Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
RB1_chr13_48298751_48486890	48300336	A A	ATATATAT others(28): Show ATATATATATATATATATATTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	23	0.0435	35	c.-35 others(46): Show c.-3577_-3576insTATATATATATATATATATTTTTTTTTTTTTTTT T	RB1	ENSG00000139687.16	transcript	ENST00000267163.6	protein_coding		3414		chr13	TogoVar
RB1_chr13_48298751_48486890	48300336	A A	ATATATAT others(28): Show ATATATATATATATATATTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG01192.hp1 HG00738.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0049 a0001c0001t0001g0031 a0001c0001t0001g0049	2	24	0.0833	35	c.-35 others(46): Show c.-3577_-3576insTATATATATATATATATTTTTTTTTTTTTTTTTT T	RB1	ENSG00000139687.16	transcript	ENST00000267163.6	protein_coding		3414		chr13	TogoVar
RB1_chr13_48298751_48486890	48300336	A A	ATATATAT others(28): Show ATATATATATATATATTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	23	0.0435	35	c.-35 others(46): Show c.-3577_-3576insTATATATATATATATTTTTTTTTTTTTTTTTTTT T	RB1	ENSG00000139687.16	transcript	ENST00000267163.6	protein_coding		3414		chr13	TogoVar
RB1_chr13_48298751_48486890	48300336	A A	ATATATAT others(28): Show ATATATATATATATTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	23	0.0435	35	c.-35 others(46): Show c.-3577_-3576insTATATATATATATTTTTTTTTTTTTTTTTTTTTT T	RB1	ENSG00000139687.16	transcript	ENST00000267163.6	protein_coding		3414		chr13	TogoVar
RB1_chr13_48298751_48486890	48300336	A A	ATATATAT others(28): Show ATATATATATATTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18970.hp2 NA19070.hp2 NA18970.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0154 a0001c0001t0001g0155	2	24	0.0833	35	c.-35 others(46): Show c.-3577_-3576insTATATATATATTTTTTTTTTTTTTTTTTTTTTTT T	RB1	ENSG00000139687.16	transcript	ENST00000267163.6	protein_coding		3414		chr13	TogoVar
RB1_chr13_48298751_48486890	48300336	A A	ATATATAT others(28): Show ATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	23	0.0435	35	c.-35 others(46): Show c.-3577_-3576insTATATATATTTTTTTTTTTTTTTTTTTTTTTTTT T	RB1	ENSG00000139687.16	transcript	ENST00000267163.6	protein_coding		3414		chr13	TogoVar
RBBP8_chr18_22928328_23031486	23022602	A A	AAAAATAA others(28): Show AAAAATAAAATAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02809.hp1 HG02970.hp2 others(2): Show HG01074.hp2 HG02809.hp1 HG02970.hp2 HG03516.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0002 a0001c0001t0003 a0001c0002t0002	a0001c0001t0003g0103 a0001c0002t0002g0277 a0001c0002t0002g0279 others(2): Show a0001c0001t0003g0103 a0001c0002t0002g0277 a0001c0002t0002g0279 a0001c0002t0002g0281 a0001c0002t0002g0282	5	218	0.0229	35	c.259 others(52): Show c.2596+336_2596+370dupATAAAATAAAATAAAATAAAATAAAATA AAATAAA	RBBP8	ENSG00000101773.19	transcript	ENST00000327155.10	protein_coding	18/18		INFO_REALIGN_3_PRIME	chr18	TogoVar
RBFOX1_chr16_6014024_7718340	6280989	G G	GTGTGTGT others(28): Show GTGTGTGTATATATGTATATATATATGTATTACATA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0009 a0001c0001t0022g0009	1	68	0.0147	35	c.-12 others(56): Show c.-126-36002_-126-35968dupGTGTATATATGTATATATATATGT ATTACATATGT	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	6656940	C C	CTCCTCCC others(28): Show CTCCTCCCCTCTCCTCCCCTTTCCTCTCCTCCCCTT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0045 a0001c0001t0015g0045	1	48	0.0208	35	c.-16 others(52): Show c.-16+2290_-16+2291insTCCTCCCCTCTCCTCCCCTTTCCTCTCC TCCCCTT	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	3/15			chr16	TogoVar
RBFOX3_chr17_79084345_79616051	79151591	G G	GGATGGGA others(28): Show GGATGGGAGAGGACCTGCAGGGGGAGGAGGGGAGGC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00642.hp1 HG01109.hp1 others(5): Show HG00639.hp2 HG00642.hp1 HG01109.hp1 HG01255.hp2 HG02004.hp2 HG02258.hp2 HG03098.hp2 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0001t0015 a0001c0001t0020 a0001c0001t0021 a0001c0002t0001	a0001c0001t0001g0007 a0001c0001t0001g0016 a0001c0001t0004g0097 others(5): Show a0001c0001t0001g0007 a0001c0001t0001g0016 a0001c0001t0004g0097 a0001c0001t0008g0113 a0001c0001t0015g0018 a0001c0001t0020g0030 a0001c0001t0021g0026 a0001c0002t0001g0063	8	152	0.0526	35	c.-33 others(54): Show c.-33-35844_-33-35843insGCCTCCCCTCCTCCCCCTGCAGGTCC TCTCCCATC	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	4/14			chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79151772	G G	GGATGGGA others(28): Show GGATGGGAGGGGACCTGCAGGGGGAGGAGGGGAGGC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00323.hp2 others(55): Show HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00639.hp1 HG00639.hp2 HG00741.hp2 HG01071.hp1 HG01081.hp1 HG01175.hp2 HG01255.hp2 HG01934.hp1 HG01993.hp1 HG02109.hp1 HG02145.hp1 HG02155.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02300.hp1 HG02615.hp1 HG02615.hp2 HG02683.hp2 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02895.hp1 HG02922.hp2 HG02976.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03239.hp1 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03579.hp2 HG03688.hp1 HG03710.hp2 HG03927.hp1 HG06807.hp2 NA18747.hp2 NA18942.hp2 NA18945.hp1 NA18952.hp2 NA18971.hp2 NA18983.hp1 NA18983.hp2 NA19085.hp1 NA19085.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0021 a0001c0001t0024 a0001c0001t0025 a0001c0001t0028 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 a0001c0002t0011	a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0015 others(55): Show a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0028 a0001c0001t0001g0048 a0001c0001t0001g0052 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0077 a0001c0001t0001g0087 a0001c0001t0002g0101 a0001c0001t0002g0104 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0150 a0001c0001t0003g0011 a0001c0001t0003g0033 a0001c0001t0003g0040 a0001c0001t0003g0055 a0001c0001t0003g0061 a0001c0001t0003g0082 a0001c0001t0004g0089 a0001c0001t0004g0090 a0001c0001t0004g0097 a0001c0001t0004g0105 a0001c0001t0004g0133 a0001c0001t0004g0152 a0001c0001t0005g0107 a0001c0001t0005g0147 a0001c0001t0006g0099 a0001c0001t0006g0112 a0001c0001t0006g0125 a0001c0001t0007g0001 a0001c0001t0008g0113 a0001c0001t0013g0070 a0001c0001t0014g0027 a0001c0001t0015g0018 a0001c0001t0016g0019 a0001c0001t0017g0003 a0001c0001t0018g0049 a0001c0001t0021g0026 a0001c0001t0024g0149 a0001c0001t0025g0143 a0001c0001t0028g0136 a0001c0002t0001g0039 a0001c0002t0001g0045 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0080 a0001c0002t0002g0134 a0001c0002t0003g0073 a0001c0002t0006g0140 a0001c0002t0011g0034	58	151	0.3841	35	c.-33 others(54): Show c.-33-36025_-33-36024insGCCTCCCCTCCTCCCCCTGCAGGTCC CCTCCCATC	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	4/14			chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79151918	G G	GGGTGGGA others(28): Show GGGTGGGAGGGGACCTGCAGGGGGAGGAGGGGAGGC	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0112 a0001c0001t0006g0112	1	152	0.0066	35	c.-33 others(54): Show c.-33-36171_-33-36170insGCCTCCCCTCCTCCCCCTGCAGGTCC CCTCCCACC	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	4/14			chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79170141	G G	GAAGGAAG others(28): Show GAAGGAAGGGAGGAGGAAGGAGGAAGGGAGGAGGAA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02818.hp1 HG01261.hp2 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0008 a0001c0001t0006 a0001c0001t0008	a0001c0001t0006g0099 a0001c0001t0008g0130 a0001c0001t0006g0099 a0001c0001t0008g0130	2	152	0.0132	35	c.-33 others(54): Show c.-33-54394_-33-54393insTTCCTCCTCCCTTCCTCCTTCCTCCT CCCTTCCTT	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	4/14			chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79611130	T T	TCTCTCTC others(28): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG03239.hp2 NA18942.hp1 HG01109.hp1 HG03239.hp2 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0019 a0001c0002t0001 a0001c0001t0001 a0001c0001t0019 a0001c0002t0001	a0001c0001t0001g0016 a0001c0001t0019g0037 a0001c0002t0001g0068 a0001c0001t0001g0016 a0001c0001t0019g0037 a0001c0002t0001g0068	3	37	0.0811	35	c.-62 others(44): Show c.-625_-624insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding		80		chr17	TogoVar
RBM23_chr14_22888204_22924149	22911774	G G	GGGAGTCC others(28): Show GGGAGTCCCGCCACACCTTAAAATATAAAATTAGCT	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0140 a0001c0002t0001g0140	1	360	0.0028	35	c.-10 others(50): Show c.-10-372_-10-371insAGCTAATTTTATATTTTAAGGTGTGGCGGG ACTCC	RBM23	ENSG00000100461.18	transcript	ENST00000359890.8	protein_coding	1/13			chr14	TogoVar
RBM33_chr7_155639661_155786480	155784158	T T	TCGTTGCT others(28): Show TCGTTGCTGTGTGCTTAAAAGAAATGAGAAGCACGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0008 a0008c0012t0008	a0008c0012t0008g0266 a0008c0012t0008g0266	1	304	0.0033	35	c.91 others(46): Show c.9117_*9118insCGTTGCTGTGTGCTTAAAAGAAATGAGAAGCACG G	RBM33	ENSG00000184863.11	transcript	ENST00000401878.8	protein_coding		2679		chr7	TogoVar
RBM39_chr20_35696347_35747260	35713666	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0076 a0001c0001t0004g0076	1	52	0.0192	35	c.109 others(52): Show c.1096+518_1096+519insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	RBM39	ENSG00000131051.24	transcript	ENST00000253363.11	protein_coding	11/16			chr20	TogoVar
RBM42_chr19_35624036_35642685	35639846	G G	GCCCCCCC others(28): Show GCCCCCCCCCCCCCCCCCCCCCCCCTTTCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	426	0.0023	35	c.22 others(46): Show c.2292_*2293insCCCCCCCCCCCCCCCCCCCCCCCCTTTCCCCCCC C	RBM42	ENSG00000126254.12	transcript	ENST00000262633.9	protein_coding		2162		chr19	TogoVar
RBM47_chr4_40418280_40634864	40437089	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02809.hp2 HG03471.hp1 HG02145.hp1 HG02809.hp2 HG03471.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0045 a0001c0001t0002 a0002c0002t0045	a0001c0001t0002g0078 a0001c0001t0002g0138 a0002c0002t0045g0089 a0001c0001t0002g0078 a0001c0001t0002g0138 a0002c0002t0045g0089	3	257	0.0117	35	c.112 others(52): Show c.1124-443_1124-442insATATATATATATATATATATATATTTTT TTTTTTT	RBM47	ENSG00000163694.15	transcript	ENST00000295971.12	protein_coding	4/6			chr4	TogoVar
RBM47_chr4_40418280_40634864	40573807	A A	AAAGAAAG others(28): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02280.hp1 HG02559.hp1 others(6): Show HG02145.hp1 HG02280.hp1 HG02559.hp1 HG02572.hp1 HG03710.hp1 NA18942.hp2 NA18945.hp1 NA18975.hp1 NA19080.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0002 a0001c0001 a0001c0006 a0002c0002	a0001c0001t0001 a0001c0001t0007 a0001c0006t0004 others(6): Show a0001c0001t0001 a0001c0001t0007 a0001c0006t0004 a0001c0006t0041 a0001c0006t0055 a0002c0002t0012 a0002c0002t0029 a0002c0002t0045 a0002c0002t0068	a0001c0001t0001g0084 a0001c0001t0007g0233 a0001c0006t0004g0204 others(6): Show a0001c0001t0001g0084 a0001c0001t0007g0233 a0001c0006t0004g0204 a0001c0006t0041g0068 a0001c0006t0055g0225 a0002c0002t0012g0266 a0002c0002t0029g0164 a0002c0002t0045g0089 a0002c0002t0068g0250	9	108	0.0833	35	c.-23 others(56): Show c.-239-29302_-239-29301insCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTT	RBM47	ENSG00000163694.15	transcript	ENST00000295971.12	protein_coding	1/6			chr4	TogoVar
RBM47_chr4_40418280_40634864	40573832	A A	AAAGAAAG others(28): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0019 a0001c0001t0011g0019	1	276	0.0036	35	c.-23 others(56): Show c.-239-29327_-239-29326insCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTT	RBM47	ENSG00000163694.15	transcript	ENST00000295971.12	protein_coding	1/6			chr4	TogoVar
RBMS3_chr3_29276071_30015386	29798256	A A	AAAGGGAA others(28): Show AAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGG	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0076 a0001c0001t0076	a0001c0001t0076g0087 a0001c0001t0076g0087	1	94	0.0106	35	c.637 others(54): Show c.637+35300_637+35301insGGAAGGGAAGGGAAGGGAAGGGAAGG GAAGGGAAG	RBMS3	ENSG00000144642.22	transcript	ENST00000383767.7	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
RBMY1A1_chrY_21529879_21554326	21536138	G G	GCTAGGGT others(28): Show GCTAGGGTTTGGGGATCTTTGACCTATTGTATATTT	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0014 a0014	a0014c0013 a0014c0013	a0014c0013t0001 a0014c0013t0001	a0014c0013t0001g0010 a0014c0013t0001g0010	1	64	0.0156	35	c.-4- others(48): Show c.-4-748_-4-714dupTAGGGTTTGGGGATCTTTGACCTATTGTATAT TTC	RBMY1A1	ENSG00000234414.8	transcript	ENST00000382707.6	protein_coding	1/11		INFO_REALIGN_3_PRIME	chrY	TogoVar
RCBTB2_chr13_48483963_48538080	48493323	T T	TCACCCTC others(28): Show TCACCCTCTCTCCACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0268 a0001c0001t0001g0268	1	299	0.0033	35	c.151 others(54): Show c.1515+2867_1515+2868insTGTGTGTGTGTGTGTGTGTGTGTGGA GAGAGGGTG	RCBTB2	ENSG00000136161.13	transcript	ENST00000344532.8	protein_coding	14/14			chr13	TogoVar
RCBTB2_chr13_48483963_48538080	48493325	T T	TCACCCTC others(28): Show TCACCCTCTCTCCACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0267 a0001c0001t0007g0267	1	299	0.0033	35	c.151 others(54): Show c.1515+2865_1515+2866insTGTGTGTGTGTGTGTGTGTGTGTGGA GAGAGGGTG	RCBTB2	ENSG00000136161.13	transcript	ENST00000344532.8	protein_coding	14/14			chr13	TogoVar
RCBTB2_chr13_48483963_48538080	48527356	T T	TATATATA others(28): Show TATATATATGATATATATATATCATATATATATATG	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18998.hp1 NA18939.hp2 NA18998.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0240 a0001c0002t0001g0241 a0001c0002t0001g0240 a0001c0002t0001g0241	2	269	0.0074	35	c.-21 others(54): Show c.-218-2600_-218-2599insCATATATATATATGATATATATATAT CATATATAT	RCBTB2	ENSG00000136161.13	transcript	ENST00000344532.8	protein_coding	1/14			chr13	TogoVar
RCC1_chr1_28501043_28543989	28543239	A A	ATATATAT others(28): Show ATATATATATATATATATATATATGTATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0236 a0001c0005t0002g0236	1	119	0.0084	35	c.52 others(46): Show c.5232_*5233insTATATATATATATATATATATATGTATATATATA T	RCC1	ENSG00000180198.17	transcript	ENST00000683442.1	protein_coding		4251		chr1	TogoVar
RCC2_chr1_17401760_17444677	17431359	A A	AAATATAT others(28): Show AAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0153 a0001c0002t0002g0153	1	144	0.0069	35	c.286 others(52): Show c.286-2161_286-2160insATATATATATATATATATATATATATAT ATATATT	RCC2	ENSG00000179051.14	transcript	ENST00000375436.9	protein_coding	2/12			chr1	TogoVar
RCC2_chr1_17401760_17444677	17431359	A A	ATAAAAAA others(28): Show ATAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0244 a0001c0001t0004g0244	1	144	0.0069	35	c.286 others(52): Show c.286-2161_286-2160insATATATATATATATATATATATATATAT TTTTTTA	RCC2	ENSG00000179051.14	transcript	ENST00000375436.9	protein_coding	2/12			chr1	TogoVar
RCC2_chr1_17401760_17444677	17431359	A A	ATAAAAAT others(28): Show ATAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00738.hp2 HG01069.hp1 others(9): Show HG00423.hp1 HG00738.hp2 HG01069.hp1 HG02015.hp1 HG02280.hp2 HG02451.hp2 NA18967.hp1 NA18968.hp2 NA18972.hp1 NA18981.hp1 NA19054.hp1 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0031 a0001c0001t0003g0220 a0001c0001t0003g0231 others(9): Show a0001c0001t0003g0031 a0001c0001t0003g0220 a0001c0001t0003g0231 a0001c0001t0003g0234 a0001c0001t0003g0271 a0001c0001t0004g0007 a0001c0001t0004g0013 a0001c0001t0004g0014 a0001c0001t0004g0246 a0001c0001t0004g0253 a0001c0001t0004g0257 a0001c0001t0004g0258	12	155	0.0774	35	c.286 others(52): Show c.286-2161_286-2160insATATATATATATATATATATATATATAT ATTTTTA	RCC2	ENSG00000179051.14	transcript	ENST00000375436.9	protein_coding	2/12			chr1	TogoVar
RCHY1_chr4_75474033_75519403	75487615	A A	AATATATA others(28): Show AATATATATATTCATATATATTCATAATATATATTC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0053 a0001c0001t0003g0053	1	398	0.0025	35	c.657 others(52): Show c.657+2965_657+2966insGAATATATATTATGAATATATATGAATA TATATAT	RCHY1	ENSG00000163743.14	transcript	ENST00000324439.10	protein_coding	8/8			chr4	TogoVar
RDX_chr11_110224441_110301614	110289956	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03710.hp1 NA19070.hp1 HG03710.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0004 a0001c0001t0005	a0001c0001t0004g0343 a0001c0001t0005g0314 a0001c0001t0004g0343 a0001c0001t0005g0314	2	94	0.0213	35	c.-65 others(52): Show c.-65+6510_-65+6511insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	RDX	ENSG00000137710.17	transcript	ENST00000645495.2	protein_coding	1/13			chr11	TogoVar
RELN_chr7_103466789_103994658	103909728	T T	TATTTTTA others(28): Show TATTTTTAATATATATAAATATATATTAAATATATA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02559.hp2 HG00609.hp2 HG02559.hp2	a0001 a0001	a0001c0002 a0001c0041 a0001c0002 a0001c0041	a0001c0002t0003 a0001c0041t0017 a0001c0002t0003 a0001c0041t0017	a0001c0002t0003g0167 a0001c0041t0017g0035 a0001c0002t0003g0167 a0001c0041t0017g0035	2	95	0.0211	35	c.337 others(52): Show c.337+7346_337+7347insTATATATTTAATATATATTTATATATAT TAAAAAT	RELN	ENSG00000189056.15	transcript	ENST00000428762.6	protein_coding	2/64			chr7	TogoVar
REPS2_chrX_16941658_17158272	17050195	T T	TTTCTTTC others(28): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0022 a0001c0001t0008g0022	1	143	0.0070	35	c.908 others(52): Show c.908-2185_908-2184insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTT	REPS2	ENSG00000169891.18	transcript	ENST00000357277.8	protein_coding	6/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
RERE_chr1_8347404_8822640	8516227	G G	GGAAAAAA others(28): Show GGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03225.hp1 HG02257.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0005 a0001c0004t0022 a0001c0002t0005 a0001c0004t0022	a0001c0002t0005g0129 a0001c0004t0022g0120 a0001c0002t0005g0129 a0001c0004t0022g0120	2	33	0.0606	35	c.831 others(52): Show c.831-7553_831-7552insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTC	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	7/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8559280	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02165.hp2 NA21309.hp1 HG02165.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0026 a0001c0001t0001 a0001c0005t0026	a0001c0001t0001g0045 a0001c0005t0026g0127 a0001c0001t0001g0045 a0001c0005t0026g0127	2	30	0.0667	35	c.523 others(52): Show c.523-1758_523-1757insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	4/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8789301	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0083 a0001c0004t0005g0083	1	40	0.0250	35	c.-14 others(56): Show c.-145+27858_-145+27859insATATATATATATATATATTTTTTT TTTTTTTTTTT	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	1/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8789301	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0079 a0001c0004t0005g0079	1	40	0.0250	35	c.-14 others(56): Show c.-145+27858_-145+27859insATATATATATATATATATATTTTT TTTTTTTTTTT	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	1/22			chr1	TogoVar
REST_chr4_56902900_56940844	56905326	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0259 a0002c0002t0001g0259	1	397	0.0025	35	c.-28 others(46): Show c.-2897_-2896insTATATATATATATATATATATATATATATATATA T	REST	ENSG00000084093.19	transcript	ENST00000309042.12	protein_coding		2573		chr4	TogoVar
RETREG1_chr5_16468053_16621997	16517154	T T	TAGGAGTC others(28): Show TAGGAGTCTTGGAATGAGGAGGAAGATATATCTAAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00639.hp1 others(56): Show HG00140.hp1 HG00323.hp1 HG00639.hp1 HG00642.hp1 HG00741.hp2 HG01081.hp2 HG01109.hp1 HG01169.hp2 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01261.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01978.hp2 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp2 HG02572.hp1 HG02615.hp1 HG02630.hp2 HG02717.hp1 HG02723.hp1 HG02809.hp1 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp2 HG03927.hp1 HG04184.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA20300.hp1 NA20300.hp2 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0004 others(5): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007 a0001c0008 a0002c0003 a0003c0006 a0004c0012	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(11): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0002t0002 a0001c0002t0004 a0001c0004t0007 a0001c0004t0009 a0001c0007t0014 a0001c0008t0007 a0002c0003t0005 a0003c0006t0001 a0004c0012t0001	a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0015 others(56): Show a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0063 a0001c0001t0001g0089 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0165 a0001c0001t0001g0179 a0001c0001t0001g0239 a0001c0001t0003g0029 a0001c0001t0003g0031 a0001c0001t0003g0058 a0001c0001t0003g0061 a0001c0001t0003g0074 a0001c0001t0003g0086 a0001c0001t0003g0090 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0003g0149 a0001c0001t0003g0176 a0001c0001t0003g0197 a0001c0001t0003g0237 a0001c0001t0003g0240 a0001c0001t0006g0252 a0001c0001t0006g0256 a0001c0001t0006g0268 a0001c0001t0006g0293 a0001c0001t0008g0262 a0001c0001t0010g0003 a0001c0001t0010g0154 a0001c0002t0002g0011 a0001c0002t0002g0035 a0001c0002t0002g0056 a0001c0002t0002g0068 a0001c0002t0002g0070 a0001c0002t0002g0230 a0001c0002t0002g0233 a0001c0002t0002g0236 a0001c0002t0002g0244 a0001c0002t0004g0250 a0001c0002t0004g0260 a0001c0004t0007g0008 a0001c0004t0007g0013 a0001c0004t0007g0069 a0001c0004t0007g0071 a0001c0004t0007g0163 a0001c0004t0007g0241 a0001c0004t0009g0247 a0001c0004t0009g0259 a0001c0004t0009g0274 a0001c0007t0014g0169 a0001c0008t0007g0231 a0002c0003t0005g0067 a0002c0003t0005g0085 a0002c0003t0005g0238 a0003c0006t0001g0005 a0004c0012t0001g0066	59	292	0.2021	35	c.459 others(54): Show c.459-33683_459-33682insGTTAGATATATCTTCCTCCTCATTCC AAGACTCCT	RETREG1	ENSG00000154153.15	transcript	ENST00000306320.10	protein_coding	3/8			chr5	TogoVar
RFC1_chr4_39282456_39371362	39348424	A A	AAAAAGAA others(28): Show AAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG03540.hp2 NA21309.hp1 HG03540.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0001 a0001c0011t0006 a0001c0001t0001 a0001c0011t0006	a0001c0001t0001g0261 a0001c0011t0006g0031 a0001c0001t0001g0261 a0001c0011t0006g0031	2	82	0.0244	35	c.132 others(52): Show c.132+2889_132+2923dupCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTT	RFC1	ENSG00000035928.17	transcript	ENST00000349703.7	protein_coding	2/24			chr4	TogoVar
RFLNA_chr12_124290093_124321024	124293946	G G	GGTTGCAG others(28): Show GGTTGCAGCACCTCATTAAGTTCCTTCCCTTAGACT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0368 a0001c0001t0001g0368	1	386	0.0026	35	c.-14 others(46): Show c.-1484_-1483insGTTGCAGCACCTCATTAAGTTCCTTCCCTTAGAC T	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding		1146		chr12	TogoVar
RFLNA_chr12_124290093_124321024	124296124	C C	CTTTTCTT others(28): Show CTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0376 a0001c0002t0004g0376	1	213	0.0047	35	c.207 others(50): Show c.207+489_207+490insTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTT	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
RFLNA_chr12_124290093_124321024	124296151	C C	CTCTCTCT others(28): Show CTCTCTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0113 a0001c0001t0008g0113	1	241	0.0041	35	c.207 others(50): Show c.207+516_207+517insCTCTCTTTCTCTTTCTTTCTTTCTTTCTTT CTTTT	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
RFLNA_chr12_124290093_124321024	124296162	T T	TTTCTTTC others(28): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02976.hp1 HG02976.hp2 HG02647.hp2 HG02976.hp1 HG02976.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0005 a0001c0002 a0002c0005	a0001c0002t0017 a0002c0005t0005 a0001c0002t0017 a0002c0005t0005	a0001c0002t0017g0260 a0001c0002t0017g0261 a0002c0005t0005g0066 a0001c0002t0017g0260 a0001c0002t0017g0261 a0002c0005t0005g0066	3	231	0.0130	35	c.207 others(50): Show c.207+527_207+528insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCT	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
RFLNA_chr12_124290093_124321024	124296167	T T	TTTCTTTC others(28): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02109.hp1 NA18906.hp1 NA20129.hp1 HG02109.hp1 NA18906.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0002 a0001c0004t0002 a0001c0002t0002 a0001c0004t0002	a0001c0002t0002g0049 a0001c0004t0002g0045 a0001c0004t0002g0046 a0001c0002t0002g0049 a0001c0004t0002g0045 a0001c0004t0002g0046	3	356	0.0084	35	c.207 others(50): Show c.207+532_207+533insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCT	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
RFX2_chr19_5988164_6115500	5990541	A A	AGGGGCGG others(28): Show AGGGGCGGGGCGGGGCGGGGCGGGGCGGGGCGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0008 a0001c0001t0003g0008	1	141	0.0071	35	c.42 others(46): Show c.4293_*4294insGCCCCGCCCCGCCCCGCCCCGCCCCGCCCCGCCC C	RFX2	ENSG00000087903.13	transcript	ENST00000303657.10	protein_coding		2622		chr19	TogoVar
RFX3_chr9_3213297_3531001	3427375	A A	ATTATATA others(28): Show ATTATATAATAATACAATATATATAAATATATATTG	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	194	0.0052	35	c.-8- others(52): Show c.-8-31814_-8-31780dupCAATATATATTTATATATATTGTATTAT TATATAA	RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	1/16			chr9	TogoVar
RGL3_chr19_11389060_11424314	11422359	T T	TGTGGCAG others(28): Show TGTGGCAGGCCACGTTCCCTCGGGCAAGCTGGTGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0250 a0002c0002t0001g0250	1	400	0.0025	35	c.-30 others(46): Show c.-3082_-3081insCTCACCAGCTTGCCCGAGGGAACGTGGCCTGCCA C	RGL3	ENSG00000205517.13	transcript	ENST00000380456.8	protein_coding		3046		chr19	TogoVar
RGN_chrX_47073443_47098313	47088070	G G	GCTATGCA others(28): Show GCTATGCATCTGCCAGAAGCACCTGAGACTCTTTCT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	302	0.0033	35	c.347 others(52): Show c.347-1704_347-1670dupTATGCATCTGCCAGAAGCACCTGAGACT CTTTCTC	RGN	ENSG00000130988.13	transcript	ENST00000397180.6	protein_coding	4/7		INFO_REALIGN_3_PRIME	chrX	TogoVar

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