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
ITFG2_chr12_2807668_2830076	2809271	C C	CGGGAGGC others(19): Show CGGGAGGCTGAGGCAGGACAATGGCGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG03041.hp1 HG06807.hp1 others(1): Show HG02630.hp2 HG03041.hp1 HG06807.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0006 a0001c0001t0001 a0001c0002t0001 a0001c0002t0006	a0001c0001t0001g0047 a0001c0002t0001g0041 a0001c0002t0001g0074 others(1): Show a0001c0001t0001g0047 a0001c0002t0001g0041 a0001c0002t0001g0074 a0001c0002t0006g0042	4	402	0.0100	26	c.-34 others(37): Show c.-3490_-3489insGGGAGGCTGAGGCAGGACAATGGCGT	ITFG2	ENSG00000111203.13	transcript	ENST00000228799.7	protein_coding		3396		chr12	TogoVar
ITGA11_chr15_68291532_68437163	68308761	G G	GAAAAGAA others(19): Show GAAAAGAAAAGAAAAGAAAAGAAAAGA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0008 a0008	a0008c0020 a0008c0020	a0008c0020t0025 a0008c0020t0025	a0008c0020t0025g0160 a0008c0020t0025g0160	1	242	0.0041	26	c.317 others(45): Show c.3175-1066_3175-1065insTCTTTTCTTTTCTTTTCTTTTCTTTT	ITGA11	ENSG00000137809.17	transcript	ENST00000315757.9	protein_coding	26/29			chr15	TogoVar
ITGA11_chr15_68291532_68437163	68397047	A A	ATATATAA others(19): Show ATATATAATATATAATATATTATATAT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01167.hp2 HG02056.hp1 others(9): Show HG00597.hp2 HG01167.hp2 HG02056.hp1 HG02129.hp2 HG02132.hp1 HG02451.hp2 HG02559.hp2 HG02922.hp1 HG04184.hp1 NA18941.hp2 NA18953.hp2 NA18964.hp1	a0001 a0003 a0004 others(4): Show a0001 a0003 a0004 a0005 a0006 a0007 a0014	a0001c0001 a0001c0002 a0001c0005 others(8): Show a0001c0001 a0001c0002 a0001c0005 a0003c0004 a0003c0009 a0004c0011 a0004c0082 a0005c0015 a0006c0017 a0007c0006 a0014c0062	a0001c0001t0003 a0001c0002t0076 a0001c0002t0115 others(9): Show a0001c0001t0003 a0001c0002t0076 a0001c0002t0115 a0001c0005t0109 a0003c0004t0002 a0003c0009t0014 a0004c0011t0007 a0004c0082t0092 a0005c0015t0093 a0006c0017t0012 a0007c0006t0053 a0014c0062t0002	a0001c0001t0003g0066 a0001c0002t0076g0076 a0001c0002t0115g0004 others(9): Show a0001c0001t0003g0066 a0001c0002t0076g0076 a0001c0002t0115g0004 a0001c0005t0109g0127 a0003c0004t0002g0209 a0003c0009t0014g0218 a0004c0011t0007g0109 a0004c0082t0092g0027 a0005c0015t0093g0205 a0006c0017t0012g0120 a0007c0006t0053g0110 a0014c0062t0002g0091	12	242	0.0496	26	c.164 others(43): Show c.164+5870_164+5871insATATATAATATATTATATATTATATA	ITGA11	ENSG00000137809.17	transcript	ENST00000315757.9	protein_coding	2/29			chr15	TogoVar
ITGA11_chr15_68291532_68437163	68400587	T T	TTATATAT others(19): Show TTATATATTATATATTATAATATATAA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0002 a0002	a0002c0039 a0002c0039	a0002c0039t0008 a0002c0039t0008	a0002c0039t0008g0176 a0002c0039t0008g0176	1	242	0.0041	26	c.164 others(43): Show c.164+2305_164+2330dupTTATATATTATAATATATAATATATA	ITGA11	ENSG00000137809.17	transcript	ENST00000315757.9	protein_coding	2/29			chr15	TogoVar
ITGA11_chr15_68291532_68437163	68400601	T T	TTATAATA others(19): Show TTATAATATATAATATATATTATATAA	intron_variant intron_variant	MODIFIER	HG03540.hp1 NA19240.hp2 HG03540.hp1 NA19240.hp2	a0003 a0008 a0003 a0008	a0003c0009 a0008c0044 a0003c0009 a0008c0044	a0003c0009t0001 a0008c0044t0004 a0003c0009t0001 a0008c0044t0004	a0003c0009t0001g0226 a0008c0044t0004g0039 a0003c0009t0001g0226 a0008c0044t0004g0039	2	242	0.0083	26	c.164 others(43): Show c.164+2291_164+2316dupTTATATAATATATATTATATATTATA	ITGA11	ENSG00000137809.17	transcript	ENST00000315757.9	protein_coding	2/29			chr15	TogoVar
ITGA11_chr15_68291532_68437163	68400817	T T	TTATATAT others(19): Show TTATATATTATATAATAAATATTATAA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02129.hp2 HG02132.hp2 others(3): Show HG00597.hp2 HG02129.hp2 HG02132.hp2 NA18941.hp2 NA18959.hp1 NA18964.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0014	a0001c0001 a0001c0002 a0002c0055 others(3): Show a0001c0001 a0001c0002 a0002c0055 a0003c0009 a0004c0011 a0014c0062	a0001c0001t0003 a0001c0002t0076 a0002c0055t0007 others(3): Show a0001c0001t0003 a0001c0002t0076 a0002c0055t0007 a0003c0009t0002 a0004c0011t0007 a0014c0062t0002	a0001c0001t0003g0066 a0001c0002t0076g0076 a0002c0055t0007g0200 others(3): Show a0001c0001t0003g0066 a0001c0002t0076g0076 a0002c0055t0007g0200 a0003c0009t0002g0078 a0004c0011t0007g0109 a0014c0062t0002g0091	6	242	0.0248	26	c.164 others(43): Show c.164+2100_164+2101insTTATAATATTTATTATATAATATATA	ITGA11	ENSG00000137809.17	transcript	ENST00000315757.9	protein_coding	2/29			chr15	TogoVar
ITGA11_chr15_68291532_68437163	68433478	G G	GGTGTGTG others(19): Show GGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG03041.hp2 HG04184.hp1 HG02559.hp2 HG03041.hp2 HG04184.hp1	a0002 a0003 a0006 a0002 a0003 a0006	a0002c0070 a0003c0004 a0006c0017 a0002c0070 a0003c0004 a0006c0017	a0002c0070t0111 a0003c0004t0002 a0006c0017t0012 a0002c0070t0111 a0003c0004t0002 a0006c0017t0012	a0002c0070t0111g0119 a0003c0004t0002g0209 a0006c0017t0012g0120 a0002c0070t0111g0119 a0003c0004t0002g0209 a0006c0017t0012g0120	3	242	0.0124	26	c.-14 others(37): Show c.-1413_-1412insACACACACACACACACACACACACAC	ITGA11	ENSG00000137809.17	transcript	ENST00000315757.9	protein_coding		1316		chr15	TogoVar
ITGA1_chr5_52782916_52964209	52962755	C C	CACACACA others(19): Show CACACACACATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0280 a0001c0002t0008g0280	1	322	0.0031	26	c.10 others(39): Show c.10304_*10305insACACACACATATATATATATATATAT	ITGA1	ENSG00000213949.10	transcript	ENST00000282588.7	protein_coding		3547		chr5	TogoVar
ITGA1_chr5_52782916_52964209	52962755	C C	CACACATA others(19): Show CACACATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp1 NA18982.hp2 NA19007.hp1 others(1): Show HG02071.hp1 NA18982.hp2 NA19007.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0008 others(1): Show a0001c0001 a0001c0002 a0003c0008 a0003c0014	a0001c0001t0008 a0001c0002t0029 a0003c0008t0003 others(1): Show a0001c0001t0008 a0001c0002t0029 a0003c0008t0003 a0003c0014t0003	a0001c0001t0008g0250 a0001c0002t0029g0290 a0003c0008t0003g0216 others(1): Show a0001c0001t0008g0250 a0001c0002t0029g0290 a0003c0008t0003g0216 a0003c0014t0003g0138	4	322	0.0124	26	c.10 others(39): Show c.10304_*10305insACACATATATATATATATATATATAT	ITGA1	ENSG00000213949.10	transcript	ENST00000282588.7	protein_coding		3547		chr5	TogoVar
ITGA2B_chr17_44367181_44394649	44368119	A A	AATATATA others(19): Show AATATATATATATATATATATAAATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	354	0.0028	26	c.42 others(37): Show c.4244_*4245insATATTTATATATATATATATATATAT	ITGA2B	ENSG00000005961.19	transcript	ENST00000262407.6	protein_coding		4061		chr17	TogoVar
ITGA2B_chr17_44367181_44394649	44368119	A A	AATATATA others(19): Show AATATATATATATATATATATATAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	354	0.0028	26	c.42 others(37): Show c.4244_*4245insATTTATATATATATATATATATATAT	ITGA2B	ENSG00000005961.19	transcript	ENST00000262407.6	protein_coding		4061		chr17	TogoVar
ITGA6_chr2_172422586_172511459	172506810	T T	TACACACA others(19): Show TACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0003 a0002c0005t0003	a0002c0005t0003g0086 a0002c0005t0003g0086	1	352	0.0028	26	c.25 others(37): Show c.2558_*2559insACACACACACACACACACACACACAC	ITGA6	ENSG00000091409.16	transcript	ENST00000442250.6	protein_coding		352		chr2	TogoVar
ITGA6_chr2_172422586_172511459	172506840	C C	CACACACA others(19): Show CACACACACACACACACACACATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0233 a0001c0002t0002g0233	1	352	0.0028	26	c.25 others(37): Show c.2588_*2589insACACACACACACACACACACATATAT	ITGA6	ENSG00000091409.16	transcript	ENST00000442250.6	protein_coding		382		chr2	TogoVar
ITGA6_chr2_172422586_172511459	172506840	C C	CACACACA others(19): Show CACACACACACACACACACATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0231 a0001c0002t0002g0231	1	352	0.0028	26	c.25 others(37): Show c.2588_*2589insACACACACACACACACACATATATAT	ITGA6	ENSG00000091409.16	transcript	ENST00000442250.6	protein_coding		382		chr2	TogoVar
ITGA8_chr10_15508954_15724922	15694678	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0007 a0003c0003t0007	a0003c0003t0007g0006 a0003c0003t0007g0006	1	220	0.0046	26	c.344 others(43): Show c.344-6641_344-6640insATATATATATATATATATATATATAT	ITGA8	ENSG00000077943.8	transcript	ENST00000378076.4	protein_coding	2/29			chr10	TogoVar
ITGA9_chr3_37447141_37828507	37621109	G G	GGGAAGTC others(19): Show GGGAAGTCTGTTCTTATGAATAAGTTC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0018 a0002c0010t0018	a0002c0010t0018g0020 a0002c0010t0018g0020	1	168	0.0060	26	c.169 others(45): Show c.1690-8078_1690-8077insGGAAGTCTGTTCTTATGAATAAGTTC	ITGA9	ENSG00000144668.12	transcript	ENST00000264741.10	protein_coding	15/27			chr3	TogoVar
ITGAE_chr17_3709628_3806188	3730454	A A	AAAAAAAA others(19): Show AAAAAAAAAATAAAAAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01070.hp1 HG01071.hp2 others(1): Show HG00738.hp2 HG01070.hp1 HG01071.hp2 NA20752.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0083 a0005c0005t0001g0174 a0005c0005t0001g0175 others(1): Show a0005c0005t0001g0083 a0005c0005t0001g0174 a0005c0005t0001g0175 a0005c0005t0001g0176	4	302	0.0133	26	c.283 others(43): Show c.2834+649_2834+650insATTTATTTATTTTTTTATTTTTTTTT	ITGAE	ENSG00000083457.12	transcript	ENST00000263087.9	protein_coding	23/30			chr17	TogoVar
ITGAE_chr17_3709628_3806188	3788694	A A	ATTAAAAA others(19): Show ATTAAAAATAATTATTAAAATAATTAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	302	0.0033	26	c.35- others(43): Show c.35-11035_35-11034insATAATTATTTTAATAATTATTTTTAA	ITGAE	ENSG00000083457.12	transcript	ENST00000263087.9	protein_coding	1/30			chr17	TogoVar
ITGAE_chr17_3709628_3806188	3788847	T T	TAATAATT others(19): Show TAATAATTATTAAAATAATTATTTAAA	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG03688.hp2 HG02602.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0158 a0001c0001t0001g0161	2	302	0.0066	26	c.35- others(43): Show c.35-11188_35-11187insTTTAAATAATTATTTTAATAATTATT	ITGAE	ENSG00000083457.12	transcript	ENST00000263087.9	protein_coding	1/30			chr17	TogoVar
ITGAE_chr17_3709628_3806188	3796170	C C	CGTGTGTG others(19): Show CGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01123.hp1 HG01175.hp1 others(1): Show HG00642.hp1 HG01123.hp1 HG01175.hp1 HG02273.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0191 a0001c0001t0001g0202 a0001c0001t0001g0272 others(1): Show a0001c0001t0001g0191 a0001c0001t0001g0202 a0001c0001t0001g0272 a0002c0002t0001g0190	4	302	0.0133	26	c.34+ others(41): Show c.34+4940_34+4941insACACACACACACACACACACACACAC	ITGAE	ENSG00000083457.12	transcript	ENST00000263087.9	protein_coding	1/30			chr17	TogoVar
ITGAL_chr16_30467742_30528185	30493245	C C	CATTTTAT others(19): Show CATTTTATTTTTATTTTATTTTATTTT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01243.hp2 HG01070.hp2 HG01243.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0048 a0002c0002t0001g0047 a0001c0001t0001g0048 a0002c0002t0001g0047	2	318	0.0063	26	c.121 others(43): Show c.1214-957_1214-956insTATTTTATTTTATTTTATTTTATTTT	ITGAL	ENSG00000005844.19	transcript	ENST00000356798.11	protein_coding	11/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
ITGAL_chr16_30467742_30528185	30499673	A A	ATATGTGT others(19): Show ATATGTGTATATATATGTATATATATG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0233 a0001c0005t0001g0233	1	318	0.0031	26	c.214 others(43): Show c.2145+185_2145+186insATGTGTATATATATGTATATATATGT	ITGAL	ENSG00000005844.19	transcript	ENST00000356798.11	protein_coding	17/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
ITGAL_chr16_30467742_30528185	30499687	G G	GTATATAT others(19): Show GTATATATATGTGTATATATATATGTA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0298 a0001c0005t0001g0298	1	318	0.0031	26	c.214 others(43): Show c.2145+221_2145+222insGTATATATATATGTGTATATATATAT	ITGAL	ENSG00000005844.19	transcript	ENST00000356798.11	protein_coding	17/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
ITGAL_chr16_30467742_30528185	30499717	A A	ATATATGT others(19): Show ATATATGTGTATATATATATATGTGTG	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	318	0.0031	26	c.214 others(43): Show c.2145+233_2145+234insGTGTATATATATATATGTGTGTATAT	ITGAL	ENSG00000005844.19	transcript	ENST00000356798.11	protein_coding	17/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
ITGAM_chr16_31254975_31337877	31258303	A A	ATATATAT others(19): Show ATATATATATATATTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0154 a0001c0005t0004g0154	1	244	0.0041	26	c.-17 others(37): Show c.-1762_-1761insTATATATATATATTTTTTTTTTTTTT	ITGAM	ENSG00000169896.18	transcript	ENST00000544665.9	protein_coding		1671		chr16	TogoVar
ITGAM_chr16_31254975_31337877	31302926	T T	TTCTTTCT others(19): Show TTCTTTCTCTCTCTCTCTTTCCCTCCC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0008 a0001c0013t0008	a0001c0013t0008g0175 a0001c0013t0008g0175	1	244	0.0041	26	c.170 others(45): Show c.1707+4979_1707+4980insCTCTCTCTCTTTCCCTCCCTCTTTCT	ITGAM	ENSG00000169896.18	transcript	ENST00000544665.9	protein_coding	14/29		INFO_REALIGN_3_PRIME	chr16	TogoVar
ITGAV_chr2_186585056_186685901	186668216	A A	ATATATAT others(19): Show ATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	308	0.0033	26	c.243 others(43): Show c.2433+441_2433+442insATATATATATATATATATATATTTTT	ITGAV	ENSG00000138448.13	transcript	ENST00000261023.8	protein_coding	24/29		INFO_REALIGN_3_PRIME	chr2	TogoVar
ITGAV_chr2_186585056_186685901	186668216	A A	ATATATAT others(19): Show ATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	308	0.0033	26	c.243 others(43): Show c.2433+441_2433+442insATATATATATATATATATTTTTTTTT	ITGAV	ENSG00000138448.13	transcript	ENST00000261023.8	protein_coding	24/29		INFO_REALIGN_3_PRIME	chr2	TogoVar
ITGAV_chr2_186585056_186685901	186668216	A A	ATATATAT others(19): Show ATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	308	0.0033	26	c.243 others(43): Show c.2433+441_2433+442insATATATATATATATATTTTTTTTTTT	ITGAV	ENSG00000138448.13	transcript	ENST00000261023.8	protein_coding	24/29		INFO_REALIGN_3_PRIME	chr2	TogoVar
ITGB1_chr10_32895318_32963230	32947432	C C	CGTGTGTG others(19): Show CGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00544.hp2 NA18957.hp1 NA18998.hp2 others(2): Show HG00544.hp2 NA18957.hp1 NA18998.hp2 NA19064.hp1 NA19066.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0010 a0001c0004t0001g0174 a0001c0004t0001g0175 a0001c0004t0001g0010 a0001c0004t0001g0174 a0001c0004t0001g0175	5	424	0.0118	26	c.-1+ others(43): Show c.-1+10687_-1+10712dupACACACACACACACACACACACACAC	ITGB1	ENSG00000150093.20	transcript	ENST00000302278.8	protein_coding	1/15			chr10	TogoVar
ITGB3BP_chr1_63435770_63528225	63472443	T T	TCCCTCTC others(19): Show TCCCTCTCCCTCTCCCTCTCCCCTCTC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02071.hp2 NA18989.hp2 others(1): Show HG01884.hp1 HG02071.hp2 NA18989.hp2 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0291 a0001c0001t0001g0295 a0001c0001t0001g0322 others(1): Show a0001c0001t0001g0291 a0001c0001t0001g0295 a0001c0001t0001g0322 a0001c0001t0001g0328	4	374	0.0107	26	c.254 others(43): Show c.254+6320_254+6321insGAGAGGGGAGAGGGAGAGGGAGAGGG	ITGB3BP	ENSG00000142856.17	transcript	ENST00000271002.15	protein_coding	4/8			chr1	TogoVar
ITGBL1_chr13_101447675_101721446	101604885	T T	TACACACA others(19): Show TACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	306	0.0033	26	c.101 others(45): Show c.1015+6587_1015+6588insCACACACACACACACACACACACACA	ITGBL1	ENSG00000198542.15	transcript	ENST00000376180.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr13	TogoVar
ITGBL1_chr13_101447675_101721446	101604887	T T	TACACACA others(19): Show TACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0213 a0001c0002t0001g0213	1	306	0.0033	26	c.101 others(45): Show c.1015+6603_1015+6604insCACACACACACACACACACACACACA	ITGBL1	ENSG00000198542.15	transcript	ENST00000376180.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr13	TogoVar
ITGBL1_chr13_101447675_101721446	101604887	T T	TATACACA others(19): Show TATACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00609.hp2 NA18970.hp1 NA18980.hp2 others(4): Show HG00609.hp2 NA18970.hp1 NA18980.hp2 NA18999.hp1 NA19010.hp1 NA19060.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0179 a0001c0003t0001g0002 a0001c0003t0001g0145 others(3): Show a0001c0001t0001g0179 a0001c0003t0001g0002 a0001c0003t0001g0145 a0001c0003t0001g0155 a0001c0003t0001g0183 a0001c0003t0001g0185	7	306	0.0229	26	c.101 others(45): Show c.1015+6589_1015+6590insTACACACACACACACACACACACACA	ITGBL1	ENSG00000198542.15	transcript	ENST00000376180.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr13	TogoVar
ITGBL1_chr13_101447675_101721446	101604887	T T	TATATATA others(19): Show TATATATATGTATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	306	0.0033	26	c.101 others(45): Show c.1015+6589_1015+6590insTATATATGTATATATATATATACACA	ITGBL1	ENSG00000198542.15	transcript	ENST00000376180.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr13	TogoVar
ITGBL1_chr13_101447675_101721446	101689211	T T	TAAAAAAA others(19): Show TAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00735.hp1 HG03490.hp1 others(6): Show HG00621.hp1 HG00735.hp1 HG03490.hp1 HG03492.hp1 HG03710.hp2 NA18946.hp1 NA19011.hp2 NA19063.hp1 NA19066.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0011 others(1): Show a0001c0001 a0001c0003 a0001c0011 a0002c0012	a0001c0001t0001 a0001c0003t0001 a0001c0011t0001 others(1): Show a0001c0001t0001 a0001c0003t0001 a0001c0011t0001 a0002c0012t0001	a0001c0001t0001g0154 a0001c0001t0001g0162 a0001c0001t0001g0166 others(6): Show a0001c0001t0001g0154 a0001c0001t0001g0162 a0001c0001t0001g0166 a0001c0003t0001g0024 a0001c0003t0001g0025 a0001c0003t0001g0097 a0001c0003t0001g0185 a0001c0011t0001g0008 a0002c0012t0001g0218	9	306	0.0294	26	c.101 others(45): Show c.1016-3352_1016-3351insAAAAAAAAAAAAAAAAAAAAAAAAAA	ITGBL1	ENSG00000198542.15	transcript	ENST00000376180.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr13	TogoVar
ITIH5_chr10_7554270_7671966	7566764	A A	AACAGAGA others(19): Show AACAGAGAGAAGGAGAAGGAGAAGGAG	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0110 a0003c0005t0001g0110	1	342	0.0029	26	c.215 others(43): Show c.2150-358_2150-357insCTCCTTCTCCTTCTCCTTCTCTCTGT	ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding	12/13			chr10	TogoVar
ITIH5_chr10_7554270_7671966	7566770	G G	GGAGAAGG others(19): Show GGAGAAGGAGAAGGAGAAGGAGAAGGA	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA19091.hp1 NA18943.hp1 NA19091.hp1	a0003 a0009 a0003 a0009	a0003c0002 a0009c0027 a0003c0002 a0009c0027	a0003c0002t0001 a0009c0027t0001 a0003c0002t0001 a0009c0027t0001	a0003c0002t0001g0051 a0009c0027t0001g0208 a0003c0002t0001g0051 a0009c0027t0001g0208	2	342	0.0059	26	c.215 others(43): Show c.2150-364_2150-363insTCCTTCTCCTTCTCCTTCTCCTTCTC	ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding	12/13			chr10	TogoVar
ITK_chr5_157175840_157260185	157233932	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01943.hp1 HG01168.hp2 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0287 a0001c0002t0001g0051 a0001c0001t0002g0287 a0001c0002t0001g0051	2	348	0.0058	26	c.768 others(43): Show c.768+1545_768+1570dupATATATATATATATATATATATATAT	ITK	ENSG00000113263.14	transcript	ENST00000422843.8	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr5	TogoVar
ITLN2_chr1_160940025_160959809	160942871	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0001 a0005c0004t0001	a0005c0004t0001g0044 a0005c0004t0001g0044	1	480	0.0021	26	c.22 others(37): Show c.2268_*2269insTTTTTTTTTTTTTTTTTTTTTTTTTT	ITLN2	ENSG00000158764.7	transcript	ENST00000368029.4	protein_coding		2153		chr1	TogoVar
ITPKB_chr1_226626690_226744282	226740869	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAAAAAAAGAGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0121 a0002c0002t0001g0121	1	350	0.0029	26	c.-20 others(37): Show c.-2035_-2034insCTTCTCTTTTTTTTTTTTTTTTTTTT	ITPKB	ENSG00000143772.11	transcript	ENST00000429204.6	protein_coding		1588		chr1	TogoVar
ITPR1_chr3_4488348_4852506	4609051	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0058 a0001c0058	a0001c0058t0005 a0001c0058t0005	a0001c0058t0005g0036 a0001c0058t0005g0036	1	176	0.0057	26	c.164 others(45): Show c.164-18698_164-18673dupTATATATATATATATATATATATATA	ITPR1	ENSG00000150995.21	transcript	ENST00000649015.2	protein_coding	4/61		INFO_REALIGN_3_PRIME	chr3	TogoVar
ITPR1_chr3_4488348_4852506	4721172	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02976.hp1 HG02922.hp2 HG02976.hp1	a0001 a0001	a0001c0002 a0001c0090 a0001c0002 a0001c0090	a0001c0002t0015 a0001c0090t0022 a0001c0002t0015 a0001c0090t0022	a0001c0002t0015g0130 a0001c0090t0022g0118 a0001c0002t0015g0130 a0001c0090t0022g0118	2	176	0.0114	26	c.513 others(45): Show c.5136+3779_5136+3804dupATATATATATATATATATATATATAT	ITPR1	ENSG00000150995.21	transcript	ENST00000649015.2	protein_coding	40/61		INFO_REALIGN_3_PRIME	chr3	TogoVar
ITPR2_chr12_26330352_26838194	26342494	C C	CGGGGGGG others(19): Show CGGGGGGGGGGGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0009 a0009	a0009c0050 a0009c0050	a0009c0050t0003 a0009c0050t0003	a0009c0050t0003g0016 a0009c0050t0003g0016	1	142	0.0070	26	c.785 others(45): Show c.7858-2167_7858-2166insCCCCCCCCCCCCCCCCCCCCCCCCCC	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	55/56			chr12	TogoVar
ITPR2_chr12_26330352_26838194	26567941	A A	ATATATAT others(19): Show ATATATATATTATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0003 a0001c0016t0003	a0001c0016t0003g0032 a0001c0016t0003g0032	1	142	0.0070	26	c.463 others(45): Show c.4631-6015_4631-5990dupATATATATATATATATAATATATATA	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	34/56			chr12	TogoVar
ITPR2_chr12_26330352_26838194	26567952	A A	ATATATAT others(19): Show ATATATATATATATATATTATATATAT	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19090.hp1 NA19090.hp2 NA19056.hp2 NA19090.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0018 a0001c0001 a0001c0003 a0001c0018	a0001c0001t0001 a0001c0003t0033 a0001c0018t0047 a0001c0001t0001 a0001c0003t0033 a0001c0018t0047	a0001c0001t0001g0036 a0001c0003t0033g0081 a0001c0018t0047g0112 a0001c0001t0001g0036 a0001c0003t0033g0081 a0001c0018t0047g0112	3	142	0.0211	26	c.463 others(45): Show c.4631-6026_4631-6001dupATATATATAATATATATATATATATA	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	34/56			chr12	TogoVar
ITPR2_chr12_26330352_26838194	26781992	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0097 a0001c0008t0002g0097	1	142	0.0070	26	c.163 others(43): Show c.163+8139_163+8164dupTATATATATATATATATATATATATA	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	2/56			chr12	TogoVar
ITPR2_chr12_26330352_26838194	26786449	T T	TAAAAAAA others(19): Show TAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0002 a0002	a0002c0023 a0002c0023	a0002c0023t0019 a0002c0023t0019	a0002c0023t0019g0131 a0002c0023t0019g0131	1	142	0.0070	26	c.163 others(43): Show c.163+3707_163+3708insTTTTTTTTTTTTTTTTTTTTTTTTTT	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	2/56			chr12	TogoVar
ITPR2_chr12_26330352_26838194	26831773	C C	CTACATAA others(19): Show CTACATAAAATATATAAATATATATTA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0099 a0001c0003t0014g0099	1	142	0.0070	26	c.92+ others(39): Show c.92+891_92+916dupTAATATATATTTATATATTTTATGTA	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	1/56			chr12	TogoVar
ITPRID1_chr7_31509090_31661504	31519620	C C	CCATATAT others(19): Show CCATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0003 a0002c0001t0003	a0002c0001t0003g0181 a0002c0001t0003g0181	1	312	0.0032	26	c.-98 others(43): Show c.-98+5500_-98+5501insCATATATATATATATATATATATATA	ITPRID1	ENSG00000180347.15	transcript	ENST00000615280.5	protein_coding	1/14			chr7	TogoVar

Search by Variant

Search

Search Results