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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	status	chr	external
IRS4_chrX_108714946_108741563	108735690	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG01069.hp1 HG01069.hp1	a0014 a0014	a0014c0019 a0014c0019	a0014c0019t0015 a0014c0019t0015	a0014c0019t0015g0111 a0014c0019t0015g0111	1	308	0.0033	1	c.654 others(4): Show c.654dupC	p.Ala others(5): Show p.Ala219fs	IRS4	ENSG00000133124.12	transcript	ENST00000372129.4	protein_coding	1/2	873/6563	654/3771	218/1256		chrX	TogoVar
IRS4_chrX_108714946_108741563	108735971	G G	GC GC	frameshift_variant frameshift_variant	HIGH	HG01069.hp1 HG01069.hp1	a0014 a0014	a0014c0019 a0014c0019	a0014c0019t0015 a0014c0019t0015	a0014c0019t0015g0111 a0014c0019t0015g0111	1	308	0.0033	1	c.373 others(4): Show c.373dupG	p.Ala others(5): Show p.Ala125fs	IRS4	ENSG00000133124.12	transcript	ENST00000372129.4	protein_coding	1/2	592/6563	373/3771	125/1256		chrX	TogoVar
IRX2_chr5_2741165_2756677	2748551	GACGTGTA others(19): Show GACGTGTAGTAGAGGGGGCGGCCCAGC	G G	frameshift_variant frameshift_variant	HIGH	NA18985.hp2 NA18985.hp2	a0000 a0000	a0000c0012 a0000c0012	a0000c0012t0001 a0000c0012t0001	a0000c0012t0001g0079 a0000c0012t0001g0079	1	436	0.0023	-26	c.113 others(35): Show c.1131_1156delGCTGGGCCGCCCCCTCTACTACACGT	p.Leu others(5): Show p.Leu378fs	IRX2	ENSG00000170561.13	transcript	ENST00000302057.6	protein_coding	3/4	1420/3079	1131/1416	377/471		chr5	TogoVar
IRX5_chr16_54925865_54939485	54933218	G G	GC GC	frameshift_variant frameshift_variant	HIGH	HG00408.hp1 HG00408.hp2 HG00597.hp1 others(30): Show HG00408.hp1 HG00408.hp2 HG00597.hp1 HG00597.hp2 HG01099.hp1 HG01106.hp1 HG01192.hp1 HG01192.hp2 HG01257.hp2 HG01261.hp2 HG01433.hp1 HG01934.hp2 HG01981.hp2 HG02074.hp1 HG02109.hp2 HG02257.hp2 HG02280.hp2 HG02523.hp2 HG02602.hp1 HG02615.hp1 HG02698.hp1 HG02738.hp1 HG02738.hp2 HG03139.hp2 HG03669.hp1 HG03688.hp2 HG03927.hp1 HG04115.hp2 NA18977.hp1 NA19003.hp1 NA19003.hp2 NA19005.hp2 NA19054.hp1	a0003 a0004 a0003 a0004	a0003c0004 a0004c0005 a0003c0004 a0004c0005	a0003c0004t0001 a0004c0005t0001 a0004c0005t0002 others(2): Show a0003c0004t0001 a0004c0005t0001 a0004c0005t0002 a0004c0005t0003 a0004c0005t0004	a0003c0004t0001g0001 a0003c0004t0001g0009 a0004c0005t0001g0001 others(4): Show a0003c0004t0001g0001 a0003c0004t0001g0009 a0004c0005t0001g0001 a0004c0005t0002g0002 a0004c0005t0002g0004 a0004c0005t0003g0001 a0004c0005t0004g0003	33	390	0.0846	1	c.805 others(4): Show c.805dupC	p.Arg others(5): Show p.Arg269fs	IRX5	ENSG00000176842.16	transcript	ENST00000394636.9	protein_coding	3/3	1140/2398	806/1452	269/483	INFO_REALIGN_3_PRIME	chr16	TogoVar
ISYNA1_chr19_18429388_18443133	18437664	T T	TTGGTGGT others(3): Show TTGGTGGTGGG	frameshift_variant frameshift_variant	HIGH	NA18993.hp2 NA18993.hp2	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0001 a0005c0011t0001	a0005c0011t0001g0031 a0005c0011t0001g0031	1	308	0.0033	10	c.216 others(17): Show c.216_217insCCCACCACCA	p.Thr others(4): Show p.Thr73fs	ISYNA1	ENSG00000105655.19	transcript	ENST00000338128.13	protein_coding	3/11	266/2252	216/1677	72/558		chr19	TogoVar
ITGB1BP2_chrX_71296750_71310371	71302480	A A	AG AG	frameshift_variant frameshift_variant	HIGH	NA19068.hp1 NA19068.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0001 a0005c0006t0001g0001	1	291	0.0034	1	c.242 others(4): Show c.242dupG	p.Ser others(4): Show p.Ser81fs	ITGB1BP2	ENSG00000147166.11	transcript	ENST00000373829.8	protein_coding	4/11	300/1280	243/1044	81/347	INFO_REALIGN_3_PRIME	chrX	TogoVar
ITGB1BP2_chrX_71296750_71310371	71303656	T T	TC TC	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0007 a0007	a0007c0005 a0007c0005	a0007c0005t0002 a0007c0005t0002	a0007c0005t0002g0010 a0007c0005t0002g0010	1	291	0.0034	1	c.500 others(4): Show c.500dupC	p.Cys others(5): Show p.Cys168fs	ITGB1BP2	ENSG00000147166.11	transcript	ENST00000373829.8	protein_coding	7/11	558/1280	501/1044	167/347	INFO_REALIGN_3_PRIME	chrX	TogoVar
ITGB1BP2_chrX_71296750_71310371	71303814	TG TG	T T	frameshift_variant frameshift_variant	HIGH	HG02165.hp1 HG02165.hp1	a0006 a0006	a0006c0004 a0006c0004	a0006c0004t0001 a0006c0004t0001	a0006c0004t0001g0001 a0006c0004t0001g0001	1	291	0.0034	-1	c.543 others(4): Show c.543delG	p.Met others(5): Show p.Met181fs	ITGB1BP2	ENSG00000147166.11	transcript	ENST00000373829.8	protein_coding	8/11	600/1280	543/1044	181/347		chrX	TogoVar
ITGB1BP2_chrX_71296750_71310371	71305043	T T	TC TC	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0007 a0007	a0007c0005 a0007c0005	a0007c0005t0002 a0007c0005t0002	a0007c0005t0002g0010 a0007c0005t0002g0010	1	291	0.0034	1	c.897 others(4): Show c.897dupC	p.Trp others(5): Show p.Trp300fs	ITGB1BP2	ENSG00000147166.11	transcript	ENST00000373829.8	protein_coding	11/11	955/1280	898/1044	300/347	INFO_REALIGN_3_PRIME	chrX	TogoVar
ITGB1BP2_chrX_71296750_71310371	71305081	GA GA	G G	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0007 a0007	a0007c0005 a0007c0005	a0007c0005t0002 a0007c0005t0002	a0007c0005t0002g0010 a0007c0005t0002g0010	1	291	0.0034	-1	c.935 others(4): Show c.935delA	p.Lys others(5): Show p.Lys312fs	ITGB1BP2	ENSG00000147166.11	transcript	ENST00000373829.8	protein_coding	11/11	992/1280	935/1044	312/347	INFO_REALIGN_3_PRIME	chrX	TogoVar
ITIH3_chr3_52789796_52813797	52796761	C C	CCTGGGAA others(3): Show CCTGGGAATGT	frameshift_variant frameshift_variant	HIGH	NA18972.hp2 NA18972.hp2	a0024 a0024	a0024c0034 a0024c0034	a0024c0034t0001 a0024c0034t0001	a0024c0034t0001g0045 a0024c0034t0001g0045	1	414	0.0024	10	c.306 others(17): Show c.306_315dupTGGGAATGTC	p.Lys others(5): Show p.Lys106fs	ITIH3	ENSG00000162267.14	transcript	ENST00000449956.3	protein_coding	4/22	324/2797	316/2673	106/890	INFO_REALIGN_3_PRIME	chr3	TogoVar
ITIH5_chr10_7554270_7671966	7563115	T T	TC TC	frameshift_variant frameshift_variant	HIGH	HG01884.hp2 HG02071.hp2 HG02145.hp1 others(24): Show HG01884.hp2 HG02071.hp2 HG02145.hp1 HG02257.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02615.hp1 HG02615.hp2 HG02647.hp2 HG02717.hp2 HG02818.hp1 HG02818.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp2 HG03098.hp1 HG03130.hp2 HG03195.hp2 HG03209.hp2 HG03453.hp1 HG03471.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 NA18612.hp2 NA20300.hp1	a0000 a0000	a0000c0011 a0000c0013 a0000c0014 others(14): Show a0000c0011 a0000c0013 a0000c0014 a0000c0025 a0000c0026 a0000c0030 a0000c0034 a0000c0038 a0000c0041 a0000c0042 a0000c0056 a0000c0057 a0000c0063 a0000c0065 a0000c0066 a0000c0079 a0000c0082	a0000c0011t0007 a0000c0011t0030 a0000c0011t0031 others(21): Show a0000c0011t0007 a0000c0011t0030 a0000c0011t0031 a0000c0013t0004 a0000c0013t0037 a0000c0013t0038 a0000c0014t0004 a0000c0014t0034 a0000c0014t0036 a0000c0025t0004 a0000c0026t0007 a0000c0026t0014 a0000c0030t0015 a0000c0034t0004 a0000c0038t0004 a0000c0041t0013 a0000c0042t0033 a0000c0056t0039 a0000c0057t0035 a0000c0063t0014 a0000c0065t0007 a0000c0066t0013 a0000c0079t0004 a0000c0082t0007	a0000c0011t0007g0084 a0000c0011t0007g0137 a0000c0011t0030g0013 others(24): Show a0000c0011t0007g0084 a0000c0011t0007g0137 a0000c0011t0030g0013 a0000c0011t0031g0260 a0000c0013t0004g0129 a0000c0013t0037g0251 a0000c0013t0038g0130 a0000c0014t0004g0195 a0000c0014t0034g0190 a0000c0014t0036g0211 a0000c0025t0004g0189 a0000c0025t0004g0264 a0000c0026t0007g0068 a0000c0026t0014g0188 a0000c0030t0015g0010 a0000c0030t0015g0338 a0000c0034t0004g0313 a0000c0038t0004g0276 a0000c0041t0013g0150 a0000c0042t0033g0275 a0000c0056t0039g0256 a0000c0057t0035g0191 a0000c0063t0014g0263 a0000c0065t0007g0147 a0000c0066t0013g0199 a0000c0079t0004g0282 a0000c0082t0007g0286	27	342	0.0790	1	c.279 others(5): Show c.2796dupG	p.Thr others(5): Show p.Thr933fs	ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding	14/14	2870/6716	2796/2829	932/942		chr10	TogoVar
ITIH6_chrX_54743918_54803255	54751146	CG CG	C C	frameshift_variant frameshift_variant	HIGH	NA18982.hp1 NA18982.hp1	a0014 a0014	a0014c0018 a0014c0018	a0014c0018t0001 a0014c0018t0001	a0014c0018t0001g0074 a0014c0018t0001g0074	1	296	0.0034	-1	c.358 others(5): Show c.3586delC	p.Arg others(6): Show p.Arg1196fs	ITIH6	ENSG00000102313.9	transcript	ENST00000218436.7	protein_coding	12/13	3631/4964	3586/3942	1196/1313		chrX	TogoVar
ITIH6_chrX_54743918_54803255	54751275	CG CG	C C	frameshift_variant frameshift_variant	HIGH	NA18982.hp1 NA18982.hp1	a0014 a0014	a0014c0018 a0014c0018	a0014c0018t0001 a0014c0018t0001	a0014c0018t0001g0074 a0014c0018t0001g0074	1	296	0.0034	-1	c.345 others(5): Show c.3457delC	p.Arg others(6): Show p.Arg1153fs	ITIH6	ENSG00000102313.9	transcript	ENST00000218436.7	protein_coding	12/13	3502/4964	3457/3942	1153/1313		chrX	TogoVar
ITIH6_chrX_54743918_54803255	54751337	CG CG	C C	frameshift_variant frameshift_variant	HIGH	NA18982.hp1 NA18982.hp1	a0014 a0014	a0014c0018 a0014c0018	a0014c0018t0001 a0014c0018t0001	a0014c0018t0001g0074 a0014c0018t0001g0074	1	296	0.0034	-1	c.339 others(5): Show c.3395delC	p.Pro others(6): Show p.Pro1132fs	ITIH6	ENSG00000102313.9	transcript	ENST00000218436.7	protein_coding	12/13	3440/4964	3395/3942	1132/1313		chrX	TogoVar
ITIH6_chrX_54743918_54803255	54758588	T T	TG TG	frameshift_variant frameshift_variant	HIGH	NA18985.hp2 NA18985.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0002 a0006c0010t0002	a0006c0010t0002g0062 a0006c0010t0002g0062	1	296	0.0034	1	c.148 others(5): Show c.1485dupC	p.Asn others(5): Show p.Asn496fs	ITIH6	ENSG00000102313.9	transcript	ENST00000218436.7	protein_coding	8/13	1530/4964	1485/3942	495/1313		chrX	TogoVar
ITIH6_chrX_54743918_54803255	54788552	AGAGATGG others(3): Show AGAGATGGACG	A A	frameshift_variant frameshift_variant	HIGH	HG03704.hp2 NA18985.hp2 HG03704.hp2 NA18985.hp2	a0006 a0006	a0006c0009 a0006c0010 a0006c0009 a0006c0010	a0006c0009t0002 a0006c0010t0002 a0006c0009t0002 a0006c0010t0002	a0006c0009t0002g0181 a0006c0010t0002g0062 a0006c0009t0002g0181 a0006c0010t0002g0062	2	296	0.0068	-10	c.704 others(17): Show c.704_713delCGTCCATCTC	p.Ser others(5): Show p.Ser235fs	ITIH6	ENSG00000102313.9	transcript	ENST00000218436.7	protein_coding	5/13	758/4964	704/3942	235/1313		chrX	TogoVar
ITIH6_chrX_54743918_54803255	54788593	T T	TGTGGTGT others(61): Show TGTGGTGTGGGGCTGCTGAGGGGTGGTTTGTGTGCTGGGGTTGAGAGTCC TATAGCAGGAGATGCACGA	frameshift_variant frameshift_variant	HIGH	HG03704.hp2 NA18985.hp2 HG03704.hp2 NA18985.hp2	a0006 a0006	a0006c0009 a0006c0010 a0006c0009 a0006c0010	a0006c0009t0002 a0006c0010t0002 a0006c0009t0002 a0006c0010t0002	a0006c0009t0002g0181 a0006c0010t0002g0062 a0006c0009t0002g0181 a0006c0010t0002g0062	2	296	0.0068	68	c.672 others(75): Show c.672_673insTCGTGCATCTCCTGCTATAGGACTCTCAACCCCAGCAC ACAAACCACCCCTCAGCAGCCCCACACCAC	p.Ile others(5): Show p.Ile225fs	ITIH6	ENSG00000102313.9	transcript	ENST00000218436.7	protein_coding	5/13	717/4964	672/3942	224/1313		chrX	TogoVar
ITIH6_chrX_54743918_54803255	54788598	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG03704.hp2 NA18985.hp2 HG03704.hp2 NA18985.hp2	a0006 a0006	a0006c0009 a0006c0010 a0006c0009 a0006c0010	a0006c0009t0002 a0006c0010t0002 a0006c0009t0002 a0006c0010t0002	a0006c0009t0002g0181 a0006c0010t0002g0062 a0006c0009t0002g0181 a0006c0010t0002g0062	2	296	0.0068	1	c.667 others(4): Show c.667dupG	p.Val others(5): Show p.Val223fs	ITIH6	ENSG00000102313.9	transcript	ENST00000218436.7	protein_coding	5/13	712/4964	667/3942	223/1313		chrX	TogoVar
ITIH6_chrX_54743918_54803255	54788607	T T	TCAGG TCAGG	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG03704.hp2 NA18985.hp2 HG03704.hp2 NA18985.hp2	a0006 a0006	a0006c0009 a0006c0010 a0006c0009 a0006c0010	a0006c0009t0002 a0006c0010t0002 a0006c0009t0002 a0006c0010t0002	a0006c0009t0002g0181 a0006c0010t0002g0062 a0006c0009t0002g0181 a0006c0010t0002g0062	2	296	0.0068	4	c.658 others(11): Show c.658_659insCCTG	p.Glu others(5): Show p.Glu220fs	ITIH6	ENSG00000102313.9	transcript	ENST00000218436.7	protein_coding	5/13	703/4964	658/3942	220/1313		chrX	TogoVar
ITM2A_chrX_79355384_79372334	79363512	TC TC	T T	frameshift_variant frameshift_variant	HIGH	NA19059.hp1 NA19059.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0041 a0003c0003t0002g0041	1	334	0.0030	-1	c.153 others(4): Show c.153delG	p.Arg others(4): Show p.Arg52fs	ITM2A	ENSG00000078596.11	transcript	ENST00000373298.7	protein_coding	2/6	272/1616	153/792	51/263		chrX	TogoVar
IVL_chr1_152903546_152916886	152910329	C C	CAGCAGGA others(25): Show CAGCAGGAGGGGCCAGCTGGAGCTCCCAGAGCA	frameshift_variant frameshift_variant	HIGH	HG02015.hp1 HG02015.hp1	a0035 a0035	a0035c0034 a0035c0034	a0035c0034t0006 a0035c0034t0006	a0035c0034t0006g0017 a0035c0034t0006g0017	1	426	0.0024	32	c.544 others(39): Show c.544_545insCAGCTGGAGCTCCCAGAGCAAGCAGGAGGGGC	p.Gln others(5): Show p.Gln182fs	IVL	ENSG00000163207.7	transcript	ENST00000368764.4	protein_coding	2/2	608/2152	545/1758	182/585	INFO_REALIGN_3_PRIME	chr1	TogoVar
IVL_chr1_152903546_152916886	152910396	A A	AGGGGCAG others(84): Show AGGGGCAGCTGGAGCTCCCAGAGCAGCAGGAGGGGCAGCTGGAGCTCCCA GAGCAGCAGGAGGGGCAGCTGGAGCTCCCAGAGCAGCAGGAG	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0026 a0026	a0026c0046 a0026c0046	a0026c0046t0002 a0026c0046t0002	a0026c0046t0002g0004 a0026c0046t0002g0004	1	426	0.0024	91	c.603 others(98): Show c.603_693dupGCAGCTGGAGCTCCCAGAGCAGCAGGAGGGGCAGCTGG AGCTCCCAGAGCAGCAGGAGGGGCAGCTGGAGCTCCCAGAGCAGCAGGAG GGG	p.Gln others(5): Show p.Gln232fs	IVL	ENSG00000163207.7	transcript	ENST00000368764.4	protein_coding	2/2	757/2152	694/1758	232/585	INFO_REALIGN_3_PRIME	chr1	TogoVar
JAK3_chr19_17819782_17852982	17830179	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG00544.hp2 HG01192.hp2 HG01934.hp1 others(6): Show HG00544.hp2 HG01192.hp2 HG01934.hp1 HG03491.hp2 NA19043.hp2 NA19054.hp2 NA19058.hp2 NA19068.hp1 NA19090.hp2	a0002 a0006 a0002 a0006	a0002c0002 a0002c0018 a0006c0012 a0002c0002 a0002c0018 a0006c0012	a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 others(4): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 a0002c0002t0014 a0002c0002t0039 a0002c0018t0007 a0006c0012t0040	a0002c0002t0001g0079 a0002c0002t0001g0097 a0002c0002t0002g0185 others(6): Show a0002c0002t0001g0079 a0002c0002t0001g0097 a0002c0002t0002g0185 a0002c0002t0002g0228 a0002c0002t0005g0282 a0002c0002t0014g0171 a0002c0002t0039g0141 a0002c0018t0007g0095 a0006c0012t0040g0366	9	414	0.0217	1	c.313 others(5): Show c.3135dupC	p.Ala others(6): Show p.Ala1046fs	JAK3	ENSG00000105639.21	transcript	ENST00000458235.7	protein_coding	23/24	3185/5386	3135/3375	1045/1124		chr19	TogoVar
JMJD8_chr16_676670_689334	683719	C C	CCGGACCA others(13): Show CCGGACCACTCTGTCCCCAAA	frameshift_variant frameshift_variant	HIGH	NA18974.hp2 NA18979.hp2 NA18974.hp2 NA18979.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0017 a0004c0008t0001g0017	2	364	0.0055	20	c.268 others(27): Show c.268_287dupTTTGGGGACAGAGTGGTCCG	p.Ser others(4): Show p.Ser98fs	JMJD8	ENSG00000161999.13	transcript	ENST00000609261.6	protein_coding	4/9	302/1934	287/795	96/264		chr16	TogoVar
JOSD1_chr22_38680543_38705943	38689118	ACACCGAC others(21): Show ACACCGACATCCCTGCAGGGGAGAAATGG	A A	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	NA18991.hp2 NA18991.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0097 a0003c0004t0002g0097	1	376	0.0027	-28	c.315 others(38): Show c.315-17_325delCCATTTCTCCCCTGCAGGGATGTCGGTG	p.Arg others(5): Show p.Arg105fs	JOSD1	ENSG00000100221.11	transcript	ENST00000683374.1	protein_coding	4/5	1100/3743	315/609	105/202		chr22	TogoVar
KANK2_chr19_11159270_11202545	11193579	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG00438.hp1 HG01169.hp1 HG01257.hp1 others(7): Show HG00438.hp1 HG01169.hp1 HG01257.hp1 HG02602.hp2 HG02738.hp1 NA18965.hp1 NA18978.hp1 NA18988.hp1 NA18989.hp1 NA18989.hp2	a0002 a0004 a0013 a0002 a0004 a0013	a0002c0014 a0002c0019 a0004c0006 others(2): Show a0002c0014 a0002c0019 a0004c0006 a0004c0024 a0013c0023	a0002c0014t0001 a0002c0014t0007 a0002c0019t0002 others(5): Show a0002c0014t0001 a0002c0014t0007 a0002c0019t0002 a0004c0006t0001 a0004c0006t0004 a0004c0006t0008 a0004c0024t0002 a0013c0023t0059	a0002c0014t0001g0197 a0002c0014t0007g0196 a0002c0019t0002g0344 others(7): Show a0002c0014t0001g0197 a0002c0014t0007g0196 a0002c0019t0002g0344 a0004c0006t0001g0164 a0004c0006t0004g0203 a0004c0006t0004g0204 a0004c0006t0004g0205 a0004c0006t0008g0206 a0004c0024t0002g0374 a0013c0023t0059g0077	10	394	0.0254	1	c.500 others(4): Show c.500dupC	p.Thr others(5): Show p.Thr168fs	KANK2	ENSG00000197256.11	transcript	ENST00000586659.6	protein_coding	4/13	839/5183	500/2556	167/851		chr19	TogoVar
KANK2_chr19_11159270_11202545	11193874	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG00597.hp2 HG00735.hp1 HG01358.hp1 others(16): Show HG00597.hp2 HG00735.hp1 HG01358.hp1 HG01978.hp2 HG01993.hp2 HG02083.hp2 HG02135.hp2 HG02738.hp1 NA18954.hp2 NA18981.hp2 NA18989.hp1 NA18989.hp2 NA18991.hp1 NA18998.hp2 NA19000.hp1 NA19057.hp2 NA19063.hp1 NA19068.hp2 NA19070.hp1	a0002 a0002	a0002c0004 a0002c0005 a0002c0011 others(3): Show a0002c0004 a0002c0005 a0002c0011 a0002c0014 a0002c0019 a0002c0020	a0002c0004t0001 a0002c0004t0004 a0002c0004t0005 others(11): Show a0002c0004t0001 a0002c0004t0004 a0002c0004t0005 a0002c0004t0007 a0002c0004t0008 a0002c0004t0015 a0002c0005t0002 a0002c0005t0003 a0002c0011t0014 a0002c0011t0041 a0002c0014t0001 a0002c0014t0007 a0002c0019t0002 a0002c0020t0003	a0002c0004t0001g0327 a0002c0004t0004g0201 a0002c0004t0005g0198 others(16): Show a0002c0004t0001g0327 a0002c0004t0004g0201 a0002c0004t0005g0198 a0002c0004t0007g0145 a0002c0004t0007g0199 a0002c0004t0008g0202 a0002c0004t0015g0200 a0002c0005t0002g0072 a0002c0005t0003g0052 a0002c0005t0003g0073 a0002c0005t0003g0074 a0002c0005t0003g0359 a0002c0005t0003g0373 a0002c0011t0014g0348 a0002c0011t0041g0349 a0002c0014t0001g0197 a0002c0014t0007g0196 a0002c0019t0002g0344 a0002c0020t0003g0143	19	394	0.0482	1	c.205 others(4): Show c.205dupC	p.Arg others(4): Show p.Arg69fs	KANK2	ENSG00000197256.11	transcript	ENST00000586659.6	protein_coding	4/13	544/5183	205/2556	69/851		chr19	TogoVar
KCNC3_chr19_50306937_50334377	50323201	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG00438.hp1 HG00597.hp2 HG01109.hp1 others(11): Show HG00438.hp1 HG00597.hp2 HG01109.hp1 HG01978.hp2 HG01981.hp1 HG02055.hp1 HG02056.hp1 HG03927.hp2 NA18947.hp2 NA18954.hp1 NA19001.hp1 NA19010.hp1 NA19030.hp1 NA19085.hp1	a0002 a0014 a0002 a0014	a0002c0003 a0002c0009 a0014c0016 a0002c0003 a0002c0009 a0014c0016	a0002c0003t0001 a0002c0003t0002 a0002c0003t0004 others(8): Show a0002c0003t0001 a0002c0003t0002 a0002c0003t0004 a0002c0003t0005 a0002c0003t0007 a0002c0003t0009 a0002c0003t0022 a0002c0003t0072 a0002c0009t0010 a0002c0009t0011 a0014c0016t0031	a0002c0003t0001g0039 a0002c0003t0001g0176 a0002c0003t0002g0065 others(10): Show a0002c0003t0001g0039 a0002c0003t0001g0176 a0002c0003t0002g0065 a0002c0003t0002g0148 a0002c0003t0004g0117 a0002c0003t0005g0233 a0002c0003t0007g0118 a0002c0003t0009g0222 a0002c0003t0022g0143 a0002c0003t0072g0219 a0002c0009t0010g0103 a0002c0009t0011g0104 a0014c0016t0031g0153	14	380	0.0368	1	c.175 others(5): Show c.1751dupC	p.Pro others(5): Show p.Pro585fs	KCNC3	ENSG00000131398.15	transcript	ENST00000477616.2	protein_coding	2/5	2046/6747	1751/2274	584/757		chr19	TogoVar
KCND1_chrX_48956380_48976844	48962743	G G	GA GA	frameshift_variant frameshift_variant	HIGH	NA18956.hp2 NA18956.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0012 a0006c0009t0012	a0006c0009t0012g0031 a0006c0009t0012g0031	1	306	0.0033	1	c.178 others(5): Show c.1781dupT	p.Val others(5): Show p.Val595fs	KCND1	ENSG00000102057.10	transcript	ENST00000218176.4	protein_coding	6/6	3354/4718	1781/1944	594/647		chrX	TogoVar
KCND1_chrX_48956380_48976844	48970026	GT GT	G G	frameshift_variant frameshift_variant	HIGH	NA19062.hp1 NA19062.hp1	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0009 a0004c0011t0009	a0004c0011t0009g0028 a0004c0011t0009g0028	1	306	0.0033	-1	c.245 others(4): Show c.245delA	p.Tyr others(4): Show p.Tyr82fs	KCND1	ENSG00000102057.10	transcript	ENST00000218176.4	protein_coding	1/6	1818/4718	245/1944	82/647		chrX	TogoVar
KCND1_chrX_48956380_48976844	48970201	T T	TG TG	frameshift_variant frameshift_variant	HIGH	NA19062.hp1 NA19062.hp1	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0009 a0004c0011t0009	a0004c0011t0009g0028 a0004c0011t0009g0028	1	306	0.0033	1	c.70d others(3): Show c.70dupC	p.Gln others(4): Show p.Gln24fs	KCND1	ENSG00000102057.10	transcript	ENST00000218176.4	protein_coding	1/6	1643/4718	70/1944	24/647		chrX	TogoVar
KCNE5_chrX_109618700_109630172	109624627	G G	GC GC	frameshift_variant frameshift_variant	HIGH	HG00408.hp2 HG00408.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0014 a0004c0007t0014	a0004c0007t0014g0000 a0004c0007t0014g0000	1	295	0.0034	1	c.393 others(4): Show c.393dupG	p.Leu others(5): Show p.Leu132fs	KCNE5	ENSG00000176076.7	transcript	ENST00000372101.3	protein_coding	1/1	545/1473	393/429	131/142		chrX	TogoVar
KCNE5_chrX_109618700_109630172	109624659	GC GC	G G	frameshift_variant frameshift_variant	HIGH	HG00408.hp2 HG00408.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0014 a0004c0007t0014	a0004c0007t0014g0000 a0004c0007t0014g0000	1	295	0.0034	-1	c.361 others(4): Show c.361delG	p.Ala others(5): Show p.Ala121fs	KCNE5	ENSG00000176076.7	transcript	ENST00000372101.3	protein_coding	1/1	513/1473	361/429	121/142		chrX	TogoVar
KCNE5_chrX_109618700_109630172	109624791	A A	AG AG	frameshift_variant frameshift_variant	HIGH	HG00408.hp2 HG00408.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0014 a0004c0007t0014	a0004c0007t0014g0000 a0004c0007t0014g0000	1	295	0.0034	1	c.229 others(4): Show c.229dupC	p.Leu others(4): Show p.Leu77fs	KCNE5	ENSG00000176076.7	transcript	ENST00000372101.3	protein_coding	1/1	381/1473	229/429	77/142		chrX	TogoVar
KCNE5_chrX_109618700_109630172	109624875	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG00408.hp2 HG00408.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0014 a0004c0007t0014	a0004c0007t0014g0000 a0004c0007t0014g0000	1	295	0.0034	1	c.145 others(4): Show c.145dupC	p.Arg others(4): Show p.Arg49fs	KCNE5	ENSG00000176076.7	transcript	ENST00000372101.3	protein_coding	1/1	297/1473	145/429	49/142		chrX	TogoVar
KCNE5_chrX_109618700_109630172	109624963	G G	GC GC	frameshift_variant frameshift_variant	HIGH	HG00408.hp2 HG00408.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0014 a0004c0007t0014	a0004c0007t0014g0000 a0004c0007t0014g0000	1	295	0.0034	1	c.57d others(3): Show c.57dupG	p.Leu others(4): Show p.Leu20fs	KCNE5	ENSG00000176076.7	transcript	ENST00000372101.3	protein_coding	1/1	209/1473	57/429	19/142		chrX	TogoVar
KCNMB3_chr3_179237771_179256114	179242978	CT CT	C C	frameshift_variant frameshift_variant	HIGH	HG00735.hp2 HG00738.hp2 HG01069.hp1 others(31): Show HG00735.hp2 HG00738.hp2 HG01069.hp1 HG01071.hp2 HG01099.hp2 HG01167.hp1 HG01169.hp1 HG01192.hp2 HG01243.hp1 HG01433.hp2 HG01516.hp1 HG01978.hp2 HG02257.hp1 HG02559.hp1 HG02572.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02965.hp1 HG03130.hp1 HG03195.hp2 HG03209.hp2 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03516.hp1 HG03516.hp2 NA19240.hp1 NA20129.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0004 a0003c0003t0002 a0003c0003t0004	a0003c0003t0002g0002 a0003c0003t0002g0016 a0003c0003t0002g0024 others(5): Show a0003c0003t0002g0002 a0003c0003t0002g0016 a0003c0003t0002g0024 a0003c0003t0002g0085 a0003c0003t0002g0088 a0003c0003t0002g0091 a0003c0003t0002g0092 a0003c0003t0004g0118	34	370	0.0919	-1	c.753 others(4): Show c.753delA	p.Val others(5): Show p.Val252fs	KCNMB3	ENSG00000171121.17	transcript	ENST00000392685.7	protein_coding	3/3	877/1085	753/828	251/275		chr3	TogoVar
KCNN1_chr19_17962107_18005085	17998301	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG01192.hp1 HG01952.hp2 HG03669.hp1 others(6): Show HG01192.hp1 HG01952.hp2 HG03669.hp1 HG04204.hp1 NA18979.hp1 NA18979.hp2 NA18993.hp2 NA19060.hp1 NA20300.hp1	a0000 a0000	a0000c0002 a0000c0009 a0000c0002 a0000c0009	a0000c0002t0001 a0000c0002t0002 a0000c0002t0007 others(1): Show a0000c0002t0001 a0000c0002t0002 a0000c0002t0007 a0000c0009t0002	a0000c0002t0001g0027 a0000c0002t0001g0198 a0000c0002t0001g0358 others(6): Show a0000c0002t0001g0027 a0000c0002t0001g0198 a0000c0002t0001g0358 a0000c0002t0002g0170 a0000c0002t0002g0173 a0000c0002t0002g0216 a0000c0002t0002g0277 a0000c0002t0007g0137 a0000c0009t0002g0224	9	378	0.0238	1	c.153 others(5): Show c.1532dupC	p.Pro others(5): Show p.Pro512fs	KCNN1	ENSG00000105642.16	transcript	ENST00000684775.1	protein_coding	10/10	1825/3603	1533/1632	511/543	INFO_REALIGN_3_PRIME	chr19	TogoVar
KCNV1_chr8_109958636_109980771	109974275	C C	CCCGAGCG others(39): Show CCCGAGCGCCAAGGGCTCCCCTTCACCCTCGCTGCAGAAGACACTAG	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA18987.hp1 NA18987.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0035 a0002c0004t0002g0035	1	372	0.0027	46	c.68_ others(52): Show c.68_113dupCTAGTGTCTTCTGCAGCGAGGGTGAAGGGGAGCCCTTGG CGCTCGG	p.Asp others(4): Show p.Asp39fs	KCNV1	ENSG00000164794.9	transcript	ENST00000524391.6	protein_coding	2/4	1070/6912	113/1503	38/500		chr8	TogoVar
KCTD1_chr18_26449910_26553553	26547048	T T	TG TG	frameshift_variant frameshift_variant	HIGH	HG00438.hp2 HG00621.hp2 HG00673.hp2 others(32): Show HG00438.hp2 HG00621.hp2 HG00673.hp2 HG00741.hp1 HG01106.hp1 HG01109.hp1 HG01175.hp2 HG01192.hp2 HG01261.hp1 HG01361.hp1 HG01433.hp1 HG01517.hp1 HG01934.hp2 HG01952.hp2 HG02015.hp1 HG02027.hp1 HG02055.hp1 HG02056.hp2 HG02145.hp2 HG02572.hp2 HG02615.hp1 HG02886.hp1 HG03139.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04184.hp1 NA18942.hp1 NA18978.hp1 NA18983.hp1 NA18994.hp2 NA19056.hp1 NA19068.hp2 NA19077.hp1 NA19083.hp1	a0002 a0002	a0002c0003 a0002c0006 a0002c0014 others(1): Show a0002c0003 a0002c0006 a0002c0014 a0002c0016	a0002c0003t0001 a0002c0003t0002 a0002c0003t0004 others(4): Show a0002c0003t0001 a0002c0003t0002 a0002c0003t0004 a0002c0003t0005 a0002c0006t0001 a0002c0014t0003 a0002c0016t0001	a0002c0003t0001g0300 a0002c0003t0001g0301 a0002c0003t0001g0302 others(32): Show a0002c0003t0001g0300 a0002c0003t0001g0301 a0002c0003t0001g0302 a0002c0003t0001g0303 a0002c0003t0001g0306 a0002c0003t0001g0308 a0002c0003t0001g0309 a0002c0003t0001g0310 a0002c0003t0001g0311 a0002c0003t0001g0312 a0002c0003t0001g0314 a0002c0003t0001g0315 a0002c0003t0001g0316 a0002c0003t0001g0319 a0002c0003t0001g0320 a0002c0003t0001g0321 a0002c0003t0001g0322 a0002c0003t0001g0323 a0002c0003t0001g0324 a0002c0003t0001g0325 a0002c0003t0001g0326 a0002c0003t0001g0328 a0002c0003t0001g0329 a0002c0003t0002g0304 a0002c0003t0002g0307 a0002c0003t0002g0317 a0002c0003t0002g0318 a0002c0003t0004g0313 a0002c0003t0005g0327 a0002c0006t0001g0051 a0002c0006t0001g0052 a0002c0006t0001g0053 a0002c0006t0001g0054 a0002c0014t0003g0305 a0002c0016t0001g0334	35	338	0.1036	1	c.148 others(5): Show c.1488dupC	p.Thr others(5): Show p.Thr497fs	KCTD1	ENSG00000134504.14	transcript	ENST00000580059.7	protein_coding	1/5	1505/3448	1488/2598	496/865		chr18	TogoVar
KDM2B_chr12_121424096_121586023	121509791	TAGACAAA others(12): Show TAGACAAAGTCCTTTTGAGG	T T	frameshift_variant frameshift_variant	HIGH	HG01433.hp1 HG01433.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0238 a0004c0009t0001g0238	1	270	0.0037	-19	c.140 others(28): Show c.1404_1422delCCTCAAAAGGACTTTGTCT	p.Phe others(5): Show p.Phe468fs	KDM2B	ENSG00000089094.20	transcript	ENST00000377071.9	protein_coding	11/23	1534/5315	1404/4011	468/1336		chr12	TogoVar
KDM4F_chr11_95044422_95056338	95050554	TAACCAGC others(4): Show TAACCAGCTGTC	T T	frameshift_variant frameshift_variant	HIGH	HG02896.hp2 HG02896.hp2	a0017 a0017	a0017c0016 a0017c0016	a0017c0016t0000 a0017c0016t0000	a0017c0016t0000g0000 a0017c0016t0000g0000	1	440	0.0023	-11	c.113 others(20): Show c.1134_1144delAACCAGCTGTC	p.Thr others(5): Show p.Thr379fs	KDM4F	ENSG00000255855.4	transcript	ENST00000711328.1	protein_coding	1/1	1134/1917	1134/1917	378/638		chr11	TogoVar
KDM5A_chr12_275057_394320	307512	TTTTCTCG others(7): Show TTTTCTCGAGCCGCC	T T	frameshift_variant frameshift_variant	HIGH	NA19089.hp1 NA19089.hp1	a0012 a0012	a0012c0021 a0012c0021	a0012c0021t0011 a0012c0021t0011	a0012c0021t0011g0223 a0012c0021t0011g0223	1	350	0.0029	-14	c.385 others(23): Show c.3858_3871delGGCGGCTCGAGAAA	p.Ala others(6): Show p.Ala1287fs	KDM5A	ENSG00000073614.13	transcript	ENST00000399788.7	protein_coding	23/28	4100/10701	3858/5073	1286/1690		chr12	TogoVar
KDM5C_chrX_53187158_53230207	53193041	AG AG	A A	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0006 a0004c0004t0006	a0004c0004t0006g0046 a0004c0004t0006g0046	1	241	0.0042	-1	c.460 others(5): Show c.4608delC	p.Ser others(6): Show p.Ser1537fs	KDM5C	ENSG00000126012.13	transcript	ENST00000375401.8	protein_coding	26/26	4926/5810	4608/4683	1536/1560		chrX	TogoVar
KDM5C_chrX_53187158_53230207	53193119	T T	TG TG	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0006 a0004c0004t0006	a0004c0004t0006g0046 a0004c0004t0006g0046	1	241	0.0042	1	c.453 others(5): Show c.4530dupC	p.Ile others(6): Show p.Ile1511fs	KDM5C	ENSG00000126012.13	transcript	ENST00000375401.8	protein_coding	26/26	4848/5810	4530/4683	1510/1560		chrX	TogoVar
KDM5C_chrX_53187158_53230207	53193146	T T	TC TC	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0006 a0004c0004t0006	a0004c0004t0006g0046 a0004c0004t0006g0046	1	241	0.0042	1	c.450 others(5): Show c.4503dupG	p.Thr others(6): Show p.Thr1502fs	KDM5C	ENSG00000126012.13	transcript	ENST00000375401.8	protein_coding	26/26	4821/5810	4503/4683	1501/1560		chrX	TogoVar
KDM5C_chrX_53187158_53230207	53193172	TG TG	T T	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0006 a0004c0004t0006	a0004c0004t0006g0046 a0004c0004t0006g0046	1	241	0.0042	-1	c.447 others(5): Show c.4477delC	p.Gln others(6): Show p.Gln1493fs	KDM5C	ENSG00000126012.13	transcript	ENST00000375401.8	protein_coding	26/26	4795/5810	4477/4683	1493/1560		chrX	TogoVar
KDM5C_chrX_53187158_53230207	53193218	C C	CT CT	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0006 a0004c0004t0006	a0004c0004t0006g0046 a0004c0004t0006g0046	1	241	0.0042	1	c.443 others(5): Show c.4431dupA	p.Glu others(6): Show p.Glu1478fs	KDM5C	ENSG00000126012.13	transcript	ENST00000375401.8	protein_coding	26/26	4749/5810	4431/4683	1477/1560		chrX	TogoVar
KDM5C_chrX_53187158_53230207	53193516	AG AG	A A	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0006 a0004c0004t0006	a0004c0004t0006g0046 a0004c0004t0006g0046	1	241	0.0042	-1	c.423 others(5): Show c.4237delC	p.Leu others(6): Show p.Leu1413fs	KDM5C	ENSG00000126012.13	transcript	ENST00000375401.8	protein_coding	25/26	4555/5810	4237/4683	1413/1560		chrX	TogoVar

Search by Variant

Search

Search Results (Total: 5828 hits)