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
RANBP17_chr5_170857018_171305015	170894484	T T	TTATATAT others(41): Show TTATATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG03927.hp1 NA18972.hp1 HG01358.hp1 HG03927.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0003g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0003g0082	3	85	0.0353	48	c.424 others(65): Show c.424-1565_424-1564insATATATATATATATATATATATATATAT ATATATATATATATATATAT	RANBP17	ENSG00000204764.14	transcript	ENST00000523189.6	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr5	TogoVar
RAP1GAP2_chr17_2791438_3042741	2898929	G G	GTATTGAT others(41): Show GTATTGATTAGCAGGAGTATTGATTAGCAGGAGTATTGATTAGCAGGAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0189 a0001c0001t0002g0189	1	216	0.0046	48	c.81- others(63): Show c.81-6328_81-6327insAGGAGTATTGATTAGCAGGAATATTGATTA GCAGGAGTATTGATTAGC	RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
RAP1GAP2_chr17_2791438_3042741	2964279	G G	GAGAGGAG others(41): Show GAGAGGAGCTGCGGGGGGTGGGGGTGAGGCTGGGGGAGGCTTGGGGGAC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02040.hp2 NA18980.hp1 HG00544.hp2 HG02040.hp2 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0084 a0001c0001t0125 a0001c0001t0013 a0001c0001t0084 a0001c0001t0125	a0001c0001t0013g0193 a0001c0001t0084g0175 a0001c0001t0125g0037 a0001c0001t0013g0193 a0001c0001t0084g0175 a0001c0001t0125g0037	3	216	0.0139	48	c.492 others(63): Show c.492+222_492+269dupCGGGGGGTGGGGGTGAGGCTGGGGGAGGCT TGGGGGACAGAGGAGCTG	RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	7/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
RAP1GAP_chr1_21591221_21674357	21660345	A A	ATATATAT others(41): Show ATATATATATATATATATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0301 a0002c0006t0001g0301	1	259	0.0039	48	c.-14 others(67): Show c.-149+8908_-149+8909insAATATATATATATATATATATATATA TATATATATATATATATATATA	RAP1GAP	ENSG00000076864.21	transcript	ENST00000374765.9	protein_coding	1/24			chr1	TogoVar
RAP1GAP_chr1_21591221_21674357	21660345	A A	ATATATAT others(41): Show ATATATATATATATATATATATATATATATATATATATATATATTTATT	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp2 NA18961.hp2 others(2): Show NA18950.hp1 NA18950.hp2 NA18961.hp2 NA18966.hp1 NA18994.hp2	a0002 a0007 a0002 a0007	a0002c0001 a0002c0005 a0007c0020 a0002c0001 a0002c0005 a0007c0020	a0002c0001t0001 a0002c0005t0001 a0007c0020t0001 a0002c0001t0001 a0002c0005t0001 a0007c0020t0001	a0002c0001t0001g0035 a0002c0001t0001g0036 a0002c0001t0001g0049 others(2): Show a0002c0001t0001g0035 a0002c0001t0001g0036 a0002c0001t0001g0049 a0002c0005t0001g0034 a0007c0020t0001g0037	5	263	0.0190	48	c.-14 others(67): Show c.-149+8908_-149+8909insAATAAATATATATATATATATATATA TATATATATATATATATATATA	RAP1GAP	ENSG00000076864.21	transcript	ENST00000374765.9	protein_coding	1/24			chr1	TogoVar
RAP1GAP_chr1_21591221_21674357	21660352	T T	TATATATA others(41): Show TATATATATATATAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0195 a0001c0004t0001g0195	1	243	0.0041	48	c.-14 others(67): Show c.-149+8901_-149+8902insCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTATATATATATAT	RAP1GAP	ENSG00000076864.21	transcript	ENST00000374765.9	protein_coding	1/24			chr1	TogoVar
RAP1GAP_chr1_21591221_21674357	21660352	T T	TATATATA others(41): Show TATATATATATATATATATAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0189 a0001c0004t0001g0189	1	243	0.0041	48	c.-14 others(67): Show c.-149+8901_-149+8902insCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTATATATATATATATATAT	RAP1GAP	ENSG00000076864.21	transcript	ENST00000374765.9	protein_coding	1/24			chr1	TogoVar
RAPH1_chr2_203428682_203540301	203506776	A A	ATATATCT others(41): Show ATATATCTATATATATCTAGATATATATATCTATATATATATCTATATC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03453.hp2 HG03225.hp2 HG03453.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0026 a0001c0007t0026	a0001c0007t0026g0005 a0001c0007t0026g0006 a0001c0007t0026g0005 a0001c0007t0026g0006	2	286	0.0070	48	c.1-1 others(63): Show c.1-11424_1-11423insGATATAGATATATATATAGATATATATATC TAGATATATATAGATATA	RAPH1	ENSG00000173166.18	transcript	ENST00000319170.10	protein_coding	1/13			chr2	TogoVar
RASGEF1B_chr4_81421393_81476907	81466770	A A	AAAAGAAA others(41): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	45	0.0222	48	c.-7+ others(63): Show c.-7+4952_-7+4999dupCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTT	RASGEF1B	ENSG00000138670.19	transcript	ENST00000264400.7	protein_coding	1/13			chr4	TogoVar
RASGRF1_chr15_78954906_79095780	79024927	C C	CACACACC others(41): Show CACACACCACATATACAAACACACAGACACAAAAACACCACACATACAT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02572.hp2 HG02630.hp2 others(2): Show HG02559.hp1 HG02572.hp2 HG02630.hp2 HG02818.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0002t0004 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0004 a0001c0002t0006	a0001c0001t0001g0233 a0001c0001t0001g0274 a0001c0001t0004g0053 others(2): Show a0001c0001t0001g0233 a0001c0001t0001g0274 a0001c0001t0004g0053 a0001c0002t0004g0241 a0001c0002t0006g0288	5	312	0.0160	48	c.154 others(65): Show c.1542+339_1542+386dupATGTATGTGTGGTGTTTTTGTGTCTGTG TGTTTGTATATGTGGTGTGT	RASGRF1	ENSG00000058335.16	transcript	ENST00000558480.7	protein_coding	10/26			chr15	TogoVar
RASGRF2_chr5_80955363_81235162	80992183	T T	TACACACA others(41): Show TACACACACACACACACATACACACACATACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0008 a0001c0004t0008	a0001c0004t0008g0254 a0001c0004t0008g0254	1	122	0.0082	48	c.288 others(67): Show c.288+31172_288+31173insCATACACACACATACACACACACACA CACACACACACACACACACACA	RASGRF2	ENSG00000113319.13	transcript	ENST00000265080.9	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr5	TogoVar
RASGRF2_chr5_80955363_81235162	80992183	T T	TACACACA others(41): Show TACACACACACACACATACACACACATACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG03490.hp2 HG03579.hp1 others(1): Show HG02738.hp2 HG03490.hp2 HG03579.hp1 NA18987.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0005 a0001c0002 a0002c0005	a0001c0002t0001 a0001c0002t0002 a0001c0002t0012 others(1): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0012 a0002c0005t0003	a0001c0002t0001g0148 a0001c0002t0002g0231 a0001c0002t0012g0105 others(1): Show a0001c0002t0001g0148 a0001c0002t0002g0231 a0001c0002t0012g0105 a0002c0005t0003g0049	4	125	0.0320	48	c.288 others(67): Show c.288+31172_288+31173insTACACACACATACACACACACACACA CACACACACACACACACACACA	RASGRF2	ENSG00000113319.13	transcript	ENST00000265080.9	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr5	TogoVar
RASGRF2_chr5_80955363_81235162	80996502	T T	TTCTTCTT others(41): Show TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCCTCCTCC	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0172 a0001c0001t0051g0172	1	266	0.0038	48	c.288 others(67): Show c.288+35478_288+35479insTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCCTCCTCCTCCTC	RASGRF2	ENSG00000113319.13	transcript	ENST00000265080.9	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr5	TogoVar
RASSF3_chr12_64605495_64702564	64660006	G G	GTATATAT others(41): Show GTATATATATATGTGTGTGTGTGTATGTGTATATATATGTGTGTATGTA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0167 a0001c0001t0011g0167	1	279	0.0036	48	c.112 others(67): Show c.112-24772_112-24771insATGTGTGTGTGTGTATGTGTATATAT ATGTGTGTATGTATATATATAT	RASSF3	ENSG00000153179.14	transcript	ENST00000542104.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr12	TogoVar
RASSF3_chr12_64605495_64702564	64696118	C C	CCTCCCTC others(41): Show CCTCCCTCCCTCACTCACTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0265 a0001c0001t0017g0265	1	183	0.0055	48	c.12 others(59): Show c.1210_*1211insCTCCCTCACTCACTCCCTCCCTCCCTCCCTCCCT CCCTCCCTCACTCC	RASSF3	ENSG00000153179.14	transcript	ENST00000542104.6	protein_coding	5/5	1211	INFO_REALIGN_3_PRIME	chr12	TogoVar
RASSF3_chr12_64605495_64702564	64696118	C C	CCTCCCTC others(41): Show CCTCCCTCCCTCCCTCACTCACTCCCTCCCTCCCTCCCTCCCTCCCTCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0249 a0001c0001t0003g0249	1	183	0.0055	48	c.12 others(59): Show c.1210_*1211insCTCCCTCCCTCACTCACTCCCTCCCTCCCTCCCT CCCTCCCTCACTCC	RASSF3	ENSG00000153179.14	transcript	ENST00000542104.6	protein_coding	5/5	1211	INFO_REALIGN_3_PRIME	chr12	TogoVar
RASSF3_chr12_64605495_64702564	64696118	C C	CCTCCCTC others(41): Show CCTCCCTCCCTCCCTCCCTCACTCCCTCCCTCCCTCCCTCCCTCCCTCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02257.hp1 HG02451.hp1 HG02886.hp2 HG02257.hp1 HG02451.hp1 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0350 a0001c0001t0014g0353 a0001c0001t0014g0354 a0001c0001t0014g0350 a0001c0001t0014g0353 a0001c0001t0014g0354	3	185	0.0162	48	c.12 others(59): Show c.1210_*1211insCTCCCTCCCTCCCTCACTCCCTCCCTCCCTCCCT CCCTCCCTCACTCC	RASSF3	ENSG00000153179.14	transcript	ENST00000542104.6	protein_coding	5/5	1211	INFO_REALIGN_3_PRIME	chr12	TogoVar
RB1_chr13_48298751_48486890	48459906	T T	TTTCCTTC others(41): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0263 a0001c0001t0001g0263	1	279	0.0036	48	c.210 others(63): Show c.2106+76_2106+77insCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTC	RB1	ENSG00000139687.16	transcript	ENST00000267163.6	protein_coding	20/26		INFO_REALIGN_3_PRIME	chr13	TogoVar
RBFOX1_chr16_6014024_7718340	6450812	T T	TACATATA others(41): Show TACATATATATATATACATATATATATATACATATATATATGTATATAC	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0060 a0001c0004t0001g0060	1	56	0.0179	48	c.-64 others(69): Show c.-64+133756_-64+133757insCATATATATATATACATATATATA TATACATATATATATGTATATACA	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	6450812	T T	TACATATA others(41): Show TACATATATATATATACATGTATATATATACATATATATATGTATATAC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0054 a0001c0001t0012g0054	1	56	0.0179	48	c.-64 others(69): Show c.-64+133756_-64+133757insCATATATATATATACATGTATATA TATACATATATATATGTATATACA	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	6450825	A A	ACATATAT others(41): Show ACATATATATATATATACATATATATATGTATATACATATATATATATG	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0065 a0001c0001t0035g0065	1	55	0.0182	48	c.-64 others(69): Show c.-64+133768_-64+133769insCATATATATATATATACATATATA TATGTATATACATATATATATATG	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	2/15			chr16	TogoVar
RBFOX1_chr16_6014024_7718340	6855845	C C	CCTTCCCT others(41): Show CCTTCCCTCCCTCCTTCCCTCCCTCTTTCCCTCCCTCTTTCCCTCCCTG	intron_variant intron_variant	MODIFIER	HG03195.hp1 NA18522.hp2 HG03195.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0030 a0001c0001t0026 a0001c0001t0030	a0001c0001t0026g0051 a0001c0001t0030g0024 a0001c0001t0026g0051 a0001c0001t0030g0024	2	21	0.0952	48	c.-15 others(69): Show c.-15-196212_-15-196211insCTTCCCTCCCTCCTTCCCTCCCTC TTTCCCTCCCTCTTTCCCTCCCTG	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	3/15			chr16	TogoVar
RBFOX1_chr16_6014024_7718340	7217023	C C	CCCTTCCT others(41): Show CCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	HG03471.hp1 NA20300.hp2 HG03471.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0025 a0001c0001t0003 a0001c0001t0025	a0001c0001t0003g0006 a0001c0001t0025g0048 a0001c0001t0003g0006 a0001c0001t0025g0048	2	66	0.0303	48	c.27+ others(67): Show c.27+164928_27+164929insTCCTCCCTCCCTCCCTCCCTCCCTTC CTCCCTCCCTCCCTCCCTTCCT	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	7280989	C C	CTCCCTCC others(41): Show CTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0037 a0001c0001t0010g0037	1	25	0.0400	48	c.27+ others(67): Show c.27+228894_27+228895insCTCCCTCCCTCCCTCCCTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCC	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	7504739	A A	ATATATAT others(41): Show ATATATATATATATTTATATATATATATATTTATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0041 a0001c0001t0003g0041	1	53	0.0189	48	c.28- others(65): Show c.28-13395_28-13394insTTATATATATATATATTTATATATATAT ATATATTTATATATATATAT	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_7327845_7718340	7504739	A A	ATATATAT others(41): Show ATATATATATATATTTATATATATATATATTTATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0013 a0001c0001t0002g0013	1	196	0.0051	48	c.88- others(65): Show c.88-13395_88-13394insTTATATATATATATATTTATATATATAT ATATATTTATATATATATAT	RBFOX1	ENSG00000078328.23	transcript	ENST00000355637.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX3_chr17_79084345_79616051	79170128	A A	AAGGAGGA others(41): Show AAGGAGGAAGGAGGAAGGAAGGAAGGGAGGAGGAAGGAGGAAGGAAGGG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0047 a0001c0002t0003g0047	1	135	0.0074	48	c.-33 others(67): Show c.-33-54381_-33-54380insCCCTTCCTTCCTCCTTCCTCCTCCCT TCCTTCCTTCCTCCTTCCTCCT	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	4/14			chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79498476	T T	TCCATCCA others(41): Show TCCATCCATAAGCCTACCCATCCATCCACTCATCCATCCACTCACTCAC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	152	0.0066	48	c.-31 others(69): Show c.-319-15879_-319-15878insGTGAGTGAGTGGATGGATGAGTGG ATGGATGGGTAGGCTTATGGATGG	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79611130	T T	TTCTCTCT others(41): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0089 a0001c0001t0004g0089	1	35	0.0286	48	c.-62 others(57): Show c.-625_-624insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGA	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding		80		chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79611174	C C	CTCTCTCT others(41): Show CTCTCTCTCTCTCTCTCTCTCTCCGCCCTCCTTCTCTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0094 a0001c0001t0004g0094	1	116	0.0086	48	c.-66 others(57): Show c.-669_-668insAGAGAGAGAGAGAGAGAAGGAGGGCGGAGAGAGAGA GAGAGAGAGAGA	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding		124		chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79611174	C C	CTCTCTCT others(41): Show CTCTCTCTCTCTCTCTCTCTCTCTCCGCCCTCCTTCTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0092 a0001c0001t0004g0092	1	116	0.0086	48	c.-66 others(57): Show c.-669_-668insAGAGAGAGAGAGAGAAGGAGGGCGGAGAGAGAGAGA GAGAGAGAGAGA	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding		124		chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79611174	C C	CTCTCTCT others(41): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCCGCCCTCCTTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0116 a0001c0001t0004g0116	1	116	0.0086	48	c.-66 others(57): Show c.-669_-668insAGAGAGAGAGAGAAGGAGGGCGGAGAGAGAGAGAGA GAGAGAGAGAGA	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding		124		chr17	TogoVar
RBM19_chr12_113817057_113971325	113879446	T T	TATATATA others(41): Show TATATATATATATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0090 a0001c0001t0002g0090	1	305	0.0033	48	c.255 others(69): Show c.2559-20551_2559-20550insGTATATATATATATATATATATAT ATATATATATATATATATATATAT	RBM19	ENSG00000122965.11	transcript	ENST00000261741.10	protein_coding	21/23			chr12	TogoVar
RBM39_chr20_35696347_35747260	35713666	C C	CAAAAAAA others(41): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0065 a0001c0001t0004g0065	1	52	0.0192	48	c.109 others(65): Show c.1096+518_1096+519insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTT	RBM39	ENSG00000131051.24	transcript	ENST00000253363.11	protein_coding	11/16			chr20	TogoVar
RBM5_chr3_50083919_50124021	50084486	G G	GCGGCTGG others(41): Show GCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGAGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	280	0.0036	48	c.-45 others(59): Show c.-4597_-4596insCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCT CCCTCCCGGAGGGA	RBM5	ENSG00000003756.17	transcript	ENST00000347869.8	protein_coding		4432		chr3	TogoVar
RBMS1_chr2_160267151_160498807	160471691	G G	GTGTGTAT others(41): Show GTGTGTATGTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0087 a0001c0001t0004g0087	1	177	0.0056	48	c.75+ others(65): Show c.75+21597_75+21598insTATATATATATATATATATATATATATA TATATATATATACATACACA	RBMS1	ENSG00000153250.21	transcript	ENST00000348849.8	protein_coding	1/13			chr2	TogoVar
RCAN2_chr6_46215736_46496449	46367022	G G	GATATATA others(41): Show GATATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0018 a0001c0001t0006g0018	1	24	0.0417	48	c.225 others(67): Show c.225+89729_225+89730insATATATATATATATATATATATATAT ATATATATATATATATATATAT	RCAN2	ENSG00000172348.16	transcript	ENST00000371374.6	protein_coding	2/4			chr6	TogoVar
RCC1L_chr7_75037183_75078802	75077872	A A	ACTTGGTT others(41): Show ACTTGGTTGGTTTTGTAGACTGCTTCTGTGCTAGAAAATACTTACTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0003 a0002c0002t0002g0003	1	268	0.0037	48	c.-41 others(59): Show c.-4136_-4135insAAAAGTAAGTATTTTCTAGCACAGAAGCAGTCTA CAAAACCAACCAAG	RCC1L	ENSG00000274523.5	transcript	ENST00000610322.5	protein_coding		4071		chr7	TogoVar
RCHY1_chr4_75474033_75519403	75487682	T T	TATATATT others(41): Show TATATATTCATATATATATTCATAATATATATTCATATATATATTCATA	intron_variant intron_variant	MODIFIER	NA19055.hp1 NA19091.hp1 NA19055.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0107 a0001c0001t0003g0132 a0001c0001t0003g0107 a0001c0001t0003g0132	2	306	0.0065	48	c.657 others(65): Show c.657+2898_657+2899insTATGAATATATATATGAATATATATTAT GAATATATATATGAATATAT	RCHY1	ENSG00000163743.14	transcript	ENST00000324439.10	protein_coding	8/8			chr4	TogoVar
RCHY1_chr4_75474033_75519403	75487759	T T	TATATATT others(41): Show TATATATTCATATATATATTCATAATATATATTCATATATATATTCATA	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19007.hp1 NA19003.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0252 a0001c0001t0001g0268 a0001c0001t0001g0252 a0001c0001t0001g0268	2	403	0.0050	48	c.657 others(65): Show c.657+2821_657+2822insTATGAATATATATATGAATATATATTAT GAATATATATATGAATATAT	RCHY1	ENSG00000163743.14	transcript	ENST00000324439.10	protein_coding	8/8			chr4	TogoVar
RCSD1_chr1_167625232_167713696	167701252	G G	GTTTCTTT others(41): Show GTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0230 a0001c0001t0003g0230	1	101	0.0099	48	c.121 others(67): Show c.1219-3392_1219-3345dupCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTT	RCSD1	ENSG00000198771.11	transcript	ENST00000367854.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
RCVRN_chr17_9891320_9910271	9905446	C C	CGCCTCTC others(41): Show CGCCTCTCCCTCACCACTCTTCCTTCTTAATTCACCTCTATACTACCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	478	0.0021	48	c.-26 others(57): Show c.-267_-266insCAGGTAGTATAGAGGTGAATTAAGAAGGAAGAGTGG TGAGGGAGAGGC	RCVRN	ENSG00000109047.8	transcript	ENST00000226193.6	protein_coding		176		chr17	TogoVar
RELCH_chr18_62182255_62315249	62312317	T T	TAGACATC others(41): Show TAGACATCCCTGAAAGTCCCCCAAACTCATACTTGAGTTTGCTAAGACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0167 a0001c0001t0025g0167	1	338	0.0030	48	c.67 others(59): Show c.6783_*6784insAGACATCCCTGAAAGTCCCCCAAACTCATACTTG AGTTTGCTAAGACC	RELCH	ENSG00000134444.15	transcript	ENST00000644646.2	protein_coding		2069		chr18	TogoVar
REM1_chr20_31470288_31489895	31470610	C C	CCCCCCCA others(41): Show CCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00438.hp1 others(105): Show HG00280.hp2 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00621.hp2 HG00733.hp2 HG00738.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01243.hp2 HG01255.hp2 HG01257.hp2 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01433.hp2 HG01515.hp2 HG01516.hp2 HG01884.hp1 HG01891.hp1 HG01934.hp2 HG01975.hp1 HG02040.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp2 HG02717.hp2 HG02818.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03710.hp2 HG03834.hp2 HG04228.hp2 NA18947.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18955.hp1 NA18956.hp1 NA18957.hp2 NA18965.hp1 NA18970.hp2 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18981.hp2 NA18997.hp1 NA19009.hp2 NA19010.hp1 NA19043.hp2 NA19056.hp2 NA19059.hp1 NA19066.hp1 NA19070.hp1 NA19075.hp2 NA19079.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp2 NA21309.hp2	a0002 a0005 a0006 others(1): Show a0002 a0005 a0006 a0011	a0002c0002 a0002c0003 a0005c0006 others(2): Show a0002c0002 a0002c0003 a0005c0006 a0006c0012 a0011c0010	a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 others(6): Show a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0002c0003t0001 a0002c0003t0002 a0002c0003t0006 a0005c0006t0002 a0006c0012t0001 a0011c0010t0001	a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0006 others(36): Show a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0006 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0014 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0030 a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0037 a0002c0002t0001g0058 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0071 a0002c0002t0003g0061 a0002c0002t0004g0010 a0002c0003t0001g0002 a0002c0003t0001g0004 a0002c0003t0001g0024 a0002c0003t0001g0025 a0002c0003t0001g0043 a0002c0003t0001g0079 a0002c0003t0002g0002 a0002c0003t0002g0004 a0002c0003t0002g0044 a0002c0003t0006g0002 a0005c0006t0002g0023 a0006c0012t0001g0041 a0011c0010t0001g0002	108	332	0.3253	48	c.-49 others(59): Show c.-4976_-4975insCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCC GGGCGGGGGGCTGA	REM1	ENSG00000088320.4	transcript	ENST00000201979.3	protein_coding		4677		chr20	TogoVar
REM1_chr20_31470288_31489895	31470610	C C	CCCCCCCA others(41): Show CCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGTGGGGGGCTGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG02818.hp2 HG02896.hp2 others(1): Show HG01891.hp2 HG02818.hp2 HG02896.hp2 HG02897.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0003	4	228	0.0175	48	c.-49 others(59): Show c.-4976_-4975insCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCC GGGTGGGGGGCTGA	REM1	ENSG00000088320.4	transcript	ENST00000201979.3	protein_coding		4677		chr20	TogoVar
REPS2_chrX_16941658_17158272	17050141	C C	CCTTCCTT others(41): Show CCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	50	0.0200	48	c.908 others(65): Show c.908-2238_908-2237insCCTTCCTTCCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTT	REPS2	ENSG00000169891.18	transcript	ENST00000357277.8	protein_coding	6/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
RERE_chr1_8347404_8822640	8501886	G G	GGGGGGGT others(41): Show GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	56	0.0179	48	c.880 others(65): Show c.880-4358_880-4357insACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCC	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	8/22			chr1	TogoVar
RERG_chr12_15102783_15226417	15161138	A A	AAAAGAAA others(41): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0066 a0001c0001t0002g0066	1	74	0.0135	48	c.62- others(65): Show c.62-40067_62-40020dupCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTT	RERG	ENSG00000134533.6	transcript	ENST00000256953.6	protein_coding	2/4			chr12	TogoVar
REST_chr4_56902900_56940844	56905347	T T	TATATATA others(41): Show TATATATATATATATATATATATATATATATATATATATATATATATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01169.hp1 HG01257.hp1 HG01258.hp1 others(19): Show HG01169.hp1 HG01257.hp1 HG01258.hp1 HG01496.hp1 HG01981.hp2 HG02040.hp1 HG02040.hp2 HG02083.hp1 HG02165.hp2 HG02258.hp2 HG02273.hp1 HG02293.hp1 HG02965.hp1 HG03516.hp2 HG03654.hp1 NA18941.hp2 NA18956.hp2 NA18965.hp2 NA19006.hp2 NA19009.hp1 NA19075.hp2 NA19086.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0008 a0002c0002 others(1): Show a0001c0001 a0001c0008 a0002c0002 a0003c0003	a0001c0001t0004 a0001c0008t0008 a0002c0002t0001 others(3): Show a0001c0001t0004 a0001c0008t0008 a0002c0002t0001 a0002c0002t0029 a0002c0002t0034 a0003c0003t0002	a0001c0001t0004g0005 a0001c0001t0004g0017 a0001c0001t0004g0073 others(17): Show a0001c0001t0004g0005 a0001c0001t0004g0017 a0001c0001t0004g0073 a0001c0001t0004g0077 a0001c0001t0004g0084 a0001c0008t0008g0088 a0002c0002t0001g0012 a0002c0002t0001g0204 a0002c0002t0001g0297 a0002c0002t0029g0049 a0002c0002t0034g0296 a0003c0003t0002g0001 a0003c0003t0002g0007 a0003c0003t0002g0032 a0003c0003t0002g0059 a0003c0003t0002g0114 a0003c0003t0002g0118 a0003c0003t0002g0123 a0003c0003t0002g0132 a0003c0003t0002g0133	22	167	0.1317	48	c.-28 others(59): Show c.-2876_-2875insATATATATATATATATATATATATATATATATAT ATATATATATATAA	REST	ENSG00000084093.19	transcript	ENST00000309042.12	protein_coding		2552		chr4	TogoVar
RFC1_chr4_39282456_39371362	39329127	C C	CAAAAAAA others(41): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0154 a0001c0002t0002g0154	1	18	0.0556	48	c.332 others(65): Show c.332-1372_332-1371insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTT	RFC1	ENSG00000035928.17	transcript	ENST00000349703.7	protein_coding	4/24			chr4	TogoVar

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