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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
ROCK2_chr2_11174759_11349636	11295990	G G	GAGGAGAG others(26): Show GAGGAGAGAGAGAGAGAGGGGAGAGGGGGAGAGA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp1 HG01168.hp2 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0221 a0001c0001t0001g0213 a0001c0001t0001g0221	2	218	0.0092	33	c.142 others(50): Show c.142-8255_142-8254insTCTCTCCCCCTCTCCCCTCTCTCTCTCT CTCCT		ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32						chr2	TogoVar
ROCK2_chr2_11174759_11349636	11296005	G G	GGGGAGAG others(26): Show GGGGAGAGGGGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	46	0.0217	33	c.142 others(50): Show c.142-8270_142-8269insTCTCTCTCTCTCTCTCTCTCTCTCCCCT CTCCC		ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32						chr2	TogoVar
ROCK2_chr2_11174759_11349636	11317612	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0257 a0001c0001t0009g0257	1	66	0.0152	33	c.141 others(52): Show c.141+26383_141+26384insAAAAAAATATATATATATATATATAT ATATATA		ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32						chr2	TogoVar
ROPN1_chr3_123964015_123997124	123986018	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0109 a0001c0002t0001g0109	1	17	0.0588	33	c.-12 others(50): Show c.-12-5526_-12-5525insATTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT		ROPN1	ENSG00000065371.18	transcript	ENST00000405845.8	protein_coding	1/5						chr3	TogoVar
ROR1_chr1_63769017_64186498	63906564	T T	TAGTAAGT others(26): Show TAGTAAGTGTCCAGAGGGTAATTACCCAGGTGCA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0008 a0001c0008t0001g0008	1	96	0.0104	33	c.92- others(52): Show c.92-102740_92-102708dupAGTAAGTGTCCAGAGGGTAATTACCC AGGTGCA		ROR1	ENSG00000185483.13	transcript	ENST00000371079.6	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr1	TogoVar
ROR1_chr1_63769017_64186498	64053965	A A	ATTTTATT others(26): Show ATTTTATTTTATTTTATTTTATTTTATTTTATTT	intron_variant intron_variant	MODIFIER	HG03453.hp1 NA19030.hp1 HG03453.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0008t0001 a0001c0001t0001 a0001c0008t0001	a0001c0001t0001g0015 a0001c0008t0001g0008 a0001c0001t0001g0015 a0001c0008t0001g0008	2	88	0.0227	33	c.482 others(50): Show c.482+3253_482+3254insATTTTATTTTATTTTATTTTATTTTATT TTTTT		ROR1	ENSG00000185483.13	transcript	ENST00000371079.6	protein_coding	4/8					INFO_REALIGN_3_PRIME	chr1	TogoVar
RORA_chr15_60483284_61234302	61053863	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0098 a0001c0001t0017g0098	1	117	0.0085	33	c.166 others(54): Show c.166+175189_166+175190insATATATATATATATATATATATAT ATATATATA		RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	1/10						chr15	TogoVar
RORB_chr9_74492335_74698177	74549529	G G	GAGGGAGG others(26): Show GAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0064 a0001c0001t0034g0064	1	224	0.0045	33	c.7+5 others(48): Show c.7+51567_7+51568insGGGAAGGAAGGAAGGGAGGGAGGGAGGGAG GGA		RORB	ENSG00000198963.11	transcript	ENST00000376896.8	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr9	TogoVar
RPA3_chr7_7631518_7723607	7637703	A A	AAACTGTA others(26): Show AAACTGTATGTTATGTAATTACATACAGTTATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01496.hp1 HG00140.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0194 a0001c0001t0001g0191 a0001c0001t0001g0194	2	306	0.0065	33	c.283 others(48): Show c.283+128_283+160dupATATAACTGTATGTAATTACATAACATACA GTT		RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	7/7						chr7	TogoVar
RPA3_chr7_7631518_7723607	7679474	T T	TTATATAT others(26): Show TTATATATTTAGTTTATAGATAAATATATATTTA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0188 a0001c0001t0007g0188	1	40	0.0250	33	c.-75 others(52): Show c.-758+6355_-758+6356insTAAATATATATTTATCTATAAACTAA ATATATA		RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7						chr7	TogoVar
RPA3_chr7_7631518_7723607	7679711	A A	AATATATA others(26): Show AATATATATTTATATATTTAATTTATAGATAAAT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0051 a0001c0001t0004g0051	1	272	0.0037	33	c.-75 others(52): Show c.-758+6118_-758+6119insATTTATCTATAAATTAAATATATAAA TATATAT		RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7						chr7	TogoVar
RPAP2_chr1_92294059_92407056	92305432	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00639.hp2 NA18942.hp1 others(2): Show HG00280.hp1 HG00639.hp2 NA18942.hp1 NA19001.hp1 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0041 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0041 a0001c0001t0056	a0001c0001t0002g0066 a0001c0001t0002g0097 a0001c0001t0004g0068 others(2): Show a0001c0001t0002g0066 a0001c0001t0002g0097 a0001c0001t0004g0068 a0001c0001t0041g0096 a0001c0001t0056g0098	5	55	0.0909	33	c.399 others(50): Show c.399+1102_399+1103insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA		RPAP2	ENSG00000122484.9	transcript	ENST00000610020.2	protein_coding	5/12					INFO_REALIGN_3_PRIME	chr1	TogoVar
RPH3AL_chr17_207389_357807	215978	C C	CCACCCAC others(26): Show CCACCCACATGGCTGCCGGGCTCTGGCCTGACCT	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0037 a0001c0001t0015g0037	1	95	0.0105	33	c.728 others(48): Show c.728-177_728-176insAGGTCAGGCCAGAGCCCGGCAGCCATGTGG GTG		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	8/9						chr17	TogoVar
RPH3AL_chr17_207389_357807	216044	T T	TCACCCAC others(26): Show TCACCCACATGGCTGCCGGGCTCTGGCCTGACCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp2 others(7): Show HG00099.hp1 HG00140.hp1 HG00280.hp2 HG00323.hp2 HG01258.hp2 HG01358.hp1 HG02027.hp1 HG02074.hp1 HG02155.hp1 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0001t0016	a0001c0001t0001g0040 a0001c0001t0001g0065 a0001c0001t0001g0085 others(7): Show a0001c0001t0001g0040 a0001c0001t0001g0065 a0001c0001t0001g0085 a0001c0001t0002g0111 a0001c0001t0002g0116 a0001c0001t0003g0096 a0001c0001t0011g0003 a0001c0001t0011g0007 a0001c0001t0011g0056 a0001c0001t0016g0081	10	132	0.0758	33	c.728 others(48): Show c.728-275_728-243dupGGGTCAGGCCAGAGCCCGGCAGCCATGTGG GTG		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	8/9						chr17	TogoVar
RPH3AL_chr17_207389_357807	216077	C C	CCACCCAC others(26): Show CCACCCACATGGCTGCCGGGCTCTGGCCTGACCT	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0037 a0001c0001t0015g0037	1	101	0.0099	33	c.728 others(48): Show c.728-308_728-276dupAGGTCAGGCCAGAGCCCGGCAGCCATGTGG GTG		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	8/9						chr17	TogoVar
RPH3AL_chr17_207389_357807	216209	C C	CCACCCAC others(26): Show CCACCCACATGGCTGCCGGGCTCTGGCCTGACCT	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0037 a0001c0001t0015g0037	1	98	0.0102	33	c.728 others(48): Show c.728-440_728-408dupAGGTCAGGCCAGAGCCCGGCAGCCATGTGG GTG		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	8/9						chr17	TogoVar
RPH3AL_chr17_207389_357807	243179	C C	CCTTCCTC others(26): Show CCTTCCTCTATTGACTACCTTCCTCTATTGACTA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0101 a0001c0001t0003g0101	1	132	0.0076	33	c.613 others(50): Show c.613+3931_613+3932insTAGTCAATAGAGGAAGGTAGTCAATAGA GGAAG		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9						chr17	TogoVar
RPH3A_chr12_112786748_112903881	112791867	G G	GAGAGAGA others(26): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0062 a0001c0002t0062	a0001c0002t0062g0187 a0001c0002t0062g0187	1	7	0.1429	33	c.-28 others(42): Show c.-285_-284insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA		RPH3A	ENSG00000089169.15	transcript	ENST00000389385.9	protein_coding	1/22				36451		chr12	TogoVar
RPL10_chrX_154393377_154407332	154396712	A A	ATATATAT others(26): Show ATATATATATATATATATATATTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0004 a0002c0002t0002g0004	1	155	0.0065	33	c.-17 others(44): Show c.-1706_-1705insTATATATATATATATATATATTTTTTTTTTTTT		RPL10	ENSG00000147403.18	transcript	ENST00000369817.7	protein_coding					1664		chrX	TogoVar
RPL10_chrX_154393377_154407332	154396712	A A	ATATATAT others(26): Show ATATATATATATATATATTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0004 a0002c0002t0002g0004	1	155	0.0065	33	c.-17 others(44): Show c.-1706_-1705insTATATATATATATATATTTTTTTTTTTTTTTTT		RPL10	ENSG00000147403.18	transcript	ENST00000369817.7	protein_coding					1664		chrX	TogoVar
RPL14_chr3_40452339_40473587	40462029	A A	ACTGCTGC others(26): Show ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA18948.hp2 NA18965.hp1 NA18994.hp1 NA18948.hp2 NA18965.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	3	33	0.0909	33	c.477 others(40): Show c.477_478insGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	p.Ala others(46): Show p.Ala159_Lys160insAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAl a	RPL14	ENSG00000188846.14	transcript	ENST00000396203.7	protein_coding	6/6	611/7136	478/648	160/215		INFO_REALIGN_3_PRIME	chr3	TogoVar
RPL30_chr8_98036721_98050545	98037419	T T	TATATATA others(26): Show TATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18984.hp1 NA18984.hp2 NA18984.hp1 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	440	0.0045	33	c.43 others(44): Show c.4381_*4382insTATATATATATATATATATATATATATATATAT		RPL30	ENSG00000156482.11	transcript	ENST00000287038.8	protein_coding					4301		chr8	TogoVar
RPRD2_chr1_150359147_150481566	150431473	A A	ATTTTTTT others(26): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03225.hp2 HG03098.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0054 a0001c0001t0001g0055	2	33	0.0606	33	c.336 others(50): Show c.336-9426_336-9425insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT		RPRD2	ENSG00000163125.16	transcript	ENST00000369068.5	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr1	TogoVar
RPS6KA2_chr6_166404364_166632251	166480477	T T	TATATATA others(26): Show TATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00642.hp1 NA19009.hp1 HG00642.hp1 NA19009.hp1	a0001 a0001	a0001c0005 a0001c0007 a0001c0005 a0001c0007	a0001c0005t0003 a0001c0007t0003 a0001c0005t0003 a0001c0007t0003	a0001c0005t0003g0132 a0001c0007t0003g0130 a0001c0005t0003g0132 a0001c0007t0003g0130	2	217	0.0092	33	c.907 others(50): Show c.907+8355_907+8356insTATATATATATATATATATATATATATA TATAT		RPS6KA2	ENSG00000071242.12	transcript	ENST00000265678.9	protein_coding	10/20						chr6	TogoVar
RPS6KA2_chr6_166404364_166632251	166480479	T T	TTATATAT others(26): Show TTATATATATATATAATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02965.hp2 NA19043.hp2 HG02965.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0036 a0001c0011t0001 a0001c0001t0036 a0001c0011t0001	a0001c0001t0036g0215 a0001c0011t0001g0082 a0001c0001t0036g0215 a0001c0011t0001g0082	2	22	0.0909	33	c.907 others(50): Show c.907+8353_907+8354insTATATATATATATATATATTATATATAT ATATA		RPS6KA2	ENSG00000071242.12	transcript	ENST00000265678.9	protein_coding	10/20						chr6	TogoVar
RPSA2_chr19_23758004_23833868	23761906	T T	TCTCTCTC others(26): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 NA18942.hp2 NA18993.hp2 HG00621.hp1 NA18942.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0128 a0001c0001t0129 a0001c0001t0044 a0001c0001t0128 a0001c0001t0129	a0001c0001t0044g0273 a0001c0001t0128g0268 a0001c0001t0129g0274 a0001c0001t0044g0273 a0001c0001t0128g0268 a0001c0001t0129g0274	3	255	0.0118	33	c.-15 others(44): Show c.-1531_-1530insCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCGC		RPSA2	ENSG00000288920.1	transcript	ENST00000484897.4	protein_coding					1097		chr19	TogoVar
RPTOR_chr17_80539838_80971368	80685627	A A	ATATATAT others(26): Show ATATATATATATATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0010 a0001c0026t0010	a0001c0026t0010g0044 a0001c0026t0010g0044	1	38	0.0263	33	c.349 others(52): Show c.349-22213_349-22212insATATATATATATTTTTTTTTTTTTTT TTTTTTT		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RREB1_chr6_7102961_7256980	7103356	C C	CATATAAT others(26): Show CATATAATATATAATATTATATATAATATAATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp1 HG02040.hp1 HG02129.hp1 others(3): Show HG01099.hp1 HG02040.hp1 HG02129.hp1 HG02922.hp2 NA18522.hp2 NA19056.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0027	a0001c0001 a0002c0004 a0002c0007 others(2): Show a0001c0001 a0002c0004 a0002c0007 a0004c0006 a0027c0049	a0001c0001t0001 a0002c0004t0012 a0002c0007t0012 others(2): Show a0001c0001t0001 a0002c0004t0012 a0002c0007t0012 a0004c0006t0018 a0027c0049t0002	a0001c0001t0001g0255 a0002c0004t0012g0122 a0002c0007t0012g0120 others(3): Show a0001c0001t0001g0255 a0002c0004t0012g0122 a0002c0007t0012g0120 a0002c0007t0012g0121 a0004c0006t0018g0057 a0027c0049t0002g0062	6	211	0.0284	33	c.-49 others(44): Show c.-4989_-4988insATATAATATATAATATTATATATAATATAATAT		RREB1	ENSG00000124782.21	transcript	ENST00000379938.7	protein_coding					4604		chr6	TogoVar
RRM1_chr11_4089799_4143932	4130086	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0207 a0001c0001t0005g0207	1	324	0.0031	33	c.176 others(50): Show c.1769+937_1769+938insATATATATATATATATATATATATATAT ATATT		RRM1	ENSG00000167325.15	transcript	ENST00000300738.10	protein_coding	15/18					INFO_REALIGN_3_PRIME	chr11	TogoVar
RSBN1L_chr7_77691459_77788022	77725243	A A	AATTTTTT others(26): Show AATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0199 a0001c0001t0005g0199	1	329	0.0030	33	c.587 others(52): Show c.587-11167_587-11166insATTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT		RSBN1L	ENSG00000187257.16	transcript	ENST00000334955.13	protein_coding	1/7						chr7	TogoVar
RSBN1L_chr7_77691459_77788022	77725244	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0192 a0001c0001t0003g0192	1	101	0.0099	33	c.587 others(52): Show c.587-11145_587-11144insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT		RSBN1L	ENSG00000187257.16	transcript	ENST00000334955.13	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr7	TogoVar
RSF1_chr11_77655009_77825722	77658011	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0292 a0001c0001t0001g0292	1	6	0.1667	33	c.89 others(44): Show c.8905_*8906insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT		RSF1	ENSG00000048649.14	transcript	ENST00000308488.11	protein_coding					1997		chr11	TogoVar
RSPH1_chr21_42467486_42501224	42476973	T T	TGGGGATG others(26): Show TGGGGATGCCCCACACCCTCTGTCCCATAGCCCG	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	332	0.0030	33	c.727 others(48): Show c.727+317_727+318insCGGGCTATGGGACAGAGGGTGTGGGGCATC CCC		RSPH1	ENSG00000160188.10	transcript	ENST00000291536.8	protein_coding	7/8						chr21	TogoVar
RSPH3_chr6_158967871_159005202	158984475	T T	TATATATA others(26): Show TATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0161 a0002c0002t0002g0161	1	294	0.0034	33	c.347 others(48): Show c.347-669_347-668insTATATATATATATATATATATATATATATA TAT		RSPH3	ENSG00000130363.13	transcript	ENST00000367069.7	protein_coding	3/7						chr6	TogoVar
RSRC1_chr3_158105089_158550730	158106620	A A	AGAGAGAG others(26): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	261	0.0038	33	c.-36 others(44): Show c.-3606_-3605insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG		RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding					3468		chr3	TogoVar
RSRC1_chr3_158105089_158550730	158549528	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0251 a0001c0001t0002g0251	1	128	0.0078	33	c.52 others(44): Show c.5253_*5254insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAT		RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding					3799		chr3	TogoVar
RTN1_chr14_59590983_59875776	59750423	A A	AATATATC others(26): Show AATATATCTATAATATATAATATATCTATAATAT	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	170	0.0059	33	c.242 others(50): Show c.242-3975_242-3943dupATATTATAGATATATTATATATTATAGA TATAT		RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	1/8						chr14	TogoVar
RTN3_chr11_63676500_63764882	63685495	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0036 a0002c0002t0002g0036	1	8	0.1250	33	c.142 others(50): Show c.142+3731_142+3732insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA		RTN3	ENSG00000133318.14	transcript	ENST00000377819.10	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr11	TogoVar
RTN4RL1_chr17_1929677_2030334	1988844	C C	CCGCATGT others(26): Show CCGCATGTGTGAGGGCCTCGAGTGCGCGGGGAGA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0375 a0001c0002t0017g0375	1	382	0.0026	33	c.13+ others(50): Show c.13+36008_13+36009insTCTCCCCGCGCACTCGAGGCCCTCACAC ATGCG		RTN4RL1	ENSG00000185924.7	transcript	ENST00000331238.7	protein_coding	1/1						chr17	TogoVar
RUNDC3B_chr7_87623398_87837296	87626387	T T	TATATGTG others(26): Show TATATGTGTCATATATATGTGTCATATATGTGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0054	a0001c0001t0054g0138 a0001c0001t0054g0138	1	196	0.0051	33	c.-24 others(44): Show c.-2437_-2436insATATGTGTCATATATATGTGTCATATATGTGTC		RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding					2010		chr7	TogoVar
RUNX1_chr21_34782801_35054302	34931343	T T	TATATATA others(26): Show TATATATACATGTGTATATATATGTGTATATATA	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	168	0.0060	33	c.59- others(50): Show c.59-38413_59-38381dupTATATATACACATATATATACACATGTA TATAT		RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8						chr21	TogoVar
RUNX1_chr21_34782801_35054302	34967319	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0095 a0001c0001t0002g0095	1	14	0.0714	33	c.59- others(50): Show c.59-74389_59-74357dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT		RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8						chr21	TogoVar
RWDD4_chr4_183634635_183664185	183638510	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp2 HG03139.hp1 HG03098.hp2 HG03139.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0051 a0001c0005t0002g0052 a0001c0005t0002g0051 a0001c0005t0002g0052	2	468	0.0043	33	c.29 others(44): Show c.2925_*2926insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT		RWDD4	ENSG00000182552.15	transcript	ENST00000326397.10	protein_coding					1124		chr4	TogoVar
RWDD4_chr4_183634635_183664185	183643415	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18964.hp1 NA19076.hp1 NA18955.hp2 NA18964.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0297 a0001c0001t0001g0335 a0001c0001t0001g0085 a0001c0001t0001g0297 a0001c0001t0001g0335	3	7	0.4286	33	c.535 others(50): Show c.535-1948_535-1947insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT		RWDD4	ENSG00000182552.15	transcript	ENST00000326397.10	protein_coding	7/7						chr4	TogoVar
RXFP1_chr4_158516882_158658372	158542109	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	25	0.0400	33	c.49+ others(50): Show c.49+20085_49+20086insATATATATATATATATATATATATATAT TTTTT		RXFP1	ENSG00000171509.16	transcript	ENST00000307765.10	protein_coding	1/17					INFO_REALIGN_3_PRIME	chr4	TogoVar
RXFP3_chr5_33931386_33943918	33935020	T T	TTTTCTTT others(26): Show TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02723.hp1 HG02145.hp1 HG02723.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0000 a0001c0003t0007g0000	2	100	0.0200	33	c.-17 others(44): Show c.-1721_-1720insTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTC		RXFP3	ENSG00000182631.7	transcript	ENST00000330120.5	protein_coding					1365		chr5	TogoVar
RYR1_chr19_38428691_38592564	38584653	T T	TATCCTGG others(26): Show TATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0059 a0001c0059	a0001c0059t0001 a0001c0059t0001	a0001c0059t0001g0193 a0001c0059t0001g0193	1	216	0.0046	33	c.146 others(52): Show c.14647-264_14647-232dupTGCCCCCCATCCTGGCCCTGACCCCT CTGCCTG		RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding	101/105					INFO_REALIGN_3_PRIME	chr19	TogoVar
RYR3_chr15_33305967_33871102	33794348	A A	ACATATAT others(26): Show ACATATATTATATATATATAACATATATATATGT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0084 a0001c0084	a0001c0084t0003 a0001c0084t0003	a0001c0084t0003g0059 a0001c0084t0003g0059	1	74	0.0135	33	c.983 others(52): Show c.9830+5890_9830+5891insCATATATTATATATATATAACATATA TATATGT		RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	67/103						chr15	TogoVar
S100B_chr21_46593604_46610082	46603392	A A	AGGGGGTG others(26): Show AGGGGGTGGGGGAGGGAGGGGGGGGGCGGGGGGG	intron_variant intron_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	41	0.0244	33	c.-1- others(46): Show c.-1-977_-1-976insCCCCCCCGCCCCCCCCCTCCCTCCCCCACCCC C		S100B	ENSG00000160307.10	transcript	ENST00000291700.9	protein_coding	1/2						chr21	TogoVar
S100B_chr21_46593604_46610082	46603392	A A	AGGGGGTG others(26): Show AGGGGGTGGGGGGAGGGGGGGGGCGGGGGGGGGG	intron_variant intron_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	41	0.0244	33	c.-1- others(46): Show c.-1-977_-1-976insCCCCCCCCCCGCCCCCCCCCTCCCCCCACCCC C		S100B	ENSG00000160307.10	transcript	ENST00000291700.9	protein_coding	1/2						chr21	TogoVar

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