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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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
PRKN_chr6_161342417_162732766	161895576	A A	ACCCCAGT others(103): Show ACCCCAGTGAGGCTTCTGAGATTCAGGAGCACGCCCACCCCTCCTGCTGT TATGCCCCCCAGTGAGGCTTCTGAGATTCAGGAGCACGCCCACCCCTCCT GCCGTTATGCC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0024	1	32	0.0313	110	c.734 others(129): Show c.734+77725_734+77726insGGCATAACGGCAGGAGGGGTGGGCGT GCTCCTGAATCTCAGAAGCCTCACTGGGGGGCATAACAGCAGGAGGGGTG GGCGTGCTCCTGAATCTCAGAAGCCTCACTGGGG	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	6/11			chr6	TogoVar
PRKN_chr6_161342417_162732766	161895624	G G	GTTATGCC others(103): Show GTTATGCCCCCCAGTGAGGCTTCTGAGATTCAGGAGCACGCCCACCCCTC CTGCCGTTATGCCCCCCAGTGAGGCTTCTGAGATTCAGGAGCACGCCCAC CCCACCTGCCA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0023 a0001c0001t0002g0023	1	32	0.0313	110	c.734 others(129): Show c.734+77677_734+77678insTGGCAGGTGGGGTGGGCGTGCTCCTG AATCTCAGAAGCCTCACTGGGGGGCATAACGGCAGGAGGGGTGGGCGTGC TCCTGAATCTCAGAAGCCTCACTGGGGGGCATAA	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	6/11			chr6	TogoVar
PRKN_chr6_161342417_162732766	161895727	A A	ACCTGCCG others(103): Show ACCTGCCGTTATGCCCCCCAGTGAGGCTTCTGAGATTCAGGAGCACGCCC ACCCCACCTGCCGTTATACACCCCAGTGAGGCTTCTGAGATTCAGGAGCA CGCCCACCCCT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02647.hp1 NA18522.hp2 HG02258.hp1 HG02647.hp1 NA18522.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0004 a0006c0010 a0001c0001 a0001c0004 a0006c0010	a0001c0001t0014 a0001c0004t0001 a0006c0010t0005 a0001c0001t0014 a0001c0004t0001 a0006c0010t0005	a0001c0001t0014g0012 a0001c0004t0001g0006 a0006c0010t0005g0013 a0001c0001t0014g0012 a0001c0004t0001g0006 a0006c0010t0005g0013	3	32	0.0938	110	c.734 others(129): Show c.734+77574_734+77575insAGGGGTGGGCGTGCTCCTGAATCTCA GAAGCCTCACTGGGGTGTATAACGGCAGGTGGGGTGGGCGTGCTCCTGAA TCTCAGAAGCCTCACTGGGGGGCATAACGGCAGG	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	6/11			chr6	TogoVar
PRRT3_chr3_9940542_9957408	9940761	A A	AAGGGAGA others(103): Show AAGGGAGAGGGAGAGGGAGAGGGAGACCATGGGGAGAGGGAGAGGGAGGC CATGGGGAGAGGGAGAGGGAAAGGGGGAGGGGGAGGGGAGGGGGGGGAGG GAGGGAAGGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0005 a0002c0002t0001g0005	1	378	0.0027	110	c.54 others(121): Show c.5465_*5466insCGCCTTCCCTCCCTCCCCCCCCTCCCCTCCCCCT CCCCCTTTCCCTCTCCCTCTCCCCATGGCCTCCCTCTCCCTCTCCCCATG GTCTCCCTCTCCCTCTCCCTCTCCCT	PRRT3	ENSG00000163704.13	transcript	ENST00000412055.6	protein_coding		4780		chr3	TogoVar
PSME3_chr17_42828397_42848760	42848544	T T	TATATATA others(103): Show TATATATATACGTATATATATATATATATATACACGTATATATATATATA TATATACACGTATATATATATATATATATATACGTATATATATATATATA TATATATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	264	0.0038	110	c.69 others(121): Show c.6966_*6967insATATATATACGTATATATATATATATATATACAC GTATATATATATATATATATACACGTATATATATATATATATATATACGT ATATATATATATATATATATATATAC	PSME3	ENSG00000131467.12	transcript	ENST00000590720.6	protein_coding		4785		chr17	TogoVar
PTHLH_chr12_27953084_27977733	27961276	C C	CATATATA others(103): Show CATATATATACGTATATATATATACGTATATATATATACGTATATATATA TACGTATATATATACGTATATATATATACGTATATATATATATACGTATA TATATACGTAT	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0236 a0001c0001t0002g0236	1	456	0.0022	110	c.524 others(127): Show c.524+2071_524+2072insATACGTATATATATACGTATATATATAT ATACGTATATATATATACGTATATATATACGTATATATATATACGTATAT ATATATACGTATATATATATACGTATATATAT	PTHLH	ENSG00000087494.16	transcript	ENST00000545234.6	protein_coding	5/5			chr12	TogoVar
PTHLH_chr12_27953084_27977733	27961301	G G	GTATATAT others(103): Show GTATATATATATACGTATATATATATACGTATATATATACGTATATATAT ATACGTATATATATATACGTATATATATACGTATATATATATACGTATAT ATATATACGTA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp1 HG00438.hp2 others(113): Show HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp2 HG00741.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01099.hp1 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01243.hp2 HG01256.hp1 HG01258.hp2 HG01346.hp2 HG01361.hp2 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01952.hp1 HG01978.hp1 HG01981.hp2 HG02004.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02132.hp2 HG02155.hp1 HG02258.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02602.hp1 HG02630.hp2 HG02683.hp1 HG02717.hp2 HG02896.hp1 HG02922.hp1 HG02965.hp1 HG03209.hp2 HG03453.hp2 HG03471.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04199.hp1 HG04204.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp2 NA18940.hp2 NA18941.hp2 NA18944.hp2 NA18946.hp2 NA18947.hp2 NA18962.hp2 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp1 NA18972.hp1 NA18973.hp1 NA18975.hp2 NA18978.hp1 NA18979.hp2 NA18980.hp2 NA18983.hp2 NA18984.hp1 NA18985.hp1 NA18987.hp2 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18994.hp2 NA18995.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19001.hp1 NA19002.hp2 NA19005.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19012.hp1 NA19054.hp2 NA19072.hp1 NA19072.hp2 NA19075.hp1 NA19075.hp2 NA19076.hp2 NA19080.hp1 NA19080.hp2 NA19089.hp2 NA20300.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013	a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0046 others(46): Show a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0046 a0001c0001t0001g0219 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0028 a0001c0001t0002g0030 a0001c0001t0002g0032 a0001c0001t0002g0042 a0001c0001t0002g0047 a0001c0001t0002g0050 a0001c0001t0002g0052 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0059 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0102 a0001c0001t0002g0127 a0001c0001t0002g0137 a0001c0001t0002g0143 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0162 a0001c0001t0002g0166 a0001c0001t0002g0170 a0001c0001t0002g0172 a0001c0001t0002g0182 a0001c0001t0002g0189 a0001c0001t0002g0196 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0220 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0005g0006 a0001c0001t0005g0064 a0001c0001t0005g0068 a0001c0001t0005g0069 a0001c0001t0010g0031 a0001c0001t0010g0217 a0001c0001t0011g0145 a0001c0001t0013g0107	116	456	0.2544	110	c.524 others(127): Show c.524+2046_524+2047insTACGTATATATATATACGTATATATATA TACGTATATATATACGTATATATATATACGTATATATATATACGTATATA TATACGTATATATATATACGTATATATATATA	PTHLH	ENSG00000087494.16	transcript	ENST00000545234.6	protein_coding	5/5			chr12	TogoVar
PTPRD_chr9_8309246_10618002	10438016	T T	TATTATAT others(103): Show TATTATATATATATTATATATATATAATATATATATATATTATATATATA TAATATATATATAATATATATATATAATATATATATATTATATATATATA ATATATATATA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0019 a0001c0005t0001g0019	1	34	0.0294	110	c.-59 others(131): Show c.-599-97000_-599-96999insTATATATATATTATATATATATAA TATATATATATTATATATATATATTATATATATATTATATATATATAATA TATATATATATTATATATATATAATATATATATAAT	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	2/45			chr9	TogoVar
PTPRR_chr12_70633079_70925738	70687315	T T	TTTATATA others(103): Show TTTATATATATGTTATACATATATAACATATATAACATATAGTTATATAT ATAACATATATAACATATAGTTATATATATAACATATAAAACATATAGTT TTATATATATG	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0020 a0003c0003t0001g0020	1	204	0.0049	110	c.128 others(129): Show c.1280-2533_1280-2532insCATATATATAAAACTATATGTTTTAT ATGTTATATATATAACTATATGTTATATATGTTATATATATAACTATATG TTATATATGTTATATATGTATAACATATATATAA	PTPRR	ENSG00000153233.13	transcript	ENST00000283228.7	protein_coding	8/13			chr12	TogoVar
PTPRT_chr20_42067756_43194906	42993456	A A	ATACACAC others(103): Show ATACACACATATATATATGTGTATATATATATACATACACATATATATGT GTATGTATATATATATACACACATATATATGTGTGTGTATATATATATAC ACATATATATG	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0030 a0002c0016t0030	a0002c0016t0030g0014 a0002c0016t0030g0014	1	62	0.0161	110	c.89- others(129): Show c.89-107525_89-107524insCATATATATGTGTATATATATATACA CACACATATATATGTGTGTATATATATATACATACACATATATATGTGTA TGTATATATATATACACATATATATATGTGTGTA	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	1/30			chr20	TogoVar
PXDN_chr2_1626887_1749515	1720095	C C	CAGAGAGA others(103): Show CAGAGAGAGAGGGAGGGAAGAATGCAGAGAGAGAGAGAGGGAGGGAGGGA TGCAGAGAGAGAGAGATGCACAGAGAGAGGGAGGGATGCAGAGAGAGGGA GGGATGCAGAG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	322	0.0031	110	c.200 others(129): Show c.200+24160_200+24161insCTCTGCATCCCTCCCTCTCTCTGCAT CCCTCCCTCTCTCTGTGCATCTCTCTCTCTCTGCATCCCTCCCTCCCTCT CTCTCTCTCTGCATTCTTCCCTCCCTCTCTCTCT	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
PXDN_chr2_1626887_1749515	1720206	G G	GGAGGGAT others(103): Show GGAGGGATGCAGAGAGAGAGAGAGAGAGGGAGGGATGCAGAGAGAGAGAG AGAGAGGGAGGGATGCAGAGAGAGAGAGAGGGAGGGAGGGATGCAGAGAG AGAGAGATGCA	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0067 a0001c0001t0002g0067	1	322	0.0031	110	c.200 others(129): Show c.200+24049_200+24050insTGCATCTCTCTCTCTCTGCATCCCTC CCTCCCTCTCTCTCTCTCTGCATCCCTCCCTCTCTCTCTCTCTCTCTGCA TCCCTCCCTCTCTCTCTCTCTCTCTGCATCCCTC	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
QPCT_chr2_37339630_37378322	37347170	T T	TATATATA others(103): Show TATATATATATATATATATATCATATATATATAACATATATATAACATAT ATATATAACATATATATAACATATATATAACATATATATATAACATATAT ATATATATAAC	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0232 a0001c0003t0002g0232	1	442	0.0023	110	c.120 others(127): Show c.120+2328_120+2329insTATATATATATCATATATATATAACATA TATATAACATATATATATAACATATATATAACATATATATAACATATATA TATAACATATATATATATATAACATATATATA	QPCT	ENSG00000115828.17	transcript	ENST00000338415.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
RAB11FIP3_chr16_420649_528011	467542	A A	AGGGGCCT others(103): Show AGGGGCCTCAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCTGGGGC CTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCGGGGGCGTCAGG GAGGAGGTGCG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0022 a0004c0007t0022	a0004c0007t0022g0067 a0004c0007t0022g0067	1	295	0.0034	110	c.809 others(127): Show c.809-3688_809-3687insAGGGGCGTCAGGGAGGAGGTGCGGGGGC GTCAGGGAGGAGGTGCGGGGGCCTCAGGGAGGAGGTGCTGGGACGTCAGG GAGGAGGTGCTGGGGCCTCAGGGAGGAGGTGC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB31_chr18_9703301_9867551	9836777	T T	TAGAGTCA others(103): Show TAGAGTCAGTGTGTGAGGAACGGGGTGAAACATGGGGAGATTCAGTGTGT GAGGAACCGGGGGAAACATGGGGAGATTCAGTGTGTGAGGAACGGGGTGA AACACAAGGGG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(41): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00323.hp1 HG00639.hp1 HG00735.hp1 HG00741.hp2 HG01071.hp2 HG01099.hp1 HG01175.hp1 HG01884.hp2 HG01943.hp1 HG01978.hp1 HG02080.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02572.hp2 HG02622.hp1 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02818.hp2 HG03130.hp1 HG03139.hp2 HG03225.hp1 HG03471.hp2 HG03490.hp1 HG03516.hp1 HG03669.hp2 HG03710.hp1 HG04199.hp2 NA18612.hp1 NA18612.hp2 NA18951.hp2 NA18954.hp1 NA18983.hp2 NA18989.hp2 NA19070.hp1 NA19070.hp2 NA20129.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0025 a0001c0001t0035 a0001c0001t0044 a0001c0001t0050	a0001c0001t0001g0005 a0001c0001t0001g0028 a0001c0001t0001g0047 others(41): Show a0001c0001t0001g0005 a0001c0001t0001g0028 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0055 a0001c0001t0001g0094 a0001c0001t0001g0167 a0001c0001t0001g0197 a0001c0001t0001g0212 a0001c0001t0001g0234 a0001c0001t0001g0241 a0001c0001t0001g0258 a0001c0001t0001g0277 a0001c0001t0001g0281 a0001c0001t0002g0002 a0001c0001t0002g0040 a0001c0001t0002g0051 a0001c0001t0002g0059 a0001c0001t0002g0080 a0001c0001t0002g0110 a0001c0001t0002g0120 a0001c0001t0002g0171 a0001c0001t0002g0184 a0001c0001t0002g0186 a0001c0001t0002g0262 a0001c0001t0002g0284 a0001c0001t0002g0295 a0001c0001t0002g0300 a0001c0001t0003g0020 a0001c0001t0004g0220 a0001c0001t0004g0319 a0001c0001t0006g0291 a0001c0001t0008g0093 a0001c0001t0011g0023 a0001c0001t0012g0251 a0001c0001t0013g0156 a0001c0001t0013g0172 a0001c0001t0013g0198 a0001c0001t0015g0115 a0001c0001t0015g0117 a0001c0001t0025g0182 a0001c0001t0035g0073 a0001c0001t0044g0159 a0001c0001t0050g0160	44	322	0.1367	110	c.381 others(127): Show c.381-8749_381-8748insCGGGGGAAACATGGGGAGATTCAGTGTG TGAGGAACGGGGTGAAACACAAGGGGAGAGTCAGTGTGTGAGGAACGGGG TGAAACATGGGGAGATTCAGTGTGTGAGGAAC	RAB31	ENSG00000168461.13	transcript	ENST00000578921.6	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
RAB3GAP1_chr2_135047292_135175710	135078645	G G	GTCCCCTC others(103): Show GTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCC CTCCCCTCCCC	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0025 a0004c0005t0025	a0004c0005t0025g0221 a0004c0005t0025g0221	1	280	0.0036	110	c.151 others(129): Show c.151-12307_151-12306insCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT	RAB3GAP1	ENSG00000115839.19	transcript	ENST00000264158.13	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
RAB40B_chr17_82649973_82703698	82672346	T T	TCACATGC others(103): Show TCACATGCTCTCTGTACTCACTGACACACCCCACCCATGTAACTCTAACA CACACACTCACATGCTCTCTGAACTCACTGACACACCCCACCCCTGTAAC TCTAACACACA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03225.hp2 HG03579.hp1 others(2): Show HG02809.hp1 HG03225.hp2 HG03579.hp1 NA18970.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0004 a0001c0001t0030 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0030 a0001c0002t0004	a0001c0001t0002g0319 a0001c0001t0004g0060 a0001c0001t0030g0226 others(1): Show a0001c0001t0002g0319 a0001c0001t0004g0060 a0001c0001t0030g0226 a0001c0002t0004g0001	5	338	0.0148	110	c.143 others(127): Show c.143-7791_143-7790insTGTGTGTTAGAGTTACAGGGGTGGGGTG TGTCAGTGAGTTCAGAGAGCATGTGAGTGTGTGTGTTAGAGTTACATGGG TGGGGTGTGTCAGTGAGTACAGAGAGCATGTG	RAB40B	ENSG00000141542.11	transcript	ENST00000571995.6	protein_coding	1/5			chr17	TogoVar
RAD17_chr5_69364818_69419801	69377562	T T	TATATGTG others(103): Show TATATGTGTATATATATACGTATATATGTATATATGTGTATATATATACG TATATATATGCATATATATGTATACATATATATGCATATATATGTATACA TATATATATGC	intron_variant intron_variant	MODIFIER	HG02559.hp1 NA18989.hp2 HG02559.hp1 NA18989.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0136 a0002c0002t0001g0137 a0002c0002t0001g0136 a0002c0002t0001g0137	2	359	0.0056	110	c.351 others(127): Show c.351+2855_351+2856insGTGTATATATATACGTATATATGTATAT ATGTGTATATATATACGTATATATATGCATATATATGTATACATATATAT GCATATATATGTATACATATATATATGCATAT	RAD17	ENSG00000152942.19	transcript	ENST00000354868.10	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr5	TogoVar
RAD52_chr12_906736_954694	952995	A A	AGGGGGAA others(103): Show AGGGGGAAGGGAGGGGGTGGGGGGAGGGGGGAAGGGAGGGGGTGGGGGGA GGGGGAGGGGGGTGGGGGGAGGGGGGAGGGGGGTGGGGGGAGGGGGGAGG GGGTGGGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0127 a0001c0001t0036g0127	1	400	0.0025	110	c.-34 others(121): Show c.-3413_-3412insCTCCCCCACCCCCTCCCCCCTCCCCCCACCCCCC TCCCCCCTCCCCCCACCCCCCTCCCCCTCCCCCCACCCCCTCCCTTCCCC CCTCCCCCCACCCCCTCCCTTCCCCC	RAD52	ENSG00000002016.18	transcript	ENST00000358495.8	protein_coding		3302		chr12	TogoVar
RAD52_chr12_906736_954694	952995	A A	AGGGGGAA others(103): Show AGGGGGAAGGGAGGGGGTGGGGGGAGGGGGGAAGGGAGGGGGTGGGGGGA GGGGGAGGGGGTGGGGGGAGGGGGGAGGGGGGGTGGGGGGAGGGGGGAGG GGGTGGGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0106 a0001c0001t0009g0106	1	400	0.0025	110	c.-34 others(121): Show c.-3413_-3412insCTCCCCCACCCCCTCCCCCCTCCCCCCACCCCCC CTCCCCCCTCCCCCCACCCCCTCCCCCTCCCCCCACCCCCTCCCTTCCCC CCTCCCCCCACCCCCTCCCTTCCCCC	RAD52	ENSG00000002016.18	transcript	ENST00000358495.8	protein_coding		3302		chr12	TogoVar
RAD52_chr12_906736_954694	952995	A A	AGGGGGAA others(103): Show AGGGGGAAGGGAGGGGGTGGGGGGAGGGGGGAAGGGAGGGGGTGGGGGGA GGGGGAGGGGGTGGGGGGAGGGGGGAGGGGGGTGGGGGAGGGGGGGAGGG GGTGGGGGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	400	0.0025	110	c.-34 others(121): Show c.-3413_-3412insCCTCCCCCACCCCCTCCCCCCCTCCCCCACCCCC CTCCCCCCTCCCCCCACCCCCTCCCCCTCCCCCCACCCCCTCCCTTCCCC CCTCCCCCCACCCCCTCCCTTCCCCC	RAD52	ENSG00000002016.18	transcript	ENST00000358495.8	protein_coding		3302		chr12	TogoVar
RAD52_chr12_906736_954694	952995	A A	AGGGGGAA others(103): Show AGGGGGAAGGGAGGGGGTGGGGGGAGGGGGGAAGGGAGGGGGTGGGGGGA GGGGGAGGGGGTGGGGGGAGGGGGGAGGGGGGTGGGGGGAGGGGGGAGGG GGTGGGGGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 NA18951.hp2 HG00609.hp1 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0178 a0001c0001t0001g0138 a0001c0001t0001g0178	2	400	0.0050	110	c.-34 others(121): Show c.-3413_-3412insCCTCCCCCACCCCCTCCCCCCTCCCCCCACCCCC CTCCCCCCTCCCCCCACCCCCTCCCCCTCCCCCCACCCCCTCCCTTCCCC CCTCCCCCCACCCCCTCCCTTCCCCC	RAD52	ENSG00000002016.18	transcript	ENST00000358495.8	protein_coding		3302		chr12	TogoVar
RAD52_chr12_906736_954694	952995	A A	AGGGGGAA others(103): Show AGGGGGAAGGGAGGGGGTGGGGGGAGGGGGGAAGGGAGGGGGTGGGGGGA GGGGGAGGGGGTGGGGGGAGGGGGGAGGGGGGTGGGGGGAGGGGGGGAGG GGGTGGGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG02965.hp1 HG00544.hp2 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0134 a0001c0001t0001g0114 a0001c0001t0001g0134	2	400	0.0050	110	c.-34 others(121): Show c.-3413_-3412insCTCCCCCACCCCCTCCCCCCCTCCCCCCACCCCC CTCCCCCCTCCCCCCACCCCCTCCCCCTCCCCCCACCCCCTCCCTTCCCC CCTCCCCCCACCCCCTCCCTTCCCCC	RAD52	ENSG00000002016.18	transcript	ENST00000358495.8	protein_coding		3302		chr12	TogoVar
RAD52_chr12_906736_954694	952995	A A	AGGGGGAA others(103): Show AGGGGGAAGGGAGGGGGTGGGGGGAGGGGGGAAGGGAGGGGGTGGGGGGA GGGGGAGGGGGTGGGGGGAGGGGGGAGGGGGGTGGGGGGGAGGGGGGAGG GGGTGGGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	400	0.0025	110	c.-34 others(121): Show c.-3413_-3412insCTCCCCCACCCCCTCCCCCCTCCCCCCCACCCCC CTCCCCCCTCCCCCCACCCCCTCCCCCTCCCCCCACCCCCTCCCTTCCCC CCTCCCCCCACCCCCTCCCTTCCCCC	RAD52	ENSG00000002016.18	transcript	ENST00000358495.8	protein_coding		3302		chr12	TogoVar
RAD52_chr12_906736_954694	952995	A A	AGGGGGAA others(103): Show AGGGGGAAGGGAGGGGGTGGGGGGAGGGGGGAAGGGAGGGGGTGGGGGGA GGGGGAGGGGGTGGGGGGGAGGGGGGAGGGGGGTGGGGGGAGGGGGGAGG GGGTGGGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0107 a0001c0001t0039g0107	1	400	0.0025	110	c.-34 others(121): Show c.-3413_-3412insCTCCCCCACCCCCTCCCCCCTCCCCCCACCCCCC TCCCCCCTCCCCCCCACCCCCTCCCCCTCCCCCCACCCCCTCCCTTCCCC CCTCCCCCCACCCCCTCCCTTCCCCC	RAD52	ENSG00000002016.18	transcript	ENST00000358495.8	protein_coding		3302		chr12	TogoVar
RAD52_chr12_906736_954694	952995	A A	AGGGGGAA others(103): Show AGGGGGAAGGGAGGGGGTGGGGGGAGGGGGGAAGGGAGGGGGTGGGGGGA GGGGGGAGGGGGGTGGGGGAGGGGGAGGGGGGTGGGGGGAGGGGGGGAGG GGGTGGGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0093 a0001c0001t0022g0093	1	400	0.0025	110	c.-34 others(121): Show c.-3413_-3412insCTCCCCCACCCCCTCCCCCCCTCCCCCCACCCCC CTCCCCCTCCCCCACCCCCCTCCCCCCTCCCCCCACCCCCTCCCTTCCCC CCTCCCCCCACCCCCTCCCTTCCCCC	RAD52	ENSG00000002016.18	transcript	ENST00000358495.8	protein_coding		3302		chr12	TogoVar
RAD52_chr12_906736_954694	952995	A A	AGGGGGAA others(103): Show AGGGGGAAGGGAGGGGGTGGGGGGAGGGGGGAAGGGAGGGGGTGGGGGGA GGGGGGAGGGGGTGGGGGAGGGGGGAGGGGGGTGGGGGGAGGGGGGAGGG GGTGGGGGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0046 a0001c0001t0005g0046	1	400	0.0025	110	c.-34 others(121): Show c.-3413_-3412insCCTCCCCCACCCCCTCCCCCCTCCCCCCACCCCC CTCCCCCCTCCCCCACCCCCTCCCCCCTCCCCCCACCCCCTCCCTTCCCC CCTCCCCCCACCCCCTCCCTTCCCCC	RAD52	ENSG00000002016.18	transcript	ENST00000358495.8	protein_coding		3302		chr12	TogoVar
RAD52_chr12_906736_954694	952995	A A	AGGGGGAA others(103): Show AGGGGGAAGGGAGGGGGTGGGGGGAGGGGGGAAGGGAGGGGGTGGGGGGA GGGGGGAGGGGGTGGGGGAGGGGGGAGGGGGGTGGGGGGAGGGGGGGAGG GGGTGGGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0094 a0001c0001t0005g0094	1	400	0.0025	110	c.-34 others(121): Show c.-3413_-3412insCTCCCCCACCCCCTCCCCCCCTCCCCCCACCCCC CTCCCCCCTCCCCCACCCCCTCCCCCCTCCCCCCACCCCCTCCCTTCCCC CCTCCCCCCACCCCCTCCCTTCCCCC	RAD52	ENSG00000002016.18	transcript	ENST00000358495.8	protein_coding		3302		chr12	TogoVar
RAD52_chr12_906736_954694	952995	A A	AGGGGGAA others(103): Show AGGGGGAAGGGAGGGGGTGGGGGGAGGGGGGAAGGGAGGGGGTGGGGGGA GGGGGGAGGGGGTGGGGGAGGGGGGAGGGGGGTGGGGGGGAGGGGGGAGG GGGTGGGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0096 a0001c0001t0003g0096	1	400	0.0025	110	c.-34 others(121): Show c.-3413_-3412insCTCCCCCACCCCCTCCCCCCTCCCCCCCACCCCC CTCCCCCCTCCCCCACCCCCTCCCCCCTCCCCCCACCCCCTCCCTTCCCC CCTCCCCCCACCCCCTCCCTTCCCCC	RAD52	ENSG00000002016.18	transcript	ENST00000358495.8	protein_coding		3302		chr12	TogoVar
RAD52_chr12_906736_954694	952995	A A	AGGGGGAA others(103): Show AGGGGGAAGGGAGGGGGTGGGGGGAGGGGGGAAGGGAGGGGGTGGGGGGA GGGGGGAGGGGGTGGGGGGAGGGGGGAGGGGGGTGGGGGGAGGGGGGAGG GGGTGGGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02148.hp1 HG02148.hp2 HG02148.hp1 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0009 a0001c0001t0003 a0001c0001t0009	a0001c0001t0003g0168 a0001c0001t0009g0171 a0001c0001t0003g0168 a0001c0001t0009g0171	2	400	0.0050	110	c.-34 others(121): Show c.-3413_-3412insCTCCCCCACCCCCTCCCCCCTCCCCCCACCCCCC TCCCCCCTCCCCCCACCCCCTCCCCCCTCCCCCCACCCCCTCCCTTCCCC CCTCCCCCCACCCCCTCCCTTCCCCC	RAD52	ENSG00000002016.18	transcript	ENST00000358495.8	protein_coding		3302		chr12	TogoVar
RAD52_chr12_906736_954694	952995	A A	AGGGGGAA others(103): Show AGGGGGAAGGGAGGGGGTGGGGGGAGGGGGGAAGGGAGGGGGTGGGGGGA GGGGGGGAGGGGGTGGGGGAGGGGGGAGGGGGGTGGGGGGAGGGGGGAGG GGGTGGGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0098 a0001c0001t0005g0098	1	400	0.0025	110	c.-34 others(121): Show c.-3413_-3412insCTCCCCCACCCCCTCCCCCCTCCCCCCACCCCCC TCCCCCCTCCCCCACCCCCTCCCCCCCTCCCCCCACCCCCTCCCTTCCCC CCTCCCCCCACCCCCTCCCTTCCCCC	RAD52	ENSG00000002016.18	transcript	ENST00000358495.8	protein_coding		3302		chr12	TogoVar
RAD52_chr12_906736_954694	953001	A A	AAGGGAGG others(103): Show AAGGGAGGGGGTGGGGGGAGGGGGGAAGGGAGGGGGTGGGGGGAGGGGGG AGGGGGTGGGGGAGGGGGGAGGGGGGTGGGGGGAGGGGGGAGGGGGTGGG GGAGGGGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0167 a0001c0001t0012g0167	1	400	0.0025	110	c.-34 others(121): Show c.-3419_-3418insCTCCCCCCTCCCCCACCCCCTCCCCCCTCCCCCC ACCCCCCTCCCCCCTCCCCCACCCCCTCCCCCCTCCCCCCACCCCCTCCC TTCCCCCCTCCCCCCACCCCCTCCCT	RAD52	ENSG00000002016.18	transcript	ENST00000358495.8	protein_coding		3308		chr12	TogoVar
RADIL_chr7_4792055_4888716	4886285	T T	TATATATA others(103): Show TATATATATATATGTGTATATATATATGTATATATACATATATATATGTA TATATACATATATATATGTATATATACATATATATATGTATATATATATA TATATATACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 HG02970.hp2 HG03486.hp1 others(1): Show HG02886.hp2 HG02970.hp2 HG03486.hp1 NA18906.hp2	a0003 a0012 a0041 a0003 a0012 a0041	a0003c0014 a0003c0029 a0012c0042 others(1): Show a0003c0014 a0003c0029 a0012c0042 a0041c0031	a0003c0014t0020 a0003c0029t0045 a0012c0042t0008 others(1): Show a0003c0014t0020 a0003c0029t0045 a0012c0042t0008 a0041c0031t0002	a0003c0014t0020g0139 a0003c0029t0045g0117 a0012c0042t0008g0138 others(1): Show a0003c0014t0020g0139 a0003c0029t0045g0117 a0012c0042t0008g0138 a0041c0031t0002g0137	4	292	0.0137	110	c.-27 others(121): Show c.-2755_-2754insGTGTATATATATATATATATATACATATATATAT GTATATATACATATATATATGTATATATACATATATATATGTATATATAC ATATATATATACACATATATATATAT	RADIL	ENSG00000157927.17	transcript	ENST00000399583.4	protein_coding		2570		chr7	TogoVar
RBCK1_chr20_403299_437139	407969	C C	CGCCCCCC others(103): Show CGCCCCCCGGCCCCGCCCACCCCGCCTCGCGGCCCCCGGCCCCGCCCCCG GCCCCGCCCACCCCGCCTCGCGGCCCCCGGCCCCGCCCCCGGCCCCGCCC ACCCCGCCTCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 homoSapiens_chm13v2.hp1 HG00099.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0199 a0001c0001t0001g0195 a0001c0001t0001g0199	2	452	0.0044	110	c.-78 others(119): Show c.-789_-788insGCCCCCCGGCCCCGCCCACCCCGCCTCGCGGCCCCC GGCCCCGCCCCCGGCCCCGCCCACCCCGCCTCGCGGCCCCCGGCCCCGCC CCCGGCCCCGCCCACCCCGCCTCG	RBCK1	ENSG00000125826.22	transcript	ENST00000356286.10	protein_coding		329		chr20	TogoVar
RBFOX1_chr16_6014024_7718340	7683010	G G	GTGTATAT others(103): Show GTGTATATATACACACACACACACATATATACGTATATATATGTGTGTGT GTATATATACACACACACATATATACGTATATATGTGTGTGTGTGTATAT ATATATATATA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG03490.hp2 HG03831.hp1 others(1): Show HG01261.hp2 HG03490.hp2 HG03831.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0016 a0001c0001t0036 a0001c0001t0002 a0001c0001t0016 a0001c0001t0036	a0001c0001t0002g0015 a0001c0001t0002g0044 a0001c0001t0016g0011 others(1): Show a0001c0001t0002g0015 a0001c0001t0002g0044 a0001c0001t0016g0011 a0001c0001t0036g0032	4	68	0.0588	110	c.995 others(127): Show c.995+6173_995+6174insGTATATATACACACACACACACATATAT ACGTATATATATGTGTGTGTGTATATATACACACACACATATATACGTAT ATATGTGTGTGTGTGTATATATATATATATAT	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	7683010	G G	GTGTATAT others(103): Show GTGTATATATACACACACACACATATATACGTATATATGTGTGTGTGTGT ATATATACACACACACATATATACGTATATATGTGTGTGTATATATATAT ATATATATATA	intron_variant intron_variant	MODIFIER	HG03098.hp2 NA21309.hp2 HG03098.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0053 a0001c0001t0009g0036 a0001c0001t0001g0053 a0001c0001t0009g0036	2	68	0.0294	110	c.995 others(127): Show c.995+6173_995+6174insGTATATATACACACACACACATATATAC GTATATATGTGTGTGTGTGTATATATACACACACACATATATACGTATAT ATGTGTGTGTATATATATATATATATATATAT	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_7327845_7718340	7683010	G G	GTGTATAT others(103): Show GTGTATATATACACACACACACACATATATACGTATATATATGTGTGTGT ATATATACACACACACATATATACGTATATATGTGTGTGTGTGTGTATAT ATATATATATA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0122 a0001c0005t0003g0122	1	234	0.0043	110	c.105 others(129): Show c.1058+6173_1058+6174insGTATATATACACACACACACACATAT ATACGTATATATATGTGTGTGTATATATACACACACACATATATACGTAT ATATGTGTGTGTGTGTGTATATATATATATATAT	RBFOX1	ENSG00000078328.23	transcript	ENST00000355637.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_7327845_7718340	7683010	G G	GTGTATAT others(103): Show GTGTATATATACACACACACACACATATATACGTATATATATGTGTGTGT GTATATATACACACACACATATATACGTATATATGTGTGTGTGTGTATAT ATATATATATA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01256.hp1 HG02895.hp1 others(6): Show HG00642.hp2 HG01256.hp1 HG02895.hp1 HG02897.hp2 HG03490.hp2 HG03831.hp1 NA19043.hp1 NA20752.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0007	a0001c0001t0001 a0001c0002t0008 a0001c0003t0005 others(2): Show a0001c0001t0001 a0001c0002t0008 a0001c0003t0005 a0001c0006t0002 a0001c0007t0001	a0001c0001t0001g0065 a0001c0001t0001g0093 a0001c0001t0001g0152 others(6): Show a0001c0001t0001g0065 a0001c0001t0001g0093 a0001c0001t0001g0152 a0001c0001t0001g0200 a0001c0002t0008g0092 a0001c0003t0005g0037 a0001c0006t0002g0012 a0001c0006t0002g0015 a0001c0007t0001g0060	9	234	0.0385	110	c.105 others(129): Show c.1058+6173_1058+6174insGTATATATACACACACACACACATAT ATACGTATATATATGTGTGTGTGTATATATACACACACACATATATACGT ATATATGTGTGTGTGTGTATATATATATATATAT	RBFOX1	ENSG00000078328.23	transcript	ENST00000355637.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_7327845_7718340	7683010	G G	GTGTATAT others(103): Show GTGTATATATACACACACACACACATATATACGTATATATATGTGTGTGT GTATATATACACACACACATATATACGTATATATGTGTGTGTGTGTGTAT ATATATATATA	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	234	0.0043	110	c.105 others(129): Show c.1058+6173_1058+6174insGTATATATACACACACACACACATAT ATACGTATATATATGTGTGTGTGTATATATACACACACACATATATACGT ATATATGTGTGTGTGTGTGTATATATATATATAT	RBFOX1	ENSG00000078328.23	transcript	ENST00000355637.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_7327845_7718340	7683010	G G	GTGTATAT others(103): Show GTGTATATATACACACACACACATATATACGTATATATGTGTGTGTGTGT ATATATACACACACACATATATACGTATATATGTGTGTGTATATATATAT ATATATATATA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG03098.hp1 HG03654.hp1 others(4): Show HG00639.hp1 HG03098.hp1 HG03654.hp1 NA18747.hp2 NA18986.hp2 NA18989.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0024	a0001c0001t0006 a0001c0002t0002 a0001c0004t0012 others(2): Show a0001c0001t0006 a0001c0002t0002 a0001c0004t0012 a0001c0005t0003 a0001c0024t0014	a0001c0001t0006g0155 a0001c0002t0002g0054 a0001c0002t0002g0070 others(4): Show a0001c0001t0006g0155 a0001c0002t0002g0054 a0001c0002t0002g0070 a0001c0002t0002g0081 a0001c0004t0012g0195 a0001c0005t0003g0017 a0001c0024t0014g0043	7	234	0.0299	110	c.105 others(129): Show c.1058+6173_1058+6174insGTATATATACACACACACACATATAT ACGTATATATGTGTGTGTGTGTATATATACACACACACATATATACGTAT ATATGTGTGTGTATATATATATATATATATATAT	RBFOX1	ENSG00000078328.23	transcript	ENST00000355637.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_7327845_7718340	7683010	G G	GTGTGTAT others(103): Show GTGTGTATATATACACACACACACACATATATACGTATATATATGTGTGT GTGTATATATACACACACACATATATACGTATATGTGTGTGTGTGTGTAT ATATATATATA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0030 a0001c0001t0017g0030	1	234	0.0043	110	c.105 others(129): Show c.1058+6173_1058+6174insGTGTATATATACACACACACACACAT ATATACGTATATATATGTGTGTGTGTATATATACACACACACATATATAC GTATATGTGTGTGTGTGTGTATATATATATATAT	RBFOX1	ENSG00000078328.23	transcript	ENST00000355637.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX3_chr17_79084345_79616051	79284030	A A	ACATTTGC others(103): Show ACATTTGCCTGTTTCAGTACTTATAAATGGAGATGCCTTCTCCAGGACCA TCGTAACATTTGCCTGTTTCAGTACTTATAAATGGAGATGCCTTCTCCAG GACCATCGTAT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02809.hp2 HG02717.hp1 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0004 a0001c0001t0005	a0001c0001t0004g0133 a0001c0001t0005g0144 a0001c0001t0004g0133 a0001c0001t0005g0144	2	154	0.0130	110	c.-74 others(129): Show c.-74+23693_-74+23694insATACGATGGTCCTGGAGAAGGCATCT CCATTTATAAGTACTGAAACAGGCAAATGTTACGATGGTCCTGGAGAAGG CATCTCCATTTATAAGTACTGAAACAGGCAAATG	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	3/14			chr17	TogoVar
RFLNA_chr12_124290093_124321024	124296124	C C	CTTTCTTT others(103): Show CTTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTCTCTCTTTCTCTCTCTCTCTCTCTTTCTCTTTCTTT CTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA19091.hp2 NA18995.hp2 NA19091.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0096 a0001c0002t0002g0097 a0001c0002t0002g0096 a0001c0002t0002g0097	2	388	0.0052	110	c.207 others(125): Show c.207+489_207+490insTTCTTTCTTTCTTTCTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTTTCTCTCTCTCT CTCTCTTTCTCTTTCTTTCTTTCTTTCTTT	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
RFLNA_chr12_124290093_124321024	124296152	T T	TTTTCTTT others(103): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCT TTCTCTCTCTCTCTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0224 a0001c0003t0014g0224	1	388	0.0026	110	c.207 others(125): Show c.207+517_207+518insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTCTCTTTCTCTCTCTCTCTCTTTCTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
RFLNA_chr12_124290093_124321024	124296152	T T	TTTTCTTT others(103): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT CTCTTTCTCTCTCTCTCTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0019	a0001c0002t0019g0225 a0001c0002t0019g0225	1	388	0.0026	110	c.207 others(125): Show c.207+517_207+518insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTCTCTTTCTCTCTCTCTCTCTTTCTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
RFLNA_chr12_124290093_124321024	124296157	T T	TCTTTTTT others(103): Show TCTTTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTTTCTCTCT CTCTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0219 a0001c0002t0007g0219	1	388	0.0026	110	c.207 others(125): Show c.207+521_207+522insCTTTTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTCTCTTTCTCTCTCTCTCTCTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2			chr12	TogoVar
RFX3_chr9_3213297_3531001	3504951	T T	TATATTAT others(103): Show TATATTATATATAATATATATAATATAATATATTATATATATTATATATA ATATAATATATTATATATAATATATATAATATAATATATTATATATAATA TATATAATATA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02886.hp1 HG02809.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0015 a0001c0001t0007 a0001c0001t0015	a0001c0001t0007g0024 a0001c0001t0015g0083 a0001c0001t0007g0024 a0001c0001t0015g0083	2	196	0.0102	110	c.-9+ others(127): Show c.-9+20795_-9+20796insTATATTATATATATTATATATAATATAT TATATTATATATATTATATATAATATATTATATTATATATAATATATATA ATATATTATATTATATATATTATATATAATAT	RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	1/16			chr9	TogoVar
RGL1_chr1_183800120_183933532	183887206	T T	TCCTGTCC others(103): Show TCCTGTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCT TCCTTCCTTCTTTCCTCCCTCCCTCCCTCCCTCTCTTTCTTTGTTTCTCT CTTTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(88): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00642.hp2 HG00741.hp1 HG01069.hp1 HG01070.hp2 HG01099.hp2 HG01109.hp2 HG01123.hp2 HG01192.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01358.hp1 HG01433.hp2 HG01891.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01993.hp2 HG02004.hp1 HG02055.hp1 HG02055.hp2 HG02083.hp1 HG02129.hp2 HG02132.hp1 HG02145.hp1 HG02148.hp2 HG02165.hp2 HG02258.hp2 HG02559.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02897.hp2 HG03041.hp1 HG03098.hp1 HG03195.hp2 HG03225.hp1 HG03486.hp2 HG03540.hp2 HG03654.hp1 HG03688.hp2 HG03927.hp2 HG03942.hp2 HG04199.hp1 NA18939.hp2 NA18949.hp2 NA18951.hp1 NA18952.hp1 NA18960.hp1 NA18961.hp2 NA18966.hp1 NA18968.hp1 NA18969.hp2 NA18971.hp1 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18980.hp1 NA18982.hp1 NA18988.hp1 NA18991.hp1 NA18994.hp2 NA18999.hp1 NA19000.hp2 NA19001.hp2 NA19004.hp2 NA19009.hp2 NA19030.hp2 NA19043.hp2 NA19054.hp2 NA19057.hp1 NA19058.hp2 NA19085.hp1 NA19090.hp1 NA19240.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0002t0002 a0001c0002t0003 a0001c0004t0002 a0002c0007t0002	a0001c0001t0001g0018 a0001c0001t0001g0084 a0001c0001t0001g0089 others(87): Show a0001c0001t0001g0018 a0001c0001t0001g0084 a0001c0001t0001g0089 a0001c0001t0001g0165 a0001c0001t0001g0169 a0001c0001t0001g0223 a0001c0001t0001g0244 a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0016 a0001c0001t0002g0021 a0001c0001t0002g0027 a0001c0001t0002g0050 a0001c0001t0002g0057 a0001c0001t0002g0061 a0001c0001t0002g0063 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0071 a0001c0001t0002g0091 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0124 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0146 a0001c0001t0002g0149 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0158 a0001c0001t0002g0160 a0001c0001t0002g0167 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0187 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0201 a0001c0001t0002g0203 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0220 a0001c0001t0002g0224 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0234 a0001c0001t0002g0237 a0001c0001t0002g0251 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0270 a0001c0001t0002g0275 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0003g0072 a0001c0001t0003g0083 a0001c0001t0003g0240 a0001c0001t0004g0079 a0001c0001t0005g0119 a0001c0001t0005g0272 a0001c0001t0007g0112 a0001c0001t0007g0113 a0001c0001t0009g0059 a0001c0002t0002g0141 a0001c0002t0003g0043 a0001c0002t0003g0045 a0001c0002t0003g0081 a0001c0002t0003g0153 a0001c0004t0002g0103 a0002c0007t0002g0260	91	296	0.3074	110	c.952 others(127): Show c.952-1267_952-1266insCTGTCCCTCCCTCCCTCCCTCCCTCCCT CCCTCCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTCCCTCCCTCCCTCC CTCTCTTTCTTTGTTTCTCTCTTTCTCTCTCC	RGL1	ENSG00000143344.16	transcript	ENST00000360851.4	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
RGL1_chr1_183800120_183933532	183887206	T T	TCCTGTCC others(103): Show TCCTGTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCT TCCTTCCTTCTTTCCTCCCTCCCTCCCTCCCTCTCTTTCTTTGTTTCTCT CTTTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	296	0.0034	110	c.952 others(127): Show c.952-1267_952-1266insCTGTCCCTCCCTCCCTCCCTCCCTCCCT CCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTCCCTCCCTCCCTCC CTCTCTTTCTTTGTTTCTCTCTTTCTCTCTCC	RGL1	ENSG00000143344.16	transcript	ENST00000360851.4	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
RICTOR_chr5_38932920_39079399	38990692	T T	TGATATAT others(103): Show TGATATATATCAGATATATATATCTGATATATATCATATCTGATATATAT CATATATATGATATATCAGATATATATCAGATATGATATATATCATATAT ATGATATATCA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0022	1	338	0.0030	110	c.583 others(125): Show c.583+256_583+257insTGATATATCATATATATGATATATATCATA TCTGATATATATCTGATATATCATATATATGATATATATCAGATATGATA TATATCAGATATATATATCTGATATATATC	RICTOR	ENSG00000164327.14	transcript	ENST00000357387.8	protein_coding	7/37			chr5	TogoVar

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