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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
RAB3GAP2_chr1_220143293_220277453	220214946	T T	TTATATGT others(11): Show TTATATGTATATATATATA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0350 a0001c0001t0002g0350	1	378	0.0027	18	c.181 others(33): Show c.181-968_181-967insTATATATATATACATATA		RAB3GAP2	ENSG00000118873.17	transcript	ENST00000358951.7	protein_coding	2/34						chr1	TogoVar
RAB3IP_chr12_69733860_69828199	69817653	T T	TACACACA others(11): Show TACACACACACACACACAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp2 HG01346.hp1 HG02135.hp1 others(11): Show HG00099.hp2 HG01346.hp1 HG02135.hp1 HG02451.hp2 HG02647.hp2 HG03471.hp2 HG04115.hp1 NA18947.hp1 NA18950.hp1 NA18994.hp1 NA19010.hp2 NA19066.hp1 NA19067.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0012 a0001c0001t0037 a0001c0001t0047 others(4): Show a0001c0001t0012 a0001c0001t0037 a0001c0001t0047 a0001c0001t0076 a0001c0001t0148 a0001c0001t0168 a0001c0008t0090	a0001c0001t0012g0025 a0001c0001t0012g0285 a0001c0001t0012g0295 others(10): Show a0001c0001t0012g0025 a0001c0001t0012g0285 a0001c0001t0012g0295 a0001c0001t0012g0312 a0001c0001t0012g0342 a0001c0001t0012g0343 a0001c0001t0037g0011 a0001c0001t0047g0275 a0001c0001t0047g0286 a0001c0001t0076g0032 a0001c0001t0148g0296 a0001c0001t0168g0314 a0001c0008t0090g0044	14	402	0.0348	18	c.22 others(29): Show c.2224_*2241dupACACACACACACACACAC		RAB3IP	ENSG00000127328.22	transcript	ENST00000247833.12	protein_coding	11/11				2242	INFO_REALIGN_3_PRIME	chr12	TogoVar
RAB42_chr1_28587265_28600449	28592149	G G	GGTGGGGC others(11): Show GGTGGGGCGGGGGAGCGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp1 HG01433.hp1 HG01934.hp1 others(4): Show HG01261.hp1 HG01433.hp1 HG01934.hp1 HG01934.hp2 HG01975.hp2 HG02148.hp2 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0001 a0001c0001t0007g0001 a0001c0001t0001g0001 a0001c0001t0007g0001	7	378	0.0185	18	c.-36 others(27): Show c.-363_-362insGTGGGGCGGGGGAGCGGT		RAB42	ENSG00000188060.8	transcript	ENST00000465518.3	protein_coding					115		chr1	TogoVar
RAB44_chr6_36692826_36738184	36696584	T T	TTCTTTCT others(11): Show TTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0168 a0001c0001t0002g0168	1	428	0.0023	18	c.-13 others(29): Show c.-1344_-1343insTCTTTCTTTCTTTCTTTC		RAB44	ENSG00000255587.9	transcript	ENST00000612677.6	protein_coding					1241		chr6	TogoVar
RAB44_chr6_36692826_36738184	36721185	C C	CAGGCTGC others(11): Show CAGGCTGCCTCCCCTGAGA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02109.hp2 HG02976.hp1 NA18906.hp2 HG02109.hp2 HG02976.hp1 NA18906.hp2	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0002 a0007c0011t0029 a0007c0011t0002 a0007c0011t0029	a0007c0011t0002g0015 a0007c0011t0029g0214 a0007c0011t0002g0015 a0007c0011t0029g0214	3	428	0.0070	18	c.106 others(27): Show c.1068_1069insAAGGCTGCCTCCCCTGAG	p.Glu others(31): Show p.Glu356_Glu357insLysAlaAlaSerProGlu	RAB44	ENSG00000255587.9	transcript	ENST00000612677.6	protein_coding	9/14	1171/4259	1069/3066	357/1021		INFO_REALIGN_3_PRIME	chr6	TogoVar
RAB44_chr6_36692826_36738184	36721185	C C	CAGGCTGC others(11): Show CAGGCTGCCTCCCCTGAGG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00639.hp1 HG00642.hp1 HG01070.hp1 others(67): Show HG00639.hp1 HG00642.hp1 HG01070.hp1 HG01109.hp2 HG01255.hp1 HG01891.hp2 HG02055.hp1 HG02055.hp2 HG02145.hp2 HG02273.hp2 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03516.hp1 HG03540.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18950.hp1 NA18954.hp1 NA18956.hp2 NA18959.hp2 NA18962.hp1 NA18963.hp1 NA18969.hp1 NA18980.hp1 NA18982.hp1 NA18984.hp2 NA18993.hp2 NA19003.hp1 NA19004.hp1 NA19009.hp1 NA19030.hp2 NA19043.hp2 NA19056.hp2 NA19057.hp1 NA19065.hp2 NA19081.hp2 NA19084.hp1 homoSapiens_chm13v2.hp1	a0002 a0003 a0005 others(4): Show a0002 a0003 a0005 a0012 a0013 a0014 a0025	a0002c0005 a0002c0009 a0002c0018 others(8): Show a0002c0005 a0002c0009 a0002c0018 a0002c0026 a0003c0006 a0003c0015 a0005c0010 a0012c0028 a0013c0035 a0014c0027 a0025c0019	a0002c0005t0001 a0002c0005t0002 a0002c0005t0005 others(18): Show a0002c0005t0001 a0002c0005t0002 a0002c0005t0005 a0002c0005t0008 a0002c0005t0009 a0002c0005t0010 a0002c0005t0011 a0002c0005t0017 a0002c0009t0001 a0002c0009t0005 a0002c0018t0002 a0002c0018t0008 a0002c0026t0003 a0003c0006t0001 a0003c0006t0004 a0003c0015t0005 a0005c0010t0006 a0012c0028t0021 a0013c0035t0016 a0014c0027t0001 a0025c0019t0019	a0002c0005t0001g0002 a0002c0005t0001g0016 a0002c0005t0001g0017 others(51): Show a0002c0005t0001g0002 a0002c0005t0001g0016 a0002c0005t0001g0017 a0002c0005t0001g0031 a0002c0005t0001g0036 a0002c0005t0001g0069 a0002c0005t0001g0078 a0002c0005t0001g0203 a0002c0005t0001g0204 a0002c0005t0001g0205 a0002c0005t0001g0229 a0002c0005t0001g0231 a0002c0005t0001g0232 a0002c0005t0002g0054 a0002c0005t0002g0213 a0002c0005t0002g0228 a0002c0005t0005g0032 a0002c0005t0008g0293 a0002c0005t0008g0294 a0002c0005t0008g0295 a0002c0005t0009g0202 a0002c0005t0010g0063 a0002c0005t0011g0212 a0002c0005t0011g0233 a0002c0005t0011g0240 a0002c0005t0017g0043 a0002c0009t0001g0150 a0002c0009t0005g0148 a0002c0009t0005g0149 a0002c0009t0005g0151 a0002c0018t0002g0238 a0002c0018t0008g0284 a0002c0026t0003g0308 a0003c0006t0001g0055 a0003c0006t0001g0058 a0003c0006t0001g0060 a0003c0006t0004g0004 a0003c0006t0004g0014 a0003c0006t0004g0021 a0003c0006t0004g0049 a0003c0006t0004g0053 a0003c0006t0004g0056 a0003c0006t0004g0059 a0003c0006t0004g0061 a0003c0006t0004g0074 a0003c0006t0004g0087 a0003c0015t0005g0051 a0003c0015t0005g0057 a0005c0010t0006g0044 a0005c0010t0006g0309 a0012c0028t0021g0307 a0013c0035t0016g0296 a0014c0027t0001g0016 a0025c0019t0019g0103	70	428	0.1636	18	c.105 others(27): Show c.1056_1073dupTGCCTCCCCTGAGGAGGC	p.Ala others(31): Show p.Ala358_Pro359insAlaSerProGluGluAla	RAB44	ENSG00000255587.9	transcript	ENST00000612677.6	protein_coding	9/14	1176/4259	1074/3066	358/1021		INFO_REALIGN_3_PRIME	chr6	TogoVar
RAB44_chr6_36692826_36738184	36722044	C C	CGGGCCCA others(11): Show CGGGCCCAGCGGTGCAGGA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02109.hp2 HG02257.hp1 HG02257.hp2 others(8): Show HG02109.hp2 HG02257.hp1 HG02257.hp2 HG02622.hp1 HG02896.hp1 HG02965.hp2 HG02976.hp1 HG03139.hp1 HG03225.hp1 NA18906.hp2 NA19043.hp2	a0006 a0007 a0010 others(4): Show a0006 a0007 a0010 a0011 a0012 a0013 a0023	a0006c0012 a0007c0011 a0010c0021 others(4): Show a0006c0012 a0007c0011 a0010c0021 a0011c0020 a0012c0028 a0013c0035 a0023c0029	a0006c0012t0001 a0007c0011t0002 a0007c0011t0029 others(5): Show a0006c0012t0001 a0007c0011t0002 a0007c0011t0029 a0010c0021t0022 a0011c0020t0010 a0012c0028t0021 a0013c0035t0016 a0023c0029t0002	a0006c0012t0001g0024 a0006c0012t0001g0194 a0007c0011t0002g0015 others(6): Show a0006c0012t0001g0024 a0006c0012t0001g0194 a0007c0011t0002g0015 a0007c0011t0029g0214 a0010c0021t0022g0062 a0011c0020t0010g0064 a0012c0028t0021g0307 a0013c0035t0016g0296 a0023c0029t0002g0241	11	428	0.0257	18	c.191 others(27): Show c.1916_1933dupCAGCGGTGCAGGAGGGCC	p.Pro others(13): Show p.Pro639_Gly644dup	RAB44	ENSG00000255587.9	transcript	ENST00000612677.6	protein_coding	9/14	2036/4259	1934/3066	645/1021		INFO_REALIGN_3_PRIME	chr6	TogoVar
RAB5A_chr3_19942097_19990175	19951701	G G	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0108 a0001c0001t0010g0108	1	348	0.0029	18	c.163 others(33): Show c.163+641_163+658dupTTTTTTTTTTTTTTTTTT		RAB5A	ENSG00000144566.11	transcript	ENST00000273047.9	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr3	TogoVar
RAB5B_chr12_55969078_56001683	55996003	A A	ATATATAT others(11): Show ATATATATATATATATTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0057	a0001c0001t0057g0002 a0001c0001t0057g0002	1	382	0.0026	18	c.37 others(29): Show c.3792_*3793insATATATATATATATTTTT		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(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01433.hp2 NA18953.hp1 NA18986.hp2 others(7): Show HG01433.hp2 NA18953.hp1 NA18986.hp2 NA18987.hp1 NA18992.hp1 NA18995.hp1 NA19060.hp1 NA19067.hp2 NA19080.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0011 a0001c0001t0001g0067 a0001c0001t0001g0084 others(7): Show a0001c0001t0001g0011 a0001c0001t0001g0067 a0001c0001t0001g0084 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0002g0011 a0001c0001t0002g0116 a0001c0001t0002g0132 a0001c0001t0003g0011 a0001c0001t0003g0228	10	398	0.0251	18	c.219 others(33): Show c.219-424_219-407dupACACACACACACACACAC		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(11): Show TACATACATACACACACAC	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA19082.hp2 NA18951.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0232 a0001c0001t0001g0164 a0001c0001t0001g0232	2	398	0.0050	18	c.219 others(33): Show c.219-442_219-441insTACATACACACACACACA		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(11): Show TACATACATACACATACAC	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	398	0.0025	18	c.219 others(33): Show c.219-442_219-441insTACATACACATACACACA		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(11): Show TACATACATACATATACAC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02135.hp2 NA19010.hp2 others(2): Show HG00438.hp2 HG02135.hp2 NA19010.hp2 NA19058.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0082 a0001c0001t0001g0213 a0001c0001t0001g0017 a0001c0001t0001g0082 a0001c0001t0001g0213	5	398	0.0126	18	c.219 others(33): Show c.219-442_219-441insTACATACATATACACACA		RAB5IF	ENSG00000101084.19	transcript	ENST00000344795.8	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr20	TogoVar
RAB6A_chr11_73670638_73766074	73714209	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0227 a0001c0001t0002g0227	1	354	0.0028	18	c.401 others(35): Show c.401+2024_401+2041dupATATATATATATATATAT		RAB6A	ENSG00000175582.20	transcript	ENST00000336083.8	protein_coding	5/7						chr11	TogoVar
RAB6A_chr11_73670638_73766074	73722295	A A	ATGTGTGT others(11): Show ATGTGTGTGTGTATGTGTG	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02257.hp1 HG02698.hp2 others(3): Show HG01361.hp1 HG02257.hp1 HG02698.hp2 HG02738.hp1 HG03834.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0023 a0001c0001t0003 a0001c0001t0023	a0001c0001t0003g0014 a0001c0001t0003g0017 a0001c0001t0003g0023 others(3): Show a0001c0001t0003g0014 a0001c0001t0003g0017 a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0042 a0001c0001t0023g0098	6	354	0.0170	18	c.130 others(35): Show c.130-1397_130-1396insCACACATACACACACACA		RAB6A	ENSG00000175582.20	transcript	ENST00000336083.8	protein_coding	2/7						chr11	TogoVar
RAB6A_chr11_73670638_73766074	73722305	G G	GTGTGTAT others(11): Show GTGTGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0292 a0001c0001t0002g0292	1	354	0.0028	18	c.130 others(35): Show c.130-1407_130-1406insTATATATATATATACACA		RAB6A	ENSG00000175582.20	transcript	ENST00000336083.8	protein_coding	2/7						chr11	TogoVar
RAB6A_chr11_73670638_73766074	73722307	A A	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG02300.hp1 NA18945.hp2 others(1): Show HG01069.hp2 HG02300.hp1 NA18945.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0025 a0001c0001t0003g0031 a0001c0001t0003g0052 others(1): Show a0001c0001t0003g0025 a0001c0001t0003g0031 a0001c0001t0003g0052 a0001c0001t0003g0060	4	354	0.0113	18	c.130 others(35): Show c.130-1409_130-1408insCACACACACACACACACA		RAB6A	ENSG00000175582.20	transcript	ENST00000336083.8	protein_coding	2/7						chr11	TogoVar
RAB6A_chr11_73670638_73766074	73728610	A A	AAATAATA others(11): Show AAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00621.hp2 others(34): Show HG00140.hp2 HG00323.hp1 HG00621.hp2 HG00673.hp1 HG01074.hp2 HG01257.hp1 HG02040.hp2 HG02055.hp2 HG02165.hp2 HG02257.hp1 HG02258.hp2 HG02300.hp1 HG02300.hp2 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02818.hp2 HG03209.hp2 HG03492.hp2 HG03516.hp2 HG03927.hp2 HG04115.hp2 HG04184.hp2 NA18906.hp1 NA18945.hp2 NA18951.hp2 NA18970.hp1 NA18993.hp1 NA18994.hp2 NA19002.hp1 NA19011.hp2 NA19070.hp1 NA19079.hp2 NA19091.hp2 NA20300.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0016	a0001c0001t0001g0099 a0001c0001t0001g0108 a0001c0001t0001g0135 others(34): Show a0001c0001t0001g0099 a0001c0001t0001g0108 a0001c0001t0001g0135 a0001c0001t0001g0140 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0170 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0194 a0001c0001t0001g0199 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0002g0075 a0001c0001t0002g0082 a0001c0001t0002g0089 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0230 a0001c0001t0002g0237 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0291 a0001c0001t0002g0295 a0001c0001t0003g0012 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0040 a0001c0001t0003g0042 a0001c0001t0003g0060 a0001c0001t0005g0221 a0001c0001t0006g0117 a0001c0001t0006g0185 a0001c0001t0006g0195 a0001c0001t0007g0254 a0001c0001t0010g0232 a0001c0001t0016g0029	37	354	0.1045	18	c.129 others(35): Show c.129+2137_129+2154dupATTATTATTATTATTATT		RAB6A	ENSG00000175582.20	transcript	ENST00000336083.8	protein_coding	2/7						chr11	TogoVar
RAB6A_chr11_73670638_73766074	73739284	A A	AAAAAATA others(11): Show AAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG02293.hp2 HG01256.hp1 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0281 a0001c0001t0002g0293 a0001c0001t0002g0281 a0001c0001t0002g0293	2	354	0.0057	18	c.71- others(33): Show c.71-8462_71-8461insATATATATATATATTTTT		RAB6A	ENSG00000175582.20	transcript	ENST00000336083.8	protein_coding	1/7						chr11	TogoVar
RAB6A_chr11_73670638_73766074	73739284	A A	AAAATATA others(11): Show AAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	354	0.0028	18	c.71- others(33): Show c.71-8462_71-8461insATATATATATATATATTT		RAB6A	ENSG00000175582.20	transcript	ENST00000336083.8	protein_coding	1/7						chr11	TogoVar
RAB6A_chr11_73670638_73766074	73739304	T T	TATATATA others(11): Show TATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	354	0.0028	18	c.71- others(33): Show c.71-8482_71-8481insTTATATATATATATATAT		RAB6A	ENSG00000175582.20	transcript	ENST00000336083.8	protein_coding	1/7						chr11	TogoVar
RAB6A_chr11_73670638_73766074	73757129	A A	ATATATAT others(11): Show ATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0076 a0001c0001t0002g0076	1	354	0.0028	18	c.70+ others(33): Show c.70+3436_70+3437insAAAATATATATATATATA		RAB6A	ENSG00000175582.20	transcript	ENST00000336083.8	protein_coding	1/7						chr11	TogoVar
RAB6A_chr11_73670638_73766074	73757129	A A	ATATATAT others(11): Show ATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0071 a0001c0001t0002g0071	1	354	0.0028	18	c.70+ others(33): Show c.70+3436_70+3437insAAAAAATATATATATATA		RAB6A	ENSG00000175582.20	transcript	ENST00000336083.8	protein_coding	1/7						chr11	TogoVar
RAB6A_chr11_73670638_73766074	73757129	A A	ATATATAT others(11): Show ATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0064 a0001c0001t0002g0064	1	354	0.0028	18	c.70+ others(33): Show c.70+3436_70+3437insAAAAAAAATATATATATA		RAB6A	ENSG00000175582.20	transcript	ENST00000336083.8	protein_coding	1/7						chr11	TogoVar
RAB7A_chr3_128721183_128819798	128763208	A A	ATATATAT others(11): Show ATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	314	0.0032	18	c.-8- others(35): Show c.-8-32151_-8-32150insATATATATATATTTTTTT		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(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01192.hp1 HG02056.hp1 others(6): Show HG01168.hp2 HG01192.hp1 HG02056.hp1 HG02300.hp2 HG02683.hp1 HG03942.hp2 HG04115.hp2 NA18969.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0005 a0001c0001t0017 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0017 a0001c0004t0002	a0001c0001t0001g0091 a0001c0001t0001g0142 a0001c0001t0001g0209 others(6): Show a0001c0001t0001g0091 a0001c0001t0001g0142 a0001c0001t0001g0209 a0001c0001t0001g0229 a0001c0001t0001g0248 a0001c0001t0001g0257 a0001c0001t0005g0197 a0001c0001t0017g0093 a0001c0004t0002g0059	9	314	0.0287	18	c.53+ others(31): Show c.53+348_53+349insTTTTTTTTTTTTTTTTTT		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(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG02135.hp1 HG02647.hp2 others(2): Show HG01168.hp2 HG02135.hp1 HG02647.hp2 NA18944.hp1 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0142 a0001c0001t0001g0234 a0001c0001t0001g0311 others(2): Show a0001c0001t0001g0142 a0001c0001t0001g0234 a0001c0001t0001g0311 a0001c0001t0002g0034 a0001c0001t0004g0281	5	314	0.0159	18	c.528 others(35): Show c.528+2278_528+2295dupTTTTTTTTTTTTTTTTTT		RAB7A	ENSG00000075785.14	transcript	ENST00000265062.8	protein_coding	5/5					INFO_REALIGN_3_PRIME	chr3	TogoVar
RAB7B_chr1_205971740_206008395	205985764	C C	CCCCACCA others(11): Show CCCCACCAGGCCCACCAGG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02155.hp1 NA18964.hp1 others(8): Show HG00438.hp1 HG02155.hp1 NA18964.hp1 NA18971.hp1 NA18975.hp1 NA18980.hp2 NA19063.hp1 NA19063.hp2 NA19066.hp1 NA19066.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0002 a0001c0001t0001g0154 a0001c0001t0001g0198 others(6): Show a0001c0001t0001g0002 a0001c0001t0001g0154 a0001c0001t0001g0198 a0001c0001t0001g0208 a0001c0001t0001g0244 a0001c0001t0001g0266 a0001c0001t0001g0269 a0001c0001t0002g0018 a0001c0001t0002g0186	11	330	0.0333	18	c.397 others(32): Show c.397-100_397-99insCCTGGTGGGCCTGGTGGG		RAB7B	ENSG00000276600.5	transcript	ENST00000617070.5	protein_coding	4/5						chr1	TogoVar
RABEP1_chr17_5277284_5391340	5310301	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0242 a0001c0001t0033g0242	1	352	0.0028	18	c.163 others(35): Show c.163+1480_163+1497dupTTTTTTTTTTTTTTTTTT		RABEP1	ENSG00000029725.17	transcript	ENST00000537505.6	protein_coding	2/17					INFO_REALIGN_3_PRIME	chr17	TogoVar
RABEP1_chr17_5277284_5391340	5323694	C C	CTAGGAAT others(11): Show CTAGGAATATATATATATA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01074.hp2 HG03490.hp2 others(1): Show HG01069.hp2 HG01074.hp2 HG03490.hp2 HG04115.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0103 a0001c0002t0004g0104 a0001c0002t0004g0122 others(1): Show a0001c0002t0004g0103 a0001c0002t0004g0104 a0001c0002t0004g0122 a0001c0002t0004g0123	4	352	0.0114	18	c.164 others(35): Show c.164-8254_164-8253insAGGAATATATATATATAT		RABEP1	ENSG00000029725.17	transcript	ENST00000537505.6	protein_coding	2/17					INFO_REALIGN_3_PRIME	chr17	TogoVar
RABEP1_chr17_5277284_5391340	5323705	T T	TATATATA others(11): Show TATATATATATATCTAGGA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0348 a0001c0001t0042g0348	1	352	0.0028	18	c.164 others(35): Show c.164-8195_164-8178dupCTAGGAATATATATATAT		RABEP1	ENSG00000029725.17	transcript	ENST00000537505.6	protein_coding	2/17					INFO_REALIGN_3_PRIME	chr17	TogoVar
RABEP1_chr17_5277284_5391340	5329818	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0176 a0001c0001t0017g0176	1	352	0.0028	18	c.164 others(35): Show c.164-2121_164-2104dupTATATATATATATATATA		RABEP1	ENSG00000029725.17	transcript	ENST00000537505.6	protein_coding	2/17					INFO_REALIGN_3_PRIME	chr17	TogoVar
RABEP2_chr16_28899421_28930238	28929878	A A	AGAGAGAG others(11): Show AGAGAGAGAGAGAGAGAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	366	0.0027	18	c.-47 others(29): Show c.-4716_-4715insGCTCTCTCTCTCTCTCTC		RABEP2	ENSG00000177548.13	transcript	ENST00000358201.9	protein_coding					4641		chr16	TogoVar
RABEP2_chr16_28899421_28930238	28929883	T T	TAGAGAGA others(11): Show TAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0232 a0001c0001t0002g0232	1	366	0.0027	18	c.-47 others(29): Show c.-4721_-4720insCTCTCTCTCTCTCTCTCT		RABEP2	ENSG00000177548.13	transcript	ENST00000358201.9	protein_coding					4646		chr16	TogoVar
RABEP2_chr16_28899421_28930238	28929889	T T	TAGAGAGA others(11): Show TAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 NA18522.hp2 NA18612.hp2 HG01243.hp2 NA18522.hp2 NA18612.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0001 a0001c0001t0001 a0002c0004t0001	a0001c0001t0001g0075 a0001c0001t0001g0221 a0002c0004t0001g0275 a0001c0001t0001g0075 a0001c0001t0001g0221 a0002c0004t0001g0275	3	366	0.0082	18	c.-47 others(29): Show c.-4727_-4726insCTCTCTCTCTCTCTCTCT		RABEP2	ENSG00000177548.13	transcript	ENST00000358201.9	protein_coding					4652		chr16	TogoVar
RABEP2_chr16_28899421_28930238	28929891	T T	TAGAGAGA others(11): Show TAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	366	0.0027	18	c.-47 others(29): Show c.-4729_-4728insCTCTCTCTCTCTCTCTCT		RABEP2	ENSG00000177548.13	transcript	ENST00000358201.9	protein_coding					4654		chr16	TogoVar
RABEP2_chr16_28899421_28930238	28929893	T T	TATAGAGA others(11): Show TATAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	366	0.0027	18	c.-47 others(29): Show c.-4731_-4730insCTCTCTCTCTCTCTCTAT		RABEP2	ENSG00000177548.13	transcript	ENST00000358201.9	protein_coding					4656		chr16	TogoVar
RABEP2_chr16_28899421_28930238	28929893	T T	TATATAGA others(11): Show TATATAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	366	0.0027	18	c.-47 others(29): Show c.-4731_-4730insCTCTCTCTCTCTCTATAT		RABEP2	ENSG00000177548.13	transcript	ENST00000358201.9	protein_coding					4656		chr16	TogoVar
RABEP2_chr16_28899421_28930238	28929893	T T	TATATATA others(11): Show TATATATAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG02015.hp1 HG00642.hp2 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0083 a0001c0001t0001g0008 a0001c0001t0001g0083	2	366	0.0055	18	c.-47 others(29): Show c.-4731_-4730insCTCTCTCTCTCTATATAT		RABEP2	ENSG00000177548.13	transcript	ENST00000358201.9	protein_coding					4656		chr16	TogoVar
RABEP2_chr16_28899421_28930238	28929893	T T	TATATATA others(11): Show TATATATATAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0009 a0001c0001t0002g0009	1	366	0.0027	18	c.-47 others(29): Show c.-4731_-4730insCTCTCTCTCTATATATAT		RABEP2	ENSG00000177548.13	transcript	ENST00000358201.9	protein_coding					4656		chr16	TogoVar
RABGAP1L_chr1_174154520_175000308	174195616	T T	TCTTCCTT others(11): Show TCTTCCTTCTTCTTCCTTC	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0038 a0001c0001t0004g0038	1	272	0.0037	18	c.-33 others(37): Show c.-33-23501_-33-23500insTTCTTCCTTCCTTCCTTC		RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	1/25					INFO_REALIGN_3_PRIME	chr1	TogoVar
RABGAP1L_chr1_174154520_175000308	174274606	C C	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02895.hp1 HG02970.hp1 HG02145.hp2 HG02895.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0020 a0001c0001t0002 a0001c0001t0005 a0001c0001t0020	a0001c0001t0002g0145 a0001c0001t0005g0144 a0001c0001t0020g0139 a0001c0001t0002g0145 a0001c0001t0005g0144 a0001c0001t0020g0139	3	272	0.0110	18	c.105 others(37): Show c.1054-1211_1054-1194dupGTGTGTGTGTGTGTGTGT		RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	8/25					INFO_REALIGN_3_PRIME	chr1	TogoVar
RABGAP1L_chr1_174154520_175000308	174292019	T T	TTTATTAT others(11): Show TTTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01081.hp2 NA19057.hp1 HG00408.hp1 HG01081.hp2 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0005 a0001c0002t0003 a0001c0001t0004 a0001c0001t0005 a0001c0002t0003	a0001c0001t0004g0259 a0001c0001t0005g0138 a0001c0002t0003g0262 a0001c0001t0004g0259 a0001c0001t0005g0138 a0001c0002t0003g0262	3	272	0.0110	18	c.132 others(39): Show c.1324-12946_1324-12929dupATTATTATTATTATTATT		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(11): Show AATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01243.hp1 NA19043.hp2 HG01243.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0014 a0001c0001t0013 a0001c0001t0014	a0001c0001t0013g0152 a0001c0001t0014g0154 a0001c0001t0013g0152 a0001c0001t0014g0154	2	272	0.0074	18	c.146 others(39): Show c.1465+22846_1465+22847insCATATATATATATATATA		RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	11/25					INFO_REALIGN_3_PRIME	chr1	TogoVar
RABGAP1L_chr1_174154520_175000308	174327980	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0222 a0001c0001t0010g0222	1	272	0.0037	18	c.146 others(39): Show c.1465+22854_1465+22855insTATATATATATATATATA		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(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02602.hp2 HG02647.hp1 others(1): Show HG00673.hp2 HG02602.hp2 HG02647.hp1 HG03239.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0002 a0008c0006 a0001c0001 a0001c0002 a0008c0006	a0001c0001t0004 a0001c0001t0007 a0001c0002t0003 others(1): Show a0001c0001t0004 a0001c0001t0007 a0001c0002t0003 a0008c0006t0004	a0001c0001t0004g0240 a0001c0001t0007g0220 a0001c0002t0003g0168 others(1): Show a0001c0001t0004g0240 a0001c0001t0007g0220 a0001c0002t0003g0168 a0008c0006t0004g0241	4	272	0.0147	18	c.146 others(37): Show c.1466-6724_1466-6707dupTTTTTTTTTTTTTTTTTT		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(11): Show TATATATATACACATATAC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02055.hp1 HG02257.hp2 others(6): Show HG01891.hp2 HG02055.hp1 HG02257.hp2 HG02630.hp2 HG02818.hp1 HG02895.hp2 HG03453.hp2 HG03516.hp2 HG06807.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0015 a0002c0003t0025 others(1): Show a0002c0003t0006 a0002c0003t0015 a0002c0003t0025 a0002c0003t0026	a0002c0003t0006g0077 a0002c0003t0006g0078 a0002c0003t0006g0079 others(6): Show a0002c0003t0006g0077 a0002c0003t0006g0078 a0002c0003t0006g0079 a0002c0003t0006g0080 a0002c0003t0006g0081 a0002c0003t0015g0084 a0002c0003t0015g0085 a0002c0003t0025g0082 a0002c0003t0026g0076	9	272	0.0331	18	c.171 others(39): Show c.1710+21891_1710+21892insTATATATACACATATACA		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(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG03041.hp2 HG03195.hp1 HG01192.hp1 HG03041.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0160 a0001c0001t0011g0162 a0001c0001t0011g0215 a0001c0001t0011g0160 a0001c0001t0011g0162 a0001c0001t0011g0215	3	272	0.0110	18	c.171 others(39): Show c.1710+39990_1710+40007dupACACACACACACACACAC		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(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03654.hp1 NA19043.hp2 HG03654.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0013 a0001c0001t0004 a0001c0001t0013	a0001c0001t0004g0242 a0001c0001t0013g0152 a0001c0001t0004g0242 a0001c0001t0013g0152	2	272	0.0074	18	c.171 others(39): Show c.1710+44615_1710+44632dupATATATATATATATATAT		RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	13/25					INFO_REALIGN_3_PRIME	chr1	TogoVar
RABGAP1L_chr1_174154520_175000308	174438744	G G	GTGTATAT others(11): Show GTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03471.hp2 HG03195.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0014 a0001c0001t0005 a0001c0001t0014	a0001c0001t0005g0146 a0001c0001t0014g0155 a0001c0001t0005g0146 a0001c0001t0014g0155	2	272	0.0074	18	c.171 others(39): Show c.1710+44600_1710+44601insGTATATATATATATATAT		RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	13/25					INFO_REALIGN_3_PRIME	chr1	TogoVar

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