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
KMT2C_chr7_152129925_152441003	152249673	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02148.hp1 NA18994.hp1 HG02148.hp1 NA18994.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0079 a0002c0002t0002g0080 a0002c0002t0002g0079 a0002c0002t0002g0080	2	172	0.0116	23	c.181 others(40): Show c.1813+180_1813+202dupTTTTTTTTTTTTTTTTTTTTTTT	KMT2C	ENSG00000055609.21	transcript	ENST00000262189.11	protein_coding	13/58			chr7	TogoVar
KMT2C_chr7_152129925_152441003	152308673	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0078 a0002c0002t0002g0078	1	172	0.0058	23	c.849 others(40): Show c.849+1270_849+1292dupTTTTTTTTTTTTTTTTTTTTTTT	KMT2C	ENSG00000055609.21	transcript	ENST00000262189.11	protein_coding	6/58			chr7	TogoVar
KMT2E_chr7_105009205_105120019	105071608	A A	ATATATAT others(16): Show ATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	304	0.0033	23	c.498 others(40): Show c.498-2010_498-2009insATATATATATATATATATTTTTT	KMT2E	ENSG00000005483.23	transcript	ENST00000311117.8	protein_coding	6/26		INFO_REALIGN_3_PRIME	chr7	TogoVar
KMT2E_chr7_105009205_105120019	105071608	A A	ATATATAT others(16): Show ATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	304	0.0033	23	c.498 others(40): Show c.498-2010_498-2009insATATATATATATATATTTTTTTT	KMT2E	ENSG00000005483.23	transcript	ENST00000311117.8	protein_coding	6/26		INFO_REALIGN_3_PRIME	chr7	TogoVar
KMT2E_chr7_105009205_105120019	105071608	A A	ATATATAT others(16): Show ATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	304	0.0033	23	c.498 others(40): Show c.498-2010_498-2009insATATATATATATATTTTTTTTTT	KMT2E	ENSG00000005483.23	transcript	ENST00000311117.8	protein_coding	6/26		INFO_REALIGN_3_PRIME	chr7	TogoVar
KNDC1_chr10_133155219_133231412	133185327	G G	GGAATAGG others(16): Show GGAATAGGCAGTGTGTGCAGTGTA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01891.hp1 HG02145.hp1 others(13): Show HG01243.hp1 HG01891.hp1 HG02145.hp1 HG02647.hp2 HG02818.hp2 HG02886.hp2 HG03041.hp1 HG03098.hp2 HG03139.hp1 HG03453.hp2 HG03471.hp1 HG03540.hp2 HG03579.hp1 NA18906.hp1 NA19240.hp2 NA20300.hp1	a0003 a0006 a0007 a0003 a0006 a0007	a0003c0011 a0003c0032 a0006c0010 others(1): Show a0003c0011 a0003c0032 a0006c0010 a0007c0009	a0003c0011t0001 a0003c0032t0010 a0006c0010t0001 others(2): Show a0003c0011t0001 a0003c0032t0010 a0006c0010t0001 a0007c0009t0001 a0007c0009t0002	a0003c0011t0001g0018 a0003c0011t0001g0022 a0003c0011t0001g0153 others(13): Show a0003c0011t0001g0018 a0003c0011t0001g0022 a0003c0011t0001g0153 a0003c0011t0001g0154 a0003c0011t0001g0210 a0003c0011t0001g0248 a0003c0011t0001g0249 a0003c0032t0010g0308 a0006c0010t0001g0048 a0006c0010t0001g0105 a0007c0009t0001g0047 a0007c0009t0001g0104 a0007c0009t0001g0130 a0007c0009t0001g0132 a0007c0009t0001g0133 a0007c0009t0002g0131	16	332	0.0482	23	c.626 others(38): Show c.626-645_626-644insATAGGCAGTGTGTGCAGTGTAGA	KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding	5/29		INFO_REALIGN_3_PRIME	chr10	TogoVar
KNDC1_chr10_133155219_133231412	133185343	G G	GCAGTGTA others(16): Show GCAGTGTAGAGTAGGCAGTGTGTA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02965.hp2 others(4): Show HG02895.hp1 HG02897.hp1 HG02965.hp2 HG03209.hp1 HG03579.hp2 NA18522.hp2 NA19043.hp2	a0006 a0006	a0006c0010 a0006c0019 a0006c0010 a0006c0019	a0006c0010t0001 a0006c0010t0026 a0006c0019t0005 a0006c0010t0001 a0006c0010t0026 a0006c0019t0005	a0006c0010t0001g0019 a0006c0010t0001g0020 a0006c0010t0001g0021 others(4): Show a0006c0010t0001g0019 a0006c0010t0001g0020 a0006c0010t0001g0021 a0006c0010t0001g0240 a0006c0010t0026g0017 a0006c0019t0005g0277 a0006c0019t0005g0278	7	332	0.0211	23	c.626 others(38): Show c.626-625_626-624insAGAGTAGGCAGTGTGTACAGTGT	KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding	5/29		INFO_REALIGN_3_PRIME	chr10	TogoVar
KNDC1_chr10_133155219_133231412	133185366	A A	ACAGTGTG others(16): Show ACAGTGTGGAGTAGGCAGTGTGTG	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG06807.hp2 HG00733.hp1 HG06807.hp2	a0003 a0003	a0003c0015 a0003c0034 a0003c0015 a0003c0034	a0003c0015t0002 a0003c0034t0011 a0003c0015t0002 a0003c0034t0011	a0003c0015t0002g0237 a0003c0034t0011g0313 a0003c0015t0002g0237 a0003c0034t0011g0313	2	332	0.0060	23	c.626 others(38): Show c.626-586_626-585insGCAGTGTGGAGTAGGCAGTGTGT	KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding	5/29		INFO_REALIGN_3_PRIME	chr10	TogoVar
KNTC1_chr12_122522249_122631396	122554076	A A	AAAAAAAT others(16): Show AAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0286 a0001c0001t0001g0287	2	320	0.0063	23	c.127 others(42): Show c.1272+2381_1272+2382insAAAAATATATATATATATATATA	KNTC1	ENSG00000184445.12	transcript	ENST00000333479.12	protein_coding	16/63		INFO_REALIGN_3_PRIME	chr12	TogoVar
KPNA3_chr13_49694320_49797682	49730519	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01074.hp2 NA19085.hp1 HG01074.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0013 a0001c0001t0002g0016 a0001c0001t0002g0013 a0001c0001t0002g0016	2	376	0.0053	23	c.383 others(40): Show c.383+1829_383+1851dupTTTTTTTTTTTTTTTTTTTTTTT	KPNA3	ENSG00000102753.10	transcript	ENST00000261667.8	protein_coding	6/16			chr13	TogoVar
KPNA5_chr6_116676211_116746867	116710894	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0025 a0001c0001t0002g0025	1	344	0.0029	23	c.657 others(40): Show c.657-5325_657-5324insATATATATATATATATATATATA	KPNA5	ENSG00000196911.12	transcript	ENST00000368564.7	protein_coding	7/13			chr6	TogoVar
KRAS_chr12_25200246_25255929	25202063	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG01981.hp1 HG01123.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0007 a0001c0001t0003g0034 a0001c0001t0003g0007 a0001c0001t0003g0034	2	346	0.0058	23	c.78 others(34): Show c.7852_*7853insTTTTTTTTTTTTTTTTTTTTTTT	KRAS	ENSG00000133703.14	transcript	ENST00000256078.10	protein_coding		3182		chr12	TogoVar
KRBA2_chr17_8353822_8381704	8374937	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0213 a0001c0002t0213	a0001c0002t0213g0328 a0001c0002t0213g0328	1	388	0.0026	23	c.-21 others(38): Show c.-21+940_-21+962dupTTTTTTTTTTTTTTTTTTTTTTT	KRBA2	ENSG00000184619.8	transcript	ENST00000396267.3	protein_coding	1/1			chr17	TogoVar
KRI1_chr19_10548085_10571010	10570547	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG02155.hp1 NA18612.hp2 others(7): Show HG01081.hp2 HG02155.hp1 NA18612.hp2 NA18946.hp2 NA18992.hp1 NA19012.hp2 NA19055.hp2 NA19080.hp2 NA19083.hp1 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 a0001c0001t0001 a0001c0001t0004 a0001c0001t0009	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0061 others(5): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0061 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0074 a0001c0001t0004g0064 a0001c0001t0009g0062	10	406	0.0246	23	c.-45 others(34): Show c.-4549_-4548insTTTTTTTTTTTTTTTTTTTTTTT	KRI1	ENSG00000129347.21	transcript	ENST00000312962.12	protein_coding		4538		chr19	TogoVar
KRT13_chr17_41495981_41510612	41496813	G G	GGCCAGGA others(16): Show GGCCAGGACTGGGTCTAGGGCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0009 a0002c0002t0001g0009	1	470	0.0021	23	c.44 others(34): Show c.4442_*4443insTGGGCCCTAGACCCAGTCCTGGC	KRT13	ENSG00000171401.15	transcript	ENST00000246635.8	protein_coding		4167		chr17	TogoVar
KRT31_chr17_41388721_41402608	41398912	T T	TATATATA others(16): Show TATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02055.hp1 HG03471.hp1 HG01884.hp2 HG02055.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0006 a0001c0001t0004g0006	3	453	0.0066	23	c.-13 others(34): Show c.-1374_-1373insTATATATATATATATATATATAT	KRT31	ENSG00000094796.5	transcript	ENST00000251645.3	protein_coding		1305		chr17	TogoVar
KRT39_chr17_40953417_40971948	40971584	A A	AGAATACT others(16): Show AGAATACTTTTACAAATTCAGATG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	423	0.0024	23	c.-47 others(34): Show c.-4729_-4728insCATCTGAATTTGTAAAAGTATTC	KRT39	ENSG00000196859.8	transcript	ENST00000355612.7	protein_coding		4637		chr17	TogoVar
KRT40_chr17_40972715_40989326	40984860	A A	AGTTGTGT others(16): Show AGTTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0002 a0006c0006t0002	a0006c0006t0002g0006 a0006c0006t0002g0006	1	451	0.0022	23	c.-58 others(32): Show c.-588_-587insACACACACACACACACACACAAC	KRT40	ENSG00000204889.11	transcript	ENST00000377755.9	protein_coding		535		chr17	TogoVar
KRTAP1-3_chr17_41028884_41039874	41035700	T T	TTTCTTTC others(16): Show TTTCTTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	435	0.0023	23	c.-88 others(32): Show c.-880_-879insGAAAGAAAGAAAGAAAGAAAGAA	KRTAP1-3	ENSG00000221880.4	transcript	ENST00000344363.7	protein_coding		827		chr17	TogoVar
KRTAP1-4_chr17_41024351_41035195	41032968	A A	ATAATCCA others(16): Show ATAATCCATGATCTCAGGATGTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	429	0.0023	23	c.-28 others(34): Show c.-2891_-2890insAGACATCCTGAGATCATGGATTA	KRTAP1-4	ENSG00000204887.5	transcript	ENST00000377747.5	protein_coding		2774		chr17	TogoVar
KRTAP10-1_chr21_44533981_44545195	44534250	T T	TGTGAGGG others(16): Show TGTGAGGGGTGGAGCTGGTGTGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0001 a0001c0025t0001	a0001c0025t0001g0000 a0001c0025t0001g0000	1	438	0.0023	23	c.50 others(34): Show c.5051_*5052insCTCACACCAGCTCCACCCCTCAC	KRTAP10-1	ENSG00000215455.4	transcript	ENST00000400375.1	protein_coding		4730		chr21	TogoVar
KRTAP10-1_chr21_44533981_44545195	44534250	T T	TGTGAGGG others(16): Show TGTGAGGGGTGGGGCTTGTGTGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG02647.hp2 HG02717.hp2 others(4): Show HG02486.hp2 HG02647.hp2 HG02717.hp2 HG02896.hp2 HG03098.hp1 HG03209.hp2 HG03540.hp2	a0001 a0006 a0026 a0001 a0006 a0026	a0001c0005 a0006c0007 a0026c0038 a0001c0005 a0006c0007 a0026c0038	a0001c0005t0002 a0006c0007t0002 a0026c0038t0001 a0001c0005t0002 a0006c0007t0002 a0026c0038t0001	a0001c0005t0002g0000 a0006c0007t0002g0000 a0026c0038t0001g0000 a0001c0005t0002g0000 a0006c0007t0002g0000 a0026c0038t0001g0000	7	438	0.0160	23	c.50 others(34): Show c.5051_*5052insCTCACACAAGCCCCACCCCTCAC	KRTAP10-1	ENSG00000215455.4	transcript	ENST00000400375.1	protein_coding		4730		chr21	TogoVar
KRTAP10-7_chr21_44595597_44607174	44599134	T T	TCTCTCTC others(16): Show TCTCTCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18943.hp1 NA18943.hp2 NA18963.hp2 NA18943.hp1 NA18943.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	3	446	0.0067	23	c.-14 others(34): Show c.-1488_-1487insCTCTCTCTCTCTCTCTCTCTCTC	KRTAP10-7	ENSG00000272804.3	transcript	ENST00000609664.2	protein_coding		1462		chr21	TogoVar
KRTAP16-1_chr17_41302700_41314309	41310389	G G	GAAAGAAA others(16): Show GAAAGAAAGAAAGAAGGAAAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG01099.hp2 HG01192.hp1 others(4): Show HG00735.hp1 HG01099.hp2 HG01192.hp1 HG02809.hp2 HG03209.hp1 HG03491.hp2 NA18981.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0003 a0001c0001 a0004c0003	a0001c0001t0001 a0004c0003t0001 a0001c0001t0001 a0004c0003t0001	a0001c0001t0001g0000 a0004c0003t0001g0000 a0001c0001t0001g0000 a0004c0003t0001g0000	7	421	0.0166	23	c.-11 others(34): Show c.-1137_-1136insTTTCTTTCCTTCTTTCTTTCTTT	KRTAP16-1	ENSG00000212657.2	transcript	ENST00000391352.2	protein_coding		1081		chr17	TogoVar
KRTAP17-1_chr17_41309912_41320710	41310389	G G	GAAAGAAA others(16): Show GAAAGAAAGAAAGAAAGAAAGAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	413	0.0024	23	c.49 others(34): Show c.4943_*4944insTTTCTTTCTTTCTTTCTTTCTTT	KRTAP17-1	ENSG00000186860.5	transcript	ENST00000334202.5	protein_coding		4522		chr17	TogoVar
KRTAP17-1_chr17_41309912_41320710	41310389	G G	GAAAGAAA others(16): Show GAAAGAAAGAAAGAAGGAAAGAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG01099.hp2 HG01192.hp1 others(4): Show HG00735.hp1 HG01099.hp2 HG01192.hp1 HG01346.hp1 HG02809.hp1 HG03491.hp1 NA18981.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0002c0002t0004 a0001c0001t0001 a0001c0001t0003 a0002c0002t0004	a0001c0001t0001g0000 a0001c0001t0003g0000 a0002c0002t0004g0000 a0001c0001t0001g0000 a0001c0001t0003g0000 a0002c0002t0004g0000	7	413	0.0170	23	c.49 others(34): Show c.4943_*4944insTTTCTTTCCTTCTTTCTTTCTTT	KRTAP17-1	ENSG00000186860.5	transcript	ENST00000334202.5	protein_coding		4522		chr17	TogoVar
KRTAP2-2_chr17_41049498_41060230	41050940	A A	AATATATT others(16): Show AATATATTATATATAGTAAAATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0000 a0001c0002t0001g0000	1	411	0.0024	23	c.38 others(34): Show c.3899_*3900insATATTTTACTATATATAATATAT	KRTAP2-2	ENSG00000214518.4	transcript	ENST00000398477.1	protein_coding		3557		chr17	TogoVar
KRTAP5-1_chr11_1579342_1590283	1581609	A A	ATATCTCA others(16): Show ATATCTCAGGACCGTGGGGATCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0000 a0002c0002t0001g0000	1	429	0.0023	23	c.28 others(34): Show c.2803_*2804insCAGATCCCCACGGTCCTGAGATA	KRTAP5-1	ENSG00000205869.2	transcript	ENST00000382171.2	protein_coding		2732		chr11	TogoVar
KRTAP5-1_chr11_1579342_1590283	1583918	G G	GTGTGTGT others(16): Show GTGTGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp2 NA18969.hp2 HG03927.hp2 NA18969.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0000 a0002c0002t0001g0000	2	429	0.0047	23	c.49 others(32): Show c.494_*495insACACACACACACACACACACACA	KRTAP5-1	ENSG00000205869.2	transcript	ENST00000382171.2	protein_coding		423		chr11	TogoVar
KRTAP7-1_chr21_30824039_30834759	30825290	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 NA18906.hp1 HG02615.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	426	0.0047	23	c.41 others(34): Show c.4144_*4145insAAAAAAAAAAAAAAAAAAAAAAA	KRTAP7-1	ENSG00000274749.1	transcript	ENST00000621162.1	protein_coding		3748		chr21	TogoVar
KRTAP9-3_chr17_41227449_41238454	41235988	A A	AGAAGGGA others(16): Show AGAAGGGAAGGGAAGGGAGGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02572.hp2 HG02257.hp1 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	439	0.0046	23	c.30 others(34): Show c.3007_*3008insGAAGGGAAGGGAAGGGAGGGAGG	KRTAP9-3	ENSG00000204873.5	transcript	ENST00000411528.4	protein_coding		2535		chr17	TogoVar
KRTAP9-8_chr17_41232999_41244004	41235988	A A	AGAAGGGA others(16): Show AGAAGGGAAGGGAAGGGAGGGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02572.hp2 HG02257.hp1 HG02572.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0000 a0001c0004t0003g0000	2	435	0.0046	23	c.-20 others(34): Show c.-2064_-2063insGAAGGGAAGGGAAGGGAGGGAGG	KRTAP9-8	ENSG00000187272.7	transcript	ENST00000254072.7	protein_coding		2010		chr17	TogoVar
KRTDAP_chr19_35482324_35495464	35482721	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAAAAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	430	0.0023	23	c.47 others(34): Show c.4706_*4707insCTCTTTTTTTTTTTTTTTTTTTT	KRTDAP	ENSG00000188508.11	transcript	ENST00000338897.4	protein_coding		4602		chr19	TogoVar
KSR1_chr17_27451448_27631435	27526044	T T	TTTCTTTT others(16): Show TTTCTTTTCTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00735.hp1 HG01070.hp2 others(25): Show HG00099.hp2 HG00735.hp1 HG01070.hp2 HG01255.hp2 HG01346.hp2 HG01496.hp2 HG01515.hp2 HG01928.hp2 HG01993.hp2 HG02055.hp1 HG02300.hp2 HG02559.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG02886.hp2 HG03041.hp1 HG03098.hp2 HG03139.hp2 HG03225.hp2 HG03486.hp1 HG03579.hp1 HG03579.hp2 NA18970.hp1 NA19043.hp1 NA19067.hp2 NA19070.hp2 NA21309.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0001c0005 others(4): Show a0001c0001 a0001c0002 a0001c0005 a0001c0013 a0001c0017 a0002c0003 a0005c0016	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0005t0002 a0001c0005t0003 a0001c0005t0023 a0001c0013t0002 a0001c0017t0001 a0002c0003t0004 a0005c0016t0009	a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0167 others(25): Show a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0167 a0001c0001t0001g0185 a0001c0001t0001g0197 a0001c0001t0001g0208 a0001c0001t0003g0096 a0001c0001t0003g0104 a0001c0001t0003g0121 a0001c0001t0003g0124 a0001c0001t0003g0129 a0001c0002t0001g0183 a0001c0002t0001g0201 a0001c0002t0001g0204 a0001c0002t0001g0207 a0001c0002t0001g0211 a0001c0005t0002g0004 a0001c0005t0002g0005 a0001c0005t0003g0120 a0001c0005t0003g0123 a0001c0005t0023g0177 a0001c0013t0002g0006 a0001c0017t0001g0205 a0002c0003t0004g0180 a0002c0003t0004g0219 a0002c0003t0004g0220 a0002c0003t0004g0228 a0005c0016t0009g0127	28	246	0.1138	23	c.232 others(42): Show c.232-24523_232-24522insTCTTTTCTTTTCTTTTCTTTTCT	KSR1	ENSG00000141068.17	transcript	ENST00000644974.2	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr17	TogoVar
KSR1_chr17_27451448_27631435	27563981	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0229 a0001c0001t0004g0229	1	246	0.0041	23	c.372 others(42): Show c.372+13276_372+13298dupTTTTTTTTTTTTTTTTTTTTTTT	KSR1	ENSG00000141068.17	transcript	ENST00000644974.2	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr17	TogoVar
KSR2_chr12_117448012_117973990	117452573	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0078 a0001c0001t0078	a0001c0001t0078g0072 a0001c0001t0078g0072	1	196	0.0051	23	c.14 others(36): Show c.14625_*14626insAAAAAAAAAAAAAAAAAAAAAAA	KSR2	ENSG00000171435.15	transcript	ENST00000339824.7	protein_coding		438		chr12	TogoVar
KYAT1_chr9_128827942_128886950	128865359	A A	ATATATAT others(16): Show ATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	326	0.0031	23	c.-7+ others(40): Show c.-7+16537_-7+16538insAAAAAAAAAAATATATATATATA	KYAT1	ENSG00000171097.14	transcript	ENST00000302586.8	protein_coding	1/12			chr9	TogoVar
KYAT1_chr9_128827942_128886950	128865359	A A	ATATATAT others(16): Show ATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03225.hp1 NA19010.hp2 HG03225.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0141 a0001c0001t0002g0188 a0001c0001t0002g0141 a0001c0001t0002g0188	2	326	0.0061	23	c.-7+ others(40): Show c.-7+16537_-7+16538insAAAAAAAAAAAAAAATATATATA	KYAT1	ENSG00000171097.14	transcript	ENST00000302586.8	protein_coding	1/12			chr9	TogoVar
KYAT1_chr9_128827942_128886950	128865359	A A	ATATTTTT others(16): Show ATATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0192 a0001c0001t0002g0192	1	326	0.0031	23	c.-7+ others(40): Show c.-7+16537_-7+16538insAAAAAAAAAAAAAAAAAAAAATA	KYAT1	ENSG00000171097.14	transcript	ENST00000302586.8	protein_coding	1/12			chr9	TogoVar
L1TD1_chr1_62189849_62217328	62205441	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18964.hp1 NA18943.hp2 NA18964.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0076 a0003c0003t0004g0090 a0003c0003t0004g0076 a0003c0003t0004g0090	2	414	0.0048	23	c.-11 others(42): Show c.-110-1077_-110-1076insTTTTTTTTTTTTTTTTTTTTTTT	L1TD1	ENSG00000240563.2	transcript	ENST00000498273.2	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
L1TD1_chr1_62189849_62217328	62205443	A A	ATATATAT others(16): Show ATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0008 a0005c0006t0008	a0005c0006t0008g0224 a0005c0006t0008g0224	1	414	0.0024	23	c.-11 others(42): Show c.-110-1075_-110-1074insATATATTTTTTTTTTTTTTTTTT	L1TD1	ENSG00000240563.2	transcript	ENST00000498273.2	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
L1TD1_chr1_62189849_62217328	62205443	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 NA18939.hp1 NA18957.hp2 others(4): Show HG02055.hp2 NA18939.hp1 NA18957.hp2 NA19060.hp2 NA19063.hp2 NA19082.hp2 NA21309.hp1	a0002 a0003 a0005 a0002 a0003 a0005	a0002c0002 a0003c0003 a0005c0014 a0002c0002 a0003c0003 a0005c0014	a0002c0002t0003 a0003c0003t0004 a0005c0014t0001 a0002c0002t0003 a0003c0003t0004 a0005c0014t0001	a0002c0002t0003g0017 a0002c0002t0003g0196 a0002c0002t0003g0201 others(3): Show a0002c0002t0003g0017 a0002c0002t0003g0196 a0002c0002t0003g0201 a0002c0002t0003g0206 a0003c0003t0004g0072 a0005c0014t0001g0038	7	414	0.0169	23	c.-11 others(42): Show c.-110-1067_-110-1066insTTTTTTTTTTTTTTTTTTTTTTT	L1TD1	ENSG00000240563.2	transcript	ENST00000498273.2	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
L3MBTL4_chr18_5949717_6419911	6072865	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	94	0.0106	23	c.144 others(42): Show c.1444+8015_1444+8016insTTTTTTTTTTTTTTTTTTTTTTT	L3MBTL4	ENSG00000154655.16	transcript	ENST00000317931.12	protein_coding	16/18			chr18	TogoVar
L3MBTL4_chr18_5949717_6419911	6247466	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0039 a0001c0003t0002g0039	1	94	0.0106	23	c.220 others(40): Show c.220-2901_220-2879dupAAAAAAAAAAAAAAAAAAAAAAA	L3MBTL4	ENSG00000154655.16	transcript	ENST00000317931.12	protein_coding	5/18			chr18	TogoVar
LACTB2_chr8_70632266_70674185	70668748	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0048 a0001c0002t0003g0048	1	352	0.0028	23	c.122 others(38): Show c.122+228_122+250dupAAAAAAAAAAAAAAAAAAAAAAA	LACTB2	ENSG00000147592.9	transcript	ENST00000276590.5	protein_coding	1/6			chr8	TogoVar
LACTB2_chr8_70632266_70674185	70669642	T T	TGTGTGTG others(16): Show TGTGTGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	352	0.0028	23	c.-52 others(32): Show c.-523_-522insCACACACACACACACACACACAC	LACTB2	ENSG00000147592.9	transcript	ENST00000276590.5	protein_coding		458		chr8	TogoVar
LAMA1_chr18_6936742_7122797	7073849	T T	TGTGTGTG others(16): Show TGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0041 a0041	a0041c0208 a0041c0208	a0041c0208t0003 a0041c0208t0003	a0041c0208t0003g0126 a0041c0208t0003g0126	1	278	0.0036	23	c.345 others(40): Show c.345+6125_345+6126insCACACACACACACACACACACAC	LAMA1	ENSG00000101680.16	transcript	ENST00000389658.4	protein_coding	3/62			chr18	TogoVar
LAMA2_chr6_128878138_129521566	129066038	G G	GTATGTCT others(16): Show GTATGTCTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0003 a0003	a0003c0031 a0003c0031	a0003c0031t0002 a0003c0031t0002	a0003c0031t0002g0005 a0003c0031t0002g0005	1	88	0.0114	23	c.396 others(40): Show c.396+6143_396+6144insATGTCTTTTTTTTTTTTTTTTTT	LAMA2	ENSG00000196569.14	transcript	ENST00000421865.3	protein_coding	3/64		INFO_REALIGN_3_PRIME	chr6	TogoVar
LAMA2_chr6_128878138_129521566	129208725	G G	GGGAAGGA others(16): Show GGGAAGGAAGGAGGGAGGGAGGGA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02572.hp1 HG02965.hp1 others(1): Show HG02559.hp1 HG02572.hp1 HG02965.hp1 HG06807.hp2	a0003 a0005 a0021 others(1): Show a0003 a0005 a0021 a0029	a0003c0031 a0005c0009 a0021c0023 others(1): Show a0003c0031 a0005c0009 a0021c0023 a0029c0045	a0003c0031t0002 a0005c0009t0001 a0021c0023t0002 others(1): Show a0003c0031t0002 a0005c0009t0001 a0021c0023t0002 a0029c0045t0002	a0003c0031t0002g0005 a0005c0009t0001g0019 a0021c0023t0002g0086 others(1): Show a0003c0031t0002g0005 a0005c0009t0001g0019 a0021c0023t0002g0086 a0029c0045t0002g0006	4	88	0.0455	23	c.178 others(44): Show c.1782+15893_1782+15894insGAGGAAGGAAGGAGGGAGGGAGG	LAMA2	ENSG00000196569.14	transcript	ENST00000421865.3	protein_coding	12/64		INFO_REALIGN_3_PRIME	chr6	TogoVar
LAMA5_chr20_62304065_62372312	62309639	T T	TGGGGGGG others(16): Show TGGGGGGGGTGGGAGGGGGTGGGG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00673.hp1 HG00673.hp2 others(2): Show HG00597.hp1 HG00673.hp1 HG00673.hp2 HG01070.hp2 HG04228.hp1	a0001 a0016 a0033 others(1): Show a0001 a0016 a0033 a0058	a0001c0001 a0001c0005 a0016c0047 others(2): Show a0001c0001 a0001c0005 a0016c0047 a0033c0107 a0058c0122	a0001c0001t0001 a0001c0005t0001 a0016c0047t0001 others(2): Show a0001c0001t0001 a0001c0005t0001 a0016c0047t0001 a0033c0107t0001 a0058c0122t0001	a0001c0001t0001g0014 a0001c0005t0001g0161 a0016c0047t0001g0086 others(2): Show a0001c0001t0001g0014 a0001c0005t0001g0161 a0016c0047t0001g0086 a0033c0107t0001g0111 a0058c0122t0001g0080	5	186	0.0269	23	c.109 others(40): Show c.10948+76_10948+77insCCCCACCCCCTCCCACCCCCCCC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	79/79			chr20	TogoVar

Search by Variant

Search

Search Results (Total: 8696 hits)