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
RAB6A_chr11_73670638_73766074	73728648	A A	ATAATAAT others(15): Show ATAATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0105 a0001c0001t0008g0105	1	354	0.0028	22	c.129 others(39): Show c.129+2116_129+2117insATTATTATTATTATTATTATTA	RAB6A	ENSG00000175582.20	transcript	ENST00000336083.8	protein_coding	2/7			chr11	TogoVar
RAB6A_chr11_73670638_73766074	73739284	A A	AAAAAAAA others(15): Show AAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03654.hp2 NA19004.hp1 HG03654.hp2 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0265 a0001c0001t0002g0266	2	354	0.0057	22	c.71- others(37): Show c.71-8462_71-8461insATATATATATATATTTTTTTTT	RAB6A	ENSG00000175582.20	transcript	ENST00000336083.8	protein_coding	1/7			chr11	TogoVar
RAB6A_chr11_73670638_73766074	73739284	A A	AAAAAAAA others(15): Show AAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02040.hp2 HG02135.hp2 others(2): Show HG00544.hp1 HG02040.hp2 HG02135.hp2 NA18978.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0274 others(2): Show a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0274 a0001c0001t0002g0285 a0001c0001t0002g0286	5	354	0.0141	22	c.71- others(37): Show c.71-8462_71-8461insATATATATATATATATTTTTTT	RAB6A	ENSG00000175582.20	transcript	ENST00000336083.8	protein_coding	1/7			chr11	TogoVar
RAB6A_chr11_73670638_73766074	73739284	A A	AAAATATA others(15): Show AAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0258 a0001c0001t0002g0258	1	354	0.0028	22	c.71- others(37): Show c.71-8462_71-8461insATATATATATATATATATATTT	RAB6A	ENSG00000175582.20	transcript	ENST00000336083.8	protein_coding	1/7			chr11	TogoVar
RAB6A_chr11_73670638_73766074	73739304	T T	TATATATA others(15): Show TATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01934.hp1 HG00733.hp2 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0179 a0001c0001t0001g0111 a0001c0001t0001g0179	2	354	0.0057	22	c.71- others(37): Show c.71-8482_71-8481insTTATATATATATATATATATAT	RAB6A	ENSG00000175582.20	transcript	ENST00000336083.8	protein_coding	1/7			chr11	TogoVar
RAB7A_chr3_128721183_128819798	128763208	A A	ATATATAT others(15): Show ATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	314	0.0032	22	c.-8- others(39): Show c.-8-32151_-8-32150insATATATATATATATATTTTTTT	RAB7A	ENSG00000075785.14	transcript	ENST00000265062.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
RAB7A_chr3_128721183_128819798	128763208	A A	ATATATAT others(15): Show ATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0017 a0001c0001t0003g0017	1	314	0.0032	22	c.-8- others(39): Show c.-8-32151_-8-32150insATATATATATATATTTTTTTTT	RAB7A	ENSG00000075785.14	transcript	ENST00000265062.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
RAB7A_chr3_128721183_128819798	128795751	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01433.hp2 HG02080.hp1 others(9): Show HG00438.hp1 HG01433.hp2 HG02080.hp1 HG02080.hp2 HG02148.hp1 HG02523.hp1 HG02523.hp2 HG02723.hp1 NA18939.hp1 NA18944.hp1 NA18946.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0131 a0001c0001t0001g0148 a0001c0001t0001g0180 others(9): Show a0001c0001t0001g0131 a0001c0001t0001g0148 a0001c0001t0001g0180 a0001c0001t0001g0223 a0001c0001t0001g0230 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0242 a0001c0001t0001g0265 a0001c0001t0001g0310 a0001c0001t0003g0121	12	314	0.0382	22	c.53+ others(35): Show c.53+348_53+349insTTTTTTTTTTTTTTTTTTTTTT	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(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01109.hp1 HG02145.hp2 others(4): Show HG00741.hp2 HG01109.hp1 HG02145.hp2 HG02602.hp1 HG02735.hp2 HG04228.hp1 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0116 others(4): Show a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0116 a0001c0001t0001g0179 a0001c0001t0001g0208 a0001c0001t0002g0021 a0001c0001t0002g0054	7	314	0.0223	22	c.528 others(39): Show c.528+2274_528+2295dupTTTTTTTTTTTTTTTTTTTTTT	RAB7A	ENSG00000075785.14	transcript	ENST00000265062.8	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
RABEP1_chr17_5277284_5391340	5282090	C C	CCTCCCGC others(15): Show CCTCCCGCCGCGCTCCCGCCGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp1 HG03688.hp2 NA18942.hp2 others(6): Show HG02074.hp1 HG03688.hp2 NA18942.hp2 NA18957.hp1 NA18969.hp1 NA18980.hp2 NA18995.hp1 NA19072.hp1 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0025 a0001c0002t0006 a0001c0001t0001 a0001c0001t0025 a0001c0002t0006	a0001c0001t0001g0025 a0001c0001t0001g0041 a0001c0001t0001g0045 others(6): Show a0001c0001t0001g0025 a0001c0001t0001g0041 a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0057 a0001c0001t0001g0067 a0001c0001t0025g0031 a0001c0002t0006g0032 a0001c0002t0006g0044	9	352	0.0256	22	c.-39 others(31): Show c.-397_-396insCTCCCGCCGCGCTCCCGCCGCG	RABEP1	ENSG00000029725.17	transcript	ENST00000537505.6	protein_coding		193		chr17	TogoVar
RABEP1_chr17_5277284_5391340	5282096	G G	GCCGCGCT others(15): Show GCCGCGCTCCCCCCGCGCTCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0210 a0001c0003t0003g0210	1	352	0.0028	22	c.-39 others(31): Show c.-391_-390insCCGCGCTCCCCCCGCGCTCCCC	RABEP1	ENSG00000029725.17	transcript	ENST00000537505.6	protein_coding		187		chr17	TogoVar
RABEP1_chr17_5277284_5391340	5282096	G G	GCCGCGCT others(15): Show GCCGCGCTCCCTCCGCGCTCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp2 homoSapiens_chm13v2.hp1 HG01978.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0009 a0001c0005t0016 a0001c0003t0009 a0001c0005t0016	a0001c0003t0009g0190 a0001c0005t0016g0287 a0001c0003t0009g0190 a0001c0005t0016g0287	2	352	0.0057	22	c.-39 others(31): Show c.-391_-390insCCGCGCTCCCTCCGCGCTCCCT	RABEP1	ENSG00000029725.17	transcript	ENST00000537505.6	protein_coding		187		chr17	TogoVar
RABEP2_chr16_28899421_28930238	28929881	T T	TAGAGAGA others(15): Show TAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	366	0.0027	22	c.-47 others(33): Show c.-4719_-4718insCTCTCTCTCTCTCTCTCTCTCT	RABEP2	ENSG00000177548.13	transcript	ENST00000358201.9	protein_coding		4644		chr16	TogoVar
RABEP2_chr16_28899421_28930238	28929887	T T	TAGAGAGA others(15): Show TAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	366	0.0027	22	c.-47 others(33): Show c.-4725_-4724insCTCTCTCTCTCTCTCTCTCTCT	RABEP2	ENSG00000177548.13	transcript	ENST00000358201.9	protein_coding		4650		chr16	TogoVar
RABEP2_chr16_28899421_28930238	28929891	T T	TAGAGAGA others(15): Show TAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp2 HG03654.hp2 HG01496.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0124 a0001c0001t0001g0006 a0001c0001t0001g0124	2	366	0.0055	22	c.-47 others(33): Show c.-4729_-4728insCTCTCTCTCTCTCTCTCTCTCT	RABEP2	ENSG00000177548.13	transcript	ENST00000358201.9	protein_coding		4654		chr16	TogoVar
RABEP2_chr16_28899421_28930238	28929893	T T	TAGAGAGA others(15): Show TAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0252 a0001c0001t0001g0252	1	366	0.0027	22	c.-47 others(33): Show c.-4752_-4731dupCTCTCTCTCTCTCTCTCTCTCT	RABEP2	ENSG00000177548.13	transcript	ENST00000358201.9	protein_coding		4656		chr16	TogoVar
RABEP2_chr16_28899421_28930238	28929893	T T	TATATAGA others(15): Show TATATAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0182 a0001c0001t0008g0182	1	366	0.0027	22	c.-47 others(33): Show c.-4731_-4730insCTCTCTCTCTCTCTCTCTATAT	RABEP2	ENSG00000177548.13	transcript	ENST00000358201.9	protein_coding		4656		chr16	TogoVar
RABEP2_chr16_28899421_28930238	28929893	T T	TATATATA others(15): Show TATATATAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 NA19043.hp2 HG02258.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0253 a0002c0002t0001g0277 a0001c0001t0001g0253 a0002c0002t0001g0277	2	366	0.0055	22	c.-47 others(33): Show c.-4731_-4730insCTCTCTCTCTCTCTCTATATAT	RABEP2	ENSG00000177548.13	transcript	ENST00000358201.9	protein_coding		4656		chr16	TogoVar
RABEP2_chr16_28899421_28930238	28929893	T T	TATATATA others(15): Show TATATATATAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	366	0.0027	22	c.-47 others(33): Show c.-4731_-4730insCTCTCTCTCTCTCTATATATAT	RABEP2	ENSG00000177548.13	transcript	ENST00000358201.9	protein_coding		4656		chr16	TogoVar
RABEP2_chr16_28899421_28930238	28929893	T T	TATATATA others(15): Show TATATATATATAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0268 a0002c0002t0001g0268	1	366	0.0027	22	c.-47 others(33): Show c.-4731_-4730insCTCTCTCTCTCTATATATATAT	RABEP2	ENSG00000177548.13	transcript	ENST00000358201.9	protein_coding		4656		chr16	TogoVar
RABEP2_chr16_28899421_28930238	28929912	A A	AGAGAGAG others(15): Show AGAGAGAGAGAGGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0048 a0004c0005t0001g0048	1	366	0.0027	22	c.-47 others(33): Show c.-4750_-4749insCTCTCTCTCTCCTCTCTCTCTC	RABEP2	ENSG00000177548.13	transcript	ENST00000358201.9	protein_coding		4675		chr16	TogoVar
RABEP2_chr16_28899421_28930238	28929930	A A	AGAGAGAG others(15): Show AGAGAGAGAGAGAGAGAGAGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	366	0.0027	22	c.-47 others(33): Show c.-4768_-4767insCCTCTCTCTCTCTCTCTCTCTC	RABEP2	ENSG00000177548.13	transcript	ENST00000358201.9	protein_coding		4693		chr16	TogoVar
RABGAP1L_chr1_174154520_175000308	174225494	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03471.hp2 HG01243.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0154 a0001c0001t0014g0155 a0001c0001t0014g0154 a0001c0001t0014g0155	2	272	0.0074	22	c.331 others(39): Show c.331+4351_331+4352insTTTTTTTTTTTTTTTTTTTTTT	RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	3/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
RABGAP1L_chr1_174154520_175000308	174280048	G G	GGAGAGAG others(15): Show GGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0142 a0001c0001t0005g0142	1	272	0.0037	22	c.132 others(41): Show c.1323+1292_1323+1313dupGAGAGAGAGAGAGAGAGAGAGA	RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	10/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
RABGAP1L_chr1_174154520_175000308	174280048	G G	GGAGGGAG others(15): Show GGAGGGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	272	0.0037	22	c.132 others(41): Show c.1323+1272_1323+1273insGGAGAGAGAGAGAGAGAGAGAG	RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	10/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
RABGAP1L_chr1_174154520_175000308	174327956	A A	AATATATA others(15): Show AATATATATATATATATACATAT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0148 a0001c0001t0005g0148	1	272	0.0037	22	c.146 others(43): Show c.1465+22846_1465+22847insCATATATATATATATATATATA	RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	11/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
RABGAP1L_chr1_174154520_175000308	174327984	C C	CATATATA others(15): Show CATATATATATATATGTATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0272 a0001c0001t0017g0272	1	272	0.0037	22	c.146 others(43): Show c.1465+22858_1465+22859insTATATATATATATGTATATATA	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(15): Show TATATATATATATACACATATAC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0083 a0002c0003t0006g0083	1	272	0.0037	22	c.171 others(43): Show c.1710+21891_1710+21892insTATATATATATACACATATACA	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(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0026 a0002c0003t0026	a0002c0003t0026g0076 a0002c0003t0026g0076	1	272	0.0037	22	c.171 others(43): Show c.1710+44611_1710+44632dupATATATATATATATATATATAT	RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	13/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
RABGAP1L_chr1_174154520_175000308	174438744	G G	GTGTGTAT others(15): Show GTGTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0079 a0002c0003t0006g0079	1	272	0.0037	22	c.171 others(43): Show c.1710+44600_1710+44601insGTGTATATATATATATATATAT	RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	13/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
RABGAP1L_chr1_174154520_175000308	174502576	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02895.hp2 HG03516.hp2 others(1): Show HG02630.hp2 HG02895.hp2 HG03516.hp2 NA19011.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0006 a0001c0001t0002 a0002c0003t0006	a0001c0001t0002g0095 a0002c0003t0006g0078 a0002c0003t0006g0079 others(1): Show a0001c0001t0002g0095 a0002c0003t0006g0078 a0002c0003t0006g0079 a0002c0003t0006g0080	4	272	0.0147	22	c.171 others(45): Show c.1710+108452_1710+108453insATATATATATATATATATATAT	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(15): Show CATATATATATACATATATATAT	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0104 a0001c0001t0002g0104	1	272	0.0037	22	c.171 others(43): Show c.1711-86381_1711-86380insCATATATATATATATATATATA	RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	13/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
RABGAP1L_chr1_174154520_175000308	174550987	T T	TATATATA others(15): Show TATATATACATATGTATATATAC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0149 a0001c0001t0013g0149	1	272	0.0037	22	c.171 others(43): Show c.1711-86381_1711-86380insCATATGTATATATACATATATA	RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	13/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
RABGAP1L_chr1_174154520_175000308	174773163	G G	GGTGTGTG others(15): Show GGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0024 a0001c0001t0033g0024	1	272	0.0037	22	c.221 others(43): Show c.2211+20829_2211+20830insGTGTGTGTGTGTGTGTGTGTGT	RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	18/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
RABGAP1L_chr1_174154520_175000308	174783707	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0100 a0001c0001t0008g0100	1	272	0.0037	22	c.221 others(43): Show c.2212-28105_2212-28104insTTTTTTTTTTTTTTTTTTTTTT	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(15): Show GATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0109 a0001c0001t0002g0109	1	272	0.0037	22	c.234 others(43): Show c.2340+21508_2340+21509insTATATATATATATATATATATA	RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	19/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
RABGAP1L_chr1_174154520_175000308	174851458	T T	TTTCCCTC others(15): Show TTTCCCTCTTTCAGATTATAGTC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp2 others(175): Show HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01192.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01891.hp1 HG01928.hp1 HG01934.hp2 HG01943.hp2 HG01978.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02132.hp1 HG02132.hp2 HG02293.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02886.hp1 HG02886.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp1 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18967.hp2 NA18971.hp1 NA18971.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp2 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19003.hp1 NA19003.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19088.hp1 NA19088.hp2 NA20129.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008	a0001c0001 a0001c0002 a0002c0009 others(6): Show a0001c0001 a0001c0002 a0002c0009 a0003c0004 a0004c0005 a0005c0008 a0006c0006 a0007c0010 a0008c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(28): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0017 a0001c0001t0018 a0001c0001t0024 a0001c0001t0027 a0001c0001t0028 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0040 a0001c0002t0003 a0001c0002t0030 a0001c0002t0031 a0002c0009t0015 a0003c0004t0001 a0004c0005t0001 a0005c0008t0003 a0006c0006t0004 a0007c0010t0004 a0008c0007t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(175): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0073 a0001c0001t0001g0196 a0001c0001t0001g0201 a0001c0001t0003g0166 a0001c0001t0004g0038 a0001c0001t0004g0223 a0001c0001t0004g0224 a0001c0001t0004g0225 a0001c0001t0004g0226 a0001c0001t0004g0228 a0001c0001t0004g0229 a0001c0001t0004g0230 a0001c0001t0004g0231 a0001c0001t0004g0233 a0001c0001t0004g0235 a0001c0001t0004g0237 a0001c0001t0004g0238 a0001c0001t0004g0239 a0001c0001t0004g0240 a0001c0001t0004g0242 a0001c0001t0004g0243 a0001c0001t0004g0244 a0001c0001t0004g0245 a0001c0001t0004g0246 a0001c0001t0004g0247 a0001c0001t0004g0248 a0001c0001t0004g0249 a0001c0001t0004g0250 a0001c0001t0004g0251 a0001c0001t0004g0252 a0001c0001t0004g0253 a0001c0001t0004g0254 a0001c0001t0004g0255 a0001c0001t0004g0256 a0001c0001t0004g0257 a0001c0001t0004g0258 a0001c0001t0004g0259 a0001c0001t0004g0260 a0001c0001t0004g0263 a0001c0001t0004g0264 a0001c0001t0004g0265 a0001c0001t0004g0266 a0001c0001t0008g0100 a0001c0001t0008g0126 a0001c0001t0008g0127 a0001c0001t0008g0130 a0001c0001t0008g0269 a0001c0001t0008g0270 a0001c0001t0009g0022 a0001c0001t0009g0036 a0001c0001t0009g0063 a0001c0001t0009g0065 a0001c0001t0009g0071 a0001c0001t0010g0203 a0001c0001t0010g0204 a0001c0001t0010g0211 a0001c0001t0010g0221 a0001c0001t0010g0222 a0001c0001t0011g0162 a0001c0001t0011g0214 a0001c0001t0011g0215 a0001c0001t0013g0149 a0001c0001t0013g0150 a0001c0001t0013g0152 a0001c0001t0017g0158 a0001c0001t0018g0232 a0001c0001t0018g0234 a0001c0001t0024g0186 a0001c0001t0027g0182 a0001c0001t0028g0181 a0001c0001t0032g0227 a0001c0001t0033g0024 a0001c0001t0034g0035 a0001c0001t0035g0070 a0001c0001t0036g0057 a0001c0001t0037g0050 a0001c0001t0038g0236 a0001c0001t0040g0267 a0001c0002t0003g0010 a0001c0002t0003g0025 a0001c0002t0003g0062 a0001c0002t0003g0072 a0001c0002t0003g0161 a0001c0002t0003g0163 a0001c0002t0003g0164 a0001c0002t0003g0165 a0001c0002t0003g0167 a0001c0002t0003g0168 a0001c0002t0003g0169 a0001c0002t0003g0170 a0001c0002t0003g0171 a0001c0002t0003g0172 a0001c0002t0003g0173 a0001c0002t0003g0174 a0001c0002t0003g0175 a0001c0002t0003g0176 a0001c0002t0003g0177 a0001c0002t0003g0178 a0001c0002t0003g0179 a0001c0002t0003g0180 a0001c0002t0003g0183 a0001c0002t0003g0184 a0001c0002t0003g0185 a0001c0002t0003g0187 a0001c0002t0003g0188 a0001c0002t0003g0189 a0001c0002t0003g0190 a0001c0002t0003g0191 a0001c0002t0003g0192 a0001c0002t0003g0193 a0001c0002t0003g0194 a0001c0002t0003g0195 a0001c0002t0003g0197 a0001c0002t0003g0202 a0001c0002t0003g0205 a0001c0002t0003g0206 a0001c0002t0003g0207 a0001c0002t0003g0210 a0001c0002t0003g0262 a0001c0002t0030g0064 a0001c0002t0031g0209 a0002c0009t0015g0218 a0003c0004t0001g0027 a0003c0004t0001g0051 a0003c0004t0001g0055 a0004c0005t0001g0061 a0005c0008t0003g0208 a0006c0006t0004g0241 a0007c0010t0004g0261 a0008c0007t0001g0003	178	272	0.6544	22	c.234 others(43): Show c.2340+39500_2340+39501insCCCTCTTTCAGATTATAGTCTT	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(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01192.hp1 NA19030.hp2 HG01192.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0027 a0001c0001t0011 a0001c0001t0027	a0001c0001t0011g0215 a0001c0001t0027g0182 a0001c0001t0011g0215 a0001c0001t0027g0182	2	272	0.0074	22	c.234 others(43): Show c.2341-19822_2341-19821insATATATATATATATATATATAT	RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	19/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
RABGAP1_chr9_122936020_123109866	122945147	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0183 a0001c0001t0026g0183	1	258	0.0039	22	c.-50 others(39): Show c.-50+4070_-50+4071insTTTTTTTTTTTTTTTTTTTTTT	RABGAP1	ENSG00000011454.18	transcript	ENST00000373647.9	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
RABGAP1_chr9_122936020_123109866	123103588	C C	CATATATA others(15): Show CATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18959.hp1 NA18970.hp2 NA18959.hp1 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0115 a0001c0001t0116 a0001c0001t0115 a0001c0001t0116	a0001c0001t0115g0004 a0001c0001t0116g0120 a0001c0001t0115g0004 a0001c0001t0116g0120	2	258	0.0078	22	c.40 others(31): Show c.403_*424dupTATATATATATATATATATATA	RABGAP1	ENSG00000011454.18	transcript	ENST00000373647.9	protein_coding	26/26	425	INFO_REALIGN_3_PRIME	chr9	TogoVar
RACGAP1_chr12_49984162_50030494	49991457	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01070.hp1 HG01175.hp2 others(5): Show HG00438.hp2 HG01070.hp1 HG01175.hp2 HG01256.hp1 HG02074.hp1 NA18969.hp2 NA18973.hp2 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0113 a0001c0001t0001g0136 others(5): Show a0001c0001t0001g0066 a0001c0001t0001g0113 a0001c0001t0001g0136 a0001c0001t0001g0142 a0001c0001t0001g0198 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0218	8	324	0.0247	22	c.171 others(39): Show c.1714+519_1714+540dupTATATATATATATATATATATA	RACGAP1	ENSG00000161800.13	transcript	ENST00000312377.10	protein_coding	15/16			chr12	TogoVar
RACGAP1_chr12_49984162_50030494	49991479	A A	ATATATAT others(15): Show ATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	324	0.0031	22	c.171 others(39): Show c.1714+518_1714+519insAATATATATATATATATATATA	RACGAP1	ENSG00000161800.13	transcript	ENST00000312377.10	protein_coding	15/16			chr12	TogoVar
RACGAP1_chr12_49984162_50030494	49991479	A A	ATATATAT others(15): Show ATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA19079.hp2 NA18950.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0193 a0001c0001t0001g0195	2	324	0.0062	22	c.171 others(39): Show c.1714+518_1714+519insAAAATATATATATATATATATA	RACGAP1	ENSG00000161800.13	transcript	ENST00000312377.10	protein_coding	15/16			chr12	TogoVar
RACGAP1_chr12_49984162_50030494	49991479	A A	ATATATAT others(15): Show ATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0020 a0001c0002t0001g0020	1	324	0.0031	22	c.171 others(39): Show c.1714+518_1714+519insAAAAAATATATATATATATATA	RACGAP1	ENSG00000161800.13	transcript	ENST00000312377.10	protein_coding	15/16			chr12	TogoVar
RACGAP1_chr12_49984162_50030494	49991479	A A	ATATATAT others(15): Show ATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02886.hp1 HG02055.hp2 HG02886.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0278 a0001c0002t0001g0299 a0001c0002t0001g0278 a0001c0002t0001g0299	2	324	0.0062	22	c.171 others(39): Show c.1714+518_1714+519insAAAAAAAATATATATATATATA	RACGAP1	ENSG00000161800.13	transcript	ENST00000312377.10	protein_coding	15/16			chr12	TogoVar
RACGAP1_chr12_49984162_50030494	49991479	A A	ATATATAT others(15): Show ATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp1 NA19081.hp1 HG02809.hp1 NA19081.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0007 a0001c0001 a0003c0007	a0001c0001t0001 a0003c0007t0001 a0001c0001t0001 a0003c0007t0001	a0001c0001t0001g0194 a0003c0007t0001g0015 a0001c0001t0001g0194 a0003c0007t0001g0015	2	324	0.0062	22	c.171 others(39): Show c.1714+518_1714+519insAAAAAAAAAATATATATATATA	RACGAP1	ENSG00000161800.13	transcript	ENST00000312377.10	protein_coding	15/16			chr12	TogoVar
RACK1_chr5_181231897_181248906	181241426	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0110 a0001c0005t0002g0110	1	430	0.0023	22	c.429 others(35): Show c.429+65_429+66insTTTTTTTTTTTTTTTTTTTTTT	RACK1	ENSG00000204628.12	transcript	ENST00000512805.6	protein_coding	3/7			chr5	TogoVar
RAD17_chr5_69364818_69419801	69377682	T T	TATATGTA others(15): Show TATATGTATACATATATATATGC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	359	0.0028	22	c.351 others(39): Show c.351+2975_351+2976insGTATACATATATATATGCATAT	RAD17	ENSG00000152942.19	transcript	ENST00000354868.10	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr5	TogoVar
RAD17_chr5_69364818_69419801	69377682	T T	TATATGTA others(15): Show TATATGTATGCATATATATATGC	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA19004.hp1 NA19081.hp1 NA18994.hp1 NA19004.hp1 NA19081.hp1	a0002 a0010 a0002 a0010	a0002c0002 a0010c0009 a0002c0002 a0010c0009	a0002c0002t0001 a0010c0009t0001 a0002c0002t0001 a0010c0009t0001	a0002c0002t0001g0203 a0002c0002t0001g0204 a0010c0009t0001g0202 a0002c0002t0001g0203 a0002c0002t0001g0204 a0010c0009t0001g0202	3	359	0.0084	22	c.351 others(39): Show c.351+2975_351+2976insGTATGCATATATATATGCATAT	RAD17	ENSG00000152942.19	transcript	ENST00000354868.10	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr5	TogoVar
RAD17_chr5_69364818_69419801	69410965	C C	CTGTCCAT others(15): Show CTGTCCATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA19089.hp1 NA18959.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0071 a0001c0001t0001g0039 a0001c0001t0001g0071	2	359	0.0056	22	c.175 others(39): Show c.1751+416_1751+417insGTCCATATATATATATATATAT	RAD17	ENSG00000152942.19	transcript	ENST00000354868.10	protein_coding	18/18		INFO_REALIGN_3_PRIME	chr5	TogoVar

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