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
RIOK3_chr18_23448287_23488140	23480555	G G	GCACACAC others(13): Show GCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01496.hp2 NA18966.hp1 HG01496.hp2 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0162 a0001c0001t0001g0114 a0001c0001t0001g0162	2	402	0.0050	20	c.145 others(37): Show c.1453-600_1453-581dupCACACACACACACACACACA	RIOK3	ENSG00000101782.15	transcript	ENST00000339486.8	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
RIOK3_chr18_23448287_23488140	23487525	A A	AAAAGAAA others(13): Show AAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG03654.hp2 HG02109.hp1 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0244 a0001c0001t0003g0360 a0001c0001t0002g0244 a0001c0001t0003g0360	2	402	0.0050	20	c.62 others(31): Show c.6246_*6247insAAAGAAAGAAAGAAAGAAAG	RIOK3	ENSG00000101782.15	transcript	ENST00000339486.8	protein_coding		4386		chr18	TogoVar
RIOX2_chr3_97936818_97977431	97946586	G G	GTATATAT others(13): Show GTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0267 a0001c0001t0013g0267	1	370	0.0027	20	c.115 others(37): Show c.1150-719_1150-700dupTATATATATATATATATATA	RIOX2	ENSG00000170854.18	transcript	ENST00000394198.7	protein_coding	8/9			chr3	TogoVar
RIOX2_chr3_97936818_97977431	97972611	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG01978.hp1 HG00741.hp2 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0001g0006 a0001c0001t0001g0016	2	370	0.0054	20	c.-27 others(29): Show c.-271_-270insAAAAAAAAAAAAAAAAAAAA	RIOX2	ENSG00000170854.18	transcript	ENST00000394198.7	protein_coding		181		chr3	TogoVar
RIPK1_chr6_3063494_3120187	3076699	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02015.hp2 HG02273.hp2 others(9): Show HG00423.hp1 HG02015.hp2 HG02273.hp2 HG02698.hp2 HG02970.hp2 HG03130.hp2 HG03491.hp2 HG03669.hp1 HG03927.hp1 NA18940.hp1 NA18943.hp1 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0003g0031 others(9): Show a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0003g0031 a0001c0002t0001g0070 a0001c0002t0001g0115 a0001c0002t0001g0203 a0001c0002t0002g0013 a0001c0002t0002g0014 a0001c0002t0002g0083 a0001c0002t0002g0104 a0001c0002t0002g0173 a0001c0002t0002g0289	12	340	0.0353	20	c.-60 others(33): Show c.-60-57_-60-38dupTATATATATATATATATATA	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPOR3_chr20_50581108_50696542	50615108	A A	AGTGTGTG others(13): Show AGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0277 a0001c0001t0001g0277	1	280	0.0036	20	c.348 others(35): Show c.348+874_348+893dupACACACACACACACACACAC	RIPOR3	ENSG00000042062.13	transcript	ENST00000327979.8	protein_coding	4/21			chr20	TogoVar
RIPOR3_chr20_50581108_50696542	50663289	C C	CTTACCCA others(13): Show CTTACCCAGACCTACTGCTGG	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	280	0.0036	20	c.3+2 others(35): Show c.3+27817_3+27836dupCCAGCAGTAGGTCTGGGTAA	RIPOR3	ENSG00000042062.13	transcript	ENST00000327979.8	protein_coding	1/21			chr20	TogoVar
RIPOR3_chr20_50581108_50696542	50666183	A A	ATTTCTTT others(13): Show ATTTCTTTTCTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02523.hp1 NA19081.hp2 HG00408.hp1 HG02523.hp1 NA19081.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0002 a0007c0035 a0001c0001 a0002c0002 a0007c0035	a0001c0001t0001 a0002c0002t0001 a0007c0035t0001 a0001c0001t0001 a0002c0002t0001 a0007c0035t0001	a0001c0001t0001g0263 a0002c0002t0001g0258 a0007c0035t0001g0238 a0001c0001t0001g0263 a0002c0002t0001g0258 a0007c0035t0001g0238	3	280	0.0107	20	c.3+2 others(35): Show c.3+24923_3+24942dupAGAAAAGAAAAGAAAAGAAA	RIPOR3	ENSG00000042062.13	transcript	ENST00000327979.8	protein_coding	1/21			chr20	TogoVar
RIPOR3_chr20_50581108_50696542	50682612	A A	ATGTGTGT others(13): Show ATGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01069.hp1 HG01071.hp1 others(8): Show HG00323.hp1 HG01069.hp1 HG01071.hp1 HG01361.hp1 HG01361.hp2 HG02818.hp2 HG03098.hp2 HG06807.hp1 HG06807.hp2 NA19002.hp1 NA20129.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0002c0002 a0003c0005	a0001c0001t0001 a0001c0003t0002 a0001c0004t0002 others(3): Show a0001c0001t0001 a0001c0003t0002 a0001c0004t0002 a0002c0002t0002 a0002c0002t0005 a0003c0005t0002	a0001c0001t0001g0003 a0001c0001t0001g0045 a0001c0001t0001g0046 others(8): Show a0001c0001t0001g0003 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0122 a0001c0001t0001g0201 a0001c0003t0002g0202 a0001c0003t0002g0213 a0001c0004t0002g0100 a0002c0002t0002g0099 a0002c0002t0005g0001 a0003c0005t0002g0101	11	280	0.0393	20	c.3+8 others(33): Show c.3+8513_3+8514insCACACACACACACACACACA	RIPOR3	ENSG00000042062.13	transcript	ENST00000327979.8	protein_coding	1/21			chr20	TogoVar
RIT1_chr1_155892808_155916349	155898518	A A	AAAATATA others(13): Show AAAATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0076 a0001c0001t0076	a0001c0001t0076g0069 a0001c0001t0076g0069	1	342	0.0029	20	c.18 others(31): Show c.1869_*1870insATATATATATATATATATTT	RIT1	ENSG00000143622.12	transcript	ENST00000368323.8	protein_coding	6/6	1869		chr1	TogoVar
RIT2_chr18_42738227_43120685	42809946	A A	ATATATAT others(13): Show ATATATATAATTTGTATATGT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03195.hp2 HG02976.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0195 a0001c0001t0003g0005 a0001c0001t0001g0195 a0001c0001t0003g0005	2	240	0.0083	20	c.427 others(39): Show c.427-66227_427-66226insACATATACAAATTATATATA	RIT2	ENSG00000152214.14	transcript	ENST00000326695.10	protein_coding	4/4			chr18	TogoVar
RIT2_chr18_42738227_43120685	42837153	C C	CTTTTCTT others(13): Show CTTTTCTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	240	0.0042	20	c.426 others(39): Show c.426+86418_426+86419insAAAAAAAAAAAAAAAGAAAA	RIT2	ENSG00000152214.14	transcript	ENST00000326695.10	protein_coding	4/4			chr18	TogoVar
RIT2_chr18_42738227_43120685	42929032	G G	GATATATA others(13): Show GATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	240	0.0042	20	c.235 others(37): Show c.235-5270_235-5269insATATATATATATATATATAT	RIT2	ENSG00000152214.14	transcript	ENST00000326695.10	protein_coding	3/4			chr18	TogoVar
RIT2_chr18_42738227_43120685	42929034	G G	GATATATA others(13): Show GATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01361.hp2 HG01496.hp2 others(15): Show HG01261.hp1 HG01361.hp2 HG01496.hp2 HG01934.hp1 HG02055.hp2 HG02148.hp2 HG02683.hp1 HG02738.hp2 HG02818.hp1 NA18941.hp1 NA18954.hp1 NA18965.hp2 NA18986.hp2 NA19009.hp1 NA19012.hp1 NA19082.hp2 NA19240.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0022 a0001c0001t0001g0037 a0001c0001t0001g0043 others(15): Show a0001c0001t0001g0022 a0001c0001t0001g0037 a0001c0001t0001g0043 a0001c0001t0001g0093 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0199 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0002t0001g0016 a0001c0002t0001g0021 a0001c0002t0001g0085 a0001c0002t0001g0091 a0001c0002t0001g0198	18	240	0.0750	20	c.235 others(37): Show c.235-5291_235-5272dupATATATATATATATATATAT	RIT2	ENSG00000152214.14	transcript	ENST00000326695.10	protein_coding	3/4			chr18	TogoVar
RIT2_chr18_42738227_43120685	42940269	T T	TATATATA others(13): Show TATATATATATATATATATGC	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	240	0.0042	20	c.235 others(39): Show c.235-16507_235-16506insGCATATATATATATATATAT	RIT2	ENSG00000152214.14	transcript	ENST00000326695.10	protein_coding	3/4			chr18	TogoVar
RIT2_chr18_42738227_43120685	43026576	G G	GAAAGAAA others(13): Show GAAAGAAAGAAAGAAAGAAAT	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0061 a0001c0002t0001g0061	1	240	0.0042	20	c.160 others(37): Show c.160+7234_160+7235insATTTCTTTCTTTCTTTCTTT	RIT2	ENSG00000152214.14	transcript	ENST00000326695.10	protein_coding	2/4			chr18	TogoVar
RIT2_chr18_42738227_43120685	43057798	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01496.hp2 HG01934.hp1 others(19): Show HG00408.hp1 HG01496.hp2 HG01934.hp1 HG01993.hp2 HG02040.hp2 HG02683.hp1 HG02738.hp2 NA18612.hp2 NA18943.hp1 NA18946.hp1 NA18955.hp1 NA18965.hp1 NA18968.hp1 NA18980.hp1 NA18985.hp2 NA18986.hp2 NA18991.hp2 NA19007.hp1 NA19009.hp1 NA19085.hp1 NA19091.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0097 others(19): Show a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0125 a0001c0001t0001g0213 a0001c0001t0002g0232 a0001c0002t0001g0016 a0001c0002t0001g0021 a0001c0002t0001g0054 a0001c0002t0001g0085 a0001c0002t0001g0091 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0105 a0001c0002t0001g0110	22	240	0.0917	20	c.104 others(39): Show c.104-23932_104-23931insAAAAAAAAAAAAAAAAAAAA	RIT2	ENSG00000152214.14	transcript	ENST00000326695.10	protein_coding	1/4			chr18	TogoVar
RIT2_chr18_42738227_43120685	43085700	T T	TAGGGTTA others(13): Show TAGGGTTAGCATACCTTATCC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	240	0.0042	20	c.103 others(39): Show c.103+29697_103+29716dupGGATAAGGTATGCTAACCCT	RIT2	ENSG00000152214.14	transcript	ENST00000326695.10	protein_coding	1/4			chr18	TogoVar
RLBP1_chr15_89204869_89226579	89205128	T T	TTCTCTCT others(13): Show TTCTCTCTCTCTCTCTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18974.hp1 NA19001.hp1 NA18974.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0064 a0001c0001t0001g0007 a0001c0001t0001g0064	2	414	0.0048	20	c.51 others(31): Show c.5156_*5157insGAGAGAGAGAGAGAGAGAGA	RLBP1	ENSG00000140522.12	transcript	ENST00000268125.10	protein_coding		4740		chr15	TogoVar
RLBP1_chr15_89204869_89226579	89205168	C C	CTCTCTCT others(13): Show CTCTCTCTCTCTCTCTCTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp1 HG01169.hp2 HG01168.hp1 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	2	414	0.0048	20	c.51 others(31): Show c.5116_*5117insAAGAGAGAGAGAGAGAGAGA	RLBP1	ENSG00000140522.12	transcript	ENST00000268125.10	protein_coding		4700		chr15	TogoVar
RLBP1_chr15_89204869_89226579	89205179	T T	TCTCTCTC others(13): Show TCTCTCTCTCTCTCTCTCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp1 NA18974.hp2 HG02129.hp1 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	2	414	0.0048	20	c.51 others(31): Show c.5105_*5106insGGAGAGAGAGAGAGAGAGAG	RLBP1	ENSG00000140522.12	transcript	ENST00000268125.10	protein_coding		4689		chr15	TogoVar
RLF_chr1_40156387_40245921	40182753	G G	GTAGGTAG others(13): Show GTAGGTAGGTAGACAGATAGA	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG04199.hp1 NA18944.hp2 others(7): Show HG02027.hp1 HG04199.hp1 NA18944.hp2 NA18949.hp1 NA18952.hp1 NA18975.hp2 NA19002.hp1 NA19057.hp2 NA19064.hp1 NA19066.hp1	a0005 a0010 a0005 a0010	a0005c0005 a0010c0013 a0005c0005 a0010c0013	a0005c0005t0001 a0010c0013t0001 a0005c0005t0001 a0010c0013t0001	a0005c0005t0001g0306 a0005c0005t0001g0310 a0005c0005t0001g0311 others(7): Show a0005c0005t0001g0306 a0005c0005t0001g0310 a0005c0005t0001g0311 a0005c0005t0001g0312 a0005c0005t0001g0313 a0005c0005t0001g0316 a0005c0005t0001g0317 a0005c0005t0001g0319 a0010c0013t0001g0172 a0010c0013t0001g0315	10	338	0.0296	20	c.238 others(37): Show c.238-6299_238-6298insGTAGGTAGACAGATAGATAG	RLF	ENSG00000117000.9	transcript	ENST00000372771.5	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
RLF_chr1_40156387_40245921	40221899	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0178 a0004c0004t0001g0178	1	338	0.0030	20	c.811 others(35): Show c.811-656_811-655insAAAAAAAAAAAAAAAAAAAA	RLF	ENSG00000117000.9	transcript	ENST00000372771.5	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
RLF_chr1_40156387_40245921	40224623	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG06807.hp1 HG02257.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0222 a0001c0001t0001g0223	2	338	0.0059	20	c.947 others(37): Show c.947+1925_947+1944dupTTTTTTTTTTTTTTTTTTTT	RLF	ENSG00000117000.9	transcript	ENST00000372771.5	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
RMDN1_chr8_86467349_86513686	86503389	A A	AAAAAAAA others(13): Show AAAAAAAAAACAAAACAAAAC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0143 a0002c0003t0003g0143	1	368	0.0027	20	c.247 others(37): Show c.247+3605_247+3606insGTTTTGTTTTGTTTTTTTTT	RMDN1	ENSG00000176623.12	transcript	ENST00000406452.8	protein_coding	2/9			chr8	TogoVar
RMDN2_chr2_37920287_38022744	37934889	A A	AATTACAA others(13): Show AATTACAATATTATATGAAGC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03209.hp2 HG03453.hp1 others(1): Show HG03098.hp2 HG03209.hp2 HG03453.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(1): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008	4	328	0.0122	20	c.452 others(37): Show c.452+5161_452+5180dupATTACAATATTATATGAAGC	RMDN2	ENSG00000115841.21	transcript	ENST00000354545.8	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
RMDN2_chr2_37920287_38022744	37978777	C C	CAGATAGA others(13): Show CAGATAGATAGATAGATAGAT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG03491.hp2 HG03654.hp1 others(1): Show HG01496.hp2 HG03491.hp2 HG03654.hp1 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0001 a0001c0001t0003 a0001c0001t0008	a0001c0001t0001g0048 a0001c0001t0003g0128 a0001c0001t0003g0149 others(1): Show a0001c0001t0001g0048 a0001c0001t0003g0128 a0001c0001t0003g0149 a0001c0001t0008g0018	4	328	0.0122	20	c.731 others(37): Show c.731-2486_731-2467dupTAGATAGATAGATAGATAGA	RMDN2	ENSG00000115841.21	transcript	ENST00000354545.8	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
RMDN2_chr2_37920287_38022744	38003546	T T	TGATAGAT others(13): Show TGATAGATAGATAGATAGATA	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03927.hp1 HG04204.hp2 HG03669.hp2 HG03927.hp1 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0292 a0001c0001t0002g0306 a0001c0002t0001g0210 a0001c0001t0002g0292 a0001c0001t0002g0306 a0001c0002t0001g0210	3	328	0.0092	20	c.104 others(37): Show c.1045-407_1045-388dupATAGATAGATAGATAGATAG	RMDN2	ENSG00000115841.21	transcript	ENST00000354545.8	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
RMDN3_chr15_40730887_40760254	40741620	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	404	0.0025	20	c.911 others(37): Show c.911-1447_911-1428dupAAAAAAAAAAAAAAAAAAAA	RMDN3	ENSG00000137824.16	transcript	ENST00000338376.8	protein_coding	6/12			chr15	TogoVar
RMND5A_chr2_86715291_86783041	86737574	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02647.hp2 NA18906.hp2 HG01109.hp2 HG02647.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0019 a0001c0001t0001 a0001c0001t0019	a0001c0001t0001g0090 a0001c0001t0019g0018 a0001c0001t0001g0090 a0001c0001t0019g0018	3	304	0.0099	20	c.143 others(37): Show c.143-3352_143-3333dupATATATATATATATATATAT	RMND5A	ENSG00000153561.13	transcript	ENST00000283632.5	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
RMND5B_chr5_178126014_178155568	178144720	G G	GAAAAAAA others(13): Show GAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00621.hp1 HG00621.hp2 others(18): Show HG00609.hp2 HG00621.hp1 HG00621.hp2 HG01175.hp1 HG02165.hp2 HG03490.hp1 HG03669.hp2 NA18954.hp2 NA18974.hp1 NA18985.hp2 NA18986.hp2 NA19004.hp2 NA19010.hp2 NA19011.hp2 NA19059.hp1 NA19062.hp2 NA19070.hp1 NA19074.hp1 NA19078.hp1 NA19084.hp1 NA19086.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0003 a0001c0001t0010 a0001c0001t0012 others(2): Show a0001c0001t0003 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0003c0006t0003	a0001c0001t0003g0010 a0001c0001t0003g0024 a0001c0001t0003g0116 others(13): Show a0001c0001t0003g0010 a0001c0001t0003g0024 a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0119 a0001c0001t0003g0124 a0001c0001t0003g0129 a0001c0001t0003g0131 a0001c0001t0003g0133 a0001c0001t0003g0153 a0001c0001t0003g0237 a0001c0001t0003g0238 a0001c0001t0010g0024 a0001c0001t0012g0142 a0001c0001t0014g0123 a0003c0006t0003g0128	21	412	0.0510	20	c.694 others(35): Show c.694+625_694+626insAAAAAAAAAAAAAAAAAAAA	RMND5B	ENSG00000145916.19	transcript	ENST00000313386.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
RNASE2_chr14_20950487_20961436	20951851	T T	TGAAAGAA others(13): Show TGAAAGAAAGAAAGAAAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG02083.hp2 NA19057.hp2 HG00438.hp2 HG02083.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0001 a0001c0002t0002g0001 a0001c0001t0001g0001 a0001c0002t0002g0001	3	410	0.0073	20	c.-36 others(31): Show c.-3691_-3690insGAAAGAAAGAAAGAAAGAAA	RNASE2	ENSG00000169385.3	transcript	ENST00000304625.3	protein_coding		3635		chr14	TogoVar
RNASE2_chr14_20950487_20961436	20951885	A A	AAAGAAAG others(13): Show AAAGAAAGAAAGAAAGAAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp1 HG02895.hp2 NA19086.hp1 HG01175.hp1 HG02895.hp2 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	410	0.0073	20	c.-36 others(31): Show c.-3657_-3656insAAGAAAGAAAGAAAGAAAGG	RNASE2	ENSG00000169385.3	transcript	ENST00000304625.3	protein_coding		3601		chr14	TogoVar
RNASE2_chr14_20950487_20961436	20951885	A A	AAAGAAAG others(13): Show AAAGAAAGAAAGAAAGGAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02148.hp2 HG02897.hp2 NA19006.hp2 others(1): Show HG02148.hp2 HG02897.hp2 NA19006.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	4	410	0.0098	20	c.-36 others(31): Show c.-3657_-3656insAAGAAAGAAAGAAAGGAAGG	RNASE2	ENSG00000169385.3	transcript	ENST00000304625.3	protein_coding		3601		chr14	TogoVar
RNASE2_chr14_20950487_20961436	20951885	A A	AAAGAAAG others(13): Show AAAGAAAGAAAGGAAGGAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG01255.hp2 HG02273.hp1 others(4): Show HG00140.hp1 HG01255.hp2 HG02273.hp1 HG04228.hp2 NA18971.hp2 NA18986.hp2 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0001 a0001c0002t0002g0001 a0001c0001t0001g0001 a0001c0002t0002g0001	7	410	0.0171	20	c.-36 others(31): Show c.-3657_-3656insAAGAAAGAAAGGAAGGAAGG	RNASE2	ENSG00000169385.3	transcript	ENST00000304625.3	protein_coding		3601		chr14	TogoVar
RNASE2_chr14_20950487_20961436	20951885	A A	AAAGAAAG others(13): Show AAAGAAAGGAAGGAAGGAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG01928.hp1 HG02300.hp1 others(5): Show HG01891.hp2 HG01928.hp1 HG02300.hp1 HG02683.hp1 HG02683.hp2 NA18988.hp2 NA19000.hp2 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	8	410	0.0195	20	c.-36 others(31): Show c.-3657_-3656insAAGAAAGGAAGGAAGGAAGG	RNASE2	ENSG00000169385.3	transcript	ENST00000304625.3	protein_coding		3601		chr14	TogoVar
RNASE2_chr14_20950487_20961436	20951885	A A	AAAGGAAG others(13): Show AAAGGAAGGAAGGAAGGAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	410	0.0024	20	c.-36 others(31): Show c.-3657_-3656insAAGGAAGGAAGGAAGGAAGG	RNASE2	ENSG00000169385.3	transcript	ENST00000304625.3	protein_coding		3601		chr14	TogoVar
RNASE2_chr14_20950487_20961436	20951921	G G	GAAGGAAG others(13): Show GAAGGAAGGAAGAAAGAAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	410	0.0024	20	c.-36 others(31): Show c.-3621_-3620insAAGGAAGGAAGAAAGAAAGA	RNASE2	ENSG00000169385.3	transcript	ENST00000304625.3	protein_coding		3565		chr14	TogoVar
RNASE2_chr14_20950487_20961436	20951921	G G	GAAGGAAG others(13): Show GAAGGAAGGAAGGAAGAAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp2 NA18973.hp1 NA19088.hp2 HG01433.hp2 NA18973.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	410	0.0073	20	c.-36 others(31): Show c.-3621_-3620insAAGGAAGGAAGGAAGAAAGA	RNASE2	ENSG00000169385.3	transcript	ENST00000304625.3	protein_coding		3565		chr14	TogoVar
RNASE6_chr14_20776268_20787467	20780776	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	466	0.0022	20	c.-56 others(29): Show c.-568_-567insAAAAAAAAAAAAAAAAAAAA	RNASE6	ENSG00000169413.3	transcript	ENST00000304677.3	protein_coding		491		chr14	TogoVar
RNASE8_chr14_21052822_21063455	21057618	C C	CATATATA others(13): Show CATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0000 a0002c0002t0002g0000	2	448	0.0045	20	c.-27 others(29): Show c.-275_-274insATATATATATATATATATAT	RNASE8	ENSG00000173431.2	transcript	ENST00000308227.2	protein_coding		203		chr14	TogoVar
RNASE8_chr14_21052822_21063455	21062708	A A	AGTGTGTG others(13): Show AGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG02486.hp1 others(10): Show HG00408.hp1 HG00438.hp1 HG02486.hp1 HG02486.hp2 HG02630.hp2 HG03017.hp2 HG03130.hp2 HG03239.hp1 HG03491.hp1 HG03492.hp1 HG04184.hp1 HG06807.hp2 NA19066.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0000 a0002c0002t0002g0000 a0001c0001t0001g0000 a0002c0002t0002g0000	13	448	0.0290	20	c.43 others(31): Show c.4351_*4352insGTGTGTGTGTGTGTGTGTGT	RNASE8	ENSG00000173431.2	transcript	ENST00000308227.2	protein_coding		4254		chr14	TogoVar
RNASEH1_chr2_3536430_3563333	3552461	G G	GACCCCCT others(13): Show GACCCCCTCCACGCCATCTCC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0032 a0001c0002t0032	a0001c0002t0032g0114 a0001c0002t0032g0114	1	408	0.0025	20	c.245 others(35): Show c.245-173_245-154dupGGAGATGGCGTGGAGGGGGT	RNASEH1	ENSG00000171865.10	transcript	ENST00000315212.4	protein_coding	2/7			chr2	TogoVar
RNASEH1_chr2_3536430_3563333	3552497	T T	TCTCCACC others(13): Show TCTCCACCCCCTCCACGCCAC	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0182 a0001c0002t0013g0182	1	408	0.0025	20	c.245 others(35): Show c.245-190_245-189insGTGGCGTGGAGGGGGTGGAG	RNASEH1	ENSG00000171865.10	transcript	ENST00000315212.4	protein_coding	2/7			chr2	TogoVar
RNASEH2A_chr19_12801584_12818640	12805131	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18987.hp1 NA19068.hp1 NA18987.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	2	412	0.0049	20	c.-15 others(31): Show c.-1543_-1542insAAAAAAAAAAAAAAAAAAAA	RNASEH2A	ENSG00000104889.7	transcript	ENST00000221486.6	protein_coding		1452		chr19	TogoVar
RNASEL_chr1_182568634_182594256	182587895	T T	TCAGTAGA others(13): Show TCAGTAGAAACCACACTTCAA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	434	0.0023	20	c.-16 others(37): Show c.-164-945_-164-926dupTTGAAGTGTGGTTTCTACTG	RNASEL	ENSG00000135828.11	transcript	ENST00000367559.7	protein_coding	1/6			chr1	TogoVar
RNASET2_chr6_166917113_166961550	166923228	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00621.hp1 HG02647.hp1 NA19058.hp2 HG00621.hp1 HG02647.hp1 NA19058.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0044 a0002c0004t0030 a0001c0001t0044 a0002c0004t0030	a0001c0001t0044g0155 a0002c0004t0030g0038 a0002c0004t0030g0040 a0001c0001t0044g0155 a0002c0004t0030g0038 a0002c0004t0030g0040	3	346	0.0087	20	c.63 others(31): Show c.6340_*6359dupAAAAAAAAAAAAAAAAAAAA	RNASET2	ENSG00000026297.17	transcript	ENST00000508775.6	protein_coding	9/9	6359		chr6	TogoVar
RNASET2_chr6_166917113_166961550	166925152	T T	TCCAGCCC others(13): Show TCCAGCCCTCACTCCTGCCGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00408.hp2 HG00558.hp1 HG00621.hp1 others(55): Show HG00408.hp2 HG00558.hp1 HG00621.hp1 HG01070.hp1 HG01168.hp2 HG01175.hp1 HG01255.hp1 HG01256.hp1 HG01515.hp1 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG02015.hp2 HG02027.hp2 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02145.hp2 HG02273.hp2 HG02280.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp2 HG02572.hp2 HG02647.hp1 HG02735.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02922.hp1 HG02965.hp2 HG03041.hp2 HG03239.hp1 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG03704.hp1 HG03704.hp2 HG04228.hp2 NA18942.hp2 NA18945.hp1 NA18949.hp1 NA18949.hp2 NA18959.hp1 NA18973.hp2 NA18982.hp2 NA18990.hp2 NA18995.hp2 NA18999.hp1 NA19001.hp1 NA19009.hp2 NA19012.hp1 NA19055.hp2 NA19056.hp2 NA19058.hp2 NA19086.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0002c0004 others(3): Show a0001c0001 a0001c0002 a0002c0004 a0002c0006 a0002c0018 a0005c0013	a0001c0001t0010 a0001c0001t0013 a0001c0001t0044 others(46): Show a0001c0001t0010 a0001c0001t0013 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0058 a0001c0001t0059 a0001c0001t0139 a0001c0002t0031 a0001c0002t0089 a0001c0002t0090 a0001c0002t0091 a0001c0002t0092 a0001c0002t0093 a0001c0002t0117 a0001c0002t0118 a0001c0002t0119 a0001c0002t0120 a0001c0002t0121 a0001c0002t0122 a0001c0002t0128 a0001c0002t0155 a0001c0002t0167 a0002c0004t0015 a0002c0004t0030 a0002c0004t0080 a0002c0004t0081 a0002c0004t0082 a0002c0004t0083 a0002c0004t0085 a0002c0004t0087 a0002c0004t0088 a0002c0004t0116 a0002c0004t0151 a0002c0004t0152 a0002c0004t0153 a0002c0004t0174 a0002c0006t0015 a0002c0006t0040 a0002c0006t0163 a0002c0006t0164 a0002c0018t0084 a0005c0013t0094	a0001c0001t0010g0004 a0001c0001t0010g0051 a0001c0001t0010g0102 others(52): Show a0001c0001t0010g0004 a0001c0001t0010g0051 a0001c0001t0010g0102 a0001c0001t0013g0008 a0001c0001t0013g0052 a0001c0001t0044g0155 a0001c0001t0045g0023 a0001c0001t0046g0174 a0001c0001t0049g0056 a0001c0001t0050g0104 a0001c0001t0051g0173 a0001c0001t0052g0054 a0001c0001t0053g0186 a0001c0001t0054g0059 a0001c0001t0058g0146 a0001c0001t0059g0148 a0001c0001t0139g0298 a0001c0002t0031g0007 a0001c0002t0089g0117 a0001c0002t0090g0131 a0001c0002t0091g0070 a0001c0002t0092g0044 a0001c0002t0093g0109 a0001c0002t0117g0215 a0001c0002t0118g0204 a0001c0002t0119g0223 a0001c0002t0120g0207 a0001c0002t0121g0229 a0001c0002t0122g0219 a0001c0002t0128g0206 a0001c0002t0155g0274 a0001c0002t0167g0306 a0002c0004t0015g0157 a0002c0004t0015g0166 a0002c0004t0030g0038 a0002c0004t0030g0040 a0002c0004t0080g0181 a0002c0004t0081g0154 a0002c0004t0082g0165 a0002c0004t0083g0132 a0002c0004t0085g0071 a0002c0004t0087g0039 a0002c0004t0088g0022 a0002c0004t0116g0205 a0002c0004t0151g0285 a0002c0004t0152g0239 a0002c0004t0153g0244 a0002c0004t0174g0311 a0002c0006t0015g0164 a0002c0006t0040g0301 a0002c0006t0040g0303 a0002c0006t0163g0237 a0002c0006t0164g0255 a0002c0018t0084g0197 a0005c0013t0094g0046	58	346	0.1676	20	c.44 others(31): Show c.4416_*4435dupGCGGCAGGAGTGAGGGCTGG	RNASET2	ENSG00000026297.17	transcript	ENST00000508775.6	protein_coding	9/9	4435		chr6	TogoVar
RND1_chr12_48852145_48870870	48864416	T T	TGTGTGTG others(13): Show TGTGTGTGTGTGTGTGCGCGC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02258.hp1 NA19240.hp1 HG02109.hp2 HG02258.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0026 a0001c0001t0004g0026	3	400	0.0075	20	c.208 others(35): Show c.208+366_208+367insGCGCGCACACACACACACAC	RND1	ENSG00000172602.11	transcript	ENST00000309739.6	protein_coding	2/4			chr12	TogoVar
RND1_chr12_48852145_48870870	48867897	T T	TGGGGTGC others(13): Show TGGGGTGCGGGGAGTGAGTGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0004 a0001c0002t0001g0004	1	400	0.0025	20	c.-21 others(31): Show c.-2131_-2130insTCACTCACTCCCCGCACCCC	RND1	ENSG00000172602.11	transcript	ENST00000309739.6	protein_coding		2028		chr12	TogoVar

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