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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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
RAB37_chr17_74732256_74752335	74735006	A A	AAAGGAAG others(25): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0035 a0001c0001t0017g0035	1	432	0.0023	32	c.-22 others(43): Show c.-2267_-2266insAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	RAB37	ENSG00000172794.20	transcript	ENST00000392613.10	protein_coding		2249		chr17	TogoVar
RAB37_chr17_74732256_74752335	74735018	G G	GAAGGAAG others(25): Show GAAGGAAGAAAGAAAGAAAGAAAGAAAGAAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0070 a0001c0001t0027g0070	1	432	0.0023	32	c.-22 others(43): Show c.-2255_-2254insAAGGAAGAAAGAAAGAAAGAAAGAAAGAAAGA	RAB37	ENSG00000172794.20	transcript	ENST00000392613.10	protein_coding		2237		chr17	TogoVar
RAB37_chr17_74732256_74752335	74735018	G G	GAAGGAAG others(25): Show GAAGGAAGGAAGGAAGGAAGGAAGAAAGAAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	432	0.0023	32	c.-22 others(43): Show c.-2255_-2254insAAGGAAGGAAGGAAGGAAGGAAGAAAGAAAGA	RAB37	ENSG00000172794.20	transcript	ENST00000392613.10	protein_coding		2237		chr17	TogoVar
RAB37_chr17_74732256_74752335	74735018	G G	GAAGGAAG others(25): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGAAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp1 NA18995.hp1 NA19068.hp1 others(1): Show HG02165.hp1 NA18995.hp1 NA19068.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0001 a0001c0001t0004 a0001c0001t0005	a0001c0001t0001g0002 a0001c0001t0001g0034 a0001c0001t0004g0002 others(1): Show a0001c0001t0001g0002 a0001c0001t0001g0034 a0001c0001t0004g0002 a0001c0001t0005g0002	4	432	0.0093	32	c.-22 others(43): Show c.-2255_-2254insAAGGAAGGAAGGAAGGAAGGAAGGAAGAAAGA	RAB37	ENSG00000172794.20	transcript	ENST00000392613.10	protein_coding		2237		chr17	TogoVar
RAB37_chr17_74732256_74752335	74735018	G G	GAAGGAAG others(25): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	432	0.0023	32	c.-22 others(43): Show c.-2255_-2254insAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGA	RAB37	ENSG00000172794.20	transcript	ENST00000392613.10	protein_coding		2237		chr17	TogoVar
RAB3A_chr19_18191784_18209042	18201259	A A	AAAAGAAA others(25): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0064 a0001c0001t0027g0064	1	370	0.0027	32	c.229 others(47): Show c.229-815_229-814insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TT	RAB3A	ENSG00000105649.10	transcript	ENST00000222256.9	protein_coding	2/4			chr19	TogoVar
RAB3C_chr5_58578075_58864394	58597461	A A	ACATTATA others(25): Show ACATTATATATAAGCATATAACAATACATAGTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0192 a0001c0001t0023g0192	1	220	0.0046	32	c.24+ others(49): Show c.24+14254_24+14255insCATAGTTCATTATATATAAGCATATAAC AATA	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
RAB3C_chr5_58578075_58864394	58597499	T T	TATATAAG others(25): Show TATATAAGCATATAACAATATATAGTTCATTAC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0113 a0001c0001t0010g0113	1	220	0.0046	32	c.24+ others(49): Show c.24+14298_24+14299insCATATAAGCATATAACAATATATAGTTC ATTA	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
RAB3C_chr5_58578075_58864394	58597589	T T	TCATTATA others(25): Show TCATTATATATAAGCATATAACAATATATAGTA	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0009 a0001c0001t0016g0009	1	220	0.0046	32	c.24+ others(49): Show c.24+14388_24+14389insACATTATATATAAGCATATAACAATATA TAGT	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
RAB3C_chr5_58578075_58864394	58597627	T T	TATATAAG others(25): Show TATATAAGCATATAACAATATATAGTTCATTAC	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0188 a0001c0001t0004g0188	1	220	0.0046	32	c.24+ others(49): Show c.24+14420_24+14421insTCATTACATATAAGCATATAACAATATA TAGT	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
RAB3C_chr5_58578075_58864394	58597645	T T	TATATAGT others(25): Show TATATAGTACATTATATATAAGTATATAATATA	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0019 a0001c0001t0009g0019	1	220	0.0046	32	c.24+ others(49): Show c.24+14474_24+14505dupTATAATATAGTACATTATATATAAGTAT ATAA	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
RAB3C_chr5_58578075_58864394	58597791	T T	TATAACAT others(25): Show TATAACATGTAATACATTATATATAAGTATACG	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02735.hp1 HG01175.hp2 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0036 a0001c0001t0003g0033 a0001c0001t0002g0036 a0001c0001t0003g0033	2	220	0.0091	32	c.24+ others(49): Show c.24+14974_24+15005dupCGATAACATGTAATACATTATATATAAG TATA	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
RAB3C_chr5_58578075_58864394	58597791	T T	TATAATAT others(25): Show TATAATATATAATACATTATATATAAGTATATG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00408.hp1 others(17): Show HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00735.hp1 HG01071.hp2 HG01106.hp2 HG01123.hp2 HG01192.hp1 HG01516.hp1 HG01884.hp1 HG02027.hp1 HG02074.hp1 HG02109.hp2 HG03209.hp1 HG03669.hp1 NA18968.hp2 NA18999.hp2 NA19011.hp1 NA19058.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(11): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0012 a0001c0001t0018 a0001c0001t0023 a0001c0001t0030 a0001c0001t0031 a0001c0001t0039 a0001c0001t0055 a0001c0001t0057 a0001c0001t0069 a0001c0001t0077	a0001c0001t0001g0190 a0001c0001t0001g0198 a0001c0001t0001g0199 others(17): Show a0001c0001t0001g0190 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0003g0191 a0001c0001t0003g0204 a0001c0001t0004g0205 a0001c0001t0005g0189 a0001c0001t0012g0014 a0001c0001t0012g0203 a0001c0001t0018g0196 a0001c0001t0018g0208 a0001c0001t0023g0192 a0001c0001t0030g0213 a0001c0001t0031g0193 a0001c0001t0039g0202 a0001c0001t0055g0194 a0001c0001t0057g0195 a0001c0001t0069g0197 a0001c0001t0077g0215	20	220	0.0909	32	c.24+ others(49): Show c.24+14563_24+14564insTATATAATACATTATATATAAGTATATG ATAA	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
RAB3C_chr5_58578075_58864394	58598101	A A	ATAAGTAT others(25): Show ATAAGTATATGATAACATGTAATACATTATATG	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0187 a0001c0001t0004g0187	1	220	0.0046	32	c.24+ others(49): Show c.24+14877_24+14878insTGATAACATGTAATACATTATATGTAAG TATA	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
RAB3C_chr5_58578075_58864394	58598238	T T	TGATAACA others(25): Show TGATAACATGTAATACATTATATGTAAGTATAC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0128 a0001c0001t0051g0128	1	220	0.0046	32	c.24+ others(49): Show c.24+15011_24+15012insCATGTAATACATTATATGTAAGTATACG ATAA	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
RAB3C_chr5_58578075_58864394	58693336	G G	GTATGTGT others(25): Show GTATGTGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0172 a0001c0001t0044g0172	1	220	0.0046	32	c.253 others(51): Show c.253-32663_253-32662insGTGTATATATATATATATATATATAT ATATAT	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
RAB3C_chr5_58578075_58864394	58845612	A A	ATATATAT others(25): Show ATATATATATATATATATATATATGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0218 a0001c0001t0032g0218	1	220	0.0046	32	c.497 others(49): Show c.497-5551_497-5550insATATATATATATATATATATATGTGTGT GTGT	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
RAB3C_chr5_58578075_58864394	58845612	A A	ATATATAT others(25): Show ATATATATATATATATATATATGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01109.hp1 HG01516.hp1 others(1): Show HG01081.hp1 HG01109.hp1 HG01516.hp1 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0033 a0001c0001t0002 a0001c0001t0004 a0001c0001t0033	a0001c0001t0002g0109 a0001c0001t0004g0095 a0001c0001t0004g0205 others(1): Show a0001c0001t0002g0109 a0001c0001t0004g0095 a0001c0001t0004g0205 a0001c0001t0033g0008	4	220	0.0182	32	c.497 others(49): Show c.497-5551_497-5550insATATATATATATATATATATGTGTGTGT GTGT	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
RAB3C_chr5_58578075_58864394	58845612	A A	ATATATAT others(25): Show ATATATATATATATATATGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01123.hp2 NA20129.hp1 HG01106.hp2 HG01123.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0018 a0001c0001t0039 a0001c0001t0004 a0001c0001t0018 a0001c0001t0039	a0001c0001t0004g0119 a0001c0001t0018g0196 a0001c0001t0039g0202 a0001c0001t0004g0119 a0001c0001t0018g0196 a0001c0001t0039g0202	3	220	0.0136	32	c.497 others(49): Show c.497-5551_497-5550insATATATATATATATATGTGTGTGTGTGT GTGT	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
RAB40C_chr16_585066_634268	588035	A A	AGGTGATC others(25): Show AGGTGATCCACCCACCTCAGCCTCCCAAAGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0321 a0001c0001t0016g0321	1	350	0.0029	32	c.-22 others(43): Show c.-2257_-2256insGGTGATCCACCCACCTCAGCCTCCCAAAGTGC	RAB40C	ENSG00000197562.10	transcript	ENST00000248139.8	protein_coding		2030		chr16	TogoVar
RAB40C_chr16_585066_634268	601815	T T	TAAAAAAA others(25): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0325 a0001c0001t0002g0325	1	350	0.0029	32	c.142 others(51): Show c.142+11412_142+11413insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	RAB40C	ENSG00000197562.10	transcript	ENST00000248139.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB44_chr6_36692826_36738184	36715102	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02976.hp2 HG02559.hp2 HG02976.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0004 a0003c0006t0004	a0003c0006t0004g0014 a0003c0006t0004g0014	2	428	0.0047	32	c.320 others(47): Show c.320-361_320-360insATATATATATATATATATATATATATATAT AT	RAB44	ENSG00000255587.9	transcript	ENST00000612677.6	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
RAB5B_chr12_55969078_56001683	55996003	A A	ATATATAT others(25): Show ATATATATATATTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0089 a0001c0001t0089	a0001c0001t0089g0019 a0001c0001t0089g0019	1	382	0.0026	32	c.37 others(43): Show c.3792_*3793insATATATATATTTTTTTTTTTTTTTTTTTTTTT	RAB5B	ENSG00000111540.16	transcript	ENST00000360299.10	protein_coding	6/6	3793	INFO_REALIGN_3_PRIME	chr12	TogoVar
RAB5C_chr17_42119979_42159989	42158798	G G	GCTCACTA others(25): Show GCTCACTACAAGCTCCGCCTCCTGGGTTCATGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0014 a0001c0002t0001g0014	1	306	0.0033	32	c.-39 others(43): Show c.-3995_-3994insGCATGAACCCAGGAGGCGGAGCTTGTAGTGAG	RAB5C	ENSG00000108774.15	transcript	ENST00000346213.9	protein_coding		3810		chr17	TogoVar
RAB5IF_chr20_36600779_36617557	36609156	T T	TACACACA others(25): Show TACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01167.hp1 HG01981.hp1 others(3): Show HG00140.hp1 HG01167.hp1 HG01981.hp1 HG02559.hp2 NA18950.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0244 a0001c0001t0001g0251 a0001c0001t0001g0308 others(3): Show a0001c0001t0001g0244 a0001c0001t0001g0251 a0001c0001t0001g0308 a0001c0001t0002g0025 a0001c0001t0002g0122 a0001c0001t0003g0025	6	398	0.0151	32	c.219 others(47): Show c.219-438_219-407dupACACACACACACACACACACACACACACAC AC	RAB5IF	ENSG00000101084.19	transcript	ENST00000344795.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
RAB5IF_chr20_36600779_36617557	36609156	T T	TACATACA others(25): Show TACATACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	398	0.0025	32	c.219 others(47): Show c.219-442_219-441insTACACACACACACACACACACACACACACA CA	RAB5IF	ENSG00000101084.19	transcript	ENST00000344795.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
RAB5IF_chr20_36600779_36617557	36609156	T T	TACATACA others(25): Show TACATACATACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG06807.hp1 HG01106.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0167 a0001c0001t0001g0168	2	398	0.0050	32	c.219 others(47): Show c.219-442_219-441insTACATACACACACACACACACACACACACA CA	RAB5IF	ENSG00000101084.19	transcript	ENST00000344795.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
RAB5IF_chr20_36600779_36617557	36609156	T T	TACATACA others(25): Show TACATACATACATACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG02738.hp2 HG01070.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0233 a0001c0001t0001g0099 a0001c0001t0001g0233	2	398	0.0050	32	c.219 others(47): Show c.219-442_219-441insTACATACATACACACACACACACACACACA CA	RAB5IF	ENSG00000101084.19	transcript	ENST00000344795.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
RAB5IF_chr20_36600779_36617557	36609156	T T	TACATACA others(25): Show TACATACATACATATACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00609.hp1 HG01517.hp1 others(11): Show HG00280.hp2 HG00609.hp1 HG01517.hp1 HG02071.hp2 HG02135.hp1 HG02451.hp1 HG02897.hp2 HG03486.hp2 HG03516.hp2 HG04228.hp1 NA18612.hp2 NA18995.hp2 NA19003.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 a0001c0001t0001 a0001c0001t0005 a0001c0001t0008	a0001c0001t0001g0015 a0001c0001t0001g0023 a0001c0001t0001g0059 others(9): Show a0001c0001t0001g0015 a0001c0001t0001g0023 a0001c0001t0001g0059 a0001c0001t0001g0080 a0001c0001t0001g0115 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0236 a0001c0001t0001g0289 a0001c0001t0005g0065 a0001c0001t0008g0015	14	398	0.0352	32	c.219 others(47): Show c.219-442_219-441insTACATACATATACACACACACACACACACA CA	RAB5IF	ENSG00000101084.19	transcript	ENST00000344795.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
RAB6A_chr11_73670638_73766074	73685588	G G	GAAAGTCT others(25): Show GAAAGTCTTTTTTTTTTTTTTTTTTTTTTTTTA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02486.hp2 HG02572.hp1 others(6): Show HG01884.hp1 HG02486.hp2 HG02572.hp1 HG02622.hp2 HG02818.hp1 HG03130.hp2 HG03209.hp2 HG03453.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0024 a0001c0001t0007 a0001c0001t0024	a0001c0001t0007g0240 a0001c0001t0007g0242 a0001c0001t0007g0243 others(6): Show a0001c0001t0007g0240 a0001c0001t0007g0242 a0001c0001t0007g0243 a0001c0001t0007g0244 a0001c0001t0007g0245 a0001c0001t0007g0253 a0001c0001t0007g0254 a0001c0001t0007g0255 a0001c0001t0024g0257	9	354	0.0254	32	c.496 others(49): Show c.496-5869_496-5868insTAAAAAAAAAAAAAAAAAAAAAAAAAGA CTTT	RAB6A	ENSG00000175582.20	transcript	ENST00000336083.8	protein_coding	6/7			chr11	TogoVar
RAB6A_chr11_73670638_73766074	73685588	G G	GAAAGTCT others(25): Show GAAAGTCTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01074.hp2 HG01123.hp2 others(11): Show HG00423.hp2 HG01074.hp2 HG01123.hp2 HG02258.hp2 HG03942.hp2 NA18522.hp1 NA18972.hp2 NA18978.hp2 NA18982.hp2 NA18993.hp1 NA19000.hp1 NA19060.hp1 NA19067.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0014	a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0145 others(11): Show a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0145 a0001c0001t0001g0178 a0001c0001t0001g0204 a0001c0001t0001g0210 a0001c0001t0002g0267 a0001c0001t0002g0286 a0001c0001t0006g0117 a0001c0001t0008g0119 a0001c0001t0008g0128 a0001c0001t0010g0232 a0001c0001t0010g0233 a0001c0001t0014g0002	14	354	0.0396	32	c.496 others(49): Show c.496-5869_496-5868insAAAAAAAAAAAAAAAAAAAAAAAAAAGA CTTT	RAB6A	ENSG00000175582.20	transcript	ENST00000336083.8	protein_coding	6/7			chr11	TogoVar
RAB6A_chr11_73670638_73766074	73722305	G G	GTATGTGT others(25): Show GTATGTGTGTGTGTGTATGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0006 a0001c0001t0009g0006	1	354	0.0028	32	c.130 others(49): Show c.130-1407_130-1406insTATATATATATATACATACACACACACA CATA	RAB6A	ENSG00000175582.20	transcript	ENST00000336083.8	protein_coding	2/7			chr11	TogoVar
RAB6A_chr11_73670638_73766074	73739284	A A	AAAAAAAA others(25): Show AAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0220	1	354	0.0028	32	c.71- others(47): Show c.71-8462_71-8461insATATATATATATATATATATATATTTTTTT TT	RAB6A	ENSG00000175582.20	transcript	ENST00000336083.8	protein_coding	1/7			chr11	TogoVar
RAB6A_chr11_73670638_73766074	73739284	A A	AAAATATA others(25): Show AAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	354	0.0028	32	c.71- others(47): Show c.71-8462_71-8461insATATATATATATATATATATATATATATAT TT	RAB6A	ENSG00000175582.20	transcript	ENST00000336083.8	protein_coding	1/7			chr11	TogoVar
RAB6A_chr11_73670638_73766074	73739304	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02258.hp2 HG02647.hp1 others(3): Show HG02148.hp1 HG02258.hp2 HG02647.hp1 NA18974.hp1 NA19010.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 a0001c0001t0001 a0001c0001t0006 a0001c0001t0008	a0001c0001t0001g0121 a0001c0001t0001g0131 a0001c0001t0001g0183 others(3): Show a0001c0001t0001g0121 a0001c0001t0001g0131 a0001c0001t0001g0183 a0001c0001t0006g0117 a0001c0001t0006g0185 a0001c0001t0008g0119	6	354	0.0170	32	c.71- others(47): Show c.71-8482_71-8481insTTATATATATATATATATATATATATATAT AT	RAB6A	ENSG00000175582.20	transcript	ENST00000336083.8	protein_coding	1/7			chr11	TogoVar
RAB7A_chr3_128721183_128819798	128763208	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03225.hp2 HG01109.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0303 a0001c0001t0001g0304	2	314	0.0064	32	c.-8- others(49): Show c.-8-32151_-8-32150insATATATATATATATATATATATATATTT TTTT	RAB7A	ENSG00000075785.14	transcript	ENST00000265062.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
RAB7A_chr3_128721183_128819798	128809936	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0294 a0001c0001t0001g0294	1	314	0.0032	32	c.528 others(49): Show c.528+2295_528+2296insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	RAB7A	ENSG00000075785.14	transcript	ENST00000265062.8	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
RABEP1_chr17_5277284_5391340	5323799	A A	AATATATA others(25): Show AATATATATATATATATATATCTAGGAATATAT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0243 a0001c0004t0002g0243	1	352	0.0028	32	c.164 others(49): Show c.164-8136_164-8135insATATATCTAGGAATATATATATATATAT ATAT	RABEP1	ENSG00000029725.17	transcript	ENST00000537505.6	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
RABGAP1L_chr1_174154520_175000308	174327972	T T	TACATATA others(25): Show TACATATATATATATATATATATATATACATAC	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0146 a0001c0001t0005g0146	1	272	0.0037	32	c.146 others(53): Show c.1465+22846_1465+22847insCATATATATATATATATATATATA TACATACA	RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	11/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
RABGAP1L_chr1_174154520_175000308	174327990	T T	TATATATA others(25): Show TATATATACATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0221 a0001c0001t0010g0221	1	272	0.0037	32	c.146 others(53): Show c.1465+22870_1465+22871insCATATATATATATATATATATACA CATATATA	RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	11/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
RABGAP1L_chr1_174154520_175000308	174327994	T T	TATATATA others(25): Show TATATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0193 a0001c0002t0003g0193	1	272	0.0037	32	c.146 others(53): Show c.1465+22894_1465+22895insCACACATATATATATATATATATA TATATATA	RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	11/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
RABGAP1L_chr1_174154520_175000308	174416035	T T	TATATATA others(25): Show TATATATATATATATATATATATACACATATAC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01516.hp1 HG03490.hp2 others(2): Show HG01106.hp1 HG01516.hp1 HG03490.hp2 HG03492.hp2 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0098 a0001c0001t0002g0111 a0001c0001t0002g0112 others(2): Show a0001c0001t0002g0098 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0125	5	272	0.0184	32	c.171 others(53): Show c.1710+21891_1710+21892insTATATATATATATATATATATACA CATATACA	RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	13/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
RABGAP1L_chr1_174154520_175000308	174550991	T T	TATACATA others(25): Show TATACATATGTATATATACATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01243.hp1 HG02922.hp2 others(1): Show HG01069.hp1 HG01243.hp1 HG02922.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0014 a0001c0001t0002 a0001c0001t0014	a0001c0001t0002g0137 a0001c0001t0014g0154 a0001c0001t0014g0155 others(1): Show a0001c0001t0002g0137 a0001c0001t0014g0154 a0001c0001t0014g0155 a0001c0001t0014g0156	4	272	0.0147	32	c.171 others(53): Show c.1711-86381_1711-86380insCATATGTATATATACATATATATA TATACATA	RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	13/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
RABGAP1L_chr1_174154520_175000308	174783707	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01516.hp2 HG01074.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0130 a0001c0001t0008g0269 a0001c0001t0008g0130 a0001c0001t0008g0269	2	272	0.0074	32	c.221 others(53): Show c.2212-28105_2212-28104insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	18/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
RABGAP1L_chr1_174154520_175000308	174833449	G G	GATATATA others(25): Show GATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02293.hp1 HG01934.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0106 a0001c0001t0002g0107	2	272	0.0074	32	c.234 others(53): Show c.2340+21508_2340+21509insTATATATATATATATATATATATA TATATATA	RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	19/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
RABGAP1L_chr1_174154520_175000308	174937619	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03471.hp1 NA18522.hp1 others(2): Show HG02976.hp1 HG03471.hp1 NA18522.hp1 NA18906.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 others(1): Show a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 a0001c0001t0022	a0001c0001t0005g0140 a0001c0001t0007g0212 a0001c0001t0007g0217 others(2): Show a0001c0001t0005g0140 a0001c0001t0007g0212 a0001c0001t0007g0217 a0001c0001t0011g0214 a0001c0001t0022g0200	5	272	0.0184	32	c.234 others(53): Show c.2341-19822_2341-19821insATATATATATATATATATATATAT ATATATAT	RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	19/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
RAC2_chr22_37220270_37249269	37227050	C C	CCTCCATG others(25): Show CCTCCATGCCATACCCTCAACACCCCTCCCACG	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0013	a0001c0003t0013g0144 a0001c0003t0013g0144	1	448	0.0022	32	c.449 others(47): Show c.449-248_449-247insCGTGGGAGGGGTGTTGAGGGTATGGCATGG AG	RAC2	ENSG00000128340.16	transcript	ENST00000249071.11	protein_coding	5/6			chr22	TogoVar
RAD21L1_chr20_1221044_1260876	1252663	T T	TTCTGTGA others(25): Show TTCTGTGAGGTTGTGGAGTGGACAGAAGGTCTA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01516.hp2 HG02738.hp1 others(2): Show HG00738.hp2 HG01516.hp2 HG02738.hp1 HG03704.hp2 HG03710.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0062 a0002c0002t0003g0063 a0002c0002t0003g0064 others(2): Show a0002c0002t0003g0062 a0002c0002t0003g0063 a0002c0002t0003g0064 a0002c0002t0003g0065 a0002c0002t0003g0066	5	364	0.0137	32	c.148 others(51): Show c.1480-1606_1480-1605insTCTGTGAGGTTGTGGAGTGGACAGAA GGTCTA	RAD21L1	ENSG00000244588.6	transcript	ENST00000683101.1	protein_coding	13/13			chr20	TogoVar
RAD50_chr5_132551977_132651349	132619839	T T	TATATATA others(25): Show TATATATATATATAAAGATATATATATATAAAG	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0169 a0001c0001t0004g0169	1	276	0.0036	32	c.338 others(51): Show c.3389+1559_3389+1590dupAAGATATATATATATAAAGATATATA TATATA	RAD50	ENSG00000113522.14	transcript	ENST00000378823.8	protein_coding	21/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
RAD51B_chr14_67814779_68483093	67818085	G G	GTTTTTTT others(25): Show GTTTTTTTTTTTTGTTTGTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	84	0.0119	32	c.-17 others(43): Show c.-1771_-1770insTTTTTTTTTTTTGTTTGTTTTTTTTTTTTTTT	RAD51B	ENSG00000182185.19	transcript	ENST00000471583.6	protein_coding		1693		chr14	TogoVar

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