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
RIMS2_chr8_103495610_104259430	103813389	C C	CTTCTTTC others(37): Show CTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0003 a0003c0006t0003	a0003c0006t0003g0147 a0003c0006t0003g0147	1	132	0.0076	44	c.830 others(63): Show c.830+46878_830+46879insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTT	RIMS2	ENSG00000176406.25	transcript	ENST00000696799.1	protein_coding	6/29		INFO_REALIGN_3_PRIME	chr8	TogoVar
RIOK2_chr5_97155867_97188247	97180142	G G	GTATGTAT others(37): Show GTATGTATATATATATATATATATATATATGTATGTGTATATATA	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0068 a0001c0001t0002g0068	1	53	0.0189	44	c.67- others(57): Show c.67-950_67-949insTATATATACACATACATATATATATATATATA TATATATACATA	RIOK2	ENSG00000058729.11	transcript	ENST00000283109.8	protein_coding	1/9			chr5	TogoVar
RIPK2_chr8_89752816_89796064	89753750	A A	ATTAATAT others(37): Show ATTAATATATAAATATATTATATATTTATATATTATATATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01071.hp2 HG01074.hp2 HG01168.hp2 others(5): Show HG01071.hp2 HG01074.hp2 HG01168.hp2 HG01169.hp1 HG02004.hp1 HG03239.hp2 HG03927.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0052 a0001c0001t0001g0002 a0001c0001t0001g0052	8	377	0.0212	44	c.-43 others(55): Show c.-4311_-4310insTTAATATATAAATATATTATATATTTATATATTA TATATATATT	RIPK2	ENSG00000104312.8	transcript	ENST00000220751.5	protein_coding		4065		chr8	TogoVar
RIPK4_chr21_41734373_41772052	41736022	A A	ACTTCTTC others(37): Show ACTTCTTCTTCTTCTTCTTCTTCTTCTTCTTTTCTTCTTCTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG02809.hp2 HG02622.hp2 HG02809.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0101 a0001c0002t0004g0103 a0001c0002t0004g0101 a0001c0002t0004g0103	2	256	0.0078	44	c.48 others(55): Show c.4815_*4816insAAGAAGAAGAAGAAAAGAAGAAGAAGAAGAAGAA GAAGAAGAAG	RIPK4	ENSG00000183421.12	transcript	ENST00000332512.8	protein_coding		3350		chr21	TogoVar
RMND5A_chr2_86715291_86783041	86737574	C C	CATATATA others(37): Show CATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0098 a0001c0001t0009g0098	1	99	0.0101	44	c.143 others(61): Show c.143-3333_143-3332insATATATATATATATATATATATATATAT ATATATATATATATAT	RMND5A	ENSG00000153561.13	transcript	ENST00000283632.5	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
RNF11_chr1_51231273_51278447	51234283	T T	TTCTTTTT others(37): Show TTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTTTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0059 a0001c0001t0020g0059	1	200	0.0050	44	c.-24 others(55): Show c.-2474_-2473insTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTTTT TCTTTCTTTC	RNF11	ENSG00000123091.5	transcript	ENST00000242719.4	protein_coding		1989		chr1	TogoVar
RNF141_chr11_10506673_10546187	10539691	C C	CATATATA others(37): Show CATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01975.hp2 HG02273.hp1 others(7): Show HG00639.hp2 HG01975.hp2 HG02273.hp1 HG02896.hp2 HG02897.hp2 HG03654.hp1 HG04199.hp1 NA19054.hp1 NA19078.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0012 a0001c0001t0002 a0001c0001t0004 a0001c0001t0012	a0001c0001t0002g0038 a0001c0001t0002g0204 a0001c0001t0002g0206 others(5): Show a0001c0001t0002g0038 a0001c0001t0002g0204 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0004g0037 a0001c0001t0004g0205 a0001c0001t0012g0209	10	27	0.3704	44	c.-48 others(61): Show c.-48+1430_-48+1431insATATATATATATATATATATATATATAT ATATATATATATATAT	RNF141	ENSG00000110315.7	transcript	ENST00000265981.7	protein_coding	1/5			chr11	TogoVar
RNF144B_chr6_18382350_18473870	18387049	T T	TTGAGAGC others(37): Show TTGAGAGCTGACGAGCTGCTCTGATACAGACAGGGGACGGGGCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	384	0.0026	44	c.-61 others(53): Show c.-618_-617insTGAGAGCTGACGAGCTGCTCTGATACAGACAGGGGA CGGGGCGG	RNF144B	ENSG00000137393.10	transcript	ENST00000259939.4	protein_coding		300		chr6	TogoVar
RNF148_chr7_122696668_122707922	122705957	T T	TATTATAT others(37): Show TATTATATAATATAATATATATTATATTATATAATATAATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG00609.hp2 HG01257.hp2 others(16): Show HG00544.hp1 HG00609.hp2 HG01257.hp2 HG01261.hp1 HG01884.hp2 HG02523.hp1 HG03704.hp1 NA18612.hp1 NA18953.hp2 NA18975.hp2 NA18978.hp2 NA18981.hp1 NA18982.hp1 NA19003.hp1 NA19060.hp2 NA19070.hp1 NA19083.hp1 NA19090.hp2 NA20805.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0009c0015 a0001c0001 a0009c0015	a0001c0001t0001 a0009c0015t0001 a0001c0001t0001 a0009c0015t0001	a0001c0001t0001g0000 a0009c0015t0001g0000 a0001c0001t0001g0000 a0009c0015t0001g0000	19	389	0.0488	44	c.-32 others(55): Show c.-3208_-3207insTATATATTATATTATATAATATAATATATATTAT ATTATATAAT	RNF148	ENSG00000235631.2	transcript	ENST00000434824.2	protein_coding		3036		chr7	TogoVar
RNF148_chr7_122696668_122707922	122705957	T T	TATTATAT others(37): Show TATTATATAATATAATATATTATATATTATATAATATAATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0000 a0001c0011t0001g0000	1	371	0.0027	44	c.-32 others(55): Show c.-3208_-3207insTATATATTATATTATATAATATATAATATATTAT ATTATATAAT	RNF148	ENSG00000235631.2	transcript	ENST00000434824.2	protein_coding		3036		chr7	TogoVar
RNF148_chr7_122696668_122707922	122705958	A A	ATTATATA others(37): Show ATTATATAATATAATATATATTATATTATATAATATAATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp2 NA18980.hp1 HG04204.hp2 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	412	0.0049	44	c.-32 others(55): Show c.-3209_-3208insATATATATTATATTATATAATATAATATATATTA TATTATATAA	RNF148	ENSG00000235631.2	transcript	ENST00000434824.2	protein_coding		3037		chr7	TogoVar
RNF17_chr13_24759169_24884921	24881980	C C	CTATATAG others(37): Show CTATATAGATATATAGATACATCTATATATATAGATACATCTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0138 a0004c0004t0002g0138	1	156	0.0064	44	c.22 others(55): Show c.2254_*2255insTATATAGATATATAGATACATCTATATATATAGA TACATCTATA	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2060		chr13	TogoVar
RNF17_chr13_24759169_24884921	24882133	G G	GATACATC others(37): Show GATACATCTATATAGATAGATATATAGATACATCTATATAGATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0151 a0003c0006t0001g0151	1	67	0.0149	44	c.24 others(55): Show c.2407_*2408insATACATCTATATAGATAGATATATAGATACATCT ATATAGATAT	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2213		chr13	TogoVar
RNF17_chr13_24759169_24884921	24882133	G G	GATATATA others(37): Show GATATATAGATACATCTATATATATAGATACATCTATATAGATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0067 a0001c0002t0001g0067	1	67	0.0149	44	c.24 others(55): Show c.2407_*2408insATATATAGATACATCTATATATATAGATACATCT ATATAGATAT	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2213		chr13	TogoVar
RNF17_chr13_24759169_24884921	24882151	G G	GATACATC others(37): Show GATACATCTATATAGATATATAGATACATCTATATAGATAGATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG01978.hp2 HG02080.hp2 others(12): Show HG00609.hp1 HG01978.hp2 HG02080.hp2 HG02129.hp1 HG02451.hp2 HG02486.hp1 HG02602.hp2 NA18941.hp1 NA18951.hp1 NA18957.hp1 NA18974.hp1 NA18987.hp2 NA18989.hp2 NA19083.hp1 NA20752.hp2	a0002 a0004 a0007 others(1): Show a0002 a0004 a0007 a0013	a0002c0003 a0004c0004 a0007c0014 others(1): Show a0002c0003 a0004c0004 a0007c0014 a0013c0017	a0002c0003t0002 a0004c0004t0002 a0007c0014t0002 others(1): Show a0002c0003t0002 a0004c0004t0002 a0007c0014t0002 a0013c0017t0002	a0002c0003t0002g0330 a0002c0003t0002g0335 a0002c0003t0002g0369 others(12): Show a0002c0003t0002g0330 a0002c0003t0002g0335 a0002c0003t0002g0369 a0002c0003t0002g0371 a0004c0004t0002g0125 a0004c0004t0002g0126 a0004c0004t0002g0129 a0004c0004t0002g0130 a0004c0004t0002g0132 a0004c0004t0002g0164 a0007c0014t0002g0336 a0007c0014t0002g0358 a0007c0014t0002g0361 a0013c0017t0002g0299 a0013c0017t0002g0300	15	86	0.1744	44	c.24 others(55): Show c.2425_*2426insATACATCTATATAGATATATAGATACATCTATAT AGATAGATAT	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2231		chr13	TogoVar
RNF19A_chr8_100252067_100314953	100256511	C C	CAAAAAAA others(37): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0202 a0001c0004t0001g0202	1	120	0.0083	44	c.20 others(55): Show c.2044_*2045insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	RNF19A	ENSG00000034677.13	transcript	ENST00000341084.7	protein_coding		555		chr8	TogoVar
RNF2_chr1_185040558_185107603	185082345	C C	CTTTTTTT others(37): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0197 a0001c0001t0015g0197	1	6	0.1667	44	c.-2- others(59): Show c.-2-5185_-2-5184insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTT	RNF2	ENSG00000121481.11	transcript	ENST00000367510.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
RNGTT_chr6_88604897_88968618	88929910	A A	ATATATAC others(37): Show ATATATACACGTATATACATATGTATACATATGCATATACACACG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	218	0.0046	44	c.175 others(59): Show c.175-687_175-644dupCGTGTGTATATGCATATGTATACATATGTA TATACGTGTATATA	RNGTT	ENSG00000111880.16	transcript	ENST00000369485.9	protein_coding	2/15			chr6	TogoVar
ROBO1_chr3_78592239_79772998	79496387	C C	CATTTTTT others(37): Show CATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0003 a0001c0007t0003g0003	1	9	0.1111	44	c.88+ others(61): Show c.88+93436_88+93437insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAT	ROBO1	ENSG00000169855.21	transcript	ENST00000464233.6	protein_coding	2/30			chr3	TogoVar
ROBO1_chr3_78592239_79772998	79550195	G G	GAAAGAAA others(37): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0036 a0001c0001t0003g0036	1	11	0.0909	44	c.88+ others(61): Show c.88+39628_88+39629insTTTCCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTT	ROBO1	ENSG00000169855.21	transcript	ENST00000464233.6	protein_coding	2/30			chr3	TogoVar
ROBO2_chr3_77035099_77654964	77108165	C C	CATATGTA others(37): Show CATATGTATACACATATGCATATATATGTATACACATATGCATAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02895.hp1 HG03098.hp2 others(2): Show HG02055.hp1 HG02895.hp1 HG03098.hp2 HG03139.hp2 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0012 a0001c0002t0019 a0001c0002t0007 a0001c0002t0012 a0001c0002t0019	a0001c0002t0007g0113 a0001c0002t0007g0115 a0001c0002t0007g0117 others(2): Show a0001c0002t0007g0113 a0001c0002t0007g0115 a0001c0002t0007g0117 a0001c0002t0012g0114 a0001c0002t0019g0111	5	146	0.0342	44	c.388 others(61): Show c.388+9830_388+9873dupGTATACACATATGCATATATATGTATAC ACATATGCATATATAT	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ROCK1_chr18_20941906_21116813	20958948	A A	ATATATTT others(37): Show ATATATTTTATATAATATATATAATATATATATTTTATAAAAAAT	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18959.hp1 NA18968.hp2 others(3): Show NA18957.hp2 NA18959.hp1 NA18968.hp2 NA19011.hp1 NA19065.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0151 a0001c0001t0001g0159 a0001c0001t0001g0161 others(3): Show a0001c0001t0001g0151 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0170 a0001c0001t0005g0131	6	210	0.0286	44	c.351 others(61): Show c.3512+891_3512+892insATTTTTTATAAAATATATATATTATATA TATTATATAAAATATA	ROCK1	ENSG00000067900.9	transcript	ENST00000399799.3	protein_coding	29/32			chr18	TogoVar
ROCK2_chr2_11174759_11349636	11229868	G G	GAACCTAG others(37): Show GAACCTAGTATATAAGTATACTAGTAAATATATACTAGTAAGTAT	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0018 a0002c0002t0003g0018	1	318	0.0031	44	c.724 others(61): Show c.724-2471_724-2470insATACTTACTAGTATATATTTACTAGTAT ACTTATATACTAGGTT	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	5/32			chr2	TogoVar
ROCK2_chr2_11174759_11349636	11296005	G G	GGGGAGAG others(37): Show GGGGAGAGGGGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG02886.hp2 HG01257.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0008 a0001c0001t0007 a0001c0001t0008	a0001c0001t0007g0276 a0001c0001t0008g0210 a0001c0001t0007g0276 a0001c0001t0008g0210	2	47	0.0426	44	c.142 others(61): Show c.142-8270_142-8269insTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCCCCCTCTCCC	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32			chr2	TogoVar
ROR1_chr1_63769017_64186498	64014713	C C	CTATATAT others(37): Show CTATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0051 a0001c0002t0005g0051	1	69	0.0145	44	c.163 others(61): Show c.163+5351_163+5352insTATATATATATATATATATATATATATA TATATATATATATATA	ROR1	ENSG00000185483.13	transcript	ENST00000371079.6	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
RORA_chr15_60483284_61234302	61053848	G G	GATATATA others(37): Show GATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01169.hp2 HG02738.hp2 others(2): Show HG01109.hp2 HG01169.hp2 HG02738.hp2 HG02976.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0002t0021	a0001c0001t0001g0104 a0001c0001t0002g0045 a0001c0001t0002g0068 others(2): Show a0001c0001t0001g0104 a0001c0001t0002g0045 a0001c0001t0002g0068 a0001c0001t0011g0021 a0001c0002t0021g0018	5	11	0.4545	44	c.166 others(65): Show c.166+175204_166+175205insATATATATATATATATATATATAT ATATATATATATATATATAT	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	1/10			chr15	TogoVar
RP2_chrX_46832043_46887358	46847822	G G	GTATATGT others(37): Show GTATATGTGTATATATGTGTGTATATATGTGTATATATGTGTGTA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02630.hp1 HG02257.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0079 a0001c0001t0002g0080	2	264	0.0076	44	c.103 others(61): Show c.103-5611_103-5610insATATATGTGTATATATGTGTGTATATAT GTGTATATATGTGTGT	RP2	ENSG00000102218.6	transcript	ENST00000218340.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
RPA4_chrX_96878908_96890467	96888571	A A	ATATATAT others(37): Show ATATATATATCTATATATATCTATATATATACAGATATATATATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0000 a0002c0002t0006g0000	1	95	0.0105	44	c.34 others(55): Show c.3475_*3476insTATATATATCTATATATATCTATATATATACAGA TATATATATC	RPA4	ENSG00000204086.4	transcript	ENST00000373040.4	protein_coding		3105		chrX	TogoVar
RPAP2_chr1_92294059_92407056	92305432	C C	CAAAAAAA others(37): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0090 a0001c0001t0003g0090	1	51	0.0196	44	c.399 others(61): Show c.399+1102_399+1103insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAA	RPAP2	ENSG00000122484.9	transcript	ENST00000610020.2	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
RPH3A_chr12_112786748_112903881	112791867	G G	GGAGAGAG others(37): Show GGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00621.hp1 HG01255.hp2 HG01934.hp1 others(4): Show HG00621.hp1 HG01255.hp2 HG01934.hp1 HG02572.hp1 HG02615.hp1 NA19007.hp2 NA19081.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0004	a0001c0001t0012 a0001c0001t0176 a0001c0002t0012 others(2): Show a0001c0001t0012 a0001c0001t0176 a0001c0002t0012 a0001c0003t0043 a0002c0004t0177	a0001c0001t0012g0138 a0001c0001t0176g0176 a0001c0002t0012g0155 others(4): Show a0001c0001t0012g0138 a0001c0001t0176g0176 a0001c0002t0012g0155 a0001c0002t0012g0192 a0001c0003t0043g0088 a0001c0003t0043g0186 a0002c0004t0177g0120	7	13	0.5385	44	c.-24 others(53): Show c.-247_-246insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGA	RPH3A	ENSG00000089169.15	transcript	ENST00000389385.9	protein_coding	1/22	36413	INFO_REALIGN_3_PRIME	chr12	TogoVar
RPH3A_chr12_112786748_112903881	112791867	G G	GGAGAGAG others(37): Show GGAGAGAGATAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0195 a0003c0005t0195	a0003c0005t0195g0253 a0003c0005t0195g0253	1	7	0.1429	44	c.-27 others(53): Show c.-277_-276insTAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGA	RPH3A	ENSG00000089169.15	transcript	ENST00000389385.9	protein_coding	1/22	36443	INFO_REALIGN_3_PRIME	chr12	TogoVar
RPL23_chr17_38842860_38858721	38842871	G G	GTCTGTCT others(37): Show GTCTGTCTGTCTGTCTATCTATCTATCTATCTATCTATCTATCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp1 NA19086.hp1 HG02071.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0001 a0001c0001t0005g0005 a0001c0001t0001g0001 a0001c0001t0005g0005	2	255	0.0078	44	c.72 others(55): Show c.7260_*7261insTAGATAGATAGATAGATAGATAGATAGATAGACA GACAGACAGA	RPL23	ENSG00000125691.14	transcript	ENST00000479035.7	protein_coding		4988		chr17	TogoVar
RPL30_chr8_98036721_98050545	98037386	G G	GTGTGTGT others(37): Show GTGTGTGTGTGTGTGTATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	317	0.0032	44	c.44 others(55): Show c.4414_*4415insTATATATATATATATATATATATATATATACACA CACACACACA	RPL30	ENSG00000156482.11	transcript	ENST00000287038.8	protein_coding		4334		chr8	TogoVar
RPL30_chr8_98036721_98050545	98037386	G G	GTGTGTGT others(37): Show GTGTGTGTGTGTGTGTGTGTGTGTATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	317	0.0032	44	c.44 others(55): Show c.4414_*4415insTATATATATATATATATATATACACACACACACA CACACACACA	RPL30	ENSG00000156482.11	transcript	ENST00000287038.8	protein_coding		4334		chr8	TogoVar
RPL36_chr19_5685295_5696875	5694638	C C	CGGGCGCG others(37): Show CGGGCGCGGGGTGGTGGGGTGATGGGCGCGGGGTGGTGGGGTGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp2 HG03486.hp2 HG03831.hp1 HG02738.hp2 HG03486.hp2 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	379	0.0079	44	c.30 others(55): Show c.3017_*3018insGGGCGCGGGGTGGTGGGGTGATGGGCGCGGGGTG GTGGGGTGAT	RPL36	ENSG00000130255.13	transcript	ENST00000347512.8	protein_coding		2764		chr19	TogoVar
RPL38_chr17_74198678_74215655	74199262	G G	GAGAGAGA others(37): Show GAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0002 a0001c0001t0004g0002	1	370	0.0027	44	c.-45 others(55): Show c.-4522_-4521insAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAA	RPL38	ENSG00000172809.13	transcript	ENST00000311111.11	protein_coding		4415		chr17	TogoVar
RPL38_chr17_74198678_74215655	74199262	G G	GAGAGAGA others(37): Show GAGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 NA18965.hp2 HG00544.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0002 a0001c0001t0004g0002 a0001c0001t0002g0002 a0001c0001t0004g0002	2	371	0.0054	44	c.-45 others(55): Show c.-4522_-4521insAGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAG AAAGAAAGAA	RPL38	ENSG00000172809.13	transcript	ENST00000311111.11	protein_coding		4415		chr17	TogoVar
RPL5_chr1_92827040_92846924	92846819	A A	ATATATAT others(37): Show ATATATATGTGTGTATATATATATATATATATATACACACACACG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	316	0.0032	44	c.49 others(55): Show c.4954_*4955insTATATATGTGTGTATATATATATATATATATATA CACACACACG	RPL5	ENSG00000122406.14	transcript	ENST00000370321.8	protein_coding		4896		chr1	TogoVar
RPL5_chr1_92827040_92846924	92846848	T T	TACACACA others(37): Show TACACACACACGTATATATATATATACACGTATATATATATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18962.hp2 NA18979.hp2 NA18962.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	2	94	0.0213	44	c.49 others(55): Show c.4983_*4984insACACACACACGTATATATATATATACACGTATAT ATATATATAC	RPL5	ENSG00000122406.14	transcript	ENST00000370321.8	protein_coding		4925		chr1	TogoVar
RPRD1A_chr18_35984824_36072559	36008577	G G	GTGTGTAT others(37): Show GTGTGTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG04115.hp2 NA19062.hp1 NA19064.hp1 HG04115.hp2 NA19062.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0203 a0001c0001t0004g0214 a0001c0001t0004g0245 a0001c0001t0001g0203 a0001c0001t0004g0214 a0001c0001t0004g0245	3	10	0.3000	44	c.790 others(63): Show c.790-15278_790-15277insTATATATATATATATATATATATATA TATATATATATATACACA	RPRD1A	ENSG00000141425.18	transcript	ENST00000399022.9	protein_coding	6/6			chr18	TogoVar
RPRD1A_chr18_35984824_36072559	36008577	G G	GTGTGTAT others(37): Show GTGTGTATATGTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01496.hp2 HG02165.hp2 others(3): Show HG01099.hp1 HG01496.hp2 HG02165.hp2 NA18986.hp1 NA18989.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0109 a0001c0001t0001g0115 others(2): Show a0001c0001t0001g0003 a0001c0001t0001g0109 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118	6	13	0.4615	44	c.790 others(63): Show c.790-15278_790-15277insTATATATATATATATATATATATATA TATATATACATATACACA	RPRD1A	ENSG00000141425.18	transcript	ENST00000399022.9	protein_coding	6/6			chr18	TogoVar
RPRD1A_chr18_35984824_36072559	36008577	G G	GTGTGTGT others(37): Show GTGTGTGTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA19086.hp1 NA18955.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0216 a0001c0001t0004g0249 a0001c0001t0001g0216 a0001c0001t0004g0249	2	9	0.2222	44	c.790 others(63): Show c.790-15278_790-15277insTATATATATATATATATATATATATA TATATATATATACACACA	RPRD1A	ENSG00000141425.18	transcript	ENST00000399022.9	protein_coding	6/6			chr18	TogoVar
RPRD1A_chr18_35984824_36072559	36008577	G G	GTGTGTGT others(37): Show GTGTGTGTGTGTGTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	8	0.1250	44	c.790 others(63): Show c.790-15278_790-15277insTATATATATATATATATATATATATA TATATACACACACACACA	RPRD1A	ENSG00000141425.18	transcript	ENST00000399022.9	protein_coding	6/6			chr18	TogoVar
RPS6KA3_chrX_20144911_20271909	20268816	T T	TAAAAAAA others(37): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0145 a0001c0001t0024g0145	1	210	0.0048	44	c.-21 others(55): Show c.-2185_-2184insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	RPS6KA3	ENSG00000177189.14	transcript	ENST00000379565.9	protein_coding		1908		chrX	TogoVar
RPS6KA6_chrX_84053350_84193199	84140758	C C	CATATATA others(37): Show CATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0064 a0002c0002t0003g0064	1	208	0.0048	44	c.501 others(61): Show c.501+4719_501+4720insATATATATATATATATATATATATATAT ATATATATATATATAT	RPS6KA6	ENSG00000072133.12	transcript	ENST00000262752.5	protein_coding	6/21			chrX	TogoVar
RPS6KC1_chr1_213046241_213279774	213118021	C C	CAAAAAAA others(37): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02698.hp1 NA19005.hp2 NA19091.hp1 HG02698.hp1 NA19005.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0062 a0001c0001t0001g0300 a0001c0001t0001g0301	3	99	0.0303	44	c.472 others(59): Show c.472+629_472+630insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAA	RPS6KC1	ENSG00000136643.12	transcript	ENST00000366960.8	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
RPTOR_chr17_80539838_80971368	80665523	C C	CCTTTCCT others(37): Show CCTTTCCTTTCCTTTCCTGTCCTTTCCTTTCATGTCCTTTCCTTT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0031 a0001c0016t0031	a0001c0016t0031g0010 a0001c0016t0031g0011 a0001c0016t0031g0010 a0001c0016t0031g0011	2	100	0.0200	44	c.348 others(63): Show c.348+21714_348+21715insTTTCCTTTCCTTTCCTGTCCTTTCCT TTCATGTCCTTTCCTTTC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80665523	C C	CCTTTCCT others(37): Show CCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCATGTCCTTTCCTTT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0075 a0001c0005t0075	a0001c0005t0075g0008 a0001c0005t0075g0008	1	99	0.0101	44	c.348 others(63): Show c.348+21714_348+21715insTTTCCTTTCCTTTCCTTTCCTTTCCT TTCATGTCCTTTCCTTTC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RRAGD_chr6_89359616_89417273	89382400	A A	AATATATA others(37): Show AATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0128 a0001c0001t0002g0128	1	111	0.0090	44	c.445 others(61): Show c.445-2034_445-2033insATATATATATATATATATATATATATAT ATATATATATATATAT	RRAGD	ENSG00000025039.15	transcript	ENST00000369415.9	protein_coding	2/6			chr6	TogoVar
RSF1_chr11_77655009_77825722	77686408	C C	CAAAAAAA others(37): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0242 a0001c0001t0009g0242	1	74	0.0135	44	c.290 others(63): Show c.2901-1250_2901-1249insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTT	RSF1	ENSG00000048649.14	transcript	ENST00000308488.11	protein_coding	9/15			chr11	TogoVar

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