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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
RNF34_chr12_121395118_121429348	121406283	A A	AGTTGTTG others(20): Show AGTTGTTGTTGTTGTTGTTGTTGTTGTT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02735.hp2 HG02896.hp1 others(2): Show HG02572.hp1 HG02735.hp2 HG02896.hp1 HG02897.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0212 a0001c0001t0002g0224 a0001c0001t0002g0237 others(2): Show a0001c0001t0002g0212 a0001c0001t0002g0224 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0256	5	350	0.0143	27	c.6+6 others(40): Show c.6+6086_6+6087insGTTGTTGTTGTTGTTGTTGTTGTTGTT		RNF34	ENSG00000170633.17	transcript	ENST00000361234.10	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr12	TogoVar
RNF4_chr4_2464106_2520857	2484067	T T	TCCCCCCC others(20): Show TCCCCCCCCCCCCCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG06807.hp1 HG01167.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0184 a0001c0001t0002g0208 a0001c0001t0002g0184 a0001c0001t0002g0208	2	378	0.0053	27	c.-15 others(46): Show c.-157-6262_-157-6261insCCCCCCCCCCCCCCCCCCCCCCCCCC C		RNF4	ENSG00000063978.17	transcript	ENST00000314289.13	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr4	TogoVar
RNF4_chr4_2464106_2520857	2518496	T T	TTAGCACA others(20): Show TTAGCACAACAGGGTGACTACAGTCAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0257 a0001c0001t0003g0257	1	378	0.0027	27	c.46 others(38): Show c.4677_*4678insTAGCACAACAGGGTGACTACAGTCAAC		RNF4	ENSG00000063978.17	transcript	ENST00000314289.13	protein_coding					2640		chr4	TogoVar
RNFT2_chr12_116733315_116858631	116785275	G G	GTGTGTGT others(20): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0124 a0001c0001t0019g0124	1	268	0.0037	27	c.882 others(44): Show c.882+5927_882+5928insTGTGTGTGTGTGTGTGTGTGTGTGTGT		RNFT2	ENSG00000135119.15	transcript	ENST00000257575.9	protein_coding	7/10						chr12	TogoVar
RNFT2_chr12_116733315_116858631	116832148	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0021 a0001c0003t0021	a0001c0003t0021g0038 a0001c0003t0021g0038	1	268	0.0037	27	c.883 others(44): Show c.883-1644_883-1643insTATATATATATATATATATATATATAT		RNFT2	ENSG00000135119.15	transcript	ENST00000257575.9	protein_coding	7/10						chr12	TogoVar
RNGTT_chr6_88604897_88968618	88647715	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0146 a0001c0001t0002g0146	1	220	0.0046	27	c.150 others(48): Show c.1506+30637_1506+30638insCTTTTTTTTTTTTTTTTTTTTTTT TTT		RNGTT	ENSG00000111880.16	transcript	ENST00000369485.9	protein_coding	14/15						chr6	TogoVar
RNGTT_chr6_88604897_88968618	88647715	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAAGAAAAAAGAAG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03453.hp2 NA18906.hp2 HG02922.hp2 HG03453.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0093 a0001c0001t0004g0170 a0001c0001t0004g0171 a0001c0001t0004g0093 a0001c0001t0004g0170 a0001c0001t0004g0171	3	220	0.0136	27	c.150 others(48): Show c.1506+30637_1506+30638insCTTCTTTTTTCTTTTTTTTTTTTT TTT		RNGTT	ENSG00000111880.16	transcript	ENST00000369485.9	protein_coding	14/15						chr6	TogoVar
ROBO2_chr3_77035099_77654964	77277156	C C	CCTTCTTT others(20): Show CCTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0151 a0001c0002t0001g0151	1	160	0.0063	27	c.388 others(48): Show c.388+178820_388+178846dupCTTTCTTTCTTTCTTTCTTTCTTT CTT		ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27					INFO_REALIGN_3_PRIME	chr3	TogoVar
ROBO2_chr3_77035099_77654964	77410597	C C	CTCCTCCT others(20): Show CTCCTCCTGCTCTTCCTCCTCCTCCTCT	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA19077.hp2 NA18959.hp2 NA19077.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0037 a0001c0002t0010g0144 a0001c0002t0010g0037 a0001c0002t0010g0144	2	160	0.0125	27	c.389 others(46): Show c.389-66810_389-66809insGCTCTTCCTCCTCCTCCTCTTCCTCC T		ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27					INFO_REALIGN_3_PRIME	chr3	TogoVar
ROCK1_chr18_20941906_21116813	20959057	T T	TTTTATAT others(20): Show TTTTATATAATATATATAATATTATATA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02280.hp2 HG02615.hp2 others(1): Show HG02145.hp2 HG02280.hp2 HG02615.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0001 a0001c0001t0008g0002 a0001c0001t0008g0003 others(1): Show a0001c0001t0008g0001 a0001c0001t0008g0002 a0001c0001t0008g0003 a0001c0001t0008g0119	4	212	0.0189	27	c.351 others(44): Show c.3512+782_3512+783insTATATAATATTATATATATTATATAAA		ROCK1	ENSG00000067900.9	transcript	ENST00000399799.3	protein_coding	29/32						chr18	TogoVar
ROCK1_chr18_20941906_21116813	20959132	A A	ATATATAT others(20): Show ATATATATATTATATATAATATATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0171 a0001c0004t0001g0171	1	212	0.0047	27	c.351 others(44): Show c.3512+707_3512+708insATATATATATTATATATAATATATATA		ROCK1	ENSG00000067900.9	transcript	ENST00000399799.3	protein_coding	29/32						chr18	TogoVar
ROCK1_chr18_20941906_21116813	21033854	T T	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0095 a0001c0001t0002g0095	1	212	0.0047	27	c.105 others(46): Show c.1052-4946_1052-4920dupTTTTTTTTTTTTTTTTTTTTTTTTTT T		ROCK1	ENSG00000067900.9	transcript	ENST00000399799.3	protein_coding	9/32						chr18	TogoVar
ROCK2_chr2_11174759_11349636	11248708	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0243 a0001c0001t0004g0243	1	320	0.0031	27	c.462 others(42): Show c.462+926_462+952dupTTTTTTTTTTTTTTTTTTTTTTTTTTT		ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	4/32						chr2	TogoVar
ROCK2_chr2_11174759_11349636	11295989	A A	AGAGAGAG others(20): Show AGAGAGAGAGAGGAGAGAGAGAGAGAGG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0048 a0002c0002t0002g0048	1	320	0.0031	27	c.142 others(44): Show c.142-8254_142-8253insCCTCTCTCTCTCTCTCCTCTCTCTCTC		ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32						chr2	TogoVar
ROCK2_chr2_11174759_11349636	11295990	G G	GAGAGAGG others(20): Show GAGAGAGGAGAGAGAGAGAGAGGGGAGA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0009 a0002c0002t0002g0009	1	320	0.0031	27	c.142 others(44): Show c.142-8255_142-8254insTCTCCCCTCTCTCTCTCTCTCCTCTCT		ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32						chr2	TogoVar
ROCK2_chr2_11174759_11349636	11295990	G G	GAGAGGAG others(20): Show GAGAGGAGAGAGAGAGAGAGGGGGGAGA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0011 a0002c0002t0011	a0002c0002t0011g0117 a0002c0002t0011g0117	1	320	0.0031	27	c.142 others(44): Show c.142-8255_142-8254insTCTCCCCCCTCTCTCTCTCTCTCCTCT		ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32						chr2	TogoVar
ROCK2_chr2_11174759_11349636	11296005	G G	GGAGAGAG others(20): Show GGAGAGAGAGAGAGAGGGGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02135.hp2 HG03927.hp1 others(5): Show HG02132.hp1 HG02135.hp2 HG03927.hp1 NA18612.hp2 NA18942.hp2 NA18946.hp1 NA19009.hp2 NA19080.hp1	a0002 a0002	a0002c0002 a0002c0004 a0002c0002 a0002c0004	a0002c0002t0002 a0002c0002t0003 a0002c0002t0046 others(1): Show a0002c0002t0002 a0002c0002t0003 a0002c0002t0046 a0002c0004t0002	a0002c0002t0002g0064 a0002c0002t0002g0087 a0002c0002t0003g0018 others(5): Show a0002c0002t0002g0064 a0002c0002t0002g0087 a0002c0002t0003g0018 a0002c0002t0046g0019 a0002c0004t0002g0021 a0002c0004t0002g0045 a0002c0004t0002g0061 a0002c0004t0002g0092	8	320	0.0250	27	c.142 others(44): Show c.142-8270_142-8269insTCTCTCTCTCCCCTCTCTCTCTCTCTC		ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32						chr2	TogoVar
ROCK2_chr2_11174759_11349636	11296005	G G	GGGGAGAG others(20): Show GGGGAGAGGGGGGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0131 a0001c0006t0001g0131	1	320	0.0031	27	c.142 others(44): Show c.142-8270_142-8269insTCTCTCTCTCTCTCTCCCCCCTCTCCC		ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32						chr2	TogoVar
ROGDI_chr16_4791968_4807633	4802474	T T	TCGCGCCC others(20): Show TCGCGCCCGGCCCCGCCGCCCCGCCGGC	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0081 a0001c0001t0002g0081	1	414	0.0024	27	c.45+ others(38): Show c.45+26_46-22dupGCCGGCGGGGCGGCGGGGCCGGGCGCG		ROGDI	ENSG00000067836.13	transcript	ENST00000322048.12	protein_coding	1/10						chr16	TogoVar
ROPN1L_chr5_10436879_10470026	10455870	G G	GGCTTTTA others(20): Show GGCTTTTAAAAACCAGTGCTGGGTCAGA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	374	0.0027	27	c.418 others(44): Show c.418-5312_418-5311insTTTTAAAAACCAGTGCTGGGTCAGAGC		ROPN1L	ENSG00000145491.12	transcript	ENST00000274134.5	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr5	TogoVar
ROPN1L_chr5_10436879_10470026	10459284	A A	AGGTTCCC others(20): Show AGGTTCCCGCCTTCCACCCTCCTCACCG	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	374	0.0027	27	c.418 others(44): Show c.418-1879_418-1853dupCTCACCGGGTTCCCGCCTTCCACCCTC		ROPN1L	ENSG00000145491.12	transcript	ENST00000274134.5	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr5	TogoVar
ROPN1L_chr5_10436879_10470026	10459318	C C	CGCCTTCC others(20): Show CGCCTTCCACCCTCATCACTGGGTTCCT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0228 a0001c0005t0001g0228	1	374	0.0027	27	c.418 others(44): Show c.418-1840_418-1814dupCTGCCTTCCACCCTCATCACTGGGTTC		ROPN1L	ENSG00000145491.12	transcript	ENST00000274134.5	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr5	TogoVar
ROPN1_chr3_123964015_123997124	123985992	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0179 a0002c0005t0001g0179	1	416	0.0024	27	c.-12 others(44): Show c.-12-5500_-12-5499insTTTTTTTTTTTTTTTTTTTTTTTTTTT		ROPN1	ENSG00000065371.18	transcript	ENST00000405845.8	protein_coding	1/5						chr3	TogoVar
ROR1_chr1_63769017_64186498	64083536	T T	TGTGTGTG others(20): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTC	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG03579.hp2 NA19030.hp2 HG01070.hp2 HG03579.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0010 a0001c0002 a0001c0005 a0001c0010	a0001c0002t0006 a0001c0005t0001 a0001c0010t0010 a0001c0002t0006 a0001c0005t0001 a0001c0010t0010	a0001c0002t0006g0056 a0001c0005t0001g0055 a0001c0010t0010g0086 a0001c0002t0006g0056 a0001c0005t0001g0055 a0001c0010t0010g0086	3	96	0.0313	27	c.482 others(46): Show c.482+32820_482+32821insGTGTGTGTGTGTGTGTGTGTGTGTGT C		ROR1	ENSG00000185483.13	transcript	ENST00000371079.6	protein_coding	4/8						chr1	TogoVar
ROR2_chr9_91717601_91955228	91829549	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0003 a0003	a0003c0019 a0003c0019	a0003c0019t0002 a0003c0019t0002	a0003c0019t0002g0003 a0003c0019t0002g0003	1	226	0.0044	27	c.98- others(44): Show c.98-53732_98-53731insTTTTTTTTTTTTTTTTTTTTTTTTTTT		ROR2	ENSG00000169071.15	transcript	ENST00000375708.4	protein_coding	1/8						chr9	TogoVar
ROR2_chr9_91717601_91955228	91836539	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0035 a0001c0035	a0001c0035t0003 a0001c0035t0003	a0001c0035t0003g0204 a0001c0035t0003g0204	1	226	0.0044	27	c.98- others(44): Show c.98-60722_98-60721insTTTTTTTTTTTTTTTTTTTTTTTTTTT		ROR2	ENSG00000169071.15	transcript	ENST00000375708.4	protein_coding	1/8						chr9	TogoVar
ROR2_chr9_91717601_91955228	91937029	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0006 a0001c0014t0006	a0001c0014t0006g0149 a0001c0014t0006g0149	1	226	0.0044	27	c.97+ others(44): Show c.97+12837_97+12838insTTTTTTTTTTTTTTTTTTTTTTTTTTT		ROR2	ENSG00000169071.15	transcript	ENST00000375708.4	protein_coding	1/8						chr9	TogoVar
RORA_chr15_60483284_61234302	60517110	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0012 a0001c0003t0014g0012	1	118	0.0085	27	c.283 others(44): Show c.283-2354_283-2353insAAAAAAAAAAAAAAAAAAAAAAAAAAA		RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	3/10						chr15	TogoVar
RPA2_chr1_27886524_27919575	27916986	T T	TCCTTCCT others(20): Show TCCTTCCTTCCTCCTTCCTTCCTCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp2 HG03492.hp2 HG02602.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0095 a0001c0001t0001g0001 a0001c0001t0001g0095	2	364	0.0055	27	c.-25 others(38): Show c.-2544_-2543insGAGGGAGGAAGGAAGGAGGAAGGAAGG		RPA2	ENSG00000117748.10	transcript	ENST00000373912.8	protein_coding					2412		chr1	TogoVar
RPA2_chr1_27886524_27919575	27916998	T T	TCCTCCCT others(20): Show TCCTCCCTCCTTCCTTCCTCCTTCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0183 a0001c0001t0008g0183	1	364	0.0028	27	c.-25 others(38): Show c.-2556_-2555insGAGGGAAGGAGGAAGGAAGGAGGGAGG		RPA2	ENSG00000117748.10	transcript	ENST00000373912.8	protein_coding					2424		chr1	TogoVar
RPA2_chr1_27886524_27919575	27917046	C C	CTCCTTCC others(20): Show CTCCTTCCTTCCTCCTTCCCTCCCTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00323.hp1 others(18): Show HG00099.hp1 HG00280.hp1 HG00323.hp1 HG00735.hp1 HG01081.hp2 HG01256.hp2 HG01346.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01981.hp2 HG02083.hp1 HG02132.hp1 HG02698.hp1 HG02735.hp2 HG03669.hp1 HG03688.hp2 HG04115.hp2 HG04199.hp1 NA20752.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0004 a0001c0003t0002 a0001c0001t0002 a0001c0001t0004 a0001c0003t0002	a0001c0001t0002g0004 a0001c0001t0002g0164 a0001c0001t0002g0172 others(10): Show a0001c0001t0002g0004 a0001c0001t0002g0164 a0001c0001t0002g0172 a0001c0001t0002g0194 a0001c0001t0004g0038 a0001c0001t0004g0207 a0001c0001t0004g0209 a0001c0001t0004g0211 a0001c0001t0004g0212 a0001c0001t0004g0213 a0001c0001t0004g0214 a0001c0001t0004g0215 a0001c0003t0002g0023	21	364	0.0577	27	c.-26 others(38): Show c.-2604_-2603insAGGAGGGAGGGAAGGAGGAAGGAAGGA		RPA2	ENSG00000117748.10	transcript	ENST00000373912.8	protein_coding					2472		chr1	TogoVar
RPA3_chr7_7631518_7723607	7679071	C C	CATATATT others(20): Show CATATATTTATATATTTAGTTTATAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0057 a0001c0001t0005g0057	1	308	0.0033	27	c.-75 others(46): Show c.-758+6758_-758+6759insTTTTATAAACTAAATATATAAATATA T		RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7						chr7	TogoVar
RPA3_chr7_7631518_7723607	7679134	A A	ATTTATAT others(20): Show ATTTATATATTTAGTTTATAGATACATG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01496.hp2 HG02965.hp1 HG00140.hp1 HG01496.hp2 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0054 a0001c0001t0001g0190 a0001c0001t0006g0182 a0001c0001t0001g0054 a0001c0001t0001g0190 a0001c0001t0006g0182	3	308	0.0097	27	c.-75 others(46): Show c.-758+6695_-758+6696insCATGTATCTATAAACTAAATATATAA A		RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7						chr7	TogoVar
RPA3_chr7_7631518_7723607	7679165	A A	ATTTATAT others(20): Show ATTTATATATTTAGTTTATAGATACATG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00642.hp2 HG01168.hp1 others(14): Show HG00323.hp1 HG00642.hp2 HG01168.hp1 HG01169.hp2 HG01891.hp1 HG01928.hp1 HG02818.hp1 HG02922.hp2 NA18960.hp1 NA18963.hp2 NA18986.hp2 NA18988.hp2 NA19001.hp1 NA19003.hp1 NA19009.hp1 NA19009.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0010 a0001c0001t0020	a0001c0001t0001g0136 a0001c0001t0001g0157 a0001c0001t0001g0159 others(13): Show a0001c0001t0001g0136 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0176 a0001c0001t0001g0179 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0199 a0001c0001t0001g0228 a0001c0001t0001g0255 a0001c0001t0002g0098 a0001c0001t0003g0006 a0001c0001t0003g0133 a0001c0001t0006g0221 a0001c0001t0010g0180 a0001c0001t0020g0246	17	308	0.0552	27	c.-75 others(46): Show c.-758+6664_-758+6665insCATGTATCTATAAACTAAATATATAA A		RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7						chr7	TogoVar
RPA3_chr7_7631518_7723607	7679196	A A	ATTTATAT others(20): Show ATTTATATATTTAGTTTATAGATACATG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03225.hp1 NA18953.hp1 HG01109.hp1 HG03225.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0018 a0001c0001t0001 a0001c0001t0018	a0001c0001t0001g0184 a0001c0001t0001g0214 a0001c0001t0018g0292 a0001c0001t0001g0184 a0001c0001t0001g0214 a0001c0001t0018g0292	3	308	0.0097	27	c.-75 others(46): Show c.-758+6633_-758+6634insCATGTATCTATAAACTAAATATATAA A		RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7						chr7	TogoVar
RPA3_chr7_7631518_7723607	7679227	A A	ATTTATAT others(20): Show ATTTATATATTTAGTTTATAGATACATG	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00741.hp1 HG02630.hp1 others(7): Show HG00733.hp1 HG00741.hp1 HG02630.hp1 HG02647.hp1 HG02809.hp1 HG03516.hp2 HG03831.hp2 HG03942.hp1 NA19063.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0013 a0001c0001t0001 a0001c0001t0007 a0001c0001t0013	a0001c0001t0001g0008 a0001c0001t0001g0077 a0001c0001t0001g0107 others(7): Show a0001c0001t0001g0008 a0001c0001t0001g0077 a0001c0001t0001g0107 a0001c0001t0001g0113 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0140 a0001c0001t0001g0147 a0001c0001t0007g0171 a0001c0001t0013g0111	10	308	0.0325	27	c.-75 others(46): Show c.-758+6602_-758+6603insCATGTATCTATAAACTAAATATATAA A		RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7						chr7	TogoVar
RPA3_chr7_7631518_7723607	7679258	A A	ATTTATAT others(20): Show ATTTATATATTTAGTTTATAGATACATG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02970.hp1 HG02451.hp2 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0013 a0001c0001t0005g0289 a0001c0001t0001g0013 a0001c0001t0005g0289	2	308	0.0065	27	c.-75 others(46): Show c.-758+6571_-758+6572insCATGTATCTATAAACTAAATATATAA A		RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7						chr7	TogoVar
RPA3_chr7_7631518_7723607	7679289	A A	ATTTATAT others(20): Show ATTTATATATTTAGTTTATAGATACATG	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00735.hp1 HG00735.hp2 others(19): Show HG00733.hp2 HG00735.hp1 HG00735.hp2 HG01069.hp1 HG01167.hp2 HG01192.hp1 HG01261.hp1 HG01884.hp2 HG01928.hp2 HG02056.hp2 HG02109.hp2 HG02615.hp2 HG02622.hp1 HG03654.hp1 NA18747.hp1 NA18946.hp2 NA18961.hp2 NA18963.hp1 NA19000.hp2 NA19005.hp1 NA19085.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 a0001c0001t0001 a0001c0001t0004 a0001c0001t0009	a0001c0001t0001g0215 a0001c0001t0001g0232 a0001c0001t0004g0002 others(17): Show a0001c0001t0001g0215 a0001c0001t0001g0232 a0001c0001t0004g0002 a0001c0001t0004g0038 a0001c0001t0004g0039 a0001c0001t0004g0041 a0001c0001t0004g0042 a0001c0001t0004g0043 a0001c0001t0004g0044 a0001c0001t0004g0045 a0001c0001t0004g0046 a0001c0001t0004g0047 a0001c0001t0004g0048 a0001c0001t0004g0049 a0001c0001t0004g0050 a0001c0001t0004g0244 a0001c0001t0009g0003 a0001c0001t0009g0051 a0001c0001t0009g0052 a0001c0001t0009g0053	22	308	0.0714	27	c.-75 others(46): Show c.-758+6540_-758+6541insCATGTATCTATAAACTAAATATATAA A		RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7						chr7	TogoVar
RPA3_chr7_7631518_7723607	7679302	G G	GTTTATAG others(20): Show GTTTATAGATACATGTTTATATATTTAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 NA19004.hp2 NA19076.hp2 HG00140.hp2 NA19004.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0271 a0001c0001t0003g0263 a0001c0001t0003g0277 a0001c0001t0001g0271 a0001c0001t0003g0263 a0001c0001t0003g0277	3	308	0.0097	27	c.-75 others(46): Show c.-758+6527_-758+6528insTTAAATATATAAACATGTATCTATAA A		RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7						chr7	TogoVar
RPA3_chr7_7631518_7723607	7679320	A A	ATTTATAT others(20): Show ATTTATATATTTAGTTTATAGATACATG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0260 a0001c0001t0008g0260	1	308	0.0033	27	c.-75 others(46): Show c.-758+6509_-758+6510insCATGTATCTATAAACTAAATATATAA A		RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7						chr7	TogoVar
RPA3_chr7_7631518_7723607	7679567	A A	ATATTTAA others(20): Show ATATTTAATTTATAGATAAATATATATT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0283 a0001c0001t0001g0283	1	308	0.0033	27	c.-75 others(46): Show c.-758+6262_-758+6263insAATATATATTTATCTATAAATTAAAT A		RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7						chr7	TogoVar
RPAP2_chr1_92294059_92407056	92305432	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01517.hp1 HG02040.hp2 HG01123.hp2 HG01517.hp1 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0014 a0001c0001t0035 a0001c0001t0002 a0001c0001t0014 a0001c0001t0035	a0001c0001t0002g0108 a0001c0001t0014g0110 a0001c0001t0035g0109 a0001c0001t0002g0108 a0001c0001t0014g0110 a0001c0001t0035g0109	3	192	0.0156	27	c.399 others(44): Show c.399+1102_399+1103insAAAAAAAAAAAAAAAAAAAAAAAAAAA		RPAP2	ENSG00000122484.9	transcript	ENST00000610020.2	protein_coding	5/12					INFO_REALIGN_3_PRIME	chr1	TogoVar
RPEL1_chr10_103240887_103253016	103251136	T T	TCCACCAC others(20): Show TCCACCACCACCATCACCACCACCATCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	375	0.0027	27	c.44 others(38): Show c.4453_*4454insCCACCACCACCATCACCACCACCATCA		RPEL1	ENSG00000235376.5	transcript	ENST00000441178.2	protein_coding					3121		chr10	TogoVar
RPEL1_chr10_103240887_103253016	103251161	T T	TCACCACC others(20): Show TCACCACCACCACCATCACCACCATCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0000 a0001c0001t0003g0000	1	375	0.0027	27	c.44 others(38): Show c.4478_*4479insCACCACCACCACCATCACCACCATCAC		RPEL1	ENSG00000235376.5	transcript	ENST00000441178.2	protein_coding					3146		chr10	TogoVar
RPEL1_chr10_103240887_103253016	103251253	T T	TCCACCAT others(20): Show TCCACCATCACCACCATCACCACCTCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG01074.hp1 HG01081.hp2 others(43): Show HG00597.hp2 HG01074.hp1 HG01081.hp2 HG01109.hp2 HG01884.hp2 HG01891.hp2 HG02004.hp1 HG02056.hp2 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02630.hp2 HG02683.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02895.hp1 HG02897.hp2 HG02976.hp1 HG03098.hp1 HG03492.hp2 HG03540.hp2 HG03579.hp1 NA18522.hp1 NA18940.hp1 NA18943.hp2 NA18945.hp1 NA18946.hp2 NA18959.hp1 NA18963.hp1 NA18966.hp2 NA18977.hp1 NA18980.hp2 NA18983.hp1 NA18986.hp1 NA18992.hp2 NA18995.hp1 NA18998.hp2 NA19002.hp2 NA19003.hp1 NA19057.hp1 NA19057.hp2 NA19074.hp1 NA19084.hp1 NA19091.hp2 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0005 a0001c0001t0013 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0013 a0001c0001t0016 a0003c0003t0001	a0001c0001t0001g0000 a0001c0001t0005g0000 a0001c0001t0013g0000 others(2): Show a0001c0001t0001g0000 a0001c0001t0005g0000 a0001c0001t0013g0000 a0001c0001t0016g0000 a0003c0003t0001g0000	46	375	0.1227	27	c.45 others(38): Show c.4570_*4571insCCACCATCACCACCATCACCACCTCCA		RPEL1	ENSG00000235376.5	transcript	ENST00000441178.2	protein_coding					3238		chr10	TogoVar
RPGRIP1L_chr16_53593153_53708859	53617073	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp1 NA18948.hp2 NA18965.hp1 others(3): Show HG00597.hp1 NA18948.hp2 NA18965.hp1 NA19055.hp2 NA19075.hp1 NA19091.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0155 a0002c0002t0001g0156 a0002c0002t0001g0159 others(3): Show a0002c0002t0001g0155 a0002c0002t0001g0156 a0002c0002t0001g0159 a0002c0002t0001g0161 a0002c0002t0001g0163 a0002c0002t0001g0176	6	364	0.0165	27	c.361 others(46): Show c.3616+1951_3616+1952insTTTTTTTTTTTTTTTTTTTTTTTTTT T		RPGRIP1L	ENSG00000103494.16	transcript	ENST00000647211.2	protein_coding	24/26						chr16	TogoVar
RPGRIP1_chr14_21275083_21356301	21297878	T T	TTTCTTTC others(20): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0268 a0004c0007t0001g0268	1	332	0.0030	27	c.218 others(44): Show c.218+3071_218+3072insCTTTCTTTCTTTCTTTCTTTCTTTCTT		RPGRIP1	ENSG00000092200.13	transcript	ENST00000400017.7	protein_coding	3/24					INFO_REALIGN_3_PRIME	chr14	TogoVar
RPGR_chrX_38279408_38332509	38286366	C C	CCCTCCCC others(20): Show CCCTCCCCTTCTCCTTCCTCCCCTTCTT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02109.hp1 NA19030.hp1 NA19240.hp2 HG02109.hp1 NA19030.hp1 NA19240.hp2	a0014 a0037 a0014 a0037	a0014c0014 a0037c0039 a0014c0014 a0037c0039	a0014c0014t0001 a0037c0039t0001 a0014c0014t0001 a0037c0039t0001	a0014c0014t0001g0206 a0014c0014t0001g0207 a0037c0039t0001g0046 a0014c0014t0001g0206 a0014c0014t0001g0207 a0037c0039t0001g0046	3	302	0.0099	27	c.260 others(36): Show c.2606_2632dupAAGAAGGGGAGGAAGGAGAAGGGGAGG	p.Glu others(13): Show p.Glu869_Glu877dup	RPGR	ENSG00000156313.15	transcript	ENST00000645032.1	protein_coding	15/15	2774/4733	2632/3459	878/1152			chrX	TogoVar
RPH3AL_chr17_207389_357807	320002	A A	AGGGGGAG others(20): Show AGGGGGAGGGAGACTGAGGGGAGGGAGG	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0129 a0001c0001t0010g0129	1	133	0.0075	27	c.222 others(42): Show c.222-454_222-453insCCTCCCTCCCCTCAGTCTCCCTCCCCC		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	4/9						chr17	TogoVar
RPL10_chrX_154393377_154407332	154396712	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0009 a0002c0002t0004g0009	1	276	0.0036	27	c.-17 others(38): Show c.-1706_-1705insTATATATATATATATATATATATATTT		RPL10	ENSG00000147403.18	transcript	ENST00000369817.7	protein_coding					1664		chrX	TogoVar

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