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
RBM47_chr4_40418280_40634864	40437090	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03139.hp1 NA19240.hp1 HG02257.hp1 HG03139.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0011 a0001c0001 a0001c0004 a0001c0011	a0001c0001t0070 a0001c0004t0003 a0001c0011t0003 a0001c0001t0070 a0001c0004t0003 a0001c0011t0003	a0001c0001t0070g0099 a0001c0004t0003g0086 a0001c0011t0003g0126 a0001c0001t0070g0099 a0001c0004t0003g0086 a0001c0011t0003g0126	3	278	0.0108	19	c.112 others(36): Show c.1124-444_1124-443insATATATATTTTTTTTTTTT	RBM47	ENSG00000163694.15	transcript	ENST00000295971.12	protein_coding	4/6			chr4	TogoVar
RBM47_chr4_40418280_40634864	40437090	A A	AAAAAAAA others(12): Show AAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG03098.hp2 HG03225.hp2 HG01255.hp2 HG03098.hp2 HG03225.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0011 a0001c0004t0125 a0001c0004t0011 a0001c0004t0125	a0001c0004t0011g0080 a0001c0004t0011g0131 a0001c0004t0125g0246 a0001c0004t0011g0080 a0001c0004t0011g0131 a0001c0004t0125g0246	3	278	0.0108	19	c.112 others(36): Show c.1124-444_1124-443insATATATATATTTTTTTTTT	RBM47	ENSG00000163694.15	transcript	ENST00000295971.12	protein_coding	4/6			chr4	TogoVar
RBM47_chr4_40418280_40634864	40437090	A A	AAAAAAAA others(12): Show AAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0041 a0001c0004t0005g0041	1	278	0.0036	19	c.112 others(36): Show c.1124-444_1124-443insATATATATATATTTTTTTT	RBM47	ENSG00000163694.15	transcript	ENST00000295971.12	protein_coding	4/6			chr4	TogoVar
RBM47_chr4_40418280_40634864	40437090	A A	AAAAATAT others(12): Show AAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0052 a0001c0004t0052	a0001c0004t0052g0001 a0001c0004t0052g0001	1	278	0.0036	19	c.112 others(36): Show c.1124-444_1124-443insATATATATATATATATTTT	RBM47	ENSG00000163694.15	transcript	ENST00000295971.12	protein_coding	4/6			chr4	TogoVar
RBM47_chr4_40418280_40634864	40573807	A A	AAAGAAAG others(12): Show AAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00609.hp2 others(8): Show HG00438.hp1 HG00438.hp2 HG00609.hp2 HG01243.hp2 HG01256.hp2 HG01258.hp1 HG03453.hp2 HG04115.hp2 NA18957.hp1 NA19011.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0008 others(2): Show a0001c0001 a0001c0004 a0001c0008 a0002c0002 a0002c0018	a0001c0001t0026 a0001c0001t0032 a0001c0001t0113 others(7): Show a0001c0001t0026 a0001c0001t0032 a0001c0001t0113 a0001c0004t0074 a0001c0008t0009 a0002c0002t0004 a0002c0002t0006 a0002c0002t0036 a0002c0002t0138 a0002c0018t0134	a0001c0001t0026g0199 a0001c0001t0032g0107 a0001c0001t0032g0108 others(8): Show a0001c0001t0026g0199 a0001c0001t0032g0107 a0001c0001t0032g0108 a0001c0001t0113g0251 a0001c0004t0074g0144 a0001c0008t0009g0222 a0002c0002t0004g0195 a0002c0002t0006g0185 a0002c0002t0036g0209 a0002c0002t0138g0244 a0002c0018t0134g0224	11	278	0.0396	19	c.-23 others(40): Show c.-239-29302_-239-29301insCTTTCTTTCTTTCTTTCTT	RBM47	ENSG00000163694.15	transcript	ENST00000295971.12	protein_coding	1/6			chr4	TogoVar
RBM48_chr7_92523795_92545481	92544398	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 HG02148.hp2 HG03098.hp2 others(4): Show HG00621.hp2 HG02148.hp2 HG03098.hp2 HG03239.hp1 NA18952.hp2 NA18953.hp2 NA18999.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0010 a0001c0001 a0005c0010	a0001c0001t0002 a0001c0001t0017 a0005c0010t0004 a0001c0001t0002 a0001c0001t0017 a0005c0010t0004	a0001c0001t0002g0002 a0001c0001t0002g0016 a0001c0001t0002g0018 others(2): Show a0001c0001t0002g0002 a0001c0001t0002g0016 a0001c0001t0002g0018 a0001c0001t0017g0016 a0005c0010t0004g0006	7	396	0.0177	19	c.74 others(30): Show c.7461_*7462insTTTTTTTTTTTTTTTTTTT	RBM48	ENSG00000127993.16	transcript	ENST00000265732.10	protein_coding		3918		chr7	TogoVar
RBM48_chr7_92523795_92545481	92544408	T T	TTTTATTT others(12): Show TTTTATTTTTTTTTTTTTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0045 a0001c0001t0004g0045	1	396	0.0025	19	c.74 others(30): Show c.7471_*7472insTTTATTTTTTTTTTTTTTA	RBM48	ENSG00000127993.16	transcript	ENST00000265732.10	protein_coding		3928		chr7	TogoVar
RBMS1_chr2_160267151_160498807	160426290	A A	AAAGAAAG others(12): Show AAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03927.hp2 NA18968.hp2 HG03927.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0174 a0001c0001t0005g0306 a0001c0001t0002g0174 a0001c0001t0005g0306	2	328	0.0061	19	c.76- others(36): Show c.76-58900_76-58899insCTTTCTTTCTTTCTTTCTT	RBMS1	ENSG00000153250.21	transcript	ENST00000348849.8	protein_coding	1/13			chr2	TogoVar
RBMS1_chr2_160267151_160498807	160426291	A A	AAGAAAGA others(12): Show AAGAAAGAAAGAAAAGAAAG	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0182 a0001c0002t0001g0182	1	328	0.0031	19	c.76- others(36): Show c.76-58901_76-58900insCTTTCTTTTCTTTCTTTCT	RBMS1	ENSG00000153250.21	transcript	ENST00000348849.8	protein_coding	1/13			chr2	TogoVar
RBMS2_chr12_56516820_56601193	56521502	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0084 a0001c0002t0084	a0001c0002t0084g0107 a0001c0002t0084g0107	1	280	0.0036	19	c.-52 others(28): Show c.-522_-521insTTTTTTTTTTTTTTTTTTT	RBMS2	ENSG00000076067.14	transcript	ENST00000262031.10	protein_coding		317		chr12	TogoVar
RBMS3_chr3_29276071_30015386	29280363	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG01515.hp1 HG01517.hp1 HG00639.hp1 HG01515.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0019 a0001c0001t0002 a0001c0001t0019	a0001c0001t0002g0058 a0001c0001t0019g0055 a0001c0001t0019g0056 a0001c0001t0002g0058 a0001c0001t0019g0055 a0001c0001t0019g0056	3	116	0.0259	19	c.-13 others(30): Show c.-1319_-1318insTTTTTTTTTTTTTTTTTTT	RBMS3	ENSG00000144642.22	transcript	ENST00000383767.7	protein_coding		707		chr3	TogoVar
RBMS3_chr3_29276071_30015386	29535710	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03579.hp1 HG02257.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0056 a0001c0001t0014 a0001c0001t0056	a0001c0001t0014g0074 a0001c0001t0056g0026 a0001c0001t0014g0074 a0001c0001t0056g0026	2	116	0.0172	19	c.307 others(38): Show c.307+47224_307+47242dupTTTTTTTTTTTTTTTTTTT	RBMS3	ENSG00000144642.22	transcript	ENST00000383767.7	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
RBMS3_chr3_29276071_30015386	29578790	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp1 NA18994.hp1 HG03041.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0076 a0001c0001t0025 a0001c0001t0076	a0001c0001t0025g0010 a0001c0001t0076g0088 a0001c0001t0025g0010 a0001c0001t0076g0088	2	116	0.0172	19	c.308 others(36): Show c.308-8320_308-8302dupTTTTTTTTTTTTTTTTTTT	RBMS3	ENSG00000144642.22	transcript	ENST00000383767.7	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
RBMS3_chr3_29276071_30015386	29691947	C C	CTCTCTCT others(12): Show CTCTCTCTCTATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02451.hp2 HG02559.hp2 others(5): Show HG01891.hp2 HG02451.hp2 HG02559.hp2 HG02572.hp2 HG02922.hp2 HG03130.hp1 HG03225.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0011 a0001c0001t0021 others(3): Show a0001c0001t0003 a0001c0001t0011 a0001c0001t0021 a0001c0001t0033 a0001c0001t0036 a0001c0001t0056	a0001c0001t0003g0027 a0001c0001t0003g0066 a0001c0001t0003g0089 others(5): Show a0001c0001t0003g0027 a0001c0001t0003g0066 a0001c0001t0003g0089 a0001c0001t0011g0035 a0001c0001t0021g0108 a0001c0001t0033g0043 a0001c0001t0036g0048 a0001c0001t0056g0026	8	116	0.0690	19	c.400 others(38): Show c.400-47772_400-47771insCTCTCTCTATTTTTTTTTT	RBMS3	ENSG00000144642.22	transcript	ENST00000383767.7	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
RBMS3_chr3_29276071_30015386	29820188	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0078 a0001c0001t0078	a0001c0001t0078g0067 a0001c0001t0078g0067	1	116	0.0086	19	c.638 others(38): Show c.638-48634_638-48616dupAAAAAAAAAAAAAAAAAAA	RBMS3	ENSG00000144642.22	transcript	ENST00000383767.7	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
RBMS3_chr3_29276071_30015386	29853423	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0043 a0001c0001t0033g0043	1	116	0.0086	19	c.638 others(38): Show c.638-15431_638-15413dupTTTTTTTTTTTTTTTTTTT	RBMS3	ENSG00000144642.22	transcript	ENST00000383767.7	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
RBMXL1_chr1_88974456_88997629	88987600	A A	ATATGCAC others(12): Show ATATGCACACTACCCAGATT	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	426	0.0024	19	c.-24 others(36): Show c.-241+633_-241+651dupAATCTGGGTAGTGTGCATA	RBMXL1	ENSG00000213516.10	transcript	ENST00000652648.1	protein_coding	2/2			chr1	TogoVar
RBMXL3_chrX_115184410_115197868	115197847	T T	TCTCTCTC others(12): Show TCTCTCTCTCTCTCTCCACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0003 a0003	a0003c0038 a0003c0038	a0003c0038t0001 a0003c0038t0001	a0003c0038t0001g0000 a0003c0038t0001g0000	1	314	0.0032	19	c.52 others(30): Show c.5202_*5203insCTCTCTCTCTCTCTCCACA	RBMXL3	ENSG00000175718.10	transcript	ENST00000424776.5	protein_coding		4980		chrX	TogoVar
RBP4_chr10_93586694_93606235	93599315	A A	ACACAACT others(12): Show ACACAACTTTAGAGGAAGTC	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	424	0.0024	19	c.355 others(36): Show c.355+1059_355+1077dupGACTTCCTCTAAAGTTGTG	RBP4	ENSG00000138207.15	transcript	ENST00000371464.8	protein_coding	4/5			chr10	TogoVar
RBP7_chr1_9992228_10021021	9998424	T T	TTTGAGAC others(12): Show TTTGAGACGGAGTCTCGCTC	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	376	0.0027	19	c.73+ others(34): Show c.73+1094_73+1095insTGAGACGGAGTCTCGCTCT	RBP7	ENSG00000162444.12	transcript	ENST00000294435.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
RBPJL_chr20_45301840_45322824	45305805	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00323.hp1 others(20): Show HG00099.hp2 HG00280.hp2 HG00323.hp1 HG00733.hp1 HG00738.hp1 HG01074.hp2 HG01081.hp1 HG01175.hp2 HG01257.hp2 HG03486.hp1 HG04204.hp1 NA18947.hp2 NA18948.hp2 NA18954.hp1 NA18955.hp2 NA18960.hp1 NA19000.hp1 NA19009.hp2 NA19083.hp2 NA19091.hp1 NA19091.hp2 NA20300.hp2 NA20752.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0011c0012 a0001c0001 a0011c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0011c0012t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0042 others(9): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0042 a0001c0001t0001g0092 a0001c0001t0001g0098 a0001c0001t0001g0106 a0001c0001t0002g0097 a0001c0001t0003g0001 a0001c0001t0003g0021 a0001c0001t0006g0001 a0001c0001t0008g0095 a0011c0012t0001g0001	23	446	0.0516	19	c.-11 others(30): Show c.-1118_-1117insTTTTTTTTTTTTTTTTTTT	RBPJL	ENSG00000124232.11	transcript	ENST00000343694.8	protein_coding		1034		chr20	TogoVar
RBPMS_chr8_30379541_30577256	30419450	A A	ATTGTGTG others(12): Show ATTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01099.hp2 HG01515.hp2 others(6): Show HG01070.hp2 HG01099.hp2 HG01515.hp2 HG03491.hp2 HG03704.hp1 HG03927.hp2 NA18946.hp1 NA19081.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0024	a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0021 others(6): Show a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0002g0280 a0001c0001t0004g0022 a0001c0001t0004g0262 a0001c0001t0024g0010	9	304	0.0296	19	c.66+ others(36): Show c.66+34293_66+34294insTGTGTGTGTGTGTGTGTGT	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RBPMS_chr8_30379541_30577256	30518687	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0173 a0001c0001t0003g0173	1	304	0.0033	19	c.397 others(38): Show c.397+14261_397+14279dupTTTTTTTTTTTTTTTTTTT	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RBPMS_chr8_30379541_30577256	30549772	T T	TCTCTCTC others(12): Show TCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0247	1	304	0.0033	19	c.528 others(36): Show c.528+5148_528+5149insCTCTCTCTCTCTCTCTCTC	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	6/8			chr8	TogoVar
RC3H1_chr1_173926084_174027357	173929805	T T	TTTATTTA others(12): Show TTTATTTATTTATTTATTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp2 HG01261.hp2 HG01516.hp1 others(2): Show HG01074.hp2 HG01261.hp2 HG01516.hp1 HG01517.hp1 HG03688.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0018 a0002c0003t0034 a0002c0003t0018 a0002c0003t0034	a0002c0003t0018g0100 a0002c0003t0018g0104 a0002c0003t0018g0105 others(2): Show a0002c0003t0018g0100 a0002c0003t0018g0104 a0002c0003t0018g0105 a0002c0003t0034g0101 a0002c0003t0034g0102	5	310	0.0161	19	c.89 others(30): Show c.8915_*8916insTAAATAAATAAATAAATAA	RC3H1	ENSG00000135870.12	transcript	ENST00000367696.7	protein_coding		1278		chr1	TogoVar
RC3H1_chr1_173926084_174027357	173929831	T T	TTTTTTTT others(12): Show TTTTTTTTTTTTTTTTTTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp1 HG04199.hp1 NA18955.hp1 others(1): Show HG02015.hp1 HG04199.hp1 NA18955.hp1 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0019 a0001c0001t0022 others(1): Show a0001c0001t0003 a0001c0001t0019 a0001c0001t0022 a0001c0001t0051	a0001c0001t0003g0032 a0001c0001t0019g0012 a0001c0001t0022g0028 others(1): Show a0001c0001t0003g0032 a0001c0001t0019g0012 a0001c0001t0022g0028 a0001c0001t0051g0007	4	310	0.0129	19	c.88 others(30): Show c.8889_*8890insTAAAAAAAAAAAAAAAAAA	RC3H1	ENSG00000135870.12	transcript	ENST00000367696.7	protein_coding		1252		chr1	TogoVar
RC3H1_chr1_173926084_174027357	173942428	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01884.hp2 HG02896.hp1 others(1): Show HG01081.hp2 HG01884.hp2 HG02896.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0001t0066 a0001c0002t0084 others(1): Show a0001c0001t0005 a0001c0001t0066 a0001c0002t0084 a0001c0002t0095	a0001c0001t0005g0292 a0001c0001t0066g0281 a0001c0002t0084g0217 others(1): Show a0001c0001t0005g0292 a0001c0001t0066g0281 a0001c0002t0084g0217 a0001c0002t0095g0210	4	310	0.0129	19	c.313 others(37): Show c.3135+995_3135+1013dupTTTTTTTTTTTTTTTTTTT	RC3H1	ENSG00000135870.12	transcript	ENST00000367696.7	protein_coding	18/19			chr1	TogoVar
RC3H1_chr1_173926084_174027357	173950420	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG03491.hp2 HG03492.hp2 others(1): Show HG02056.hp2 HG03491.hp2 HG03492.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0049 a0001c0001t0127 others(1): Show a0001c0001t0047 a0001c0001t0049 a0001c0001t0127 a0001c0001t0131	a0001c0001t0047g0039 a0001c0001t0049g0034 a0001c0001t0127g0021 others(1): Show a0001c0001t0047g0039 a0001c0001t0049g0034 a0001c0001t0127g0021 a0001c0001t0131g0015	4	310	0.0129	19	c.252 others(38): Show c.2523+1547_2523+1565dupTTTTTTTTTTTTTTTTTTT	RC3H1	ENSG00000135870.12	transcript	ENST00000367696.7	protein_coding	14/19			chr1	TogoVar
RC3H1_chr1_173926084_174027357	174017783	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0292 a0001c0001t0005g0292	1	310	0.0032	19	c.-15 others(38): Show c.-151+4294_-151+4312dupTTTTTTTTTTTTTTTTTTT	RC3H1	ENSG00000135870.12	transcript	ENST00000367696.7	protein_coding	1/19			chr1	TogoVar
RCBTB1_chr13_49526946_49590558	49564583	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG03130.hp2 HG03492.hp2 HG02896.hp2 HG03130.hp2 HG03492.hp2	a0002 a0002	a0002c0007 a0002c0010 a0002c0007 a0002c0010	a0002c0007t0003 a0002c0007t0006 a0002c0010t0002 a0002c0007t0003 a0002c0007t0006 a0002c0010t0002	a0002c0007t0003g0147 a0002c0007t0006g0146 a0002c0010t0002g0255 a0002c0007t0003g0147 a0002c0007t0006g0146 a0002c0010t0002g0255	3	418	0.0072	19	c.277 others(36): Show c.277+2016_277+2034dupTTTTTTTTTTTTTTTTTTT	RCBTB1	ENSG00000136144.12	transcript	ENST00000378302.7	protein_coding	4/12			chr13	TogoVar
RCC1L_chr7_75037183_75078802	75072182	A A	ATATATAT others(12): Show ATATATATATATATATATAG	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0024 a0002c0002t0002g0024	1	270	0.0037	19	c.324 others(36): Show c.324+1231_324+1232insCTATATATATATATATATA	RCC1L	ENSG00000274523.5	transcript	ENST00000610322.5	protein_coding	1/10			chr7	TogoVar
RCC1_chr1_28501043_28543989	28543239	A A	AAAAAAAA others(12): Show AAAAAAAAAAATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0266 a0001c0003t0002g0266	1	294	0.0034	19	c.52 others(30): Show c.5232_*5233insAAAAAAAAAATATATATAT	RCC1	ENSG00000180198.17	transcript	ENST00000683442.1	protein_coding		4251		chr1	TogoVar
RCC1_chr1_28501043_28543989	28543239	A A	AAAAAAAA others(12): Show AAAAAAAAATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0016 a0001c0002t0001g0016	1	294	0.0034	19	c.52 others(30): Show c.5232_*5233insAAAAAAAATATATATATAT	RCC1	ENSG00000180198.17	transcript	ENST00000683442.1	protein_coding		4251		chr1	TogoVar
RCC1_chr1_28501043_28543989	28543239	A A	AAAAAAAT others(12): Show AAAAAAATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0062 a0001c0002t0001g0062	1	294	0.0034	19	c.52 others(30): Show c.5232_*5233insAAAAAATATATATATATAT	RCC1	ENSG00000180198.17	transcript	ENST00000683442.1	protein_coding		4251		chr1	TogoVar
RCC1_chr1_28501043_28543989	28543239	A A	AAAAATAT others(12): Show AAAAATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0064 a0001c0002t0001g0064	1	294	0.0034	19	c.52 others(30): Show c.5232_*5233insAAAATATATATATATATAT	RCC1	ENSG00000180198.17	transcript	ENST00000683442.1	protein_coding		4251		chr1	TogoVar
RCC1_chr1_28501043_28543989	28543239	A A	AAATATAT others(12): Show AAATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18967.hp1 NA20300.hp1 NA20805.hp1 NA18967.hp1 NA20300.hp1 NA20805.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0023 a0001c0002t0001g0229 a0001c0002t0001g0001 a0001c0002t0001g0023 a0001c0002t0001g0229	3	294	0.0102	19	c.52 others(30): Show c.5232_*5233insAATATATATATATATATAT	RCC1	ENSG00000180198.17	transcript	ENST00000683442.1	protein_coding		4251		chr1	TogoVar
RCC2_chr1_17401760_17444677	17431359	A A	AAATATAT others(12): Show AAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02572.hp2 HG02280.hp1 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0017 a0001c0001t0006 a0001c0001t0017	a0001c0001t0006g0357 a0001c0001t0017g0356 a0001c0001t0006g0357 a0001c0001t0017g0356	2	390	0.0051	19	c.286 others(36): Show c.286-2161_286-2160insATATATATATATATATATT	RCC2	ENSG00000179051.14	transcript	ENST00000375436.9	protein_coding	2/12			chr1	TogoVar
RCC2_chr1_17401760_17444677	17431359	A A	ATAAAAAT others(12): Show ATAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0284 a0001c0001t0004g0284	1	390	0.0026	19	c.286 others(36): Show c.286-2161_286-2160insATATATATATATATTTTTA	RCC2	ENSG00000179051.14	transcript	ENST00000375436.9	protein_coding	2/12			chr1	TogoVar
RCHY1_chr4_75474033_75519403	75487528	A A	AATATATA others(12): Show AATATATATATTCATAATAT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0050 a0001c0001t0003g0050	1	406	0.0025	19	c.657 others(36): Show c.657+3052_657+3053insATATTATGAATATATATAT	RCHY1	ENSG00000163743.14	transcript	ENST00000324439.10	protein_coding	8/8			chr4	TogoVar
RCSD1_chr1_167625232_167713696	167627369	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp1 NA19030.hp1 HG02717.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0035 a0001c0001t0009g0128 a0001c0001t0001g0035 a0001c0001t0009g0128	2	350	0.0057	19	c.-30 others(30): Show c.-3055_-3054insTTTTTTTTTTTTTTTTTTT	RCSD1	ENSG00000198771.11	transcript	ENST00000367854.8	protein_coding		2862		chr1	TogoVar
RCSD1_chr1_167625232_167713696	167630721	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 NA19030.hp1 HG02280.hp1 NA19030.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0025 a0001c0001t0001 a0003c0004t0025	a0001c0001t0001g0035 a0003c0004t0025g0034 a0001c0001t0001g0035 a0003c0004t0025g0034	2	350	0.0057	19	c.6+3 others(30): Show c.6+306_6+324dupAAAAAAAAAAAAAAAAAAA	RCSD1	ENSG00000198771.11	transcript	ENST00000367854.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
RDH10_chr8_73289602_73330281	73325702	G G	GCTGATCC others(12): Show GCTGATCCCCTAAGGAGCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0080 a0001c0001t0003g0080	1	396	0.0025	19	c.26 others(30): Show c.2666_*2667insCTGATCCCCTAAGGAGCAC	RDH10	ENSG00000121039.10	transcript	ENST00000240285.10	protein_coding		422		chr8	TogoVar
RDX_chr11_110224441_110301614	110289956	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02293.hp1 NA18956.hp1 NA18972.hp1 others(3): Show HG02293.hp1 NA18956.hp1 NA18972.hp1 NA19011.hp1 NA19067.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0019 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0019 a0001c0001t0021	a0001c0001t0001g0192 a0001c0001t0003g0109 a0001c0001t0003g0215 others(3): Show a0001c0001t0001g0192 a0001c0001t0003g0109 a0001c0001t0003g0215 a0001c0001t0003g0217 a0001c0001t0019g0218 a0001c0001t0021g0216	6	376	0.0160	19	c.-65 others(36): Show c.-65+6492_-65+6510dupTTTTTTTTTTTTTTTTTTT	RDX	ENSG00000137710.17	transcript	ENST00000645495.2	protein_coding	1/13			chr11	TogoVar
RDX_chr11_110224441_110301614	110297640	T T	TTTGCAAT others(12): Show TTTGCAATACTTTTTTTAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	376	0.0027	19	c.-12 others(30): Show c.-1239_-1238insGCTAAAAAAAGTATTGCAA	RDX	ENSG00000137710.17	transcript	ENST00000645495.2	protein_coding		1027		chr11	TogoVar
REC114_chr15_73438164_73565013	73462884	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	188	0.0053	19	c.160 others(38): Show c.160-10943_160-10925dupAAAAAAAAAAAAAAAAAAA	REC114	ENSG00000183324.11	transcript	ENST00000331090.11	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
RECK_chr9_36031913_36129455	36048147	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0322 a0001c0001t0001g0322	1	392	0.0026	19	c.101 others(36): Show c.101-4105_101-4104insATATATTATATATATATAT	RECK	ENSG00000122707.12	transcript	ENST00000377966.4	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr9	TogoVar
RECQL4_chr8_144506288_144522833	144508440	G G	GGAACCCT others(12): Show GGAACCCTTAAGAAACGGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0002 a0002	a0002c0020 a0002c0020	a0002c0020t0001 a0002c0020t0001	a0002c0020t0001g0189 a0002c0020t0001g0189	1	412	0.0024	19	c.29 others(30): Show c.2990_*2991insGTCCGTTTCTTAAGGGTTC	RECQL4	ENSG00000160957.15	transcript	ENST00000617875.6	protein_coding		2847		chr8	TogoVar
REEP3_chr10_63516401_63630128	63533710	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02257.hp2 HG03195.hp1 others(2): Show HG02155.hp1 HG02257.hp2 HG03195.hp1 NA18522.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0029 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0029 a0001c0001t0065 a0001c0001t0069	a0001c0001t0001g0128 a0001c0001t0005g0129 a0001c0001t0029g0203 others(2): Show a0001c0001t0001g0128 a0001c0001t0005g0129 a0001c0001t0029g0203 a0001c0001t0065g0202 a0001c0001t0069g0201	5	284	0.0176	19	c.32+ others(36): Show c.32+12148_32+12149insTTTTTTTTTTTTTTTTTTT	REEP3	ENSG00000165476.14	transcript	ENST00000373758.5	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
REEP3_chr10_63516401_63630128	63620585	G G	GATTAATG others(12): Show GATTAATGTTTTTATGTAAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00544.hp2 others(40): Show HG00099.hp1 HG00140.hp2 HG00544.hp2 HG00609.hp1 HG00621.hp2 HG00733.hp1 HG00735.hp2 HG01070.hp2 HG01109.hp2 HG01884.hp1 HG01891.hp2 HG02015.hp1 HG02027.hp2 HG02055.hp1 HG02165.hp1 HG03453.hp1 HG03831.hp2 HG06807.hp2 NA18906.hp2 NA18946.hp1 NA18947.hp1 NA18953.hp1 NA18962.hp1 NA18977.hp1 NA18977.hp2 NA18981.hp2 NA18985.hp1 NA18987.hp2 NA18993.hp2 NA19001.hp2 NA19002.hp2 NA19006.hp1 NA19030.hp1 NA19060.hp2 NA19067.hp2 NA19068.hp1 NA19077.hp2 NA19080.hp1 NA19081.hp1 NA19082.hp1 NA19086.hp1 NA19086.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 others(7): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0015 a0001c0001t0023 a0001c0001t0039 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0051	a0001c0001t0004g0005 a0001c0001t0004g0040 a0001c0001t0004g0146 others(39): Show a0001c0001t0004g0005 a0001c0001t0004g0040 a0001c0001t0004g0146 a0001c0001t0004g0234 a0001c0001t0004g0236 a0001c0001t0004g0238 a0001c0001t0004g0240 a0001c0001t0004g0241 a0001c0001t0004g0243 a0001c0001t0004g0252 a0001c0001t0004g0258 a0001c0001t0004g0261 a0001c0001t0004g0262 a0001c0001t0004g0263 a0001c0001t0004g0264 a0001c0001t0004g0266 a0001c0001t0006g0030 a0001c0001t0006g0061 a0001c0001t0006g0235 a0001c0001t0006g0242 a0001c0001t0006g0251 a0001c0001t0006g0254 a0001c0001t0006g0265 a0001c0001t0006g0267 a0001c0001t0008g0019 a0001c0001t0008g0094 a0001c0001t0008g0108 a0001c0001t0008g0109 a0001c0001t0008g0110 a0001c0001t0008g0111 a0001c0001t0008g0116 a0001c0001t0008g0119 a0001c0001t0015g0071 a0001c0001t0015g0248 a0001c0001t0015g0255 a0001c0001t0023g0090 a0001c0001t0023g0105 a0001c0001t0039g0079 a0001c0001t0042g0081 a0001c0001t0043g0260 a0001c0001t0044g0249 a0001c0001t0051g0229	43	284	0.1514	19	c.712 others(34): Show c.712-212_712-211insAACATTAATGTTTTTATGT	REEP3	ENSG00000165476.14	transcript	ENST00000373758.5	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
RELL1_chr4_37605634_37691376	37671723	G G	GCTATGCC others(12): Show GCTATGCCCCGAGCAGCCAC	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02071.hp1 HG02129.hp2 others(2): Show HG02040.hp1 HG02071.hp1 HG02129.hp2 HG02738.hp2 NA18988.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0009 a0001c0001 a0005c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0075 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0075 a0005c0009t0002	a0001c0001t0001g0317 a0001c0001t0002g0315 a0001c0001t0002g0316 others(2): Show a0001c0001t0001g0317 a0001c0001t0002g0315 a0001c0001t0002g0316 a0001c0001t0075g0314 a0005c0009t0002g0320	5	324	0.0154	19	c.88+ others(36): Show c.88+14476_88+14477insGTGGCTGCTCGGGGCATAG	RELL1	ENSG00000181826.10	transcript	ENST00000454158.7	protein_coding	1/6			chr4	TogoVar

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