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 (≤).

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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
RHO_chr3_129523639_129540344	129538525	C C	CCCTCCCT others(33): Show CCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0091 a0001c0001t0003g0091	1	404	0.0025	40	c.48 others(51): Show c.4807_*4808insCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTT	RHO	ENSG00000163914.5	transcript	ENST00000296271.4	protein_coding		3182		chr3	TogoVar
RHO_chr3_129523639_129540344	129538525	C C	CCCTCCCT others(33): Show CCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG01167.hp2 HG01243.hp2 HG00738.hp2 HG01167.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0038 a0001c0001t0005g0042 a0001c0001t0005g0078 a0001c0001t0005g0038 a0001c0001t0005g0042 a0001c0001t0005g0078	3	404	0.0074	40	c.48 others(51): Show c.4807_*4808insCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTT	RHO	ENSG00000163914.5	transcript	ENST00000296271.4	protein_coding		3182		chr3	TogoVar
RIC3_chr11_8101056_8174025	8137803	T T	TCTAGTCT others(33): Show TCTAGTCTATAAATTCTTGAGGAAAGAGCCATGTTGTATAA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01167.hp2 HG01169.hp1 others(27): Show HG00738.hp1 HG01167.hp2 HG01169.hp1 HG01255.hp1 HG01884.hp2 HG02132.hp1 HG02615.hp1 HG02683.hp2 HG02735.hp1 HG02738.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG03017.hp2 HG03098.hp2 HG03195.hp2 HG03540.hp1 NA18906.hp1 NA18940.hp1 NA18942.hp1 NA18949.hp2 NA18960.hp2 NA18993.hp1 NA19001.hp2 NA19005.hp1 NA19074.hp1 NA19091.hp1 NA19240.hp2 NA20129.hp1 NA21309.hp1	a0002 a0003 a0002 a0003	a0002c0004 a0003c0003 a0002c0004 a0003c0003	a0002c0004t0005 a0002c0004t0015 a0002c0004t0016 others(3): Show a0002c0004t0005 a0002c0004t0015 a0002c0004t0016 a0002c0004t0020 a0002c0004t0045 a0003c0003t0005	a0002c0004t0005g0008 a0002c0004t0005g0327 a0002c0004t0005g0328 others(26): Show a0002c0004t0005g0008 a0002c0004t0005g0327 a0002c0004t0005g0328 a0002c0004t0005g0329 a0002c0004t0005g0330 a0002c0004t0005g0331 a0002c0004t0005g0332 a0002c0004t0005g0333 a0002c0004t0005g0336 a0002c0004t0005g0338 a0002c0004t0005g0341 a0002c0004t0005g0342 a0002c0004t0005g0343 a0002c0004t0005g0344 a0002c0004t0005g0345 a0002c0004t0005g0346 a0002c0004t0005g0347 a0002c0004t0005g0350 a0002c0004t0005g0353 a0002c0004t0015g0334 a0002c0004t0015g0337 a0002c0004t0015g0339 a0002c0004t0016g0354 a0002c0004t0016g0355 a0002c0004t0016g0356 a0002c0004t0020g0340 a0002c0004t0020g0349 a0002c0004t0045g0348 a0003c0003t0005g0058	30	370	0.0811	40	c.428 others(55): Show c.428-372_428-333dupTTATACAACATGGCTCTTTCCTCAAGAATT TATAGACTAG	RIC3	ENSG00000166405.16	transcript	ENST00000309737.11	protein_coding	3/5			chr11	TogoVar
RICTOR_chr5_38932920_39079399	38990691	A A	ATGATATA others(33): Show ATGATATATATCAGATATATATATCTGATATATATCATATC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03195.hp1 HG02922.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0087 a0001c0001t0022g0088 a0001c0001t0022g0087 a0001c0001t0022g0088	2	338	0.0059	40	c.583 others(55): Show c.583+257_583+258insGATATGATATATATCAGATATATATATCTG ATATATATCA	RICTOR	ENSG00000164327.14	transcript	ENST00000357387.8	protein_coding	7/37			chr5	TogoVar
RICTOR_chr5_38932920_39079399	39006695	A A	AGGGAGAG others(33): Show AGGGAGAGGAGGGGAGAGGAGGGGAGAGGAGGGGAGAGGAG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01192.hp1 HG02451.hp1 others(8): Show HG01081.hp1 HG01192.hp1 HG02451.hp1 HG02559.hp1 HG02922.hp1 HG03017.hp2 HG03516.hp1 NA18946.hp1 NA19054.hp1 NA19057.hp2 NA19066.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0003 a0001c0001 a0002c0002 a0002c0003	a0001c0001t0002 a0001c0001t0014 a0002c0002t0011 others(1): Show a0001c0001t0002 a0001c0001t0014 a0002c0002t0011 a0002c0003t0005	a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0028 others(8): Show a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0028 a0001c0001t0002g0030 a0001c0001t0002g0047 a0001c0001t0002g0050 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0014g0027 a0002c0002t0011g0290 a0002c0003t0005g0212	11	338	0.0325	40	c.196 others(57): Show c.196-3113_196-3074dupCTCCTCTCCCCTCCTCTCCCCTCCTCTC CCCTCCTCTCCC	RICTOR	ENSG00000164327.14	transcript	ENST00000357387.8	protein_coding	3/37			chr5	TogoVar
RICTOR_chr5_38932920_39079399	39075284	T T	TACACACA others(33): Show TACACACACACACACACACACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	338	0.0030	40	c.-90 others(49): Show c.-908_-907insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT	RICTOR	ENSG00000164327.14	transcript	ENST00000357387.8	protein_coding		886		chr5	TogoVar
RIGI_chr9_32450302_32531196	32508239	A A	ATTTTTTT others(33): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	344	0.0029	40	c.107 others(57): Show c.107-7301_107-7300insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAA	RIGI	ENSG00000107201.11	transcript	ENST00000379883.3	protein_coding	1/17			chr9	TogoVar
RIMBP2_chr12_130391133_130721299	130713189	A A	AGAAGGAA others(33): Show AGAAGGAAGGAAGGAAGGAAGGAAGATAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0138 a0001c0007t0001g0138	1	180	0.0056	40	c.-35 others(59): Show c.-352+3032_-352+3033insCTTCCTTCCTTCCTATCTTCCTTCCT TCCTTCCTTCCTTC	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130713215	A A	AAGGAAGG others(33): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGAT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00642.hp1 HG01074.hp1 others(2): Show HG00544.hp1 HG00642.hp1 HG01074.hp1 HG02717.hp1 NA19011.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0001c0008 a0002c0016 others(1): Show a0001c0001 a0001c0008 a0002c0016 a0008c0015	a0001c0001t0002 a0001c0008t0001 a0002c0016t0001 others(1): Show a0001c0001t0002 a0001c0008t0001 a0002c0016t0001 a0008c0015t0001	a0001c0001t0002g0008 a0001c0001t0002g0064 a0001c0008t0001g0134 others(2): Show a0001c0001t0002g0008 a0001c0001t0002g0064 a0001c0008t0001g0134 a0002c0016t0001g0135 a0008c0015t0001g0133	5	180	0.0278	40	c.-35 others(59): Show c.-352+3006_-352+3007insATCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCT	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130713219	A A	AAGGAAGG others(33): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGAT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02109.hp2 HG02630.hp1 others(3): Show HG01346.hp1 HG02109.hp2 HG02630.hp1 HG02647.hp1 HG03130.hp2 NA19064.hp1	a0001 a0002 a0018 a0001 a0002 a0018	a0001c0001 a0001c0004 a0001c0020 others(3): Show a0001c0001 a0001c0004 a0001c0020 a0002c0010 a0002c0026 a0018c0042	a0001c0001t0001 a0001c0004t0001 a0001c0020t0001 others(3): Show a0001c0001t0001 a0001c0004t0001 a0001c0020t0001 a0002c0010t0001 a0002c0026t0001 a0018c0042t0001	a0001c0001t0001g0119 a0001c0004t0001g0121 a0001c0020t0001g0118 others(3): Show a0001c0001t0001g0119 a0001c0004t0001g0121 a0001c0020t0001g0118 a0002c0010t0001g0122 a0002c0026t0001g0117 a0018c0042t0001g0120	6	180	0.0333	40	c.-35 others(59): Show c.-352+3002_-352+3003insATCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCT	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130713223	A A	AAGGAAGG others(33): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGAT	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG02559.hp2 HG01516.hp2 HG02559.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0009 a0001c0002 a0002c0009	a0001c0002t0001 a0002c0009t0001 a0001c0002t0001 a0002c0009t0001	a0001c0002t0001g0110 a0002c0009t0001g0174 a0001c0002t0001g0110 a0002c0009t0001g0174	2	180	0.0111	40	c.-35 others(59): Show c.-352+2998_-352+2999insATCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCT	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RIMS1_chr6_71881550_72408145	72092291	C C	CCCTCCCT others(33): Show CCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp2 HG01192.hp2 HG01168.hp1 HG01169.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0020 a0001c0001t0002 a0001c0001t0020	a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0020g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0020g0129	3	140	0.0214	40	c.246 others(57): Show c.246-4655_246-4654insCCCTCCCTCCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCT	RIMS1	ENSG00000079841.20	transcript	ENST00000521978.6	protein_coding	2/33		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIMS1_chr6_71881550_72408145	72092291	C C	CCCTCCCT others(33): Show CCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG04204.hp2 NA19085.hp1 HG02602.hp1 HG04204.hp2 NA19085.hp1	a0001 a0005 a0001 a0005	a0001c0003 a0005c0021 a0001c0003 a0005c0021	a0001c0003t0004 a0001c0003t0017 a0005c0021t0006 a0001c0003t0004 a0001c0003t0017 a0005c0021t0006	a0001c0003t0004g0124 a0001c0003t0017g0062 a0005c0021t0006g0006 a0001c0003t0004g0124 a0001c0003t0017g0062 a0005c0021t0006g0006	3	140	0.0214	40	c.246 others(57): Show c.246-4655_246-4654insCCCTCCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCT	RIMS1	ENSG00000079841.20	transcript	ENST00000521978.6	protein_coding	2/33		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIMS2_chr8_103495610_104259430	103813389	C C	CTTCTTTC others(33): Show CTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0169 a0001c0001t0006g0169	1	172	0.0058	40	c.830 others(59): Show c.830+46878_830+46879insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTT	RIMS2	ENSG00000176406.25	transcript	ENST00000696799.1	protein_coding	6/29		INFO_REALIGN_3_PRIME	chr8	TogoVar
RIMS2_chr8_103495610_104259430	103876875	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0128 a0001c0007t0001g0128	1	172	0.0058	40	c.831 others(57): Show c.831-8388_831-8387insTATACATATATATATATATATATATATA TATATATATATA	RIMS2	ENSG00000176406.25	transcript	ENST00000696799.1	protein_coding	6/29		INFO_REALIGN_3_PRIME	chr8	TogoVar
RIMS2_chr8_103495610_104259430	104100834	A A	ATAATATA others(33): Show ATAATATATATGTATTATATATGTAATATATATTATATATG	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0008 a0003c0009t0008	a0003c0009t0008g0145 a0003c0009t0008g0145	1	172	0.0058	40	c.386 others(59): Show c.3866+7202_3866+7241dupGTATTATATATGTAATATATATTATA TATGTAATATATAT	RIMS2	ENSG00000176406.25	transcript	ENST00000696799.1	protein_coding	24/29		INFO_REALIGN_3_PRIME	chr8	TogoVar
RIN2_chr20_19753258_20007456	19923469	T T	TAAAATAA others(33): Show TAAAATAAAATAAAATAAATAAAATAAAATAAAATAAAATA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0265 a0001c0001t0002g0265	1	276	0.0036	40	c.58- others(57): Show c.58-11627_58-11626insATAAAATAAAATAAATAAAATAAAATAA AATAAAATAAAA	RIN2	ENSG00000132669.14	transcript	ENST00000255006.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
RIN3_chr14_92508781_92693994	92666038	A A	ACCTCCAC others(33): Show ACCTCCACCACTGACCTACTTCCTCCACCACTGACCTACTT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02895.hp1 HG02896.hp1 HG02622.hp2 HG02895.hp1 HG02896.hp1	a0002 a0005 a0002 a0005	a0002c0030 a0005c0027 a0002c0030 a0005c0027	a0002c0030t0001 a0005c0027t0001 a0002c0030t0001 a0005c0027t0001	a0002c0030t0001g0189 a0005c0027t0001g0201 a0005c0027t0001g0203 a0002c0030t0001g0189 a0005c0027t0001g0201 a0005c0027t0001g0203	3	334	0.0090	40	c.233 others(59): Show c.2335+6603_2335+6604insCTACTTCCTCCACCACTGACCTACTT CCTCCACCACTGAC	RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
RIOK3_chr18_23448287_23488140	23451472	C C	CAAAAGAA others(33): Show CAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp1 HG01258.hp1 HG02040.hp1 HG01256.hp1 HG01258.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0143 a0001c0001t0001g0014 a0001c0001t0001g0143	3	402	0.0075	40	c.-19 others(51): Show c.-1968_-1967insAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAG	RIOK3	ENSG00000101782.15	transcript	ENST00000339486.8	protein_coding		1814		chr18	TogoVar
RIOX2_chr3_97936818_97977431	97946586	G G	GTATATAT others(33): Show GTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0175 a0003c0003t0001g0175	1	370	0.0027	40	c.115 others(57): Show c.1150-700_1150-699insTATATATATATATATATATATATATATA TATATATATATA	RIOX2	ENSG00000170854.18	transcript	ENST00000394198.7	protein_coding	8/9			chr3	TogoVar
RIPK2_chr8_89752816_89796064	89753765	A A	ATATATTT others(33): Show ATATATTTATATATTATATATATATTTATATATATATTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	380	0.0026	40	c.-42 others(51): Show c.-4296_-4295insTATATTTATATATTATATATATATTTATATATAT ATTTTT	RIPK2	ENSG00000104312.8	transcript	ENST00000220751.5	protein_coding		4050		chr8	TogoVar
RIPK2_chr8_89752816_89796064	89753834	T T	TAATATAT others(33): Show TAATATATATATAAATATATATATTTATATATACATATTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 NA19030.hp2 NA20129.hp1 HG01167.hp2 NA19030.hp2 NA20129.hp1	a0002 a0004 a0002 a0004	a0002c0004 a0004c0007 a0002c0004 a0004c0007	a0002c0004t0001 a0004c0007t0003 a0002c0004t0001 a0004c0007t0003	a0002c0004t0001g0021 a0004c0007t0003g0069 a0004c0007t0003g0070 a0002c0004t0001g0021 a0004c0007t0003g0069 a0004c0007t0003g0070	3	380	0.0079	40	c.-42 others(51): Show c.-4227_-4226insAATATATATATAAATATATATATTTATATATACA TATTTA	RIPK2	ENSG00000104312.8	transcript	ENST00000220751.5	protein_coding		3981		chr8	TogoVar
RIT2_chr18_42738227_43120685	42809826	T T	TATATATA others(33): Show TATATATATAATTTGTATATATGTTATATATATTATATATA	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	240	0.0042	40	c.427 others(59): Show c.427-66146_427-66107dupTATATATAATATATATAACATATATA CAAATTATATATAT	RIT2	ENSG00000152214.14	transcript	ENST00000326695.10	protein_coding	4/4			chr18	TogoVar
RMND5A_chr2_86715291_86783041	86737574	C C	CATATATA others(33): Show CATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02976.hp2 HG02818.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0017 a0001c0001t0016 a0001c0001t0017	a0001c0001t0016g0100 a0001c0001t0017g0099 a0001c0001t0016g0100 a0001c0001t0017g0099	2	304	0.0066	40	c.143 others(57): Show c.143-3333_143-3332insATATATATATATATATATATATATATAT ATATATATATAT	RMND5A	ENSG00000153561.13	transcript	ENST00000283632.5	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
RNASE2_chr14_20950487_20961436	20951885	A A	AAAGAAAG others(33): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGGAAGGAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	410	0.0024	40	c.-36 others(51): Show c.-3657_-3656insAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGGAA GGAAGG	RNASE2	ENSG00000169385.3	transcript	ENST00000304625.3	protein_coding		3601		chr14	TogoVar
RNASE2_chr14_20950487_20961436	20951885	A A	AAAGAAAG others(33): Show AAAGAAAGAAAGAAAGAAAGGAAGGAAGGAAGGAAGGAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	410	0.0024	40	c.-36 others(51): Show c.-3657_-3656insAAGAAAGAAAGAAAGAAAGGAAGGAAGGAAGGAA GGAAGG	RNASE2	ENSG00000169385.3	transcript	ENST00000304625.3	protein_coding		3601		chr14	TogoVar
RNASE8_chr14_21052822_21063455	21057618	C C	CATATATA others(33): Show CATATATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 NA18961.hp1 HG02809.hp2 NA18961.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0000 a0002c0002t0002g0000	2	448	0.0045	40	c.-27 others(49): Show c.-275_-274insATATATATATATATATATATATATATATATATATAT ATAT	RNASE8	ENSG00000173431.2	transcript	ENST00000308227.2	protein_coding		203		chr14	TogoVar
RNF11_chr1_51231273_51278447	51234283	T T	TTCTTTTT others(33): Show TTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0019 a0001c0001t0008g0019	1	274	0.0037	40	c.-24 others(51): Show c.-2474_-2473insTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTC	RNF11	ENSG00000123091.5	transcript	ENST00000242719.4	protein_coding		1989		chr1	TogoVar
RNF121_chr11_71924046_72002597	71942803	T T	TATATATA others(33): Show TATATATATATATATAGATATAGATATATATATGTACACAA	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0226 a0001c0002t0006g0226	1	254	0.0039	40	c.63+ others(57): Show c.63+13680_63+13681insTATATATATATATAGATATAGATATATA TATGTACACAAA	RNF121	ENSG00000137522.18	transcript	ENST00000361756.8	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
RNF130_chr5_179950067_180076759	179998857	T T	TTATATAT others(33): Show TTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0164 a0001c0003t0001g0164	1	340	0.0029	40	c.693 others(59): Show c.693+14203_693+14204insTATATATATATATATATATATATATA TATATATATATATA	RNF130	ENSG00000113269.14	transcript	ENST00000521389.6	protein_coding	3/8			chr5	TogoVar
RNF135_chr17_30966039_31004911	30983353	A A	ATATATAT others(33): Show ATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0070 a0003c0003t0001g0070	1	266	0.0038	40	c.373 others(57): Show c.373-1263_373-1262insATATATATATATTTTTTTTTTTTTTTTT TTTTTTTTTTTT	RNF135	ENSG00000181481.14	transcript	ENST00000328381.10	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF139_chr8_124469880_124493618	124489658	C C	CCCACCTG others(33): Show CCCACCTGGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0005 a0003c0005t0001g0005	1	408	0.0025	40	c.20 others(51): Show c.2014_*2015insCCACCTGGGCCTCCCAAAGTGCTGGGATTACAGG TGTGAG	RNF139	ENSG00000170881.5	transcript	ENST00000303545.4	protein_coding		1041		chr8	TogoVar
RNF141_chr11_10506673_10546187	10539687	C C	CATATATA others(33): Show CATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03209.hp2 NA19030.hp1 HG03195.hp1 HG03209.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0047 a0001c0001t0006g0048 a0001c0001t0006g0049 a0001c0001t0006g0047 a0001c0001t0006g0048 a0001c0001t0006g0049	3	374	0.0080	40	c.-48 others(57): Show c.-48+1434_-48+1435insATATATATATATATATATATATATATAT ATATATATATAT	RNF141	ENSG00000110315.7	transcript	ENST00000265981.7	protein_coding	1/5			chr11	TogoVar
RNF141_chr11_10506673_10546187	10539691	C C	CATATATA others(33): Show CATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01258.hp1 HG01981.hp2 others(12): Show HG00738.hp2 HG01258.hp1 HG01981.hp2 HG01993.hp1 HG02135.hp1 HG02300.hp1 HG02630.hp1 HG02886.hp1 HG02922.hp2 HG03098.hp2 HG03471.hp1 HG03834.hp1 NA18990.hp1 NA19011.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0023 a0001c0001t0002 a0001c0001t0004 a0001c0001t0023	a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0228 others(10): Show a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0004g0222 a0001c0001t0004g0223 a0001c0001t0004g0225 a0001c0001t0004g0226 a0001c0001t0004g0227 a0001c0001t0023g0224	15	374	0.0401	40	c.-48 others(57): Show c.-48+1430_-48+1431insATATATATATATATATATATATATATAT ATATATATATAT	RNF141	ENSG00000110315.7	transcript	ENST00000265981.7	protein_coding	1/5			chr11	TogoVar
RNF151_chr16_1961856_1973949	1962059	A A	AACACGCT others(33): Show AACACGCTTAATTCACTTTATTTTTCTTGTATAAAAACCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	432	0.0023	40	c.-48 others(51): Show c.-4823_-4822insACACGCTTAATTCACTTTATTTTTCTTGTATAAA AACCCT	RNF151	ENSG00000179580.10	transcript	ENST00000569714.6	protein_coding		4796		chr16	TogoVar
RNF157_chr17_76137474_76245493	76182760	C C	CATATATA others(33): Show CATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA19240.hp2 NA18522.hp1 NA19240.hp2	a0001 a0007 a0001 a0007	a0001c0005 a0007c0017 a0001c0005 a0007c0017	a0001c0005t0008 a0007c0017t0002 a0001c0005t0008 a0007c0017t0002	a0001c0005t0008g0197 a0007c0017t0002g0150 a0001c0005t0008g0197 a0007c0017t0002g0150	2	234	0.0086	40	c.208 others(57): Show c.208-8971_208-8970insATATATATATATATATATATATATATAT ATATATATATAT	RNF157	ENSG00000141576.16	transcript	ENST00000269391.11	protein_coding	2/18			chr17	TogoVar
RNF17_chr13_24759169_24884921	24881881	G G	GATATATA others(33): Show GATATATAGATACATCTATATAGATATATAGATACATCTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0145 a0001c0008t0001g0145	1	426	0.0024	40	c.21 others(51): Show c.2155_*2156insATATATAGATACATCTATATAGATATATAGATAC ATCTAT	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		1961		chr13	TogoVar
RNF17_chr13_24759169_24884921	24881903	G G	GATATATA others(33): Show GATATATAGATACCTCTATATAGATATATAGATACATCTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp1 NA18959.hp2 NA19091.hp1 HG02040.hp1 NA18959.hp2 NA19091.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0109 a0004c0004t0002g0112 a0004c0004t0002g0161 a0004c0004t0002g0109 a0004c0004t0002g0112 a0004c0004t0002g0161	3	426	0.0070	40	c.21 others(51): Show c.2177_*2178insATATATAGATACCTCTATATAGATATATAGATAC ATCTAT	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		1983		chr13	TogoVar
RNF17_chr13_24759169_24884921	24882049	G G	GATATATA others(33): Show GATATATAGATACATCTATATAGATATATAGATACATCTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0092 a0001c0008t0001g0092	1	426	0.0024	40	c.23 others(51): Show c.2323_*2324insATATATAGATACATCTATATAGATATATAGATAC ATCTAT	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2129		chr13	TogoVar
RNF17_chr13_24759169_24884921	24882089	T T	TATAGATA others(33): Show TATAGATACATCTATATAGATATATAGATACATCTATGTAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0393 a0002c0003t0001g0393	1	426	0.0024	40	c.23 others(51): Show c.2363_*2364insATAGATACATCTATATAGATATATAGATACATCT ATGTAG	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2169		chr13	TogoVar
RNF17_chr13_24759169_24884921	24882089	T T	TATAGATA others(33): Show TATAGATATATAGATACATCTATATAGATACATCTATATAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01109.hp1 others(7): Show HG01070.hp2 HG01071.hp2 HG01109.hp1 HG01361.hp1 HG02280.hp1 HG02602.hp1 HG02683.hp2 HG02738.hp2 HG03490.hp2 HG03710.hp2	a0002 a0006 a0002 a0006	a0002c0003 a0006c0009 a0002c0003 a0006c0009	a0002c0003t0001 a0006c0009t0002 a0002c0003t0001 a0006c0009t0002	a0002c0003t0001g0330 a0002c0003t0001g0361 a0002c0003t0001g0362 others(7): Show a0002c0003t0001g0330 a0002c0003t0001g0361 a0002c0003t0001g0362 a0002c0003t0001g0366 a0002c0003t0001g0367 a0002c0003t0001g0368 a0002c0003t0001g0372 a0002c0003t0001g0390 a0006c0009t0002g0313 a0006c0009t0002g0316	10	426	0.0235	40	c.23 others(51): Show c.2363_*2364insATAGATATATAGATACATCTATATAGATACATCT ATATAG	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2169		chr13	TogoVar
RNF17_chr13_24759169_24884921	24882133	G G	GATACATC others(33): Show GATACATCTATATAGATATATAGATACATCTATGTAGATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18960.hp2 NA18967.hp1 NA18979.hp2 others(4): Show NA18960.hp2 NA18967.hp1 NA18979.hp2 NA18984.hp2 NA18986.hp1 NA19000.hp1 NA19055.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0329 a0002c0003t0001g0339 a0002c0003t0001g0355 others(4): Show a0002c0003t0001g0329 a0002c0003t0001g0339 a0002c0003t0001g0355 a0002c0003t0001g0356 a0002c0003t0001g0357 a0002c0003t0001g0358 a0002c0003t0001g0359	7	426	0.0164	40	c.24 others(51): Show c.2407_*2408insATACATCTATATAGATATATAGATACATCTATGT AGATAT	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2213		chr13	TogoVar
RNF17_chr13_24759169_24884921	24882133	G G	GATATATA others(33): Show GATATATAGATACATCTATATATATAGATACATCTATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG01123.hp1 others(12): Show HG00280.hp1 HG00408.hp2 HG01123.hp1 HG02027.hp2 HG02698.hp2 HG03017.hp2 HG03688.hp2 HG03704.hp2 NA18946.hp1 NA18948.hp1 NA18974.hp2 NA18990.hp1 NA18998.hp1 NA18999.hp1 NA19086.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 others(12): Show a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0052 a0001c0002t0001g0056 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0066 a0001c0002t0001g0073 a0001c0002t0001g0079 a0001c0002t0001g0082 a0001c0002t0001g0104 a0001c0002t0001g0108 a0001c0002t0001g0258	15	426	0.0352	40	c.24 others(51): Show c.2407_*2408insATATATAGATACATCTATATATATAGATACATCT ATATAT	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2213		chr13	TogoVar
RNF17_chr13_24759169_24884921	24882169	G G	GATATATA others(33): Show GATATATAGATACATCTATATAGATACATCTATATAGATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0321 a0001c0002t0001g0321	1	426	0.0024	40	c.24 others(51): Show c.2443_*2444insATATATAGATACATCTATATAGATACATCTATAT AGATAT	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2249		chr13	TogoVar
RNF17_chr13_24759169_24884921	24882233	G G	GATATATA others(33): Show GATATATAGATACATCTATATAGATATATAGATACATCTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp1 HG02615.hp2 HG03927.hp2 HG01934.hp1 HG02615.hp2 HG03927.hp2	a0002 a0003 a0002 a0003	a0002c0003 a0003c0006 a0002c0003 a0003c0006	a0002c0003t0001 a0003c0006t0001 a0002c0003t0001 a0003c0006t0001	a0002c0003t0001g0342 a0003c0006t0001g0091 a0003c0006t0001g0173 a0002c0003t0001g0342 a0003c0006t0001g0091 a0003c0006t0001g0173	3	426	0.0070	40	c.25 others(51): Show c.2507_*2508insATATATAGATACATCTATATAGATATATAGATAC ATCTAT	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2313		chr13	TogoVar
RNF212B_chr14_23232936_23278477	23272120	A A	ATTTTTTG others(33): Show ATTTTTTGAAAATGTGGGCCAGGCGTGGTGGCTCATGCCTG	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0240	1	368	0.0027	40	c.835 others(55): Show c.835-701_835-662dupTTTTTGAAAATGTGGGCCAGGCGTGGTGGC TCATGCCTGT	RNF212B	ENSG00000215277.9	transcript	ENST00000430154.7	protein_coding	14/14		INFO_REALIGN_3_PRIME	chr14	TogoVar
RNF212B_chr14_23232936_23278477	23278351	T T	TGTGTGTG others(33): Show TGTGTGTGTGCATTTTTGTTTTTGTTTTTTCAAGAGACAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	368	0.0027	40	c.54 others(51): Show c.5460_*5461insGTGTGTGTGCATTTTTGTTTTTGTTTTTTCAAGA GACAGG	RNF212B	ENSG00000215277.9	transcript	ENST00000430154.7	protein_coding		4875		chr14	TogoVar
RNF213_chr17_80255852_80403794	80355460	A A	AAGCGGGG others(33): Show AAGCGGGGTGAATGGGAATGGGGGCTTACAGGGGAAGAAGT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0023 a0023	a0023c0088 a0023c0088	a0023c0088t0013 a0023c0088t0013	a0023c0088t0013g0165 a0023c0088t0013g0165	1	292	0.0034	40	c.108 others(59): Show c.10862+884_10862+885insAGCGGGGTGAATGGGAATGGGGGCTT ACAGGGGAAGAAGT	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	36/67			chr17	TogoVar
RNF214_chr11_117227671_117291454	117251251	C C	CCCCACCT others(33): Show CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGG	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG03041.hp2 HG01070.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0162 a0001c0001t0001g0019 a0001c0001t0001g0162	2	360	0.0056	40	c.959 others(57): Show c.959+4303_959+4304insCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCAGGGG	RNF214	ENSG00000167257.11	transcript	ENST00000300650.9	protein_coding	6/14			chr11	TogoVar
RNF216_chr7_5615047_5786663	5768346	T T	TACACACA others(33): Show TACACACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03540.hp2 NA20300.hp1 HG02280.hp2 HG03540.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0002 a0001c0001t0013 a0001c0008t0007 a0001c0001t0002 a0001c0001t0013 a0001c0008t0007	a0001c0001t0002g0265 a0001c0001t0013g0245 a0001c0008t0007g0241 a0001c0001t0002g0265 a0001c0001t0013g0245 a0001c0008t0007g0241	3	274	0.0110	40	c.-69 others(57): Show c.-69-7248_-69-7209dupGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGT	RNF216	ENSG00000011275.19	transcript	ENST00000389902.8	protein_coding	1/16			chr7	TogoVar

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Search Results (Total: 6641 hits)