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	distance	status	chr	external
GZMM_chr19_539053_554922	540196	C C	CCCCCGGG others(32): Show CCCCCGGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	398	0.0025	39	c.-38 others(50): Show c.-3876_-3875insCCCCGGGTTTAGAATCCGGAGGCCGGGGTGGCCA GGCCT		GZMM	ENSG00000197540.8	transcript	ENST00000264553.6	protein_coding					3856		chr19	TogoVar
GZMM_chr19_539053_554922	540275	C C	CGGGTTTA others(32): Show CGGGTTTAGAATCCGGAGGCCGGGATGGCCAGGCCCCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0053 a0003c0004t0001g0053	1	398	0.0025	39	c.-37 others(50): Show c.-3797_-3796insGGGTTTAGAATCCGGAGGCCGGGATGGCCAGGCC CCCCG		GZMM	ENSG00000197540.8	transcript	ENST00000264553.6	protein_coding					3777		chr19	TogoVar
H1-0_chr22_37800229_37812432	37811157	G G	GGAGTTCA others(32): Show GGAGTTCAGACCAGGCCTGGCCAACATGGGTGAAACCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	360	0.0028	39	c.50 others(50): Show c.5028_*5029insGAGTTCAGACCAGGCCTGGCCAACATGGGTGAAA CCCCA		H1-0	ENSG00000189060.6	transcript	ENST00000340857.4	protein_coding					3726		chr22	TogoVar
H1-8_chr3_129538175_129556467	129538525	C C	CCCTTCCT others(32): Show CCCTTCCTTCCTTCTTCCTTCCTTCCTTCCTTCCTTCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG03516.hp2 HG02622.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0083 a0001c0001t0001g0019 a0001c0001t0001g0083	2	422	0.0047	39	c.-46 others(50): Show c.-4694_-4693insCCTTCCTTCCTTCTTCCTTCCTTCCTTCCTTCCT TCCTT		H1-8	ENSG00000178804.8	transcript	ENST00000324382.7	protein_coding					4649		chr3	TogoVar
HBM_chr16_160978_171764	164706	G G	GGCGGGGC others(32): Show GGCGGGGCGGGGCGCGGTGCGGGCGGGGCGGGGCGGGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	370	0.0027	39	c.-12 others(50): Show c.-1292_-1291insGCGGGGCGGGGCGCGGTGCGGGCGGGGCGGGGCG GGGCC		HBM	ENSG00000206177.7	transcript	ENST00000356815.4	protein_coding					1271		chr16	TogoVar
HBM_chr16_160978_171764	164711	G G	GGCGGGGC others(32): Show GGCGGGGCGCGGTGCGGGCGGGGCGGGGCGGGGCCGCGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02148.hp2 HG02280.hp1 HG02293.hp1 others(5): Show HG02148.hp2 HG02280.hp1 HG02293.hp1 HG02630.hp2 HG03491.hp2 HG03492.hp1 NA18989.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0001 a0001c0001t0001g0003	8	370	0.0216	39	c.-12 others(50): Show c.-1287_-1286insGCGGGGCGCGGTGCGGGCGGGGCGGGGCGGGGCC GCGGT		HBM	ENSG00000206177.7	transcript	ENST00000356815.4	protein_coding					1266		chr16	TogoVar
HBM_chr16_160978_171764	164943	C C	CGGGGCGG others(32): Show CGGGGCGGGGCGGGGCGGGGTCGCGGGGCGGGGTCGCGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0001 a0001c0007t0001g0001	1	370	0.0027	39	c.-10 others(50): Show c.-1055_-1054insGGGGCGGGGCGGGGCGGGGTCGCGGGGCGGGGTC GCGGG		HBM	ENSG00000206177.7	transcript	ENST00000356815.4	protein_coding					1034		chr16	TogoVar
HCLS1_chr3_121626399_121665903	121633539	T T	TTTTATTT others(32): Show TTTTATTTTATGCATTTTTTGAGACAGGGTCTTCTTTTTA	intron_variant intron_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0010 a0010	a0010c0022 a0010c0022	a0010c0022t0003 a0010c0022t0003	a0010c0022t0003g0126 a0010c0022t0003g0126	1	390	0.0026	39	c.904 others(54): Show c.904-369_904-368insTAAAAAGAAGACCCTGTCTCAAAAAATGCA TAAAATAAA		HCLS1	ENSG00000180353.11	transcript	ENST00000314583.8	protein_coding	10/13						chr3	TogoVar
HCN2_chr19_584881_622159	590007	G G	GGCCGCCG others(32): Show GGCCGCCGCCGCCGCCGCCGCCCGCGCCCCCCCAACAGCA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01081.hp2 HG01081.hp2	a0017 a0017	a0017c0049 a0017c0049	a0017c0049t0001 a0017c0049t0001	a0017c0049t0001g0311 a0017c0049t0001g0311	1	408	0.0025	39	c.95_ others(45): Show c.95_133dupAACAGCAGCCGCCGCCGCCGCCGCCGCCCGCGCCCCCCC	p.Gln others(11): Show p.Gln32_Pro44dup	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	1/8	199/3420	134/2670	45/889		INFO_REALIGN_3_PRIME	chr19	TogoVar
HCN4_chr15_73314859_73373958	73341069	G G	GGGTGTGT others(32): Show GGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0243 a0001c0001t0003g0243	1	344	0.0029	39	c.120 others(58): Show c.1209+2315_1209+2316insACACACACACACACACACACACACAC ACACACACACACC		HCN4	ENSG00000138622.4	transcript	ENST00000261917.4	protein_coding	2/7						chr15	TogoVar
HDAC9_chr7_18490749_19007416	18824044	G G	GGAAGAGG others(32): Show GGAAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0082 a0001c0002t0003g0082	1	156	0.0064	39	c.232 others(58): Show c.2323-5112_2323-5111insGGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGA		HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	17/25					INFO_REALIGN_3_PRIME	chr7	TogoVar
HDDC2_chr6_125270350_125306967	125301482	G G	GCACACAC others(32): Show GCACACACACACACACACGTCGTGAGCGCGCGCGCGCACA	intron_variant intron_variant	MODIFIER	HG02083.hp2 NA18965.hp2 NA18990.hp2 others(1): Show HG02083.hp2 NA18965.hp2 NA18990.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0024 a0001c0001t0005g0061 a0001c0001t0005g0024 a0001c0001t0005g0061	4	374	0.0107	39	c.84+ others(52): Show c.84+366_84+367insTGTGCGCGCGCGCGCTCACGACGTGTGTGTGT GTGTGTG		HDDC2	ENSG00000111906.18	transcript	ENST00000398153.7	protein_coding	1/5						chr6	TogoVar
HEATR5B_chr2_36975895_37089372	36984215	A A	AAAAAAAA others(32): Show AAAAAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0225 a0001c0002t0001g0225	1	314	0.0032	39	c.591 others(58): Show c.5912-2422_5912-2421insATATATATATATATATATATATATAT ATATATTTTTTTT		HEATR5B	ENSG00000008869.12	transcript	ENST00000233099.6	protein_coding	35/35						chr2	TogoVar
HECTD1_chr14_31095117_31212793	31096676	C C	CATTATAT others(32): Show CATTATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG03195.hp1 HG02615.hp1 HG03195.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0313 a0001c0002t0001g0319 a0001c0002t0001g0313 a0001c0002t0001g0319	2	342	0.0059	39	c.42 others(50): Show c.4253_*4254insATATATATATATATATATATATATATATATATAT ATAAT		HECTD1	ENSG00000092148.14	transcript	ENST00000399332.6	protein_coding					3440		chr14	TogoVar
HECTD4_chr12_112155195_112387431	112323969	C C	CTTTCTTT others(32): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0084 a0001c0003t0002g0084	1	270	0.0037	39	c.178 others(56): Show c.178-4228_178-4227insAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAA		HECTD4	ENSG00000173064.14	transcript	ENST00000682272.1	protein_coding	1/75						chr12	TogoVar
HERC1_chr15_63603618_63838948	63720103	C C	CTTTTTTT others(32): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0018 a0002c0018	a0002c0018t0002 a0002c0018t0002	a0002c0018t0002g0068 a0002c0018t0002g0068	1	216	0.0046	39	c.374 others(58): Show c.3743-1207_3743-1206insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAA		HERC1	ENSG00000103657.14	transcript	ENST00000443617.7	protein_coding	19/77						chr15	TogoVar
HERC4_chr10_67916905_68080283	68059488	T T	TTATAATA others(32): Show TTATAATATTATATATAACATTATATATTATAATATTATA	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0137 a0001c0001t0012g0137	1	360	0.0028	39	c.226 others(58): Show c.226+13394_226+13395insTATAATATTATAATATATAATGTTAT ATATAATATTATA		HERC4	ENSG00000148634.16	transcript	ENST00000373700.9	protein_coding	3/24						chr10	TogoVar
HERC4_chr10_67916905_68080283	68059888	C C	CATAATAA others(32): Show CATAATAATATTATATATTATAATAATATTATATATCATA	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0300 a0001c0001t0001g0300	1	360	0.0028	39	c.226 others(58): Show c.226+12994_226+12995insTATGATATATAATATTATTATAATAT ATAATATTATTAT		HERC4	ENSG00000148634.16	transcript	ENST00000373700.9	protein_coding	3/24						chr10	TogoVar
HEY1_chr8_79759010_79772767	79769371	A A	ATCTTTTT others(32): Show ATCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG01169.hp2 HG02055.hp1 others(5): Show HG00642.hp2 HG01169.hp2 HG02055.hp1 HG02602.hp1 HG02683.hp2 HG02897.hp2 HG03927.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0022 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0022	8	460	0.0174	39	c.-17 others(50): Show c.-1709_-1708insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAGA		HEY1	ENSG00000164683.19	transcript	ENST00000354724.8	protein_coding					1605		chr8	TogoVar
HGSNAT_chr8_43135464_43207855	43181094	A A	AGAGGGAG others(32): Show AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGGGGAGGGG	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	234	0.0043	39	c.101 others(58): Show c.1013-1020_1013-1019insGGGAGGGGGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAG		HGSNAT	ENSG00000165102.15	transcript	ENST00000379644.9	protein_coding	10/17					INFO_REALIGN_3_PRIME	chr8	TogoVar
HGSNAT_chr8_43135464_43207855	43181163	G G	GGGAGAGG others(32): Show GGGAGAGGGAGAGGAGAGGGAGAGGGAGAGGAGAGGGAGA	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	234	0.0043	39	c.101 others(56): Show c.1013-969_1013-968insAGAGGGAGAGGGAGAGGAGAGGGAGAGG AGAGGGAGAGG		HGSNAT	ENSG00000165102.15	transcript	ENST00000379644.9	protein_coding	10/17					INFO_REALIGN_3_PRIME	chr8	TogoVar
HHLA1_chr8_132056480_132116157	132114763	C C	CCCTACAG others(32): Show CCCTACAGCCACTGATACCTCCCAAACTAGGTACACAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0099 a0001c0001t0003g0099	1	380	0.0026	39	c.-36 others(50): Show c.-3684_-3683insTTTTGTGTACCTAGTTTGGGAGGTATCAGTGGCT GTAGG		HHLA1	ENSG00000132297.13	transcript	ENST00000414222.2	protein_coding					3607		chr8	TogoVar
HIF1A_chr14_61690513_61753258	61749595	A A	ATCCTAGA others(32): Show ATCCTAGAATAGTTGTTCTCTCCTTAATATTCCTCTCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp2 NA19240.hp1 HG03471.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0007 a0001c0001t0001 a0001c0006t0007	a0001c0001t0001g0275 a0001c0006t0007g0060 a0001c0001t0001g0275 a0001c0006t0007g0060	2	322	0.0062	39	c.25 others(50): Show c.2510_*2511insTCCTAGAATAGTTGTTCTCTCCTTAATATTCCTC TCCCC		HIF1A	ENSG00000100644.17	transcript	ENST00000337138.9	protein_coding					1338		chr14	TogoVar
HIKESHI_chr11_86297240_86350943	86318303	C C	CAAAAAAA others(32): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp2 HG01168.hp1 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	2	398	0.0050	39	c.268 others(58): Show c.268+11841_268+11842insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAA		HIKESHI	ENSG00000149196.17	transcript	ENST00000278483.8	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr11	TogoVar
HINFP_chr11_119116580_119141059	119129490	C C	CTTTTTTT others(32): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02738.hp2 HG03710.hp2 others(1): Show HG01496.hp2 HG02738.hp2 HG03710.hp2 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0192 a0001c0001t0003g0197 a0001c0001t0003g0202 others(1): Show a0001c0001t0003g0192 a0001c0001t0003g0197 a0001c0001t0003g0202 a0001c0001t0003g0205	4	404	0.0099	39	c.182 others(56): Show c.182-1220_182-1219insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT		HINFP	ENSG00000172273.13	transcript	ENST00000350777.7	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr11	TogoVar
HIPK3_chr11_33252381_33362023	33345784	A A	ACGCAGCA others(32): Show ACGCAGCAGCAAGACCCCCAGCCCCAGCCAGAACAGCAGG	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0095 a0001c0001t0003g0095	1	342	0.0029	39	c.189 others(58): Show c.1898-1508_1898-1507insGCAGCAGCAAGACCCCCAGCCCCAGC CAGAACAGCAGGC		HIPK3	ENSG00000110422.12	transcript	ENST00000303296.9	protein_coding	8/16					INFO_REALIGN_3_PRIME	chr11	TogoVar
HIPK4_chr19_40374271_40395181	40377360	T T	TGGAGGAG others(32): Show TGGAGGAGGTACAGGGCAGAGGGGGTCAGGGGCTGGGATG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	382	0.0026	39	c.22 others(50): Show c.2226_*2227insCATCCCAGCCCCTGACCCCCTCTGCCCTGTACCT CCTCC		HIPK4	ENSG00000160396.9	transcript	ENST00000291823.3	protein_coding					1910		chr19	TogoVar
HLA-F_chr6_29718434_29732296	29722758	G G	GAGAAGAA others(32): Show GAGAAGAAGAGGAAGAGGAAGAAGAAGAAGAAGAAGAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	443	0.0023	39	c.-70 others(48): Show c.-706_-705insAGAAGAAGAGGAAGAGGAAGAAGAAGAAGAAGAAGA AGA		HLA-F	ENSG00000204642.14	transcript	ENST00000259951.12	protein_coding					675		chr6	TogoVar
HLA-F_chr6_29718434_29732296	29722768	G G	GGAAGAAG others(32): Show GGAAGAAGAAGAAGAAAAAGAAGAAGAAGAAGAAGAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	443	0.0023	39	c.-69 others(48): Show c.-696_-695insGAAGAAGAAGAAGAAAAAGAAGAAGAAGAAGAAGAA GAA		HLA-F	ENSG00000204642.14	transcript	ENST00000259951.12	protein_coding					665		chr6	TogoVar
HLA-F_chr6_29718434_29732296	29722807	A A	AGAAGAAG others(32): Show AGAAGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	443	0.0023	39	c.-65 others(48): Show c.-657_-656insGAAGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAA GAG		HLA-F	ENSG00000204642.14	transcript	ENST00000259951.12	protein_coding					626		chr6	TogoVar
HLCS_chr21_36743626_36971669	36868274	G G	GAAAGAAA others(32): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0156 a0002c0002t0003g0156	1	258	0.0039	39	c.189 others(60): Show c.1892+28585_1892+28586insTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTT		HLCS	ENSG00000159267.17	transcript	ENST00000674895.3	protein_coding	6/10						chr21	TogoVar
HMCN2_chr9_130260760_130439123	130277772	C C	CCATCATC others(32): Show CCATCATCACCACCACCATCATCATCACCACCACCACCAT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03195.hp1 HG02970.hp2 HG03195.hp1	a0039 a0056 a0039 a0056	a0039c0112 a0056c0106 a0039c0112 a0056c0106	a0039c0112t0001 a0056c0106t0001 a0039c0112t0001 a0056c0106t0001	a0039c0112t0001g0070 a0056c0106t0001g0069 a0039c0112t0001g0070 a0056c0106t0001g0069	2	258	0.0078	39	c.260 others(56): Show c.260-6823_260-6822insCCACCACCATCATCATCACCACCACCAC CATCATCATCA		HMCN2	ENSG00000148357.18	transcript	ENST00000683500.2	protein_coding	1/97					INFO_REALIGN_3_PRIME	chr9	TogoVar
HMCN2_chr9_130260760_130439123	130312539	C C	CCCTCCCT others(32): Show CCCTCCCTCCCTCCCTCCTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0009 a0009	a0009c0208 a0009c0208	a0009c0208t0002 a0009c0208t0002	a0009c0208t0002g0160 a0009c0208t0002g0160	1	258	0.0039	39	c.235 others(58): Show c.2350+2479_2350+2480insCTCCCTCCCTCCCTCCTTCTTTCTTT CTTTCTTTCTTTC		HMCN2	ENSG00000148357.18	transcript	ENST00000683500.2	protein_coding	15/97					INFO_REALIGN_3_PRIME	chr9	TogoVar
HMGCLL1_chr6_55429373_55584192	55477309	T T	TTATATAA others(32): Show TTATATAATATATAATATATATTATATATTATATAATATA	intron_variant intron_variant	MODIFIER	HG00408.hp1 NA18954.hp1 NA19084.hp2 HG00408.hp1 NA18954.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0279 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0279 a0001c0001t0001g0320 a0001c0001t0001g0321	3	334	0.0090	39	c.795 others(58): Show c.795+18109_795+18110insTATATTATATAATATATAATATATAT TATATATTATATA		HMGCLL1	ENSG00000146151.14	transcript	ENST00000274901.9	protein_coding	7/8						chr6	TogoVar
HMGCR_chr5_75332220_75367101	75358838	G G	GGATGGAT others(32): Show GGATGGATAATTTATCTTTTTTATTTTGTAATCTTTAATT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	390	0.0026	39	c.215 others(54): Show c.2157+13_2157+51dupATGGATAATTTATCTTTTTTATTTTGTAAT CTTTAATTG		HMGCR	ENSG00000113161.17	transcript	ENST00000287936.9	protein_coding	16/19					INFO_REALIGN_3_PRIME	chr5	TogoVar
HMGN1_chr21_39337315_39354088	39337386	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0038 a0001c0001t0006g0038	1	414	0.0024	39	c.57 others(50): Show c.5725_*5726insATATATATATATATATATATATATATATATATAT ATATA		HMGN1	ENSG00000205581.11	transcript	ENST00000380749.10	protein_coding					4928		chr21	TogoVar
HMMR_chr5_163455632_163496941	163494876	C C	CTTTTTTT others(32): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0167 a0003c0003t0001g0167	1	406	0.0025	39	c.37 others(50): Show c.3712_*3713insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT		HMMR	ENSG00000072571.20	transcript	ENST00000393915.9	protein_coding					2936		chr5	TogoVar
HMSD_chr18_63944301_63966835	63963079	T T	TTCTTTCT others(32): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0061 a0001c0001t0009g0061	1	404	0.0025	39	c.27 others(50): Show c.2724_*2725insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTT CTTTC		HMSD	ENSG00000221887.6	transcript	ENST00000408945.5	protein_coding					1245		chr18	TogoVar
HOMER2_chr15_82843983_82957720	82868541	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	348	0.0029	39	c.295 others(56): Show c.295-4283_295-4282insAAAAAAAAAAAAAAATATATATATATAT ATATATATATA		HOMER2	ENSG00000103942.13	transcript	ENST00000450735.7	protein_coding	3/8						chr15	TogoVar
HOXA11_chr7_27176157_27190232	27188943	A A	AAAAAAAA others(32): Show AAAAAAAAAAATAAAAAAAAAAAAAAAAAGCAGACTAGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0004 a0001c0001t0003g0004	1	432	0.0023	39	c.-38 others(50): Show c.-3800_-3799insGACTAGTCTGCTTTTTTTTTTTTTTTTTATTTTT TTTTT		HOXA11	ENSG00000005073.6	transcript	ENST00000006015.4	protein_coding					3712		chr7	TogoVar
HOXC8_chr12_54003985_54017769	54014000	T T	TTCTCTTC others(32): Show TTCTCTTCTCTTCTCTTCTCTCTCTCTCTCTCTCTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0001 a0001c0001t0027g0001	1	306	0.0033	39	c.26 others(50): Show c.2619_*2620insTCTCTTCTCTTCTCTTCTCTCTCTCTCTCTCTCT CTCTC		HOXC8	ENSG00000037965.6	transcript	ENST00000040584.6	protein_coding					1232		chr12	TogoVar
HOXC8_chr12_54003985_54017769	54014000	T T	TTCTCTTC others(32): Show TTCTCTTCTCTTCTCTTCTCTTCTCTTCTTTCTCTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	1	306	0.0033	39	c.26 others(50): Show c.2619_*2620insTCTCTTCTCTTCTCTTCTCTTCTCTTCTTTCTCT CTCTC		HOXC8	ENSG00000037965.6	transcript	ENST00000040584.6	protein_coding					1232		chr12	TogoVar
HPCAL1_chr2_10297904_10432604	10399214	C C	CCACCACC others(32): Show CCACCACCACCACCACCATCACCACCACCACCACCACCAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0150 a0001c0001t0012g0150	1	314	0.0032	39	c.-25 others(56): Show c.-25+2311_-25+2312insTCACCACCACCACCACCACCATCACCAC CACCACCACCA		HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr2	TogoVar
HPCAL1_chr2_10297904_10432604	10399283	C C	CCATCACC others(32): Show CCATCACCACCATCACCACCACCACCACCACCACCACCAT	intron_variant intron_variant	MODIFIER	HG00609.hp2 NA18951.hp2 HG00609.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0056 a0001c0001t0002g0104 a0001c0001t0002g0056 a0001c0001t0002g0104	2	314	0.0064	39	c.-25 others(56): Show c.-25+2365_-25+2366insTCACCACCATCACCACCACCACCACCAC CACCACCATCA		HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr2	TogoVar
HRCT1_chr9_35901202_35912136	35906589	A A	ACCACCAC others(32): Show ACCACCACCACCACCACCACCACCACACCCCTCACCACCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02486.hp2 HG02486.hp2	a0057 a0057	a0057c0054 a0057c0054	a0057c0054t0001 a0057c0054t0001	a0057c0054t0001g0000 a0057c0054t0001g0000	1	430	0.0023	39	c.316 others(46): Show c.316_317insACCACCACCACACCCCTCACCACCTCCACCACCACCAC C	p.His others(52): Show p.His105_Pro106insHisHisHisHisThrProHisHisLeuHisHi sHisHis	HRCT1	ENSG00000196196.3	transcript	ENST00000354323.3	protein_coding	1/1	403/935	317/348	106/115		INFO_REALIGN_3_PRIME	chr9	TogoVar
HRCT1_chr9_35901202_35912136	35906589	A A	ACCACCAC others(32): Show ACCACCACCACCACCACCCCCGCCACACCCCTCACCACCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00408.hp1 HG01496.hp2 HG02015.hp1 others(24): Show HG00408.hp1 HG01496.hp2 HG02015.hp1 HG02027.hp2 HG02074.hp2 HG02080.hp2 HG02155.hp2 HG02280.hp2 HG02293.hp1 HG02647.hp1 HG03486.hp1 NA18943.hp1 NA18944.hp2 NA18948.hp1 NA18955.hp2 NA18964.hp1 NA18966.hp1 NA18977.hp1 NA18979.hp2 NA18984.hp2 NA18995.hp1 NA19009.hp1 NA19058.hp2 NA19068.hp2 NA19070.hp1 NA19081.hp2 NA19086.hp1	a0007 a0010 a0022 others(3): Show a0007 a0010 a0022 a0028 a0033 a0086	a0007c0007 a0010c0010 a0022c0022 others(3): Show a0007c0007 a0010c0010 a0022c0022 a0028c0027 a0033c0032 a0086c0090	a0007c0007t0001 a0010c0010t0001 a0022c0022t0001 others(3): Show a0007c0007t0001 a0010c0010t0001 a0022c0022t0001 a0028c0027t0001 a0033c0032t0001 a0086c0090t0001	a0007c0007t0001g0000 a0010c0010t0001g0000 a0022c0022t0001g0000 others(3): Show a0007c0007t0001g0000 a0010c0010t0001g0000 a0022c0022t0001g0000 a0028c0027t0001g0000 a0033c0032t0001g0000 a0086c0090t0001g0000	27	430	0.0628	39	c.316 others(46): Show c.316_317insACCCCCGCCACACCCCTCACCACCTCCACCACCACCAC C	p.His others(52): Show p.His105_Pro106insHisProArgHisThrProHisHisLeuHisHi sHisHis	HRCT1	ENSG00000196196.3	transcript	ENST00000354323.3	protein_coding	1/1	403/935	317/348	106/115		INFO_REALIGN_3_PRIME	chr9	TogoVar
HRCT1_chr9_35901202_35912136	35906589	A A	ACCACCAC others(32): Show ACCACCACCACCACCCCCACCGCCACACCCCTCACCACCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA18992.hp1 NA18992.hp1	a0070 a0070	a0070c0067 a0070c0067	a0070c0067t0001 a0070c0067t0001	a0070c0067t0001g0000 a0070c0067t0001g0000	1	430	0.0023	39	c.327 others(46): Show c.327_328insACCCCTCACCACCTCCACCACCACCACCCCCACCGCCA C	p.His others(52): Show p.His109_His110insThrProHisHisLeuHisHisHisHisProHi sArgHis	HRCT1	ENSG00000196196.3	transcript	ENST00000354323.3	protein_coding	1/1	414/935	328/348	110/115		INFO_REALIGN_3_PRIME	chr9	TogoVar
HRCT1_chr9_35901202_35912136	35906589	A A	ACCACCAC others(32): Show ACCACCACCACCCCCACCCCCGCCACACCCCTCACCACCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02071.hp2 HG02071.hp2	a0072 a0072	a0072c0075 a0072c0075	a0072c0075t0001 a0072c0075t0001	a0072c0075t0001g0000 a0072c0075t0001g0000	1	430	0.0023	39	c.313 others(46): Show c.313_314insCCCACCCCCGCCACACCCCTCACCACCTCCACCACCAC C	p.His others(52): Show p.His104_His105insProHisProArgHisThrProHisHisLeuHi sHisHis	HRCT1	ENSG00000196196.3	transcript	ENST00000354323.3	protein_coding	1/1	400/935	314/348	105/115		INFO_REALIGN_3_PRIME	chr9	TogoVar
HRCT1_chr9_35901202_35912136	35906598	A A	ACCACCAC others(32): Show ACCACCACCCCCGCCACACCCCTCACCACCTCCACCACCC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18956.hp2 NA18966.hp2 NA18980.hp2 others(1): Show NA18956.hp2 NA18966.hp2 NA18980.hp2 NA18982.hp2	a0019 a0019	a0019c0019 a0019c0019	a0019c0019t0001 a0019c0019t0001	a0019c0019t0001g0000 a0019c0019t0001g0000	4	430	0.0093	39	c.316 others(46): Show c.316_317insACCCCCGCCACACCCCTCACCACCTCCACCACCCCCAC C	p.His others(52): Show p.His105_Pro106insHisProArgHisThrProHisHisLeuHisHi sProHis	HRCT1	ENSG00000196196.3	transcript	ENST00000354323.3	protein_coding	1/1	403/935	317/348	106/115		INFO_REALIGN_3_PRIME	chr9	TogoVar
HRH3_chr20_62209960_62225278	62213030	G G	GGGGGTAA others(32): Show GGGGGTAAGGAGAGCGGGGATGGGGGAGGGAGAGTGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	368	0.0027	39	c.29 others(50): Show c.2975_*2976insTCCCCACTCTCCCTCCCCCATCCCCGCTCTCCTT ACCCC		HRH3	ENSG00000101180.17	transcript	ENST00000340177.10	protein_coding					1929		chr20	TogoVar

Search by Variant

Search

Search Results (Total: 3425 hits)