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
RBM28_chr7_128292685_128348908	128346636	CTCTCTCT others(15): Show CTCTCTCTCTCTCTCTCTATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	382	0.0026	-22	c.-28 others(33): Show c.-2865_-2844delTATATAGAGAGAGAGAGAGAGA	RBM28	ENSG00000106344.8	transcript	ENST00000223073.6	protein_coding		2729		chr7	TogoVar
RBM28_chr7_128292685_128348908	128346638	CTCTCTCT others(15): Show CTCTCTCTCTCTCTCTATATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp2 HG03130.hp1 HG01993.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0030 a0001c0002t0107 a0001c0001t0030 a0001c0002t0107	a0001c0001t0030g0020 a0001c0002t0107g0125 a0001c0001t0030g0020 a0001c0002t0107g0125	2	382	0.0052	-22	c.-28 others(33): Show c.-2867_-2846delTATATATAGAGAGAGAGAGAGA	RBM28	ENSG00000106344.8	transcript	ENST00000223073.6	protein_coding		2731		chr7	TogoVar
RBM28_chr7_128292685_128348908	128346640	CTCTCTCT others(15): Show CTCTCTCTCTCTCTATATATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19012.hp2 NA19086.hp1 NA19012.hp2 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0001 a0001c0001t0003g0008 a0001c0001t0002g0001 a0001c0001t0003g0008	2	382	0.0052	-22	c.-28 others(33): Show c.-2869_-2848delTATATATATAGAGAGAGAGAGA	RBM28	ENSG00000106344.8	transcript	ENST00000223073.6	protein_coding		2733		chr7	TogoVar
RBM28_chr7_128292685_128348908	128346642	CTCTCTCT others(15): Show CTCTCTCTCTCTATATATATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG01175.hp2 HG02055.hp2 HG00323.hp2 HG01175.hp2 HG02055.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0002 a0001c0001t0030 a0004c0005t0001 a0001c0001t0002 a0001c0001t0030 a0004c0005t0001	a0001c0001t0002g0224 a0001c0001t0030g0020 a0004c0005t0001g0105 a0001c0001t0002g0224 a0001c0001t0030g0020 a0004c0005t0001g0105	3	382	0.0079	-22	c.-28 others(33): Show c.-2871_-2850delTATATATATATAGAGAGAGAGA	RBM28	ENSG00000106344.8	transcript	ENST00000223073.6	protein_coding		2735		chr7	TogoVar
RBM28_chr7_128292685_128348908	128346644	CTCTCTCT others(15): Show CTCTCTCTCTATATATATATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0105 a0001c0001t0105	a0001c0001t0105g0309 a0001c0001t0105g0309	1	382	0.0026	-22	c.-28 others(33): Show c.-2873_-2852delTATATATATATATAGAGAGAGA	RBM28	ENSG00000106344.8	transcript	ENST00000223073.6	protein_coding		2737		chr7	TogoVar
RBM28_chr7_128292685_128348908	128346646	CTCTCTCT others(15): Show CTCTCTCTATATATATATATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG02155.hp2 HG02615.hp2 others(3): Show HG01081.hp2 HG02155.hp2 HG02615.hp2 HG03098.hp1 HG03688.hp1 HG04228.hp2	a0001 a0013 a0001 a0013	a0001c0001 a0013c0016 a0001c0001 a0013c0016	a0001c0001t0001 a0001c0001t0005 a0001c0001t0086 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0086 a0001c0001t0099 a0013c0016t0064	a0001c0001t0001g0103 a0001c0001t0005g0023 a0001c0001t0005g0181 others(3): Show a0001c0001t0001g0103 a0001c0001t0005g0023 a0001c0001t0005g0181 a0001c0001t0086g0159 a0001c0001t0099g0196 a0013c0016t0064g0042	6	382	0.0157	-22	c.-28 others(33): Show c.-2875_-2854delTATATATATATATATAGAGAGA	RBM28	ENSG00000106344.8	transcript	ENST00000223073.6	protein_coding		2739		chr7	TogoVar
RBM28_chr7_128292685_128348908	128346648	CTCTCTAT others(15): Show CTCTCTATATATATATATATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0117 a0001c0001t0117	a0001c0001t0117g0301 a0001c0001t0117g0301	1	382	0.0026	-22	c.-28 others(33): Show c.-2877_-2856delTATATATATATATATATAGAGA	RBM28	ENSG00000106344.8	transcript	ENST00000223073.6	protein_coding		2741		chr7	TogoVar
RBM28_chr7_128292685_128348908	128346650	CTCTATAT others(15): Show CTCTATATATATATATATATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18982.hp1 NA18984.hp1 NA18982.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0025 a0001c0001t0001 a0001c0001t0025	a0001c0001t0001g0002 a0001c0001t0025g0229 a0001c0001t0001g0002 a0001c0001t0025g0229	2	382	0.0052	-22	c.-28 others(33): Show c.-2879_-2858delTATATATATATATATATATAGA	RBM28	ENSG00000106344.8	transcript	ENST00000223073.6	protein_coding		2743		chr7	TogoVar
RBM33_chr7_155639661_155786480	155724990	TTGTGTGT others(15): Show TTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0085 a0001c0003t0085	a0001c0003t0085g0272 a0001c0003t0085g0272	1	306	0.0033	-22	c.126 others(41): Show c.1260+6573_1260+6594delGTGTGTGTGTGTGTGTGTGTGT	RBM33	ENSG00000184863.11	transcript	ENST00000401878.8	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
RBM33_chr7_155639661_155786480	155785671	TTGGCACG others(15): Show TTGGCACGATGTCCTCAAGGTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0110 a0002c0001t0002g0110	1	306	0.0033	-22	c.10 others(35): Show c.10631_*10652delTGGCACGATGTCCTCAAGGTCC	RBM33	ENSG00000184863.11	transcript	ENST00000401878.8	protein_coding		4192		chr7	TogoVar
RBM34_chr1_235126183_235166250	235155822	CATATATA others(15): Show CATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18978.hp1 NA18939.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0044 a0001c0001t0001g0047	2	388	0.0052	-22	c.366 others(37): Show c.366-732_366-711delATATATATATATATATATATAT	RBM34	ENSG00000188739.15	transcript	ENST00000408888.8	protein_coding	3/10			chr1	TogoVar
RBM47_chr4_40418280_40634864	40443717	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02155.hp2 NA18612.hp1 others(2): Show HG00558.hp1 HG02155.hp2 NA18612.hp1 NA18949.hp2 NA18972.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0007 a0001c0004 a0002c0007	a0001c0004t0139 a0002c0007t0002 a0002c0007t0006 others(2): Show a0001c0004t0139 a0002c0007t0002 a0002c0007t0006 a0002c0007t0068 a0002c0007t0093	a0001c0004t0139g0235 a0002c0007t0002g0026 a0002c0007t0006g0017 others(2): Show a0001c0004t0139g0235 a0002c0007t0002g0026 a0002c0007t0006g0017 a0002c0007t0068g0011 a0002c0007t0093g0097	5	278	0.0180	-22	c.-31 others(39): Show c.-31-4815_-31-4794delTTTTTTTTTTTTTTTTTTTTTT	RBM47	ENSG00000163694.15	transcript	ENST00000295971.12	protein_coding	3/6			chr4	TogoVar
RBM47_chr4_40418280_40634864	40559442	TTTCTCCC others(15): Show TTTCTCCCTCAAGCCCCAAAGTC	T T	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0015 a0002c0002t0015	a0002c0002t0015g0216 a0002c0002t0015g0216	1	278	0.0036	-22	c.-23 others(43): Show c.-239-14958_-239-14937delGACTTTGGGGCTTGAGGGAGAA	RBM47	ENSG00000163694.15	transcript	ENST00000295971.12	protein_coding	1/6			chr4	TogoVar
RBM47_chr4_40418280_40634864	40592969	ATATATAT others(15): Show ATATATATATATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0139 a0001c0004t0139	a0001c0004t0139g0235 a0001c0004t0139g0235	1	278	0.0036	-22	c.-24 others(43): Show c.-240+36405_-240+36426delAAAAAAAAAAAATATATATATA	RBM47	ENSG00000163694.15	transcript	ENST00000295971.12	protein_coding	1/6			chr4	TogoVar
RBM7_chr11_114395666_114415607	114402382	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0049 a0001c0001t0002g0049	1	410	0.0024	-22	c.260 others(37): Show c.260-428_260-407delTTTTTTTTTTTTTTTTTTTTTT	RBM7	ENSG00000076053.12	transcript	ENST00000375490.10	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
RBMS3_chr3_29276071_30015386	29295274	TATATATA others(15): Show TATATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0081 a0001c0001t0007g0081	1	116	0.0086	-22	c.75+ others(39): Show c.75+13527_75+13548delATATATATATATACATATATAT	RBMS3	ENSG00000144642.22	transcript	ENST00000383767.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
RBMS3_chr3_29276071_30015386	29295283	ATATATAT others(15): Show ATATATATATATACATATATATC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(49): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00408.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp2 HG01071.hp2 HG01106.hp1 HG01106.hp2 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01515.hp1 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01928.hp1 HG01934.hp1 HG01993.hp1 HG02040.hp1 HG02055.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02896.hp1 HG03017.hp1 HG03041.hp2 HG03130.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp2 HG03540.hp1 HG03540.hp2 HG03710.hp1 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18944.hp2 NA18957.hp1 NA18994.hp1 NA19240.hp1 NA19240.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0005	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(40): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0001t0025 a0001c0001t0028 a0001c0001t0037 a0001c0001t0038 a0001c0001t0040 a0001c0001t0042 a0001c0001t0043 a0001c0001t0057 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071 a0001c0001t0074 a0001c0001t0077 a0001c0001t0078 a0001c0002t0004 a0001c0002t0006 a0001c0002t0010 a0001c0002t0031 a0001c0002t0047 a0001c0002t0084 a0001c0002t0086 a0001c0004t0059 a0002c0005t0055	a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0058 others(49): Show a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0058 a0001c0001t0003g0027 a0001c0001t0003g0066 a0001c0001t0003g0089 a0001c0001t0004g0099 a0001c0001t0004g0100 a0001c0001t0006g0053 a0001c0001t0007g0071 a0001c0001t0010g0097 a0001c0001t0011g0035 a0001c0001t0011g0037 a0001c0001t0012g0036 a0001c0001t0014g0074 a0001c0001t0014g0078 a0001c0001t0015g0051 a0001c0001t0016g0076 a0001c0001t0017g0077 a0001c0001t0019g0055 a0001c0001t0019g0056 a0001c0001t0020g0110 a0001c0001t0020g0112 a0001c0001t0021g0034 a0001c0001t0023g0054 a0001c0001t0025g0010 a0001c0001t0028g0040 a0001c0001t0037g0103 a0001c0001t0038g0094 a0001c0001t0040g0102 a0001c0001t0042g0096 a0001c0001t0043g0101 a0001c0001t0057g0046 a0001c0001t0065g0052 a0001c0001t0066g0098 a0001c0001t0067g0106 a0001c0001t0068g0109 a0001c0001t0069g0001 a0001c0001t0070g0075 a0001c0001t0071g0080 a0001c0001t0074g0031 a0001c0001t0077g0057 a0001c0001t0078g0067 a0001c0002t0004g0092 a0001c0002t0006g0065 a0001c0002t0010g0095 a0001c0002t0031g0039 a0001c0002t0047g0038 a0001c0002t0084g0018 a0001c0002t0086g0068 a0001c0004t0059g0028 a0002c0005t0055g0086	52	116	0.4483	-22	c.75+ others(39): Show c.75+13538_75+13559delTACATATATATCTATATATATA	RBMS3	ENSG00000144642.22	transcript	ENST00000383767.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
RBMS3_chr3_29276071_30015386	29532240	ATATATGT others(15): Show ATATATGTATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03130.hp2 HG03579.hp2 HG02965.hp1 HG03130.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0017 a0001c0001t0045 a0001c0001t0002 a0001c0001t0017 a0001c0001t0045	a0001c0001t0002g0030 a0001c0001t0017g0082 a0001c0001t0045g0013 a0001c0001t0002g0030 a0001c0001t0017g0082 a0001c0001t0045g0013	3	116	0.0259	-22	c.307 others(41): Show c.307+43747_307+43768delGTATATATATATATATGTATAT	RBMS3	ENSG00000144642.22	transcript	ENST00000383767.7	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
RBMS3_chr3_29276071_30015386	29559510	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01071.hp1 HG01361.hp1 others(20): Show HG00408.hp1 HG01071.hp1 HG01361.hp1 HG02040.hp1 HG02083.hp1 HG02258.hp2 HG02630.hp2 HG02895.hp1 HG02895.hp2 HG02976.hp1 HG03017.hp1 HG03225.hp2 HG03831.hp1 HG03834.hp1 HG04228.hp2 NA18944.hp1 NA18944.hp2 NA18957.hp1 NA18982.hp2 NA18994.hp2 NA19009.hp1 NA19240.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0015 a0001c0001t0017 a0001c0001t0022 a0001c0002t0001 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0010 a0001c0002t0018 a0001c0002t0031 a0001c0002t0034 a0001c0002t0039 a0001c0002t0041 a0001c0002t0046 a0001c0002t0047 a0001c0002t0050 a0001c0002t0053 a0001c0002t0081 a0001c0002t0084	a0001c0001t0001g0042 a0001c0001t0002g0050 a0001c0001t0003g0089 others(20): Show a0001c0001t0001g0042 a0001c0001t0002g0050 a0001c0001t0003g0089 a0001c0001t0015g0029 a0001c0001t0017g0077 a0001c0001t0022g0093 a0001c0002t0001g0016 a0001c0002t0001g0044 a0001c0002t0004g0092 a0001c0002t0005g0007 a0001c0002t0006g0065 a0001c0002t0010g0095 a0001c0002t0018g0059 a0001c0002t0031g0039 a0001c0002t0034g0114 a0001c0002t0039g0091 a0001c0002t0041g0104 a0001c0002t0046g0107 a0001c0002t0047g0038 a0001c0002t0050g0025 a0001c0002t0053g0011 a0001c0002t0081g0017 a0001c0002t0084g0018	23	116	0.1983	-22	c.308 others(41): Show c.308-27582_308-27561delAAAAAAAAAAAAAAAAAAAAAA	RBMS3	ENSG00000144642.22	transcript	ENST00000383767.7	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
RBPJ_chr4_26316014_26439923	26316651	TATTGATA others(15): Show TATTGATATATATATATATACAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp2 HG02886.hp2 NA18906.hp2 HG01261.hp2 HG02886.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0305 a0001c0001t0001g0004 a0001c0001t0001g0305	3	316	0.0095	-22	c.-43 others(33): Show c.-4377_-4356delATTGATATATATATATATACAC	RBPJ	ENSG00000168214.22	transcript	ENST00000355476.8	protein_coding		4362		chr4	TogoVar
RBPMS2_chr15_64734891_64780589	64778020	TGCTGAGA others(15): Show TGCTGAGATTACAGGCGTGAGCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	252	0.0040	-22	c.-27 others(33): Show c.-2723_-2702delGGCTCACGCCTGTAATCTCAGC	RBPMS2	ENSG00000166831.9	transcript	ENST00000300069.5	protein_coding		2432		chr15	TogoVar
RBPMS_chr8_30379541_30577256	30421150	GGTGTGTG others(15): Show GGTGTGTGTGTGTGTGAGAGAGA	G G	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02572.hp2 HG00741.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0295 a0001c0001t0005g0296 a0001c0001t0005g0295 a0001c0001t0005g0296	2	304	0.0066	-22	c.66+ others(39): Show c.66+36006_66+36027delTGAGAGAGAGTGTGTGTGTGTG	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RBPMS_chr8_30379541_30577256	30518687	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	304	0.0033	-22	c.397 others(41): Show c.397+14258_397+14279delTTTTTTTTTTTTTTTTTTTTTT	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RBPMS_chr8_30379541_30577256	30519458	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp2 HG00544.hp1 others(72): Show HG00280.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00621.hp2 HG00673.hp2 HG00735.hp1 HG00738.hp2 HG01099.hp1 HG01123.hp2 HG01175.hp2 HG01243.hp1 HG01258.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01517.hp2 HG01884.hp1 HG01981.hp1 HG01993.hp2 HG02004.hp2 HG02040.hp2 HG02080.hp2 HG02165.hp2 HG02273.hp1 HG02559.hp1 HG02738.hp2 HG02976.hp2 HG03471.hp1 HG03490.hp2 HG03540.hp1 HG03704.hp2 HG03710.hp2 HG03834.hp1 HG04184.hp2 HG04204.hp1 NA18747.hp1 NA18943.hp2 NA18944.hp2 NA18947.hp2 NA18949.hp1 NA18950.hp1 NA18955.hp2 NA18957.hp2 NA18961.hp1 NA18965.hp1 NA18966.hp1 NA18968.hp2 NA18977.hp2 NA18979.hp1 NA18981.hp2 NA18984.hp2 NA18986.hp1 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18999.hp2 NA19003.hp2 NA19005.hp2 NA19007.hp1 NA19009.hp1 NA19010.hp2 NA19012.hp1 NA19054.hp1 NA19058.hp2 NA19063.hp1 NA19067.hp2 NA19070.hp2 NA19084.hp2 NA19086.hp2 NA19088.hp1 NA19091.hp2 NA20905.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0020 a0003c0003t0002	a0001c0001t0001g0016 a0001c0001t0001g0031 a0001c0001t0001g0032 others(72): Show a0001c0001t0001g0016 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0043 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0001t0001g0160 a0001c0001t0001g0174 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0183 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0206 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0275 a0001c0001t0001g0290 a0001c0001t0002g0039 a0001c0001t0002g0063 a0001c0001t0002g0068 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0087 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0110 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0129 a0001c0001t0002g0282 a0001c0001t0002g0284 a0001c0001t0002g0286 a0001c0001t0002g0289 a0001c0001t0005g0093 a0001c0001t0011g0088 a0001c0001t0014g0132 a0001c0001t0015g0131 a0001c0001t0016g0204 a0001c0001t0018g0003 a0001c0001t0020g0156 a0003c0003t0002g0124	75	304	0.2467	-22	c.397 others(41): Show c.397+15043_397+15064delTTTTTTTTTTTTTTTTTTTTTT	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RBSN_chr3_15065073_15104148	15078779	CATATATA others(15): Show CATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0193 a0001c0001t0002g0193	1	360	0.0028	-22	c.912 others(37): Show c.912-640_912-619delATATATATATATATATATATAT	RBSN	ENSG00000131381.12	transcript	ENST00000253699.7	protein_coding	10/13			chr3	TogoVar
RC3H2_chr9_122839556_122910359	122868839	ATGTGTGT others(15): Show ATGTGTGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01175.hp1 others(8): Show HG01070.hp2 HG01071.hp1 HG01175.hp1 HG01256.hp2 HG02027.hp1 HG02055.hp2 HG03516.hp1 HG03831.hp2 HG04199.hp2 NA18949.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0208 a0001c0001t0001g0228 a0001c0001t0001g0230 others(8): Show a0001c0001t0001g0208 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0243 a0001c0001t0001g0266 a0001c0001t0003g0148 a0001c0001t0003g0209 a0001c0001t0003g0253 a0001c0001t0003g0291 a0001c0001t0003g0292 a0001c0001t0003g0302	11	320	0.0344	-22	c.132 others(41): Show c.1326-3204_1326-3183delCACACACACACACACACACACA	RC3H2	ENSG00000056586.16	transcript	ENST00000357244.7	protein_coding	9/20			chr9	TogoVar
RCAN2_chr6_46215736_46496449	46296083	GTGTGTGT others(15): Show GTGTGTGTGTGTGTGTGTGTGTC	G G	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0038 a0001c0001t0002g0038	1	158	0.0063	-22	c.226 others(41): Show c.226-47209_226-47188delGACACACACACACACACACACA	RCAN2	ENSG00000172348.16	transcript	ENST00000371374.6	protein_coding	2/4			chr6	TogoVar
RCBTB2_chr13_48483963_48538080	48525373	GATATATA others(15): Show GATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01975.hp2 HG02630.hp1 others(2): Show HG01109.hp2 HG01975.hp2 HG02630.hp1 NA19030.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0006 a0001c0001 a0002c0006	a0001c0001t0009 a0002c0006t0001 a0001c0001t0009 a0002c0006t0001	a0001c0001t0009g0071 a0002c0006t0001g0298 a0002c0006t0001g0299 others(2): Show a0001c0001t0009g0071 a0002c0006t0001g0298 a0002c0006t0001g0299 a0002c0006t0001g0300 a0002c0006t0001g0301	5	320	0.0156	-22	c.-21 others(39): Show c.-218-638_-218-617delATATATATATATATATATATAT	RCBTB2	ENSG00000136161.13	transcript	ENST00000344532.8	protein_coding	1/14			chr13	TogoVar
RCC1L_chr7_75037183_75078802	75077424	ACTCCTGA others(15): Show ACTCCTGACCTCAGGTGATCCAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(136): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp1 HG00733.hp1 HG00733.hp2 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01081.hp1 HG01099.hp1 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01175.hp2 HG01192.hp1 HG01255.hp1 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01934.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02155.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp2 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02615.hp1 HG02615.hp2 HG02647.hp2 HG02683.hp1 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp2 HG03017.hp2 HG03098.hp2 HG03139.hp2 HG03209.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18945.hp1 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18960.hp1 NA18962.hp2 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18995.hp2 NA19007.hp1 NA19010.hp1 NA19010.hp2 NA19056.hp2 NA19064.hp2 NA19077.hp1 NA19077.hp2 NA19082.hp2 NA19083.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0006 a0007 a0008	a0001c0001 a0002c0002 a0003c0003 others(3): Show a0001c0001 a0002c0002 a0003c0003 a0006c0007 a0007c0006 a0008c0009	a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 others(6): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0003c0003t0002 a0006c0007t0002 a0007c0006t0002 a0008c0009t0002	a0001c0001t0001g0017 a0001c0001t0001g0150 a0001c0001t0001g0163 others(119): Show a0001c0001t0001g0017 a0001c0001t0001g0150 a0001c0001t0001g0163 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0207 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0193 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0206 a0002c0002t0002g0002 a0002c0002t0002g0005 a0002c0002t0002g0006 a0002c0002t0002g0010 a0002c0002t0002g0011 a0002c0002t0002g0012 a0002c0002t0002g0013 a0002c0002t0002g0014 a0002c0002t0002g0024 a0002c0002t0002g0025 a0002c0002t0002g0026 a0002c0002t0002g0027 a0002c0002t0002g0029 a0002c0002t0002g0030 a0002c0002t0002g0032 a0002c0002t0002g0033 a0002c0002t0002g0034 a0002c0002t0002g0035 a0002c0002t0002g0036 a0002c0002t0002g0037 a0002c0002t0002g0038 a0002c0002t0002g0039 a0002c0002t0002g0040 a0002c0002t0002g0041 a0002c0002t0002g0042 a0002c0002t0002g0043 a0002c0002t0002g0044 a0002c0002t0002g0045 a0002c0002t0002g0046 a0002c0002t0002g0047 a0002c0002t0002g0048 a0002c0002t0002g0049 a0002c0002t0002g0051 a0002c0002t0002g0052 a0002c0002t0002g0053 a0002c0002t0002g0054 a0002c0002t0002g0055 a0002c0002t0002g0056 a0002c0002t0002g0057 a0002c0002t0002g0058 a0002c0002t0002g0059 a0002c0002t0002g0060 a0002c0002t0002g0062 a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0066 a0002c0002t0002g0067 a0002c0002t0002g0068 a0002c0002t0002g0069 a0002c0002t0002g0070 a0002c0002t0002g0071 a0002c0002t0002g0072 a0002c0002t0002g0073 a0002c0002t0002g0074 a0002c0002t0002g0075 a0002c0002t0002g0077 a0002c0002t0002g0078 a0002c0002t0002g0079 a0002c0002t0002g0080 a0002c0002t0002g0081 a0002c0002t0002g0082 a0002c0002t0002g0083 a0002c0002t0002g0084 a0002c0002t0002g0085 a0002c0002t0002g0086 a0002c0002t0002g0087 a0002c0002t0002g0088 a0002c0002t0002g0089 a0002c0002t0002g0090 a0002c0002t0002g0091 a0002c0002t0002g0092 a0002c0002t0002g0094 a0002c0002t0002g0095 a0002c0002t0002g0096 a0002c0002t0002g0097 a0002c0002t0002g0098 a0002c0002t0002g0099 a0002c0002t0002g0100 a0002c0002t0002g0101 a0002c0002t0002g0102 a0002c0002t0002g0103 a0002c0002t0002g0104 a0002c0002t0002g0105 a0002c0002t0002g0106 a0002c0002t0002g0107 a0002c0002t0002g0109 a0002c0002t0002g0110 a0002c0002t0002g0111 a0002c0002t0003g0031 a0002c0002t0003g0061 a0002c0002t0004g0108 a0003c0003t0002g0028 a0003c0003t0002g0063 a0003c0003t0002g0076 a0006c0007t0002g0050 a0007c0006t0002g0093 a0008c0009t0002g0225	139	270	0.5148	-22	c.-37 others(33): Show c.-3709_-3688delGTGGATCACCTGAGGTCAGGAG	RCC1L	ENSG00000274523.5	transcript	ENST00000610322.5	protein_coding		3623		chr7	TogoVar
RCC1_chr1_28501043_28543989	28533845	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02559.hp1 HG02818.hp1 others(3): Show HG02055.hp1 HG02559.hp1 HG02818.hp1 HG03130.hp1 NA18906.hp2 NA19030.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0247 a0001c0003t0002g0249 a0001c0003t0002g0254 others(3): Show a0001c0003t0002g0247 a0001c0003t0002g0249 a0001c0003t0002g0254 a0001c0003t0002g0256 a0001c0003t0002g0270 a0001c0003t0002g0274	6	294	0.0204	-22	c.442 others(39): Show c.442-1176_442-1155delTTTTTTTTTTTTTTTTTTTTTT	RCC1	ENSG00000180198.17	transcript	ENST00000683442.1	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
RCN2_chr15_76926749_76959393	76953575	ATATATAT others(15): Show ATATATATATATATATATATTTT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0172 a0001c0001t0172	a0001c0001t0172g0159 a0001c0001t0172g0159	1	422	0.0024	-22	c.43 others(33): Show c.4355_*4376delATATATATATATATATATTTTT	RCN2	ENSG00000117906.14	transcript	ENST00000394885.8	protein_coding	7/7	4355	INFO_REALIGN_3_PRIME	chr15	TogoVar
RCOR1_chr14_102587649_102735561	102653961	TTCTTTCT others(15): Show TTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02004.hp1 NA18945.hp1 HG02004.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0172 a0001c0001t0002g0181 a0001c0001t0002g0172 a0001c0001t0002g0181	2	292	0.0069	-22	c.362 others(41): Show c.362-27932_362-27911delCTTTCTTTCTTTCTTTCTTTCT	RCOR1	ENSG00000089902.10	transcript	ENST00000262241.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
RDH10_chr8_73289602_73330281	73325952	GGTGTGTG others(15): Show GGTGTGTGTGTGTGTGTGTGTGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00408.hp2 others(86): Show HG00099.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00558.hp2 HG00597.hp2 HG00621.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp2 HG00741.hp2 HG01074.hp1 HG01109.hp2 HG01123.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01256.hp2 HG01358.hp1 HG01361.hp1 HG01516.hp2 HG01517.hp1 HG01928.hp1 HG01934.hp2 HG01943.hp1 HG01981.hp2 HG02040.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02165.hp1 HG02293.hp1 HG02293.hp2 HG02602.hp2 HG02622.hp2 HG02723.hp1 HG02738.hp1 HG02738.hp2 HG03239.hp2 HG03490.hp2 HG03491.hp1 HG03704.hp1 NA18945.hp1 NA18950.hp1 NA18952.hp1 NA18954.hp2 NA18955.hp2 NA18956.hp1 NA18959.hp2 NA18962.hp1 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18975.hp1 NA18980.hp2 NA18983.hp1 NA18984.hp1 NA18989.hp2 NA18990.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18997.hp1 NA19002.hp2 NA19006.hp1 NA19007.hp1 NA19011.hp2 NA19055.hp2 NA19056.hp2 NA19057.hp2 NA19064.hp2 NA19067.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp2 NA19082.hp1 NA19083.hp1 NA19083.hp2 NA19090.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0013 a0001c0001t0021 a0001c0001t0025 a0001c0001t0028	a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0010 others(60): Show a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0066 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0166 a0001c0001t0001g0173 a0001c0001t0001g0188 a0001c0001t0001g0237 a0001c0001t0002g0003 a0001c0001t0002g0010 a0001c0001t0002g0083 a0001c0001t0002g0110 a0001c0001t0003g0036 a0001c0001t0003g0116 a0001c0001t0003g0151 a0001c0001t0003g0153 a0001c0001t0005g0005 a0001c0001t0005g0164 a0001c0001t0005g0167 a0001c0001t0005g0168 a0001c0001t0013g0033 a0001c0001t0013g0091 a0001c0001t0021g0160 a0001c0001t0025g0105 a0001c0001t0028g0005	89	396	0.2248	-22	c.29 others(33): Show c.2917_*2938delGTGTGTGTGTGTGTGTGTGTGT	RDH10	ENSG00000121039.10	transcript	ENST00000240285.10	protein_coding		672		chr8	TogoVar
RDH13_chr19_55039316_55068148	55066444	CCTCTCTC others(15): Show CCTCTCTCTCCCTCTCTCTTCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG01069.hp1 HG01069.hp2 others(25): Show HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01255.hp1 HG01346.hp2 HG01361.hp1 HG01515.hp1 HG01517.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02273.hp2 HG02300.hp1 HG02300.hp2 HG03239.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03704.hp2 HG06807.hp1 NA18993.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0002c0003	a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 others(9): Show a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0031 a0001c0001t0033 a0001c0002t0001 a0001c0002t0003 a0001c0004t0007 a0001c0005t0004 a0002c0003t0002 a0002c0003t0010	a0001c0001t0005g0037 a0001c0001t0005g0041 a0001c0001t0006g0002 others(22): Show a0001c0001t0005g0037 a0001c0001t0005g0041 a0001c0001t0006g0002 a0001c0001t0006g0021 a0001c0001t0006g0160 a0001c0001t0006g0164 a0001c0001t0006g0169 a0001c0001t0006g0171 a0001c0001t0008g0129 a0001c0001t0008g0141 a0001c0001t0009g0184 a0001c0001t0009g0185 a0001c0001t0031g0154 a0001c0001t0033g0173 a0001c0002t0001g0010 a0001c0002t0001g0029 a0001c0002t0001g0265 a0001c0002t0001g0269 a0001c0002t0003g0208 a0001c0004t0007g0005 a0001c0005t0004g0025 a0001c0005t0004g0231 a0001c0005t0004g0232 a0002c0003t0002g0004 a0002c0003t0010g0298	28	377	0.0743	-22	c.-34 others(33): Show c.-3434_-3413delAGGAAGAGAGAGGGAGAGAGAG	RDH13	ENSG00000160439.16	transcript	ENST00000415061.8	protein_coding		3297		chr19	TogoVar
RECK_chr9_36031913_36129455	36104310	ATATATAT others(15): Show ATATATATATATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0003 a0003c0006t0003	a0003c0006t0003g0389 a0003c0006t0003g0389	1	392	0.0026	-22	c.143 others(39): Show c.1436-831_1436-810delATATATATATATATATTTTTTT	RECK	ENSG00000122707.12	transcript	ENST00000377966.4	protein_coding	12/20		INFO_REALIGN_3_PRIME	chr9	TogoVar
REEP3_chr10_63516401_63630128	63556614	GTTTTTTT others(15): Show GTTTTTTTTTTTGTTGTTTTGTT	G G	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03098.hp2 HG02622.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0013 a0001c0001t0009g0014 a0001c0001t0001g0013 a0001c0001t0009g0014	2	284	0.0070	-22	c.33- others(37): Show c.33-9712_33-9691delGTTGTTTTGTTTTTTTTTTTTT	REEP3	ENSG00000165476.14	transcript	ENST00000373758.5	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
REEP5_chr5_112871385_112927227	112897350	ATCACACA others(15): Show ATCACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0202 a0001c0001t0002g0202	1	340	0.0029	-22	c.351 others(39): Show c.351+5008_351+5029delGTGTGTGTGTGTGTGTGTGTGA	REEP5	ENSG00000129625.13	transcript	ENST00000379638.9	protein_coding	3/4			chr5	TogoVar
REG1A_chr2_79115488_79128409	79119187	GATATATA others(15): Show GATATATATATATATATATATAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00673.hp1 HG01358.hp1 others(24): Show HG00099.hp1 HG00673.hp1 HG01358.hp1 HG01358.hp2 HG01934.hp1 HG01981.hp1 HG01981.hp2 HG02040.hp2 HG02135.hp2 HG02258.hp1 HG02647.hp1 HG03098.hp1 HG03209.hp1 HG03239.hp1 HG03486.hp1 HG03486.hp2 HG03579.hp1 NA18940.hp2 NA18949.hp2 NA18960.hp2 NA18985.hp1 NA18987.hp2 NA19055.hp2 NA19058.hp2 NA19087.hp1 NA20300.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0013 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0002g0002 a0001c0001t0002g0008 a0001c0001t0002g0010	27	452	0.0597	-22	c.-13 others(33): Show c.-1373_-1352delATATATATATATATATATATAT	REG1A	ENSG00000115386.6	transcript	ENST00000233735.2	protein_coding		1300		chr2	TogoVar
RELCH_chr18_62182255_62315249	62253267	TTGTGTGT others(15): Show TTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp2 HG00673.hp2 others(9): Show HG00408.hp1 HG00438.hp2 HG00673.hp2 HG01496.hp2 HG02040.hp1 HG02056.hp2 HG03831.hp1 HG04184.hp1 NA18990.hp2 NA18999.hp1 NA19084.hp1 NA19240.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0011 a0001c0004t0015 a0001c0004t0039 others(2): Show a0001c0004t0011 a0001c0004t0015 a0001c0004t0039 a0001c0004t0040 a0001c0004t0043	a0001c0004t0011g0037 a0001c0004t0011g0038 a0001c0004t0011g0039 others(9): Show a0001c0004t0011g0037 a0001c0004t0011g0038 a0001c0004t0011g0039 a0001c0004t0011g0041 a0001c0004t0011g0043 a0001c0004t0011g0045 a0001c0004t0015g0011 a0001c0004t0015g0040 a0001c0004t0015g0044 a0001c0004t0039g0035 a0001c0004t0040g0036 a0001c0004t0043g0042	12	340	0.0353	-22	c.182 others(39): Show c.1824+537_1824+558delGTGTGTGTGTGTGTGTGTGTGT	RELCH	ENSG00000134444.15	transcript	ENST00000644646.2	protein_coding	12/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
RELN_chr7_103466789_103994658	103491852	TCTCTCAC others(15): Show TCTCTCACACACACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0114 a0001c0008t0001g0114	1	184	0.0054	-22	c.944 others(38): Show c.9443+79_9443+100delTGTGTGTGTGTGTGTGTGAGAG	RELN	ENSG00000189056.15	transcript	ENST00000428762.6	protein_coding	58/64			chr7	TogoVar
RELN_chr7_103466789_103994658	103491854	TCTCACAC others(15): Show TCTCACACACACACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01192.hp1 HG02165.hp2 others(7): Show HG00738.hp1 HG01192.hp1 HG02165.hp2 HG02258.hp2 HG02293.hp1 HG02735.hp1 NA18952.hp2 NA19009.hp2 NA19080.hp1 NA19088.hp2	a0001 a0002 a0010 others(2): Show a0001 a0002 a0010 a0021 a0033	a0001c0008 a0001c0024 a0001c0065 others(4): Show a0001c0008 a0001c0024 a0001c0065 a0002c0009 a0010c0061 a0021c0056 a0033c0059	a0001c0008t0001 a0001c0008t0004 a0001c0024t0001 others(5): Show a0001c0008t0001 a0001c0008t0004 a0001c0024t0001 a0001c0065t0002 a0002c0009t0001 a0010c0061t0001 a0021c0056t0001 a0033c0059t0001	a0001c0008t0001g0138 a0001c0008t0004g0159 a0001c0024t0001g0134 others(7): Show a0001c0008t0001g0138 a0001c0008t0004g0159 a0001c0024t0001g0134 a0001c0065t0002g0025 a0002c0009t0001g0056 a0002c0009t0001g0057 a0002c0009t0001g0131 a0010c0061t0001g0063 a0021c0056t0001g0036 a0033c0059t0001g0060	10	184	0.0544	-22	c.944 others(37): Show c.9443+77_9443+98delTGTGTGTGTGTGTGTGTGTGAG	RELN	ENSG00000189056.15	transcript	ENST00000428762.6	protein_coding	58/64			chr7	TogoVar
RELN_chr7_103466789_103994658	103924985	TACACATA others(15): Show TACACATACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02258.hp1 HG02630.hp2 others(5): Show HG01891.hp1 HG02258.hp1 HG02630.hp2 HG02723.hp1 HG02895.hp1 HG02897.hp2 HG06807.hp1 NA21309.hp2	a0001 a0004 a0005 others(1): Show a0001 a0004 a0005 a0009	a0001c0001 a0001c0005 a0001c0025 others(5): Show a0001c0001 a0001c0005 a0001c0025 a0001c0027 a0001c0048 a0004c0062 a0005c0078 a0009c0055	a0001c0001t0004 a0001c0005t0007 a0001c0025t0001 others(5): Show a0001c0001t0004 a0001c0005t0007 a0001c0025t0001 a0001c0027t0002 a0001c0048t0010 a0004c0062t0002 a0005c0078t0001 a0009c0055t0002	a0001c0001t0004g0160 a0001c0005t0007g0109 a0001c0025t0001g0058 others(5): Show a0001c0001t0004g0160 a0001c0005t0007g0109 a0001c0025t0001g0058 a0001c0027t0002g0016 a0001c0048t0010g0178 a0004c0062t0002g0004 a0005c0078t0001g0157 a0009c0055t0002g0020	8	184	0.0435	-22	c.227 others(39): Show c.227-7822_227-7801delGTGTGTGTGTGTGTGTATGTGT	RELN	ENSG00000189056.15	transcript	ENST00000428762.6	protein_coding	1/64			chr7	TogoVar
RELN_chr7_103466789_103994658	103924991	TACACACA others(15): Show TACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02896.hp1 HG02970.hp1 others(1): Show HG02723.hp2 HG02896.hp1 HG02970.hp1 HG03041.hp2	a0001 a0013 a0015 others(1): Show a0001 a0013 a0015 a0030	a0001c0001 a0013c0080 a0015c0076 others(1): Show a0001c0001 a0013c0080 a0015c0076 a0030c0035	a0001c0001t0013 a0013c0080t0014 a0015c0076t0015 others(1): Show a0001c0001t0013 a0013c0080t0014 a0015c0076t0015 a0030c0035t0006	a0001c0001t0013g0164 a0013c0080t0014g0152 a0015c0076t0015g0150 others(1): Show a0001c0001t0013g0164 a0013c0080t0014g0152 a0015c0076t0015g0150 a0030c0035t0006g0107	4	184	0.0217	-22	c.227 others(39): Show c.227-7828_227-7807delGTGTGTGTGTGTGTGTGTGTGT	RELN	ENSG00000189056.15	transcript	ENST00000428762.6	protein_coding	1/64			chr7	TogoVar
REM1_chr20_31470288_31489895	31486392	CGAGAGAG others(15): Show CGAGAGAGAGAGAGACAGAGAGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG02523.hp1 HG03139.hp2 HG01192.hp2 HG02523.hp1 HG03139.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0011 a0002c0002t0001g0042 a0002c0002t0001g0045 a0002c0002t0001g0011 a0002c0002t0001g0042 a0002c0002t0001g0045	3	344	0.0087	-22	c.19 others(33): Show c.1963_*1984delGAGAGAGAGAGAGACAGAGAGA	REM1	ENSG00000088320.4	transcript	ENST00000201979.3	protein_coding		1498		chr20	TogoVar
REPS2_chrX_16941658_17158272	16951539	ACACACAC others(15): Show ACACACACACACACACACACACC	A A	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02717.hp1 HG03486.hp1 HG02293.hp1 HG02717.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0028 a0001c0001t0006 a0001c0001t0028	a0001c0001t0006g0133 a0001c0001t0006g0134 a0001c0001t0028g0135 a0001c0001t0006g0133 a0001c0001t0006g0134 a0001c0001t0028g0135	3	166	0.0181	-22	c.273 others(39): Show c.273+4407_273+4428delACACACACACACACACACACCC	REPS2	ENSG00000169891.18	transcript	ENST00000357277.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
REPS2_chrX_16941658_17158272	17011057	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp1 HG00438.hp2 others(142): Show HG00280.hp1 HG00438.hp1 HG00438.hp2 HG00609.hp1 HG00621.hp1 HG00642.hp1 HG00673.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG01069.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01109.hp1 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01358.hp1 HG01433.hp1 HG01515.hp1 HG01517.hp1 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02083.hp1 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02257.hp2 HG02293.hp2 HG02300.hp2 HG02486.hp1 HG02572.hp1 HG02602.hp1 HG02647.hp1 HG02698.hp1 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02922.hp1 HG02965.hp1 HG03017.hp1 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03579.hp1 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04199.hp1 HG04204.hp1 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18952.hp1 NA18955.hp1 NA18959.hp1 NA18960.hp1 NA18962.hp1 NA18965.hp1 NA18967.hp1 NA18971.hp1 NA18974.hp1 NA18977.hp1 NA18982.hp1 NA18983.hp1 NA18989.hp1 NA18990.hp1 NA18994.hp1 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19005.hp1 NA19006.hp1 NA19007.hp1 NA19009.hp1 NA19012.hp1 NA19030.hp1 NA19043.hp1 NA19056.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19066.hp1 NA19068.hp1 NA19070.hp1 NA19072.hp1 NA19076.hp1 NA19085.hp1 NA19088.hp1 NA19089.hp1 NA19091.hp1 NA20752.hp1 NA20805.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0005 a0006 a0007 a0008	a0001c0001 a0001c0003 a0001c0010 others(6): Show a0001c0001 a0001c0003 a0001c0010 a0002c0009 a0003c0008 a0005c0005 a0006c0006 a0007c0007 a0008c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0003t0001 a0001c0010t0001 a0002c0009t0001 a0003c0008t0001 a0005c0005t0024 a0006c0006t0005 a0007c0007t0001 a0008c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0018 others(142): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0107 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0002g0003 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0022 a0001c0001t0002g0039 a0001c0001t0002g0049 a0001c0001t0002g0097 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0119 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0137 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0004g0035 a0001c0001t0004g0044 a0001c0001t0004g0074 a0001c0001t0004g0075 a0001c0001t0004g0084 a0001c0001t0004g0085 a0001c0001t0004g0092 a0001c0001t0004g0100 a0001c0001t0004g0114 a0001c0001t0005g0029 a0001c0001t0005g0033 a0001c0001t0005g0036 a0001c0001t0005g0048 a0001c0001t0005g0050 a0001c0001t0005g0051 a0001c0001t0005g0086 a0001c0001t0005g0138 a0001c0001t0007g0109 a0001c0001t0007g0118 a0001c0001t0008g0021 a0001c0001t0008g0046 a0001c0001t0011g0124 a0001c0001t0012g0120 a0001c0001t0013g0030 a0001c0001t0018g0057 a0001c0001t0019g0101 a0001c0001t0020g0045 a0001c0001t0021g0151 a0001c0001t0022g0098 a0001c0001t0023g0026 a0001c0001t0025g0024 a0001c0001t0026g0108 a0001c0001t0027g0115 a0001c0003t0001g0055 a0001c0010t0001g0027 a0002c0009t0001g0063 a0003c0008t0001g0090 a0005c0005t0024g0148 a0006c0006t0005g0032 a0007c0007t0001g0060 a0008c0002t0001g0038	145	166	0.8735	-22	c.397 others(39): Show c.397+4735_397+4756delGTGTGTGTGTGTGTGTGTGTGT	REPS2	ENSG00000169891.18	transcript	ENST00000357277.8	protein_coding	2/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
RERE_chr1_8347404_8822640	8401038	CATATATA others(15): Show CATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0027 a0001c0004t0027	a0001c0004t0027g0106 a0001c0004t0027g0106	1	204	0.0049	-22	c.128 others(43): Show c.1284+21667_1284+21688delATATATATATATATATATATAT	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	12/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8502088	GCCTCTGC others(15): Show GCCTCTGCCCGGCTGCCCCTACT	G G	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	204	0.0049	-22	c.880 others(39): Show c.880-4581_880-4560delAGTAGGGGCAGCCGGGCAGAGG	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	8/22			chr1	TogoVar
RERG_chr12_15102783_15226417	15106111	TTTCTTTT others(15): Show TTTCTTTTTCTTTCTTGTTTTTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02717.hp1 HG02896.hp1 others(3): Show HG02258.hp2 HG02717.hp1 HG02896.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 others(3): Show a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0130 a0001c0001t0001g0159	6	300	0.0200	-22	c.29 others(33): Show c.2977_*2998delGAAAAACAAGAAAGAAAAAGAA	RERG	ENSG00000134533.6	transcript	ENST00000256953.6	protein_coding		1671		chr12	TogoVar
RERG_chr12_15102783_15226417	15148847	GTTTTTTT others(15): Show GTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	300	0.0033	-22	c.62- others(39): Show c.62-27750_62-27729delAAAAAAAAAAAAAAAAAAAAAA	RERG	ENSG00000134533.6	transcript	ENST00000256953.6	protein_coding	2/4			chr12	TogoVar

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