Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CD83_chr6_14112772_14141906	14140508	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp2 HG02602.hp2 NA18949.hp1 HG02015.hp2 HG02602.hp2 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0017 a0001c0001t0001g0073 a0001c0001t0002g0024 a0001c0001t0001g0017 a0001c0001t0001g0073 a0001c0001t0002g0024	3	438	0.0069	36	c.52 others(47): Show c.5272_*5273insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	CD83	ENSG00000112149.10	transcript	ENST00000379153.4	protein_coding		3603		chr6	TogoVar
CD8B_chr2_86833167_86866886	86833639	C C	CCCTCCCT others(29): Show CCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0198 a0002c0003t0003g0198	1	392	0.0026	36	c.86 others(47): Show c.8667_*8668insAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGA GG	CD8B	ENSG00000172116.23	transcript	ENST00000390655.12	protein_coding		4527		chr2	TogoVar
CD8B_chr2_86833167_86866886	86833639	C C	CCCTCCCT others(29): Show CCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG01496.hp1 HG02615.hp1 others(7): Show HG00642.hp2 HG01496.hp1 HG02615.hp1 HG02738.hp2 HG03209.hp2 HG03579.hp1 NA18949.hp1 NA19089.hp2 NA19091.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0003 a0001c0001 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0043 a0001c0001t0045 a0001c0004t0004 a0002c0003t0003	a0001c0001t0001g0136 a0001c0001t0004g0110 a0001c0001t0005g0028 others(7): Show a0001c0001t0001g0136 a0001c0001t0004g0110 a0001c0001t0005g0028 a0001c0001t0006g0026 a0001c0001t0043g0082 a0001c0001t0045g0149 a0001c0004t0004g0216 a0002c0003t0003g0201 a0002c0003t0003g0202 a0002c0003t0003g0205	10	392	0.0255	36	c.86 others(47): Show c.8667_*8668insAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGA GG	CD8B	ENSG00000172116.23	transcript	ENST00000390655.12	protein_coding		4527		chr2	TogoVar
CD8B_chr2_86833167_86866886	86833639	C C	CCCTCCCT others(29): Show CCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG01928.hp1 HG01070.hp2 HG01928.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0043 a0002c0003t0003g0211 a0002c0003t0003g0043 a0002c0003t0003g0211	2	392	0.0051	36	c.86 others(47): Show c.8667_*8668insAAGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGGA GG	CD8B	ENSG00000172116.23	transcript	ENST00000390655.12	protein_coding		4527		chr2	TogoVar
CD8B_chr2_86833167_86866886	86833639	C C	CCCTCCCT others(29): Show CCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00544.hp2 NA18971.hp2 others(1): Show HG00423.hp2 HG00544.hp2 NA18971.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0040 a0001c0001t0004 a0001c0001t0040	a0001c0001t0004g0012 a0001c0001t0040g0150 a0001c0001t0004g0012 a0001c0001t0040g0150	4	392	0.0102	36	c.86 others(47): Show c.8667_*8668insAAGGAAGGAAGGAAGGAAGGGAGGGAGGGAGGGA GG	CD8B	ENSG00000172116.23	transcript	ENST00000390655.12	protein_coding		4527		chr2	TogoVar
CD8B_chr2_86833167_86866886	86837435	T T	TGGGAGGA others(29): Show TGGGAGGACTCCAGGAACCAGTGACTCACAGTTCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0046 a0001c0004t0001g0046	1	392	0.0026	36	c.48 others(47): Show c.4836_*4871dupGGGGAACTGTGAGTCACTGGTTCCTGGAGTCCTC CC	CD8B	ENSG00000172116.23	transcript	ENST00000390655.12	protein_coding		731		chr2	TogoVar
CDADC1_chr13_49242925_49298485	49293883	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG03927.hp1 HG00639.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0341 a0001c0001t0005g0196 a0001c0001t0002g0341 a0001c0001t0005g0196	2	368	0.0054	36	c.21 others(47): Show c.2126_*2127insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	CDADC1	ENSG00000102543.14	transcript	ENST00000251108.10	protein_coding		399		chr13	TogoVar
CDA_chr1_20584097_20623903	20608426	T T	TTTGTTTT others(29): Show TTTGTTTTGTTTTGTTTTGCTTTGTTTTTGTTTTGTG	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	418	0.0024	36	c.266 others(53): Show c.266+3388_266+3389insTGTTTTGTTTTGTTTTGCTTTGTTTTTG TTTTGTGT	CDA	ENSG00000158825.6	transcript	ENST00000375071.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
CDC14A_chr1_100347506_100525277	100412696	T T	TTTTATAT others(29): Show TTTTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0075 a0001c0002t0001g0075	1	306	0.0033	36	c.310 others(55): Show c.310-11525_310-11524insTTATATATATATATATATATATATAT ATATATATAT	CDC14A	ENSG00000079335.20	transcript	ENST00000336454.5	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
CDC14A_chr1_100347506_100525277	100412710	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0126 a0001c0003t0003g0126	1	306	0.0033	36	c.310 others(55): Show c.310-11499_310-11498insATATATATATATATATATATATTTAT ATATATATAT	CDC14A	ENSG00000079335.20	transcript	ENST00000336454.5	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
CDC14A_chr1_100347506_100525277	100420063	C C	CACACACA others(29): Show CACACACACACACACATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0008 a0001c0004t0008	a0001c0004t0008g0243 a0001c0004t0008g0243	1	306	0.0033	36	c.310 others(53): Show c.310-4158_310-4157insCACACACACACACATATATATATATATA TATATATA	CDC14A	ENSG00000079335.20	transcript	ENST00000336454.5	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
CDC14A_chr1_100347506_100525277	100420063	C C	CACACACA others(29): Show CACACACATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02965.hp1 HG03471.hp2 HG00099.hp2 HG02965.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0002 a0001c0002t0001 a0001c0004t0003 a0001c0001t0002 a0001c0002t0001 a0001c0004t0003	a0001c0001t0002g0131 a0001c0002t0001g0070 a0001c0004t0003g0062 a0001c0001t0002g0131 a0001c0002t0001g0070 a0001c0004t0003g0062	3	306	0.0098	36	c.310 others(53): Show c.310-4158_310-4157insCACACATATATATATATATATATATATA TATATATA	CDC14A	ENSG00000079335.20	transcript	ENST00000336454.5	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
CDC34_chr19_526760_547087	540383	C C	CCCCCAGG others(29): Show CCCCCAGGTTTAGAATCCGGAGGCCGGGGTGGCCAGG	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01123.hp2 HG01255.hp2 others(16): Show HG01099.hp2 HG01123.hp2 HG01255.hp2 HG01256.hp2 HG01515.hp2 HG01517.hp1 HG01943.hp2 HG02165.hp2 HG02559.hp1 HG02602.hp1 HG02735.hp2 HG03209.hp1 HG03688.hp2 NA18522.hp2 NA18960.hp1 NA18964.hp1 NA19043.hp1 NA20129.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0004 a0001c0001t0001g0022 a0001c0001t0001g0027 others(5): Show a0001c0001t0001g0004 a0001c0001t0001g0022 a0001c0001t0001g0027 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0009g0086	19	328	0.0579	36	c.498 others(51): Show c.498-952_498-951insAGGTTTAGAATCCGGAGGCCGGGGTGGCCA GGCCCC	CDC34	ENSG00000099804.9	transcript	ENST00000215574.9	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CDC34_chr19_526760_547087	540421	C C	CCCCCAGG others(29): Show CCCCCAGGTTTAGAATCCGGAGGCCGGGGTGGCCAGG	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0084 a0001c0001t0008g0084	1	328	0.0031	36	c.498 others(51): Show c.498-914_498-913insAGGTTTAGAATCCGGAGGCCGGGGTGGCCA GGCCCC	CDC34	ENSG00000099804.9	transcript	ENST00000215574.9	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CDC34_chr19_526760_547087	540421	C C	CCCCCGGG others(29): Show CCCCCGGGTTTAGAATCCAGAGGCTGGGATGGCCAGG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01070.hp2 HG01952.hp2 others(8): Show HG00423.hp1 HG01070.hp2 HG01952.hp2 HG02083.hp1 HG02293.hp1 NA18979.hp2 NA19004.hp1 NA19005.hp2 NA19010.hp2 NA19067.hp2 NA19091.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0002 a0002c0004t0002 a0001c0001t0002 a0002c0004t0002	a0001c0001t0002g0012 a0001c0001t0002g0037 a0001c0001t0002g0131 others(4): Show a0001c0001t0002g0012 a0001c0001t0002g0037 a0001c0001t0002g0131 a0001c0001t0002g0138 a0001c0001t0002g0159 a0001c0001t0002g0172 a0002c0004t0002g0160	11	328	0.0335	36	c.498 others(51): Show c.498-914_498-913insGGGTTTAGAATCCAGAGGCTGGGATGGCCA GGCCCC	CDC34	ENSG00000099804.9	transcript	ENST00000215574.9	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CDC42BPA_chr1_226984865_227323492	227042297	G G	GAGATATA others(29): Show GAGATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp2 HG01168.hp1 HG01169.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0008 a0001c0006t0008	a0001c0006t0008g0321 a0001c0006t0008g0322 a0001c0006t0008g0321 a0001c0006t0008g0322	2	352	0.0057	36	c.309 others(55): Show c.3094-2062_3094-2061insATATATATATATATATATATATATAT ATATATATCT	CDC42BPA	ENSG00000143776.20	transcript	ENST00000366766.8	protein_coding	23/36			chr1	TogoVar
CDC42BPA_chr1_226984865_227323492	227179635	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0289 a0001c0005t0004g0289	1	352	0.0028	36	c.599 others(55): Show c.599+14150_599+14151insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	CDC42BPA	ENSG00000143776.20	transcript	ENST00000366766.8	protein_coding	5/36			chr1	TogoVar
CDC42BPA_chr1_226984865_227323492	227268671	T T	TATATATG others(29): Show TATATATGTATATATATATATATGTATATATATATAC	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp2 HG01168.hp1 HG01169.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0008 a0001c0006t0008	a0001c0006t0008g0321 a0001c0006t0008g0322 a0001c0006t0008g0321 a0001c0006t0008g0322	2	352	0.0057	36	c.179 others(55): Show c.179-14517_179-14516insGTATATATATATACATATATATATAT ATACATATAT	CDC42BPA	ENSG00000143776.20	transcript	ENST00000366766.8	protein_coding	1/36			chr1	TogoVar
CDC42BPB_chr14_102927380_103062549	103016473	G G	GCAGGTGA others(29): Show GCAGGTGAGGGGAGGGAACCAGGTGAGGGGAGGGAAC	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG03942.hp1 HG02273.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0003 a0001c0001t0002 a0001c0002t0003	a0001c0001t0002g0227 a0001c0002t0003g0147 a0001c0001t0002g0227 a0001c0002t0003g0147	2	320	0.0063	36	c.176 others(53): Show c.176-4321_176-4286dupGTTCCCTCCCCTCACCTGGTTCCCTCCC CTCACCTG	CDC42BPB	ENSG00000198752.11	transcript	ENST00000361246.7	protein_coding	1/36			chr14	TogoVar
CDC42BPB_chr14_102927380_103062549	103051149	T T	TGGGGCGG others(29): Show TGGGGCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0312 a0001c0001t0026g0312	1	320	0.0031	36	c.175 others(53): Show c.175+5849_175+5850insCCCCCCCCCCCCCCCCCCCCCCCCCCCC CCCGCCCC	CDC42BPB	ENSG00000198752.11	transcript	ENST00000361246.7	protein_coding	1/36			chr14	TogoVar
CDC42EP5_chr19_54460026_54478296	54468920	C C	CTTCCTTC others(29): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02145.hp2 HG02886.hp1 others(7): Show HG02055.hp1 HG02145.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG03130.hp1 HG03209.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0009 a0001c0001t0001g0212 a0001c0001t0003g0020 others(1): Show a0001c0001t0001g0009 a0001c0001t0001g0212 a0001c0001t0003g0020 a0001c0001t0003g0059	10	421	0.0238	36	c.-1+ others(51): Show c.-1+2624_-1+2625insAGAAAGAAAGAAGGAAGGAAGGAAGGAAGG AAGGAA	CDC42EP5	ENSG00000167617.3	transcript	ENST00000301200.3	protein_coding	2/2			chr19	TogoVar
CDC42EP5_chr19_54460026_54478296	54468920	C C	CTTCCTTC others(29): Show CTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00438.hp2 others(30): Show HG00140.hp2 HG00323.hp1 HG00438.hp2 HG00597.hp1 HG00621.hp2 HG00738.hp1 HG01168.hp1 HG01169.hp2 HG01496.hp2 HG01952.hp1 HG01978.hp1 HG02004.hp1 HG02080.hp2 HG02300.hp2 HG02523.hp1 HG02630.hp1 HG03490.hp2 HG03492.hp2 HG04184.hp1 NA18947.hp1 NA18947.hp2 NA18956.hp1 NA18963.hp1 NA18963.hp2 NA18967.hp2 NA18973.hp1 NA18980.hp1 NA18981.hp2 NA18988.hp1 NA18998.hp1 NA19066.hp1 NA19074.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0031 others(13): Show a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0031 a0001c0001t0001g0055 a0001c0001t0001g0071 a0001c0001t0001g0115 a0001c0001t0001g0123 a0001c0001t0001g0151 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0218	33	421	0.0784	36	c.-1+ others(51): Show c.-1+2624_-1+2625insAGAAAGAAAGAAAGAAGGAAGGAAGGAAGG AAGGAA	CDC42EP5	ENSG00000167617.3	transcript	ENST00000301200.3	protein_coding	2/2			chr19	TogoVar
CDC42EP5_chr19_54460026_54478296	54468920	C C	CTTCCTTC others(29): Show CTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00597.hp2 HG02080.hp1 others(6): Show HG00544.hp2 HG00597.hp2 HG02080.hp1 HG03491.hp1 HG03831.hp2 HG04228.hp1 NA18946.hp2 NA19064.hp2 NA19084.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0008 a0001c0001 a0007c0008	a0001c0001t0001 a0007c0008t0001 a0001c0001t0001 a0007c0008t0001	a0001c0001t0001g0015 a0001c0001t0001g0077 a0001c0001t0001g0170 others(3): Show a0001c0001t0001g0015 a0001c0001t0001g0077 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0201 a0007c0008t0001g0169	9	421	0.0214	36	c.-1+ others(51): Show c.-1+2624_-1+2625insAGAAAGAAAGAAAGAAAGAAGGAAGGAAGG AAGGAA	CDC42EP5	ENSG00000167617.3	transcript	ENST00000301200.3	protein_coding	2/2			chr19	TogoVar
CDC42EP5_chr19_54460026_54478296	54472514	T T	TCCTCCTC others(29): Show TCCTCCTCCCTCAGACCCAGGAATCCAGGCCCCATCC	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	421	0.0024	36	c.-14 others(53): Show c.-142+549_-142+550insGGATGGGGCCTGGATTCCTGGGTCTGAG GGAGGAGG	CDC42EP5	ENSG00000167617.3	transcript	ENST00000301200.3	protein_coding	1/2			chr19	TogoVar
CDC5L_chr6_44382706_44455425	44411637	A A	AGAGAGAG others(29): Show AGAGAGAGAGAGAGAGAGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02040.hp1 NA19010.hp1 HG02040.hp1 NA19010.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0303 a0001c0002t0002g0326 a0001c0002t0002g0303 a0001c0002t0002g0326	2	352	0.0057	36	c.109 others(55): Show c.1092+3006_1092+3007insAGAGAGAGAGAGAGAGTGTGTGTGTG TGTGTGTGTG	CDC5L	ENSG00000096401.8	transcript	ENST00000371477.4	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDC5L_chr6_44382706_44455425	44411637	A A	AGAGAGAG others(29): Show AGAGAGAGAGAGAGAGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02622.hp2 HG02723.hp2 others(2): Show HG00741.hp1 HG02622.hp2 HG02723.hp2 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0255 a0001c0005t0002g0256 a0001c0005t0002g0257 others(2): Show a0001c0005t0002g0255 a0001c0005t0002g0256 a0001c0005t0002g0257 a0001c0005t0002g0258 a0001c0005t0002g0260	5	352	0.0142	36	c.109 others(55): Show c.1092+3006_1092+3007insAGAGAGAGAGAGAGTGTGTGTGTGTG TGTGTGTGTG	CDC5L	ENSG00000096401.8	transcript	ENST00000371477.4	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDC5L_chr6_44382706_44455425	44411637	A A	AGAGAGAG others(29): Show AGAGAGAGAGAGAGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02717.hp1 NA19091.hp2 HG02717.hp1 NA19091.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0002 a0001c0005t0031 a0001c0002t0002 a0001c0005t0031	a0001c0002t0002g0298 a0001c0005t0031g0261 a0001c0002t0002g0298 a0001c0005t0031g0261	2	352	0.0057	36	c.109 others(55): Show c.1092+3006_1092+3007insAGAGAGAGAGAGTGTGTGTGTGTGTG TGTGTGTGTG	CDC5L	ENSG00000096401.8	transcript	ENST00000371477.4	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDC73_chr1_193117031_193259815	193225245	G G	GATATATA others(29): Show GATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0109 a0001c0001t0015g0109	1	274	0.0037	36	c.115 others(55): Show c.1155-7720_1155-7719insATATATATATATATATATATATATAT ATATATATAT	CDC73	ENSG00000134371.14	transcript	ENST00000367435.5	protein_coding	13/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
CDH12_chr5_21745673_22858344	21880616	C C	CTTCCTTC others(29): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTCTCT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0025 a0001c0002t0025	a0001c0002t0025g0019 a0001c0002t0025g0019	1	60	0.0167	36	c.527 others(55): Show c.527-25827_527-25826insAGAGAGAAAGAAGGAAGGAAGGAAGG AAGGAAGGAA	CDH12	ENSG00000154162.15	transcript	ENST00000382254.6	protein_coding	6/14			chr5	TogoVar
CDH12_chr5_21745673_22858344	21880616	C C	CTTCCTTC others(29): Show CTTCCTTCCTTCCTTCCTTCCTTCTTTCTCTCTTTCT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0010 a0001c0001t0018g0010	1	60	0.0167	36	c.527 others(55): Show c.527-25827_527-25826insAGAAAGAGAGAAAGAAGGAAGGAAGG AAGGAAGGAA	CDH12	ENSG00000154162.15	transcript	ENST00000382254.6	protein_coding	6/14			chr5	TogoVar
CDH12_chr5_21745673_22858344	22532350	G G	GATATATA others(29): Show GATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0027 a0001c0002t0027	a0001c0002t0027g0036 a0001c0002t0027g0036	1	60	0.0167	36	c.-52 others(57): Show c.-522-26987_-522-26986insATATATATATATATATATATATAT ATATATATATAT	CDH12	ENSG00000154162.15	transcript	ENST00000382254.6	protein_coding	1/14			chr5	TogoVar
CDH13_chr16_82621969_83805640	82787841	A A	AGTGTGTG others(29): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03209.hp1 HG03516.hp2 others(1): Show HG02647.hp1 HG03209.hp1 HG03516.hp2 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0001t0008 a0001c0001t0024 others(1): Show a0001c0001t0005 a0001c0001t0008 a0001c0001t0024 a0001c0002t0010	a0001c0001t0005g0106 a0001c0001t0008g0052 a0001c0001t0024g0018 others(1): Show a0001c0001t0005g0106 a0001c0001t0008g0052 a0001c0001t0024g0018 a0001c0002t0010g0064	4	110	0.0364	36	c.46- others(53): Show c.46-70510_46-70509insTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTG	CDH13	ENSG00000140945.17	transcript	ENST00000567109.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CDH13_chr16_82621969_83805640	83102911	C C	CTTTTTTT others(29): Show CTTTTTTTTTCTTTTTCTTTTTTTTTTTTCTTTTTCT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03516.hp2 HG01884.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0025 a0001c0001t0008 a0001c0001t0025	a0001c0001t0008g0052 a0001c0001t0025g0071 a0001c0001t0008g0052 a0001c0001t0025g0071	2	110	0.0182	36	c.367 others(55): Show c.367-22465_367-22464insCTTTTTCTTTTTTTTTTTTCTTTTTC TTTTTTTTTT	CDH13	ENSG00000140945.17	transcript	ENST00000567109.6	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CDH13_chr16_82621969_83805640	83216427	T T	TATATAAA others(29): Show TATATAAATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0025 a0001c0002t0001g0025	1	110	0.0091	36	c.484 others(51): Show c.484-913_484-912insAATATATATATATATATATATATATATATA AATATA	CDH13	ENSG00000140945.17	transcript	ENST00000567109.6	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CDH13_chr16_82621969_83805640	83379938	T T	TATATATA others(29): Show TATATATATATATATATATATATATAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0029 a0001c0006t0029	a0001c0006t0029g0051 a0001c0006t0029g0051	1	110	0.0091	36	c.781 others(55): Show c.781+34933_781+34934insTATATATATATATATATATATATAGA GAGAGAGAGA	CDH13	ENSG00000140945.17	transcript	ENST00000567109.6	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CDH13_chr16_82621969_83805640	83508055	A A	AGAAGGAA others(29): Show AGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	110	0.0091	36	c.960 others(55): Show c.960+21408_960+21443dupGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAA	CDH13	ENSG00000140945.17	transcript	ENST00000567109.6	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CDH13_chr16_82621969_83805640	83570840	T T	TTATATAT others(29): Show TTATATATATAAATATAAATATATTTATATATTTATA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp1 HG01257.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0016 a0001c0001t0002g0045 a0001c0001t0002g0016 a0001c0001t0002g0045	2	110	0.0182	36	c.961 others(55): Show c.961-31613_961-31612insATATATATAAATATAAATATATTTAT ATATTTATAT	CDH13	ENSG00000140945.17	transcript	ENST00000567109.6	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CDH18_chr5_19466296_19993200	19593707	C C	CCTCCTCC others(29): Show CCTCCTCCTCCTCCTTCTTCTTCTTCTTCTTCTTCTT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0119 a0001c0001t0013g0119	1	138	0.0073	36	c.812 others(53): Show c.812-2464_812-2463insAAGAAGAAGAAGAAGAAGAAGAAGGAGG AGGAGGAG	CDH18	ENSG00000145526.12	transcript	ENST00000382275.6	protein_coding	6/12			chr5	TogoVar
CDH18_chr5_19466296_19993200	19593707	C C	CCTCCTCC others(29): Show CCTCCTCCTCCTTCTTCTTCCTCTTCTTCTTCTTCTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0037 a0001c0007t0001g0037	1	138	0.0073	36	c.812 others(53): Show c.812-2464_812-2463insAAGAAGAAGAAGAAGAGGAAGAAGAAGG AGGAGGAG	CDH18	ENSG00000145526.12	transcript	ENST00000382275.6	protein_coding	6/12			chr5	TogoVar
CDH18_chr5_19466296_19993200	19593707	C C	CCTCCTCC others(29): Show CCTCCTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0128 a0001c0002t0008g0128	1	138	0.0073	36	c.812 others(53): Show c.812-2464_812-2463insAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGGAGGAG	CDH18	ENSG00000145526.12	transcript	ENST00000382275.6	protein_coding	6/12			chr5	TogoVar
CDH18_chr5_19466296_19993200	19593707	C C	CCTCCTTC others(29): Show CCTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0058 a0001c0003t0001g0058	1	138	0.0073	36	c.812 others(53): Show c.812-2464_812-2463insAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGGAG	CDH18	ENSG00000145526.12	transcript	ENST00000382275.6	protein_coding	6/12			chr5	TogoVar
CDH22_chr20_46168739_46313498	46181752	C C	CTTCCTTC others(29): Show CTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02683.hp2 HG03492.hp1 HG00733.hp2 HG02683.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0153 a0001c0002t0001g0173 a0001c0002t0002g0275 a0001c0001t0001g0153 a0001c0002t0001g0173 a0001c0002t0002g0275	3	318	0.0094	36	c.166 others(55): Show c.1664-3556_1664-3555insAGAAAGAAAGAAAGAAAGAAAGAAGG AAGGAAGGAA	CDH22	ENSG00000149654.11	transcript	ENST00000537909.4	protein_coding	10/11			chr20	TogoVar
CDH22_chr20_46168739_46313498	46181752	C C	CTTCCTTC others(29): Show CTTCCTTCCTTCGTTCCTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0049 a0001c0001t0002g0049	1	318	0.0031	36	c.166 others(55): Show c.1664-3556_1664-3555insAGAAAGAAAGAAAGAAAGAAGGAACG AAGGAAGGAA	CDH22	ENSG00000149654.11	transcript	ENST00000537909.4	protein_coding	10/11			chr20	TogoVar
CDH22_chr20_46168739_46313498	46181752	C C	CTTCCTTC others(29): Show CTTCCTTCCTTCGTTCGTTCCTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02735.hp2 HG01106.hp1 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0287 a0001c0001t0003g0171 a0001c0001t0002g0287 a0001c0001t0003g0171	2	318	0.0063	36	c.166 others(55): Show c.1664-3556_1664-3555insAGAAAGAAAGAAAGAAGGAACGAACG AAGGAAGGAA	CDH22	ENSG00000149654.11	transcript	ENST00000537909.4	protein_coding	10/11			chr20	TogoVar
CDH22_chr20_46168739_46313498	46181752	C C	CTTCCTTC others(29): Show CTTCCTTCGTTCCTTCCTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0004 a0001c0001t0005g0004	1	318	0.0031	36	c.166 others(55): Show c.1664-3556_1664-3555insAGAAAGAAAGAAAGAAAGAAGGAAGG AACGAAGGAA	CDH22	ENSG00000149654.11	transcript	ENST00000537909.4	protein_coding	10/11			chr20	TogoVar
CDH22_chr20_46168739_46313498	46181752	C C	CTTCGTTC others(29): Show CTTCGTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02165.hp1 HG00140.hp2 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0290 a0001c0001t0001g0200 a0001c0001t0001g0290	2	318	0.0063	36	c.166 others(55): Show c.1664-3556_1664-3555insAGAAAGAAAGAAAGAAAGAAAGAAGG AAGGAACGAA	CDH22	ENSG00000149654.11	transcript	ENST00000537909.4	protein_coding	10/11			chr20	TogoVar
CDH22_chr20_46168739_46313498	46197295	G G	GATATATA others(29): Show GATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0141 a0001c0001t0003g0141	1	318	0.0031	36	c.142 others(55): Show c.1423+2127_1423+2128insATATATATATATATATATATATATAT ATATATATAT	CDH22	ENSG00000149654.11	transcript	ENST00000537909.4	protein_coding	8/11			chr20	TogoVar
CDH22_chr20_46168739_46313498	46197314	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0007 a0001c0008t0007	a0001c0008t0007g0002 a0001c0008t0007g0002	1	318	0.0031	36	c.142 others(55): Show c.1423+2108_1423+2109insCATATATATATATATATATATATATA TATATATATA	CDH22	ENSG00000149654.11	transcript	ENST00000537909.4	protein_coding	8/11			chr20	TogoVar
CDH23_chr10_71391920_71820947	71425371	A A	AGAAGGAA others(29): Show AGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0083 a0001c0001t0002g0083	1	196	0.0051	36	c.-5- others(53): Show c.-5-14449_-5-14414dupAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGA	CDH23	ENSG00000107736.22	transcript	ENST00000224721.12	protein_coding	1/69		INFO_REALIGN_3_PRIME	chr10	TogoVar
CDH23_chr10_71391920_71820947	71427195	G G	GAGAAAGA others(29): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG03098.hp2 NA19085.hp2 HG03098.hp2 NA19085.hp2	a0010 a0015 a0010 a0015	a0010c0146 a0015c0043 a0010c0146 a0015c0043	a0010c0146t0009 a0015c0043t0006 a0010c0146t0009 a0015c0043t0006	a0010c0146t0009g0042 a0015c0043t0006g0095 a0010c0146t0009g0042 a0015c0043t0006g0095	2	196	0.0102	36	c.-5- others(53): Show c.-5-12617_-5-12582dupAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAG	CDH23	ENSG00000107736.22	transcript	ENST00000224721.12	protein_coding	1/69		INFO_REALIGN_3_PRIME	chr10	TogoVar

Search by Variant

Search

Search Results (Total: 8848 hits)