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
RAB23_chr6_57181992_57227307	57212279	G G	GGTCTGGG others(44): Show GGTCTGGGGCTCCCCATCAGACTAGCTGAGATTTTTTCAGAAATGCACTG CA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0039 a0001c0001t0003g0039	1	244	0.0041	51	c.-65 others(68): Show c.-65-1885_-65-1835dupTGCAGTGCATTTCTGAAAAAATCTCAGC TAGTCTGATGGGGAGCCCCAGAC	RAB23	ENSG00000112210.12	transcript	ENST00000468148.6	protein_coding	1/6			chr6	TogoVar
RAB3GAP2_chr1_220143293_220277453	220226722	G G	GCCCAATT others(44): Show GCCCAATTCAGTACACTTGCCAATGTACTGACTTGTGTCCCCTTGCCCCC AC	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0171 a0001c0001t0002g0171	1	376	0.0027	51	c.180 others(68): Show c.180+6026_180+6076dupGTGGGGGCAAGGGGACACAAGTCAGTAC ATTGGCAAGTGTACTGAATTGGG	RAB3GAP2	ENSG00000118873.17	transcript	ENST00000358951.7	protein_coding	2/34			chr1	TogoVar
RAB3IL1_chr11_61892301_61922566	61913460	A A	ATGGTGGG others(44): Show ATGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG GG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	390	0.0026	51	c.11+ others(66): Show c.11+3896_11+3897insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC CCCCCCCCCCCCCCCCCACCA	RAB3IL1	ENSG00000167994.13	transcript	ENST00000394836.7	protein_coding	1/9			chr11	TogoVar
RAB7A_chr3_128721183_128819798	128795751	C C	CTTTTTTT others(44): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	3	0.3333	51	c.53+ others(64): Show c.53+348_53+349insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTT	RAB7A	ENSG00000075785.14	transcript	ENST00000265062.8	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
RAB7B_chr1_205971740_206008395	205985778	T T	TCAGGCCC others(44): Show TCAGGCCCACCAGGCCCACCATCCCCACCAGGCCCACCAGGCCCACCATC CC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	223	0.0045	51	c.397 others(66): Show c.397-114_397-113insGGGATGGTGGGCCTGGTGGGCCTGGTGGGG ATGGTGGGCCTGGTGGGCCTG	RAB7B	ENSG00000276600.5	transcript	ENST00000617070.5	protein_coding	4/5			chr1	TogoVar
RAB7B_chr1_205971740_206008395	205985782	C C	CACCAGGC others(44): Show CACCAGGCCCACCATCCCCACCATCCCCACCAGGCCCACCATCCCCACCA GG	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG02572.hp2 HG03540.hp2 others(4): Show HG01515.hp2 HG02572.hp2 HG03540.hp2 HG03579.hp1 HG06807.hp2 NA18906.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 a0001c0001t0001 a0001c0001t0006 a0001c0001t0008	a0001c0001t0001g0265 a0001c0001t0006g0072 a0001c0001t0006g0085 others(4): Show a0001c0001t0001g0265 a0001c0001t0006g0072 a0001c0001t0006g0085 a0001c0001t0006g0088 a0001c0001t0006g0107 a0001c0001t0006g0240 a0001c0001t0008g0104	7	62	0.1129	51	c.397 others(66): Show c.397-118_397-117insCCTGGTGGGGATGGTGGGCCTGGTGGGGAT GGTGGGGATGGTGGGCCTGGT	RAB7B	ENSG00000276600.5	transcript	ENST00000617070.5	protein_coding	4/5			chr1	TogoVar
RABGAP1L_chr1_174154520_175000308	174833466	A A	ATATATAT others(44): Show ATATATATATATATATATATATATATATATATATATATATATATATATAT AT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG02965.hp1 others(4): Show HG00099.hp1 HG00280.hp2 HG02965.hp1 HG03688.hp2 HG04204.hp2 NA18994.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0028 a0001c0001t0001 a0001c0001t0009 a0001c0001t0028	a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0018 others(4): Show a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0018 a0001c0001t0001g0040 a0001c0001t0001g0056 a0001c0001t0009g0065 a0001c0001t0028g0181	7	101	0.0693	51	c.234 others(72): Show c.2340+21508_2340+21509insTATATATATATATATATATATATA TATATATATATATATATATATATATTA	RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	19/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
RAD51B_chr14_67814779_68483093	68260318	T T	TGTGTGTG others(44): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGAGGGGGGGG GG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	60	0.0167	51	c.757 others(70): Show c.757-31565_757-31564insTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGGAGGGGGGGGGGG	RAD51B	ENSG00000182185.19	transcript	ENST00000471583.6	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
RADIL_chr7_4792055_4888716	4886300	A A	ATATATAT others(44): Show ATATATATATATATATATATATATATATATATATACATATATATATATAT TT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0007 a0007	a0007c0043 a0007c0043	a0007c0043t0046 a0007c0043t0046	a0007c0043t0046g0135 a0007c0043t0046g0135	1	234	0.0043	51	c.-27 others(62): Show c.-2770_-2769insAAATATATATATATATGTATATATATATATATAT ATATATATATATATATA	RADIL	ENSG00000157927.17	transcript	ENST00000399583.4	protein_coding		2585		chr7	TogoVar
RADIL_chr7_4792055_4888716	4886301	T T	TATATATA others(44): Show TATATATATATATATATATATATATACATATACATATATATATATATATA TA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0025 a0025	a0025c0053 a0025c0053	a0025c0053t0061 a0025c0053t0061	a0025c0053t0061g0189 a0025c0053t0061g0189	1	184	0.0054	51	c.-27 others(62): Show c.-2771_-2770insTATATATATATATATATATGTATATGTATATATA TATATATATATATATAT	RADIL	ENSG00000157927.17	transcript	ENST00000399583.4	protein_coding		2586		chr7	TogoVar
RAE1_chr20_57346255_57384202	57350857	C C	CGGGGGGG others(44): Show CGGGGGGGGCGGGGGGACGGGGGGCGGGGGGGGCGGGGGGGGCGGGGGGG CG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	209	0.0048	51	c.-57 others(60): Show c.-573_-572insGGGGGGGGCGGGGGGACGGGGGGCGGGGGGGGCGGG GGGGGCGGGGGGGCG	RAE1	ENSG00000101146.13	transcript	ENST00000395841.7	protein_coding		397		chr20	TogoVar
RAF1_chr3_12578601_12669117	12641860	A A	AAATAGTC others(44): Show AAATAGTCCCATAGGAACCCAGTGTGGTGGCTCACGCCTGTAATCCCAGC CT	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	260	0.0038	51	c.-27 others(70): Show c.-27+21902_-27+21952dupAGGCTGGGATTACAGGCGTGAGCCAC CACACTGGGTTCCTATGGGACTATT	RAF1	ENSG00000132155.14	transcript	ENST00000251849.9	protein_coding	1/16			chr3	TogoVar
RANBP6_chr9_6006025_6020624	6020105	T T	TCACAAAA others(44): Show TCACAAAAGAAGTGAAAATGGCCTGTTCCTGCCTTAACTGATGACATTCC AA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	412	0.0024	51	c.-44 others(62): Show c.-4499_-4498insTTGGAATGTCATCAGTTAAGGCAGGAACAGGCCA TTTTCACTTCTTTTGTG	RANBP6	ENSG00000137040.10	transcript	ENST00000259569.6	protein_coding		4482		chr9	TogoVar
RASGRF1_chr15_78954906_79095780	78989433	C C	CCAGCACT others(44): Show CCAGCACTGTGGCCTCCTAACATTAAAGAGAATGTTTAATTAAACATTCG CT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0282 a0001c0002t0009g0282	1	312	0.0032	51	c.321 others(68): Show c.3216+705_3216+755dupAGCGAATGTTTAATTAAACATTCTCTTT AATGTTAGGAGGCCACAGTGCTG	RASGRF1	ENSG00000058335.16	transcript	ENST00000558480.7	protein_coding	22/26			chr15	TogoVar
RBBP6_chr16_24534566_24577863	24575786	G G	GGAGGGGG others(44): Show GGAGGGGGAGAGGGAGAGGGAGGAGAGGGAGGAGAGGGAGAGGGAGGAGG GA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0100 a0001c0002t0004g0100	1	298	0.0034	51	c.33 others(62): Show c.3341_*3342insGAGGGGGAGAGGGAGAGGGAGGAGAGGGAGGAGA GGGAGAGGGAGGAGGGA	RBBP6	ENSG00000122257.20	transcript	ENST00000319715.10	protein_coding		2924		chr16	TogoVar
RBFOX1_chr16_6014024_7718340	6806836	A A	ATATAAAT others(44): Show ATATAAATATATATATATATATATATATATATATATATATATATATATTT TT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	40	0.0250	51	c.-16 others(72): Show c.-16+152187_-16+152188insATAAATATATATATATATATATAT ATATATATATATATATATATATTTTTT	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX2_chr22_35733736_36033824	35735039	G G	GCATTCCA others(44): Show GCATTCCACCTGTGTGAAACTATGCGAGACCCGCGGATCCAGGCTCAGAA AA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	117	0.0085	51	c.91 others(62): Show c.9165_*9166insTTTTCTGAGCCTGGATCCGCGGGTCTCGCATAGT TTCACACAGGTGGAATG	RBFOX2	ENSG00000100320.24	transcript	ENST00000695854.1	protein_coding		3696		chr22	TogoVar
RBFOX2_chr22_35733736_36033824	35735039	G G	GTATTCCA others(44): Show GTATTCCACCTGTGTGAAACTATGCGAGACCCGCGGATCCAGGCTCAGAA AA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0035 a0001c0001t0002g0035	1	117	0.0085	51	c.91 others(62): Show c.9165_*9166insTTTTCTGAGCCTGGATCCGCGGGTCTCGCATAGT TTCACACAGGTGGAATA	RBFOX2	ENSG00000100320.24	transcript	ENST00000695854.1	protein_coding		3696		chr22	TogoVar
RBFOX2_chr22_35733736_36033824	35735052	G G	GTGAAACT others(44): Show GTGAAACTATGCGAGACCCGCGGATCCAGGCTCAGAAAACATTCCACCTG TC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp1 HG01884.hp1 HG02258.hp1 others(19): Show HG01516.hp1 HG01884.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp2 HG02559.hp2 HG02572.hp2 HG02717.hp1 HG02723.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03130.hp2 HG03486.hp1 HG06807.hp2 NA19030.hp1 NA19240.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0013 a0001c0001t0014	a0001c0001t0001g0065 a0001c0001t0002g0019 a0001c0001t0002g0025 others(19): Show a0001c0001t0001g0065 a0001c0001t0002g0019 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0036 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0005g0042 a0001c0001t0006g0094 a0001c0001t0007g0093 a0001c0001t0008g0003 a0001c0001t0008g0006 a0001c0001t0013g0080 a0001c0001t0014g0007	22	114	0.1930	51	c.91 others(62): Show c.9152_*9153insGACAGGTGGAATGTTTTCTGAGCCTGGATCCGCG GGTCTCGCATAGTTTCA	RBFOX2	ENSG00000100320.24	transcript	ENST00000695854.1	protein_coding		3683		chr22	TogoVar
RBFOX2_chr22_35733736_36033824	35735052	G G	GTGAAACT others(44): Show GTGAAACTATGTGAGACCCGCGGATCCAGGCTCAGAAAACATTCCACCTA TC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp2 HG03486.hp2 HG03516.hp1 HG02965.hp2 HG03486.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0021 a0001c0001t0006 a0001c0001t0021	a0001c0001t0006g0109 a0001c0001t0006g0110 a0001c0001t0021g0119 a0001c0001t0006g0109 a0001c0001t0006g0110 a0001c0001t0021g0119	3	95	0.0316	51	c.91 others(62): Show c.9152_*9153insGATAGGTGGAATGTTTTCTGAGCCTGGATCCGCG GGTCTCACATAGTTTCA	RBFOX2	ENSG00000100320.24	transcript	ENST00000695854.1	protein_coding		3683		chr22	TogoVar
RBM20_chr10_110639336_110844468	110816281	A A	AACCATCT others(44): Show AACCATCTCAACACCCCACCCAAACCCCTCACCTCCCCCGACACTACTGC AG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02809.hp2 HG02896.hp2 others(2): Show HG02559.hp2 HG02809.hp2 HG02896.hp2 HG02897.hp2 HG03098.hp2	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0002c0002 a0008c0022 a0001c0001 a0002c0002 a0008c0022	a0001c0001t0001 a0002c0002t0019 a0008c0022t0001 a0001c0001t0001 a0002c0002t0019 a0008c0022t0001	a0001c0001t0001g0118 a0001c0001t0001g0205 a0001c0001t0001g0206 others(2): Show a0001c0001t0001g0118 a0001c0001t0001g0205 a0001c0001t0001g0206 a0002c0002t0019g0002 a0008c0022t0001g0209	5	256	0.0195	51	c.255 others(70): Show c.2550+3356_2550+3357insACCCCTCACCTCCCCCGACACTACTG CAGACCATCTCAACACCCCACCCAA	RBM20	ENSG00000203867.8	transcript	ENST00000369519.4	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
RBM20_chr10_110639336_110844468	110816281	A A	AACCATCT others(44): Show AACCATCTCAACACCCCACCCAACCCCCTCACCTCCCCCGACACTACTGC AG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02258.hp1 HG02572.hp1 others(7): Show HG02257.hp2 HG02258.hp1 HG02572.hp1 HG02615.hp1 HG02896.hp1 HG02965.hp1 HG02976.hp1 HG03453.hp2 HG03486.hp1 NA20129.hp1	a0001 a0002 a0013 a0001 a0002 a0013	a0001c0001 a0001c0003 a0002c0002 others(2): Show a0001c0001 a0001c0003 a0002c0002 a0002c0004 a0013c0012	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0002c0002t0001 a0002c0002t0007 a0002c0004t0001 a0013c0012t0001	a0001c0001t0001g0181 a0001c0001t0001g0250 a0001c0001t0002g0210 others(7): Show a0001c0001t0001g0181 a0001c0001t0001g0250 a0001c0001t0002g0210 a0001c0003t0001g0052 a0002c0002t0001g0134 a0002c0002t0001g0186 a0002c0002t0001g0261 a0002c0002t0007g0253 a0002c0004t0001g0037 a0013c0012t0001g0056	10	261	0.0383	51	c.255 others(70): Show c.2550+3352_2550+3402dupCCCAACCCCCTCACCTCCCCCGACAC TACTGCAGACCATCTCAACACCCCA	RBM20	ENSG00000203867.8	transcript	ENST00000369519.4	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
RBM46_chr4_154776272_154833813	154807178	A A	AGTAGCAG others(44): Show AGTAGCAGTTCATAATTTTGCCACATGATGTCCCTAAATACATATTTTGA AT	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0124 a0001c0001t0002g0124	1	372	0.0027	51	c.140 others(70): Show c.1402+7655_1402+7705dupATATTTTGAATGTAGCAGTTCATAAT TTTGCCACATGATGTCCCTAAATAC	RBM46	ENSG00000151962.8	transcript	ENST00000281722.8	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
RBM5_chr3_50083919_50124021	50084990	A A	ACCCCCCC others(44): Show ACCCCCCCACCTCCCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGGCTG AC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	281	0.0036	51	c.-40 others(62): Show c.-4093_-4092insCCCCCCCACCTCCCTCCCGGACTGGGCGGCTGGC CGGGCGGGGGGGCTGAC	RBM5	ENSG00000003756.17	transcript	ENST00000347869.8	protein_coding		3928		chr3	TogoVar
RBM5_chr3_50083919_50124021	50112375	C C	CCAAAGCC others(44): Show CCAAAGCCCACATTTATCAATACTATACATTTTGTCCAGGTTAATTTCTG GA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	282	0.0035	51	c.145 others(70): Show c.1456-1008_1456-1007insCAAAGCCCACATTTATCAATACTATA CATTTTGTCCAGGTTAATTTCTGGA	RBM5	ENSG00000003756.17	transcript	ENST00000347869.8	protein_coding	17/24			chr3	TogoVar
RBP3_chr10_47343363_47362881	47362535	A A	AAGAAGTA others(44): Show AAGAAGTAGACAAAGCAGAAGACAAAAACGTAAAACACCCCAGGTCCGCA TC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0004 a0001c0002t0005g0004	1	416	0.0024	51	c.50 others(62): Show c.5078_*5079insAGAAGTAGACAAAGCAGAAGACAAAAACGTAAAA CACCCCAGGTCCGCATC	RBP3	ENSG00000265203.2	transcript	ENST00000584701.2	protein_coding		4655		chr10	TogoVar
RBP7_chr1_9992228_10021021	9998408	T T	TTTCTTTC others(44): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	368	0.0027	51	c.73+ others(66): Show c.73+1079_73+1080insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTT	RBP7	ENSG00000162444.12	transcript	ENST00000294435.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
RCC2_chr1_17401760_17444677	17431359	A A	AAAAATAT others(44): Show AAAAATATATATATATATATATATATATATATATATATATATATATATAT AT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0173 a0001c0002t0005g0173	1	144	0.0069	51	c.286 others(68): Show c.286-2161_286-2160insATATATATATATATATATATATATATAT ATATATATATATATATATATTTT	RCC2	ENSG00000179051.14	transcript	ENST00000375436.9	protein_coding	2/12			chr1	TogoVar
RCHY1_chr4_75474033_75519403	75487824	A A	ATATATAT others(44): Show ATATATATTCATAATATATATATTCATATATATATTCATAATATATATAT TC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00544.hp1 HG00621.hp2 others(68): Show HG00280.hp1 HG00544.hp1 HG00621.hp2 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01516.hp2 HG01891.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02015.hp2 HG02040.hp2 HG02155.hp2 HG02273.hp2 HG02280.hp2 HG02572.hp2 HG02735.hp2 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03490.hp1 HG03492.hp2 HG03516.hp1 HG03669.hp2 HG03688.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp1 NA18747.hp1 NA18945.hp1 NA18946.hp1 NA18947.hp1 NA18948.hp1 NA18951.hp2 NA18952.hp1 NA18961.hp1 NA18963.hp1 NA18965.hp1 NA18970.hp2 NA18974.hp2 NA18981.hp2 NA18984.hp2 NA18989.hp1 NA18991.hp1 NA18992.hp2 NA18994.hp1 NA18998.hp1 NA18999.hp2 NA19009.hp2 NA19010.hp1 NA19012.hp1 NA19060.hp1 NA19062.hp2 NA19063.hp2 NA19066.hp1 NA19067.hp2 NA19074.hp1 NA19075.hp1 NA19077.hp2 NA19079.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0021	a0001c0001t0001g0005 a0001c0001t0001g0015 a0001c0001t0001g0046 others(50): Show a0001c0001t0001g0005 a0001c0001t0001g0015 a0001c0001t0001g0046 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0266 a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0050 a0001c0001t0003g0077 a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0083 a0001c0001t0003g0085 a0001c0001t0003g0091 a0001c0001t0003g0093 a0001c0001t0003g0095 a0001c0001t0003g0104 a0001c0001t0003g0105 a0001c0001t0003g0112 a0001c0001t0003g0113 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0003g0129 a0001c0001t0003g0133 a0001c0001t0003g0134 a0001c0001t0003g0135 a0001c0001t0003g0138 a0001c0001t0003g0139 a0001c0001t0003g0140 a0001c0001t0003g0142 a0001c0001t0003g0143 a0001c0001t0003g0144 a0001c0001t0003g0145 a0001c0001t0003g0146 a0001c0001t0003g0147 a0001c0001t0008g0064 a0001c0001t0008g0067 a0001c0001t0008g0069 a0001c0001t0008g0072 a0001c0001t0008g0092 a0001c0001t0008g0094 a0001c0001t0021g0090	71	381	0.1864	51	c.657 others(68): Show c.657+2756_657+2757insGAATATATATATTATGAATATATATATG AATATATATATTATGAATATATA	RCHY1	ENSG00000163743.14	transcript	ENST00000324439.10	protein_coding	8/8			chr4	TogoVar
RCHY1_chr4_75474033_75519403	75487867	A A	ATATATAT others(44): Show ATATATATTCATAATATATATATTCATATATATATTCATTATATATATTC AT	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02080.hp2 HG02074.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0102 a0001c0001t0003g0103 a0001c0001t0003g0102 a0001c0001t0003g0103	2	384	0.0052	51	c.657 others(68): Show c.657+2713_657+2714insATGAATATATATAATGAATATATATATG AATATATATATTATGAATATATA	RCHY1	ENSG00000163743.14	transcript	ENST00000324439.10	protein_coding	8/8			chr4	TogoVar
RCOR1_chr14_102587649_102735561	102653984	T T	TTTCTTTC others(44): Show TTTCTTTCTTTCTTTGTTTCTTTCTTTCTTTCTTTGTTTCTTTGTTTCTT TG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0030 a0001c0001t0003g0030	1	281	0.0036	51	c.362 others(70): Show c.362-27909_362-27908insCTTTCTTTCTTTGTTTCTTTCTTTCT TTCTTTGTTTCTTTGTTTCTTTGTT	RCOR1	ENSG00000089902.10	transcript	ENST00000262241.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
RDX_chr11_110224441_110301614	110289956	C C	CAAAAAAA others(44): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0315 a0001c0001t0005g0315	1	93	0.0108	51	c.-65 others(68): Show c.-65+6510_-65+6511insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTT	RDX	ENSG00000137710.17	transcript	ENST00000645495.2	protein_coding	1/13			chr11	TogoVar
RERE_chr1_8347404_8822640	8501615	T T	TGGGGGGG others(44): Show TGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02970.hp2 HG02145.hp1 HG02970.hp2	a0001 a0001	a0001c0004 a0001c0009 a0001c0004 a0001c0009	a0001c0004t0040 a0001c0009t0041 a0001c0004t0040 a0001c0009t0041	a0001c0004t0040g0199 a0001c0009t0041g0198 a0001c0004t0040g0199 a0001c0009t0041g0198	2	200	0.0100	51	c.880 others(68): Show c.880-4087_880-4086insCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCC	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	8/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8501881	C C	CAGGTGGG others(44): Show CAGGTGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAG GG	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0148 a0001c0002t0002g0148	1	155	0.0065	51	c.880 others(68): Show c.880-4353_880-4352insCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCTGACCCCCCCCCACCT	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	8/22			chr1	TogoVar
REST_chr4_56902900_56940844	56905347	T T	TATATATA others(44): Show TATATATATATATATATATATATATATATATATATATATATATATATATA TA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0250 a0002c0002t0001g0250	1	146	0.0068	51	c.-28 others(62): Show c.-2876_-2875insATATATATATATATATATATATATATATATATAT ATATATATATATATATA	REST	ENSG00000084093.19	transcript	ENST00000309042.12	protein_coding		2552		chr4	TogoVar
RFLNA_chr12_124290093_124321024	124296092	C C	CTTTCTTT others(44): Show CTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTT CT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01934.hp1 HG02293.hp2 others(1): Show HG01074.hp1 HG01934.hp1 HG02293.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0361 a0001c0001t0001g0362 a0001c0001t0001g0364 others(1): Show a0001c0001t0001g0361 a0001c0001t0001g0362 a0001c0001t0001g0364 a0001c0001t0012g0363	4	377	0.0106	51	c.207 others(66): Show c.207+479_207+480insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT TCTTTCTTTCTTTCTTTCTTT	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
RFLNA_chr12_124290093_124321024	124296096	C C	CTTTCTTT others(44): Show CTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTT CT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01074.hp2 HG03704.hp2 HG00558.hp2 HG01074.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0001g0347 a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0001g0347	3	381	0.0079	51	c.207 others(66): Show c.207+483_207+484insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT TCTTTCTTTCTTTCTTTCTTT	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
RFLNA_chr12_124290093_124321024	124296124	C C	CTTTCTTT others(44): Show CTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0263 a0001c0002t0004g0263	1	213	0.0047	51	c.207 others(66): Show c.207+489_207+490insTTCTTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTT	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
RFLNA_chr12_124290093_124321024	124296124	C C	CTTTTCTT others(44): Show CTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0274 a0001c0002t0004g0274	1	213	0.0047	51	c.207 others(66): Show c.207+489_207+490insTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTT	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
RFLNA_chr12_124290093_124321024	124296156	C C	CTTTCTCT others(44): Show CTTTCTCTCTCTCTCTCTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCT TT	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0148 a0001c0001t0006g0148	1	145	0.0069	51	c.207 others(66): Show c.207+522_207+523insTCTCTCTCTCTCTCTCTTTCTCTTTCTTTC TTTCTTTCTTTCTTTCTTTTT	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
RFLNA_chr12_124290093_124321024	124296161	C C	CTTTCTCT others(44): Show CTTTCTCTCTCTCTCTCTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCT TT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00642.hp1 HG01975.hp2 others(8): Show HG00544.hp2 HG00642.hp1 HG01975.hp2 HG02027.hp1 HG02273.hp1 HG02293.hp1 HG02698.hp2 NA18943.hp2 NA18954.hp1 NA18954.hp2 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0001t0037 a0001c0002t0003 others(2): Show a0001c0001t0006 a0001c0001t0037 a0001c0002t0003 a0001c0002t0010 a0001c0002t0016	a0001c0001t0006g0172 a0001c0001t0006g0178 a0001c0001t0037g0174 others(7): Show a0001c0001t0006g0172 a0001c0001t0006g0178 a0001c0001t0037g0174 a0001c0002t0003g0007 a0001c0002t0003g0175 a0001c0002t0003g0176 a0001c0002t0003g0179 a0001c0002t0010g0177 a0001c0002t0010g0180 a0001c0002t0016g0173	11	174	0.0632	51	c.207 others(66): Show c.207+527_207+528insTCTCTCTCTCTCTCTCTTTCTCTTTCTTTC TTTCTTTCTTTCTTTCTTTTT	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
RFLNA_chr12_124290093_124321024	124296162	T T	TTTCTTTC others(44): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01074.hp2 HG01517.hp1 others(9): Show HG00408.hp2 HG01074.hp2 HG01517.hp1 HG01978.hp2 HG02004.hp2 HG02027.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02293.hp2 HG03710.hp2 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0015 a0001c0002t0004 others(1): Show a0001c0001t0001 a0001c0001t0015 a0001c0002t0004 a0001c0002t0020	a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0346 others(9): Show a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0346 a0001c0001t0001g0361 a0001c0001t0001g0362 a0001c0001t0001g0367 a0001c0001t0001g0369 a0001c0001t0015g0337 a0001c0002t0004g0253 a0001c0002t0004g0264 a0001c0002t0004g0349 a0001c0002t0020g0255	12	240	0.0500	51	c.207 others(66): Show c.207+527_207+528insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCT	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
RFLNA_chr12_124290093_124321024	124296167	T T	TTTCTTTC others(44): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TC	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0258 a0001c0001t0005g0258	1	354	0.0028	51	c.207 others(66): Show c.207+532_207+533insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCT	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
RFTN1_chr3_16310845_16518699	16404013	T T	TTATATAT others(44): Show TTATATATAATATATATTTTATATATATTTTATATATAATATATATTTTA TA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01978.hp1 HG02572.hp1 others(1): Show HG01192.hp2 HG01978.hp1 HG02572.hp1 HG04199.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0007 a0002c0003t0004 a0001c0001t0001 a0001c0002t0007 a0002c0003t0004	a0001c0001t0001g0075 a0001c0002t0007g0049 a0001c0002t0007g0240 others(1): Show a0001c0001t0001g0075 a0001c0002t0007g0049 a0001c0002t0007g0240 a0002c0003t0004g0135	4	199	0.0201	51	c.441 others(68): Show c.441+5361_441+5362insTATAAAATATATATTATATATAAAATAT ATATAAAATATATATTATATATA	RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding	4/9			chr3	TogoVar
RGMA_chr15_93030271_93094211	93038569	G G	GTTTTTTT others(44): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0224 a0001c0002t0224	a0001c0002t0224g0116 a0001c0002t0224g0116	1	280	0.0036	51	c.64 others(62): Show c.6428_*6429insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAA	RGMA	ENSG00000182175.15	transcript	ENST00000329082.12	protein_coding	4/4	6428		chr15	TogoVar
RGN_chrX_47073443_47098313	47090909	G G	GAAGAAAG others(44): Show GAAGAAAGAAAGAAGAAAGAAAGAAAGAAGGAAAGAAAGAAGGAAAGAAA GA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	294	0.0034	51	c.563 others(66): Show c.563-764_563-763insAGAAAGAAGAAAGAAAGAAAGAAGGAAAGA AAGAAGGAAAGAAAGAAAGAA	RGN	ENSG00000130988.13	transcript	ENST00000397180.6	protein_coding	5/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
RGN_chrX_47073443_47098313	47090961	A A	AAAGAAAG others(44): Show AAAGAAAGAAGGAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0287 a0001c0001t0001g0287	1	119	0.0084	51	c.563 others(66): Show c.563-708_563-707insGGAAGGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAGAAAGAA	RGN	ENSG00000130988.13	transcript	ENST00000397180.6	protein_coding	5/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
RGPD6_chr2_110508802_110582222	110572565	C C	CAAAACAT others(44): Show CAAAACATAATAGAAAAATAATTCCATTACCTTCTTTGCTTCCAACTATG TT	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	2	0.5000	51	c.73- others(66): Show c.73-2892_73-2842dupAACATAGTTGGAAGCAAAGAAGGTAATGGA ATTATTTTTCTATTATGTTTT	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	1/22			chr2	TogoVar
RGS12_chr4_3288021_3444913	3359033	C C	CTCCCCTC others(44): Show CTCCCCTCCCCCCTCCTCCCCTCCCCCTCTTCCTCCTCCTCCCCTCCTCC CT	intron_variant intron_variant	MODIFIER	HG02559.hp1 NA18522.hp2 HG02559.hp1 NA18522.hp2	a0005 a0005	a0005c0012 a0005c0053 a0005c0012 a0005c0053	a0005c0012t0001 a0005c0053t0001 a0005c0012t0001 a0005c0053t0001	a0005c0012t0001g0138 a0005c0053t0001g0139 a0005c0012t0001g0138 a0005c0053t0001g0139	2	300	0.0067	51	c.199 others(72): Show c.1998+15980_1998+15981insTCCCCTCCCCCCTCCTCCCCTCCC CCTCTTCCTCCTCCTCCCCTCCTCCCT	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	3/17			chr4	TogoVar
RGS12_chr4_3288021_3444913	3359351	C C	CCTTCTTT others(44): Show CCTTCTTTCCTCCTCCCCCTTCTTTCCTCCTCCCCCTTCTTTCCTCCTCC CG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01243.hp2 HG02145.hp2 others(9): Show HG01167.hp1 HG01243.hp2 HG02145.hp2 HG02559.hp1 HG02630.hp2 HG02886.hp1 HG02896.hp1 HG03098.hp2 HG03471.hp1 HG03579.hp1 NA18522.hp2 NA19030.hp2	a0005 a0005	a0005c0012 a0005c0051 a0005c0052 others(2): Show a0005c0012 a0005c0051 a0005c0052 a0005c0053 a0005c0054	a0005c0012t0001 a0005c0051t0001 a0005c0052t0001 others(2): Show a0005c0012t0001 a0005c0051t0001 a0005c0052t0001 a0005c0053t0001 a0005c0054t0001	a0005c0012t0001g0138 a0005c0012t0001g0150 a0005c0012t0001g0151 others(9): Show a0005c0012t0001g0138 a0005c0012t0001g0150 a0005c0012t0001g0151 a0005c0012t0001g0153 a0005c0012t0001g0155 a0005c0012t0001g0156 a0005c0012t0001g0157 a0005c0012t0001g0159 a0005c0051t0001g0152 a0005c0052t0001g0158 a0005c0053t0001g0139 a0005c0054t0001g0154	12	296	0.0405	51	c.199 others(72): Show c.1998+16298_1998+16299insCTTCTTTCCTCCTCCCCCTTCTTT CCTCCTCCCCCTTCTTTCCTCCTCCCG	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	3/17			chr4	TogoVar

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