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
RIMS1_chr6_71881550_72408145	72092291	C C	CCCTCCCT others(33): Show CCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp2 HG01192.hp2 HG01168.hp1 HG01169.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0020 a0001c0001t0002 a0001c0001t0020	a0001c0001t0002g0129 a0001c0001t0002g0131 a0001c0001t0020g0130 a0001c0001t0002g0129 a0001c0001t0002g0131 a0001c0001t0020g0130	3	62	0.0484	40	c.246 others(57): Show c.246-4655_246-4654insCCCTCCCTCCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCT	RIMS1	ENSG00000079841.20	transcript	ENST00000521978.6	protein_coding	2/33		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIMS1_chr6_71881550_72408145	72092291	C C	CCCTCCCT others(33): Show CCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG04204.hp2 NA19085.hp1 HG02602.hp1 HG04204.hp2 NA19085.hp1	a0001 a0005 a0001 a0005	a0001c0003 a0005c0021 a0001c0003 a0005c0021	a0001c0003t0004 a0001c0003t0010 a0005c0021t0007 a0001c0003t0004 a0001c0003t0010 a0005c0021t0007	a0001c0003t0004g0124 a0001c0003t0010g0062 a0005c0021t0007g0006 a0001c0003t0004g0124 a0001c0003t0010g0062 a0005c0021t0007g0006	3	62	0.0484	40	c.246 others(57): Show c.246-4655_246-4654insCCCTCCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCT	RIMS1	ENSG00000079841.20	transcript	ENST00000521978.6	protein_coding	2/33		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIMS2_chr8_103495610_104259430	103813389	C C	CTTCTTTC others(33): Show CTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0169 a0001c0001t0006g0169	1	132	0.0076	40	c.830 others(59): Show c.830+46878_830+46879insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTT	RIMS2	ENSG00000176406.25	transcript	ENST00000696799.1	protein_coding	6/29		INFO_REALIGN_3_PRIME	chr8	TogoVar
RIMS2_chr8_103495610_104259430	103876875	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0128 a0001c0007t0001g0128	1	151	0.0066	40	c.831 others(57): Show c.831-8388_831-8387insTATACATATATATATATATATATATATA TATATATATATA	RIMS2	ENSG00000176406.25	transcript	ENST00000696799.1	protein_coding	6/29		INFO_REALIGN_3_PRIME	chr8	TogoVar
RIMS2_chr8_103495610_104259430	104100834	A A	ATAATATA others(33): Show ATAATATATATGTATTATATATGTAATATATATTATATATG	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0008 a0003c0009t0008	a0003c0009t0008g0144 a0003c0009t0008g0144	1	170	0.0059	40	c.386 others(59): Show c.3866+7202_3866+7241dupGTATTATATATGTAATATATATTATA TATGTAATATATAT	RIMS2	ENSG00000176406.25	transcript	ENST00000696799.1	protein_coding	24/29		INFO_REALIGN_3_PRIME	chr8	TogoVar
RIN2_chr20_19753258_20007456	19923469	T T	TAAAATAA others(33): Show TAAAATAAAATAAAATAAATAAAATAAAATAAAATAAAATA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0265 a0001c0001t0002g0265	1	266	0.0038	40	c.58- others(57): Show c.58-11627_58-11626insATAAAATAAAATAAATAAAATAAAATAA AATAAAATAAAA	RIN2	ENSG00000132669.14	transcript	ENST00000255006.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
RIN3_chr14_92508781_92693994	92666038	A A	ACCTCCAC others(33): Show ACCTCCACCACTGACCTACTTCCTCCACCACTGACCTACTT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02895.hp1 HG02896.hp1 HG02622.hp2 HG02895.hp1 HG02896.hp1	a0002 a0005 a0002 a0005	a0002c0030 a0005c0027 a0002c0030 a0005c0027	a0002c0030t0001 a0005c0027t0001 a0002c0030t0001 a0005c0027t0001	a0002c0030t0001g0189 a0005c0027t0001g0201 a0005c0027t0001g0203 a0002c0030t0001g0189 a0005c0027t0001g0201 a0005c0027t0001g0203	3	322	0.0093	40	c.233 others(59): Show c.2335+6603_2335+6604insCTACTTCCTCCACCACTGACCTACTT CCTCCACCACTGAC	RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
RIOK3_chr18_23448287_23488140	23451472	C C	CAAAAGAA others(33): Show CAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp1 HG01258.hp1 HG02040.hp1 HG01256.hp1 HG01258.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0142 a0001c0001t0001g0014 a0001c0001t0001g0142	3	64	0.0469	40	c.-19 others(51): Show c.-1968_-1967insAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAG	RIOK3	ENSG00000101782.15	transcript	ENST00000339486.8	protein_coding		1814		chr18	TogoVar
RIOX2_chr3_97936818_97977431	97946586	G G	GTATATAT others(33): Show GTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0174 a0003c0003t0001g0174	1	116	0.0086	40	c.115 others(57): Show c.1150-700_1150-699insTATATATATATATATATATATATATATA TATATATATATA	RIOX2	ENSG00000170854.18	transcript	ENST00000394198.7	protein_coding	8/9			chr3	TogoVar
RIPK2_chr8_89752816_89796064	89753765	A A	ATATATTT others(33): Show ATATATTTATATATTATATATATATTTATATATATATTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	233	0.0043	40	c.-42 others(51): Show c.-4296_-4295insTATATTTATATATTATATATATATTTATATATAT ATTTTT	RIPK2	ENSG00000104312.8	transcript	ENST00000220751.5	protein_coding		4050		chr8	TogoVar
RIPK2_chr8_89752816_89796064	89753834	T T	TAATATAT others(33): Show TAATATATATATAAATATATATATTTATATATACATATTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 NA19030.hp2 NA20129.hp1 HG01167.hp2 NA19030.hp2 NA20129.hp1	a0002 a0004 a0002 a0004	a0002c0004 a0004c0007 a0002c0004 a0004c0007	a0002c0004t0001 a0004c0007t0003 a0002c0004t0001 a0004c0007t0003	a0002c0004t0001g0021 a0004c0007t0003g0070 a0004c0007t0003g0071 a0002c0004t0001g0021 a0004c0007t0003g0070 a0004c0007t0003g0071	3	195	0.0154	40	c.-42 others(51): Show c.-4227_-4226insAATATATATATAAATATATATATTTATATATACA TATTTA	RIPK2	ENSG00000104312.8	transcript	ENST00000220751.5	protein_coding		3981		chr8	TogoVar
RIT2_chr18_42738227_43120685	42809826	T T	TATATATA others(33): Show TATATATATAATTTGTATATATGTTATATATATTATATATA	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	210	0.0048	40	c.427 others(59): Show c.427-66146_427-66107dupTATATATAATATATATAACATATATA CAAATTATATATAT	RIT2	ENSG00000152214.14	transcript	ENST00000326695.10	protein_coding	4/4			chr18	TogoVar
RMND5A_chr2_86715291_86783041	86737574	C C	CATATATA others(33): Show CATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02976.hp2 HG02818.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0015 a0001c0001t0009 a0001c0001t0015	a0001c0001t0009g0100 a0001c0001t0015g0099 a0001c0001t0009g0100 a0001c0001t0015g0099	2	100	0.0200	40	c.143 others(57): Show c.143-3333_143-3332insATATATATATATATATATATATATATAT ATATATATATAT	RMND5A	ENSG00000153561.13	transcript	ENST00000283632.5	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
RNASE2_chr14_20950487_20961436	20951885	A A	AAAGAAAG others(33): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGGAAGGAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	142	0.0070	40	c.-36 others(51): Show c.-3657_-3656insAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGGAA GGAAGG	RNASE2	ENSG00000169385.3	transcript	ENST00000304625.3	protein_coding		3601		chr14	TogoVar
RNASE2_chr14_20950487_20961436	20951885	A A	AAAGAAAG others(33): Show AAAGAAAGAAAGAAAGAAAGGAAGGAAGGAAGGAAGGAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	142	0.0070	40	c.-36 others(51): Show c.-3657_-3656insAAGAAAGAAAGAAAGAAAGGAAGGAAGGAAGGAA GGAAGG	RNASE2	ENSG00000169385.3	transcript	ENST00000304625.3	protein_coding		3601		chr14	TogoVar
RNASE8_chr14_21052822_21063455	21057618	C C	CATATATA others(33): Show CATATATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 NA18961.hp1 HG02809.hp2 NA18961.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0000 a0002c0002t0002g0000	2	102	0.0196	40	c.-27 others(49): Show c.-275_-274insATATATATATATATATATATATATATATATATATAT ATAT	RNASE8	ENSG00000173431.2	transcript	ENST00000308227.2	protein_coding		203		chr14	TogoVar
RNF11_chr1_51231273_51278447	51234283	T T	TTCTTTTT others(33): Show TTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0039 a0001c0001t0008g0039	1	200	0.0050	40	c.-24 others(51): Show c.-2474_-2473insTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTC	RNF11	ENSG00000123091.5	transcript	ENST00000242719.4	protein_coding		1989		chr1	TogoVar
RNF121_chr11_71924046_72002597	71942803	T T	TATATATA others(33): Show TATATATATATATATAGATATAGATATATATATGTACACAA	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0225 a0001c0002t0006g0225	1	40	0.0250	40	c.63+ others(57): Show c.63+13680_63+13681insTATATATATATATAGATATAGATATATA TATGTACACAAA	RNF121	ENSG00000137522.18	transcript	ENST00000361756.8	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
RNF130_chr5_179950067_180076759	179998857	T T	TTATATAT others(33): Show TTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0165 a0001c0003t0001g0165	1	228	0.0044	40	c.693 others(59): Show c.693+14203_693+14204insTATATATATATATATATATATATATA TATATATATATATA	RNF130	ENSG00000113269.14	transcript	ENST00000521389.6	protein_coding	3/8			chr5	TogoVar
RNF135_chr17_30966039_31004911	30983353	A A	ATATATAT others(33): Show ATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0072 a0003c0003t0001g0072	1	148	0.0068	40	c.373 others(57): Show c.373-1263_373-1262insATATATATATATTTTTTTTTTTTTTTTT TTTTTTTTTTTT	RNF135	ENSG00000181481.14	transcript	ENST00000328381.10	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF139_chr8_124469880_124493618	124489658	C C	CCCACCTG others(33): Show CCCACCTGGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0001 a0005c0004t0001	a0005c0004t0001g0008 a0005c0004t0001g0008	1	406	0.0025	40	c.20 others(51): Show c.2014_*2015insCCACCTGGGCCTCCCAAAGTGCTGGGATTACAGG TGTGAG	RNF139	ENSG00000170881.5	transcript	ENST00000303545.4	protein_coding		1041		chr8	TogoVar
RNF141_chr11_10506673_10546187	10539687	C C	CATATATA others(33): Show CATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03209.hp2 NA19030.hp1 HG03195.hp1 HG03209.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0053 a0001c0001t0006g0054 a0001c0001t0006g0055 a0001c0001t0006g0053 a0001c0001t0006g0054 a0001c0001t0006g0055	3	357	0.0084	40	c.-48 others(57): Show c.-48+1434_-48+1435insATATATATATATATATATATATATATAT ATATATATATAT	RNF141	ENSG00000110315.7	transcript	ENST00000265981.7	protein_coding	1/5			chr11	TogoVar
RNF141_chr11_10506673_10546187	10539691	C C	CATATATA others(33): Show CATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01258.hp1 HG01981.hp2 others(12): Show HG00738.hp2 HG01258.hp1 HG01981.hp2 HG01993.hp1 HG02135.hp1 HG02300.hp1 HG02630.hp1 HG02886.hp1 HG02922.hp2 HG03098.hp2 HG03471.hp1 HG03834.hp1 NA18990.hp1 NA19011.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0023 a0001c0001t0002 a0001c0001t0004 a0001c0001t0023	a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0220 others(10): Show a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0004g0214 a0001c0001t0004g0215 a0001c0001t0004g0216 a0001c0001t0004g0218 a0001c0001t0004g0219 a0001c0001t0023g0217	15	32	0.4688	40	c.-48 others(57): Show c.-48+1430_-48+1431insATATATATATATATATATATATATATAT ATATATATATAT	RNF141	ENSG00000110315.7	transcript	ENST00000265981.7	protein_coding	1/5			chr11	TogoVar
RNF151_chr16_1961856_1973949	1962059	A A	AACACGCT others(33): Show AACACGCTTAATTCACTTTATTTTTCTTGTATAAAAACCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	430	0.0023	40	c.-48 others(51): Show c.-4823_-4822insACACGCTTAATTCACTTTATTTTTCTTGTATAAA AACCCT	RNF151	ENSG00000179580.10	transcript	ENST00000569714.6	protein_coding		4796		chr16	TogoVar
RNF157_chr17_76137474_76245493	76182760	C C	CATATATA others(33): Show CATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA19240.hp2 NA18522.hp1 NA19240.hp2	a0001 a0008 a0001 a0008	a0001c0005 a0008c0017 a0001c0005 a0008c0017	a0001c0005t0008 a0008c0017t0002 a0001c0005t0008 a0008c0017t0002	a0001c0005t0008g0197 a0008c0017t0002g0150 a0001c0005t0008g0197 a0008c0017t0002g0150	2	96	0.0208	40	c.208 others(57): Show c.208-8971_208-8970insATATATATATATATATATATATATATAT ATATATATATAT	RNF157	ENSG00000141576.16	transcript	ENST00000269391.11	protein_coding	2/18			chr17	TogoVar
RNF17_chr13_24759169_24884921	24881881	G G	GATATATA others(33): Show GATATATAGATACATCTATATAGATATATAGATACATCTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0141 a0001c0008t0001g0141	1	410	0.0024	40	c.21 others(51): Show c.2155_*2156insATATATAGATACATCTATATAGATATATAGATAC ATCTAT	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		1961		chr13	TogoVar
RNF17_chr13_24759169_24884921	24881903	G G	GATATATA others(33): Show GATATATAGATACCTCTATATAGATATATAGATACATCTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp1 NA18959.hp2 NA19091.hp1 HG02040.hp1 NA18959.hp2 NA19091.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0109 a0004c0004t0002g0112 a0004c0004t0002g0157 a0004c0004t0002g0109 a0004c0004t0002g0112 a0004c0004t0002g0157	3	399	0.0075	40	c.21 others(51): Show c.2177_*2178insATATATAGATACCTCTATATAGATATATAGATAC ATCTAT	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		1983		chr13	TogoVar
RNF17_chr13_24759169_24884921	24882049	G G	GATATATA others(33): Show GATATATAGATACATCTATATAGATATATAGATACATCTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0092 a0001c0008t0001g0092	1	409	0.0024	40	c.23 others(51): Show c.2323_*2324insATATATAGATACATCTATATAGATATATAGATAC ATCTAT	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2129		chr13	TogoVar
RNF17_chr13_24759169_24884921	24882089	T T	TATAGATA others(33): Show TATAGATACATCTATATAGATATATAGATACATCTATGTAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0391 a0002c0003t0001g0391	1	189	0.0053	40	c.23 others(51): Show c.2363_*2364insATAGATACATCTATATAGATATATAGATACATCT ATGTAG	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2169		chr13	TogoVar
RNF17_chr13_24759169_24884921	24882089	T T	TATAGATA others(33): Show TATAGATATATAGATACATCTATATAGATACATCTATATAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01109.hp1 others(7): Show HG01070.hp2 HG01071.hp2 HG01109.hp1 HG01361.hp1 HG02280.hp1 HG02602.hp1 HG02683.hp2 HG02738.hp2 HG03490.hp2 HG03710.hp2	a0002 a0006 a0002 a0006	a0002c0003 a0006c0009 a0002c0003 a0006c0009	a0002c0003t0001 a0006c0009t0002 a0002c0003t0001 a0006c0009t0002	a0002c0003t0001g0328 a0002c0003t0001g0359 a0002c0003t0001g0360 others(7): Show a0002c0003t0001g0328 a0002c0003t0001g0359 a0002c0003t0001g0360 a0002c0003t0001g0364 a0002c0003t0001g0365 a0002c0003t0001g0366 a0002c0003t0001g0370 a0002c0003t0001g0388 a0006c0009t0002g0311 a0006c0009t0002g0314	10	198	0.0505	40	c.23 others(51): Show c.2363_*2364insATAGATATATAGATACATCTATATAGATACATCT ATATAG	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2169		chr13	TogoVar
RNF17_chr13_24759169_24884921	24882133	G G	GATACATC others(33): Show GATACATCTATATAGATATATAGATACATCTATGTAGATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18960.hp2 NA18967.hp1 NA18979.hp2 others(4): Show NA18960.hp2 NA18967.hp1 NA18979.hp2 NA18984.hp2 NA18986.hp1 NA19000.hp1 NA19055.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0327 a0002c0003t0001g0337 a0002c0003t0001g0353 others(4): Show a0002c0003t0001g0327 a0002c0003t0001g0337 a0002c0003t0001g0353 a0002c0003t0001g0354 a0002c0003t0001g0355 a0002c0003t0001g0356 a0002c0003t0001g0357	7	73	0.0959	40	c.24 others(51): Show c.2407_*2408insATACATCTATATAGATATATAGATACATCTATGT AGATAT	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2213		chr13	TogoVar
RNF17_chr13_24759169_24884921	24882133	G G	GATATATA others(33): Show GATATATAGATACATCTATATATATAGATACATCTATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG01123.hp1 others(12): Show HG00280.hp1 HG00408.hp2 HG01123.hp1 HG02027.hp2 HG02698.hp2 HG03017.hp2 HG03688.hp2 HG03704.hp2 NA18946.hp1 NA18948.hp1 NA18974.hp2 NA18990.hp1 NA18998.hp1 NA18999.hp1 NA19086.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0049 a0001c0002t0001g0051 others(12): Show a0001c0002t0001g0002 a0001c0002t0001g0049 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0054 a0001c0002t0001g0058 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0078 a0001c0002t0001g0081 a0001c0002t0001g0104 a0001c0002t0001g0108 a0001c0002t0001g0256	15	81	0.1852	40	c.24 others(51): Show c.2407_*2408insATATATAGATACATCTATATATATAGATACATCT ATATAT	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2213		chr13	TogoVar
RNF17_chr13_24759169_24884921	24882169	G G	GATATATA others(33): Show GATATATAGATACATCTATATAGATACATCTATATAGATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0319 a0001c0002t0001g0319	1	82	0.0122	40	c.24 others(51): Show c.2443_*2444insATATATAGATACATCTATATAGATACATCTATAT AGATAT	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2249		chr13	TogoVar
RNF17_chr13_24759169_24884921	24882233	G G	GATATATA others(33): Show GATATATAGATACATCTATATAGATATATAGATACATCTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp1 HG02615.hp2 HG03927.hp2 HG01934.hp1 HG02615.hp2 HG03927.hp2	a0002 a0003 a0002 a0003	a0002c0003 a0003c0006 a0002c0003 a0003c0006	a0002c0003t0001 a0003c0006t0001 a0002c0003t0001 a0003c0006t0001	a0002c0003t0001g0340 a0003c0006t0001g0091 a0003c0006t0001g0168 a0002c0003t0001g0340 a0003c0006t0001g0091 a0003c0006t0001g0168	3	411	0.0073	40	c.25 others(51): Show c.2507_*2508insATATATAGATACATCTATATAGATATATAGATAC ATCTAT	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2313		chr13	TogoVar
RNF212B_chr14_23232936_23278477	23272120	A A	ATTTTTTG others(33): Show ATTTTTTGAAAATGTGGGCCAGGCGTGGTGGCTCATGCCTG	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0240	1	366	0.0027	40	c.835 others(55): Show c.835-701_835-662dupTTTTTGAAAATGTGGGCCAGGCGTGGTGGC TCATGCCTGT	RNF212B	ENSG00000215277.9	transcript	ENST00000430154.7	protein_coding	14/14		INFO_REALIGN_3_PRIME	chr14	TogoVar
RNF212B_chr14_23232936_23278477	23278351	T T	TGTGTGTG others(33): Show TGTGTGTGTGCATTTTTGTTTTTGTTTTTTCAAGAGACAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	366	0.0027	40	c.54 others(51): Show c.5460_*5461insGTGTGTGTGCATTTTTGTTTTTGTTTTTTCAAGA GACAGG	RNF212B	ENSG00000215277.9	transcript	ENST00000430154.7	protein_coding		4875		chr14	TogoVar
RNF213_chr17_80255852_80403794	80355460	A A	AAGCGGGG others(33): Show AAGCGGGGTGAATGGGAATGGGGGCTTACAGGGGAAGAAGT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0025 a0025	a0025c0088 a0025c0088	a0025c0088t0011 a0025c0088t0011	a0025c0088t0011g0165 a0025c0088t0011g0165	1	265	0.0038	40	c.108 others(59): Show c.10862+884_10862+885insAGCGGGGTGAATGGGAATGGGGGCTT ACAGGGGAAGAAGT	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	36/67			chr17	TogoVar
RNF214_chr11_117227671_117291454	117251251	C C	CCCCACCT others(33): Show CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGG	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG03041.hp2 HG01070.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0162 a0001c0001t0001g0019 a0001c0001t0001g0162	2	162	0.0123	40	c.959 others(57): Show c.959+4303_959+4304insCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCAGGGG	RNF214	ENSG00000167257.11	transcript	ENST00000300650.9	protein_coding	6/14			chr11	TogoVar
RNF216_chr7_5615047_5786663	5768346	T T	TACACACA others(33): Show TACACACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03540.hp2 NA20300.hp1 HG02280.hp2 HG03540.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0002 a0001c0001t0013 a0001c0008t0007 a0001c0001t0002 a0001c0001t0013 a0001c0008t0007	a0001c0001t0002g0265 a0001c0001t0013g0245 a0001c0008t0007g0241 a0001c0001t0002g0265 a0001c0001t0013g0245 a0001c0008t0007g0241	3	26	0.1154	40	c.-69 others(57): Show c.-69-7248_-69-7209dupGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGT	RNF216	ENSG00000011275.19	transcript	ENST00000389902.8	protein_coding	1/16			chr7	TogoVar
RNF222_chr17_8385702_8402827	8401514	T T	TTCTTGTT others(33): Show TTCTTGTTTTCTAATATAAATAATAAAATTAATTAAATTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0003 a0005c0006t0003	a0005c0006t0003g0079 a0005c0006t0003g0079	1	434	0.0023	40	c.-39 others(51): Show c.-3998_-3997insTAAATTTAATTAATTTTATTATTTATATTAGAAA ACAAGA	RNF222	ENSG00000189051.6	transcript	ENST00000399398.3	protein_coding		3688		chr17	TogoVar
RNF2_chr1_185040558_185107603	185082345	C C	CTTTTTTT others(33): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0272 a0001c0001t0004g0272	1	6	0.1667	40	c.-2- others(55): Show c.-2-5185_-2-5184insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	RNF2	ENSG00000121481.11	transcript	ENST00000367510.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
RNGTT_chr6_88604897_88968618	88930040	G G	GCATATAT others(33): Show GCATATATACATATACATGTATATGCATATGTATACATATA	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0209 a0001c0001t0003g0209	1	213	0.0047	40	c.175 others(55): Show c.175-813_175-774dupTATATGTATACATATGCATATACATGTATA TGTATATATG	RNGTT	ENSG00000111880.16	transcript	ENST00000369485.9	protein_coding	2/15			chr6	TogoVar
ROBO1_chr3_78592239_79772998	78718844	G G	GAGGGAGA others(33): Show GAGGGAGAGAGGGAGGGAGGGAGGCAGGGAGGGAGGGAGGA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01243.hp1 HG01884.hp2 others(9): Show HG01109.hp1 HG01243.hp1 HG01884.hp2 HG02055.hp1 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02717.hp1 HG03139.hp2 HG03486.hp1 HG03490.hp2 NA19043.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0002 a0001c0003 a0002c0004 others(2): Show a0001c0002 a0001c0003 a0002c0004 a0003c0009 a0004c0010	a0001c0002t0001 a0001c0002t0004 a0001c0002t0013 others(8): Show a0001c0002t0001 a0001c0002t0004 a0001c0002t0013 a0001c0002t0016 a0001c0003t0001 a0001c0003t0002 a0001c0003t0006 a0002c0004t0001 a0002c0004t0007 a0003c0009t0017 a0004c0010t0002	a0001c0002t0001g0028 a0001c0002t0004g0021 a0001c0002t0013g0008 others(9): Show a0001c0002t0001g0028 a0001c0002t0004g0021 a0001c0002t0013g0008 a0001c0002t0016g0044 a0001c0003t0001g0023 a0001c0003t0002g0033 a0001c0003t0006g0020 a0002c0004t0001g0015 a0002c0004t0007g0009 a0002c0004t0007g0010 a0003c0009t0017g0042 a0004c0010t0002g0031	12	32	0.3750	40	c.658 others(55): Show c.658-962_658-961insTCCTCCCTCCCTCCCTGCCTCCCTCCCTCC CTCTCTCCCT	ROBO1	ENSG00000169855.21	transcript	ENST00000464233.6	protein_coding	5/30			chr3	TogoVar
ROBO1_chr3_78592239_79772998	79550195	G G	GAAAGAAA others(33): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAAGAAA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0034 a0001c0001t0010g0034	1	11	0.0909	40	c.88+ others(57): Show c.88+39628_88+39629insTTTCTTTCCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTT	ROBO1	ENSG00000169855.21	transcript	ENST00000464233.6	protein_coding	2/30			chr3	TogoVar
ROBO1_chr3_78592239_79772998	79771158	A A	ACATATAT others(33): Show ACATATATATGTATATATACACATATATACACACATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02451.hp1 HG02717.hp1 others(1): Show HG02055.hp2 HG02451.hp1 HG02717.hp1 HG03579.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0008 others(1): Show a0001c0001 a0001c0002 a0001c0008 a0003c0009	a0001c0001t0014 a0001c0002t0016 a0001c0008t0015 others(1): Show a0001c0001t0014 a0001c0002t0016 a0001c0008t0015 a0003c0009t0017	a0001c0001t0014g0041 a0001c0002t0016g0044 a0001c0008t0015g0043 others(1): Show a0001c0001t0014g0041 a0001c0002t0016g0044 a0001c0008t0015g0043 a0003c0009t0017g0042	4	42	0.0952	40	c.-34 others(51): Show c.-3458_-3457insCATATATGTGTGTATATATGTGTATATATACATA TATATG	ROBO1	ENSG00000169855.21	transcript	ENST00000464233.6	protein_coding		3161		chr3	TogoVar
ROBO2_chr3_77035099_77654964	77322875	G G	GTAATATA others(33): Show GTAATATATTATATTATACATATGTATTATAATATATTATA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00735.hp1 HG01255.hp1 others(27): Show HG00280.hp2 HG00735.hp1 HG01255.hp1 HG01978.hp2 HG02055.hp2 HG02083.hp1 HG02109.hp2 HG02293.hp2 HG02738.hp2 HG02895.hp2 HG03098.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03516.hp1 HG03540.hp1 HG03834.hp2 NA18522.hp1 NA18945.hp2 NA18957.hp2 NA18959.hp2 NA18973.hp2 NA18986.hp1 NA19000.hp2 NA19006.hp1 NA19043.hp2 NA19077.hp2 NA19079.hp2 NA20300.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0003c0004 a0004c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0001t0031 a0001c0001t0046 a0001c0001t0047 a0001c0002t0026 a0002c0003t0007 a0003c0004t0002 a0004c0010t0033	a0001c0001t0001g0038 a0001c0001t0001g0118 a0001c0001t0001g0126 others(27): Show a0001c0001t0001g0038 a0001c0001t0001g0118 a0001c0001t0001g0126 a0001c0001t0002g0091 a0001c0001t0002g0128 a0001c0001t0003g0048 a0001c0001t0004g0010 a0001c0001t0004g0109 a0001c0001t0004g0148 a0001c0001t0004g0150 a0001c0001t0005g0050 a0001c0001t0005g0155 a0001c0001t0006g0024 a0001c0001t0006g0030 a0001c0001t0006g0152 a0001c0001t0008g0028 a0001c0001t0008g0032 a0001c0001t0010g0037 a0001c0001t0010g0131 a0001c0001t0010g0144 a0001c0001t0012g0045 a0001c0001t0014g0082 a0001c0001t0031g0156 a0001c0001t0046g0004 a0001c0001t0047g0025 a0001c0002t0026g0081 a0002c0003t0007g0116 a0003c0004t0002g0092 a0003c0004t0002g0141 a0004c0010t0033g0018	30	40	0.7500	40	c.389 others(61): Show c.389-154517_389-154516insGTATTATAATATATTATATAATAT ATTATATTATACATAT	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ROCK2_chr2_11174759_11349636	11238209	A A	AGTGTGTG others(33): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0243 a0001c0001t0004g0243	1	38	0.0263	40	c.463 others(57): Show c.463-2248_463-2247insACACACACACACACACACACACACACAC ACACACACACAC	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	4/32			chr2	TogoVar
ROCK2_chr2_11174759_11349636	11295990	G G	GAGAGAGA others(33): Show GAGAGAGAGAGAGAGGAGAGAGAGAGAGAGAGAGGGAGAGA	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0062 a0002c0002t0002g0062	1	217	0.0046	40	c.142 others(57): Show c.142-8255_142-8254insTCTCTCCCTCTCTCTCTCTCTCTCTCCT CTCTCTCTCTCT	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32			chr2	TogoVar
ROCK2_chr2_11174759_11349636	11296005	G G	GAGAGAGG others(33): Show GAGAGAGGGGAGAGGGGGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	46	0.0217	40	c.142 others(57): Show c.142-8270_142-8269insTCTCTCTCTCTCTCTCTCTCTCTCCCCC TCTCCCCTCTCT	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32			chr2	TogoVar
ROCK2_chr2_11174759_11349636	11296005	G G	GGGGAGAG others(33): Show GGGGAGAGGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	46	0.0217	40	c.142 others(57): Show c.142-8270_142-8269insTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCCCTCTCCC	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32			chr2	TogoVar

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