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
PBK_chr8_27804624_27842817	27805287	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0154 a0001c0001t0007g0154	1	392	0.0026	26	c.49 others(37): Show c.4992_*5017dupTTTTTTTTTTTTTTTTTTTTTTTTTT	PBK	ENSG00000168078.10	transcript	ENST00000301905.9	protein_coding		4336		chr8	TogoVar
PBK_chr8_27804624_27842817	27816343	C C	CTATATAT others(19): Show CTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18999.hp1 NA18999.hp2 others(2): Show NA18747.hp2 NA18999.hp1 NA18999.hp2 NA19070.hp2 NA19075.hp1	a0002 a0008 a0002 a0008	a0002c0002 a0008c0013 a0002c0002 a0008c0013	a0002c0002t0002 a0008c0013t0002 a0002c0002t0002 a0008c0013t0002	a0002c0002t0002g0049 a0002c0002t0002g0064 a0002c0002t0002g0074 others(2): Show a0002c0002t0002g0049 a0002c0002t0002g0064 a0002c0002t0002g0074 a0002c0002t0002g0076 a0008c0013t0002g0075	5	392	0.0128	26	c.595 others(43): Show c.595+4221_595+4222insTATATATATATATATATATATATATA	PBK	ENSG00000168078.10	transcript	ENST00000301905.9	protein_coding	6/7			chr8	TogoVar
PBRM1_chr3_52540367_52690913	52542619	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0025 a0001c0001t0002g0025	1	300	0.0033	26	c.54 others(37): Show c.5443_*5444insTTTTTTTTTTTTTTTTTTTTTTTTTT	PBRM1	ENSG00000163939.19	transcript	ENST00000707071.1	protein_coding		2747		chr3	TogoVar
PBRM1_chr3_52540367_52690913	52636757	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01257.hp1 NA18947.hp2 HG01169.hp2 HG01257.hp1 NA18947.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0001 a0001c0002t0003	a0001c0002t0001g0209 a0001c0002t0003g0170 a0001c0002t0003g0202 a0001c0002t0001g0209 a0001c0002t0003g0170 a0001c0002t0003g0202	3	300	0.0100	26	c.108 others(45): Show c.1088-1968_1088-1943dupTTTTTTTTTTTTTTTTTTTTTTTTTT	PBRM1	ENSG00000163939.19	transcript	ENST00000707071.1	protein_coding	11/31			chr3	TogoVar
PBX1_chr1_164554184_164856831	164707418	T T	TGTGAGAG others(19): Show TGTGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0079 a0001c0001t0004g0079	1	184	0.0054	26	c.266 others(45): Show c.266-85075_266-85074insTGAGAGAGAGAGAGAGAGAGAGAGAG	PBX1	ENSG00000185630.20	transcript	ENST00000420696.7	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
PBX1_chr1_164554184_164856831	164716685	T T	TACACACA others(19): Show TACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01071.hp2 HG03942.hp2 others(1): Show HG00639.hp2 HG01071.hp2 HG03942.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0040 a0002c0002t0002 a0001c0001t0001 a0001c0001t0040 a0002c0002t0002	a0001c0001t0001g0082 a0001c0001t0040g0104 a0002c0002t0002g0105 others(1): Show a0001c0001t0001g0082 a0001c0001t0040g0104 a0002c0002t0002g0105 a0002c0002t0002g0141	4	184	0.0217	26	c.266 others(45): Show c.266-75789_266-75764dupCACACACACACACACACACACACACA	PBX1	ENSG00000185630.20	transcript	ENST00000420696.7	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
PBX2_chr6_32179733_32195202	32194596	G G	GTCTGTGG others(19): Show GTCTGTGGCCCAAGGGTTGGGGACCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0044 a0001c0001t0005g0044	1	435	0.0023	26	c.-47 others(37): Show c.-4707_-4682dupGGGGTCCCCAACCCTTGGGCCACAGA	PBX2	ENSG00000204304.12	transcript	ENST00000375050.6	protein_coding		4395		chr6	TogoVar
PCBP3_chr21_45638725_45947450	45646091	C C	CTCTCTCT others(19): Show CTCTCTCTCTCTCTCTCTCTCTCTCTT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0002 a0001c0001t0004g0002	1	292	0.0034	26	c.-27 others(45): Show c.-279+2240_-279+2241insCTCTCTCTTTCTCTCTCTCTCTCTCT	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45646093	C C	CTCTCTCT others(19): Show CTCTCTCTCTCTCTCTCTCTCTCTCTT	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0229 a0001c0001t0002g0229	1	292	0.0034	26	c.-27 others(45): Show c.-279+2240_-279+2241insCTCTCTCTCTTTCTCTCTCTCTCTCT	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45898293	G G	GCACACCG others(19): Show GCACACCGTCCTCACAGCCTCCCTCTA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00438.hp1 others(80): Show HG00280.hp1 HG00323.hp2 HG00438.hp1 HG00558.hp1 HG00639.hp2 HG01069.hp1 HG01070.hp2 HG01081.hp2 HG01167.hp2 HG01168.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp2 HG01361.hp1 HG01516.hp2 HG01891.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp2 HG02015.hp1 HG02040.hp2 HG02080.hp2 HG02165.hp2 HG02258.hp2 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02717.hp2 HG02886.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG03017.hp1 HG03017.hp2 HG03139.hp1 HG03209.hp1 HG03225.hp2 HG03239.hp2 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03540.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03710.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp2 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18941.hp2 NA18946.hp2 NA18959.hp1 NA18962.hp1 NA18969.hp1 NA18983.hp2 NA19002.hp1 NA19007.hp2 NA19009.hp2 NA19012.hp2 NA19030.hp1 NA19056.hp1 NA19065.hp2 NA19066.hp2 NA19068.hp2 NA19081.hp2 NA19087.hp2 NA19091.hp1 NA19240.hp1 NA20129.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0001c0004 a0003c0006 others(1): Show a0001c0001 a0001c0004 a0003c0006 a0007c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0018 a0001c0004t0002 a0003c0006t0002 a0007c0009t0002	a0001c0001t0001g0164 a0001c0001t0001g0288 a0001c0001t0002g0010 others(80): Show a0001c0001t0001g0164 a0001c0001t0001g0288 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0058 a0001c0001t0002g0060 a0001c0001t0002g0062 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0088 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0223 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0235 a0001c0001t0002g0237 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0259 a0001c0001t0002g0262 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0278 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0287 a0001c0001t0005g0260 a0001c0001t0005g0261 a0001c0001t0005g0273 a0001c0001t0005g0279 a0001c0001t0005g0280 a0001c0001t0005g0286 a0001c0001t0005g0292 a0001c0001t0007g0234 a0001c0001t0007g0238 a0001c0001t0007g0243 a0001c0001t0007g0244 a0001c0001t0007g0258 a0001c0001t0018g0266 a0001c0004t0002g0086 a0001c0004t0002g0087 a0003c0006t0002g0272 a0007c0009t0002g0277	83	292	0.2843	26	c.166 others(43): Show c.166-1290_166-1289insCCTCCCTCTACACACCGTCCTCACAG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45898688	C C	CCCCTCTA others(19): Show CCCCTCTACACACTGTCCTCCCAGCCT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03098.hp1 HG02559.hp2 HG03098.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0290 a0001c0003t0014g0291 a0001c0003t0014g0290 a0001c0003t0014g0291	2	292	0.0069	26	c.166 others(41): Show c.166-905_166-904insACACACTGTCCTCCCAGCCTCCCTCT	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45909792	C C	CCCCCCCA others(19): Show CCCCCCCACCCACTGCCCAGATACGGA	intron_variant intron_variant	MODIFIER	HG01175.hp2 NA19087.hp1 HG01175.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0173 a0001c0002t0001g0152 a0001c0001t0001g0173 a0001c0002t0001g0152	2	292	0.0069	26	c.471 others(41): Show c.471+312_471+313insACCCACTGCCCAGATACGGACCCCCC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45909792	C C	CCGGCCCA others(19): Show CCGGCCCACCCACTGCCCAGATACGGA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01255.hp1 HG00323.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0116 a0001c0001t0004g0117 a0001c0001t0004g0116 a0001c0001t0004g0117	2	292	0.0069	26	c.471 others(41): Show c.471+307_471+308insGGCCCACCCACTGCCCAGATACGGAC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45909798	C C	CCACCCAC others(19): Show CCACCCACTGCCCAGATACGGACCTGG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0035 a0001c0001t0003g0035	1	292	0.0034	26	c.471 others(41): Show c.471+313_471+314insACCCACTGCCCAGATACGGACCTGGC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCCA_chr13_100084093_100535435	100264196	C C	CGTATATA others(19): Show CGTATATATACGGTATCTGTATATCGT	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18947.hp2 NA18969.hp1 others(1): Show NA18945.hp1 NA18947.hp2 NA18969.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0144 others(1): Show a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0144 a0001c0001t0001g0145	4	174	0.0230	26	c.819 others(43): Show c.819+1365_819+1366insGTATATATACGGTATCTGTATATCGT	PCCA	ENSG00000175198.17	transcript	ENST00000376285.6	protein_coding	10/23			chr13	TogoVar
PCCA_chr13_100084093_100535435	100341957	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02572.hp2 HG02559.hp1 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0058 a0001c0001t0002g0171 a0001c0001t0001g0058 a0001c0001t0002g0171	2	174	0.0115	26	c.164 others(45): Show c.1643+1723_1643+1724insATATATATATATATATATATATATAT	PCCA	ENSG00000175198.17	transcript	ENST00000376285.6	protein_coding	18/23		INFO_REALIGN_3_PRIME	chr13	TogoVar
PCCA_chr13_100084093_100535435	100341973	A A	ATATATAT others(19): Show ATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	174	0.0058	26	c.164 others(45): Show c.1643+1723_1643+1724insATATATATATATATATGTATATATAT	PCCA	ENSG00000175198.17	transcript	ENST00000376285.6	protein_coding	18/23		INFO_REALIGN_3_PRIME	chr13	TogoVar
PCCA_chr13_100084093_100535435	100380032	A A	AACACACA others(19): Show AACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG03834.hp1 HG03942.hp1 HG02735.hp1 HG03834.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0005g0030 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0005g0030	3	174	0.0172	26	c.174 others(47): Show c.1746+11479_1746+11480insCACACACACACACACACACACACA CA	PCCA	ENSG00000175198.17	transcript	ENST00000376285.6	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr13	TogoVar
PCCA_chr13_100084093_100535435	100469211	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	174	0.0058	26	c.189 others(47): Show c.1899+19922_1899+19923insAAAAAAAAAAAAAAAAAAAAAAAA AA	PCCA	ENSG00000175198.17	transcript	ENST00000376285.6	protein_coding	21/23		INFO_REALIGN_3_PRIME	chr13	TogoVar
PCCA_chr13_100084093_100535435	100474440	T T	TTCTCTCT others(19): Show TTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	174	0.0058	26	c.189 others(47): Show c.1899+25139_1899+25164dupCTCTCTCTCTCTCTCTCTCTCTCT CT	PCCA	ENSG00000175198.17	transcript	ENST00000376285.6	protein_coding	21/23		INFO_REALIGN_3_PRIME	chr13	TogoVar
PCCA_chr13_100084093_100535435	100524374	C C	CGTGTGTG others(19): Show CGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	174	0.0058	26	c.204 others(45): Show c.2041-3288_2041-3263dupGTGTGTGTGTGTGTGTGTGTGTGTGT	PCCA	ENSG00000175198.17	transcript	ENST00000376285.6	protein_coding	22/23		INFO_REALIGN_3_PRIME	chr13	TogoVar
PCCB_chr3_136245340_136335169	136264440	G G	GTGTATAT others(19): Show GTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	300	0.0033	26	c.543 others(43): Show c.543+2376_543+2377insGTATATATATATATATATATATATAT	PCCB	ENSG00000114054.14	transcript	ENST00000251654.9	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PCDH11X_chrX_91774375_92628230	91945048	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01496.hp2 NA18952.hp1 NA18990.hp1 others(1): Show HG01496.hp2 NA18952.hp1 NA18990.hp1 NA19058.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0001c0001t0003 a0002c0004t0009 a0001c0001t0001 a0001c0001t0003 a0002c0004t0009	a0001c0001t0001g0042 a0001c0001t0001g0140 a0001c0001t0003g0036 others(1): Show a0001c0001t0001g0042 a0001c0001t0001g0140 a0001c0001t0003g0036 a0002c0004t0009g0041	4	154	0.0260	26	c.303 others(47): Show c.3033+65795_3033+65796insATATATATATATATATATATATAT AT	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	6/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11X_chrX_91774375_92628230	92111219	T T	TAAAAAAA others(19): Show TAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0077 a0001c0001t0003g0077	1	154	0.0065	26	c.303 others(47): Show c.3034-90149_3034-90124dupAAAAAAAAAAAAAAAAAAAAAAAA AA	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	6/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11X_chrX_91774375_92628230	92132622	A A	AATATATA others(19): Show AATATATATATATGTATATATATATAT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0143 a0001c0003t0002g0143	1	154	0.0065	26	c.303 others(47): Show c.3034-68744_3034-68719dupATATGTATATATATATATATATAT AT	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	6/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11X_chrX_91774375_92628230	92147837	T T	TTCTTTCT others(19): Show TTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0143 a0001c0003t0002g0143	1	154	0.0065	26	c.303 others(47): Show c.3034-53521_3034-53520insCTTTCTTTCTCTTTCTTTCTTTCT TT	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	6/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11X_chrX_91774375_92628230	92208508	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01192.hp1 HG03098.hp1 others(9): Show HG00621.hp1 HG01192.hp1 HG03098.hp1 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03490.hp1 NA18955.hp1 NA18971.hp1 NA19091.hp1 NA20129.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0001t0011	a0001c0001t0001g0073 a0001c0001t0001g0098 a0001c0001t0001g0129 others(9): Show a0001c0001t0001g0073 a0001c0001t0001g0098 a0001c0001t0001g0129 a0001c0001t0002g0078 a0001c0001t0002g0141 a0001c0001t0003g0077 a0001c0001t0003g0139 a0001c0001t0004g0063 a0001c0001t0006g0046 a0001c0001t0010g0136 a0001c0001t0010g0150 a0001c0001t0011g0147	12	154	0.0779	26	c.311 others(45): Show c.3114+7057_3114+7082dupTATATATATATATATATATATATATA	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	7/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11X_chrX_91774375_92628230	92326639	T T	TATATATA others(19): Show TATATATATAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	154	0.0065	26	c.314 others(47): Show c.3145-61095_3145-61094insTATATATAGAGAGAGAGAGAGAGA GA	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	8/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11X_chrX_91774375_92628230	92326639	T T	TATATATA others(19): Show TATATATATATAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG03239.hp1 NA19066.hp1 HG01106.hp1 HG03239.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0013 a0001c0001t0003 a0001c0001t0004 a0001c0001t0013	a0001c0001t0003g0139 a0001c0001t0004g0082 a0001c0001t0013g0097 a0001c0001t0003g0139 a0001c0001t0004g0082 a0001c0001t0013g0097	3	154	0.0195	26	c.314 others(47): Show c.3145-61095_3145-61094insTATATATATAGAGAGAGAGAGAGA GA	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	8/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11X_chrX_91774375_92628230	92326639	T T	TATATATA others(19): Show TATATATATATATAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01081.hp1 HG02602.hp1 HG00280.hp1 HG01081.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0020 a0001c0001t0026 a0001c0001t0001 a0001c0001t0020 a0001c0001t0026	a0001c0001t0001g0019 a0001c0001t0020g0149 a0001c0001t0026g0138 a0001c0001t0001g0019 a0001c0001t0020g0149 a0001c0001t0026g0138	3	154	0.0195	26	c.314 others(47): Show c.3145-61095_3145-61094insTATATATATATAGAGAGAGAGAGA GA	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	8/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11X_chrX_91774375_92628230	92326639	T T	TATATATA others(19): Show TATATATATATATATAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02040.hp1 NA18995.hp1 NA19079.hp1 HG02040.hp1 NA18995.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0113 a0001c0001t0001g0125 a0001c0001t0001g0071 a0001c0001t0001g0113 a0001c0001t0001g0125	3	154	0.0195	26	c.314 others(47): Show c.3145-61095_3145-61094insTATATATATATATAGAGAGAGAGA GA	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	8/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11X_chrX_91774375_92628230	92326639	T T	TATATATA others(19): Show TATATATATATATATATAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG03688.hp1 HG00673.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0031 a0001c0001t0010g0043 a0001c0001t0001g0031 a0001c0001t0010g0043	2	154	0.0130	26	c.314 others(47): Show c.3145-61095_3145-61094insTATATATATATATATAGAGAGAGA GA	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	8/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11X_chrX_91774375_92628230	92326639	T T	TATATATA others(19): Show TATATATATATATATATATAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG03490.hp1 HG00642.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0107 a0001c0001t0002g0141 a0001c0001t0001g0107 a0001c0001t0002g0141	2	154	0.0130	26	c.314 others(47): Show c.3145-61095_3145-61094insTATATATATATATATATAGAGAGA GA	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	8/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11X_chrX_91774375_92628230	92326639	T T	TATATATA others(19): Show TATATATATATATATATATATAGAGAG	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG02145.hp1 HG03041.hp1 HG01069.hp1 HG02145.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0006 a0001c0003t0001 a0001c0001t0002 a0001c0001t0006 a0001c0003t0001	a0001c0001t0002g0062 a0001c0001t0006g0053 a0001c0003t0001g0145 a0001c0001t0002g0062 a0001c0001t0006g0053 a0001c0003t0001g0145	3	154	0.0195	26	c.314 others(47): Show c.3145-61095_3145-61094insTATATATATATATATATATAGAGA GA	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	8/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11X_chrX_91774375_92628230	92375166	A A	ATATATAT others(19): Show ATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0147 a0001c0001t0011g0147	1	154	0.0065	26	c.314 others(47): Show c.3145-12568_3145-12567insATATATATATATATATATATTTTT TT	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	8/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11X_chrX_91774375_92628230	92375166	A A	ATATATAT others(19): Show ATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0050 a0001c0001t0005g0050	1	154	0.0065	26	c.314 others(47): Show c.3145-12568_3145-12567insATATATATATATATATATTTTTTT TT	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	8/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH15_chr10_53797771_54806231	53855904	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0016 a0002c0002t0005g0016	1	102	0.0098	26	c.380 others(45): Show c.3806+1270_3806+1271insTATATATATATATATATATATATATA	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	28/37			chr10	TogoVar
PCDH15_chr10_53797771_54806231	53888308	A A	ATATATAT others(19): Show ATATATATATATATATATATATGTACG	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02109.hp1 NA18906.hp1 HG02027.hp2 HG02109.hp1 NA18906.hp1	a0002 a0004 a0008 a0002 a0004 a0008	a0002c0002 a0004c0004 a0008c0007 a0002c0002 a0004c0004 a0008c0007	a0002c0002t0004 a0004c0004t0002 a0008c0007t0003 a0002c0002t0004 a0004c0004t0002 a0008c0007t0003	a0002c0002t0004g0041 a0004c0004t0002g0096 a0008c0007t0003g0065 a0002c0002t0004g0041 a0004c0004t0002g0096 a0008c0007t0003g0065	3	102	0.0294	26	c.350 others(47): Show c.3501+14934_3501+14935insCGTACATATATATATATATATATA TA	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	26/37			chr10	TogoVar
PCDH15_chr10_53797771_54806231	54113639	G G	GACACACA others(19): Show GACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01884.hp2 NA18906.hp2 NA19043.hp2 HG01884.hp2 NA18906.hp2 NA19043.hp2	a0002 a0003 a0017 a0002 a0003 a0017	a0002c0002 a0003c0003 a0017c0024 a0002c0002 a0003c0003 a0017c0024	a0002c0002t0023 a0003c0003t0001 a0017c0024t0001 a0002c0002t0023 a0003c0003t0001 a0017c0024t0001	a0002c0002t0023g0034 a0003c0003t0001g0009 a0017c0024t0001g0053 a0002c0002t0023g0034 a0003c0003t0001g0009 a0017c0024t0001g0053	3	102	0.0294	26	c.191 others(47): Show c.1917+19235_1917+19236insGTGTGTGTGTGTGTGTGTGTGTGT GT	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	15/37			chr10	TogoVar
PCDH15_chr10_53797771_54806231	54239432	T T	TATAGAGA others(19): Show TATAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0020 a0020	a0020c0029 a0020c0029	a0020c0029t0011 a0020c0029t0011	a0020c0029t0011g0099 a0020c0029t0011g0099	1	102	0.0098	26	c.877 others(43): Show c.877-2502_877-2501insCTCTCTCTCTCTCTCTCTCTCTCTAT	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	8/37			chr10	TogoVar
PCDH15_chr10_53797771_54806231	54239432	T T	TATATAGA others(19): Show TATATAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0032 a0032	a0032c0036 a0032c0036	a0032c0036t0004 a0032c0036t0004	a0032c0036t0004g0061 a0032c0036t0004g0061	1	102	0.0098	26	c.877 others(43): Show c.877-2502_877-2501insCTCTCTCTCTCTCTCTCTCTCTATAT	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	8/37			chr10	TogoVar
PCDH15_chr10_53797771_54806231	54262950	T T	TTGCAAGC others(19): Show TTGCAAGCTGGGCTGAAAATCACGGGC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG02258.hp1 HG02486.hp2 others(4): Show HG01069.hp2 HG02258.hp1 HG02486.hp2 HG03209.hp2 HG03471.hp2 HG03540.hp2 NA19043.hp2	a0002 a0005 a0012 others(4): Show a0002 a0005 a0012 a0019 a0020 a0028 a0032	a0002c0002 a0005c0005 a0012c0035 others(4): Show a0002c0002 a0005c0005 a0012c0035 a0019c0019 a0020c0029 a0028c0011 a0032c0036	a0002c0002t0023 a0005c0005t0004 a0012c0035t0005 others(4): Show a0002c0002t0023 a0005c0005t0004 a0012c0035t0005 a0019c0019t0015 a0020c0029t0011 a0028c0011t0012 a0032c0036t0004	a0002c0002t0023g0034 a0005c0005t0004g0076 a0012c0035t0005g0100 others(4): Show a0002c0002t0023g0034 a0005c0005t0004g0076 a0012c0035t0005g0100 a0019c0019t0015g0001 a0020c0029t0011g0099 a0028c0011t0012g0086 a0032c0036t0004g0061	7	102	0.0686	26	c.877 others(45): Show c.877-26020_877-26019insGCCCGTGATTTTCAGCCCAGCTTGCA	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	8/37			chr10	TogoVar
PCDH15_chr10_53797771_54806231	54421914	A A	ATATATAT others(19): Show ATATATATATACACTATATATATACAC	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0068 a0007c0010t0001g0068	1	102	0.0098	26	c.158 others(45): Show c.158-42973_158-42972insGTGTATATATATAGTGTATATATATA	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	3/37			chr10	TogoVar
PCDH15_chr10_53797771_54806231	54697515	G G	GTGTATAT others(19): Show GTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03579.hp1 HG03486.hp1 HG03579.hp1	a0030 a0033 a0030 a0033	a0030c0025 a0033c0037 a0030c0025 a0033c0037	a0030c0025t0007 a0033c0037t0013 a0030c0025t0007 a0033c0037t0013	a0030c0025t0007g0079 a0033c0037t0013g0062 a0030c0025t0007g0079 a0033c0037t0013g0062	2	102	0.0196	26	c.-28 others(45): Show c.-28-33226_-28-33225insTATATATATATATATATATATATACA	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	1/37			chr10	TogoVar
PCDH15_chr10_53797771_54806231	54697655	A A	AGGAAGGG others(19): Show AGGAAGGGGAAGGGGGAAGGGGAAGGG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00741.hp1 HG03942.hp1 others(1): Show HG00738.hp1 HG00741.hp1 HG03942.hp1 HG04184.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0001c0042 a0011c0038 a0001c0001 a0001c0042 a0011c0038	a0001c0001t0001 a0001c0001t0003 a0001c0042t0016 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0042t0016 a0011c0038t0001	a0001c0001t0001g0039 a0001c0001t0003g0010 a0001c0042t0016g0002 others(1): Show a0001c0001t0001g0039 a0001c0001t0003g0010 a0001c0042t0016g0002 a0011c0038t0001g0040	4	102	0.0392	26	c.-28 others(45): Show c.-28-33391_-28-33366dupCCCTTCCCCTTCCCCCTTCCCCTTCC	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	1/37			chr10	TogoVar
PCDH15_chr10_53797771_54806231	54731563	T T	TATATATA others(19): Show TATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0017 a0017	a0017c0024 a0017c0024	a0017c0024t0001 a0017c0024t0001	a0017c0024t0001g0053 a0017c0024t0001g0053	1	102	0.0098	26	c.-28 others(45): Show c.-28-67274_-28-67273insGTGTGTATATATATATATATATATAT	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	1/37			chr10	TogoVar
PCDH15_chr10_53797771_54806231	54731563	T T	TATATATA others(19): Show TATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG06807.hp1 HG01243.hp1 HG06807.hp1	a0002 a0016 a0002 a0016	a0002c0002 a0016c0020 a0002c0002 a0016c0020	a0002c0002t0007 a0016c0020t0007 a0002c0002t0007 a0016c0020t0007	a0002c0002t0007g0038 a0016c0020t0007g0083 a0002c0002t0007g0038 a0016c0020t0007g0083	2	102	0.0196	26	c.-28 others(45): Show c.-28-67274_-28-67273insGTGTATATATATATATATATATATAT	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	1/37			chr10	TogoVar
PCDH15_chr10_53797771_54806231	54731563	T T	TATATATA others(19): Show TATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01175.hp2 HG01261.hp2 others(5): Show HG01167.hp2 HG01175.hp2 HG01261.hp2 HG01934.hp2 HG03209.hp1 HG03225.hp2 NA18945.hp2 NA20905.hp2	a0001 a0004 a0006 others(2): Show a0001 a0004 a0006 a0008 a0029	a0001c0001 a0004c0004 a0006c0006 others(2): Show a0001c0001 a0004c0004 a0006c0006 a0008c0007 a0029c0026	a0001c0001t0020 a0004c0004t0005 a0006c0006t0002 others(4): Show a0001c0001t0020 a0004c0004t0005 a0006c0006t0002 a0006c0006t0005 a0006c0006t0010 a0008c0007t0002 a0029c0026t0008	a0001c0001t0020g0095 a0004c0004t0005g0024 a0004c0004t0005g0025 others(5): Show a0001c0001t0020g0095 a0004c0004t0005g0024 a0004c0004t0005g0025 a0006c0006t0002g0050 a0006c0006t0005g0055 a0006c0006t0010g0030 a0008c0007t0002g0011 a0029c0026t0008g0081	8	102	0.0784	26	c.-28 others(45): Show c.-28-67274_-28-67273insGTATATATATATATATATATATATAT	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	1/37			chr10	TogoVar
PCDH15_chr10_53797771_54806231	54731563	T T	TATATATA others(19): Show TATATATATATATATATATATATATGC	intron_variant intron_variant	MODIFIER	HG03492.hp1 NA20905.hp1 HG03492.hp1 NA20905.hp1	a0002 a0003 a0002 a0003	a0002c0039 a0003c0003 a0002c0039 a0003c0003	a0002c0039t0001 a0003c0003t0003 a0002c0039t0001 a0003c0003t0003	a0002c0039t0001g0073 a0003c0003t0003g0033 a0002c0039t0001g0073 a0003c0003t0003g0033	2	102	0.0196	26	c.-28 others(45): Show c.-28-67274_-28-67273insGCATATATATATATATATATATATAT	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	1/37			chr10	TogoVar
PCDH15_chr10_53797771_54806231	54779488	G G	GTATATAT others(19): Show GTATATATATACACACATATGTGTGTA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0025 a0025	a0025c0027 a0025c0027	a0025c0027t0001 a0025c0027t0001	a0025c0027t0001g0080 a0025c0027t0001g0080	1	102	0.0098	26	c.-29 others(45): Show c.-29+21436_-29+21437insTACACACATATGTGTGTATATATATA	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	1/37			chr10	TogoVar

Search by Variant

Search

Search Results