Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
KLHL3_chr5_137612500_137741089	137682403	T T	TAGAGAGA others(27): Show TAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00639.hp2 HG01106.hp1 others(3): Show HG00140.hp1 HG00639.hp2 HG01106.hp1 HG03139.hp1 NA19010.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0018 a0001c0001t0019	a0001c0001t0001g0090 a0001c0001t0002g0070 a0001c0001t0002g0158 others(3): Show a0001c0001t0001g0090 a0001c0001t0002g0070 a0001c0001t0002g0158 a0001c0001t0004g0062 a0001c0001t0018g0089 a0001c0001t0019g0068	6	13	0.4615	34	c.527 others(51): Show c.527-4750_527-4749insCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCT	KLHL3	ENSG00000146021.15	transcript	ENST00000309755.9	protein_coding	5/14			chr5	TogoVar
KLHL5_chr4_39057232_39131233	39101124	T T	TTATATAC others(27): Show TTATATACATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0192 a0001c0001t0003g0192	1	92	0.0109	34	c.130 others(53): Show c.1301-2162_1301-2161insATATACATATATATATATATATATAT ATATATAT	KLHL5	ENSG00000109790.18	transcript	ENST00000504108.7	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
KLK10_chr19_51007739_51024709	51020198	C C	CAGAGAGA others(27): Show CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0002 a0001c0012t0002	a0001c0012t0002g0099 a0001c0012t0002g0099	1	276	0.0036	34	c.-58 others(43): Show c.-582_-581insCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	KLK10	ENSG00000129451.12	transcript	ENST00000358789.8	protein_coding		490		chr19	TogoVar
KLK11_chr19_51017236_51031616	51020198	C C	CAGAGAGA others(27): Show CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	276	0.0036	34	c.23 others(45): Show c.2346_*2347insCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	KLK11	ENSG00000167757.14	transcript	ENST00000453757.8	protein_coding		2037		chr19	TogoVar
KLK11_chr19_51017236_51031616	51031595	C C	CATACATA others(27): Show CATACATACATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0022	1	186	0.0054	34	c.-50 others(45): Show c.-5094_-5093insATATATATATATATATATATATATATGTATGTAT	KLK11	ENSG00000167757.14	transcript	ENST00000453757.8	protein_coding		4980		chr19	TogoVar
KLK11_chr19_51017236_51031616	51031595	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG01168.hp2 HG02083.hp1 others(4): Show HG00738.hp1 HG01168.hp2 HG02083.hp1 NA19000.hp2 NA19066.hp1 NA19078.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0009	a0001c0001t0001g0001 a0001c0001t0001g0075 a0001c0001t0001g0083 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0075 a0001c0001t0001g0083 a0001c0001t0002g0002 a0001c0001t0002g0064 a0002c0002t0001g0005 a0002c0002t0009g0079	7	192	0.0365	34	c.-50 others(45): Show c.-5094_-5093insATATATATATATATATATATATATATATATATAT	KLK11	ENSG00000167757.14	transcript	ENST00000453757.8	protein_coding		4980		chr19	TogoVar
KLK12_chr19_51024094_51040002	51031595	C C	CATACATA others(27): Show CATACATACATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0106 a0001c0001t0003g0106	1	186	0.0054	34	c.457 others(49): Show c.457+280_457+281insATATATATATATATATATATATATATGTAT GTAT	KLK12	ENSG00000186474.16	transcript	ENST00000684732.1	protein_coding	4/5			chr19	TogoVar
KLK12_chr19_51024094_51040002	51031595	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01168.hp1 HG02083.hp1 others(3): Show HG00738.hp2 HG01168.hp1 HG02083.hp1 NA19000.hp1 NA19066.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0080 a0001c0001t0002g0053 a0001c0001t0002g0117 others(2): Show a0001c0001t0001g0080 a0001c0001t0002g0053 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0131	6	191	0.0314	34	c.457 others(49): Show c.457+280_457+281insATATATATATATATATATATATATATATAT ATAT	KLK12	ENSG00000186474.16	transcript	ENST00000684732.1	protein_coding	4/5			chr19	TogoVar
KLK1_chr19_50814146_50828787	50815719	C C	CAGGAGAA others(27): Show CAGGAGAATCCCTCATCCAGGGTTATGTGAGTTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	420	0.0024	34	c.34 others(45): Show c.3474_*3475insCCAACTCACATAACCCTGGATGAGGGATTCTCCT	KLK1	ENSG00000167748.11	transcript	ENST00000301420.3	protein_coding		3426		chr19	TogoVar
KLK4_chr19_50901351_50916395	50912372	G G	GAGGAGGG others(27): Show GAGGAGGGCAGGGCGGGTAGGAGGGCAGGGCGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02723.hp2 HG02818.hp1 others(2): Show HG02109.hp2 HG02723.hp2 HG02818.hp1 NA18906.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0002c0004 a0001c0001 a0002c0003 a0002c0004	a0001c0001t0002 a0001c0001t0005 a0002c0003t0002 others(1): Show a0001c0001t0002 a0001c0001t0005 a0002c0003t0002 a0002c0004t0005	a0001c0001t0002g0130 a0001c0001t0005g0131 a0002c0003t0002g0096 others(1): Show a0001c0001t0002g0130 a0001c0001t0005g0131 a0002c0003t0002g0096 a0002c0004t0005g0017	5	270	0.0185	34	c.-10 others(45): Show c.-1046_-1045insACCCGCCCTGCCCTCCTACCCGCCCTGCCCTCCT	KLK4	ENSG00000167749.12	transcript	ENST00000324041.6	protein_coding		978		chr19	TogoVar
KLRB1_chr12_9589551_9612916	9607335	C C	CCTTCCTT others(27): Show CCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02451.hp1 HG02615.hp2 HG01167.hp2 HG02451.hp1 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0051 a0001c0001t0006g0220 a0001c0001t0006g0051 a0001c0001t0006g0220	3	224	0.0134	34	c.85+ others(47): Show c.85+419_85+420insAGAAAGAAAGAAAGAAAGGAAGGAAGGAAGGA AG	KLRB1	ENSG00000111796.4	transcript	ENST00000229402.4	protein_coding	1/5			chr12	TogoVar
KLRB1_chr12_9589551_9612916	9607415	T T	TTTCTTTT others(27): Show TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTTG	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19090.hp2 NA19085.hp1 NA19090.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0187 a0002c0002t0001g0188 a0002c0002t0001g0187 a0002c0002t0001g0188	2	239	0.0084	34	c.85+ others(47): Show c.85+339_85+340insCAAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AA	KLRB1	ENSG00000111796.4	transcript	ENST00000229402.4	protein_coding	1/5			chr12	TogoVar
KMT2C_chr7_152129925_152441003	152215688	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01891.hp1 HG02109.hp2 others(5): Show HG00438.hp1 HG01891.hp1 HG02109.hp2 HG03490.hp2 HG03492.hp1 HG03927.hp2 NA18906.hp1 NA18940.hp1	a0001 a0002 a0001 a0002	a0001c0006 a0002c0002 a0002c0007 a0001c0006 a0002c0002 a0002c0007	a0001c0006t0002 a0002c0002t0002 a0002c0007t0002 others(1): Show a0001c0006t0002 a0002c0002t0002 a0002c0007t0002 a0002c0007t0008	a0001c0006t0002g0095 a0001c0006t0002g0127 a0002c0002t0002g0064 others(5): Show a0001c0006t0002g0095 a0001c0006t0002g0127 a0002c0002t0002g0064 a0002c0002t0002g0067 a0002c0002t0002g0068 a0002c0007t0002g0017 a0002c0007t0002g0052 a0002c0007t0008g0021	8	120	0.0667	34	c.371 others(53): Show c.3712+4834_3712+4835insGTGTATATATATATATATATATATAT ATATATAT	KMT2C	ENSG00000055609.21	transcript	ENST00000262189.11	protein_coding	23/58			chr7	TogoVar
KMT2C_chr7_152129925_152441003	152235207	G G	GTATATAT others(27): Show GTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00438.hp1 NA18977.hp1 HG00438.hp1 NA18977.hp1	a0001 a0018 a0001 a0018	a0001c0006 a0018c0021 a0001c0006 a0018c0021	a0001c0006t0002 a0018c0021t0007 a0001c0006t0002 a0018c0021t0007	a0001c0006t0002g0095 a0018c0021t0007g0013 a0001c0006t0002g0095 a0018c0021t0007g0013	2	102	0.0196	34	c.276 others(51): Show c.2769+609_2769+610insTATATATATATATATATATATATATATA TATATA	KMT2C	ENSG00000055609.21	transcript	ENST00000262189.11	protein_coding	16/58			chr7	TogoVar
KMT2C_chr7_152129925_152441003	152235207	G G	GTATGTAT others(27): Show GTATGTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0027 a0002c0004t0002g0027	1	101	0.0099	34	c.276 others(51): Show c.2769+609_2769+610insTATATATATATATATATATATATATATA TACATA	KMT2C	ENSG00000055609.21	transcript	ENST00000262189.11	protein_coding	16/58			chr7	TogoVar
KNDC1_chr10_133155219_133231412	133159947	C C	CGCCCCGC others(27): Show CGCCCCGCCCCCTCCCGGGCCCCGCCCCCTCCCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0005 a0005	a0005c0021 a0005c0021	a0005c0021t0002 a0005c0021t0002	a0005c0021t0002g0287 a0005c0021t0002g0287	1	108	0.0093	34	c.-52 others(43): Show c.-521_-520insGCCCCGCCCCCTCCCGGGCCCCGCCCCCTCCCGG	KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding		271		chr10	TogoVar
KPNA7_chr7_99168572_99213115	99181103	G G	GTCTCTCT others(27): Show GTCTCTCTCTCTCTCTCTCCGTCTGTGTCTCTCTC	intron_variant intron_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0043 a0001c0003t0001g0043	1	122	0.0082	34	c.131 others(51): Show c.1317+779_1317+780insGAGAGAGACACAGACGGAGAGAGAGAGA GAGAGA	KPNA7	ENSG00000185467.8	transcript	ENST00000327442.7	protein_coding	9/10			chr7	TogoVar
KPNA7_chr7_99168572_99213115	99181123	C C	CTCTCTCT others(27): Show CTCTCTCTCCGTCTGTGTCTCTCTCTCCGTCTGTG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0242	1	328	0.0030	34	c.131 others(51): Show c.1317+726_1317+759dupCACAGACGGAGAGAGAGACACAGACGGA GAGAGA	KPNA7	ENSG00000185467.8	transcript	ENST00000327442.7	protein_coding	9/10			chr7	TogoVar
KRBA2_chr17_8353822_8381704	8374937	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03942.hp1 NA19077.hp1 HG03942.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0009 a0001c0001t0001 a0001c0002t0009	a0001c0001t0001g0171 a0001c0002t0009g0090 a0001c0001t0001g0171 a0001c0002t0009g0090	2	49	0.0408	34	c.-21 others(49): Show c.-21+962_-21+963insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	KRBA2	ENSG00000184619.8	transcript	ENST00000396267.3	protein_coding	1/1			chr17	TogoVar
KRT18_chr12_52944118_52957906	52952949	G G	GCTAACAA others(27): Show GCTAACAAAGTTCATTGGCTGTTTCATTCCAGAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	406	0.0025	34	c.10 others(43): Show c.107_*108insCTAACAAAGTTCATTGGCTGTTTCATTCCAGAAT	KRT18	ENSG00000111057.11	transcript	ENST00000388835.4	protein_coding		44		chr12	TogoVar
KRT31_chr17_41388721_41402608	41401896	C C	CACTCCAG others(27): Show CACTCCAGCCTGGGCGACAGCAAGACCCCATCTAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	452	0.0022	34	c.-43 others(45): Show c.-4358_-4357insTTAGATGGGGTCTTGCTGTCGCCCAGGCTGGAGT	KRT31	ENSG00000094796.5	transcript	ENST00000251645.3	protein_coding		4289		chr17	TogoVar
KRT40_chr17_40972715_40989326	40974724	C C	CTTTCTTT others(27): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00642.hp1 HG00741.hp1 others(24): Show HG00099.hp1 HG00642.hp1 HG00741.hp1 HG01074.hp1 HG01168.hp2 HG01243.hp1 HG02155.hp1 HG02293.hp1 HG02630.hp2 HG02698.hp1 HG02735.hp1 HG02895.hp2 HG02896.hp2 HG02970.hp2 HG03130.hp2 HG03209.hp1 HG03239.hp2 HG03486.hp1 NA18522.hp1 NA18906.hp1 NA18959.hp1 NA19043.hp2 NA19074.hp1 NA19075.hp1 NA19086.hp1 NA19240.hp2 NA20752.hp2	a0004 a0005 a0006 others(2): Show a0004 a0005 a0006 a0011 a0012	a0004c0005 a0004c0007 a0005c0004 others(3): Show a0004c0005 a0004c0007 a0005c0004 a0006c0006 a0011c0012 a0012c0014	a0004c0005t0002 a0004c0007t0002 a0005c0004t0002 others(3): Show a0004c0005t0002 a0004c0007t0002 a0005c0004t0002 a0006c0006t0002 a0011c0012t0002 a0012c0014t0005	a0004c0005t0002g0015 a0004c0005t0002g0025 a0004c0007t0002g0023 others(7): Show a0004c0005t0002g0015 a0004c0005t0002g0025 a0004c0007t0002g0023 a0005c0004t0002g0003 a0005c0004t0002g0071 a0006c0006t0002g0006 a0006c0006t0002g0024 a0006c0006t0002g0031 a0011c0012t0002g0022 a0012c0014t0005g0027	27	355	0.0761	34	c.34 others(45): Show c.3472_*3473insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	KRT40	ENSG00000204889.11	transcript	ENST00000377755.9	protein_coding		2990		chr17	TogoVar
KRT78_chr12_52832807_52853994	52842959	G G	GAGAGAGA others(27): Show GAGAGAGAGAAAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0107 a0004c0004t0002g0107	1	263	0.0038	34	c.104 others(53): Show c.1047+1133_1047+1134insTCCTTCCTTCCTTCCTTCCTTCCTTT CTCTCTCT	KRT78	ENSG00000170423.13	transcript	ENST00000304620.5	protein_coding	6/8			chr12	TogoVar
KRT85_chr12_52355006_52372481	52368883	G G	GGGGGGGT others(27): Show GGGGGGGTCTAAGTGTGTCGTTCAGGCAGTTGGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	416	0.0024	34	c.-14 others(45): Show c.-1479_-1478insTACCAACTGCCTGAACGACACACTTAGACCCCCC	KRT85	ENSG00000135443.8	transcript	ENST00000257901.7	protein_coding		1403		chr12	TogoVar
KRTAP1-1_chr17_41035541_41046450	41035727	C C	CTTTCTTT others(27): Show CTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0000 a0005c0005t0001g0000	1	369	0.0027	34	c.51 others(45): Show c.5136_*5137insAAGAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAA	KRTAP1-1	ENSG00000188581.9	transcript	ENST00000306271.5	protein_coding		4813		chr17	TogoVar
KRTAP1-3_chr17_41028884_41039874	41035727	C C	CTTTCTTT others(27): Show CTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0000 a0002c0002t0005g0000	1	398	0.0025	34	c.-90 others(43): Show c.-907_-906insAAGAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAA	KRTAP1-3	ENSG00000221880.4	transcript	ENST00000344363.7	protein_coding		854		chr17	TogoVar
KRTAP10-12_chr21_44692172_44703044	44701718	G G	GGTAAAGC others(27): Show GGTAAAGCTCACTCACCTGCCACTCCCCTCCGGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02922.hp1 HG02976.hp2 HG02280.hp1 HG02922.hp1 HG02976.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0000 a0004c0005t0001g0000	3	346	0.0087	34	c.37 others(45): Show c.3779_*3780insGTAAAGCTCACTCACCTGCCACTCCCCTCCGGCT	KRTAP10-12	ENSG00000189169.8	transcript	ENST00000400365.3	protein_coding		3675		chr21	TogoVar
KRTAP10-7_chr21_44595597_44607174	44599134	T T	TTCTCTCT others(27): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp2 HG02071.hp1 HG02976.hp1 others(2): Show HG01255.hp2 HG02071.hp1 HG02976.hp1 HG03017.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0000 a0001c0001t0003g0000 a0001c0001t0001g0000 a0001c0001t0003g0000	5	30	0.1667	34	c.-14 others(45): Show c.-1488_-1487insTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	KRTAP10-7	ENSG00000272804.3	transcript	ENST00000609664.2	protein_coding		1462		chr21	TogoVar
KRTAP10-7_chr21_44595597_44607174	44599171	T T	TCTCTCTC others(27): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	441	0.0023	34	c.-14 others(45): Show c.-1451_-1450insCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCC	KRTAP10-7	ENSG00000272804.3	transcript	ENST00000609664.2	protein_coding		1425		chr21	TogoVar
KRTAP19-7_chr21_30555875_30566314	30562387	A A	ATATACAT others(27): Show ATATACATATATATATATACATATATATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp1 HG02976.hp2 HG02818.hp1 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	420	0.0048	34	c.-10 others(45): Show c.-1099_-1098insCATATATATATATATGTATATATATATATGTATA	KRTAP19-7	ENSG00000244362.3	transcript	ENST00000334849.2	protein_coding		1074		chr21	TogoVar
KRTAP19-7_chr21_30555875_30566314	30562392	T T	TATATATA others(27): Show TATATATATATACACACATATATATATATATACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02615.hp1 HG02630.hp2 others(2): Show HG02572.hp1 HG02615.hp1 HG02630.hp2 HG03195.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	5	406	0.0123	34	c.-11 others(45): Show c.-1104_-1103insGTGTATATATATATATATGTGTGTATATATATAT	KRTAP19-7	ENSG00000244362.3	transcript	ENST00000334849.2	protein_coding		1079		chr21	TogoVar
KRTAP3-1_chr17_41003521_41014128	41007665	G G	GTATATAT others(27): Show GTATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 NA18995.hp1 NA19058.hp1 HG00558.hp2 NA18995.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	3	236	0.0127	34	c.11 others(45): Show c.1112_*1113insTATATATATATATATATATATATATATATATATA	KRTAP3-1	ENSG00000212901.4	transcript	ENST00000391588.3	protein_coding		855		chr17	TogoVar
KRTAP3-2_chr17_40994193_41004906	41001915	G G	GTGTGTGT others(27): Show GTGTGTGTGTGTATGTGTGTGTGTGTGTGTGTGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	448	0.0022	34	c.-20 others(45): Show c.-2063_-2062insTACACACACACACACACACACATACACACACACA	KRTAP3-2	ENSG00000212900.3	transcript	ENST00000391587.3	protein_coding		2010		chr17	TogoVar
KRTAP5-1_chr11_1579342_1590283	1583879	G G	GGTGTGTG others(27): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00438.hp2 HG00558.hp1 others(8): Show HG00140.hp1 HG00438.hp2 HG00558.hp1 HG01516.hp1 HG02897.hp1 HG03041.hp2 HG03130.hp1 NA18959.hp1 NA18979.hp1 NA18993.hp1 NA19065.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0003c0003t0001 a0002c0002t0001 a0003c0003t0001	a0002c0002t0001g0000 a0003c0003t0001g0000 a0002c0002t0001g0000 a0003c0003t0001g0000	11	127	0.0866	34	c.53 others(43): Show c.533_*534insACACACACACACACACACACACACACACACACAC	KRTAP5-1	ENSG00000205869.2	transcript	ENST00000382171.2	protein_coding		462		chr11	TogoVar
KSR2_chr12_117448012_117973990	117611445	G G	GACACACA others(27): Show GACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp1 HG03491.hp2 HG03492.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0010 a0002c0010t0010	a0002c0010t0010g0049 a0002c0010t0010g0050 a0002c0010t0010g0049 a0002c0010t0010g0050	2	48	0.0417	34	c.117 others(55): Show c.1172-29087_1172-29086insGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGT	KSR2	ENSG00000171435.15	transcript	ENST00000339824.7	protein_coding	5/19			chr12	TogoVar
KSR2_chr12_117448012_117973990	117656941	G G	GAGATATA others(27): Show GAGATATATATATATATATATATAATAGGAGATAT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02040.hp2 HG02965.hp1 HG00609.hp1 HG02040.hp2 HG02965.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0002t0010 a0001c0004t0006 a0001c0002t0001 a0001c0002t0010 a0001c0004t0006	a0001c0002t0001g0166 a0001c0002t0010g0058 a0001c0004t0006g0173 a0001c0002t0001g0166 a0001c0002t0010g0058 a0001c0004t0006g0173	3	62	0.0484	34	c.117 others(55): Show c.1171+10532_1171+10533insATATCTCCTATTATATATATATAT ATATATATCT	KSR2	ENSG00000171435.15	transcript	ENST00000339824.7	protein_coding	5/19			chr12	TogoVar
KSR2_chr12_117448012_117973990	117848773	A A	ATGATGGT others(27): Show ATGATGGTGGTGGGTGGTGATGGTGGTAACAACAG	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0060 a0001c0003t0060	a0001c0003t0060g0052 a0001c0003t0060g0052	1	173	0.0058	34	c.472 others(51): Show c.472+6621_472+6654dupCTGTTGTTACCACCATCACCACCCACCA CCATCA	KSR2	ENSG00000171435.15	transcript	ENST00000339824.7	protein_coding	3/19			chr12	TogoVar
KSR2_chr12_117448012_117973990	117848773	A A	ATGATGGT others(27): Show ATGATGGTGGTGGGTGGTGATGGTGGTAACAACGG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG01074.hp2 others(18): Show HG00280.hp1 HG00323.hp1 HG01074.hp2 HG01109.hp1 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01496.hp1 HG01975.hp1 HG01975.hp2 HG01993.hp1 HG02004.hp2 HG02040.hp2 HG02109.hp1 HG02572.hp1 HG02976.hp1 HG03130.hp1 HG03486.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0015 a0004c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0013 a0001c0001t0036 a0001c0001t0063 a0001c0001t0077 a0001c0001t0101 a0001c0001t0126 a0001c0001t0132 a0001c0002t0001 a0001c0002t0005 a0001c0002t0039 a0001c0002t0048 a0001c0002t0058 a0001c0002t0103 a0001c0004t0024 a0001c0004t0087 a0001c0004t0129 a0001c0015t0020 a0004c0016t0014	a0001c0001t0001g0125 a0001c0001t0002g0164 a0001c0001t0009g0040 others(18): Show a0001c0001t0001g0125 a0001c0001t0002g0164 a0001c0001t0009g0040 a0001c0001t0013g0128 a0001c0001t0036g0026 a0001c0001t0063g0053 a0001c0001t0077g0078 a0001c0001t0101g0107 a0001c0001t0126g0182 a0001c0001t0132g0194 a0001c0002t0001g0166 a0001c0002t0005g0075 a0001c0002t0039g0028 a0001c0002t0048g0039 a0001c0002t0058g0048 a0001c0002t0103g0110 a0001c0004t0024g0093 a0001c0004t0087g0105 a0001c0004t0129g0185 a0001c0015t0020g0142 a0004c0016t0014g0099	21	193	0.1088	34	c.472 others(51): Show c.472+6654_472+6655insCCGTTGTTACCACCATCACCACCCACCA CCATCA	KSR2	ENSG00000171435.15	transcript	ENST00000339824.7	protein_coding	3/19			chr12	TogoVar
KYAT1_chr9_128827942_128886950	128865359	A A	ATATATAT others(27): Show ATATATATATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0194 a0001c0001t0002g0194	1	30	0.0333	34	c.-7+ others(51): Show c.-7+16537_-7+16538insAAAAAAAAAAAAAATATATATATATATA TATATA	KYAT1	ENSG00000171097.14	transcript	ENST00000302586.8	protein_coding	1/12			chr9	TogoVar
KYNU_chr2_142872664_143060833	142977372	G G	GATATATA others(27): Show GATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01993.hp2 HG02280.hp2 others(1): Show HG00609.hp1 HG01993.hp2 HG02280.hp2 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0014 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0014 a0001c0001t0126	a0001c0001t0001g0066 a0001c0001t0006g0123 a0001c0001t0014g0045 others(1): Show a0001c0001t0001g0066 a0001c0001t0006g0123 a0001c0001t0014g0045 a0001c0001t0126g0171	4	163	0.0245	34	c.730 others(51): Show c.730-7698_730-7697insATATATATATATATATATATATATATAT ATATAT	KYNU	ENSG00000115919.15	transcript	ENST00000264170.9	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
L2HGDH_chr14_50237434_50317229	50316972	A A	ATATCCAG others(27): Show ATATCCAGAATCTGCAATGAACTTGAAGCAATTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0011 a0002c0002t0011	a0002c0002t0011g0234 a0002c0002t0011g0234	1	358	0.0028	34	c.-48 others(45): Show c.-4856_-4823dupCAAATTGCTTCAAGTTCATTGCAGATTCTGGATA	L2HGDH	ENSG00000087299.12	transcript	ENST00000267436.9	protein_coding		4744		chr14	TogoVar
L3MBTL4_chr18_5949717_6419911	6099585	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01978.hp2 HG02258.hp1 others(3): Show HG00558.hp1 HG01978.hp2 HG02258.hp1 HG02280.hp2 HG03130.hp2 NA19009.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0002c0002t0001	a0001c0001t0002g0044 a0001c0001t0003g0024 a0001c0001t0004g0055 others(3): Show a0001c0001t0002g0044 a0001c0001t0003g0024 a0001c0001t0004g0055 a0001c0001t0007g0077 a0002c0002t0001g0050 a0002c0002t0001g0071	6	7	0.8571	34	c.120 others(53): Show c.1200-6058_1200-6057insATATATATATATATATATATATATAT ATATATAT	L3MBTL4	ENSG00000154655.16	transcript	ENST00000317931.12	protein_coding	14/18			chr18	TogoVar
LAMA2_chr6_128878138_129521566	129200270	A A	ATGTGTGT others(27): Show ATGTGTGTATATATATACGTGTACACATATACATG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01074.hp1 HG02055.hp1 others(8): Show HG00140.hp1 HG01074.hp1 HG02055.hp1 HG02572.hp2 HG02818.hp2 HG02922.hp1 HG02970.hp2 HG03041.hp1 HG03130.hp1 HG03710.hp2 NA20129.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0006 a0008 a0029	a0001c0012 a0002c0004 a0002c0035 others(6): Show a0001c0012 a0002c0004 a0002c0035 a0003c0044 a0004c0027 a0004c0030 a0006c0047 a0008c0005 a0029c0019	a0001c0012t0001 a0002c0004t0001 a0002c0004t0007 others(7): Show a0001c0012t0001 a0002c0004t0001 a0002c0004t0007 a0002c0035t0006 a0003c0044t0003 a0004c0027t0001 a0004c0030t0002 a0006c0047t0006 a0008c0005t0003 a0029c0019t0002	a0001c0012t0001g0068 a0002c0004t0001g0033 a0002c0004t0007g0024 others(8): Show a0001c0012t0001g0068 a0002c0004t0001g0033 a0002c0004t0007g0024 a0002c0035t0006g0028 a0003c0044t0003g0020 a0004c0027t0001g0002 a0004c0030t0002g0040 a0006c0047t0006g0026 a0008c0005t0003g0034 a0008c0005t0003g0035 a0029c0019t0002g0012	11	82	0.1341	34	c.178 others(53): Show c.1782+7422_1782+7423insGTATATATATACGTGTACACATATAC ATGTGTGT	LAMA2	ENSG00000196569.14	transcript	ENST00000421865.3	protein_coding	12/64		INFO_REALIGN_3_PRIME	chr6	TogoVar
LAMA2_chr6_128878138_129521566	129200274	G G	GTGTATAT others(27): Show GTGTATATATATACGTGTACACATATACATGTGTA	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02922.hp2 HG02897.hp2 HG02922.hp2	a0002 a0004 a0002 a0004	a0002c0026 a0004c0059 a0002c0026 a0004c0059	a0002c0026t0002 a0004c0059t0002 a0002c0026t0002 a0004c0059t0002	a0002c0026t0002g0018 a0004c0059t0002g0079 a0002c0026t0002g0018 a0004c0059t0002g0079	2	57	0.0351	34	c.178 others(53): Show c.1782+7422_1782+7423insGTATATATATACGTGTACACATATAC ATGTGTAT	LAMA2	ENSG00000196569.14	transcript	ENST00000421865.3	protein_coding	12/64		INFO_REALIGN_3_PRIME	chr6	TogoVar
LAMA2_chr6_128878138_129521566	129205478	G G	GTATATAT others(27): Show GTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02809.hp1 NA18946.hp1 others(1): Show HG01192.hp1 HG02809.hp1 NA18946.hp1 NA19060.hp1	a0001 a0002 a0015 others(1): Show a0001 a0002 a0015 a0024	a0001c0068 a0002c0056 a0015c0065 others(1): Show a0001c0068 a0002c0056 a0015c0065 a0024c0014	a0001c0068t0003 a0002c0056t0003 a0015c0065t0004 others(1): Show a0001c0068t0003 a0002c0056t0003 a0015c0065t0004 a0024c0014t0005	a0001c0068t0003g0067 a0002c0056t0003g0078 a0015c0065t0004g0069 others(1): Show a0001c0068t0003g0067 a0002c0056t0003g0078 a0015c0065t0004g0069 a0024c0014t0005g0063	4	56	0.0714	34	c.178 others(55): Show c.1782+12641_1782+12642insTATATATATATATATATATATATA TATATATATA	LAMA2	ENSG00000196569.14	transcript	ENST00000421865.3	protein_coding	12/64		INFO_REALIGN_3_PRIME	chr6	TogoVar
LAMA3_chr18_23684453_23960066	23687746	T T	TTGTGTGT others(27): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01891.hp2 others(4): Show HG01167.hp2 HG01169.hp2 HG01891.hp2 HG02040.hp2 HG02602.hp1 HG02965.hp2 HG03831.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0027 a0003c0004 others(1): Show a0001c0001 a0001c0027 a0003c0004 a0003c0014	a0001c0001t0002 a0001c0027t0001 a0003c0004t0001 others(1): Show a0001c0001t0002 a0001c0027t0001 a0003c0004t0001 a0003c0014t0002	a0001c0001t0002g0276 a0001c0027t0001g0159 a0003c0004t0001g0249 others(4): Show a0001c0001t0002g0276 a0001c0027t0001g0159 a0003c0004t0001g0249 a0003c0004t0001g0265 a0003c0004t0001g0275 a0003c0014t0002g0241 a0003c0014t0002g0244	7	133	0.0526	34	c.-19 others(45): Show c.-1938_-1937insTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	LAMA3	ENSG00000053747.17	transcript	ENST00000313654.14	protein_coding		1706		chr18	TogoVar
LAMA4_chr6_112102931_112259567	112241104	T T	TATATATA others(27): Show TATATATATATGAATATATATATGAATATATAGGA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03195.hp1 NA20129.hp2 HG02970.hp1 HG03195.hp1 NA20129.hp2	a0001 a0009 a0001 a0009	a0001c0037 a0009c0017 a0001c0037 a0009c0017	a0001c0037t0003 a0009c0017t0002 a0001c0037t0003 a0009c0017t0002	a0001c0037t0003g0003 a0009c0017t0002g0307 a0009c0017t0002g0308 a0001c0037t0003g0003 a0009c0017t0002g0307 a0009c0017t0002g0308	3	312	0.0096	34	c.195 others(53): Show c.195+12818_195+12851dupTCCTATATATTCATATATATATTCAT ATATATAT	LAMA4	ENSG00000112769.20	transcript	ENST00000230538.12	protein_coding	2/38			chr6	TogoVar
LAMA4_chr6_112102931_112259567	112250834	G G	GTGTTTCT others(27): Show GTGTTTCTTTTGTTTCATTTTTTTTTCTATTTTTT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0003 a0003	a0003c0013 a0003c0013	a0003c0013t0001 a0003c0013t0001	a0003c0013t0001g0216 a0003c0013t0001g0216	1	312	0.0032	34	c.195 others(51): Show c.195+3121_195+3122insAAAAAATAGAAAAAAAAATGAAACAAAA GAAACA	LAMA4	ENSG00000112769.20	transcript	ENST00000230538.12	protein_coding	2/38			chr6	TogoVar
LAMA5_chr20_62304065_62372312	62321452	T T	TGGGGCCA others(27): Show TGGGGCCAGTGGAGGGGCGGGGCCAGTGGGGAGGC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0102 a0102	a0102c0045 a0102c0045	a0102c0045t0001 a0102c0045t0001	a0102c0045t0001g0022 a0102c0045t0001g0022	1	148	0.0068	34	c.649 others(51): Show c.6497-563_6497-562insGCCTCCCCACTGGCCCCGCCCCTCCACT GGCCCC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	48/79			chr20	TogoVar
LAMC1_chr1_183018420_183150592	183077776	G G	GTGTGTGT others(27): Show GTGTGTGTGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00733.hp1 HG00738.hp2 others(5): Show HG00140.hp1 HG00733.hp1 HG00738.hp2 HG01358.hp2 HG02129.hp1 HG03139.hp2 NA19054.hp1 NA19060.hp2	a0001 a0007 a0001 a0007	a0001c0002 a0001c0005 a0007c0014 a0001c0002 a0001c0005 a0007c0014	a0001c0002t0002 a0001c0005t0002 a0007c0014t0022 a0001c0002t0002 a0001c0005t0002 a0007c0014t0022	a0001c0002t0002g0011 a0001c0002t0002g0012 a0001c0002t0002g0029 others(5): Show a0001c0002t0002g0011 a0001c0002t0002g0012 a0001c0002t0002g0029 a0001c0002t0002g0037 a0001c0002t0002g0043 a0001c0002t0002g0044 a0001c0005t0002g0087 a0007c0014t0022g0038	8	136	0.0588	34	c.419 others(53): Show c.419-25551_419-25550insGTGTGTGTATATATATATATATATAT ATATATAT	LAMC1	ENSG00000135862.6	transcript	ENST00000258341.5	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr1	TogoVar

Search by Variant

Search

Search Results