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
RAB11FIP3_chr16_420649_528011	511626	T T	TAGGAGAG others(41): Show TAGGAGAGGTTCCCGACGGCCCGCCCACCCCAGAAACTGCAGGCCAGGC	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0176 a0001c0001t0002g0176	1	294	0.0034	48	c.164 others(65): Show c.1640+843_1640+890dupGGCCCGCCCACCCCAGAAACTGCAGGCC AGGCAGGAGAGGTTCCCGAC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB1A_chr2_65081854_65135106	65103299	C C	CAAAAAAA others(41): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	278	0.0036	48	c.96+ others(63): Show c.96+1434_96+1435insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTT	RAB1A	ENSG00000138069.18	transcript	ENST00000409784.8	protein_coding	2/5			chr2	TogoVar
RAB1A_chr2_65081854_65135106	65103310	A A	AAAAAAAA others(41): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	331	0.0030	48	c.96+ others(63): Show c.96+1423_96+1424insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTT	RAB1A	ENSG00000138069.18	transcript	ENST00000409784.8	protein_coding	2/5			chr2	TogoVar
RAB20_chr13_110518066_110566722	110530184	A A	ACAGACAC others(41): Show ACAGACACAGGGCCCCGGGGAGGCAGGTCCCACCCGCCCCACCTCTACG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(30): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00597.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01106.hp2 HG01168.hp1 HG01175.hp2 HG01257.hp1 HG01258.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01978.hp2 HG01981.hp1 HG02293.hp2 HG02300.hp1 HG03017.hp1 HG03239.hp1 HG03239.hp2 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp2 HG06807.hp1 NA18979.hp1 NA18989.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0002 a0001c0002t0004 others(1): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0004 a0001c0003t0001	a0001c0001t0001g0064 a0001c0001t0001g0084 a0001c0001t0001g0100 others(28): Show a0001c0001t0001g0064 a0001c0001t0001g0084 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0108 a0001c0001t0001g0123 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0172 a0001c0001t0001g0279 a0001c0001t0001g0292 a0001c0001t0001g0297 a0001c0001t0001g0299 a0001c0001t0001g0301 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0346 a0001c0001t0001g0395 a0001c0002t0002g0196 a0001c0002t0004g0017 a0001c0002t0004g0018 a0001c0002t0004g0115 a0001c0002t0004g0129 a0001c0002t0004g0131 a0001c0002t0004g0139 a0001c0002t0004g0224 a0001c0002t0004g0230 a0001c0002t0004g0310 a0001c0002t0004g0312 a0001c0003t0001g0080 a0001c0003t0001g0226	33	148	0.2230	48	c.173 others(65): Show c.173-6035_173-5988dupCGTAGAGGTGGGGCGGGTGGGACCTGCC TCCCCGGGGCCCTGTGTCTG	RAB20	ENSG00000139832.5	transcript	ENST00000267328.5	protein_coding	1/1			chr13	TogoVar
RAB20_chr13_110518066_110566722	110530193	G G	GGGCCCCG others(41): Show GGGCCCCGGGGAGGCAGGTCCCACCCGCCCCACCTCTACGCAGACACAA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0138 a0001c0002t0004g0138	1	424	0.0024	48	c.173 others(65): Show c.173-5997_173-5996insTTGTGTCTGCGTAGAGGTGGGGCGGGTG GGACCTGCCTCCCCGGGGCC	RAB20	ENSG00000139832.5	transcript	ENST00000267328.5	protein_coding	1/1			chr13	TogoVar
RAB20_chr13_110518066_110566722	110530435	G G	GCCCCGGG others(41): Show GCCCCGGGGAGGCAGGTCCCACCCGCCCCACCTCTACACAGACACAGGA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02056.hp2 HG02080.hp2 others(30): Show HG00438.hp2 HG02056.hp2 HG02080.hp2 HG02083.hp1 HG02129.hp2 HG02135.hp2 HG02723.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG03225.hp2 HG03704.hp1 HG03831.hp1 HG04184.hp1 HG04204.hp2 NA18946.hp1 NA18947.hp1 NA18951.hp2 NA18952.hp2 NA18954.hp2 NA18955.hp1 NA18957.hp1 NA18959.hp1 NA18962.hp1 NA18968.hp2 NA18969.hp1 NA18972.hp2 NA18974.hp1 NA18995.hp1 NA18998.hp1 NA18999.hp2 NA19064.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005	a0001c0001t0001g0188 a0001c0001t0003g0067 a0001c0001t0003g0076 others(28): Show a0001c0001t0001g0188 a0001c0001t0003g0067 a0001c0001t0003g0076 a0001c0001t0003g0079 a0001c0001t0003g0091 a0001c0001t0003g0094 a0001c0001t0003g0124 a0001c0001t0003g0155 a0001c0001t0003g0187 a0001c0001t0003g0192 a0001c0001t0003g0204 a0001c0001t0003g0205 a0001c0001t0003g0207 a0001c0001t0003g0208 a0001c0001t0003g0214 a0001c0001t0003g0217 a0001c0001t0003g0234 a0001c0001t0003g0235 a0001c0001t0003g0284 a0001c0001t0003g0323 a0001c0001t0003g0391 a0001c0001t0003g0394 a0001c0001t0008g0110 a0001c0001t0008g0111 a0001c0002t0001g0209 a0001c0002t0001g0355 a0001c0002t0002g0074 a0001c0002t0002g0118 a0001c0002t0002g0119 a0001c0002t0005g0001 a0001c0002t0005g0044	33	411	0.0803	48	c.173 others(65): Show c.173-6239_173-6238insTCCTGTGTCTGTGTAGAGGTGGGGCGGG TGGGACCTGCCTCCCCGGGG	RAB20	ENSG00000139832.5	transcript	ENST00000267328.5	protein_coding	1/1			chr13	TogoVar
RAB20_chr13_110518066_110566722	110530435	G G	GCCCCGGG others(41): Show GCCCCGGGGAGGCAGGTCCCACCCGCCCCACCTCTACGCAGACACAGGA	intron_variant intron_variant	MODIFIER	HG01123.hp1 NA18961.hp2 NA19240.hp1 others(2): Show HG01123.hp1 NA18961.hp2 NA19240.hp1 NA20129.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0001c0001t0001 a0001c0001t0003 a0001c0002t0002	a0001c0001t0001g0027 a0001c0001t0003g0107 a0001c0001t0003g0109 others(2): Show a0001c0001t0001g0027 a0001c0001t0003g0107 a0001c0001t0003g0109 a0001c0001t0003g0206 a0001c0002t0002g0269	5	383	0.0131	48	c.173 others(65): Show c.173-6239_173-6238insTCCTGTGTCTGCGTAGAGGTGGGGCGGG TGGGACCTGCCTCCCCGGGG	RAB20	ENSG00000139832.5	transcript	ENST00000267328.5	protein_coding	1/1			chr13	TogoVar
RAB20_chr13_110518066_110566722	110530483	A A	ACCCCGGG others(41): Show ACCCCGGGGAAGTAGGTCCCACCCGCCCCACCTCTACGCAGACACAGGG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp2 HG02109.hp1 others(11): Show HG01884.hp2 HG01891.hp2 HG02109.hp1 HG02258.hp2 HG02886.hp1 HG02922.hp1 HG02922.hp2 HG03098.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03471.hp1 HG03471.hp2 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0004	a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 others(3): Show a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0003t0001 a0002c0004t0001	a0001c0001t0003g0026 a0001c0002t0001g0360 a0001c0002t0001g0387 others(10): Show a0001c0001t0003g0026 a0001c0002t0001g0360 a0001c0002t0001g0387 a0001c0002t0002g0025 a0001c0002t0002g0036 a0001c0002t0002g0045 a0001c0002t0002g0396 a0001c0002t0004g0359 a0001c0003t0001g0030 a0001c0003t0001g0222 a0002c0004t0001g0038 a0002c0004t0001g0316 a0002c0004t0001g0317	14	373	0.0375	48	c.173 others(65): Show c.173-6287_173-6286insCCCTGTGTCTGCGTAGAGGTGGGGCGGG TGGGACCTACTTCCCCGGGG	RAB20	ENSG00000139832.5	transcript	ENST00000267328.5	protein_coding	1/1			chr13	TogoVar
RAB20_chr13_110518066_110566722	110530488	G G	GGGGAAGT others(41): Show GGGGAAGTAGGTCCCACCCGCCCCACCTCTACGCAGACACAGGGCCCCA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	422	0.0024	48	c.173 others(65): Show c.173-6292_173-6291insTGGGGCCCTGTGTCTGCGTAGAGGTGGG GCGGGTGGGACCTACTTCCC	RAB20	ENSG00000139832.5	transcript	ENST00000267328.5	protein_coding	1/1			chr13	TogoVar
RAB20_chr13_110518066_110566722	110530531	A A	GCCCCGGG others(41): Show GCCCCGGGGAAGTAGGTCCCACCCGCCCCACCTCTACGCAGACACAGGA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0319 a0002c0004t0001g0319	1	417	0.0024	48	c.173 others(65): Show c.173-6334_173-6333insCCTGTGTCTGCGTAGAGGTGGGGCGGGT GGGACCTACTTCCCCGGGGC	RAB20	ENSG00000139832.5	transcript	ENST00000267328.5	protein_coding	1/1			chr13	TogoVar
RAB27A_chr15_55197966_55294813	55241624	A A	ATATATAT others(41): Show ATATATATATATATATATATATATATATATATATATATATATATGTGTG	intron_variant intron_variant	MODIFIER	HG01891.hp2 NA18522.hp1 HG01891.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0229 a0001c0001t0006g0235 a0001c0001t0002g0229 a0001c0001t0006g0235	2	271	0.0074	48	c.-22 others(65): Show c.-22-6669_-22-6668insCACACATATATATATATATATATATATA TATATATATATATATATATA	RAB27A	ENSG00000069974.17	transcript	ENST00000336787.6	protein_coding	2/6			chr15	TogoVar
RAB27B_chr18_54823477_54900516	54850357	T T	TATATATA others(41): Show TATATATATATATATATATATATATATATATATATATACATACACATAC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0174 a0001c0001t0033g0174	1	314	0.0032	48	c.-20 others(67): Show c.-20+21660_-20+21661insTATATATATATATATATATATATATA TATATATACATACACATACATA	RAB27B	ENSG00000041353.10	transcript	ENST00000262094.10	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr18	TogoVar
RAB2A_chr8_60511987_60628644	60605832	C C	CATATATA others(41): Show CATATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0301 a0001c0001t0005g0301	1	186	0.0054	48	c.475 others(67): Show c.475-12741_475-12740insTATATATATATATATATATATATATA TATATATATATATATATATATA	RAB2A	ENSG00000104388.15	transcript	ENST00000262646.12	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
RAB31_chr18_9703301_9867551	9716910	T T	TTTTCTTT others(41): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG02055.hp2 HG02602.hp1 others(1): Show HG01516.hp2 HG02055.hp2 HG02602.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0014 others(1): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0014 a0001c0001t0034	a0001c0001t0003g0173 a0001c0001t0006g0174 a0001c0001t0014g0186 others(1): Show a0001c0001t0003g0173 a0001c0001t0006g0174 a0001c0001t0014g0186 a0001c0001t0034g0193	4	248	0.0161	48	c.39+ others(63): Show c.39+8489_39+8490insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTT	RAB31	ENSG00000168461.13	transcript	ENST00000578921.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
RAB44_chr6_36692826_36738184	36715102	A A	AATATATA others(41): Show AATATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02572.hp1 HG00642.hp1 HG02572.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0004 a0002c0006t0004	a0002c0006t0004g0061 a0002c0006t0004g0064 a0002c0006t0004g0061 a0002c0006t0004g0064	2	315	0.0063	48	c.320 others(63): Show c.320-361_320-360insATATATATATATATATATATATATATATAT ATATATATATATATATAT	RAB44	ENSG00000255587.9	transcript	ENST00000612677.6	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
RAB5IF_chr20_36600779_36617557	36609156	T T	TACATACA others(41): Show TACATACATACATATACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01943.hp1 HG02080.hp1 others(2): Show HG01891.hp2 HG01943.hp1 HG02080.hp1 HG03491.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0017 a0001c0001t0001g0071 a0001c0001t0001g0165 others(1): Show a0001c0001t0001g0017 a0001c0001t0001g0071 a0001c0001t0001g0165 a0001c0001t0003g0017	5	104	0.0481	48	c.219 others(63): Show c.219-442_219-441insTACATACATATACACACACACACACACACA CACACACACACACACACA	RAB5IF	ENSG00000101084.19	transcript	ENST00000344795.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
RAB6A_chr11_73670638_73766074	73685588	G G	GAAAGTCT others(41): Show GAAAGTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG04228.hp1 HG02622.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0013 a0001c0001t0005 a0001c0001t0013	a0001c0001t0005g0315 a0001c0001t0013g0001 a0001c0001t0005g0315 a0001c0001t0013g0001	2	25	0.0800	48	c.496 others(65): Show c.496-5869_496-5868insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAGACTTT	RAB6A	ENSG00000175582.20	transcript	ENST00000336083.8	protein_coding	6/7			chr11	TogoVar
RAB7A_chr3_128721183_128819798	128763208	A A	ATATATAT others(41): Show ATATATATATATATATATATATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0308 a0001c0001t0001g0308	1	176	0.0057	48	c.-8- others(65): Show c.-8-32151_-8-32150insATATATATATATATATATATATATATAT ATATATATATTTTTTTTTTT	RAB7A	ENSG00000075785.14	transcript	ENST00000265062.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
RABEP2_chr16_28899421_28930238	28929893	T T	TATATATA others(41): Show TATATATATATATATATATAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	36	0.0278	48	c.-47 others(59): Show c.-4731_-4730insCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATAT ATATATATATATAT	RABEP2	ENSG00000177548.13	transcript	ENST00000358201.9	protein_coding		4656		chr16	TogoVar
RABGAP1L_chr1_174154520_175000308	174416035	T T	TATATATA others(41): Show TATATATATATATATATATATATATATATATATATATACACACATATAC	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0150 a0001c0001t0013g0150	1	177	0.0056	48	c.171 others(69): Show c.1710+21891_1710+21892insTATATATATATATATATATATATA TATATATATATACACACATATACA	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(41): Show TATATATATATATATATATATATATATATATATATATATACACATATAC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02647.hp2 HG02970.hp1 others(2): Show HG01081.hp2 HG02647.hp2 HG02970.hp1 HG03209.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0012 a0001c0001t0002 a0001c0001t0005 a0001c0001t0012	a0001c0001t0002g0145 a0001c0001t0005g0138 a0001c0001t0005g0143 others(2): Show a0001c0001t0002g0145 a0001c0001t0005g0138 a0001c0001t0005g0143 a0001c0001t0005g0147 a0001c0001t0012g0094	5	181	0.0276	48	c.171 others(69): Show c.1710+21891_1710+21892insTATATATATATATATATATATATA TATATATATATATACACATATACA	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(41): Show CATATATATATACATATGTATATATACATATATATATATACATATATAT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0144 a0001c0001t0005g0144	1	208	0.0048	48	c.171 others(69): Show c.1711-86381_1711-86380insCATATGTATATATACATATATATA TATACATATATATATATATATATA	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(41): Show GATATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG04204.hp1 NA18982.hp1 HG03098.hp1 HG04204.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0012 a0001c0001t0002 a0001c0001t0012	a0001c0001t0002g0097 a0001c0001t0002g0132 a0001c0001t0012g0129 a0001c0001t0002g0097 a0001c0001t0002g0132 a0001c0001t0012g0129	3	201	0.0149	48	c.234 others(69): Show c.2340+21508_2340+21509insTATATATATATATATATATATATA TATATATATATATATATATATATA	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(41): Show AATATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0144 a0001c0001t0005g0144	1	193	0.0052	48	c.234 others(69): Show c.2341-19822_2341-19821insATATATATATATATATATATATAT ATATATATATATATATATATATAT	RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	19/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
RABGAP1L_chr1_174154520_175000308	174937632	A A	ATATATAT others(41): Show ATATATATATATATATATATATATATATATATATATATATATATCTATC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0103 a0001c0001t0002g0103	1	271	0.0037	48	c.234 others(69): Show c.2341-19822_2341-19821insATATATATATATATATATATATAT ATATATATATATATATCTATCTAT	RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	19/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
RAD17_chr5_69364818_69419801	69377600	T T	TATATATG others(41): Show TATATATGTATACATATATATATGCATATATATGTATACATATATATGC	intron_variant intron_variant	MODIFIER	HG00735.hp1 NA19084.hp2 HG00735.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0053 a0001c0001t0001g0046 a0001c0001t0001g0053	2	310	0.0065	48	c.351 others(65): Show c.351+2895_351+2896insGTATACATATATATATGCATATATATGT ATACATATATATGCATATAT	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(41): Show TATATGTATACATATATATATGCATATATATGTATACATATATATATGC	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	343	0.0029	48	c.351 others(65): Show c.351+2975_351+2976insGTATACATATATATATGCATATATATGT ATACATATATATATGCATAT	RAD17	ENSG00000152942.19	transcript	ENST00000354868.10	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr5	TogoVar
RAD50_chr5_132551977_132651349	132619839	T T	TATATATA others(41): Show TATATATATATATAAAGATATATATATATAAAGATATATATATATAAAG	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0166 a0001c0001t0005g0166	1	186	0.0054	48	c.338 others(67): Show c.3389+1590_3389+1591insAAGATATATATATATAAAGATATATA TATATAAAGATATATATATATA	RAD50	ENSG00000113522.14	transcript	ENST00000378823.8	protein_coding	21/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
RADIL_chr7_4792055_4888716	4886287	T T	TATATATG others(41): Show TATATATGTGTATATATATATATATATATATATATATATATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0007 a0007	a0007c0066 a0007c0066	a0007c0066t0044 a0007c0066t0044	a0007c0066t0044g0132 a0007c0066t0044g0132	1	289	0.0035	48	c.-27 others(59): Show c.-2757_-2756insGTATATATATATATATATATATATATATATATAT ATATACACATATAT	RADIL	ENSG00000157927.17	transcript	ENST00000399583.4	protein_coding		2572		chr7	TogoVar
RADIL_chr7_4792055_4888716	4886300	A A	ATATATAT others(41): Show ATATATATATATATATATATATATATACATATATATATATATATTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0004 a0003c0007t0004	a0003c0007t0004g0112 a0003c0007t0004g0112	1	234	0.0043	48	c.-27 others(59): Show c.-2770_-2769insAAAAAATATATATATATATATGTATATATATATA TATATATATATATA	RADIL	ENSG00000157927.17	transcript	ENST00000399583.4	protein_coding		2585		chr7	TogoVar
RADIL_chr7_4792055_4888716	4886300	A A	ATATATAT others(41): Show ATATATATATATATATATATATATATATATATACATATATATATATTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0043 a0003c0005t0043	a0003c0005t0043g0086 a0003c0005t0043g0086	1	234	0.0043	48	c.-27 others(59): Show c.-2770_-2769insAAAATATATATATATGTATATATATATATATATA TATATATATATATA	RADIL	ENSG00000157927.17	transcript	ENST00000399583.4	protein_coding		2585		chr7	TogoVar
RAE1_chr20_57346255_57384202	57350866	G G	GGGGGGGC others(41): Show GGGGGGGCGGGGGGACGGGGGGCGGGGGGGGCGGGGGGGGCGGGGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	1	325	0.0031	48	c.-56 others(57): Show c.-564_-563insGGGGGGCGGGGGGACGGGGGGCGGGGGGGGCGGGGG GGGCGGGGGGGC	RAE1	ENSG00000101146.13	transcript	ENST00000395841.7	protein_coding		388		chr20	TogoVar
RAE1_chr20_57346255_57384202	57350870	G G	GGGGCGGG others(41): Show GGGGCGGGGGGGGCGGGGGGACGGGGGCGGGGGGCGGGGGGGGGGCGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0009 a0001c0001t0002g0009	1	339	0.0029	48	c.-56 others(57): Show c.-560_-559insGGGCGGGGGGGGCGGGGGGACGGGGGCGGGGGGCGG GGGGGGGGCGGC	RAE1	ENSG00000101146.13	transcript	ENST00000395841.7	protein_coding		384		chr20	TogoVar
RAE1_chr20_57346255_57384202	57350883	G G	GGGGACGG others(41): Show GGGGACGGGGGGCGGGGGGGCGGGGGCGGGGGGACGGGGGCGGGGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0090 a0001c0005t0001g0090	1	335	0.0030	48	c.-54 others(57): Show c.-547_-546insGGGACGGGGGGCGGGGGGGCGGGGGCGGGGGGACGG GGGCGGGGGGGC	RAE1	ENSG00000101146.13	transcript	ENST00000395841.7	protein_coding		371		chr20	TogoVar
RALGDS_chr9_133092722_133126240	133105816	G G	GCCGCCCC others(41): Show GCCGCCCCAGCCCCCGCCCCAGCCCCCGCCCCAGCCCCCGCCCCAGCCC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02622.hp2 HG01109.hp2 HG02622.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0056 a0001c0005t0001g0242 a0001c0005t0001g0056 a0001c0005t0001g0242	2	389	0.0051	48	c.160 others(64): Show c.1602+68_1602+115dupGGGCTGGGGCGGGGGCTGGGGCGGGGGCT GGGGCGGGGGCTGGGGCGG	RALGDS	ENSG00000160271.16	transcript	ENST00000372050.8	protein_coding	9/17			chr9	TogoVar
RALYL_chr8_84178274_84926844	84223209	C C	CTCCCTTC others(41): Show CTCCCTTCCCTTCCCTTCCCTTCCATTCCTCCCTTCCCTTCCCTTCCCT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02723.hp1 HG02630.hp2 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0013 a0001c0001t0002 a0001c0001t0013	a0001c0001t0002g0001 a0001c0001t0013g0018 a0001c0001t0002g0001 a0001c0001t0013g0018	2	31	0.0645	48	c.-24 others(67): Show c.-24+38808_-24+38809insATTCCTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCC	RALYL	ENSG00000184672.12	transcript	ENST00000521268.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RALYL_chr8_84178274_84926844	84342277	A A	AATATATA others(41): Show AATATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 NA18999.hp2 HG02055.hp1 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0079 a0001c0001t0004g0082 a0001c0001t0001g0079 a0001c0001t0004g0082	2	26	0.0769	48	c.-24 others(69): Show c.-24+157872_-24+157873insTATATATATATATATATATATATA TATATATATATATATATATATATA	RALYL	ENSG00000184672.12	transcript	ENST00000521268.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RALYL_chr8_84178274_84926844	84732683	T T	TGTGTATA others(41): Show TGTGTATATATATATATATATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0044 a0001c0001t0002g0044	1	44	0.0227	48	c.257 others(67): Show c.257-41896_257-41895insGTGTATATATATATATATATATATAT ATATATATATATATATACACAC	RALYL	ENSG00000184672.12	transcript	ENST00000521268.6	protein_coding	2/8			chr8	TogoVar
RANBP17_chr5_170857018_171305015	170894484	T T	TTATATAT others(41): Show TTATATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG03927.hp1 NA18972.hp1 HG01358.hp1 HG03927.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0003g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0003g0082	3	85	0.0353	48	c.424 others(65): Show c.424-1565_424-1564insATATATATATATATATATATATATATAT ATATATATATATATATATAT	RANBP17	ENSG00000204764.14	transcript	ENST00000523189.6	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr5	TogoVar
RAP1GAP2_chr17_2791438_3042741	2898929	G G	GTATTGAT others(41): Show GTATTGATTAGCAGGAGTATTGATTAGCAGGAGTATTGATTAGCAGGAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0189 a0001c0001t0002g0189	1	216	0.0046	48	c.81- others(63): Show c.81-6328_81-6327insAGGAGTATTGATTAGCAGGAATATTGATTA GCAGGAGTATTGATTAGC	RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
RAP1GAP2_chr17_2791438_3042741	2964279	G G	GAGAGGAG others(41): Show GAGAGGAGCTGCGGGGGGTGGGGGTGAGGCTGGGGGAGGCTTGGGGGAC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02040.hp2 NA18980.hp1 HG00544.hp2 HG02040.hp2 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0084 a0001c0001t0125 a0001c0001t0013 a0001c0001t0084 a0001c0001t0125	a0001c0001t0013g0193 a0001c0001t0084g0175 a0001c0001t0125g0037 a0001c0001t0013g0193 a0001c0001t0084g0175 a0001c0001t0125g0037	3	216	0.0139	48	c.492 others(63): Show c.492+222_492+269dupCGGGGGGTGGGGGTGAGGCTGGGGGAGGCT TGGGGGACAGAGGAGCTG	RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	7/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
RAP1GAP_chr1_21591221_21674357	21660345	A A	ATATATAT others(41): Show ATATATATATATATATATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0301 a0002c0006t0001g0301	1	259	0.0039	48	c.-14 others(67): Show c.-149+8908_-149+8909insAATATATATATATATATATATATATA TATATATATATATATATATATA	RAP1GAP	ENSG00000076864.21	transcript	ENST00000374765.9	protein_coding	1/24			chr1	TogoVar
RAP1GAP_chr1_21591221_21674357	21660345	A A	ATATATAT others(41): Show ATATATATATATATATATATATATATATATATATATATATATATTTATT	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp2 NA18961.hp2 others(2): Show NA18950.hp1 NA18950.hp2 NA18961.hp2 NA18966.hp1 NA18994.hp2	a0002 a0007 a0002 a0007	a0002c0001 a0002c0005 a0007c0020 a0002c0001 a0002c0005 a0007c0020	a0002c0001t0001 a0002c0005t0001 a0007c0020t0001 a0002c0001t0001 a0002c0005t0001 a0007c0020t0001	a0002c0001t0001g0035 a0002c0001t0001g0036 a0002c0001t0001g0049 others(2): Show a0002c0001t0001g0035 a0002c0001t0001g0036 a0002c0001t0001g0049 a0002c0005t0001g0034 a0007c0020t0001g0037	5	263	0.0190	48	c.-14 others(67): Show c.-149+8908_-149+8909insAATAAATATATATATATATATATATA TATATATATATATATATATATA	RAP1GAP	ENSG00000076864.21	transcript	ENST00000374765.9	protein_coding	1/24			chr1	TogoVar
RAP1GAP_chr1_21591221_21674357	21660352	T T	TATATATA others(41): Show TATATATATATATAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0195 a0001c0004t0001g0195	1	243	0.0041	48	c.-14 others(67): Show c.-149+8901_-149+8902insCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTATATATATATAT	RAP1GAP	ENSG00000076864.21	transcript	ENST00000374765.9	protein_coding	1/24			chr1	TogoVar
RAP1GAP_chr1_21591221_21674357	21660352	T T	TATATATA others(41): Show TATATATATATATATATATAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0189 a0001c0004t0001g0189	1	243	0.0041	48	c.-14 others(67): Show c.-149+8901_-149+8902insCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTATATATATATATATATAT	RAP1GAP	ENSG00000076864.21	transcript	ENST00000374765.9	protein_coding	1/24			chr1	TogoVar
RAPH1_chr2_203428682_203540301	203506776	A A	ATATATCT others(41): Show ATATATCTATATATATCTAGATATATATATCTATATATATATCTATATC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03453.hp2 HG03225.hp2 HG03453.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0026 a0001c0007t0026	a0001c0007t0026g0005 a0001c0007t0026g0006 a0001c0007t0026g0005 a0001c0007t0026g0006	2	286	0.0070	48	c.1-1 others(63): Show c.1-11424_1-11423insGATATAGATATATATATAGATATATATATC TAGATATATATAGATATA	RAPH1	ENSG00000173166.18	transcript	ENST00000319170.10	protein_coding	1/13			chr2	TogoVar
RASGEF1B_chr4_81421393_81476907	81466770	A A	AAAAGAAA others(41): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	45	0.0222	48	c.-7+ others(63): Show c.-7+4952_-7+4999dupCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTT	RASGEF1B	ENSG00000138670.19	transcript	ENST00000264400.7	protein_coding	1/13			chr4	TogoVar
RASGRF1_chr15_78954906_79095780	79024927	C C	CACACACC others(41): Show CACACACCACATATACAAACACACAGACACAAAAACACCACACATACAT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02572.hp2 HG02630.hp2 others(2): Show HG02559.hp1 HG02572.hp2 HG02630.hp2 HG02818.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0002t0004 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0004 a0001c0002t0006	a0001c0001t0001g0233 a0001c0001t0001g0274 a0001c0001t0004g0053 others(2): Show a0001c0001t0001g0233 a0001c0001t0001g0274 a0001c0001t0004g0053 a0001c0002t0004g0241 a0001c0002t0006g0288	5	312	0.0160	48	c.154 others(65): Show c.1542+339_1542+386dupATGTATGTGTGGTGTTTTTGTGTCTGTG TGTTTGTATATGTGGTGTGT	RASGRF1	ENSG00000058335.16	transcript	ENST00000558480.7	protein_coding	10/26			chr15	TogoVar
RASGRF2_chr5_80955363_81235162	80992183	T T	TACACACA others(41): Show TACACACACACACACACATACACACACATACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0008 a0001c0004t0008	a0001c0004t0008g0254 a0001c0004t0008g0254	1	122	0.0082	48	c.288 others(67): Show c.288+31172_288+31173insCATACACACACATACACACACACACA CACACACACACACACACACACA	RASGRF2	ENSG00000113319.13	transcript	ENST00000265080.9	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr5	TogoVar
RASGRF2_chr5_80955363_81235162	80992183	T T	TACACACA others(41): Show TACACACACACACACATACACACACATACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG03490.hp2 HG03579.hp1 others(1): Show HG02738.hp2 HG03490.hp2 HG03579.hp1 NA18987.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0005 a0001c0002 a0002c0005	a0001c0002t0001 a0001c0002t0002 a0001c0002t0012 others(1): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0012 a0002c0005t0003	a0001c0002t0001g0148 a0001c0002t0002g0231 a0001c0002t0012g0105 others(1): Show a0001c0002t0001g0148 a0001c0002t0002g0231 a0001c0002t0012g0105 a0002c0005t0003g0049	4	125	0.0320	48	c.288 others(67): Show c.288+31172_288+31173insTACACACACATACACACACACACACA CACACACACACACACACACACA	RASGRF2	ENSG00000113319.13	transcript	ENST00000265080.9	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr5	TogoVar

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