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	6859129	A A	ATATGTAT others(33): Show ATATGTATATATATATATGTATATATATACGTATATATATG	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0065 a0001c0001t0035g0065	1	68	0.0147	40	c.-15 others(61): Show c.-15-192928_-15-192927insTATGTATATATATATATGTATATA TATACGTATATATATG	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	3/15			chr16	TogoVar
RBFOX1_chr16_6014024_7718340	6985095	C C	CCCCTCTC others(33): Show CCCCTCTCCTTCCTTCCCCTACCCTACCCTACCCTACCCTA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03098.hp2 HG03195.hp2 others(3): Show HG02622.hp1 HG03098.hp2 HG03195.hp2 HG03927.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 a0001c0001t0022 a0001c0001t0029	a0001c0001t0001g0053 a0001c0001t0002g0012 a0001c0001t0004g0033 others(3): Show a0001c0001t0001g0053 a0001c0001t0002g0012 a0001c0001t0004g0033 a0001c0001t0009g0036 a0001c0001t0022g0009 a0001c0001t0029g0001	6	68	0.0882	40	c.-15 others(59): Show c.-15-66955_-15-66916dupCCTTCCTTCCCCTACCCTACCCTACC CTACCCTACCCTCT	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	7217011	C C	CCCTCCCT others(33): Show CCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTT	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	40	c.27+ others(59): Show c.27+164928_27+164929insTCCTCCCTCCCTCCCTCCCTCCCTTC CTCCCTCCCTCCCT	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_7327845_7718340	7504739	A A	ATATATAT others(33): Show ATATATATTTATATATATATATATTTATATATATATATATT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0011 a0001c0004t0011	a0001c0004t0011g0108 a0001c0004t0011g0108	1	234	0.0043	40	c.88- others(57): Show c.88-13401_88-13400insTTATATATATATATATTTATATATATAT ATATTTATATAT	RBFOX1	ENSG00000078328.23	transcript	ENST00000355637.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX3_chr17_79084345_79616051	79170128	A A	AAGGAGGA others(33): Show AAGGAGGAAGGAGGAAGGAAGGGAGGAGGAAGGAGGAAGGG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0143 a0001c0001t0025g0143	1	154	0.0065	40	c.-33 others(59): Show c.-33-54381_-33-54380insCCCTTCCTCCTTCCTCCTCCCTTCCT TCCTCCTTCCTCCT	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	4/14			chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79170128	A A	AAGGAGGA others(33): Show AAGGAGGAAGGAGGAAGGGAGGAGGAAGGAGGAAGGAAGGG	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0062 a0001c0001t0007g0062	1	154	0.0065	40	c.-33 others(59): Show c.-33-54381_-33-54380insCCCTTCCTTCCTCCTTCCTCCTCCCT TCCTCCTTCCTCCT	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	4/14			chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79611169	T T	TCTCTCTC others(33): Show TCTCTCTCTCTCTCTCGCTCTCGCTCTCGCTCTCGCTCTCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0063 a0001c0002t0001g0063	1	154	0.0065	40	c.-66 others(49): Show c.-664_-663insCGAGAGCGAGAGCGAGAGCGAGAGCGAGAGAGAGAG AGAG	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding		119		chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79611169	T T	TCTCTCTC others(33): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCGCTCTCGCTCTCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	154	0.0065	40	c.-66 others(49): Show c.-664_-663insCGAGAGCGAGAGCGAGAGAGAGAGAGAGAGAGAGAG AGAG	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding		119		chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79611174	C C	CTCTCTCT others(33): Show CTCTCTCTCTCTCTCTCTCCGCCCTCCTTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0102 a0001c0002t0006g0102	1	154	0.0065	40	c.-66 others(49): Show c.-669_-668insAGAGAGAGAGAGAAGGAGGGCGGAGAGAGAGAGAGA GAGA	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding		124		chr17	TogoVar
RBM19_chr12_113817057_113971325	113879446	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATATATATACATAC	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0002 a0001c0010t0002	a0001c0010t0002g0184 a0001c0010t0002g0184	1	356	0.0028	40	c.255 others(61): Show c.2559-20551_2559-20550insGTATGTATATATATATATATATAT ATATATATATATATAT	RBM19	ENSG00000122965.11	transcript	ENST00000261741.10	protein_coding	21/23			chr12	TogoVar
RBM19_chr12_113817057_113971325	113879446	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG04115.hp2 HG03669.hp1 HG04115.hp2	a0001 a0013 a0001 a0013	a0001c0001 a0013c0031 a0001c0001 a0013c0031	a0001c0001t0001 a0013c0031t0002 a0001c0001t0001 a0013c0031t0002	a0001c0001t0001g0093 a0013c0031t0002g0125 a0001c0001t0001g0093 a0013c0031t0002g0125	2	356	0.0056	40	c.255 others(61): Show c.2559-20551_2559-20550insGTATATATATATATATATATATAT ATATATATATATATAT	RBM19	ENSG00000122965.11	transcript	ENST00000261741.10	protein_coding	21/23			chr12	TogoVar
RBM20_chr10_110639336_110844468	110767504	G G	GGGGCGGA others(33): Show GGGGCGGAGGGGCTCCTCACTTCTCAGACGGGGCGGCTGCC	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0267 a0001c0001t0002g0267	1	268	0.0037	40	c.192 others(59): Show c.192-13261_192-13222dupCTGCCGGGCGGAGGGGCTCCTCACTT CTCAGACGGGGCGG	RBM20	ENSG00000203867.8	transcript	ENST00000369519.4	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
RBM24_chr6_17276361_17298871	17295021	C C	CTATATAT others(33): Show CTATATATATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	442	0.0023	40	c.29 others(51): Show c.2902_*2903insTATATATATATATATATATATATATATATATATA TATATA	RBM24	ENSG00000112183.15	transcript	ENST00000379052.10	protein_coding		1151		chr6	TogoVar
RBM42_chr19_35624036_35642685	35638908	C C	CAAAAAAA others(33): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG02523.hp1 HG00544.hp2 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	428	0.0047	40	c.13 others(51): Show c.1354_*1355insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	RBM42	ENSG00000126254.12	transcript	ENST00000262633.9	protein_coding		1224		chr19	TogoVar
RBM47_chr4_40418280_40634864	40437089	A A	AAAAAAAA others(33): Show AAAAAAAAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0257 a0001c0001t0027g0257	1	278	0.0036	40	c.112 others(57): Show c.1124-443_1124-442insATATATATATATATATATATATTTTTTT TTTTTTTTTTTT	RBM47	ENSG00000163694.15	transcript	ENST00000295971.12	protein_coding	4/6			chr4	TogoVar
RBM47_chr4_40418280_40634864	40437089	A A	AAAAAAAA others(33): Show AAAAAAAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0114 a0001c0001t0040g0114	1	278	0.0036	40	c.112 others(57): Show c.1124-443_1124-442insATATATATATATATATATATATATATTT TTTTTTTTTTTT	RBM47	ENSG00000163694.15	transcript	ENST00000295971.12	protein_coding	4/6			chr4	TogoVar
RBM47_chr4_40418280_40634864	40437089	A A	AAAAAAAA others(33): Show AAAAAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0105 a0001c0001t0105	a0001c0001t0105g0204 a0001c0001t0105g0204	1	278	0.0036	40	c.112 others(57): Show c.1124-443_1124-442insATATATATATATATATATATATATATAT TTTTTTTTTTTT	RBM47	ENSG00000163694.15	transcript	ENST00000295971.12	protein_coding	4/6			chr4	TogoVar
RBM47_chr4_40418280_40634864	40498054	T T	TTATATAT others(33): Show TTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0044 a0002c0002t0044	a0002c0002t0044g0006 a0002c0002t0044g0006	1	278	0.0036	40	c.-15 others(61): Show c.-154-31356_-154-31355insTATATATATATATATATATATATA TATATATATATATATA	RBM47	ENSG00000163694.15	transcript	ENST00000295971.12	protein_coding	2/6			chr4	TogoVar
RBM47_chr4_40418280_40634864	40573807	A A	AAAAGAAA others(33): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA19087.hp2 NA18982.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0027 a0001c0003t0114 a0001c0001t0027 a0001c0003t0114	a0001c0001t0027g0228 a0001c0003t0114g0230 a0001c0001t0027g0228 a0001c0003t0114g0230	2	278	0.0072	40	c.-23 others(61): Show c.-239-29302_-239-29301insCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTT	RBM47	ENSG00000163694.15	transcript	ENST00000295971.12	protein_coding	1/6			chr4	TogoVar
RBM48_chr7_92523795_92545481	92540129	G G	GGGTGAGG others(33): Show GGGTGAGGGGCACCAAGGGCTGGCGTCCTGCTGCGTAGGAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0017 a0001c0001t0030g0017	1	396	0.0025	40	c.31 others(51): Show c.3194_*3195insTGAGGGGCACCAAGGGCTGGCGTCCTGCTGCGTA GGATGG	RBM48	ENSG00000127993.16	transcript	ENST00000265732.10	protein_coding	5/5	3195	INFO_REALIGN_3_PRIME	chr7	TogoVar
RBMS1_chr2_160267151_160498807	160471691	G G	GTGTGTAT others(33): Show GTGTGTATGTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0015 a0001c0001t0025g0015	1	328	0.0031	40	c.75+ others(57): Show c.75+21597_75+21598insTATATATATATATATATATATATATATA TATACATACACA	RBMS1	ENSG00000153250.21	transcript	ENST00000348849.8	protein_coding	1/13			chr2	TogoVar
RBMS3_chr3_29276071_30015386	29962551	C C	CATATATA others(33): Show CATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01981.hp1 HG02896.hp2 others(2): Show HG01361.hp1 HG01981.hp1 HG02896.hp2 NA18982.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0001t0035 a0001c0001t0071 others(2): Show a0001c0001t0007 a0001c0001t0035 a0001c0001t0071 a0001c0002t0004 a0001c0002t0050	a0001c0001t0007g0081 a0001c0001t0035g0105 a0001c0001t0071g0080 others(2): Show a0001c0001t0007g0081 a0001c0001t0035g0105 a0001c0001t0071g0080 a0001c0002t0004g0092 a0001c0002t0050g0025	5	116	0.0431	40	c.109 others(61): Show c.1098+18314_1098+18315insTATATATATATATATATATATATA TATATATATATATATA	RBMS3	ENSG00000144642.22	transcript	ENST00000383767.7	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
RBPJL_chr20_45301840_45322824	45305805	C C	CTTTTTTT others(33): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp1 HG02735.hp1 HG02970.hp2 others(5): Show HG01074.hp1 HG02735.hp1 HG02970.hp2 HG03516.hp1 NA18967.hp1 NA19009.hp1 NA19083.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0016 others(3): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0016 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0110	8	446	0.0179	40	c.-11 others(51): Show c.-1118_-1117insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	RBPJL	ENSG00000124232.11	transcript	ENST00000343694.8	protein_coding		1034		chr20	TogoVar
RBPMS_chr8_30379541_30577256	30445649	G G	GATATATA others(33): Show GATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0276 a0001c0001t0003g0276	1	304	0.0033	40	c.67- others(57): Show c.67-29104_67-29103insATATATATATATATATATATATATATAT ATATATATATAT	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RBPMS_chr8_30379541_30577256	30549793	T T	TCTCTCTC others(33): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCC	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0121 a0001c0001t0008g0121	1	304	0.0033	40	c.528 others(57): Show c.528+5172_528+5173insTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCCCTC	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RCAN2_chr6_46215736_46496449	46367022	G G	GATATATA others(33): Show GATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02293.hp2 NA18962.hp2 HG01106.hp1 HG02293.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0057 a0001c0001t0001g0121 a0001c0001t0002g0013 a0001c0001t0001g0057 a0001c0001t0001g0121 a0001c0001t0002g0013	3	158	0.0190	40	c.225 others(59): Show c.225+89729_225+89730insATATATATATATATATATATATATAT ATATATATATATAT	RCAN2	ENSG00000172348.16	transcript	ENST00000371374.6	protein_coding	2/4			chr6	TogoVar
RCAN2_chr6_46215736_46496449	46367053	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATATATATATATC	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0120 a0001c0001t0003g0120	1	158	0.0063	40	c.225 others(59): Show c.225+89698_225+89699insGATATATATATATATATATATATATA TATATATATATATA	RCAN2	ENSG00000172348.16	transcript	ENST00000371374.6	protein_coding	2/4			chr6	TogoVar
RCC2_chr1_17401760_17444677	17431357	A A	AATATATA others(33): Show AATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0137 a0001c0002t0002g0137	1	390	0.0026	40	c.286 others(57): Show c.286-2159_286-2158insATATATATATATATATATATATATATAT ATATATATATAT	RCC2	ENSG00000179051.14	transcript	ENST00000375436.9	protein_coding	2/12			chr1	TogoVar
RCHY1_chr4_75474033_75519403	75487602	C C	CATATATA others(33): Show CATATATATTCATAATATATATATTCATATATATTCATAAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0214 a0001c0001t0007g0214	1	406	0.0025	40	c.657 others(57): Show c.657+2978_657+2979insATTATGAATATATATGAATATATATATT ATGAATATATAT	RCHY1	ENSG00000163743.14	transcript	ENST00000324439.10	protein_coding	8/8			chr4	TogoVar
RCHY1_chr4_75474033_75519403	75487811	A A	AATATATA others(33): Show AATATATATATTCATATATATATTCATAATATATAATTCAT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0099 a0001c0001t0003g0099	1	406	0.0025	40	c.657 others(57): Show c.657+2769_657+2770insATGAATTATATATTATGAATATATATAT GAATATATATAT	RCHY1	ENSG00000163743.14	transcript	ENST00000324439.10	protein_coding	8/8			chr4	TogoVar
RCSD1_chr1_167625232_167713696	167627369	C C	CTTTTTTT others(33): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	350	0.0029	40	c.-30 others(51): Show c.-3055_-3054insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	RCSD1	ENSG00000198771.11	transcript	ENST00000367854.8	protein_coding		2862		chr1	TogoVar
REEP6_chr19_1486181_1502927	1499706	A A	ACGCTCCT others(33): Show ACGCTCCTCACTTCCTAGATGGGATGGCAGCCGGGAAGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG01169.hp2 HG01243.hp2 others(15): Show HG00639.hp2 HG01169.hp2 HG01243.hp2 HG01261.hp2 HG02258.hp1 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02717.hp1 HG02723.hp1 HG02809.hp1 HG02886.hp2 HG03041.hp2 HG03098.hp1 HG03209.hp1 HG03688.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0006 a0001c0001 a0001c0003 a0001c0006	a0001c0001t0003 a0001c0001t0006 a0001c0003t0003 others(1): Show a0001c0001t0003 a0001c0001t0006 a0001c0003t0003 a0001c0006t0006	a0001c0001t0003g0011 a0001c0001t0003g0016 a0001c0001t0003g0022 others(7): Show a0001c0001t0003g0011 a0001c0001t0003g0016 a0001c0001t0003g0022 a0001c0001t0003g0037 a0001c0001t0003g0044 a0001c0001t0006g0064 a0001c0001t0006g0127 a0001c0001t0006g0148 a0001c0003t0003g0045 a0001c0006t0006g0043	18	318	0.0566	40	c.24 others(51): Show c.2495_*2496insCGCTCCTCACTTCCTAGATGGGATGGCAGCCGGG AAGAGG	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		1780		chr19	TogoVar
REPS2_chrX_16941658_17158272	16969143	A A	ACGCTCCT others(33): Show ACGCTCCTCACTTCCTAGATGGGATGGCGGCCGGGAAGAGG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0021 a0001c0001t0008g0021	1	166	0.0060	40	c.273 others(59): Show c.273+22041_273+22080dupGGGAAGAGGCGCTCCTCACTTCCTAG ATGGGATGGCGGCC	REPS2	ENSG00000169891.18	transcript	ENST00000357277.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
REPS2_chrX_16941658_17158272	17050141	C C	CCTTCCTT others(33): Show CCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	166	0.0060	40	c.908 others(57): Show c.908-2238_908-2237insCCTTCCTTCCTTCCTTCCTTTCTTTCTT TCTTTCTTTCTT	REPS2	ENSG00000169891.18	transcript	ENST00000357277.8	protein_coding	6/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
REPS2_chrX_16941658_17158272	17050141	C C	CCTTTCTT others(33): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0019 a0001c0001t0015g0019	1	166	0.0060	40	c.908 others(57): Show c.908-2224_908-2185dupCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTT	REPS2	ENSG00000169891.18	transcript	ENST00000357277.8	protein_coding	6/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
RER1_chr1_2386841_2410436	2401318	C C	CCCTCCTC others(33): Show CCCTCCTCCTTCCTCCCCTCCCTCCTCCTTTCCTCCCTCCT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	354	0.0028	40	c.365 others(55): Show c.365+383_365+384insCCTCCTCCTTCCTCCCCTCCCTCCTCCTTT CCTCCCTCCT	RER1	ENSG00000157916.20	transcript	ENST00000605895.6	protein_coding	5/6			chr1	TogoVar
RERE_chr1_8347404_8822640	8545982	C C	CTTTTTTT others(33): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0007 a0007	a0007c0020 a0007c0020	a0007c0020t0039 a0007c0020t0039	a0007c0020t0039g0197 a0007c0020t0039g0197	1	204	0.0049	40	c.726 others(57): Show c.726-4665_726-4664insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAA	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	6/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8789301	A A	AAAAAAAA others(33): Show AAAAAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0110 a0001c0002t0005g0110	1	204	0.0049	40	c.-14 others(61): Show c.-145+27858_-145+27859insATATATATATATATATATATATAT ATATTTTTTTTTTTTT	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	1/22			chr1	TogoVar
RERG_chr12_15102783_15226417	15161138	A A	AAAAGAAA others(33): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02040.hp1 NA18939.hp2 NA18962.hp2 others(2): Show HG02040.hp1 NA18939.hp2 NA18962.hp2 NA19010.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0017 a0001c0001t0001g0153 a0001c0001t0001g0171 others(2): Show a0001c0001t0001g0017 a0001c0001t0001g0153 a0001c0001t0001g0171 a0001c0002t0001g0221 a0001c0002t0001g0255	5	300	0.0167	40	c.62- others(57): Show c.62-40059_62-40020dupCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTT	RERG	ENSG00000134533.6	transcript	ENST00000256953.6	protein_coding	2/4			chr12	TogoVar
REST_chr4_56902900_56940844	56905329	A A	AATATATA others(33): Show AATATATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 NA18986.hp1 NA19005.hp1 HG00280.hp1 NA18986.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0003 a0001c0013t0006 a0001c0001t0003 a0001c0013t0006	a0001c0001t0003g0019 a0001c0001t0003g0148 a0001c0013t0006g0176 a0001c0001t0003g0019 a0001c0001t0003g0148 a0001c0013t0006g0176	3	408	0.0074	40	c.-28 others(51): Show c.-2894_-2893insATATATATATATATATATATATATATATATATAT ATATAT	REST	ENSG00000084093.19	transcript	ENST00000309042.12	protein_coding		2570		chr4	TogoVar
REST_chr4_56902900_56940844	56905347	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATATATATATATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG00639.hp2 HG00642.hp2 others(17): Show HG00558.hp2 HG00639.hp2 HG00642.hp2 HG00738.hp1 HG01074.hp1 HG01433.hp2 HG01516.hp1 HG01517.hp2 HG02258.hp1 HG02965.hp2 HG02970.hp1 HG03491.hp1 HG04184.hp1 NA18612.hp1 NA18747.hp2 NA18947.hp2 NA19060.hp1 NA19070.hp1 NA19074.hp1 NA19079.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0007 a0008	a0001c0001 a0002c0002 a0002c0007 others(3): Show a0001c0001 a0002c0002 a0002c0007 a0003c0003 a0007c0011 a0008c0012	a0001c0001t0002 a0001c0001t0021 a0002c0002t0001 others(8): Show a0001c0001t0002 a0001c0001t0021 a0002c0002t0001 a0002c0002t0007 a0002c0002t0013 a0002c0002t0014 a0002c0007t0001 a0002c0007t0028 a0003c0003t0002 a0007c0011t0001 a0008c0012t0008	a0001c0001t0002g0105 a0001c0001t0002g0107 a0001c0001t0002g0109 others(17): Show a0001c0001t0002g0105 a0001c0001t0002g0107 a0001c0001t0002g0109 a0001c0001t0021g0104 a0002c0002t0001g0216 a0002c0002t0001g0308 a0002c0002t0007g0011 a0002c0002t0013g0288 a0002c0002t0014g0280 a0002c0007t0001g0294 a0002c0007t0001g0295 a0002c0007t0028g0296 a0003c0003t0002g0001 a0003c0003t0002g0062 a0003c0003t0002g0063 a0003c0003t0002g0117 a0003c0003t0002g0123 a0003c0003t0002g0130 a0007c0011t0001g0284 a0008c0012t0008g0090	20	408	0.0490	40	c.-28 others(51): Show c.-2876_-2875insATATATATATATATATATATATATATATATATAT ATATAA	REST	ENSG00000084093.19	transcript	ENST00000309042.12	protein_coding		2552		chr4	TogoVar
REST_chr4_56902900_56940844	56905348	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATATATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 HG03098.hp2 NA18906.hp2 HG02717.hp2 HG03098.hp2 NA18906.hp2	a0004 a0004	a0004c0004 a0004c0008 a0004c0004 a0004c0008	a0004c0004t0009 a0004c0008t0009 a0004c0004t0009 a0004c0008t0009	a0004c0004t0009g0009 a0004c0008t0009g0039 a0004c0004t0009g0009 a0004c0008t0009g0039	3	408	0.0074	40	c.-28 others(51): Show c.-2875_-2874insTATATATATATATATATATATATATATATATATA TATATG	REST	ENSG00000084093.19	transcript	ENST00000309042.12	protein_coding		2551		chr4	TogoVar
RETNLB_chr3_108750638_108762410	108759503	G G	GTATGTGT others(33): Show GTATGTGTATACATATATATGTATGTATGTATGTGTATACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG01261.hp2 HG01934.hp2 others(18): Show HG00642.hp2 HG01261.hp2 HG01934.hp2 HG01952.hp2 HG01978.hp1 HG01993.hp1 HG02027.hp1 HG02148.hp1 HG02293.hp1 HG02602.hp2 HG02738.hp2 HG03017.hp1 HG03490.hp1 HG03654.hp1 HG03704.hp2 HG03834.hp1 NA18950.hp1 NA18951.hp1 NA18998.hp1 NA19043.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0002c0002t0002 a0001c0001t0005 a0002c0002t0002	a0001c0001t0005g0019 a0002c0002t0002g0004 a0001c0001t0005g0019 a0002c0002t0002g0004	21	452	0.0465	40	c.-23 others(51): Show c.-2319_-2318insTGTATACACATACATACATACATATATATGTATA CACATA	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2094		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759610	C C	CATACGTA others(33): Show CATACGTATGTATGTGTATACATACGTATGTATGTATGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 NA18964.hp2 NA18979.hp1 others(2): Show HG00597.hp2 NA18964.hp2 NA18979.hp1 NA18985.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	5	452	0.0111	40	c.-24 others(51): Show c.-2426_-2425insACACATACATACATACGTATGTATACACATACAT ACGTAT	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2201		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759634	C C	CATACGTA others(33): Show CATACGTATGTATGTGTATACATACGTATGTATGTATGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18999.hp2 NA19085.hp2 NA18999.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	452	0.0044	40	c.-24 others(51): Show c.-2450_-2449insACACATACATACATACGTATGTATACACATACAT ACGTAT	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2225		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759642	T T	TGTATGTG others(33): Show TGTATGTGTATACATACGTATGTATGTATGTGTATACATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19009.hp1 NA19066.hp1 NA19009.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	452	0.0044	40	c.-24 others(51): Show c.-2458_-2457insGTATGTATACACATACATACATACGTATGTATAC ACATAC	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2233		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759643	G G	GTATGTGT others(33): Show GTATGTGTATACATACGTATGTATGTATGTGTATACATACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp1 HG02886.hp1 NA19090.hp2 HG02738.hp1 HG02886.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	452	0.0066	40	c.-24 others(51): Show c.-2459_-2458insTGTATGTATACACATACATACATACGTATGTATA CACATA	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2234		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759658	C C	CATACGTA others(33): Show CATACGTATGTATGTGTATACATACGTATGTATGTATGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	452	0.0022	40	c.-24 others(51): Show c.-2474_-2473insACACATACATACATACGTATGTATACACATACAT ACGTAT	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2249		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759666	T T	TGTATGTG others(33): Show TGTATGTGTATACATACATATGTATGTGTATACATACATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	452	0.0022	40	c.-24 others(51): Show c.-2482_-2481insGTATGTATGTATACACATACATATGTATGTATAC ACATAC	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2257		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759667	G G	GTATGTAT others(33): Show GTATGTATGTGTATACATACGTATGTATGTGTATACATACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	452	0.0022	40	c.-24 others(51): Show c.-2483_-2482insTGTATGTATACACATACATACGTATGTATACACA TACATA	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2258		chr3	TogoVar

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