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
RAB10_chr2_26029084_26142454	26139914	G G	GGCATCTG others(28): Show GGCATCTGATTGGTCTGGGAGCTCCAGATAGCCAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0047 a0001c0001t0003g0047	1	212	0.0047	35	c.48 others(46): Show c.4893_*4894insGCATCTGATTGGTCTGGGAGCTCCAGATAGCCAG C	RAB10	ENSG00000084733.11	transcript	ENST00000264710.5	protein_coding		2461		chr2	TogoVar
RAB11FIP3_chr16_420649_528011	504410	C C	CTGTACCA others(28): Show CTGTACCACCTCCTCCTGTACCCCCTCACCTCCTCT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0256 a0001c0001t0011g0256	1	295	0.0034	35	c.139 others(54): Show c.1396-1112_1396-1111insTACCACCTCCTCCTGTACCCCCTCAC CTCCTCTTG	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB22A_chr20_58304715_58372507	58338025	A A	ATTTTTTT others(28): Show ATTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0103 a0001c0001t0103	a0001c0001t0103g0207 a0001c0001t0103g0207	1	394	0.0025	35	c.117 others(52): Show c.117-5684_117-5683insTATTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	RAB22A	ENSG00000124209.4	transcript	ENST00000244040.4	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
RAB2B_chr14_21454020_21481959	21454162	A A	AAAAAGAA others(28): Show AAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0012 a0001c0001t0006g0012	1	412	0.0024	35	c.69 others(46): Show c.6999_*7033dupCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT T	RAB2B	ENSG00000129472.15	transcript	ENST00000397762.6	protein_coding		4857		chr14	TogoVar
RAB31_chr18_9703301_9867551	9815290	A A	ACTGTCCT others(28): Show ACTGTCCTCCATCCCTGAGTGTCATCCGTGTAGATG	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0265 a0001c0001t0001g0265	1	322	0.0031	35	c.380 others(50): Show c.380+128_380+162dupCCGTGTAGATGCTGTCCTCCATCCCTGAGT GTCAT	RAB31	ENSG00000168461.13	transcript	ENST00000578921.6	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
RAB31_chr18_9703301_9867551	9815325	G G	GCTGTCCT others(28): Show GCTGTCCTCCATCCCTGAGTGTCATCCGTGTAGATA	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	322	0.0031	35	c.380 others(50): Show c.380+137_380+138insACTGTCCTCCATCCCTGAGTGTCATCCGTG TAGAT	RAB31	ENSG00000168461.13	transcript	ENST00000578921.6	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
RAB31_chr18_9703301_9867551	9815880	T T	TAGATGCT others(28): Show TAGATGCTGTCCTCCATCCCTGAGTGTCATCCGTGG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01081.hp1 HG00738.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0256 a0001c0001t0001g0227 a0001c0001t0001g0256	2	322	0.0062	35	c.380 others(50): Show c.380+692_380+693insGAGATGCTGTCCTCCATCCCTGAGTGTCAT CCGTG	RAB31	ENSG00000168461.13	transcript	ENST00000578921.6	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
RAB35_chr12_120090099_120121753	120110290	A A	ATTTTTTT others(28): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA20300.hp2 NA18966.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0296 a0001c0001t0004g0297 a0001c0001t0004g0296 a0001c0001t0004g0297	2	414	0.0048	35	c.53- others(50): Show c.53-1824_53-1823insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	RAB35	ENSG00000111737.12	transcript	ENST00000229340.10	protein_coding	1/5			chr12	TogoVar
RAB3B_chr1_51902956_51995700	51903282	C C	CGTTCTTC others(28): Show CGTTCTTCCCCAACCTCCAGAAGCTCACTACTAGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0046 a0001c0001t0041g0046	1	62	0.0161	35	c.16 others(48): Show c.16644_*16645insCACTAGTAGTGAGCTTCTGGAGGTTGGGGAAG AAC	RAB3B	ENSG00000169213.7	transcript	ENST00000371655.4	protein_coding		4673		chr1	TogoVar
RAB3C_chr5_58578075_58864394	58597791	T T	TACGACAA others(28): Show TACGACAACATGTAATACATTATATATAAGTATACG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0132 a0001c0001t0045g0132	1	220	0.0046	35	c.24+ others(52): Show c.24+14560_24+14561insCGACAACATGTAATACATTATATATAAG TATACGA	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
RAB3C_chr5_58578075_58864394	58597791	T T	TACGATAA others(28): Show TACGATAACATATAATACATTATATATAAGTATACG	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03831.hp1 HG03017.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0002 a0001c0001t0008	a0001c0001t0002g0066 a0001c0001t0008g0065 a0001c0001t0002g0066 a0001c0001t0008g0065	2	220	0.0091	35	c.24+ others(52): Show c.24+14560_24+14561insCGATAACATATAATACATTATATATAAG TATACGA	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
RAB3C_chr5_58578075_58864394	58597791	T T	TACGATAA others(28): Show TACGATAACATGTAATACATTATATATAAGTATACG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01109.hp1 HG02451.hp1 others(5): Show HG00544.hp2 HG01109.hp1 HG02451.hp1 HG02486.hp2 NA18954.hp1 NA18959.hp2 NA18989.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0026 a0001c0001t0027 others(5): Show a0001c0001t0008 a0001c0001t0026 a0001c0001t0027 a0001c0001t0033 a0001c0001t0044 a0001c0001t0056 a0001c0001t0070 a0001c0001t0072	a0001c0001t0008g0155 a0001c0001t0026g0158 a0001c0001t0027g0149 others(5): Show a0001c0001t0008g0155 a0001c0001t0026g0158 a0001c0001t0027g0149 a0001c0001t0033g0008 a0001c0001t0044g0172 a0001c0001t0056g0063 a0001c0001t0070g0143 a0001c0001t0072g0041	8	220	0.0364	35	c.24+ others(52): Show c.24+14560_24+14561insCGATAACATGTAATACATTATATATAAG TATACGA	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
RAB3GAP1_chr2_135047292_135175710	135078657	C C	CCCCTCCC others(28): Show CCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTG	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	280	0.0036	35	c.151 others(54): Show c.151-12325_151-12291dupCCCTCCCCTCCCCTCCCCTGCCCTCC CCTCCCCTC	RAB3GAP1	ENSG00000115839.19	transcript	ENST00000264158.13	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
RAB3IL1_chr11_61892301_61922566	61909780	A A	ACAGGTCT others(28): Show ACAGGTCTCTGACCACGCTGTCTCCTTTAAAATTCT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	392	0.0026	35	c.12- others(50): Show c.12-1509_12-1475dupAGAATTTTAAAGGAGACAGCGTGGTCAGAG ACCTG	RAB3IL1	ENSG00000167994.13	transcript	ENST00000394836.7	protein_coding	1/9			chr11	TogoVar
RAB40B_chr17_82649973_82703698	82679773	A A	AGGCTAGG others(28): Show AGGCTAGGGACAGGGGCCAGCCTCCACCAAGCACAG	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	338	0.0030	35	c.143 others(54): Show c.143-15218_143-15217insCTGTGCTTGGTGGAGGCTGGCCCCTG TCCCTAGCC	RAB40B	ENSG00000141542.11	transcript	ENST00000571995.6	protein_coding	1/5			chr17	TogoVar
RAB40C_chr16_585066_634268	612194	G G	GGCCTGTA others(28): Show GGCCTGTAGAATCAAGAGCAAGGGACAGCCGCCTTT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0023 a0001c0004t0023	a0001c0004t0023g0041 a0001c0004t0023g0041	1	350	0.0029	35	c.143 others(52): Show c.143-4995_143-4994insAGGGACAGCCGCCTTTGCCTGTAGAATC AAGAGCA	RAB40C	ENSG00000197562.10	transcript	ENST00000248139.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB40C_chr16_585066_634268	620693	C C	CCCGACGG others(28): Show CCCGACGGGCTCCACCGCGGGCATCCCAGCCCCCCG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0320 a0001c0001t0007g0320	1	350	0.0029	35	c.264 others(52): Show c.264+2437_264+2438insCGGGCTCCACCGCGGGCATCCCAGCCCC CCGCCGA	RAB40C	ENSG00000197562.10	transcript	ENST00000248139.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB40C_chr16_585066_634268	620698	T T	TGGGCTCC others(28): Show TGGGCTCCACCGCGGGCATCCCAGCCCCCCGCCGAC	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0020 a0001c0001t0032g0020	1	350	0.0029	35	c.264 others(52): Show c.264+2534_264+2568dupCCCCGCCGACGGGCTCCACCGCGGGCAT CCCAGCC	RAB40C	ENSG00000197562.10	transcript	ENST00000248139.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB6A_chr11_73670638_73766074	73739278	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02895.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0109 a0001c0001t0006g0110 a0001c0001t0006g0109 a0001c0001t0006g0110	2	354	0.0057	35	c.71- others(50): Show c.71-8456_71-8455insATATATATATATATATATATATATATATAT ATATA	RAB6A	ENSG00000175582.20	transcript	ENST00000336083.8	protein_coding	1/7			chr11	TogoVar
RAB6A_chr11_73670638_73766074	73739282	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	354	0.0028	35	c.71- others(50): Show c.71-8460_71-8459insATATATATATATATATATATATATATATAT ATATA	RAB6A	ENSG00000175582.20	transcript	ENST00000336083.8	protein_coding	1/7			chr11	TogoVar
RAB6A_chr11_73670638_73766074	73739284	A A	AAAAATAT others(28): Show AAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	354	0.0028	35	c.71- others(50): Show c.71-8462_71-8461insATATATATATATATATATATATATATATAT ATTTT	RAB6A	ENSG00000175582.20	transcript	ENST00000336083.8	protein_coding	1/7			chr11	TogoVar
RAB6A_chr11_73670638_73766074	73739284	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA20129.hp2 NA19009.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0159 a0001c0001t0001g0150 a0001c0001t0001g0159	2	354	0.0057	35	c.71- others(50): Show c.71-8462_71-8461insATATATATATATATATATATATATATATAT ATATA	RAB6A	ENSG00000175582.20	transcript	ENST00000336083.8	protein_coding	1/7			chr11	TogoVar
RAB7A_chr3_128721183_128819798	128795751	C C	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01928.hp1 HG01975.hp1 others(1): Show HG00438.hp2 HG01928.hp1 HG01975.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0162 a0001c0001t0001g0164 others(1): Show a0001c0001t0001g0102 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0175	4	314	0.0127	35	c.53+ others(48): Show c.53+348_53+349insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	RAB7A	ENSG00000075785.14	transcript	ENST00000265062.8	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
RAB7A_chr3_128721183_128819798	128809936	C C	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	314	0.0032	35	c.528 others(52): Show c.528+2295_528+2296insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	RAB7A	ENSG00000075785.14	transcript	ENST00000265062.8	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
RABGAP1L_chr1_174154520_175000308	174833466	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0063 a0001c0001t0009g0063	1	272	0.0037	35	c.234 others(56): Show c.2340+21508_2340+21509insTATATATATATATATATATATATA TATATATATTA	RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	19/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
RABL2A_chr2_113622266_113648392	113643868	G G	GCCGTGGT others(28): Show GCCGTGGTTCAAATGACTTAATTAGGGTCATTCTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG01515.hp1 HG01516.hp1 others(26): Show HG00597.hp1 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG02071.hp2 HG02735.hp2 HG02965.hp1 HG03669.hp1 HG03710.hp2 NA18944.hp2 NA18946.hp1 NA18951.hp1 NA18963.hp1 NA18966.hp2 NA18969.hp1 NA18970.hp2 NA18978.hp2 NA18991.hp2 NA18993.hp1 NA18998.hp1 NA19000.hp2 NA19057.hp1 NA19066.hp1 NA19076.hp1 NA19078.hp2 NA19082.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0014 a0001c0001t0005 a0001c0001t0014	a0001c0001t0005g0008 a0001c0001t0005g0014 a0001c0001t0005g0015 others(7): Show a0001c0001t0005g0008 a0001c0001t0005g0014 a0001c0001t0005g0015 a0001c0001t0005g0020 a0001c0001t0005g0021 a0001c0001t0005g0029 a0001c0001t0005g0046 a0001c0001t0005g0047 a0001c0001t0005g0048 a0001c0001t0014g0014	29	436	0.0665	35	c.17 others(46): Show c.1739_*1740insCCGTGGTTCAAATGACTTAATTAGGGTCATTCTC A	RABL2A	ENSG00000144134.19	transcript	ENST00000683472.1	protein_coding		477		chr2	TogoVar
RABL2A_chr2_113622266_113648392	113647722	G G	GGATGACA others(28): Show GGATGACAGAATGAGACCCTGCCTCTAAATAAAATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0030 a0001c0001t0024g0030	1	436	0.0023	35	c.55 others(46): Show c.5593_*5594insGATGACAGAATGAGACCCTGCCTCTAAATAAAAT A	RABL2A	ENSG00000144134.19	transcript	ENST00000683472.1	protein_coding		4331		chr2	TogoVar
RAD51B_chr14_67814779_68483093	67818085	G G	GTTTTTTT others(28): Show GTTTTTTTTTTTTGTTTGTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0065 a0004c0004t0001g0065	1	84	0.0119	35	c.-17 others(46): Show c.-1771_-1770insTTTTTTTTTTTTGTTTGTTTTTTTTTTTTTTTTT T	RAD51B	ENSG00000182185.19	transcript	ENST00000471583.6	protein_coding		1693		chr14	TogoVar
RAD52_chr12_906736_954694	932820	C C	CGCACCGC others(28): Show CGCACCGCGTCAACGTACTAGGTACTGCCCCCGCAG	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0236 a0001c0001t0014g0236	1	400	0.0025	35	c.84+ others(48): Show c.84+154_84+155insCTGCGGGGGCAGTACCTAGTACGTTGACGCGG TGC	RAD52	ENSG00000002016.18	transcript	ENST00000358495.8	protein_coding	2/11			chr12	TogoVar
RAD52_chr12_906736_954694	932830	A A	AAACGTAC others(28): Show AAACGTACTAGGTACTGCCCCCGCACGCACCGCGTC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02896.hp1 HG06807.hp2 HG02055.hp1 HG02896.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0101 a0001c0001t0016g0102 a0001c0001t0016g0169 a0001c0001t0016g0101 a0001c0001t0016g0102 a0001c0001t0016g0169	3	400	0.0075	35	c.84+ others(48): Show c.84+144_84+145insGACGCGGTGCGTGCGGGGGCAGTACCTAGTAC GTT	RAD52	ENSG00000002016.18	transcript	ENST00000358495.8	protein_coding	2/11			chr12	TogoVar
RAD54L2_chr3_51533719_51673660	51626436	C C	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0065 a0001c0001t0065	a0001c0001t0065g0093 a0001c0001t0065g0093	1	276	0.0036	35	c.140 others(52): Show c.140-1091_140-1090insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	RAD54L2	ENSG00000164080.14	transcript	ENST00000684192.1	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
RAD9A_chr11_67386986_67403410	67388253	C C	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0006 a0001c0002t0001g0006	1	358	0.0028	35	c.-37 others(46): Show c.-3792_-3791insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	RAD9A	ENSG00000172613.8	transcript	ENST00000307980.7	protein_coding		3732		chr11	TogoVar
RADIL_chr7_4792055_4888716	4802441	G G	GGGTCCCC others(28): Show GGGTCCCCTCCCCGGGCACCTCGGGGCACGCTGGCT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01081.hp2 HG01361.hp1 others(1): Show HG01074.hp2 HG01081.hp2 HG01361.hp1 HG03491.hp1	a0014 a0028 a0014 a0028	a0014c0019 a0028c0055 a0014c0019 a0028c0055	a0014c0019t0019 a0014c0019t0026 a0028c0055t0026 a0014c0019t0019 a0014c0019t0026 a0028c0055t0026	a0014c0019t0019g0050 a0014c0019t0019g0052 a0014c0019t0026g0164 others(1): Show a0014c0019t0019g0050 a0014c0019t0019g0052 a0014c0019t0026g0164 a0028c0055t0026g0190	4	292	0.0137	35	c.250 others(52): Show c.2500-447_2500-446insAGCCAGCGTGCCCCGAGGTGCCCGGGGA GGGGACC	RADIL	ENSG00000157927.17	transcript	ENST00000399583.4	protein_coding	11/14			chr7	TogoVar
RADIL_chr7_4792055_4888716	4886300	A A	ATATATAT others(28): Show ATATATATATACACACATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0184 a0001c0006t0001g0184	1	292	0.0034	35	c.-27 others(46): Show c.-2770_-2769insATATATATATATATATATATGTGTGTATATATAT A	RADIL	ENSG00000157927.17	transcript	ENST00000399583.4	protein_coding		2585		chr7	TogoVar
RADIL_chr7_4792055_4888716	4886301	T T	TATATATA others(28): Show TATATATACACACACATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0050 a0007c0009t0050	a0007c0009t0050g0284 a0007c0009t0050g0284	1	292	0.0034	35	c.-27 others(46): Show c.-2771_-2770insTATATATATATATATATATATGTGTGTGTATATA T	RADIL	ENSG00000157927.17	transcript	ENST00000399583.4	protein_coding		2586		chr7	TogoVar
RADIL_chr7_4792055_4888716	4886301	T T	TATATATA others(28): Show TATATATATACACACATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00621.hp1 HG02132.hp2 others(6): Show HG00438.hp2 HG00621.hp1 HG02132.hp2 HG02145.hp1 HG03834.hp2 NA18952.hp1 NA18967.hp1 NA19067.hp2 NA19091.hp1	a0001 a0002 a0026 a0001 a0002 a0026	a0001c0001 a0001c0006 a0002c0002 others(2): Show a0001c0001 a0001c0006 a0002c0002 a0002c0008 a0026c0046	a0001c0001t0001 a0001c0001t0002 a0001c0006t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0006t0001 a0002c0002t0001 a0002c0008t0002 a0026c0046t0001	a0001c0001t0001g0228 a0001c0001t0001g0285 a0001c0001t0002g0069 others(6): Show a0001c0001t0001g0228 a0001c0001t0001g0285 a0001c0001t0002g0069 a0001c0006t0001g0169 a0001c0006t0001g0181 a0002c0002t0001g0265 a0002c0008t0002g0024 a0002c0008t0002g0026 a0026c0046t0001g0286	9	292	0.0308	35	c.-27 others(46): Show c.-2771_-2770insTATATATATATATATATATATGTGTGTATATATA T	RADIL	ENSG00000157927.17	transcript	ENST00000399583.4	protein_coding		2586		chr7	TogoVar
RALGAPA2_chr20_20384530_20717644	20458469	A A	ATATTATA others(28): Show ATATTATATATAATACATATGTATTTTATATATATT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02451.hp2 HG03486.hp1 HG01884.hp2 HG02451.hp2 HG03486.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0008 a0003c0005t0014 a0003c0005t0042 a0003c0005t0008 a0003c0005t0014 a0003c0005t0042	a0003c0005t0008g0090 a0003c0005t0014g0089 a0003c0005t0042g0091 a0003c0005t0008g0090 a0003c0005t0014g0089 a0003c0005t0042g0091	3	122	0.0246	35	c.549 others(56): Show c.5495+14359_5495+14360insAATATATATAAAATACATATGTAT TATATATAATA	RALGAPA2	ENSG00000188559.16	transcript	ENST00000202677.12	protein_coding	37/39			chr20	TogoVar
RALGAPA2_chr20_20384530_20717644	20642149	G G	GAGAGAAG others(28): Show GAGAGAAGGGGAGGGGAGGGGAGGGGAGGGGAGAGA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00558.hp1 HG00673.hp1 others(19): Show HG00408.hp1 HG00558.hp1 HG00673.hp1 HG02074.hp1 HG02080.hp1 HG02129.hp1 HG02135.hp2 HG02165.hp1 HG02300.hp1 NA18939.hp2 NA18942.hp2 NA18959.hp1 NA18963.hp2 NA18968.hp1 NA18988.hp1 NA18992.hp1 NA19056.hp2 NA19062.hp1 NA19074.hp2 NA19076.hp2 NA19091.hp2 NA20300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0006 a0002c0002t0008 others(5): Show a0002c0002t0004 a0002c0002t0006 a0002c0002t0008 a0002c0002t0009 a0002c0002t0038 a0002c0002t0040 a0002c0002t0041 a0002c0002t0043	a0002c0002t0004g0096 a0002c0002t0004g0098 a0002c0002t0004g0100 others(19): Show a0002c0002t0004g0096 a0002c0002t0004g0098 a0002c0002t0004g0100 a0002c0002t0004g0102 a0002c0002t0004g0111 a0002c0002t0004g0113 a0002c0002t0006g0108 a0002c0002t0006g0109 a0002c0002t0006g0112 a0002c0002t0006g0114 a0002c0002t0008g0097 a0002c0002t0008g0099 a0002c0002t0008g0101 a0002c0002t0008g0103 a0002c0002t0009g0093 a0002c0002t0009g0094 a0002c0002t0009g0095 a0002c0002t0009g0110 a0002c0002t0038g0107 a0002c0002t0040g0106 a0002c0002t0041g0104 a0002c0002t0043g0116	22	122	0.1803	35	c.373 others(52): Show c.373-1272_373-1271insTCTCTCCCCTCCCCTCCCCTCCCCTCCC CTTCTCT	RALGAPA2	ENSG00000188559.16	transcript	ENST00000202677.12	protein_coding	5/39			chr20	TogoVar
RALGPS1_chr9_126909782_127228166	127188832	T T	TTAAAAAA others(28): Show TTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02300.hp1 NA18993.hp2 NA19070.hp2 HG02300.hp1 NA18993.hp2 NA19070.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0004 a0001c0001t0001 a0002c0002t0004	a0001c0001t0001g0232 a0001c0001t0001g0247 a0002c0002t0004g0264 a0001c0001t0001g0232 a0001c0001t0001g0247 a0002c0002t0004g0264	3	276	0.0109	35	c.911 others(52): Show c.911-6259_911-6258insTAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	RALGPS1	ENSG00000136828.19	transcript	ENST00000259351.10	protein_coding	11/18			chr9	TogoVar
RALYL_chr8_84178274_84926844	84486350	T T	TTTAAAAT others(28): Show TTTAAAATTATTAAAATTAAAAATTATTAAAAATAA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0029 a0001c0001t0002g0029	1	82	0.0122	35	c.-23 others(54): Show c.-23-42939_-23-42938insTAAAATTAAAAATTATTAAAAATAAT TAAAATTAT	RALYL	ENSG00000184672.12	transcript	ENST00000521268.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RANBP3_chr19_5911139_5983140	5937056	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	322	0.0031	35	c.407 others(52): Show c.407-3578_407-3577insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	RANBP3	ENSG00000031823.14	transcript	ENST00000340578.10	protein_coding	5/16			chr19	TogoVar
RAP1GAP2_chr17_2791438_3042741	2820891	G G	GTTTTTTT others(28): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0101 a0001c0009t0101	a0001c0009t0101g0014 a0001c0009t0101g0014	1	218	0.0046	35	c.80+ others(52): Show c.80+20341_80+20342insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	2/24			chr17	TogoVar
RAPGEF4_chr2_172730845_173057893	172897732	C C	CTATTTTA others(28): Show CTATTTTATTTTATTTTATTTTATTTTATTTTATTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 NA19030.hp1 HG01884.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0002 a0001c0008t0001 a0001c0001t0002 a0001c0008t0001	a0001c0001t0002g0039 a0001c0008t0001g0174 a0001c0001t0002g0039 a0001c0008t0001g0174	2	178	0.0112	35	c.445 others(54): Show c.445-20069_445-20035dupTATTTTATTTTATTTTATTTTATTTT ATTTTATTT	RAPGEF4	ENSG00000091428.18	transcript	ENST00000397081.8	protein_coding	4/30		INFO_REALIGN_3_PRIME	chr2	TogoVar
RAPGEF6_chr5_131418921_131640229	131563116	G G	GAAATATA others(28): Show GAAATATACAGAGCTCACTCAAAATAATGATAAAGC	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0299 a0002c0002t0001g0299	1	324	0.0031	35	c.282 others(52): Show c.282-1104_282-1070dupGCTTTATCATTATTTTGAGTGAGCTCTG TATATTT	RAPGEF6	ENSG00000158987.22	transcript	ENST00000509018.6	protein_coding	4/27			chr5	TogoVar
RARS1_chr5_168481471_168524301	168518071	C C	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0354 a0001c0001t0001g0354	1	394	0.0025	35	c.187 others(50): Show c.1873+33_1873+34insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	RARS1	ENSG00000113643.9	transcript	ENST00000231572.8	protein_coding	14/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
RASA1_chr5_87262883_87396916	87286946	T T	TATATATA others(28): Show TATATATACATACCATATATACACCATATATATACC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	282	0.0036	35	c.539 others(54): Show c.539+17966_539+18000dupTACCATATATACACCATATATATACC ATATATACA	RASA1	ENSG00000145715.15	transcript	ENST00000274376.11	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
RASA1_chr5_87262883_87396916	87338533	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0013 a0001c0001t0002g0013	1	282	0.0036	35	c.101 others(52): Show c.1017+442_1017+443insTATATATATATATATATATATATATATA TATATAT	RASA1	ENSG00000145715.15	transcript	ENST00000274376.11	protein_coding	5/24			chr5	TogoVar
RASA1_chr5_87262883_87396916	87338535	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0133 a0001c0001t0003g0133	1	282	0.0036	35	c.101 others(52): Show c.1017+444_1017+445insTATATATATATATATATATATATATATA TATATTT	RASA1	ENSG00000145715.15	transcript	ENST00000274376.11	protein_coding	5/24			chr5	TogoVar
RASA3_chr13_113972783_114137623	114120431	C C	CCCCTCCC others(28): Show CCCCTCCCCTCTCCAGCCAGGCGTCGATCAGGGCCT	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02300.hp2 NA18971.hp2 others(1): Show HG01981.hp1 HG02300.hp2 NA18971.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0007 a0001c0002t0002 a0001c0001t0001 a0001c0001t0007 a0001c0002t0002	a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0007g0034 others(1): Show a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0007g0034 a0001c0002t0002g0036	4	67	0.0597	35	c.55+ others(52): Show c.55+12003_55+12004insAGGCCCTGATCGACGCCTGGCTGGAGAG GGGAGGG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114120498	G G	GCCCCTCC others(28): Show GCCCCTCCCTCTCTCCAGCCAGGCGTCGATCAGGGC	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	67	0.0149	35	c.55+ others(52): Show c.55+11936_55+11937insGCCCTGATCGACGCCTGGCTGGAGAGAG GGAGGGG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar

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Search Results (Total: 4618 hits)