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
RBFOX1_chr16_6014024_7718340	6487684	AAAAAAAA others(21): Show AAAAAAAAAAAAAAAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0049 a0001c0001t0003g0049	1	68	0.0147	-28	c.-63 others(49): Show c.-63-166917_-63-166890delAAAAAAAAAAAAAAAATATATATA TATA	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	6487694	AAAAAAAA others(21): Show AAAAAAAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0048 a0001c0001t0025g0048	1	68	0.0147	-28	c.-63 others(49): Show c.-63-166907_-63-166880delAAAAAATATATATATATATATATA TATA	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	6487698	AAAATATA others(21): Show AAAATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0064 a0001c0001t0040g0064	1	68	0.0147	-28	c.-63 others(49): Show c.-63-166903_-63-166876delAATATATATATATATATATATATA TATA	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	6759473	CTGTGTGT others(21): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0019 a0001c0001t0039g0019	1	68	0.0147	-28	c.-16 others(49): Show c.-16+104845_-16+104872delGTGTGTGTGTGTGTGTGTGTGTGT GTGT	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	6859125	ATATACAT others(21): Show ATATACATATATATACGTATATATATATG	A A	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	68	0.0294	-28	c.-15 others(49): Show c.-15-192927_-15-192900delCATATATATACGTATATATATATG TATA	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	6892775	CCTCTCTC others(21): Show CCTCTCTCTCTCTCTCTCTCTCTCTCTCT	C C	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03579.hp2 HG03540.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0040 a0001c0001t0001 a0001c0001t0040	a0001c0001t0001g0020 a0001c0001t0040g0064 a0001c0001t0001g0020 a0001c0001t0040g0064	2	68	0.0294	-28	c.-15 others(49): Show c.-15-159257_-15-159230delCTCTCTCTCTCTCTCTCTCTCTCT CTCT	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	6895440	GTGTGTGT others(21): Show GTGTGTGTGTATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02735.hp2 HG03540.hp1 HG00609.hp2 HG02735.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0017 a0001c0002t0038 a0001c0001t0002 a0001c0001t0017 a0001c0002t0038	a0001c0001t0002g0007 a0001c0001t0017g0014 a0001c0002t0038g0023 a0001c0001t0002g0007 a0001c0001t0017g0014 a0001c0002t0038g0023	3	68	0.0441	-28	c.-15 others(49): Show c.-15-156615_-15-156588delGTGTGTGTATATATATATATATAT ATAT	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	6895442	GTGTGTGT others(21): Show GTGTGTGTATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0057 a0001c0001t0004g0057	1	68	0.0147	-28	c.-15 others(49): Show c.-15-156613_-15-156586delGTGTGTATATATATATATATATAT ATAT	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	6941300	CTCCTTCC others(21): Show CTCCTTCCTTCCTTCCTTCCTTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	68	0.0147	-28	c.-15 others(49): Show c.-15-110726_-15-110699delCTTCCTTCCTTCCTTCCTTCCTTC CTTC	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	7104931	CTCTGTGC others(21): Show CTCTGTGCTTGTGTGTGTGTGCACGTGCT	C C	intron_variant intron_variant	MODIFIER	HG03579.hp1 NA18522.hp1 HG03579.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0043 a0001c0001t0014 a0001c0001t0043	a0001c0001t0014g0046 a0001c0001t0043g0003 a0001c0001t0014g0046 a0001c0001t0043g0003	2	68	0.0294	-28	c.27+ others(45): Show c.27+52853_27+52880delGCACGTGCTTCTGTGCTTGTGTGTGTGT	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	7472288	GAGTACCA others(21): Show GAGTACCATGTATTTACCAAATTACCAAA	G G	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03209.hp2 HG03471.hp1 others(2): Show HG03139.hp2 HG03209.hp2 HG03471.hp1 NA19043.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0010 a0001c0001t0015 others(2): Show a0001c0001t0003 a0001c0001t0010 a0001c0001t0015 a0001c0001t0019 a0001c0001t0023	a0001c0001t0003g0006 a0001c0001t0010g0037 a0001c0001t0015g0045 others(2): Show a0001c0001t0003g0006 a0001c0001t0010g0037 a0001c0001t0015g0045 a0001c0001t0019g0055 a0001c0001t0023g0047	5	68	0.0735	-28	c.28- others(45): Show c.28-45858_28-45831delAGTACCATGTATTTACCAAATTACCAAA	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	4/15			chr16	TogoVar
RBFOX1_chr16_7327845_7718340	7341768	CTCCCTCC others(21): Show CTCCCTCCCTCCTTCCTTCCTTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0001 a0001c0002t0002g0001	1	234	0.0043	-28	c.87+ others(43): Show c.87+8684_87+8711delCTCCCTCCTTCCTTCCTTCCTTCCTTCC	RBFOX1	ENSG00000078328.23	transcript	ENST00000355637.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_7327845_7718340	7379752	GCCTGCCT others(21): Show GCCTGCCTGCCTGCCTTCCTGCCTTCCGT	G G	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp2 HG01257.hp1 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0006 a0001c0003t0004 a0001c0001t0006 a0001c0003t0004	a0001c0001t0006g0131 a0001c0003t0004g0187 a0001c0001t0006g0131 a0001c0003t0004g0187	2	234	0.0086	-28	c.87+ others(45): Show c.87+46680_87+46707delTCCTGCCTTCCGTCCTGCCTGCCTGCCT	RBFOX1	ENSG00000078328.23	transcript	ENST00000355637.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_7327845_7718340	7472288	GAGTACCA others(21): Show GAGTACCATGTATTTACCAAATTACCAAA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02486.hp1 HG02486.hp2 others(9): Show HG00639.hp1 HG02486.hp1 HG02486.hp2 HG02647.hp1 HG02818.hp1 HG03139.hp1 HG03209.hp1 HG03225.hp2 HG03239.hp1 HG03471.hp1 NA19043.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0009 a0001c0010 a0001c0013 a0002c0034	a0001c0001t0042 a0001c0001t0047 a0001c0002t0002 others(7): Show a0001c0001t0042 a0001c0001t0047 a0001c0002t0002 a0001c0002t0019 a0001c0003t0050 a0001c0005t0003 a0001c0009t0048 a0001c0010t0003 a0001c0013t0021 a0002c0034t0002	a0001c0001t0042g0196 a0001c0001t0047g0059 a0001c0002t0002g0001 others(9): Show a0001c0001t0042g0196 a0001c0001t0047g0059 a0001c0002t0002g0001 a0001c0002t0002g0070 a0001c0002t0002g0220 a0001c0002t0019g0126 a0001c0003t0050g0009 a0001c0005t0003g0056 a0001c0009t0048g0023 a0001c0010t0003g0119 a0001c0013t0021g0121 a0002c0034t0002g0075	12	234	0.0513	-28	c.88- others(45): Show c.88-45858_88-45831delAGTACCATGTATTTACCAAATTACCAAA	RBFOX1	ENSG00000078328.23	transcript	ENST00000355637.9	protein_coding	1/13			chr16	TogoVar
RBFOX2_chr22_35733736_36033824	35875607	GGTGTGTG others(21): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02486.hp2 HG02257.hp1 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0010 a0001c0001t0007 a0001c0001t0010	a0001c0001t0007g0095 a0001c0001t0010g0001 a0001c0001t0007g0095 a0001c0001t0010g0001	2	120	0.0167	-28	c.237 others(47): Show c.237+63212_237+63239delACACACACACACACACACACACACAC AC	RBFOX2	ENSG00000100320.24	transcript	ENST00000695854.1	protein_coding	2/13			chr22	TogoVar
RBFOX3_chr17_79084345_79616051	79293410	CCCTTCCT others(21): Show CCCTTCCTTCCTTCCTTCCTTCCTTCCTT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02280.hp2 HG02615.hp2 others(4): Show HG00639.hp2 HG02280.hp2 HG02615.hp2 HG02922.hp2 HG03130.hp2 HG03486.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0021 a0001c0001t0025 a0001c0001t0028	a0001c0001t0001g0066 a0001c0001t0002g0104 a0001c0001t0004g0094 others(4): Show a0001c0001t0001g0066 a0001c0001t0002g0104 a0001c0001t0004g0094 a0001c0001t0004g0095 a0001c0001t0021g0026 a0001c0001t0025g0143 a0001c0001t0028g0136	7	154	0.0455	-28	c.-74 others(47): Show c.-74+14286_-74+14313delAAGGAAGGAAGGAAGGAAGGAAGGAA GG	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	3/14			chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79332696	AGAGAGAG others(21): Show AGAGAGAGAGAGACAGAAAGACAGAGCCT	A A	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	154	0.0065	-28	c.-17 others(49): Show c.-174-24900_-174-24873delAGGCTCTGTCTTTCTGTCTCTCTC TCTC	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	2/14			chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79484476	GGGGGCCT others(21): Show GGGGGCCTGGGTGCAGGGGCCTGGGTGCA	G G	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0037 a0001c0002t0001g0037	1	154	0.0065	-28	c.-31 others(47): Show c.-319-1906_-319-1879delTGCACCCAGGCCCCTGCACCCAGGCC CC	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79484506	GGGGCCTG others(21): Show GGGGCCTGGGTGCAGGGGGCCTGGGTGCA	G G	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	154	0.0065	-28	c.-31 others(47): Show c.-319-1936_-319-1909delTGCACCCAGGCCCCCTGCACCCAGGC CC	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RBM14_chr11_66611630_66634934	66613447	TGTGTGTG others(21): Show TGTGTGTGTGTGTGTGTGTGTGTATATAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	408	0.0025	-28	c.-32 others(39): Show c.-3273_-3246delGTGTGTGTGTGTGTGTGTGTGTATATAC	RBM14	ENSG00000239306.5	transcript	ENST00000310137.5	protein_coding		3182		chr11	TogoVar
RBM17_chr10_6084034_6122447	6085743	AGAAAGAA others(21): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG00597.hp1 HG00609.hp2 others(48): Show HG00544.hp1 HG00597.hp1 HG00609.hp2 HG00639.hp1 HG00673.hp2 HG01106.hp2 HG01168.hp2 HG01169.hp1 HG01261.hp1 HG01361.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG02027.hp2 HG02056.hp2 HG02074.hp2 HG02129.hp1 HG02145.hp1 HG02165.hp2 HG02486.hp2 HG02622.hp2 HG02818.hp1 HG03704.hp1 HG03831.hp1 HG04228.hp1 NA18939.hp1 NA18944.hp1 NA18946.hp1 NA18947.hp1 NA18948.hp1 NA18950.hp2 NA18952.hp1 NA18954.hp1 NA18960.hp2 NA18962.hp2 NA18963.hp1 NA18977.hp2 NA18986.hp2 NA18990.hp1 NA19000.hp2 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19012.hp1 NA19054.hp2 NA19060.hp2 NA19074.hp2 NA19077.hp1 NA19085.hp1 NA20752.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0011 a0001c0001t0018 others(1): Show a0001c0001t0001 a0001c0001t0011 a0001c0001t0018 a0001c0003t0011	a0001c0001t0001g0002 a0001c0001t0001g0023 a0001c0001t0001g0025 others(38): Show a0001c0001t0001g0002 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0057 a0001c0001t0001g0089 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0159 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0169 a0001c0001t0001g0173 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0011g0047 a0001c0001t0011g0138 a0001c0001t0018g0125 a0001c0003t0011g0160 a0001c0003t0011g0170	51	434	0.1175	-28	c.-34 others(39): Show c.-3468_-3441delGAAAGAAAGAAAGAAAGAAAGAAAGAAG	RBM17	ENSG00000134453.16	transcript	ENST00000379888.9	protein_coding		3290		chr10	TogoVar
RBM17_chr10_6084034_6122447	6085751	AGAAAGAA others(21): Show AGAAAGAAAGAAAGAAAGAAGGAAAGAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG01106.hp1 HG02738.hp1 others(2): Show HG00639.hp2 HG01106.hp1 HG02738.hp1 HG03017.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0030 a0001c0001t0013g0293 a0001c0001t0013g0294 a0001c0001t0013g0030 a0001c0001t0013g0293 a0001c0001t0013g0294	5	434	0.0115	-28	c.-34 others(39): Show c.-3460_-3433delGAAAGAAAGAAAGAAAGAAGGAAAGAAG	RBM17	ENSG00000134453.16	transcript	ENST00000379888.9	protein_coding		3282		chr10	TogoVar
RBM25_chr14_73053534_73128899	73103932	TCTCTCTC others(21): Show TCTCTCTCTCTCTCTCTCACACACACACA	T T	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA19009.hp2 NA19065.hp1 NA18944.hp2 NA19009.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0355 a0001c0001t0008g0006 a0001c0001t0008g0008 a0001c0001t0001g0355 a0001c0001t0008g0006 a0001c0001t0008g0008	3	388	0.0077	-28	c.115 others(45): Show c.1154+456_1154+483delTCTCTCTCTCTCTCTCACACACACACAC	RBM25	ENSG00000119707.14	transcript	ENST00000261973.12	protein_coding	10/18		INFO_REALIGN_3_PRIME	chr14	TogoVar
RBM25_chr14_73053534_73128899	73103934	TCTCTCTC others(21): Show TCTCTCTCTCTCTCTCACACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0373 a0001c0001t0001g0373	1	388	0.0026	-28	c.115 others(45): Show c.1154+458_1154+485delTCTCTCTCTCTCTCACACACACACACAC	RBM25	ENSG00000119707.14	transcript	ENST00000261973.12	protein_coding	10/18		INFO_REALIGN_3_PRIME	chr14	TogoVar
RBM27_chr5_146198605_146294223	146290869	GTTTTTTT others(21): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp2 NA18944.hp2 NA18954.hp2 others(2): Show HG03669.hp2 NA18944.hp2 NA18954.hp2 NA18990.hp2 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0002 a0001c0001t0002 a0001c0003t0002	a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 others(2): Show a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0230 a0001c0003t0002g0234	5	272	0.0184	-28	c.48 others(39): Show c.4840_*4867delTTTTTTTTTTTTTTTTTTTTTTTTTTTT	RBM27	ENSG00000091009.8	transcript	ENST00000265271.7	protein_coding		1647		chr5	TogoVar
RBM28_chr7_128292685_128348908	128346632	CTCTCTCT others(21): Show CTCTCTCTCTCTCTCTCTCTCTATATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0296 a0001c0001t0050g0296	1	382	0.0026	-28	c.-28 others(39): Show c.-2867_-2840delTATATATAGAGAGAGAGAGAGAGAGAGA	RBM28	ENSG00000106344.8	transcript	ENST00000223073.6	protein_coding		2725		chr7	TogoVar
RBM28_chr7_128292685_128348908	128346636	CTCTCTCT others(21): Show CTCTCTCTCTCTCTCTCTATATATATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 NA18522.hp1 HG01069.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0042 a0001c0001t0005 a0001c0001t0042	a0001c0001t0005g0185 a0001c0001t0042g0310 a0001c0001t0005g0185 a0001c0001t0042g0310	2	382	0.0052	-28	c.-28 others(39): Show c.-2871_-2844delTATATATATATAGAGAGAGAGAGAGAGA	RBM28	ENSG00000106344.8	transcript	ENST00000223073.6	protein_coding		2729		chr7	TogoVar
RBM28_chr7_128292685_128348908	128346638	CTCTCTCT others(21): Show CTCTCTCTCTCTCTCTATATATATATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0094 a0001c0001t0010g0094	1	382	0.0026	-28	c.-28 others(39): Show c.-2873_-2846delTATATATATATATAGAGAGAGAGAGAGA	RBM28	ENSG00000106344.8	transcript	ENST00000223073.6	protein_coding		2731		chr7	TogoVar
RBM28_chr7_128292685_128348908	128346640	CTCTCTCT others(21): Show CTCTCTCTCTCTCTATATATATATATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG02886.hp1 HG01099.hp2 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0043 a0001c0001t0005 a0001c0002t0043	a0001c0001t0005g0171 a0001c0002t0043g0116 a0001c0001t0005g0171 a0001c0002t0043g0116	2	382	0.0052	-28	c.-28 others(39): Show c.-2875_-2848delTATATATATATATATAGAGAGAGAGAGA	RBM28	ENSG00000106344.8	transcript	ENST00000223073.6	protein_coding		2733		chr7	TogoVar
RBM28_chr7_128292685_128348908	128346642	CTCTCTCT others(21): Show CTCTCTCTCTCTATATATATATATATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 NA19030.hp2 HG00323.hp1 NA19030.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0020 a0001c0001 a0008c0020	a0001c0001t0071 a0008c0020t0084 a0001c0001t0071 a0008c0020t0084	a0001c0001t0071g0093 a0008c0020t0084g0305 a0001c0001t0071g0093 a0008c0020t0084g0305	2	382	0.0052	-28	c.-28 others(39): Show c.-2877_-2850delTATATATATATATATATAGAGAGAGAGA	RBM28	ENSG00000106344.8	transcript	ENST00000223073.6	protein_coding		2735		chr7	TogoVar
RBM28_chr7_128292685_128348908	128346644	CTCTCTCT others(21): Show CTCTCTCTCTATATATATATATATATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	382	0.0026	-28	c.-28 others(39): Show c.-2879_-2852delTATATATATATATATATATAGAGAGAGA	RBM28	ENSG00000106344.8	transcript	ENST00000223073.6	protein_coding		2737		chr7	TogoVar
RBM28_chr7_128292685_128348908	128346646	CTCTCTCT others(21): Show CTCTCTCTATATATATATATATATATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0080 a0001c0001t0080	a0001c0001t0080g0084 a0001c0001t0080g0084	1	382	0.0026	-28	c.-28 others(39): Show c.-2881_-2854delTATATATATATATATATATATAGAGAGA	RBM28	ENSG00000106344.8	transcript	ENST00000223073.6	protein_coding		2739		chr7	TogoVar
RBM28_chr7_128292685_128348908	128346648	CTCTCTAT others(21): Show CTCTCTATATATATATATATATATATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 homoSapiens_chm13v2.hp1 HG02922.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0057 a0001c0001t0005 a0001c0001t0057	a0001c0001t0005g0176 a0001c0001t0057g0118 a0001c0001t0005g0176 a0001c0001t0057g0118	2	382	0.0052	-28	c.-28 others(39): Show c.-2883_-2856delTATATATATATATATATATATATAGAGA	RBM28	ENSG00000106344.8	transcript	ENST00000223073.6	protein_coding		2741		chr7	TogoVar
RBM33_chr7_155639661_155786480	155673633	TATACATA others(21): Show TATACATACACACGTGTATATATACACAC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02451.hp1 HG03130.hp2 others(1): Show HG01884.hp1 HG02451.hp1 HG03130.hp2 HG03139.hp1	a0001 a0001	a0001c0004 a0001c0008 a0001c0004 a0001c0008	a0001c0004t0041 a0001c0004t0042 a0001c0004t0043 others(1): Show a0001c0004t0041 a0001c0004t0042 a0001c0004t0043 a0001c0008t0091	a0001c0004t0041g0083 a0001c0004t0042g0082 a0001c0004t0043g0081 others(1): Show a0001c0004t0041g0083 a0001c0004t0042g0082 a0001c0004t0043g0081 a0001c0008t0091g0086	4	306	0.0131	-28	c.171 others(43): Show c.171+722_171+749delCATACACACGTGTATATATACACACATA	RBM33	ENSG00000184863.11	transcript	ENST00000401878.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
RBM33_chr7_155639661_155786480	155673650	ATATATAC others(21): Show ATATATACACACATATACATACACACGTG	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0024 a0001c0002t0024	a0001c0002t0024g0160 a0001c0002t0024g0160	1	306	0.0033	-28	c.171 others(43): Show c.171+742_171+769delCACACATATACATACACACGTGTATATA	RBM33	ENSG00000184863.11	transcript	ENST00000401878.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
RBM33_chr7_155639661_155786480	155673725	CACACATA others(21): Show CACACATATATACATACACACGTGTATAT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02630.hp2 HG00642.hp1 HG02630.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0024 a0001c0002t0102 a0001c0002t0024 a0001c0002t0102	a0001c0002t0024g0160 a0001c0002t0102g0154 a0001c0002t0024g0160 a0001c0002t0102g0154	2	306	0.0065	-28	c.171 others(43): Show c.171+813_171+840delACATATATACATACACACGTGTATATAC	RBM33	ENSG00000184863.11	transcript	ENST00000401878.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
RBM34_chr1_235126183_235166250	235155822	CATATATA others(21): Show CATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	388	0.0026	-28	c.366 others(43): Show c.366-738_366-711delATATATATATATATATATATATATATAT	RBM34	ENSG00000188739.15	transcript	ENST00000408888.8	protein_coding	3/10			chr1	TogoVar
RBM47_chr4_40418280_40634864	40423652	TTTTCTTT others(21): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0079 a0001c0019t0079	a0001c0019t0079g0083 a0001c0019t0079g0083	1	278	0.0036	-28	c.22 others(39): Show c.2224_*2251delGAAAGAAAGAAAGAAAGAAAGAAAGAAA	RBM47	ENSG00000163694.15	transcript	ENST00000295971.12	protein_coding	7/7	2224		chr4	TogoVar
RBM47_chr4_40418280_40634864	40592955	ATATATAT others(21): Show ATATATATATATATATATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01081.hp2 HG01361.hp2 HG01074.hp1 HG01081.hp2 HG01361.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0100 a0002c0002t0015 a0001c0001t0001 a0001c0001t0100 a0002c0002t0015	a0001c0001t0001g0120 a0001c0001t0100g0118 a0002c0002t0015g0113 a0001c0001t0001g0120 a0001c0001t0100g0118 a0002c0002t0015g0113	3	278	0.0108	-28	c.-24 others(49): Show c.-240+36413_-240+36440delAAAATATATATATATATATATATA TATA	RBM47	ENSG00000163694.15	transcript	ENST00000295971.12	protein_coding	1/6			chr4	TogoVar
RBM47_chr4_40418280_40634864	40592957	ATATATAT others(21): Show ATATATATATATATATATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG04115.hp1 HG01106.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0022 a0001c0001t0010 a0001c0001t0022	a0001c0001t0010g0119 a0001c0001t0022g0110 a0001c0001t0010g0119 a0001c0001t0022g0110	2	278	0.0072	-28	c.-24 others(49): Show c.-240+36411_-240+36438delAAAAAATATATATATATATATATA TATA	RBM47	ENSG00000163694.15	transcript	ENST00000295971.12	protein_coding	1/6			chr4	TogoVar
RBM47_chr4_40418280_40634864	40592959	ATATATAT others(21): Show ATATATATATATATATATATATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0005 a0001c0014t0005	a0001c0014t0005g0096 a0001c0014t0005g0096	1	278	0.0036	-28	c.-24 others(49): Show c.-240+36409_-240+36436delAAAAAAAATATATATATATATATA TATA	RBM47	ENSG00000163694.15	transcript	ENST00000295971.12	protein_coding	1/6			chr4	TogoVar
RBM47_chr4_40418280_40634864	40592961	ATATATAT others(21): Show ATATATATATATATATATATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0012 a0002c0010t0012	a0002c0010t0012g0129 a0002c0010t0012g0129	1	278	0.0036	-28	c.-24 others(49): Show c.-240+36407_-240+36434delAAAAAAAAAATATATATATATATA TATA	RBM47	ENSG00000163694.15	transcript	ENST00000295971.12	protein_coding	1/6			chr4	TogoVar
RBMS3_chr3_29276071_30015386	29820188	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0083 a0001c0001t0008g0083	1	116	0.0086	-28	c.638 others(47): Show c.638-48643_638-48616delAAAAAAAAAAAAAAAAAAAAAAAAAA AA	RBMS3	ENSG00000144642.22	transcript	ENST00000383767.7	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
RBMS3_chr3_29276071_30015386	29837663	CATATATA others(21): Show CATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0024 a0001c0001t0052g0024	1	116	0.0086	-28	c.638 others(47): Show c.638-31178_638-31151delATATATATATATATATATATATATAT AT	RBMS3	ENSG00000144642.22	transcript	ENST00000383767.7	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
RBPMS_chr8_30379541_30577256	30517189	CGTGTGTG others(21): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG02027.hp2 NA18939.hp1 NA19010.hp1 HG02027.hp2 NA18939.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0193 a0001c0001t0002g0283 a0001c0001t0002g0285 a0001c0001t0001g0193 a0001c0001t0002g0283 a0001c0001t0002g0285	3	304	0.0099	-28	c.397 others(47): Show c.397+12775_397+12802delTGTGTGTGTGTGTGTGTGTGTGTGTG TG	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RBSN_chr3_15065073_15104148	15078771	AAAAAATA others(21): Show AAAAAATACATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02970.hp2 NA18949.hp1 HG01081.hp1 HG02970.hp2 NA18949.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0013 a0002c0002t0004 a0002c0002t0013	a0002c0002t0004g0237 a0002c0002t0013g0227 a0002c0002t0013g0228 a0002c0002t0004g0237 a0002c0002t0013g0227 a0002c0002t0013g0228	3	360	0.0083	-28	c.912 others(43): Show c.912-638_912-611delATATATATATATATATATATGTATTTTT	RBSN	ENSG00000131381.12	transcript	ENST00000253699.7	protein_coding	10/13			chr3	TogoVar
RCC1L_chr7_75037183_75078802	75051188	TATATATA others(21): Show TATATATATTTAATATATATAAACGTATA	T T	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02818.hp1 HG02896.hp2 others(1): Show HG01074.hp1 HG02818.hp1 HG02896.hp2 HG03486.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0008 a0001c0001 a0005c0008	a0001c0001t0001 a0005c0008t0001 a0001c0001t0001 a0005c0008t0001	a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 others(1): Show a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0005c0008t0001g0112	4	270	0.0148	-28	c.131 others(47): Show c.1317+1495_1317+1522delTATACGTTTATATATATTAAATATAT AT	RCC1L	ENSG00000274523.5	transcript	ENST00000610322.5	protein_coding	10/10			chr7	TogoVar
RCC1_chr1_28501043_28543989	28518111	TCCCCCAG others(21): Show TCCCCCAGCCCGGCCAAGGGCTCCCCCAG	T T	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0089 a0001c0001t0004g0089	1	294	0.0034	-28	c.-10 others(45): Show c.-10+1248_-10+1275delCCAGCCCGGCCAAGGGCTCCCCCAGCCC	RCC1	ENSG00000180198.17	transcript	ENST00000683442.1	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
RCC1_chr1_28501043_28543989	28533845	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02300.hp2 NA19240.hp1 HG02280.hp1 HG02300.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0101 a0001c0001t0004g0208 a0001c0001t0004g0217 a0001c0001t0001g0101 a0001c0001t0004g0208 a0001c0001t0004g0217	3	294	0.0102	-28	c.442 others(45): Show c.442-1182_442-1155delTTTTTTTTTTTTTTTTTTTTTTTTTTTT	RCC1	ENSG00000180198.17	transcript	ENST00000683442.1	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
RCCD1_chr15_90949884_90968125	90967591	TTACCATT others(21): Show TTACCATTGCGTTACAATTGCCTACAGTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	432	0.0023	-28	c.58 others(39): Show c.5823_*5850delTACCATTGCGTTACAATTGCCTACAGTA	RCCD1	ENSG00000166965.13	transcript	ENST00000394258.7	protein_coding		4467		chr15	TogoVar

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