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
CARF_chr2_202907275_202993263	202986868	G G	GTATATAT others(9): Show GTATATATATATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0320 a0002c0002t0001g0320	1	221	0.0045	16	c.32 others(27): Show c.3269_*3284dupTATATATATATATATA	CARF	ENSG00000138380.18	transcript	ENST00000438828.4	protein_coding	17/17	3285	INFO_REALIGN_3_PRIME	chr2	TogoVar
CARF_chr2_202907275_202993263	202986871	T T	TATATATA others(9): Show TATATATATATATATAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0076 a0001c0005t0076	a0001c0005t0076g0047 a0001c0005t0076g0047	1	331	0.0030	16	c.32 others(27): Show c.3262_*3263insCATATATATATATATA	CARF	ENSG00000138380.18	transcript	ENST00000438828.4	protein_coding	17/17	3263	INFO_REALIGN_3_PRIME	chr2	TogoVar
CARHSP1_chr16_8847947_8874006	8851977	C C	CCTTTTTT others(9): Show CCTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0188 a0001c0002t0002g0188	1	76	0.0132	16	c.31 others(27): Show c.3186_*3187insAAAAAAAAAAAAAAAG	CARHSP1	ENSG00000153048.11	transcript	ENST00000311052.10	protein_coding		969		chr16	TogoVar
CARHSP1_chr16_8847947_8874006	8851977	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG01069.hp1 HG01168.hp1 others(7): Show HG00140.hp2 HG01069.hp1 HG01168.hp1 HG01169.hp1 HG02015.hp2 NA18961.hp1 NA18966.hp2 NA18989.hp2 NA19007.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0002t0035 a0001c0001t0002 a0001c0002t0002 a0001c0002t0035	a0001c0001t0002g0136 a0001c0002t0002g0009 a0001c0002t0002g0120 others(7): Show a0001c0001t0002g0136 a0001c0002t0002g0009 a0001c0002t0002g0120 a0001c0002t0002g0140 a0001c0002t0002g0150 a0001c0002t0002g0234 a0001c0002t0002g0238 a0001c0002t0002g0408 a0001c0002t0002g0434 a0001c0002t0035g0176	10	85	0.1176	16	c.31 others(27): Show c.3171_*3186dupAAAAAAAAAAAAAAAA	CARHSP1	ENSG00000153048.11	transcript	ENST00000311052.10	protein_coding		969		chr16	TogoVar
CARHSP1_chr16_8847947_8874006	8857263	G G	GTTTTTTG others(9): Show GTTTTTTGTTTTTTGTT	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18999.hp2 NA18943.hp1 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0159 a0001c0002t0002g0228 a0001c0001t0002g0159 a0001c0002t0002g0228	2	113	0.0177	16	c.281 others(33): Show c.281+1086_281+1087insAACAAAAAACAAAAAA	CARHSP1	ENSG00000153048.11	transcript	ENST00000311052.10	protein_coding	3/3			chr16	TogoVar
CARHSP1_chr16_8847947_8874006	8857263	G G	GTTTTTTT others(9): Show GTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02135.hp1 NA18941.hp1 others(1): Show HG02015.hp1 HG02135.hp1 NA18941.hp1 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0003 a0001c0001t0003 a0001c0002t0003	a0001c0001t0003g0063 a0001c0001t0003g0211 a0001c0001t0003g0421 others(1): Show a0001c0001t0003g0063 a0001c0001t0003g0211 a0001c0001t0003g0421 a0001c0002t0003g0245	4	115	0.0348	16	c.281 others(33): Show c.281+1071_281+1086dupAAAAAAAAAAAAAAAA	CARHSP1	ENSG00000153048.11	transcript	ENST00000311052.10	protein_coding	3/3			chr16	TogoVar
CARHSP1_chr16_8847947_8874006	8861989	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18972.hp2 NA19011.hp2 others(2): Show NA18612.hp1 NA18972.hp2 NA19011.hp2 NA19064.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0111 a0001c0001t0001g0258 others(1): Show a0001c0001t0001g0016 a0001c0001t0001g0111 a0001c0001t0001g0258 a0001c0001t0001g0396	5	104	0.0481	16	c.-7- others(31): Show c.-7-2670_-7-2655dupAAAAAAAAAAAAAAAA	CARHSP1	ENSG00000153048.11	transcript	ENST00000311052.10	protein_coding	1/3			chr16	TogoVar
CARMIL1_chr6_25274374_25625530	25281136	G G	GCGCGCGC others(9): Show GCGCGCGCACACACACA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02148.hp2 HG04184.hp1 HG01433.hp2 HG02148.hp2 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0003 a0001c0001t0001 a0001c0006t0003	a0001c0001t0001g0104 a0001c0001t0001g0110 a0001c0006t0003g0094 a0001c0001t0001g0104 a0001c0001t0001g0110 a0001c0006t0003g0094	3	49	0.0612	16	c.40+ others(31): Show c.40+1302_40+1303insGCGCGCACACACACAC	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25296924	T T	TCTATCTA others(9): Show TCTATCTATCTATCTAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01255.hp1 HG00140.hp2 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0002 a0001c0001t0001 a0001c0006t0002	a0001c0001t0001g0095 a0001c0006t0002g0100 a0001c0001t0001g0095 a0001c0006t0002g0100	2	183	0.0109	16	c.138 others(35): Show c.138+12025_138+12026insATCTAACTATCTATCT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	2/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25296934	T T	TATCTATC others(9): Show TATCTATCTTTAACTAA	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0148 a0001c0003t0009g0148	1	158	0.0063	16	c.138 others(35): Show c.138+12025_138+12026insATCTATCTTTAACTAA	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	2/36			chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25332742	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0119 a0001c0003t0004g0119	1	88	0.0114	16	c.138 others(35): Show c.138+47848_138+47863dupACACACACACACACAC	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	2/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25332769	A A	ACACACAC others(9): Show ACACACACACACACACG	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0014 a0001c0006t0014	a0001c0006t0014g0154 a0001c0006t0014g0154	1	171	0.0058	16	c.138 others(35): Show c.138+47863_138+47864insACACACACACACGCAC	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	2/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25441320	C C	CATATATA others(9): Show CATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0081 a0001c0006t0003g0081	1	165	0.0061	16	c.371 others(33): Show c.371+5719_371+5734dupATATATATATATATAT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	5/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25441335	A A	ATGTGTGT others(9): Show ATGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02738.hp2 HG01192.hp1 HG02738.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0005 a0001c0003 a0002c0005	a0001c0003t0008 a0002c0005t0013 a0001c0003t0008 a0002c0005t0013	a0001c0003t0008g0022 a0002c0005t0013g0113 a0001c0003t0008g0022 a0002c0005t0013g0113	2	150	0.0133	16	c.371 others(33): Show c.371+5732_371+5733insGTGTGTGTGTGTGTGT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	5/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25441337	A A	ATATATAT others(9): Show ATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00738.hp2 HG03209.hp1 HG00642.hp2 HG00738.hp2 HG03209.hp1	a0002 a0002	a0002c0007 a0002c0014 a0002c0007 a0002c0014	a0002c0007t0020 a0002c0014t0003 a0002c0007t0020 a0002c0014t0003	a0002c0007t0020g0181 a0002c0014t0003g0098 a0002c0014t0003g0103 a0002c0007t0020g0181 a0002c0014t0003g0098 a0002c0014t0003g0103	3	26	0.1154	16	c.371 others(33): Show c.371+5734_371+5735insATATATATATATATGT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	5/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25441337	A A	ATATATAT others(9): Show ATATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02818.hp2 HG02896.hp1 HG01106.hp2 HG02818.hp2 HG02896.hp1	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0006 a0002c0005 a0009c0020 a0001c0006 a0002c0005 a0009c0020	a0001c0006t0002 a0002c0005t0003 a0009c0020t0015 a0001c0006t0002 a0002c0005t0003 a0009c0020t0015	a0001c0006t0002g0021 a0002c0005t0003g0127 a0009c0020t0015g0160 a0001c0006t0002g0021 a0002c0005t0003g0127 a0009c0020t0015g0160	3	26	0.1154	16	c.371 others(33): Show c.371+5734_371+5735insATATATATATATGTGT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	5/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25441337	A A	ATATATAT others(9): Show ATATATATGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0052 a0001c0003t0002g0052	1	24	0.0417	16	c.371 others(33): Show c.371+5734_371+5735insATATATGTGTGTGTGT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	5/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25441337	A A	ATATATGT others(9): Show ATATATGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0005 a0003c0010t0005	a0003c0010t0005g0137 a0003c0010t0005g0137	1	24	0.0417	16	c.371 others(33): Show c.371+5734_371+5735insATATGTGTGTGTGTGT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	5/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25441337	A A	ATATGTGT others(9): Show ATATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02630.hp1 HG02258.hp1 HG02630.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0025 a0001c0002t0001g0049 a0001c0002t0001g0025 a0001c0002t0001g0049	2	25	0.0800	16	c.371 others(33): Show c.371+5734_371+5735insATGTGTGTGTGTGTGT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	5/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25441337	A A	ATGTGTGT others(9): Show ATGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00544.hp2 NA19011.hp1 HG00544.hp2 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0091 a0001c0001t0003g0029 a0001c0001t0001g0091 a0001c0001t0003g0029	2	25	0.0800	16	c.371 others(33): Show c.371+5753_371+5768dupGTGTGTGTGTGTGTGT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	5/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25441353	G G	GTGTGTGT others(9): Show GTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02970.hp1 HG02922.hp1 HG02970.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0030 a0001c0001 a0005c0030	a0001c0001t0008 a0005c0030t0005 a0001c0001t0008 a0005c0030t0005	a0001c0001t0008g0133 a0005c0030t0005g0159 a0001c0001t0008g0133 a0005c0030t0005g0159	2	182	0.0110	16	c.371 others(33): Show c.371+5764_371+5765insATGTGTGTGTGTGTGT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	5/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25459210	T T	TTTTCTTT others(9): Show TTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02257.hp2 HG02723.hp2 others(4): Show HG01952.hp1 HG02257.hp2 HG02723.hp2 HG03195.hp1 NA18983.hp1 NA18993.hp2 NA19072.hp2	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0011	a0001c0001 a0001c0003 a0001c0008 others(3): Show a0001c0001 a0001c0003 a0001c0008 a0002c0005 a0006c0016 a0011c0027	a0001c0001t0010 a0001c0003t0002 a0001c0008t0001 others(4): Show a0001c0001t0010 a0001c0003t0002 a0001c0008t0001 a0002c0005t0005 a0006c0016t0001 a0006c0016t0005 a0011c0027t0002	a0001c0001t0010g0155 a0001c0003t0002g0099 a0001c0008t0001g0011 others(4): Show a0001c0001t0010g0155 a0001c0003t0002g0099 a0001c0008t0001g0011 a0002c0005t0005g0158 a0006c0016t0001g0045 a0006c0016t0005g0165 a0011c0027t0002g0068	7	130	0.0538	16	c.615 others(33): Show c.615-6619_615-6604dupCTTTCTTTCTTTCTTT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	8/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25529755	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0044 a0001c0002t0011g0044	1	99	0.0101	16	c.206 others(33): Show c.2067+877_2067+892dupAAAAAAAAAAAAAAAA	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	24/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARNS1_chr11_67410678_67430604	67424861	C C	CCACACAC others(9): Show CCACACACACACACACA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02165.hp2 HG03195.hp2 HG03579.hp1 others(7): Show HG02165.hp2 HG03195.hp2 HG03579.hp1 NA18963.hp2 NA18984.hp1 NA19043.hp2 NA19065.hp2 NA19082.hp1 NA19084.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0001c0004 a0002c0002 a0001c0003 a0001c0004 a0002c0002	a0001c0003t0016 a0001c0003t0037 a0001c0004t0018 others(1): Show a0001c0003t0016 a0001c0003t0037 a0001c0004t0018 a0002c0002t0019	a0001c0003t0016g0003 a0001c0003t0016g0019 a0001c0003t0037g0019 others(4): Show a0001c0003t0016g0003 a0001c0003t0016g0019 a0001c0003t0037g0019 a0001c0004t0018g0021 a0001c0004t0018g0025 a0002c0002t0019g0004 a0002c0002t0019g0005	10	152	0.0658	16	c.27 others(25): Show c.276_*291dupACACACACACACACAC	CARNS1	ENSG00000172508.11	transcript	ENST00000687366.1	protein_coding	10/10	292	INFO_REALIGN_3_PRIME	chr11	TogoVar
CARS1_chr11_2995929_3062423	3031996	T T	TTCCTTCC others(9): Show TTCCTTCCTTCCCTCCC	intron_variant intron_variant	MODIFIER	HG03704.hp2 NA18522.hp2 HG03704.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0228 a0001c0001t0001g0187 a0001c0001t0001g0228	2	269	0.0074	16	c.802 others(33): Show c.802-2554_802-2553insGGGAGGGAAGGAAGGA	CARS1	ENSG00000110619.18	transcript	ENST00000380525.9	protein_coding	7/22			chr11	TogoVar
CARS2_chr13_110636417_110711116	110654926	A A	AAAAAAAA others(9): Show AAAAAAAAAAGAAAAAG	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0076 a0001c0001t0002g0076	1	369	0.0027	16	c.988 others(33): Show c.988-3842_988-3827dupCTTTTTCTTTTTTTTT	CARS2	ENSG00000134905.17	transcript	ENST00000257347.9	protein_coding	9/14			chr13	TogoVar
CARS2_chr13_110636417_110711116	110679650	C C	CGGAGGGA others(9): Show CGGAGGGAGGGAGGGAG	intron_variant intron_variant	MODIFIER	HG02257.hp2 NA18964.hp2 HG02257.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0001 a0001c0001t0002 a0001c0003t0001	a0001c0001t0002g0150 a0001c0003t0001g0297 a0001c0001t0002g0150 a0001c0003t0001g0297	2	134	0.0149	16	c.656 others(33): Show c.656-2563_656-2548dupCTCCCTCCCTCCCTCC	CARS2	ENSG00000134905.17	transcript	ENST00000257347.9	protein_coding	6/14			chr13	TogoVar
CASC3_chr17_40135537_40177171	40140317	A A	AACACACA others(9): Show AACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG02055.hp1 HG03130.hp1 others(3): Show HG00735.hp2 HG02055.hp1 HG03130.hp1 HG03209.hp2 NA19087.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0109 a0001c0001t0001g0165 others(3): Show a0001c0001t0001g0087 a0001c0001t0001g0109 a0001c0001t0001g0165 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0211	6	132	0.0455	16	c.-23 others(25): Show c.-232_-231insACACACACACACACAC	CASC3	ENSG00000108349.17	transcript	ENST00000264645.12	protein_coding		219		chr17	TogoVar
CASC3_chr17_40135537_40177171	40140355	C C	CACACACA others(9): Show CACACACACACACCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	261	0.0038	16	c.-19 others(25): Show c.-194_-193insACACACACACACCCCA	CASC3	ENSG00000108349.17	transcript	ENST00000264645.12	protein_coding		181		chr17	TogoVar
CASC3_chr17_40135537_40177171	40140373	A A	AACACACA others(9): Show AACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 NA19060.hp1 HG01891.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0159 a0001c0001t0001g0111 a0001c0001t0001g0159	2	95	0.0211	16	c.-17 others(25): Show c.-176_-175insACACACACACACACAC	CASC3	ENSG00000108349.17	transcript	ENST00000264645.12	protein_coding		163		chr17	TogoVar
CASC3_chr17_40135537_40177171	40140375	C C	CACACACA others(9): Show CACACACACACACCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	261	0.0038	16	c.-17 others(25): Show c.-174_-173insACACACACACACCCCA	CASC3	ENSG00000108349.17	transcript	ENST00000264645.12	protein_coding		161		chr17	TogoVar
CASC3_chr17_40135537_40177171	40140377	C C	CACACACA others(9): Show CACACACACACACCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG01891.hp2 HG02132.hp1 others(4): Show HG00099.hp2 HG01891.hp2 HG02132.hp1 HG03492.hp1 NA18944.hp1 NA18966.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0082 others(4): Show a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0208 a0001c0004t0001g0002	7	262	0.0267	16	c.-17 others(25): Show c.-172_-171insACACACACACACCCCA	CASC3	ENSG00000108349.17	transcript	ENST00000264645.12	protein_coding		159		chr17	TogoVar
CASC3_chr17_40135537_40177171	40172969	T T	TTGTGTGT others(9): Show TTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG03130.hp2 HG02723.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	2	128	0.0156	16	c.25 others(27): Show c.2564_*2565insTGTGTGTGTGTGTGTG	CASC3	ENSG00000108349.17	transcript	ENST00000264645.12	protein_coding		799		chr17	TogoVar
CASD1_chr7_94504809_94562019	94553786	T T	TTAAATAA others(9): Show TTAAATAAATAAATAAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01257.hp2 HG02056.hp1 others(3): Show HG00639.hp2 HG01257.hp2 HG02056.hp1 HG02615.hp2 HG03209.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0028 a0001c0001t0001g0083 a0001c0001t0001g0110 others(2): Show a0001c0001t0001g0028 a0001c0001t0001g0083 a0001c0001t0001g0110 a0001c0001t0006g0219 a0001c0001t0006g0220	6	202	0.0297	16	c.203 others(33): Show c.2035-680_2035-665dupTAAATAAATAAATAAA	CASD1	ENSG00000127995.17	transcript	ENST00000297273.9	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
CASD1_chr7_94504809_94562019	94559308	G G	GTGTGTGT others(9): Show GTGTGTGTGTGTGTGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18948.hp2 NA18957.hp2 NA18962.hp2 others(5): Show NA18948.hp2 NA18957.hp2 NA18962.hp2 NA18987.hp2 NA19010.hp1 NA19056.hp1 NA19078.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0094 a0001c0001t0001g0103 others(2): Show a0001c0001t0001g0004 a0001c0001t0001g0094 a0001c0001t0001g0103 a0001c0001t0001g0123 a0001c0001t0001g0153	8	306	0.0261	16	c.35 others(27): Show c.3550_*3551insTGTGTGTGTGTGTGTA	CASD1	ENSG00000127995.17	transcript	ENST00000297273.9	protein_coding		2290		chr7	TogoVar
CASK_chrX_41509934_41928554	41710081	T T	TTGTGTGT others(9): Show TTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0095 a0001c0001t0004g0095	1	40	0.0250	16	c.429 others(35): Show c.429+29287_429+29302dupCACACACACACACACA	CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	5/26			chrX	TogoVar
CASK_chrX_41509934_41928554	41770313	T T	TACCTACC others(9): Show TACCTACCTATCCATCC	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0003 a0001c0001t0020g0003	1	135	0.0074	16	c.278 others(35): Show c.278+16864_278+16865insGGATGGATAGGTAGGT	CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	3/26			chrX	TogoVar
CASK_chrX_41509934_41928554	41818145	C C	CTGTGTGT others(9): Show CTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0003 a0001c0001t0020g0003	1	70	0.0143	16	c.173 others(35): Show c.173-30878_173-30863dupCACACACACACACACA	CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	2/26			chrX	TogoVar
CASK_chrX_41509934_41928554	41829696	G G	GATATATA others(9): Show GATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02922.hp2 HG00673.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0083 a0001c0001t0003g0141 a0001c0001t0001g0083 a0001c0001t0003g0141	2	29	0.0690	16	c.172 others(35): Show c.172+23403_172+23418dupATATATATATATATAT	CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	2/26			chrX	TogoVar
CASK_chrX_41509934_41928554	41869812	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01952.hp1 HG02683.hp2 others(5): Show HG01934.hp1 HG01952.hp1 HG02683.hp2 HG03654.hp1 HG04199.hp1 NA19007.hp1 NA19074.hp2 NA19089.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0002t0003 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0003 a0002c0003t0001	a0001c0001t0001g0117 a0001c0001t0001g0122 a0001c0001t0001g0127 others(5): Show a0001c0001t0001g0117 a0001c0001t0001g0122 a0001c0001t0001g0127 a0001c0001t0001g0135 a0001c0001t0001g0157 a0001c0001t0003g0072 a0001c0002t0003g0121 a0002c0003t0001g0123	8	69	0.1159	16	c.60- others(33): Show c.60-16601_60-16586dupTTTTTTTTTTTTTTTT	CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	1/26			chrX	TogoVar
CASP2_chr7_143283351_143312696	143291780	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02895.hp1 HG02897.hp1 others(3): Show HG02572.hp2 HG02895.hp1 HG02897.hp1 HG03041.hp2 HG03453.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0031 a0001c0001t0001 a0001c0001t0003 a0001c0001t0031	a0001c0001t0001g0045 a0001c0001t0003g0022 a0001c0001t0003g0075 others(2): Show a0001c0001t0001g0045 a0001c0001t0003g0022 a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0031g0046	6	36	0.1667	16	c.225 others(30): Show c.225+95_225+110dupTTTTTTTTTTTTTTTT	CASP2	ENSG00000106144.20	transcript	ENST00000310447.10	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
CASP3_chr4_184622696_184654447	184631542	T T	TAAAAAAA others(9): Show TAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 NA18945.hp1 NA18945.hp2 others(4): Show HG00280.hp2 NA18945.hp1 NA18945.hp2 NA18951.hp1 NA18965.hp1 NA19010.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0026 a0001c0001t0002g0047 a0001c0001t0002g0186 others(1): Show a0001c0001t0002g0026 a0001c0001t0002g0047 a0001c0001t0002g0186 a0001c0001t0002g0212	7	45	0.1556	16	c.483 others(31): Show c.483+207_483+222dupTTTTTTTTTTTTTTTT	CASP3	ENSG00000164305.20	transcript	ENST00000308394.9	protein_coding	6/7			chr4	TogoVar
CASP3_chr4_184622696_184654447	184651290	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0055 a0001c0001t0004g0055	1	355	0.0028	16	c.-20 others(27): Show c.-2079_-2078insTTTTTTTTTTTTTTTT	CASP3	ENSG00000164305.20	transcript	ENST00000308394.9	protein_coding		1844		chr4	TogoVar
CASP3_chr4_184622696_184654447	184652976	G G	GAGGGAGG others(9): Show GAGGGAGGAAGGAAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02723.hp1 HG02809.hp1 others(6): Show HG02280.hp2 HG02723.hp1 HG02809.hp1 HG02970.hp1 HG03130.hp1 HG03139.hp1 HG03453.hp1 NA18906.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0013 a0001c0001t0001 a0001c0001t0004 a0001c0001t0013	a0001c0001t0001g0083 a0001c0001t0004g0030 a0001c0001t0004g0054 others(5): Show a0001c0001t0001g0083 a0001c0001t0004g0030 a0001c0001t0004g0054 a0001c0001t0004g0055 a0001c0001t0004g0084 a0001c0001t0004g0086 a0001c0001t0004g0095 a0001c0001t0013g0223	9	364	0.0247	16	c.-37 others(27): Show c.-3780_-3765dupTCCTTCCTTCCTCCCT	CASP3	ENSG00000164305.20	transcript	ENST00000308394.9	protein_coding		3530		chr4	TogoVar
CASP4_chr11_104937866_104973574	104950797	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	10	0.1000	16	c.546 others(31): Show c.546+112_546+127dupGTGTGTGTGTGTGTGT	CASP4	ENSG00000196954.14	transcript	ENST00000444739.7	protein_coding	4/8			chr11	TogoVar
CASP6_chr4_109683628_109708445	109706129	T T	TTATATAT others(9): Show TTATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 HG02818.hp2 HG02897.hp1 others(5): Show HG01081.hp1 HG02818.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp2 HG03492.hp2 NA18906.hp2 NA19084.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0002t0006 a0002c0003t0003	a0001c0001t0001g0105 a0001c0001t0001g0122 a0001c0001t0003g0022 others(4): Show a0001c0001t0001g0105 a0001c0001t0001g0122 a0001c0001t0003g0022 a0001c0001t0007g0195 a0001c0002t0006g0012 a0001c0002t0006g0071 a0002c0003t0003g0011	8	236	0.0339	16	c.-27 others(27): Show c.-2735_-2734insTATATATATATATATA	CASP6	ENSG00000138794.10	transcript	ENST00000265164.7	protein_coding		2685		chr4	TogoVar
CASP6_chr4_109683628_109708445	109706131	T T	TTATATAT others(9): Show TTATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	161	0.0062	16	c.-27 others(27): Show c.-2737_-2736insTATATATATATATATA	CASP6	ENSG00000138794.10	transcript	ENST00000265164.7	protein_coding		2687		chr4	TogoVar
CASP6_chr4_109683628_109708445	109706168	T T	TATATATA others(9): Show TATATATATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0120 a0001c0001t0002g0120	1	353	0.0028	16	c.-27 others(27): Show c.-2774_-2773insGTATATATATATATAT	CASP6	ENSG00000138794.10	transcript	ENST00000265164.7	protein_coding		2724		chr4	TogoVar
CASP7_chr10_113674912_113735905	113687794	C C	CTCTTTCT others(9): Show CTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00597.hp1 HG00733.hp1 others(23): Show HG00140.hp2 HG00597.hp1 HG00733.hp1 HG00738.hp2 HG01169.hp2 HG02080.hp2 HG02165.hp2 HG02273.hp1 HG02293.hp1 HG02818.hp2 HG02976.hp2 HG03041.hp1 HG03139.hp1 HG03654.hp2 HG03831.hp2 HG03834.hp2 NA18747.hp1 NA18962.hp1 NA18965.hp1 NA18981.hp1 NA18981.hp2 NA18986.hp2 NA18990.hp1 NA18992.hp2 NA19077.hp1 NA19080.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0006	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0006c0009	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(6): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0015 a0002c0002t0001 a0003c0003t0002 a0004c0004t0001 a0006c0009t0003	a0001c0001t0002g0016 a0001c0001t0002g0319 a0001c0001t0003g0017 others(22): Show a0001c0001t0002g0016 a0001c0001t0002g0319 a0001c0001t0003g0017 a0001c0001t0003g0190 a0001c0001t0003g0192 a0001c0001t0003g0213 a0001c0001t0004g0084 a0001c0001t0004g0085 a0001c0001t0004g0086 a0001c0001t0004g0105 a0001c0001t0004g0106 a0001c0001t0005g0191 a0001c0001t0015g0016 a0002c0002t0001g0318 a0002c0002t0001g0320 a0002c0002t0001g0333 a0002c0002t0001g0354 a0003c0003t0002g0117 a0003c0003t0002g0135 a0003c0003t0002g0138 a0003c0003t0002g0148 a0003c0003t0002g0150 a0004c0004t0001g0136 a0004c0004t0001g0137 a0006c0009t0003g0201	26	297	0.0875	16	c.-1+ others(31): Show c.-1+7843_-1+7858dupTTTCTTTCTTTCTTTC	CASP7	ENSG00000165806.21	transcript	ENST00000369318.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
CASP7_chr10_113674912_113735905	113687916	T T	TTTCCTTC others(9): Show TTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0365 a0001c0001t0005g0365	1	314	0.0032	16	c.-1+ others(31): Show c.-1+7973_-1+7988dupCCTTCCTTCCTTCCTT	CASP7	ENSG00000165806.21	transcript	ENST00000369318.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar

Search by Variant

Search

Search Results