Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
RAB3C_chr5_58578075_58864394	58845612	A A	ATATATAT others(19): Show ATATATATATATATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02922.hp2 HG01981.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0049 a0001c0001t0048 a0001c0001t0049	a0001c0001t0048g0137 a0001c0001t0049g0209 a0001c0001t0048g0137 a0001c0001t0049g0209	2	220	0.0091	26	c.497 others(43): Show c.497-5551_497-5550insATATATATATATGTGTGTGTGTGTGT	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(19): Show ATATATATATATGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0105 a0001c0001t0041g0105	1	220	0.0046	26	c.497 others(43): Show c.497-5551_497-5550insATATATATATGTGTGTGTGTGTGTGT	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
RAB3GAP1_chr2_135047292_135175710	135048373	A A	ACTCACTC others(19): Show ACTCACTCTCTCTCTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02622.hp2 HG02922.hp2 others(4): Show HG02109.hp2 HG02622.hp2 HG02922.hp2 HG03209.hp1 HG03225.hp1 NA18522.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0012 a0001c0001t0004 a0001c0001t0012	a0001c0001t0004g0260 a0001c0001t0004g0261 a0001c0001t0004g0262 others(4): Show a0001c0001t0004g0260 a0001c0001t0004g0261 a0001c0001t0004g0262 a0001c0001t0004g0263 a0001c0001t0004g0265 a0001c0001t0004g0269 a0001c0001t0012g0254	7	280	0.0250	26	c.-39 others(37): Show c.-3935_-3934insCTCACTCTCTCTCTCTCTCTCTCTCT	RAB3GAP1	ENSG00000115839.19	transcript	ENST00000264158.13	protein_coding		3918		chr2	TogoVar
RAB3GAP1_chr2_135047292_135175710	135048373	A A	ACTCTCTC others(19): Show ACTCTCTCTCTCTCTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0009 a0003c0006t0009	a0003c0006t0009g0251 a0003c0006t0009g0251	1	280	0.0036	26	c.-39 others(37): Show c.-3935_-3934insCTCTCTCTCTCTCTCTCTCTCTCTCT	RAB3GAP1	ENSG00000115839.19	transcript	ENST00000264158.13	protein_coding		3918		chr2	TogoVar
RAB3GAP1_chr2_135047292_135175710	135117793	C C	CTTCTTCT others(19): Show CTTCTTCTTCTTCTTCTTTCTTCTTCT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG03195.hp1 others(1): Show HG02895.hp1 HG02897.hp1 HG03195.hp1 HG03225.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0011 a0004c0005t0025 a0004c0005t0011 a0004c0005t0025	a0004c0005t0011g0219 a0004c0005t0011g0220 a0004c0005t0011g0222 others(1): Show a0004c0005t0011g0219 a0004c0005t0011g0220 a0004c0005t0011g0222 a0004c0005t0025g0221	4	280	0.0143	26	c.648 others(43): Show c.648+2427_648+2452dupCTTTCTTCTTCTTTCTTCTTCTTCTT	RAB3GAP1	ENSG00000115839.19	transcript	ENST00000264158.13	protein_coding	7/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
RAB3GAP2_chr1_220143293_220277453	220214946	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0268 a0001c0001t0032g0268	1	378	0.0027	26	c.181 others(41): Show c.181-993_181-968dupTATATATATATATATATATATATATA	RAB3GAP2	ENSG00000118873.17	transcript	ENST00000358951.7	protein_coding	2/34			chr1	TogoVar
RAB3IP_chr12_69733860_69828199	69817653	T T	TACACACA others(19): Show TACACACACACACACACACACACACAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18961.hp1 NA19077.hp1 NA18961.hp1 NA19077.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0143 a0002c0004t0144 a0002c0004t0143 a0002c0004t0144	a0002c0004t0143g0280 a0002c0004t0144g0281 a0002c0004t0143g0280 a0002c0004t0144g0281	2	402	0.0050	26	c.22 others(37): Show c.2216_*2241dupACACACACACACACACACACACACAC	RAB3IP	ENSG00000127328.22	transcript	ENST00000247833.12	protein_coding	11/11	2242	INFO_REALIGN_3_PRIME	chr12	TogoVar
RAB40C_chr16_585066_634268	631698	C C	CCCTCTCC others(19): Show CCCTCTCCTCCCACCCTCTCCTCCCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	350	0.0029	26	c.40 others(37): Show c.4076_*4077insCCTCTCCTCCCACCCTCTCCTCCCAT	RAB40C	ENSG00000197562.10	transcript	ENST00000248139.8	protein_coding		2431		chr16	TogoVar
RAB5B_chr12_55969078_56001683	55996003	A A	ATATATAT others(19): Show ATATATATATATATATATTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0002 a0001c0001t0056g0002	1	382	0.0026	26	c.37 others(37): Show c.3792_*3793insATATATATATATATATTTTTTTTTTT	RAB5B	ENSG00000111540.16	transcript	ENST00000360299.10	protein_coding	6/6	3793	INFO_REALIGN_3_PRIME	chr12	TogoVar
RAB5B_chr12_55969078_56001683	55996003	A A	ATATATAT others(19): Show ATATATATATATATTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0086 a0001c0001t0086	a0001c0001t0086g0025 a0001c0001t0086g0025	1	382	0.0026	26	c.37 others(37): Show c.3792_*3793insATATATATATATTTTTTTTTTTTTTT	RAB5B	ENSG00000111540.16	transcript	ENST00000360299.10	protein_coding	6/6	3793	INFO_REALIGN_3_PRIME	chr12	TogoVar
RAB5IF_chr20_36600779_36617557	36609156	T T	TACACACA others(19): Show TACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01074.hp1 HG03540.hp1 others(5): Show HG01069.hp2 HG01074.hp1 HG03540.hp1 NA18747.hp1 NA18947.hp1 NA19055.hp1 NA19063.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0008 a0001c0001t0001g0241 a0001c0001t0001g0252 others(3): Show a0001c0001t0001g0008 a0001c0001t0001g0241 a0001c0001t0001g0252 a0001c0001t0002g0008 a0001c0001t0002g0226 a0001c0001t0002g0227	8	398	0.0201	26	c.219 others(41): Show c.219-432_219-407dupACACACACACACACACACACACACAC	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(19): Show TACATACATACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0231	1	398	0.0025	26	c.219 others(41): Show c.219-442_219-441insTACATACACACACACACACACACACA	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(19): Show TACATACATACATACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01168.hp2 HG01169.hp2 HG00408.hp1 HG01168.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0234 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0234	3	398	0.0075	26	c.219 others(41): Show c.219-442_219-441insTACATACATACACACACACACACACA	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(19): Show TACATACATACATATACACACACACAC	intron_variant intron_variant	MODIFIER	HG02280.hp2 NA18939.hp2 HG02280.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0225 a0001c0001t0001g0206 a0001c0001t0001g0225	2	398	0.0050	26	c.219 others(41): Show c.219-442_219-441insTACATACATATACACACACACACACA	RAB5IF	ENSG00000101084.19	transcript	ENST00000344795.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
RAB5IF_chr20_36600779_36617557	36609156	T T	TACTTACA others(19): Show TACTTACATACATACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	398	0.0025	26	c.219 others(41): Show c.219-443_219-442insTTACATACATACACACACACACACAC	RAB5IF	ENSG00000101084.19	transcript	ENST00000344795.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
RAB5IF_chr20_36600779_36617557	36609256	C C	CACACACA others(19): Show CACACACACACACACACACACACACTA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0127 a0001c0001t0002g0127	1	398	0.0025	26	c.219 others(41): Show c.219-345_219-344insACACACACACACACACACACACACTA	RAB5IF	ENSG00000101084.19	transcript	ENST00000344795.8	protein_coding	2/3			chr20	TogoVar
RAB5IF_chr20_36600779_36617557	36614038	A A	ACTCACTA others(19): Show ACTCACTACACACAAAATTGCACTGTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0251 a0001c0001t0001g0251	1	398	0.0025	26	c.19 others(37): Show c.1987_*1988insCTCACTACACACAAAATTGCACTGTT	RAB5IF	ENSG00000101084.19	transcript	ENST00000344795.8	protein_coding		1482		chr20	TogoVar
RAB6A_chr11_73670638_73766074	73685588	G G	GAAAGTCT others(19): Show GAAAGTCTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02280.hp2 HG02055.hp1 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0222 a0001c0001t0005g0223 a0001c0001t0005g0222 a0001c0001t0005g0223	2	354	0.0057	26	c.496 others(43): Show c.496-5869_496-5868insAAAAAAAAAAAAAAAAAAAAGACTTT	RAB6A	ENSG00000175582.20	transcript	ENST00000336083.8	protein_coding	6/7			chr11	TogoVar
RAB6A_chr11_73670638_73766074	73739284	A A	AAAAAAAA others(19): Show AAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	354	0.0028	26	c.71- others(41): Show c.71-8462_71-8461insATATATATATATATATATTTTTTTTT	RAB6A	ENSG00000175582.20	transcript	ENST00000336083.8	protein_coding	1/7			chr11	TogoVar
RAB6A_chr11_73670638_73766074	73739284	A A	AAAATATA others(19): Show AAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	354	0.0028	26	c.71- others(41): Show c.71-8462_71-8461insATATATATATATATATATATATATTT	RAB6A	ENSG00000175582.20	transcript	ENST00000336083.8	protein_coding	1/7			chr11	TogoVar
RAB6A_chr11_73670638_73766074	73739304	T T	TATATATA others(19): Show TATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG06807.hp2 HG03041.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0116 a0001c0001t0006g0125 a0001c0001t0006g0116 a0001c0001t0006g0125	2	354	0.0057	26	c.71- others(41): Show c.71-8482_71-8481insTTATATATATATATATATATATATAT	RAB6A	ENSG00000175582.20	transcript	ENST00000336083.8	protein_coding	1/7			chr11	TogoVar
RAB6A_chr11_73670638_73766074	73757094	C C	CATACATA others(19): Show CATACATACATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0062 a0001c0001t0003g0062	1	354	0.0028	26	c.70+ others(41): Show c.70+3471_70+3472insATATATATATATATATATGTATGTAT	RAB6A	ENSG00000175582.20	transcript	ENST00000336083.8	protein_coding	1/7			chr11	TogoVar
RAB7A_chr3_128721183_128819798	128795751	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02040.hp2 HG01123.hp1 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0240 a0001c0001t0001g0204 a0001c0001t0001g0240	2	314	0.0064	26	c.53+ others(39): Show c.53+348_53+349insTTTTTTTTTTTTTTTTTTTTTTTTTT	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(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01255.hp2 others(2): Show HG01069.hp2 HG01071.hp1 HG01255.hp2 HG02486.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0192 a0001c0001t0001g0201 a0001c0001t0001g0263 others(2): Show a0001c0001t0001g0192 a0001c0001t0001g0201 a0001c0001t0001g0263 a0001c0001t0002g0052 a0001c0001t0003g0127	5	314	0.0159	26	c.528 others(43): Show c.528+2270_528+2295dupTTTTTTTTTTTTTTTTTTTTTTTTTT	RAB7A	ENSG00000075785.14	transcript	ENST00000265062.8	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
RABEP1_chr17_5277284_5391340	5287911	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0185 a0001c0003t0003g0185	1	352	0.0028	26	c.34+ others(41): Show c.34+5401_34+5402insAAAAAAAAAAAAAAAAAAAAAAAAAA	RABEP1	ENSG00000029725.17	transcript	ENST00000537505.6	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
RABEP1_chr17_5277284_5391340	5323819	A A	AATATATA others(19): Show AATATATATATATATATCTAGGAATAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	352	0.0028	26	c.164 others(43): Show c.164-8116_164-8115insATCTAGGAATATATATATATATATAT	RABEP1	ENSG00000029725.17	transcript	ENST00000537505.6	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
RABEP1_chr17_5277284_5391340	5323839	A A	AATATATA others(19): Show AATATATATATATATATCTAGGAATAT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01069.hp1 HG01071.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0015 a0002c0006t0015	a0002c0006t0015g0342 a0002c0006t0015g0343 a0002c0006t0015g0342 a0002c0006t0015g0343	2	352	0.0057	26	c.164 others(43): Show c.164-8096_164-8095insATCTAGGAATATATATATATATATAT	RABEP1	ENSG00000029725.17	transcript	ENST00000537505.6	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
RABEP2_chr16_28899421_28930238	28929891	T T	TAGAGAGA others(19): Show TAGAGAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	366	0.0027	26	c.-47 others(37): Show c.-4729_-4728insCTCTCTCTCTCTCTCTCTCTCTCTCT	RABEP2	ENSG00000177548.13	transcript	ENST00000358201.9	protein_coding		4654		chr16	TogoVar
RABEP2_chr16_28899421_28930238	28929893	T T	TATATATA others(19): Show TATATATATAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	366	0.0027	26	c.-47 others(37): Show c.-4731_-4730insCTCTCTCTCTCTCTCTCTATATATAT	RABEP2	ENSG00000177548.13	transcript	ENST00000358201.9	protein_coding		4656		chr16	TogoVar
RABEP2_chr16_28899421_28930238	28929893	T T	TATATATA others(19): Show TATATATATATATAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0041 a0002c0002t0001g0041	1	366	0.0027	26	c.-47 others(37): Show c.-4731_-4730insCTCTCTCTCTCTCTATATATATATAT	RABEP2	ENSG00000177548.13	transcript	ENST00000358201.9	protein_coding		4656		chr16	TogoVar
RABEP2_chr16_28899421_28930238	28929893	T T	TATATATA others(19): Show TATATATATATATATATAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	366	0.0027	26	c.-47 others(37): Show c.-4731_-4730insCTCTCTCTCTATATATATATATATAT	RABEP2	ENSG00000177548.13	transcript	ENST00000358201.9	protein_coding		4656		chr16	TogoVar
RABEP2_chr16_28899421_28930238	28929931	G G	GAGAGAGA others(19): Show GAGAGAGAGAGAGAGAGAGAGAGAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	366	0.0027	26	c.-47 others(37): Show c.-4769_-4768insTTCTCTCTCTCTCTCTCTCTCTCTCT	RABEP2	ENSG00000177548.13	transcript	ENST00000358201.9	protein_coding		4694		chr16	TogoVar
RABGAP1L_chr1_174154520_175000308	174327956	A A	AATATATA others(19): Show AATATATATATATATATACATATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0147 a0001c0001t0005g0147	1	272	0.0037	26	c.146 others(47): Show c.1465+22846_1465+22847insCATATATATATATATATATATATA TA	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(19): Show TATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	272	0.0037	26	c.146 others(47): Show c.1465+22882_1465+22883insCACACACATATATATATATATATA TA	RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	11/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
RABGAP1L_chr1_174154520_175000308	174351068	T T	TGGGGGGA others(19): Show TGGGGGGAGGGGGAGGGGGGAGGGGGA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0200 a0001c0001t0022g0200	1	272	0.0037	26	c.146 others(47): Show c.1466-19893_1466-19892insGAGGGGGAGGGGGGAGGGGGAGGG GG	RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	11/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
RABGAP1L_chr1_174154520_175000308	174364243	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0212 a0001c0001t0007g0212	1	272	0.0037	26	c.146 others(45): Show c.1466-6732_1466-6707dupTTTTTTTTTTTTTTTTTTTTTTTTTT	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(19): Show TATATATATATATATATACACATATAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00323.hp2 others(13): Show HG00099.hp2 HG00140.hp1 HG00323.hp2 HG00438.hp2 HG00733.hp1 HG01074.hp1 HG02257.hp1 HG02630.hp1 HG02717.hp2 HG03098.hp2 NA18966.hp1 NA18982.hp1 NA18991.hp2 NA18995.hp1 NA19011.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0001c0001t0016 a0002c0003t0006 a0001c0001t0002 a0001c0001t0016 a0002c0003t0006	a0001c0001t0002g0086 a0001c0001t0002g0089 a0001c0001t0002g0093 others(13): Show a0001c0001t0002g0086 a0001c0001t0002g0089 a0001c0001t0002g0093 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0103 a0001c0001t0002g0105 a0001c0001t0002g0114 a0001c0001t0002g0122 a0001c0001t0002g0129 a0001c0001t0002g0132 a0001c0001t0002g0135 a0001c0001t0002g0153 a0001c0001t0016g0090 a0002c0003t0006g0074 a0002c0003t0006g0075	16	272	0.0588	26	c.171 others(47): Show c.1710+21891_1710+21892insTATATATATATATATACACATATA CA	RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	13/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
RABGAP1L_chr1_174154520_175000308	174416035	T T	TATATATA others(19): Show TATATATATATATATATATACATATAC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0220 a0001c0001t0007g0220	1	272	0.0037	26	c.171 others(47): Show c.1710+21891_1710+21892insTATATATATATATATATACATATA CA	RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	13/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
RABGAP1L_chr1_174154520_175000308	174434108	T T	TACACACA others(19): Show TACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0182 a0001c0001t0027g0182	1	272	0.0037	26	c.171 others(47): Show c.1710+39982_1710+40007dupACACACACACACACACACACACAC AC	RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	13/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
RABGAP1L_chr1_174154520_175000308	174438744	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0144 a0001c0001t0005g0144	1	272	0.0037	26	c.171 others(47): Show c.1710+44607_1710+44632dupATATATATATATATATATATATAT AT	RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	13/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
RABGAP1L_chr1_174154520_175000308	174502601	C C	CATATATG others(19): Show CATATATGTGTGTATATATATGTACAT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0221 a0001c0001t0010g0221	1	272	0.0037	26	c.171 others(49): Show c.1710+108495_1710+108520dupATATATATGTACATATATATGT GTGT	RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	13/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
RABGAP1L_chr1_174154520_175000308	174550983	C C	CATATATA others(19): Show CATATATATATATACACATATATATAT	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0071 a0001c0001t0009g0071	1	272	0.0037	26	c.171 others(47): Show c.1711-86376_1711-86351dupCATATATATATATATATATATATA CA	RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	13/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
RABGAP1L_chr1_174154520_175000308	174550989	T T	TATATACA others(19): Show TATATACATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0086 a0001c0001t0002g0086	1	272	0.0037	26	c.171 others(47): Show c.1711-86381_1711-86380insCATATATATATATATATATACATA TA	RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	13/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
RABGAP1L_chr1_174154520_175000308	174833449	G G	GATATATA others(19): Show GATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0159 a0001c0001t0007g0159	1	272	0.0037	26	c.234 others(47): Show c.2340+21508_2340+21509insTATATATATATATATATATATATA TA	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(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0198 a0001c0001t0023g0198	1	272	0.0037	26	c.234 others(47): Show c.2341-19822_2341-19821insATATATATATATATATATATATAT AT	RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	19/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
RABGAP1_chr9_122936020_123109866	123103588	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0118 a0001c0001t0118	a0001c0001t0118g0116 a0001c0001t0118g0116	1	258	0.0039	26	c.39 others(35): Show c.399_*424dupTATATATATATATATATATATATATA	RABGAP1	ENSG00000011454.18	transcript	ENST00000373647.9	protein_coding	26/26	425	INFO_REALIGN_3_PRIME	chr9	TogoVar
RABL2B_chr22_50762506_50788636	50787991	G G	GATAAATT others(19): Show GATAAATTAATAAATAAATAACTTAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0003 a0001c0001t0005g0003	1	476	0.0021	26	c.-45 others(37): Show c.-4545_-4544insATTAAGTTATTTATTTATTAATTTAT	RABL2B	ENSG00000079974.19	transcript	ENST00000691320.1	protein_coding		4356		chr22	TogoVar
RAC2_chr22_37220270_37249269	37227050	C C	CCTCCCAT others(19): Show CCTCCCATGCCATACACCCCTCCCACG	intron_variant intron_variant	MODIFIER	HG03041.hp2 NA20300.hp1 HG03041.hp2 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0123 a0001c0002t0007g0202 a0001c0002t0007g0123 a0001c0002t0007g0202	2	448	0.0045	26	c.449 others(41): Show c.449-248_449-247insCGTGGGAGGGGTGTATGGCATGGGAG	RAC2	ENSG00000128340.16	transcript	ENST00000249071.11	protein_coding	5/6			chr22	TogoVar
RACGAP1_chr12_49984162_50030494	49991457	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01123.hp2 HG02559.hp1 others(1): Show HG00544.hp2 HG01123.hp2 HG02559.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 a0001c0001t0001 a0001c0001t0006 a0001c0002t0001	a0001c0001t0001g0143 a0001c0001t0001g0205 a0001c0001t0006g0177 others(1): Show a0001c0001t0001g0143 a0001c0001t0001g0205 a0001c0001t0006g0177 a0001c0002t0001g0008	4	324	0.0124	26	c.171 others(43): Show c.1714+540_1714+541insTATATATATATATATATATATATATA	RACGAP1	ENSG00000161800.13	transcript	ENST00000312377.10	protein_coding	15/16			chr12	TogoVar
RACGAP1_chr12_49984162_50030494	49991479	A A	ATATATAT others(19): Show ATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0028 a0002c0003t0001g0028	1	324	0.0031	26	c.171 others(43): Show c.1714+518_1714+519insAAAAAAAATATATATATATATATATA	RACGAP1	ENSG00000161800.13	transcript	ENST00000312377.10	protein_coding	15/16			chr12	TogoVar

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