12	ENSG00000154162.15	transcript	ENST00000382254.6	protein_coding	2/14			chr5	TogoVar
CDH12_chr5_21745673_22858344	22532350	G G	GATATATA others(19): Show GATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02258.hp2 NA21309.hp1 HG00639.hp1 HG02258.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0004 a0002c0003t0001 a0001c0001t0001 a0001c0002t0004 a0002c0003t0001	a0001c0001t0001g0043 a0001c0002t0004g0040 a0002c0003t0001g0026 a0001c0001t0001g0043 a0001c0002t0004g0040 a0002c0003t0001g0026	3	18	0.1667	26	c.-52 others(47): Show c.-522-27012_-522-26987dupATATATATATATATATATATATAT AT	CDH12	ENSG00000154162.15	transcript	ENST00000382254.6	protein_coding	1/14			chr5	TogoVar

Search by Variant

Search

Search Results