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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
BAG6_chr6_31634028_31657661	31638543	CAAAATAC others(14): Show CAAAATACAGGTTTTTTATTTA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0101 a0002c0003t0001g0101	1	426	0.0023	-21	c.56 others(30): Show c.567_*587delTAAATAAAAAACCTGTATTTT		BAG6	ENSG00000204463.14	transcript	ENST00000676615.2	protein_coding					484		chr6	TogoVar
BAIAP2_chr17_81030151_81122434	81031040	TTGCTGGT others(14): Show TTGCTGGTAACGCTGCCATTGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG02109.hp2 HG02965.hp2 others(3): Show HG01891.hp2 HG02109.hp2 HG02965.hp2 HG03239.hp2 NA19079.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0013 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0013 a0001c0001t0022 a0001c0001t0024	a0001c0001t0001g0009 a0001c0001t0003g0214 a0001c0001t0013g0268 others(3): Show a0001c0001t0001g0009 a0001c0001t0003g0214 a0001c0001t0013g0268 a0001c0001t0013g0269 a0001c0001t0022g0329 a0001c0001t0024g0220	6	374	0.0160	-21	c.-42 others(32): Show c.-4214_-4194delTGCTGGTAACGCTGCCATTGG		BAIAP2	ENSG00000175866.16	transcript	ENST00000428708.7	protein_coding					4110		chr17	TogoVar
BANK1_chr4_101785730_102079812	101839937	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03704.hp1 NA21309.hp1 HG03704.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0003 a0001c0001t0002 a0002c0003t0003	a0001c0001t0002g0090 a0002c0003t0003g0242 a0001c0001t0002g0090 a0002c0003t0003g0242	2	30	0.0667	-21	c.469 others(38): Show c.469+9760_469+9780delTTTTTTTTTTTTTTTTTTTTT		BANK1	ENSG00000153064.12	transcript	ENST00000322953.9	protein_coding	2/16					INFO_REALIGN_3_PRIME	chr4	TogoVar
BARD1_chr2_214720646_214814683	214780778	GTGGTGAA others(14): Show GTGGTGAAGAACATTCAGGCAA	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00609.hp2 HG00621.hp2 HG00735.hp2 others(23): Show HG00609.hp2 HG00621.hp2 HG00735.hp2 HG01255.hp2 HG01361.hp2 HG01981.hp1 HG02155.hp2 HG02300.hp2 HG02451.hp1 HG03927.hp1 HG03942.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp2 HG04228.hp2 NA18943.hp1 NA18951.hp1 NA18957.hp2 NA18960.hp1 NA18970.hp1 NA18972.hp2 NA18981.hp2 NA18986.hp2 NA19004.hp2 NA19062.hp2 NA19076.hp2	a0003 a0014 a0003 a0014	a0003c0005 a0003c0024 a0014c0016 a0003c0005 a0003c0024 a0014c0016	a0003c0005t0005 a0003c0005t0006 a0003c0005t0034 others(7): Show a0003c0005t0005 a0003c0005t0006 a0003c0005t0034 a0003c0005t0035 a0003c0005t0042 a0003c0005t0056 a0003c0005t0065 a0003c0024t0006 a0014c0016t0005 a0014c0016t0029	a0003c0005t0005g0106 a0003c0005t0006g0021 a0003c0005t0006g0022 others(21): Show a0003c0005t0005g0106 a0003c0005t0006g0021 a0003c0005t0006g0022 a0003c0005t0006g0234 a0003c0005t0006g0235 a0003c0005t0006g0236 a0003c0005t0006g0240 a0003c0005t0006g0241 a0003c0005t0006g0242 a0003c0005t0006g0243 a0003c0005t0006g0244 a0003c0005t0006g0246 a0003c0005t0006g0248 a0003c0005t0006g0263 a0003c0005t0006g0264 a0003c0005t0034g0245 a0003c0005t0035g0247 a0003c0005t0035g0249 a0003c0005t0042g0032 a0003c0005t0056g0237 a0003c0005t0065g0238 a0003c0024t0006g0239 a0014c0016t0005g0195 a0014c0016t0029g0154	26	360	0.0722	-21	c.107 others(30): Show c.1075_1095delTTGCCTGAATGTTCTTCACCA	p.Leu others(13): Show p.Leu359_Pro365del	BARD1	ENSG00000138376.11	transcript	ENST00000260947.9	protein_coding	4/11	1209/5478	1075/2334	359/777			chr2	TogoVar
BAX_chr19_48949875_48966798	48962781	CCCCCTCT others(14): Show CCCCCTCTCTCTGGGTCTCTGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG02717.hp1 HG02818.hp2 others(7): Show HG02486.hp2 HG02717.hp1 HG02818.hp2 HG02895.hp2 HG02922.hp1 HG02976.hp1 HG03041.hp1 NA18522.hp1 NA19030.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0034 a0001c0001t0001g0035 others(4): Show a0001c0001t0001g0014 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082	10	416	0.0240	-21	c.11 others(32): Show c.1146_*1166delCCCCTCTCTCTGGGTCTCTGT		BAX	ENSG00000087088.21	transcript	ENST00000345358.12	protein_coding					984		chr19	TogoVar
BAZ1A_chr14_34747731_34880360	34836378	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0328 a0001c0001t0001g0328	1	246	0.0041	-21	c.393 others(40): Show c.393-10243_393-10223delTTTTTTTTTTTTTTTTTTTTT		BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	3/26						chr14	TogoVar
BAZ1B_chr7_73435406_73527293	73456937	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02451.hp2 HG03195.hp1 others(2): Show HG00597.hp2 HG02451.hp2 HG03195.hp1 HG03209.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 others(2): Show a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0004g0099	5	12	0.4167	-21	c.343 others(40): Show c.3432+2578_3432+2598delTTTTTTTTTTTTTTTTTTTTT		BAZ1B	ENSG00000009954.11	transcript	ENST00000339594.9	protein_coding	13/19						chr7	TogoVar
BAZ2A_chr12_56590596_56635326	56597616	CACACAGC others(14): Show CACACAGCGCGCTCTGAGGCCG	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0027 a0001c0003t0007g0027	1	314	0.0032	-21	c.98 others(31): Show c.981_*1001delCGGCCTCAGAGCGCGCTGTGT		BAZ2A	ENSG00000076108.12	transcript	ENST00000549884.6	protein_coding	29/29				981		chr12	TogoVar
BBS2_chr16_56479385_56525024	56508701	AGTGGCGT others(14): Show AGTGGCGTGATCATAGCTCACT	A A	intron_variant intron_variant	MODIFIER	HG02615.hp1 NA18522.hp1 HG02615.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0078 a0001c0001t0001g0079	2	396	0.0051	-21	c.612 others(38): Show c.612+1235_612+1255delAGTGAGCTATGATCACGCCAC		BBS2	ENSG00000125124.14	transcript	ENST00000245157.11	protein_coding	5/16						chr16	TogoVar
BBS5_chr2_169474494_169511655	169489851	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0168 a0001c0001t0014g0168	1	13	0.0769	-21	c.386 others(38): Show c.386+1758_386+1778delTTTTTTTTTTTTTTTTTTTTT		BBS5	ENSG00000163093.12	transcript	ENST00000295240.8	protein_coding	5/11					INFO_REALIGN_3_PRIME	chr2	TogoVar
BBX_chr3_107517962_107816339	107555945	AATTTAAA others(14): Show AATTTAAATAAATTTGTTTGTG	A A	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0136 a0001c0001t0007g0136	1	220	0.0045	-21	c.-84 others(40): Show c.-84+29550_-84+29570delTTAAATAAATTTGTTTGTGAT		BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding	2/17					INFO_REALIGN_3_PRIME	chr3	TogoVar
BBX_chr3_107517962_107816339	107769220	AGATAGAT others(14): Show AGATAGATAGACAGATAGATAG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03041.hp2 HG01884.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0020 a0001c0001t0002 a0001c0001t0020	a0001c0001t0002g0048 a0001c0001t0020g0099 a0001c0001t0002g0048 a0001c0001t0020g0099	2	220	0.0091	-21	c.907 others(38): Show c.907-3397_907-3377delCAGATAGATAGGATAGATAGA		BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding	10/17					INFO_REALIGN_3_PRIME	chr3	TogoVar
BCAS2_chr1_114562557_114586615	114584554	ACGTGAGC others(14): Show ACGTGAGCCATAGCACCCAGCC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	412	0.0024	-21	c.-29 others(32): Show c.-2984_-2964delGGCTGGGTGCTATGGCTCACG		BCAS2	ENSG00000116752.6	transcript	ENST00000369541.4	protein_coding					2940		chr1	TogoVar
BCAS4_chr20_50790061_50882177	50796473	ATATATAT others(14): Show ATATATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	268	0.0037	-21	c.90+ others(36): Show c.90+1302_90+1322delATATATATATATATTTTTTTT		BCAS4	ENSG00000124243.19	transcript	ENST00000371608.8	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr20	TogoVar
BCL2L13_chr22_17633757_17735855	17680521	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02717.hp2 HG02896.hp1 others(6): Show HG01255.hp2 HG02717.hp2 HG02896.hp1 HG03195.hp2 HG03471.hp2 NA18522.hp1 NA18984.hp1 NA19030.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0061 others(1): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0061 a0001c0001t0064	a0001c0001t0002g0100 a0001c0001t0002g0176 a0001c0001t0007g0111 others(6): Show a0001c0001t0002g0100 a0001c0001t0002g0176 a0001c0001t0007g0111 a0001c0001t0007g0112 a0001c0001t0007g0121 a0001c0001t0007g0247 a0001c0001t0007g0248 a0001c0001t0061g0113 a0001c0001t0064g0106	9	304	0.0296	-21	c.122 others(38): Show c.122-2685_122-2665delAAAAAAAAAAAAAGAAAAAAA		BCL2L13	ENSG00000099968.18	transcript	ENST00000317582.10	protein_coding	2/6					INFO_REALIGN_3_PRIME	chr22	TogoVar
BCL2L13_chr22_17633757_17735855	17715150	ATATATAT others(14): Show ATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02818.hp2 NA18956.hp2 HG02698.hp2 HG02818.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0020 a0001c0001t0008 a0001c0001t0020	a0001c0001t0008g0228 a0001c0001t0008g0230 a0001c0001t0020g0225 a0001c0001t0008g0228 a0001c0001t0008g0230 a0001c0001t0020g0225	3	257	0.0117	-21	c.601 others(40): Show c.601-11525_601-11505delATATATATATATATATATATT		BCL2L13	ENSG00000099968.18	transcript	ENST00000317582.10	protein_coding	6/6					INFO_REALIGN_3_PRIME	chr22	TogoVar
BCL2L13_chr22_17633757_17735855	17715152	ATATATAT others(14): Show ATATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp2 HG02257.hp1 others(1): Show HG01070.hp1 HG01070.hp2 HG02257.hp1 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0013 a0001c0001t0020 a0001c0001t0002 a0001c0001t0013 a0001c0001t0020	a0001c0001t0002g0114 a0001c0001t0002g0182 a0001c0001t0013g0192 others(1): Show a0001c0001t0002g0114 a0001c0001t0002g0182 a0001c0001t0013g0192 a0001c0001t0020g0233	4	289	0.0138	-21	c.601 others(40): Show c.601-11523_601-11503delATATATATATATATATATTTT		BCL2L13	ENSG00000099968.18	transcript	ENST00000317582.10	protein_coding	6/6					INFO_REALIGN_3_PRIME	chr22	TogoVar
BCL2L13_chr22_17633757_17735855	17715154	ATATATAT others(14): Show ATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0080 a0001c0002t0006g0080	1	294	0.0034	-21	c.601 others(40): Show c.601-11521_601-11501delATATATATATATATATTTTTT		BCL2L13	ENSG00000099968.18	transcript	ENST00000317582.10	protein_coding	6/6					INFO_REALIGN_3_PRIME	chr22	TogoVar
BCL2L13_chr22_17633757_17735855	17715156	ATATATAT others(14): Show ATATATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03710.hp2 NA19079.hp2 HG03710.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0002t0006 a0001c0001t0008 a0001c0002t0006	a0001c0001t0008g0224 a0001c0002t0006g0079 a0001c0001t0008g0224 a0001c0002t0006g0079	2	297	0.0067	-21	c.601 others(40): Show c.601-11519_601-11499delATATATATATATATTTTTTTT		BCL2L13	ENSG00000099968.18	transcript	ENST00000317582.10	protein_coding	6/6					INFO_REALIGN_3_PRIME	chr22	TogoVar
BCL2L13_chr22_17633757_17735855	17715158	ATATATAT others(14): Show ATATATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0093 a0004c0006t0001g0093	1	299	0.0033	-21	c.601 others(40): Show c.601-11517_601-11497delATATATATATATTTTTTTTTT		BCL2L13	ENSG00000099968.18	transcript	ENST00000317582.10	protein_coding	6/6					INFO_REALIGN_3_PRIME	chr22	TogoVar
BCL2_chr18_63118346_63324769	63220250	TGATCTAG others(14): Show TGATCTAGAACATAAGTTGACC	T T	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0096 a0002c0003t0004g0096	1	262	0.0038	-21	c.586 others(40): Show c.586-91512_586-91492delGGTCAACTTATGTTCTAGATC		BCL2	ENSG00000171791.14	transcript	ENST00000333681.5	protein_coding	2/2						chr18	TogoVar
BCR_chr22_23175509_23323037	23180773	CCCGCGCG others(14): Show CCCGCGCGCCGAGCGCCCCGCT	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0094 a0002c0003t0094	a0002c0003t0094g0120 a0002c0003t0094g0120	1	294	0.0034	-21	c.-18 others(30): Show c.-183_-163delGCGCCGAGCGCCCCGCTCCGC		BCR	ENSG00000186716.21	transcript	ENST00000305877.13	protein_coding	1/23				163	INFO_REALIGN_3_PRIME	chr22	TogoVar
BDH1_chr3_197504783_197560968	197510663	TGTGTGTG others(14): Show TGTGTGTGTACATGTGTGTAAG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01884.hp1 HG03486.hp2 NA19030.hp2 HG01884.hp1 HG03486.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0069 a0001c0001t0002 a0001c0001t0005 a0001c0001t0069	a0001c0001t0002g0068 a0001c0001t0005g0020 a0001c0001t0069g0091 a0001c0001t0002g0068 a0001c0001t0005g0020 a0001c0001t0069g0091	3	318	0.0094	-21	c.12 others(32): Show c.1211_*1231delCTTACACACATGTACACACAC		BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	8/8				1211		chr3	TogoVar
BEAN1_chr16_66422295_66487833	66445475	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02559.hp2 HG02630.hp2 others(14): Show HG01109.hp2 HG02559.hp2 HG02630.hp2 HG02818.hp1 HG02886.hp1 HG02922.hp2 HG02970.hp1 HG03098.hp2 HG03209.hp1 HG03453.hp2 HG03516.hp2 HG03579.hp1 NA18982.hp2 NA19043.hp1 NA19043.hp2 NA20129.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008	a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0129 others(12): Show a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0129 a0001c0001t0001g0222 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0266 a0001c0001t0003g0176 a0001c0001t0003g0256 a0001c0001t0003g0275 a0001c0001t0004g0012 a0001c0001t0006g0284 a0001c0001t0007g0109 a0001c0001t0008g0006	17	57	0.2982	-21	c.25+ others(36): Show c.25+7794_25+7814delAAAAAAAAAAAAAAAAAAAAA		BEAN1	ENSG00000166546.15	transcript	ENST00000536005.7	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr16	TogoVar
BEND3_chr6_107060182_107120515	107082730	AGTGGTTG others(14): Show AGTGGTTGCTTTAAACTACTAG	A A	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0186 a0001c0001t0037g0186	1	366	0.0027	-21	c.241 others(40): Show c.241-11801_241-11781delCTAGTAGTTTAAAGCAACCAC		BEND3	ENSG00000178409.14	transcript	ENST00000369042.6	protein_coding	3/3						chr6	TogoVar
BEX5_chrX_102148712_102160977	102158141	CTTCTTCT others(14): Show CTTCTTCTTCTTCTTATTATTA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp2 HG03239.hp1 NA20129.hp2 HG02683.hp2 HG03239.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003	3	303	0.0099	-21	c.-24 others(32): Show c.-2408_-2388delTAATAATAAGAAGAAGAAGAA		BEX5	ENSG00000184515.11	transcript	ENST00000333643.4	protein_coding					2165		chrX	TogoVar
BEX5_chrX_102148712_102160977	102158144	CTTCTTCT others(14): Show CTTCTTCTTCTTATTATTATTA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp1 HG01258.hp1 HG01891.hp2 others(4): Show HG01257.hp1 HG01258.hp1 HG01891.hp2 HG02818.hp2 NA18999.hp1 NA19043.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003	7	293	0.0239	-21	c.-24 others(32): Show c.-2411_-2391delTAATAATAATAAGAAGAAGAA		BEX5	ENSG00000184515.11	transcript	ENST00000333643.4	protein_coding					2168		chrX	TogoVar
BEX5_chrX_102148712_102160977	102158147	CTTCTTCT others(14): Show CTTCTTCTTATTATTATTATTA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	295	0.0034	-21	c.-24 others(32): Show c.-2414_-2394delTAATAATAATAATAAGAAGAA		BEX5	ENSG00000184515.11	transcript	ENST00000333643.4	protein_coding					2171		chrX	TogoVar
BEX5_chrX_102148712_102160977	102158150	CTTCTTAT others(14): Show CTTCTTATTATTATTATTATTA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp1 NA18965.hp1 NA18966.hp1 others(2): Show HG02074.hp1 NA18965.hp1 NA18966.hp1 NA18990.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	5	289	0.0173	-21	c.-24 others(32): Show c.-2417_-2397delTAATAATAATAATAATAAGAA		BEX5	ENSG00000184515.11	transcript	ENST00000333643.4	protein_coding					2174		chrX	TogoVar
BEX5_chrX_102148712_102160977	102158153	CTTATTAT others(14): Show CTTATTATTATTATTATTATTA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 NA18959.hp1 NA18984.hp1 others(1): Show HG00099.hp1 NA18959.hp1 NA18984.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0001 a0001c0001t0001g0005	4	186	0.0215	-21	c.-24 others(32): Show c.-2420_-2400delTAATAATAATAATAATAATAA		BEX5	ENSG00000184515.11	transcript	ENST00000333643.4	protein_coding					2177		chrX	TogoVar
BICC1_chr10_58507872_58836435	58512996	GCGGCGGC others(14): Show GCGGCGGCGTTGGCGGTGGCGT	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0051 a0002c0002t0051	a0002c0002t0051g0084 a0002c0002t0051g0084	1	130	0.0077	-21	c.-14 others(30): Show c.-140_-120delGTTGGCGGTGGCGTCGGCGGC		BICC1	ENSG00000122870.12	transcript	ENST00000373886.8	protein_coding	1/21				120	INFO_REALIGN_3_PRIME	chr10	TogoVar
BICC1_chr10_58507872_58836435	58521768	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0017 a0006c0012t0017	a0006c0012t0017g0053 a0006c0012t0017g0053	1	6	0.1667	-21	c.190 others(38): Show c.190+8453_190+8473delTTTTTTTTTTTTTTTTTTTTT		BICC1	ENSG00000122870.12	transcript	ENST00000373886.8	protein_coding	1/20					INFO_REALIGN_3_PRIME	chr10	TogoVar
BICC1_chr10_58507872_58836435	58631489	TTCTTTCT others(14): Show TTCTTTCTTTTTTTTTGTGAAA	T T	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0018 a0002c0002t0018	a0002c0002t0018g0131 a0002c0002t0018g0131	1	130	0.0077	-21	c.237 others(40): Show c.237+10591_237+10611delTTTCTTTTTTTTTGTGAAATC		BICC1	ENSG00000122870.12	transcript	ENST00000373886.8	protein_coding	2/20					INFO_REALIGN_3_PRIME	chr10	TogoVar
BICC1_chr10_58507872_58836435	58642666	TTTATTAT others(14): Show TTTATTATTATTATTATTATTA	T T	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0036 a0002c0003t0036	a0002c0003t0036g0111 a0002c0003t0036g0111	1	2	0.5000	-21	c.237 others(40): Show c.237+21801_237+21821delATTATTATTATTATTATTATT		BICC1	ENSG00000122870.12	transcript	ENST00000373886.8	protein_coding	2/20					INFO_REALIGN_3_PRIME	chr10	TogoVar
BICC1_chr10_58507872_58836435	58756626	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00558.hp1 HG00639.hp1 others(65): Show HG00323.hp1 HG00558.hp1 HG00639.hp1 HG00639.hp2 HG00741.hp1 HG00741.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01167.hp1 HG01167.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01261.hp2 HG01358.hp1 HG01515.hp1 HG01517.hp2 HG01928.hp2 HG01981.hp2 HG02027.hp2 HG02040.hp2 HG02109.hp1 HG02132.hp1 HG02132.hp2 HG02257.hp1 HG02257.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02717.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03540.hp2 HG04115.hp2 HG06807.hp1 HG06807.hp2 NA18747.hp2 NA18906.hp1 NA18961.hp1 NA18961.hp2 NA18965.hp1 NA18972.hp2 NA18983.hp1 NA19060.hp1 NA19060.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0007	a0001c0001 a0002c0002 a0002c0003 others(3): Show a0001c0001 a0002c0002 a0002c0003 a0003c0004 a0004c0005 a0007c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(38): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0001t0012 a0001c0001t0021 a0001c0001t0023 a0001c0001t0037 a0001c0001t0045 a0001c0001t0048 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0006 a0002c0002t0008 a0002c0002t0009 a0002c0002t0010 a0002c0002t0011 a0002c0002t0017 a0002c0002t0018 a0002c0002t0020 a0002c0002t0035 a0002c0002t0049 a0002c0002t0051 a0002c0003t0009 a0002c0003t0016 a0002c0003t0022 a0002c0003t0025 a0002c0003t0031 a0002c0003t0036 a0002c0003t0042 a0003c0004t0034 a0003c0004t0043 a0004c0005t0004 a0004c0005t0029 a0004c0005t0033 a0004c0005t0052 a0007c0009t0030	a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0087 others(65): Show a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0087 a0001c0001t0001g0094 a0001c0001t0001g0100 a0001c0001t0001g0107 a0001c0001t0002g0008 a0001c0001t0002g0011 a0001c0001t0002g0013 a0001c0001t0002g0020 a0001c0001t0002g0024 a0001c0001t0002g0031 a0001c0001t0002g0044 a0001c0001t0003g0049 a0001c0001t0003g0052 a0001c0001t0003g0059 a0001c0001t0005g0005 a0001c0001t0005g0014 a0001c0001t0006g0079 a0001c0001t0007g0080 a0001c0001t0007g0106 a0001c0001t0007g0122 a0001c0001t0011g0070 a0001c0001t0011g0077 a0001c0001t0012g0018 a0001c0001t0012g0047 a0001c0001t0021g0035 a0001c0001t0023g0057 a0001c0001t0037g0113 a0001c0001t0045g0090 a0001c0001t0048g0076 a0002c0002t0003g0062 a0002c0002t0004g0028 a0002c0002t0004g0055 a0002c0002t0005g0029 a0002c0002t0005g0063 a0002c0002t0006g0078 a0002c0002t0008g0026 a0002c0002t0008g0041 a0002c0002t0009g0118 a0002c0002t0010g0097 a0002c0002t0010g0121 a0002c0002t0010g0123 a0002c0002t0011g0083 a0002c0002t0017g0061 a0002c0002t0018g0124 a0002c0002t0018g0131 a0002c0002t0020g0088 a0002c0002t0020g0101 a0002c0002t0035g0016 a0002c0002t0049g0132 a0002c0002t0051g0084 a0002c0003t0009g0104 a0002c0003t0009g0120 a0002c0003t0016g0050 a0002c0003t0016g0051 a0002c0003t0022g0058 a0002c0003t0025g0037 a0002c0003t0031g0039 a0002c0003t0036g0111 a0002c0003t0042g0114 a0003c0004t0034g0034 a0003c0004t0043g0112 a0004c0005t0004g0060 a0004c0005t0029g0009 a0004c0005t0033g0043 a0004c0005t0052g0092 a0007c0009t0030g0012	68	84	0.8095	-21	c.308 others(40): Show c.308-28363_308-28343delTTTTTTTTTTTTTTTTTTTTT		BICC1	ENSG00000122870.12	transcript	ENST00000373886.8	protein_coding	3/20					INFO_REALIGN_3_PRIME	chr10	TogoVar
BICD1_chr12_32101847_32388633	32384650	TTTCTTCT others(14): Show TTTCTTCTTCTCCTTCTCCTTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0101 a0001c0001t0035g0101	1	273	0.0037	-21	c.70 others(32): Show c.7024_*7044delTTCTTCTTCTCCTTCTCCTTC		BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding					1018		chr12	TogoVar
BICRAL_chr6_42777052_42873556	42845195	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00544.hp2 NA18960.hp2 HG00544.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0108 a0001c0001t0001g0078 a0001c0001t0001g0108	2	8	0.2500	-21	c.184 others(40): Show c.1840-6864_1840-6844delTTTTTTTTTTTTTTTTTTTTT		BICRAL	ENSG00000112624.14	transcript	ENST00000314073.10	protein_coding	6/12					INFO_REALIGN_3_PRIME	chr6	TogoVar
BID_chr22_17729138_17779469	17756411	TCTTTCTT others(14): Show TCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	360	0.0028	-21	c.-58 others(38): Show c.-58-6258_-58-6238delGAAAGAAAGAAAGAAAGAAAG		BID	ENSG00000015475.19	transcript	ENST00000622694.5	protein_coding	1/5						chr22	TogoVar
BIN1_chr2_127043032_127112154	127044215	TCACATTC others(14): Show TCACATTCACACTCACACATTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0232 a0001c0004t0001g0232	1	342	0.0029	-21	c.42 others(32): Show c.4290_*4310delGAATGTGTGAGTGTGAATGTG		BIN1	ENSG00000136717.15	transcript	ENST00000316724.10	protein_coding					3816		chr2	TogoVar
BLTP1_chr4_122147331_122367752	122321979	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0293 a0001c0001t0001g0293	1	11	0.0909	-21	c.109 others(42): Show c.10996-2432_10996-2412delTTTTTTTTTTTTTTTTTTTTT		BLTP1	ENSG00000138688.17	transcript	ENST00000679879.1	protein_coding	64/87					INFO_REALIGN_3_PRIME	chr4	TogoVar
BLVRB_chr19_40442768_40470745	40459327	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG02145.hp1 HG02809.hp2 others(4): Show HG01257.hp2 HG02145.hp1 HG02809.hp2 HG02897.hp1 HG02970.hp1 HG03516.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0068 a0001c0001t0001g0069 others(3): Show a0001c0001t0001g0007 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0189 a0001c0001t0001g0191	7	86	0.0814	-21	c.80- others(34): Show c.80-803_80-783delTTTTTTTTTTTTTTTTTTTTT		BLVRB	ENSG00000090013.11	transcript	ENST00000263368.9	protein_coding	1/4						chr19	TogoVar
BMERB1_chr16_15429588_15593259	15591957	TATATCTA others(14): Show TATATCTATATATAATATATAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp1 HG02280.hp1 HG02895.hp2 others(1): Show HG01496.hp1 HG02280.hp1 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0014 a0001c0004t0010 a0001c0001t0014 a0001c0004t0010	a0001c0001t0014g0009 a0001c0004t0010g0103 a0001c0004t0010g0105 others(1): Show a0001c0001t0014g0009 a0001c0004t0010g0103 a0001c0004t0010g0105 a0001c0004t0010g0107	4	287	0.0139	-21	c.51 others(32): Show c.5129_*5149delATATCTATATATAATATATAG		BMERB1	ENSG00000166780.11	transcript	ENST00000300006.9	protein_coding					3699		chr16	TogoVar
BMP6_chr6_7721099_7886728	7813109	ATATATAT others(14): Show ATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0004 a0003c0005t0004	a0003c0005t0004g0014 a0003c0005t0004g0014	1	292	0.0034	-21	c.665 others(40): Show c.665-32030_665-32010delTATATATATATATATATATAT		BMP6	ENSG00000153162.9	transcript	ENST00000283147.7	protein_coding	1/6						chr6	TogoVar
BMP7_chr20_57163753_57271641	57216549	CGAGGGGC others(14): Show CGAGGGGCTGTCTCCTGAGGGT	C C	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0050 a0001c0001t0003g0050	1	270	0.0037	-21	c.611 others(40): Show c.611+11659_611+11679delACCCTCAGGAGACAGCCCCTC		BMP7	ENSG00000101144.13	transcript	ENST00000395863.8	protein_coding	2/6						chr20	TogoVar
BMP7_chr20_57163753_57271641	57216597	GCTGTCTC others(14): Show GCTGTCTCCTGAGGGTGAGGGA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02145.hp2 HG03139.hp2 others(3): Show HG01109.hp2 HG02145.hp2 HG03139.hp2 HG03471.hp1 NA19030.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0004 a0001c0001t0006	a0001c0001t0004g0255 a0001c0001t0004g0256 a0001c0001t0006g0247 others(3): Show a0001c0001t0004g0255 a0001c0001t0004g0256 a0001c0001t0006g0247 a0001c0001t0006g0258 a0001c0001t0006g0259 a0001c0001t0006g0260	6	267	0.0225	-21	c.611 others(40): Show c.611+11611_611+11631delTCCCTCACCCTCAGGAGACAG		BMP7	ENSG00000101144.13	transcript	ENST00000395863.8	protein_coding	2/6						chr20	TogoVar
BMPER_chr7_33900539_34161427	34011584	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0112 a0001c0004t0004g0112	1	230	0.0043	-21	c.577 others(40): Show c.577-34712_577-34692delAAAAAAAAAAAGAAAAAAAAA		BMPER	ENSG00000164619.10	transcript	ENST00000649409.2	protein_coding	6/14					INFO_REALIGN_3_PRIME	chr7	TogoVar
BMPR1A_chr10_86751619_86932969	86790171	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAATAT	A A	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0037 a0001c0002t0037	a0001c0002t0037g0161 a0001c0002t0037g0161	1	276	0.0036	-21	c.-26 others(42): Show c.-268+33254_-268+33274delAAAAAAAAAAAAAAAAATATA		BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86790177	AAAAAAAA others(14): Show AAAAAAAAAAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0019 a0002c0001t0019	a0002c0001t0019g0139 a0002c0001t0019g0139	1	266	0.0038	-21	c.-26 others(42): Show c.-268+33260_-268+33280delAAAAAAAAAAATATATATATA		BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86790189	ATATATAT others(14): Show ATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0249 a0002c0001t0001g0249	1	206	0.0049	-21	c.-26 others(42): Show c.-268+33271_-268+33291delTATATATATATATATATATAT		BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding	1/12						chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86835549	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG03017.hp2 NA18970.hp2 HG01515.hp2 HG03017.hp2 NA18970.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0003 a0002c0001t0002 a0001c0002t0003 a0002c0001t0002	a0001c0002t0003g0090 a0002c0001t0002g0222 a0002c0001t0002g0226 a0001c0002t0003g0090 a0002c0001t0002g0222 a0002c0001t0002g0226	3	16	0.1875	-21	c.-26 others(40): Show c.-267-3297_-267-3277delAAAAAAAAAAAAAAAAAAAAA		BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr10	TogoVar

Search by Variant

Search

Search Results