Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
RASA3_chr13_113972783_114137623	114033147	A A	ACCCCACG others(22): Show ACCCCACGGCACCCCCACACTGACACCACG	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0066 a0001c0001t0004g0066	1	67	0.0149	29	c.373 others(46): Show c.373-3289_373-3261dupCGTGGTGTCAGTGTGGGGGTGCCGTGGG G	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	4/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114044122	G G	GCCCCCCC others(22): Show GCCCCCCCCCCGCCTCACTCGCTGAGCCCC	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01981.hp1 HG01943.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0060 a0001c0001t0007g0034 a0001c0001t0001g0060 a0001c0001t0007g0034	2	67	0.0299	29	c.278 others(46): Show c.278-3029_278-3028insGGGGCTCAGCGAGTGAGGCGGGGGGGGG G	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	3/23			chr13	TogoVar
RASAL3_chr19_15446624_15469544	15465969	T T	TTATTTTT others(22): Show TTATTTTTTGTAGATGAGGTCTGTCATCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	384	0.0026	29	c.-14 others(40): Show c.-1485_-1484insTGGATGACAGACCTCATCTACAAAAAATA	RASAL3	ENSG00000105122.13	transcript	ENST00000343625.12	protein_coding		1426		chr19	TogoVar
RASGEF1B_chr4_81421393_81476907	81466770	A A	AGAAAGAA others(22): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA19002.hp1 HG03130.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0110 a0001c0001t0011g0015 a0001c0001t0001g0110 a0001c0001t0011g0015	2	316	0.0063	29	c.-7+ others(44): Show c.-7+4999_-7+5000insCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	RASGEF1B	ENSG00000138670.19	transcript	ENST00000264400.7	protein_coding	1/13			chr4	TogoVar
RASGEF1C_chr5_180095795_180214211	180133672	A A	ATGGTTTG others(22): Show ATGGTTTGCTTATGTCTATGGTTTGTTATG	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0034 a0001c0002t0034	a0001c0002t0034g0027 a0001c0002t0034g0027	1	370	0.0027	29	c.438 others(46): Show c.438+2705_438+2706insCATAACAAACCATAGACATAAGCAAACC A	RASGEF1C	ENSG00000146090.16	transcript	ENST00000361132.9	protein_coding	4/13			chr5	TogoVar
RASGRP3_chr2_33471649_33569731	33529487	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp2 NA18949.hp1 NA19055.hp1 HG03579.hp2 NA18949.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0008 a0001c0004t0019 a0001c0001t0001 a0001c0001t0008 a0001c0004t0019	a0001c0001t0001g0268 a0001c0001t0008g0034 a0001c0004t0019g0042 a0001c0001t0001g0268 a0001c0001t0008g0034 a0001c0004t0019g0042	3	370	0.0081	29	c.108 others(48): Show c.1083+2088_1083+2089insAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	RASGRP3	ENSG00000152689.18	transcript	ENST00000403687.8	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
RASGRP3_chr2_33471649_33569731	33547342	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0156 a0001c0002t0006g0156	1	370	0.0027	29	c.139 others(48): Show c.1395-2261_1395-2233dupTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	RASGRP3	ENSG00000152689.18	transcript	ENST00000403687.8	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
RASL10B_chr17_35726639_35748521	35737566	G G	GCTGGAAA others(22): Show GCTGGAAATGGCACTGCTGGATCACAATGC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01934.hp1 HG01981.hp2 HG00735.hp1 HG01934.hp1 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0082 a0001c0001t0001g0026 a0001c0001t0001g0082	3	446	0.0067	29	c.216 others(46): Show c.216+2179_216+2207dupCTGCTGGATCACAATGCCTGGAAATGGC A	RASL10B	ENSG00000270885.2	transcript	ENST00000603017.2	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
RASSF6_chr4_73566550_73625436	73566929	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	338	0.0030	29	c.93 others(40): Show c.9305_*9306insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	RASSF6	ENSG00000169435.14	transcript	ENST00000307439.10	protein_coding		4620		chr4	TogoVar
RASSF8_chr12_25953682_26077869	26035469	T T	TATAATTA others(22): Show TATAATTATATAATTATATGAAATTATATA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0059	a0001c0001t0059g0295 a0001c0001t0059g0295	1	396	0.0025	29	c.-10 others(50): Show c.-108-19765_-108-19764insAATTATATAATTATATGAAATTAT ATAAT	RASSF8	ENSG00000123094.16	transcript	ENST00000689635.1	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
RAVER2_chr1_64740075_64838232	64824932	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0193 a0001c0001t0008g0193	1	364	0.0028	29	c.193 others(48): Show c.1930-5880_1930-5879insAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	RAVER2	ENSG00000162437.15	transcript	ENST00000294428.8	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
RB1_chr13_48298751_48486890	48300336	A A	ATATATAT others(22): Show ATATATATATATTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	306	0.0033	29	c.-35 others(40): Show c.-3577_-3576insTATATATATATTTTTTTTTTTTTTTTTTT	RB1	ENSG00000139687.16	transcript	ENST00000267163.6	protein_coding		3414		chr13	TogoVar
RB1_chr13_48298751_48486890	48300336	A A	ATATATAT others(22): Show ATATATATATTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG01261.hp1 NA19005.hp1 others(1): Show HG00741.hp2 HG01261.hp1 NA19005.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0053 a0001c0001t0001g0059 others(1): Show a0001c0001t0001g0013 a0001c0001t0001g0053 a0001c0001t0001g0059 a0001c0001t0001g0067	4	306	0.0131	29	c.-35 others(40): Show c.-3577_-3576insTATATATATTTTTTTTTTTTTTTTTTTTT	RB1	ENSG00000139687.16	transcript	ENST00000267163.6	protein_coding		3414		chr13	TogoVar
RB1_chr13_48298751_48486890	48300336	A A	ATATATAT others(22): Show ATATATATTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18956.hp1 NA18987.hp2 NA19010.hp1 NA18956.hp1 NA18987.hp2 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0078 a0001c0001t0001g0113 a0001c0001t0001g0037 a0001c0001t0001g0078 a0001c0001t0001g0113	3	306	0.0098	29	c.-35 others(40): Show c.-3577_-3576insTATATATTTTTTTTTTTTTTTTTTTTTTT	RB1	ENSG00000139687.16	transcript	ENST00000267163.6	protein_coding		3414		chr13	TogoVar
RB1_chr13_48298751_48486890	48300336	A A	ATATATTT others(22): Show ATATATTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0291 a0001c0001t0006g0291	1	306	0.0033	29	c.-35 others(40): Show c.-3577_-3576insTATATTTTTTTTTTTTTTTTTTTTTTTTT	RB1	ENSG00000139687.16	transcript	ENST00000267163.6	protein_coding		3414		chr13	TogoVar
RBBP4_chr1_32646208_32691211	32687855	A A	ATTATTAT others(22): Show ATTATTATTATTATTATTATTATTATTATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01261.hp2 others(4): Show HG01070.hp1 HG01071.hp2 HG01261.hp2 HG02970.hp2 HG03942.hp1 NA18979.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0038	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0003g0106 others(3): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0003g0106 a0001c0001t0006g0150 a0001c0001t0006g0195 a0001c0001t0038g0108	7	312	0.0224	29	c.81 others(40): Show c.8150_*8151insTTATTATTATTATTATTATTATTATTATT	RBBP4	ENSG00000162521.19	transcript	ENST00000373493.10	protein_coding		1645		chr1	TogoVar
RBBP4_chr1_32646208_32691211	32688391	C C	CCCACCTT others(22): Show CCCACCTTTCCCCCAGGCAGAGACACATGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0064 a0001c0001t0042g0064	1	312	0.0032	29	c.86 others(40): Show c.8686_*8687insCCACCTTTCCCCCAGGCAGAGACACATGT	RBBP4	ENSG00000162521.19	transcript	ENST00000373493.10	protein_coding		2181		chr1	TogoVar
RBBP8_chr18_22928328_23031486	23022603	A A	AAAATAAA others(22): Show AAAATAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0303 a0001c0001t0004g0303	1	330	0.0030	29	c.259 others(46): Show c.2596+337_2596+365dupTAAAATAAAATAAAATAAAATAAAATAA A	RBBP8	ENSG00000101773.19	transcript	ENST00000327155.10	protein_coding	18/18		INFO_REALIGN_3_PRIME	chr18	TogoVar
RBCK1_chr20_403299_437139	407969	C C	CGCCCCGC others(22): Show CGCCCCGCCGGCCCCGCCCACCCCGCCTCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp2 HG03942.hp1 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0043 a0001c0001t0004g0010 a0001c0001t0002g0043 a0001c0001t0004g0010	2	452	0.0044	29	c.-78 others(38): Show c.-789_-788insGCCCCGCCGGCCCCGCCCACCCCGCCTCG	RBCK1	ENSG00000125826.22	transcript	ENST00000356286.10	protein_coding		329		chr20	TogoVar
RBCK1_chr20_403299_437139	420716	A A	ACCCCCCC others(22): Show ACCCCCCCACCCCCGTCCCCCATCCCCCAC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0242 a0001c0001t0003g0242	1	452	0.0022	29	c.757 others(44): Show c.757-150_757-149insCCACCCCCGTCCCCCATCCCCCACCCCCC	RBCK1	ENSG00000125826.22	transcript	ENST00000356286.10	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
RBFOX1_chr16_6014024_7718340	6512283	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0054 a0001c0001t0012g0054	1	68	0.0147	29	c.-63 others(50): Show c.-63-142304_-63-142303insAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	6927414	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG03209.hp1 NA20300.hp2 HG01175.hp1 HG03209.hp1 NA20300.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0003 a0001c0001t0025 a0003c0005t0003 a0001c0001t0003 a0001c0001t0025 a0003c0005t0003	a0001c0001t0003g0050 a0001c0001t0025g0048 a0003c0005t0003g0043 a0001c0001t0003g0050 a0001c0001t0025g0048 a0003c0005t0003g0043	3	68	0.0441	29	c.-15 others(50): Show c.-15-124618_-15-124617insAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	6981042	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03453.hp2 HG02965.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0018 a0001c0001t0001 a0001c0001t0018	a0001c0001t0001g0028 a0001c0001t0018g0052 a0001c0001t0001g0028 a0001c0001t0018g0052	2	68	0.0294	29	c.-15 others(48): Show c.-15-70998_-15-70997insAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX2_chr22_35733736_36033824	35885843	A A	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0021 a0001c0001t0012g0021	1	120	0.0083	29	c.237 others(48): Show c.237+52975_237+53003dupAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	RBFOX2	ENSG00000100320.24	transcript	ENST00000695854.1	protein_coding	2/13			chr22	TogoVar
RBFOX3_chr17_79084345_79616051	79380776	G G	GCCACCAC others(22): Show GCCACCACACTTTCTAAACACCTCCAGCCT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG06807.hp1 NA18906.hp2 HG03579.hp1 HG06807.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0023 a0001c0001t0026 a0001c0001t0004 a0001c0001t0023 a0001c0001t0026	a0001c0001t0004g0118 a0001c0001t0023g0127 a0001c0001t0026g0106 a0001c0001t0004g0118 a0001c0001t0023g0127 a0001c0001t0026g0106	3	154	0.0195	29	c.-17 others(50): Show c.-174-72981_-174-72953dupAGGCTGGAGGTGTTTAGAAAGTGT GGTGG	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	2/14			chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79611130	T T	TCTCTCTC others(22): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG01070.hp2 HG01071.hp1 others(3): Show HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01175.hp1 HG02818.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 a0001c0001t0001 a0001c0001t0006 a0001c0002t0001	a0001c0001t0001g0025 a0001c0001t0001g0051 a0001c0001t0001g0084 others(3): Show a0001c0001t0001g0025 a0001c0001t0001g0051 a0001c0001t0001g0084 a0001c0001t0006g0099 a0001c0002t0001g0012 a0001c0002t0001g0064	6	154	0.0390	29	c.-62 others(38): Show c.-625_-624insGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding		80		chr17	TogoVar
RBL1_chr20_36991349_37100997	37002336	G G	GTTTTTTT others(22): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00423.hp2 NA18960.hp2 others(1): Show HG00323.hp1 HG00423.hp2 NA18960.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0280 a0001c0001t0002g0302 a0001c0001t0002g0324 others(1): Show a0001c0001t0002g0280 a0001c0001t0002g0302 a0001c0001t0002g0324 a0001c0001t0002g0350	4	354	0.0113	29	c.303 others(48): Show c.3036+1365_3036+1366insAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	RBL1	ENSG00000080839.12	transcript	ENST00000373664.8	protein_coding	21/21			chr20	TogoVar
RBL2_chr16_53429471_53496648	53457258	C C	CCTTTTTT others(22): Show CCTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG04228.hp2 NA18522.hp2 HG01123.hp2 HG04228.hp2 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0004 a0001c0003 a0002c0004	a0001c0003t0003 a0002c0004t0003 a0001c0003t0003 a0002c0004t0003	a0001c0003t0003g0179 a0002c0004t0003g0146 a0002c0004t0003g0184 a0001c0003t0003g0179 a0002c0004t0003g0146 a0002c0004t0003g0184	3	276	0.0109	29	c.118 others(48): Show c.1180-2193_1180-2192insCTTTTTTTTTTTTTTTTTTTTTTTTT TTT	RBL2	ENSG00000103479.17	transcript	ENST00000262133.11	protein_coding	8/21			chr16	TogoVar
RBM20_chr10_110639336_110844468	110737177	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02145.hp1 NA18960.hp1 HG01175.hp2 HG02145.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0100 a0001c0001t0001g0131 a0001c0001t0002g0185 a0001c0001t0001g0100 a0001c0001t0001g0131 a0001c0001t0002g0185	3	268	0.0112	29	c.192 others(48): Show c.192-43604_192-43603insAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	RBM20	ENSG00000203867.8	transcript	ENST00000369519.4	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
RBM20_chr10_110639336_110844468	110809218	T T	TAAAAAAA others(22): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0017 a0017	a0017c0015 a0017c0015	a0017c0015t0001 a0017c0015t0001	a0017c0015t0001g0160 a0017c0015t0001g0160	1	268	0.0037	29	c.180 others(48): Show c.1801-1151_1801-1150insAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	RBM20	ENSG00000203867.8	transcript	ENST00000369519.4	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
RBM23_chr14_22888204_22924149	22910151	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01952.hp1 HG04199.hp1 others(2): Show HG01256.hp1 HG01952.hp1 HG04199.hp1 HG04199.hp2 NA19001.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0007 a0002c0002 a0003c0003 a0001c0007 a0002c0002 a0003c0003	a0001c0007t0034 a0002c0002t0001 a0002c0002t0048 others(1): Show a0001c0007t0034 a0002c0002t0001 a0002c0002t0048 a0003c0003t0001	a0001c0007t0034g0112 a0002c0002t0001g0114 a0002c0002t0001g0202 others(2): Show a0001c0007t0034g0112 a0002c0002t0001g0114 a0002c0002t0001g0202 a0002c0002t0048g0113 a0003c0003t0001g0129	5	362	0.0138	29	c.67- others(42): Show c.67-557_67-556insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	RBM23	ENSG00000100461.18	transcript	ENST00000359890.8	protein_coding	2/13			chr14	TogoVar
RBM26_chr13_79313868_79411255	79367406	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0001 a0003c0010t0001	a0003c0010t0001g0229 a0003c0010t0001g0229	1	328	0.0031	29	c.896 others(44): Show c.896-535_896-534insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	RBM26	ENSG00000139746.16	transcript	ENST00000438737.3	protein_coding	6/21			chr13	TogoVar
RBM42_chr19_35624036_35642685	35638908	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 HG00639.hp1 NA19088.hp2 HG00621.hp2 HG00639.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0001 a0001c0001t0001g0015	3	428	0.0070	29	c.13 others(40): Show c.1354_*1355insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	RBM42	ENSG00000126254.12	transcript	ENST00000262633.9	protein_coding		1224		chr19	TogoVar
RBM47_chr4_40418280_40634864	40437090	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0129 a0002c0002t0129	a0002c0002t0129g0226 a0002c0002t0129g0226	1	278	0.0036	29	c.112 others(46): Show c.1124-444_1124-443insATATATATATATATTTTTTTTTTTTTTT T	RBM47	ENSG00000163694.15	transcript	ENST00000295971.12	protein_coding	4/6			chr4	TogoVar
RBM47_chr4_40418280_40634864	40437090	A A	AAAAAAAA others(22): Show AAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0046 a0002c0010t0046	a0002c0010t0046g0143 a0002c0010t0046g0143	1	278	0.0036	29	c.112 others(46): Show c.1124-444_1124-443insATATATATATATATATATATTTTTTTTT T	RBM47	ENSG00000163694.15	transcript	ENST00000295971.12	protein_coding	4/6			chr4	TogoVar
RBM47_chr4_40418280_40634864	40437090	A A	AAAAAAAT others(22): Show AAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0046 a0002c0010t0046	a0002c0010t0046g0136 a0002c0010t0046g0136	1	278	0.0036	29	c.112 others(46): Show c.1124-444_1124-443insATATATATATATATATATATATATTTTT T	RBM47	ENSG00000163694.15	transcript	ENST00000295971.12	protein_coding	4/6			chr4	TogoVar
RBM47_chr4_40418280_40634864	40437098	T T	TATATATA others(22): Show TATATATATATATATATATATAAAAAATAC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0073 a0001c0001t0025g0073	1	278	0.0036	29	c.112 others(46): Show c.1124-452_1124-451insGTATTTTTTATATATATATATATATATA T	RBM47	ENSG00000163694.15	transcript	ENST00000295971.12	protein_coding	4/6			chr4	TogoVar
RBMS1_chr2_160267151_160498807	160426290	A A	AAAGAAAA others(22): Show AAAGAAAAAAAGAAGAAGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0019 a0001c0001t0003g0019	1	328	0.0031	29	c.76- others(46): Show c.76-58900_76-58899insCCTTCCTTCCTTCTTCTTCTTTTTTTCT T	RBMS1	ENSG00000153250.21	transcript	ENST00000348849.8	protein_coding	1/13			chr2	TogoVar
RBMS2_chr12_56516820_56601193	56571985	G G	GGTAAGTC others(22): Show GGTAAGTCAAAAGTTCATTTTAGGCCAGGT	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0083 a0001c0001t0029g0083	1	280	0.0036	29	c.542 others(44): Show c.542+132_542+160dupTAAGTCAAAAGTTCATTTTAGGCCAGGTG	RBMS2	ENSG00000076067.14	transcript	ENST00000262031.10	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
RBMS3_chr3_29276071_30015386	29930109	C C	CTTTCTTT others(22): Show CTTTCTTTCTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00408.hp1 others(9): Show HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG01071.hp1 HG01361.hp2 HG02055.hp2 HG03017.hp1 HG03834.hp1 NA18957.hp2 NA18982.hp1 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0001t0010 a0001c0001t0013 others(9): Show a0001c0001t0006 a0001c0001t0010 a0001c0001t0013 a0001c0001t0023 a0001c0001t0030 a0001c0001t0061 a0001c0001t0068 a0001c0002t0005 a0001c0002t0006 a0001c0002t0041 a0001c0002t0046 a0001c0002t0053	a0001c0001t0006g0053 a0001c0001t0010g0097 a0001c0001t0013g0006 others(9): Show a0001c0001t0006g0053 a0001c0001t0010g0097 a0001c0001t0013g0006 a0001c0001t0023g0054 a0001c0001t0030g0045 a0001c0001t0061g0002 a0001c0001t0068g0109 a0001c0002t0005g0007 a0001c0002t0006g0065 a0001c0002t0041g0104 a0001c0002t0046g0107 a0001c0002t0053g0011	12	116	0.1035	29	c.940 others(46): Show c.940-5974_940-5973insCTTTCTTTTTTTTTTTTTTTTTTTTTTT T	RBMS3	ENSG00000144642.22	transcript	ENST00000383767.7	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
RBPJL_chr20_45301840_45322824	45305805	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18940.hp2 NA18979.hp2 NA19059.hp1 NA18940.hp2 NA18979.hp2 NA19059.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0050 a0001c0002t0001g0001 a0001c0002t0001g0015 a0001c0001t0001g0050 a0001c0002t0001g0001 a0001c0002t0001g0015	3	446	0.0067	29	c.-11 others(40): Show c.-1118_-1117insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	RBPJL	ENSG00000124232.11	transcript	ENST00000343694.8	protein_coding		1034		chr20	TogoVar
RBPMS_chr8_30379541_30577256	30549793	T T	TCTCTCTC others(22): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0297 a0001c0001t0008g0297	1	304	0.0033	29	c.528 others(46): Show c.528+5172_528+5173insTCTCTCTCTCTCTCTCTCTCTCTCTCCT C	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RC3H1_chr1_173926084_174027357	173942428	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0077 a0001c0001t0077	a0001c0001t0077g0291 a0001c0001t0077g0291	1	310	0.0032	29	c.313 others(48): Show c.3135+1013_3135+1014insTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	RC3H1	ENSG00000135870.12	transcript	ENST00000367696.7	protein_coding	18/19			chr1	TogoVar
RCBTB2_chr13_48483963_48538080	48493325	T T	TCACCCTC others(22): Show TCACCCTCTCTCCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	320	0.0031	29	c.151 others(48): Show c.1515+2865_1515+2866insTGTGTGTGTGTGTGTGTGGAGAGAGG GTG	RCBTB2	ENSG00000136161.13	transcript	ENST00000344532.8	protein_coding	14/14			chr13	TogoVar
RCBTB2_chr13_48483963_48538080	48493327	T T	TCCACACA others(22): Show TCCACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0057 a0001c0003t0001g0057	1	320	0.0031	29	c.151 others(48): Show c.1515+2863_1515+2864insTGTGTGTGTGTGTGTGTGTGTGTGTG TGG	RCBTB2	ENSG00000136161.13	transcript	ENST00000344532.8	protein_coding	14/14			chr13	TogoVar
RCBTB2_chr13_48483963_48538080	48493329	T T	TCCACACA others(22): Show TCCACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03486.hp1 HG03098.hp1 HG03486.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0015 a0001c0003t0003g0016 a0001c0003t0003g0015 a0001c0003t0003g0016	2	320	0.0063	29	c.151 others(48): Show c.1515+2861_1515+2862insTGTGTGTGTGTGTGTGTGTGTGTGTG TGG	RCBTB2	ENSG00000136161.13	transcript	ENST00000344532.8	protein_coding	14/14			chr13	TogoVar
RCBTB2_chr13_48483963_48538080	48496843	G G	GGGGAGAG others(22): Show GGGGAGAGGAGGGGAGGGGAGAGGAGGGGA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02622.hp1 HG02896.hp1 others(2): Show HG02257.hp2 HG02622.hp1 HG02896.hp1 HG02970.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0040 others(2): Show a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042	5	320	0.0156	29	c.138 others(46): Show c.1385-523_1385-522insTCCCCTCCTCTCCCCTCCCCTCCTCTCC C	RCBTB2	ENSG00000136161.13	transcript	ENST00000344532.8	protein_coding	13/14			chr13	TogoVar
RCC2_chr1_17401760_17444677	17431359	A A	ATAAAAAT others(22): Show ATAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00609.hp1 HG02074.hp1 others(3): Show HG00558.hp1 HG00609.hp1 HG02074.hp1 HG04228.hp1 NA19086.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0033 a0001c0001t0003g0245 a0001c0001t0003g0246 others(3): Show a0001c0001t0003g0033 a0001c0001t0003g0245 a0001c0001t0003g0246 a0001c0001t0003g0247 a0001c0001t0003g0248 a0001c0001t0003g0268	6	390	0.0154	29	c.286 others(46): Show c.286-2161_286-2160insATATATATATATATATATATATATTTTT A	RCC2	ENSG00000179051.14	transcript	ENST00000375436.9	protein_coding	2/12			chr1	TogoVar
RCHY1_chr4_75474033_75519403	75487642	C C	CATATATA others(22): Show CATATATATATTCATAATATATATTCATAT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0073 a0001c0001t0003g0073	1	406	0.0025	29	c.657 others(46): Show c.657+2938_657+2939insATATGAATATATATTATGAATATATATA T	RCHY1	ENSG00000163743.14	transcript	ENST00000324439.10	protein_coding	8/8			chr4	TogoVar
RCOR1_chr14_102587649_102735561	102706114	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0116 a0001c0001t0005g0116	1	292	0.0034	29	c.499 others(46): Show c.499-1209_499-1208insAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	RCOR1	ENSG00000089902.10	transcript	ENST00000262241.7	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr14	TogoVar

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