Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
RBM47_chr4_40418280_40634864	40498054	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01361.hp2 NA19011.hp1 others(1): Show HG00140.hp1 HG01361.hp2 NA19011.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0062 a0001c0001t0097 others(1): Show a0001c0001t0001 a0001c0001t0062 a0001c0001t0097 a0001c0001t0098	a0001c0001t0001g0120 a0001c0001t0062g0014 a0001c0001t0097g0103 others(1): Show a0001c0001t0001g0120 a0001c0001t0062g0014 a0001c0001t0097g0103 a0001c0001t0098g0202	4	278	0.0144	34	c.-15 others(55): Show c.-154-31356_-154-31355insTATATATATATATATATATATATA TATATATATA	RBM47	ENSG00000163694.15	transcript	ENST00000295971.12	protein_coding	2/6			chr4	TogoVar
RBMS1_chr2_160267151_160498807	160311228	C C	CTATATAT others(27): Show CTATATATCTATATATCTATATATCTATATATCTA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0085 a0001c0002t0016g0085	1	328	0.0031	34	c.402 others(51): Show c.402+1927_402+1928insTAGATATATAGATATATAGATATATAGA TATATA	RBMS1	ENSG00000153250.21	transcript	ENST00000348849.8	protein_coding	4/13			chr2	TogoVar
RBMS1_chr2_160267151_160498807	160471691	G G	GTGTGTAT others(27): Show GTGTGTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0091 a0001c0001t0002g0091	1	328	0.0031	34	c.75+ others(51): Show c.75+21597_75+21598insTATATATATATATATATATATATATATA TACACA	RBMS1	ENSG00000153250.21	transcript	ENST00000348849.8	protein_coding	1/13			chr2	TogoVar
RBMS1_chr2_160267151_160498807	160471691	G G	GTGTGTAT others(27): Show GTGTGTATGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01243.hp1 HG01981.hp2 others(1): Show HG00738.hp2 HG01243.hp1 HG01981.hp2 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0066 a0001c0001t0004g0083 a0001c0001t0004g0084 others(1): Show a0001c0001t0004g0066 a0001c0001t0004g0083 a0001c0001t0004g0084 a0001c0001t0004g0271	4	328	0.0122	34	c.75+ others(51): Show c.75+21597_75+21598insTATATATATATATATATATATATATACA TACACA	RBMS1	ENSG00000153250.21	transcript	ENST00000348849.8	protein_coding	1/13			chr2	TogoVar
RBMS3_chr3_29276071_30015386	29779706	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0053 a0001c0001t0006g0053	1	116	0.0086	34	c.637 others(53): Show c.637+16736_637+16737insTATATATATATATATATATATATATA TATATATA	RBMS3	ENSG00000144642.22	transcript	ENST00000383767.7	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
RBMS3_chr3_29276071_30015386	29930109	C C	CTTTCTTT others(27): Show CTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02451.hp1 HG03834.hp2 HG00099.hp2 HG02451.hp1 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0008 a0001c0001t0018 a0001c0003t0064 a0001c0001t0008 a0001c0001t0018 a0001c0003t0064	a0001c0001t0008g0079 a0001c0001t0018g0061 a0001c0003t0064g0072 a0001c0001t0008g0079 a0001c0001t0018g0061 a0001c0003t0064g0072	3	116	0.0259	34	c.940 others(51): Show c.940-5974_940-5973insCTTTCTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	RBMS3	ENSG00000144642.22	transcript	ENST00000383767.7	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
RBMS3_chr3_29276071_30015386	29962551	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03209.hp1 HG03453.hp2 others(1): Show HG02630.hp2 HG03209.hp1 HG03453.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0011 a0001c0001t0067 a0001c0001t0080 others(1): Show a0001c0001t0011 a0001c0001t0067 a0001c0001t0080 a0001c0002t0034	a0001c0001t0011g0037 a0001c0001t0067g0106 a0001c0001t0080g0033 others(1): Show a0001c0001t0011g0037 a0001c0001t0067g0106 a0001c0001t0080g0033 a0001c0002t0034g0114	4	116	0.0345	34	c.109 others(55): Show c.1098+18314_1098+18315insTATATATATATATATATATATATA TATATATATA	RBMS3	ENSG00000144642.22	transcript	ENST00000383767.7	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
RBMS3_chr3_29276071_30015386	29974842	T T	TTTTTATA others(27): Show TTTTTATATATAAAATACGTTTCTATATTTATATA	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0044 a0001c0002t0001g0044	1	116	0.0086	34	c.109 others(55): Show c.1099-13167_1099-13134dupATATTTTATATATAAAATACGTTT CTATATTTAT	RBMS3	ENSG00000144642.22	transcript	ENST00000383767.7	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
RBP2_chr3_139447884_139481516	139462558	A A	AACACACA others(27): Show AACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	266	0.0038	34	c.74- others(47): Show c.74-302_74-269dupGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GT	RBP2	ENSG00000114113.6	transcript	ENST00000232217.6	protein_coding	1/3			chr3	TogoVar
RBPJL_chr20_45301840_45322824	45305805	C C	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0011 a0001c0002t0001g0011	1	446	0.0022	34	c.-11 others(45): Show c.-1118_-1117insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	RBPJL	ENSG00000124232.11	transcript	ENST00000343694.8	protein_coding		1034		chr20	TogoVar
RC3H1_chr1_173926084_174027357	174017783	C C	CCAAAAAA others(27): Show CCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0064 a0001c0001t0064	a0001c0001t0064g0293 a0001c0001t0064g0293	1	310	0.0032	34	c.-15 others(53): Show c.-151+4312_-151+4313insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTG	RC3H1	ENSG00000135870.12	transcript	ENST00000367696.7	protein_coding	1/19			chr1	TogoVar
RCAN1_chr21_34511442_34620113	34541055	A A	AGTGCATG others(27): Show AGTGCATGAGTAGGTGGCCTGCAGTAATGTTAGCG	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0253 a0001c0001t0001g0253	1	378	0.0027	34	c.253 others(53): Show c.253-17346_253-17345insCGCTAACATTACTGCAGGCCACCTAC TCATGCAC	RCAN1	ENSG00000159200.18	transcript	ENST00000313806.9	protein_coding	1/3			chr21	TogoVar
RCAN2_chr6_46215736_46496449	46367022	G G	GATATATA others(27): Show GATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02622.hp2 NA18965.hp2 others(2): Show HG01243.hp1 HG02622.hp2 NA18965.hp2 NA19043.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0001t0016	a0001c0001t0001g0146 a0001c0001t0003g0127 a0001c0001t0005g0110 others(2): Show a0001c0001t0001g0146 a0001c0001t0003g0127 a0001c0001t0005g0110 a0001c0001t0009g0094 a0001c0001t0016g0049	5	158	0.0317	34	c.225 others(53): Show c.225+89729_225+89730insATATATATATATATATATATATATAT ATATATAT	RCAN2	ENSG00000172348.16	transcript	ENST00000371374.6	protein_coding	2/4			chr6	TogoVar
RCBTB2_chr13_48483963_48538080	48527318	C C	CTCATATA others(27): Show CTCATATATATATATATGATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0051 a0001c0001t0002g0051	1	320	0.0031	34	c.-21 others(53): Show c.-218-2562_-218-2561insTATATATATATATATATCATATATAT ATATATGA	RCBTB2	ENSG00000136161.13	transcript	ENST00000344532.8	protein_coding	1/14			chr13	TogoVar
RCBTB2_chr13_48483963_48538080	48527329	A A	ATATATAT others(27): Show ATATATATATGATATATATATATATGATATATATT	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	320	0.0031	34	c.-21 others(53): Show c.-218-2573_-218-2572insAATATATATCATATATATATATATCA TATATATA	RCBTB2	ENSG00000136161.13	transcript	ENST00000344532.8	protein_coding	1/14			chr13	TogoVar
RCBTB2_chr13_48483963_48538080	48527369	G G	GATATATA others(27): Show GATATATATATATATGATATATATTTATATATGAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG00609.hp2 others(40): Show HG00408.hp1 HG00438.hp1 HG00609.hp2 HG00741.hp2 HG01168.hp2 HG01169.hp2 HG01952.hp1 HG01975.hp1 HG01993.hp2 HG02074.hp1 HG02683.hp1 HG03017.hp1 HG04184.hp1 NA18747.hp1 NA18943.hp1 NA18945.hp1 NA18948.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18955.hp1 NA18960.hp1 NA18968.hp1 NA18969.hp1 NA18970.hp1 NA18975.hp1 NA18980.hp1 NA18989.hp2 NA18990.hp2 NA18993.hp2 NA19003.hp1 NA19006.hp1 NA19055.hp2 NA19063.hp2 NA19066.hp2 NA19070.hp1 NA19074.hp2 NA19077.hp1 NA19079.hp2 NA19083.hp1 NA19086.hp2 NA19090.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0006 a0001c0001t0001g0094 a0001c0001t0001g0095 others(39): Show a0001c0001t0001g0006 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0233 a0001c0001t0001g0302 a0001c0001t0005g0106 a0001c0001t0005g0110 a0001c0001t0005g0119 a0001c0001t0005g0123	43	320	0.1344	34	c.-21 others(53): Show c.-218-2613_-218-2612insATCATATATAAATATATATCATATAT ATATATAT	RCBTB2	ENSG00000136161.13	transcript	ENST00000344532.8	protein_coding	1/14			chr13	TogoVar
RCC1L_chr7_75037183_75078802	75072155	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03471.hp2 NA18954.hp2 HG03471.hp2 NA18954.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0002 a0003c0003t0002 a0002c0002t0002 a0003c0003t0002	a0002c0002t0002g0027 a0003c0003t0002g0028 a0002c0002t0002g0027 a0003c0003t0002g0028	2	270	0.0074	34	c.324 others(51): Show c.324+1258_324+1259insATATATATATATATATATATATATATAT ATATAT	RCC1L	ENSG00000274523.5	transcript	ENST00000610322.5	protein_coding	1/10			chr7	TogoVar
RCC2_chr1_17401760_17444677	17431359	A A	AAAATATA others(27): Show AAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0191 a0001c0002t0002g0191	1	390	0.0026	34	c.286 others(51): Show c.286-2161_286-2160insATATATATATATATATATATATATATAT ATATTT	RCC2	ENSG00000179051.14	transcript	ENST00000375436.9	protein_coding	2/12			chr1	TogoVar
RCOR2_chr11_63906230_63922164	63909549	C C	CTTTATTT others(27): Show CTTTATTTTCTTCTTTTTATAAATTACCTTCTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	324	0.0031	34	c.23 others(45): Show c.2315_*2316insAAGAGAAGGTAATTTATAAAAAGAAGAAAATAAA	RCOR2	ENSG00000167771.6	transcript	ENST00000301459.5	protein_coding		1680		chr11	TogoVar
RCOR3_chr1_211254366_211321385	211308182	A A	AGACACCA others(27): Show AGACACCATAAGAACGGAGGTTCAAAAGTATAATT	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0245 a0001c0001t0003g0245	1	324	0.0031	34	c.107 others(53): Show c.1075+4044_1075+4077dupACACCATAAGAACGGAGGTTCAAAAG TATAATTG	RCOR3	ENSG00000117625.14	transcript	ENST00000419091.7	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
RCSD1_chr1_167625232_167713696	167627369	C C	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	350	0.0029	34	c.-30 others(45): Show c.-3055_-3054insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	RCSD1	ENSG00000198771.11	transcript	ENST00000367854.8	protein_coding		2862		chr1	TogoVar
RD3L_chr14_103935426_103947529	103944171	C C	CACATTAT others(27): Show CACATTATCCCTCCTTCAAGGCCCTCTGCAGTCTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00558.hp2 HG00609.hp1 others(16): Show HG00423.hp2 HG00558.hp2 HG00609.hp1 HG00621.hp2 HG01069.hp1 HG01074.hp1 HG01168.hp1 HG01978.hp1 HG02523.hp2 NA18612.hp2 NA18955.hp1 NA18964.hp2 NA18965.hp1 NA19000.hp1 NA19011.hp2 NA19066.hp2 NA19070.hp2 NA19089.hp1 NA19090.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0003 a0002c0002t0002g0017 a0002c0002t0002g0003 a0002c0002t0002g0017	19	440	0.0432	34	c.-20 others(45): Show c.-2088_-2087insTAGACTGCAGAGGGCCTTGAAGGAGGGATAATGT	RD3L	ENSG00000227729.5	transcript	ENST00000557640.2	protein_coding		1643		chr14	TogoVar
RDX_chr11_110224441_110301614	110289956	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0231 a0001c0001t0003g0231	1	376	0.0027	34	c.-65 others(51): Show c.-65+6510_-65+6511insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	RDX	ENSG00000137710.17	transcript	ENST00000645495.2	protein_coding	1/13			chr11	TogoVar
RECK_chr9_36031913_36129455	36048126	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0283 a0001c0001t0001g0283	1	392	0.0026	34	c.101 others(51): Show c.101-4138_101-4105dupATATATATATATATATATATATATATAT ATATAT	RECK	ENSG00000122707.12	transcript	ENST00000377966.4	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr9	TogoVar
REEP1_chr2_86208993_86342626	86287511	T T	TTGTGCTT others(27): Show TTGTGCTTTGTGTTCTTAATAAAAATATAATTTTG	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0097 a0001c0001t0030g0097	1	320	0.0031	34	c.33- others(49): Show c.33-5303_33-5270dupCAAAATTATATTTTTATTAAGAACACAAAG CACA	REEP1	ENSG00000068615.20	transcript	ENST00000538924.7	protein_coding	1/8			chr2	TogoVar
REEP1_chr2_86208993_86342626	86335886	G G	GGTGCTAA others(27): Show GGTGCTAATAAAACTAATGATAGTCACATGACCCA	intron_variant intron_variant	MODIFIER	HG00609.hp2 NA18975.hp1 NA18983.hp2 others(1): Show HG00609.hp2 NA18975.hp1 NA18983.hp2 NA19083.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0010 a0001c0002t0001 a0001c0002t0010	a0001c0002t0001g0276 a0001c0002t0001g0277 a0001c0002t0001g0278 others(1): Show a0001c0002t0001g0276 a0001c0002t0001g0277 a0001c0002t0001g0278 a0001c0002t0010g0275	4	320	0.0125	34	c.32+ others(49): Show c.32+1559_32+1592dupTGGGTCATGTGACTATCATTAGTTTTATTA GCAC	REEP1	ENSG00000068615.20	transcript	ENST00000538924.7	protein_coding	1/8			chr2	TogoVar
REPS1_chr6_138898493_138993253	138947035	G G	GCTCTCTC others(27): Show GCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0302 a0001c0001t0001g0302	1	390	0.0026	34	c.277 others(49): Show c.277+721_277+754dupAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAG	REPS1	ENSG00000135597.19	transcript	ENST00000450536.7	protein_coding	2/19			chr6	TogoVar
RERE_chr1_8347404_8822640	8403825	C C	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03540.hp2 HG02647.hp2 HG03540.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0007 a0001c0010t0013 a0001c0010t0007 a0001c0010t0013	a0001c0010t0007g0026 a0001c0010t0013g0024 a0001c0010t0007g0026 a0001c0010t0013g0024	2	204	0.0098	34	c.128 others(55): Show c.1284+18901_1284+18902insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	12/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8516227	G G	GAAAAAAA others(27): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0054 a0001c0001t0016g0054	1	204	0.0049	34	c.831 others(51): Show c.831-7553_831-7552insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	7/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8789301	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03491.hp1 NA18964.hp1 HG03491.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0006 a0001c0001t0003 a0001c0002t0006	a0001c0001t0003g0093 a0001c0002t0006g0145 a0001c0001t0003g0093 a0001c0002t0006g0145	2	204	0.0098	34	c.-14 others(55): Show c.-145+27858_-145+27859insATATATATATATATATATTTTTTT TTTTTTTTTT	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	1/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8789301	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0146 a0001c0004t0006g0146	1	204	0.0049	34	c.-14 others(55): Show c.-145+27858_-145+27859insATATATATATATATATATATTTTT TTTTTTTTTT	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	1/22			chr1	TogoVar
RERG_chr12_15102783_15226417	15133146	G G	GATATATA others(27): Show GATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0283 a0001c0001t0001g0283	1	300	0.0033	34	c.62- others(51): Show c.62-12028_62-12027insATATATATATATATATATATATATATAT ATATAT	RERG	ENSG00000134533.6	transcript	ENST00000256953.6	protein_coding	2/4			chr12	TogoVar
REST_chr4_56902900_56940844	56905329	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG01358.hp2 HG01981.hp1 others(11): Show HG00639.hp1 HG01358.hp2 HG01981.hp1 HG02083.hp2 HG02257.hp1 HG02523.hp1 HG02886.hp1 HG03098.hp1 HG03239.hp2 NA18747.hp1 NA19011.hp1 NA19077.hp1 NA19079.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0003 a0001c0001t0006 a0001c0001t0010 others(3): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0010 a0001c0001t0011 a0001c0001t0020 a0001c0013t0006	a0001c0001t0003g0002 a0001c0001t0003g0018 a0001c0001t0003g0019 others(9): Show a0001c0001t0003g0002 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0158 a0001c0001t0003g0160 a0001c0001t0003g0165 a0001c0001t0006g0173 a0001c0001t0010g0003 a0001c0001t0010g0189 a0001c0001t0011g0182 a0001c0001t0020g0155 a0001c0013t0006g0003	14	408	0.0343	34	c.-28 others(45): Show c.-2894_-2893insATATATATATATATATATATATATATATATATAT	REST	ENSG00000084093.19	transcript	ENST00000309042.12	protein_coding		2570		chr4	TogoVar
REST_chr4_56902900_56940844	56905347	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATATATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02300.hp1 HG02622.hp2 HG03540.hp1 others(3): Show HG02300.hp1 HG02622.hp2 HG03540.hp1 HG03688.hp2 NA18522.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0001 a0002c0002t0008 a0001c0001t0004 a0002c0002t0001 a0002c0002t0008	a0001c0001t0004g0029 a0002c0002t0001g0252 a0002c0002t0008g0236 others(2): Show a0001c0001t0004g0029 a0002c0002t0001g0252 a0002c0002t0008g0236 a0002c0002t0008g0237 a0002c0002t0008g0239	6	408	0.0147	34	c.-28 others(45): Show c.-2876_-2875insATATATATATATATATATATATATATATATATAA	REST	ENSG00000084093.19	transcript	ENST00000309042.12	protein_coding		2552		chr4	TogoVar
REST_chr4_56902900_56940844	56905348	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03017.hp2 NA18944.hp2 NA18957.hp2 HG03017.hp2 NA18944.hp2 NA18957.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0005 a0004c0004t0005	a0004c0004t0005g0021 a0004c0004t0005g0042 a0004c0004t0005g0203 a0004c0004t0005g0021 a0004c0004t0005g0042 a0004c0004t0005g0203	3	408	0.0074	34	c.-28 others(45): Show c.-2875_-2874insTATATATATATATATATATATATATATATATATG	REST	ENSG00000084093.19	transcript	ENST00000309042.12	protein_coding		2551		chr4	TogoVar
RETREG3_chr17_42574515_42614374	42577634	G G	GGAGGGCA others(27): Show GGAGGGCAGTGGGTGAGGAGGTCGGTTGAGTGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0033 a0001c0001t0015g0033	1	360	0.0028	34	c.41 others(45): Show c.4178_*4179insGGCCACTCAACCGACCTCCTCACCCACTGCCCTC	RETREG3	ENSG00000141699.11	transcript	ENST00000309428.10	protein_coding		1880		chr17	TogoVar
REX1BD_chr19_18583798_18597337	18596005	T T	TCTGGAGG others(27): Show TCTGGAGGCCGTGAAGGTGGAACCGGTGGGCTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	424	0.0024	34	c.38 others(45): Show c.3825_*3826insCTGGAGGCCGTGAAGGTGGAACCGGTGGGCTGTG	REX1BD	ENSG00000006015.18	transcript	ENST00000358607.11	protein_coding		3669		chr19	TogoVar
RFC1_chr4_39282456_39371362	39329127	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0101 a0001c0002t0002g0101	1	276	0.0036	34	c.332 others(51): Show c.332-1372_332-1371insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	RFC1	ENSG00000035928.17	transcript	ENST00000349703.7	protein_coding	4/24			chr4	TogoVar
RFC3_chr13_33813149_33842500	33834329	T T	TATATATA others(27): Show TATATATATATATATATATATATATATACACATAC	intron_variant intron_variant	MODIFIER	HG03225.hp2 NA18982.hp2 NA19054.hp2 HG03225.hp2 NA18982.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0021 a0001c0001t0002g0021	3	416	0.0072	34	c.810 others(49): Show c.810-817_810-816insATATATATATATATATATATATATACACAT ACAT	RFC3	ENSG00000133119.13	transcript	ENST00000380071.8	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
RFLNA_chr12_124290093_124321024	124290111	T T	TAAAAATA others(27): Show TAAAAATAGGCAAGAGCCCGGGGCTCTCCCTAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0293 a0001c0001t0001g0293	1	388	0.0026	34	c.-53 others(45): Show c.-5319_-5318insAAAAATAGGCAAGAGCCCGGGGCTCTCCCTAGGA	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding		4981		chr12	TogoVar
RFLNA_chr12_124290093_124321024	124296124	C C	CTTTCTTT others(27): Show CTTTCTTTCTTTCTTTCTTTCTCTCTCTCTCTCTT	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0155 a0001c0002t0003g0155	1	388	0.0026	34	c.207 others(49): Show c.207+489_207+490insTTCTTTCTTTCTTTCTTTCTCTCTCTCTCT CTTT	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
RFTN1_chr3_16310845_16518699	16403646	A A	ATATATTA others(27): Show ATATATTATATTATATAATATATATTATATTATAT	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	268	0.0037	34	c.441 others(51): Show c.441+5728_441+5729insATATAATATAATATATATTATATAATAT AATATA	RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding	4/9			chr3	TogoVar
RFTN1_chr3_16310845_16518699	16415430	T T	TATATATA others(27): Show TATATATACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG04199.hp1 NA18955.hp2 others(1): Show HG01978.hp1 HG04199.hp1 NA18955.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0002t0007 a0001c0001t0001 a0001c0002t0002 a0001c0002t0007	a0001c0001t0001g0075 a0001c0001t0001g0217 a0001c0002t0002g0078 others(1): Show a0001c0001t0001g0075 a0001c0001t0001g0217 a0001c0002t0002g0078 a0001c0002t0007g0051	4	268	0.0149	34	c.333 others(51): Show c.333-5948_333-5947insGTGTGTGTGTGTGTGTGTGTGTGTGTGT ATATAT	RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding	3/9			chr3	TogoVar
RFTN1_chr3_16310845_16518699	16415430	T T	TATATATA others(27): Show TATATATATATATATATATATATACACACACACAC	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0054 a0001c0002t0002g0054	1	268	0.0037	34	c.333 others(51): Show c.333-5948_333-5947insGTGTGTGTGTGTATATATATATATATAT ATATAT	RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding	3/9			chr3	TogoVar
RFTN1_chr3_16310845_16518699	16415430	T T	TATATATA others(27): Show TATATATATATATATATATATATATACACACACAC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0139 a0002c0003t0003g0139	1	268	0.0037	34	c.333 others(51): Show c.333-5948_333-5947insGTGTGTGTGTATATATATATATATATAT ATATAT	RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding	3/9			chr3	TogoVar
RFX7_chr15_56082280_56248879	56141656	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01975.hp2 HG02486.hp2 others(11): Show HG00438.hp2 HG01975.hp2 HG02486.hp2 HG02647.hp2 HG02683.hp1 HG02895.hp2 HG03831.hp1 NA18948.hp2 NA18959.hp1 NA18987.hp2 NA19030.hp1 NA19043.hp2 NA19065.hp1 NA19072.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0001c0003 a0008c0014 a0001c0001 a0001c0003 a0008c0014	a0001c0001t0001 a0001c0001t0007 a0001c0003t0001 others(3): Show a0001c0001t0001 a0001c0001t0007 a0001c0003t0001 a0001c0003t0004 a0001c0003t0028 a0008c0014t0014	a0001c0001t0001g0293 a0001c0001t0001g0347 a0001c0001t0007g0013 others(11): Show a0001c0001t0001g0293 a0001c0001t0001g0347 a0001c0001t0007g0013 a0001c0001t0007g0014 a0001c0001t0007g0016 a0001c0001t0007g0017 a0001c0003t0001g0328 a0001c0003t0004g0276 a0001c0003t0004g0283 a0001c0003t0004g0312 a0001c0003t0004g0324 a0001c0003t0004g0325 a0001c0003t0028g0029 a0008c0014t0014g0358	14	360	0.0389	34	c.401 others(51): Show c.401+1121_401+1122insATATATATATATATATATATATATATAT ATATAT	RFX7	ENSG00000181827.16	transcript	ENST00000559447.8	protein_coding	5/9			chr15	TogoVar
RFX7_chr15_56082280_56248879	56141656	A A	ACTATATA others(27): Show ACTATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00609.hp1 HG01346.hp2 others(28): Show HG00408.hp2 HG00609.hp1 HG01346.hp2 HG01891.hp1 HG01952.hp1 HG01978.hp1 HG02040.hp2 HG02258.hp1 HG02273.hp1 HG02572.hp1 HG02818.hp2 HG03017.hp2 HG03130.hp2 HG03453.hp2 HG03654.hp2 HG03669.hp1 NA18943.hp1 NA18953.hp2 NA18981.hp1 NA18984.hp2 NA18991.hp2 NA18993.hp1 NA18994.hp2 NA19009.hp1 NA19030.hp2 NA19043.hp1 NA19055.hp1 NA19072.hp1 NA19074.hp1 NA19074.hp2 NA19088.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0009c0018	a0001c0001t0001 a0001c0001t0016 a0001c0001t0019 others(6): Show a0001c0001t0001 a0001c0001t0016 a0001c0001t0019 a0001c0001t0023 a0001c0001t0045 a0001c0002t0002 a0001c0002t0009 a0001c0004t0011 a0009c0018t0046	a0001c0001t0001g0213 a0001c0001t0016g0232 a0001c0001t0019g0235 others(28): Show a0001c0001t0001g0213 a0001c0001t0016g0232 a0001c0001t0019g0235 a0001c0001t0023g0240 a0001c0001t0023g0241 a0001c0001t0045g0230 a0001c0002t0002g0040 a0001c0002t0002g0043 a0001c0002t0002g0044 a0001c0002t0002g0045 a0001c0002t0002g0049 a0001c0002t0002g0050 a0001c0002t0002g0054 a0001c0002t0002g0059 a0001c0002t0002g0064 a0001c0002t0002g0071 a0001c0002t0002g0072 a0001c0002t0002g0076 a0001c0002t0002g0078 a0001c0002t0002g0086 a0001c0002t0002g0089 a0001c0002t0002g0097 a0001c0002t0002g0104 a0001c0002t0002g0105 a0001c0002t0002g0109 a0001c0002t0002g0116 a0001c0002t0002g0120 a0001c0002t0002g0129 a0001c0002t0009g0121 a0001c0004t0011g0226 a0009c0018t0046g0231	31	360	0.0861	34	c.401 others(51): Show c.401+1121_401+1122insATATATATATATATATATATATATATAT ATATAG	RFX7	ENSG00000181827.16	transcript	ENST00000559447.8	protein_coding	5/9			chr15	TogoVar
RFX8_chr2_101392359_101480112	101469096	A A	ATATATAT others(27): Show ATATATATATGTATATATATACGTATATATATATG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0011 a0011	a0011c0014 a0011c0014	a0011c0014t0003 a0011c0014t0003	a0011c0014t0003g0093 a0011c0014t0003g0093	1	352	0.0028	34	c.-52 others(51): Show c.-52-2197_-52-2196insCATATATATATACGTATATATATACATA TATATA	RFX8	ENSG00000196460.14	transcript	ENST00000428343.6	protein_coding	1/11			chr2	TogoVar
RGL3_chr19_11389060_11424314	11413117	A A	ATGGTGGA others(27): Show ATGGTGGAAAAATTATCTATCTGCTATGTCCAGTG	intron_variant intron_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0116 a0006c0010t0001g0116	1	402	0.0025	34	c.637 others(51): Show c.637+2786_637+2819dupCACTGGACATAGCAGATAGATAATTTTT CCACCA	RGL3	ENSG00000205517.13	transcript	ENST00000380456.8	protein_coding	5/18			chr19	TogoVar
RGL3_chr19_11389060_11424314	11414181	C C	CTATATAT others(27): Show CTATATATATATACCTTTATATATATATATACCTT	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0175 a0005c0005t0001g0175	1	402	0.0025	34	c.637 others(51): Show c.637+1722_637+1755dupAAGGTATATATATATATAAAGGTATATA TATATA	RGL3	ENSG00000205517.13	transcript	ENST00000380456.8	protein_coding	5/18			chr19	TogoVar

Search by Variant

Search

Search Results (Total: 7994 hits)