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
REPS2_chrX_16941658_17158272	17093200	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG03209.hp1 HG03490.hp1 others(3): Show HG01074.hp1 HG03209.hp1 HG03490.hp1 HG03704.hp2 NA18946.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 a0001c0001t0002 a0001c0001t0006 a0001c0001t0008	a0001c0001t0002g0049 a0001c0001t0002g0106 a0001c0001t0002g0111 others(3): Show a0001c0001t0002g0049 a0001c0001t0002g0106 a0001c0001t0002g0111 a0001c0001t0002g0113 a0001c0001t0006g0132 a0001c0001t0008g0021	6	166	0.0361	25	c.151 others(46): Show c.1517-10518_1517-10517insTATATATATATATATATATATATA T	REPS2	ENSG00000169891.18	transcript	ENST00000357277.8	protein_coding	13/17			chrX	TogoVar
RERE_chr1_8347404_8822640	8372543	T T	TGTGTGTG others(18): Show TGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0184 a0001c0001t0006g0184	1	204	0.0049	25	c.128 others(44): Show c.1285-6570_1285-6569insCACACACACACACACACACACACAC	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	12/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8383865	T T	TAAATAAA others(18): Show TAAATAAAATAAAATAAAATAAAATA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0032 a0001c0002t0032	a0001c0002t0032g0155 a0001c0002t0032g0155	1	204	0.0049	25	c.128 others(46): Show c.1285-17916_1285-17892dupTATTTTATTTTATTTTATTTTATT T	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	12/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8403825	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0007 a0001c0010t0007	a0001c0010t0007g0034 a0001c0010t0007g0034	1	204	0.0049	25	c.128 others(46): Show c.1284+18901_1284+18902insAAAAAAAAAAAAAAAAAAAAAAAA A	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	12/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8559280	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02004.hp2 HG02451.hp1 HG00609.hp2 HG02004.hp2 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0002t0002 a0001c0004t0001 a0001c0001t0001 a0001c0002t0002 a0001c0004t0001	a0001c0001t0001g0039 a0001c0002t0002g0163 a0001c0004t0001g0049 a0001c0001t0001g0039 a0001c0002t0002g0163 a0001c0004t0001g0049	3	204	0.0147	25	c.523 others(42): Show c.523-1758_523-1757insTTTTTTTTTTTTTTTTTTTTTTTTT	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	4/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8607534	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02622.hp2 HG02280.hp1 HG02622.hp2	a0001 a0001	a0001c0003 a0001c0011 a0001c0003 a0001c0011	a0001c0003t0012 a0001c0011t0007 a0001c0003t0012 a0001c0011t0007	a0001c0003t0012g0018 a0001c0011t0007g0029 a0001c0003t0012g0018 a0001c0011t0007g0029	2	204	0.0098	25	c.522 others(42): Show c.522+7002_522+7026dupAAAAAAAAAAAAAAAAAAAAAAAAA	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	4/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8789301	A A	AAATATAT others(18): Show AAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0157 a0001c0002t0002g0157	1	204	0.0049	25	c.-14 others(46): Show c.-145+27858_-145+27859insATATATATATATATATATATATAT T	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	1/22			chr1	TogoVar
RERG_chr12_15102783_15226417	15161138	A A	AGAAAGAA others(18): Show AGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	300	0.0033	25	c.62- others(42): Show c.62-40020_62-40019insCTTTCTTTCTTTCTTTCTTTCTTTC	RERG	ENSG00000134533.6	transcript	ENST00000256953.6	protein_coding	2/4			chr12	TogoVar
REST_chr4_56902900_56940844	56905348	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0152 a0001c0001t0003g0152	1	408	0.0025	25	c.-28 others(36): Show c.-2875_-2874insTATATATATATATATATATATATAT	REST	ENSG00000084093.19	transcript	ENST00000309042.12	protein_coding		2551		chr4	TogoVar
RETN_chr19_7664049_7675455	7674859	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp1 NA19030.hp2 HG03195.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0016 a0001c0001t0002g0016	2	458	0.0044	25	c.45 others(36): Show c.4510_*4511insTTTTTTTTTTTTTTTTTTTTTTTTT	RETN	ENSG00000104918.8	transcript	ENST00000221515.6	protein_coding		4405		chr19	TogoVar
RETREG3_chr17_42574515_42614374	42611452	C C	CGGAATTT others(18): Show CGGAATTTTTATTCCTAATCAGAACG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	360	0.0028	25	c.-21 others(36): Show c.-2129_-2128insCGTTCTGATTAGGAATAAAAATTCC	RETREG3	ENSG00000141699.11	transcript	ENST00000309428.10	protein_coding		2079		chr17	TogoVar
REV1_chr2_99395477_99495017	99490088	G G	GCCCCGCC others(18): Show GCCCCGCCCACGCCCCCCTCCGCGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	324	0.0031	25	c.-28 others(34): Show c.-283_-282insGCCGCGGAGGGGGGCGTGGGCGGGG	REV1	ENSG00000135945.10	transcript	ENST00000258428.8	protein_coding		72		chr2	TogoVar
REV3L_chr6_111294033_111488218	111408602	A A	AAAAACAA others(18): Show AAAAACAAAACAAAACAAAACAAAAC	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0241 a0002c0002t0001g0241	1	288	0.0035	25	c.404 others(42): Show c.404+2853_404+2877dupGTTTTGTTTTGTTTTGTTTTGTTTT	REV3L	ENSG00000009413.17	transcript	ENST00000368802.8	protein_coding	3/31			chr6	TogoVar
REXO1_chr19_1810248_1853483	1811926	C C	CCCCCTCA others(18): Show CCCCCTCACTAACTGGGATGCCCCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0113 a0005c0005t0001g0113	1	380	0.0026	25	c.41 others(36): Show c.4115_*4139dupATGGGGCATCCCAGTTAGTGAGGGG	REXO1	ENSG00000079313.15	transcript	ENST00000170168.9	protein_coding		3321		chr19	TogoVar
REXO5_chr16_20801527_20854665	20820544	A A	ATATATAT others(18): Show ATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	372	0.0027	25	c.476 others(42): Show c.476-1217_476-1216insATATATATATATATATATATATTTT	REXO5	ENSG00000005189.20	transcript	ENST00000261377.11	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr16	TogoVar
REXO5_chr16_20801527_20854665	20820545	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	372	0.0027	25	c.476 others(42): Show c.476-1217_476-1216insATATATATATATATATATATATATA	REXO5	ENSG00000005189.20	transcript	ENST00000261377.11	protein_coding	5/19			chr16	TogoVar
RFC1_chr4_39282456_39371362	39329127	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0148 a0001c0002t0002g0148	1	276	0.0036	25	c.332 others(42): Show c.332-1396_332-1372dupTTTTTTTTTTTTTTTTTTTTTTTTT	RFC1	ENSG00000035928.17	transcript	ENST00000349703.7	protein_coding	4/24			chr4	TogoVar
RFC1_chr4_39282456_39371362	39341719	T T	TTTTTCTC others(18): Show TTTTTCTCCTAGGATGACAATATAAC	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0210	1	276	0.0036	25	c.331 others(40): Show c.331+601_331+625dupGTTATATTGTCATCCTAGGAGAAAA	RFC1	ENSG00000035928.17	transcript	ENST00000349703.7	protein_coding	4/24			chr4	TogoVar
RFC1_chr4_39282456_39371362	39348424	A A	AAAAAGAA others(18): Show AAAAAGAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03225.hp1 HG02257.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0262 a0001c0001t0001g0237 a0001c0001t0001g0262	2	276	0.0073	25	c.132 others(42): Show c.132+2899_132+2923dupCTTTTCTTTTCTTTTCTTTTCTTTT	RFC1	ENSG00000035928.17	transcript	ENST00000349703.7	protein_coding	2/24			chr4	TogoVar
RFLNA_chr12_124290093_124321024	124310172	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 NA18975.hp2 HG02258.hp1 NA18975.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0002c0005t0005 a0001c0001t0001 a0002c0005t0005	a0001c0001t0001g0322 a0002c0005t0005g0053 a0001c0001t0001g0322 a0002c0005t0005g0053	2	388	0.0052	25	c.208 others(42): Show c.208-1622_208-1621insAAAAAAAAAAAAAAAAAAAAAAAAA	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
RFTN1_chr3_16310845_16518699	16345301	T T	TGTGTGTG others(18): Show TGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0171 a0002c0003t0004g0171	1	268	0.0037	25	c.114 others(46): Show c.1146+12630_1146+12631insCACACACACACACACACACACACA C	RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding	7/9			chr3	TogoVar
RFTN1_chr3_16310845_16518699	16403718	A A	ATATATAA others(18): Show ATATATAATATATTTTATATATATTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00438.hp1 HG00597.hp1 others(51): Show HG00099.hp2 HG00438.hp1 HG00597.hp1 HG01069.hp2 HG01106.hp2 HG01123.hp2 HG01261.hp2 HG01346.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp2 HG01981.hp1 HG01993.hp2 HG02015.hp1 HG02056.hp2 HG02074.hp1 HG02257.hp1 HG02273.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG03195.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03710.hp2 NA18612.hp2 NA18946.hp2 NA18948.hp1 NA18949.hp2 NA18950.hp1 NA18952.hp2 NA18954.hp2 NA18955.hp1 NA18964.hp1 NA18966.hp2 NA18977.hp1 NA18979.hp2 NA18983.hp2 NA18984.hp2 NA18986.hp2 NA19004.hp2 NA19007.hp2 NA19066.hp1 NA19070.hp1 NA19082.hp1 NA19084.hp2 NA19087.hp2 NA19091.hp2 NA20805.hp2	a0001 a0002 a0008 others(1): Show a0001 a0002 a0008 a0009	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0008c0010 a0009c0014	a0001c0001t0001 a0001c0002t0002 a0001c0002t0005 others(7): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0008 a0002c0003t0001 a0002c0003t0003 a0002c0003t0004 a0002c0003t0006 a0008c0010t0001 a0009c0014t0001	a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0013 others(51): Show a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0013 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0057 a0001c0001t0001g0065 a0001c0001t0001g0073 a0001c0001t0001g0079 a0001c0001t0001g0092 a0001c0001t0001g0126 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0149 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0158 a0001c0001t0001g0163 a0001c0001t0001g0183 a0001c0001t0001g0190 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0221 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0238 a0001c0001t0001g0263 a0001c0002t0002g0005 a0001c0002t0002g0033 a0001c0002t0002g0077 a0001c0002t0002g0080 a0001c0002t0002g0081 a0001c0002t0002g0096 a0001c0002t0002g0131 a0001c0002t0002g0156 a0001c0002t0002g0198 a0001c0002t0002g0199 a0001c0002t0002g0229 a0001c0002t0002g0258 a0001c0002t0002g0259 a0001c0002t0002g0264 a0001c0002t0005g0214 a0001c0002t0008g0152 a0001c0002t0008g0182 a0002c0003t0001g0134 a0002c0003t0003g0049 a0002c0003t0003g0246 a0002c0003t0004g0170 a0002c0003t0006g0169 a0008c0010t0001g0151 a0009c0014t0001g0157	54	268	0.2015	25	c.441 others(42): Show c.441+5656_441+5657insAAATATATATAAAATATATTATATA	RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding	4/9			chr3	TogoVar
RFTN2_chr2_197563224_197680587	197625699	C C	CTCTCCTC others(18): Show CTCTCCTCTCCTCTCCTCTCCTCTCT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02027.hp1 HG02622.hp1 others(3): Show HG01884.hp1 HG02027.hp1 HG02622.hp1 NA18948.hp2 NA18949.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0009 a0001c0001t0022	a0001c0001t0001g0125 a0001c0001t0002g0119 a0001c0001t0003g0068 others(3): Show a0001c0001t0001g0125 a0001c0001t0002g0119 a0001c0001t0003g0068 a0001c0001t0007g0101 a0001c0001t0009g0053 a0001c0001t0022g0091	6	312	0.0192	25	c.928 others(42): Show c.928+5311_928+5312insAGAGAGGAGAGGAGAGGAGAGGAGA	RFTN2	ENSG00000162944.11	transcript	ENST00000295049.9	protein_coding	5/8			chr2	TogoVar
RFX2_chr19_5988164_6115500	5990541	A A	AGGGGCGG others(18): Show AGGGGCGGGGCGGGGCGGGGCGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 NA19030.hp1 HG03453.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0245 a0001c0001t0009g0291 a0001c0001t0009g0245 a0001c0001t0009g0291	2	308	0.0065	25	c.42 others(36): Show c.4293_*4294insGCCCCGCCCCGCCCCGCCCCGCCCC	RFX2	ENSG00000087903.13	transcript	ENST00000303657.10	protein_coding		2622		chr19	TogoVar
RFX3_chr9_3213297_3531001	3504856	T T	TATTATAT others(18): Show TATTATATATATTATATATAATATTA	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0090 a0001c0001t0004g0090	1	196	0.0051	25	c.-9+ others(42): Show c.-9+20890_-9+20891insTAATATTATATATAATATATATAAT	RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	1/16			chr9	TogoVar
RFX3_chr9_3213297_3531001	3504965	A A	AATATATA others(18): Show AATATATATTATATAATATATATGTT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01255.hp2 HG02300.hp1 HG01081.hp1 HG01255.hp2 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0087 a0001c0001t0001g0101 a0001c0001t0001g0102	3	196	0.0153	25	c.-9+ others(42): Show c.-9+20757_-9+20781dupAACATATATATTATATAATATATAT	RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	1/16			chr9	TogoVar
RFX3_chr9_3213297_3531001	3505439	T T	TTATATTT others(18): Show TTATATTTATATAAAATAAAATACTC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0067 a0001c0001t0038g0067	1	196	0.0051	25	c.-9+ others(42): Show c.-9+20307_-9+20308insGAGTATTTTATTTTATATAAATATA	RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	1/16			chr9	TogoVar
RGMA_chr15_93030271_93094211	93038569	G G	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01433.hp1 HG02486.hp2 HG01433.hp1 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0221 a0001c0002t0120 a0001c0001t0221 a0001c0002t0120	a0001c0001t0221g0258 a0001c0002t0120g0058 a0001c0001t0221g0258 a0001c0002t0120g0058	2	414	0.0048	25	c.64 others(36): Show c.6428_*6429insAAAAAAAAAAAAAAAAAAAAAAAAA	RGMA	ENSG00000182175.15	transcript	ENST00000329082.12	protein_coding	4/4	6428		chr15	TogoVar
RGPD1_chr2_86937118_87018976	86942542	C C	CGGCGGCG others(18): Show CGGCGGCGGCGGCCTCGACCTGGCCG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00558.hp1 others(9): Show HG00099.hp2 HG00280.hp2 HG00558.hp1 HG00642.hp2 HG01069.hp2 HG02083.hp2 HG02300.hp2 NA18943.hp2 NA18961.hp2 NA18982.hp2 NA19057.hp2 NA19058.hp2	a0001 a0005 a0011 a0001 a0005 a0011	a0001c0001 a0005c0005 a0011c0012 a0001c0001 a0005c0005 a0011c0012	a0001c0001t0002 a0001c0001t0009 a0001c0001t0010 others(2): Show a0001c0001t0002 a0001c0001t0009 a0001c0001t0010 a0005c0005t0002 a0011c0012t0002	a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0094 others(9): Show a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0101 a0001c0001t0009g0091 a0001c0001t0010g0100 a0005c0005t0002g0102 a0011c0012t0002g0093	12	102	0.1177	25	c.72+ others(38): Show c.72+252_72+253insCTGGCCGGGCGGCGGCGGCCTCGAC	RGPD1	ENSG00000187627.18	transcript	ENST00000641458.2	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
RGPD2_chr2_87750960_87830796	87824831	C C	CGCCGCCG others(18): Show CGCCGCCGCCGCCCGGCCAGGCCGAG	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	176	0.0057	25	c.72+ others(38): Show c.72+802_72+826dupCTCGGCCTGGCCGGGCGGCGGCGGC	RGPD2	ENSG00000185304.16	transcript	ENST00000398146.5	protein_coding	1/22			chr2	TogoVar
RGPD4_chr2_107821892_107897544	107827489	A A	AGGCAGCG others(18): Show AGGCAGCGGCCTCGACCTGGCCGGGC	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG03098.hp1 HG02897.hp1 HG03098.hp1	a0006 a0022 a0006 a0022	a0006c0007 a0022c0030 a0006c0007 a0022c0030	a0006c0007t0005 a0022c0030t0014 a0006c0007t0005 a0022c0030t0014	a0006c0007t0005g0210 a0022c0030t0014g0182 a0006c0007t0005g0210 a0022c0030t0014g0182	2	374	0.0054	25	c.72+ others(38): Show c.72+407_72+408insAGCGGCCTCGACCTGGCCGGGCGGC	RGPD4	ENSG00000196862.10	transcript	ENST00000408999.4	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
RGPD4_chr2_107821892_107897544	107827501	C C	CGACCTGG others(18): Show CGACCTGGCTGGGCGGCGGCGGCCTG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0025 a0025	a0025c0041 a0025c0041	a0025c0041t0039 a0025c0041t0039	a0025c0041t0039g0334 a0025c0041t0039g0334	1	374	0.0027	25	c.72+ others(38): Show c.72+420_72+421insTGGCTGGGCGGCGGCGGCCTGGACC	RGPD4	ENSG00000196862.10	transcript	ENST00000408999.4	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
RGPD4_chr2_107821892_107897544	107827579	A A	AGGCAGCG others(18): Show AGGCAGCGGCCTCGACCTGGCCGGGC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01099.hp2 HG01361.hp2 others(3): Show HG00099.hp2 HG01099.hp2 HG01361.hp2 HG01516.hp2 HG01952.hp2 HG04115.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0003 a0003c0002t0003	a0003c0002t0003g0081 a0003c0002t0003g0082 a0003c0002t0003g0083 others(3): Show a0003c0002t0003g0081 a0003c0002t0003g0082 a0003c0002t0003g0083 a0003c0002t0003g0084 a0003c0002t0003g0085 a0003c0002t0003g0086	6	374	0.0160	25	c.72+ others(38): Show c.72+497_72+498insAGCGGCCTCGACCTGGCCGGGCGGC	RGPD4	ENSG00000196862.10	transcript	ENST00000408999.4	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
RGPD4_chr2_107821892_107897544	107827796	C C	CGACCTGG others(18): Show CGACCTGGCCGGGCGGCGGCAGCCTG	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01257.hp1 HG02630.hp2 others(14): Show HG01175.hp2 HG01257.hp1 HG02630.hp2 HG02683.hp2 HG02723.hp1 HG03041.hp2 HG03098.hp2 HG03453.hp1 HG03453.hp2 HG03491.hp1 HG03704.hp1 HG04204.hp1 NA18906.hp2 NA18974.hp2 NA18993.hp2 NA19079.hp1 NA21309.hp2	a0003 a0016 a0035 others(3): Show a0003 a0016 a0035 a0036 a0038 a0059	a0003c0002 a0003c0013 a0003c0066 others(5): Show a0003c0002 a0003c0013 a0003c0066 a0016c0023 a0035c0062 a0036c0064 a0038c0065 a0059c0075	a0003c0002t0003 a0003c0002t0017 a0003c0002t0025 others(7): Show a0003c0002t0003 a0003c0002t0017 a0003c0002t0025 a0003c0013t0003 a0003c0066t0026 a0016c0023t0011 a0035c0062t0003 a0036c0064t0003 a0038c0065t0003 a0059c0075t0006	a0003c0002t0003g0018 a0003c0002t0003g0059 a0003c0002t0003g0061 others(14): Show a0003c0002t0003g0018 a0003c0002t0003g0059 a0003c0002t0003g0061 a0003c0002t0003g0077 a0003c0002t0003g0180 a0003c0002t0017g0025 a0003c0002t0017g0181 a0003c0002t0025g0013 a0003c0013t0003g0063 a0003c0013t0003g0075 a0003c0013t0003g0076 a0003c0066t0026g0053 a0016c0023t0011g0060 a0035c0062t0003g0074 a0036c0064t0003g0066 a0038c0065t0003g0017 a0059c0075t0006g0065	17	374	0.0455	25	c.72+ others(38): Show c.72+715_72+716insTGGCCGGGCGGCGGCAGCCTGGACC	RGPD4	ENSG00000196862.10	transcript	ENST00000408999.4	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
RGPD4_chr2_107821892_107897544	107828309	A A	AGGCAGCG others(18): Show AGGCAGCGGCCTCGACCTGGCCGGGC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01106.hp2 HG01255.hp2 others(10): Show HG00642.hp1 HG01106.hp2 HG01255.hp2 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG02004.hp2 HG02040.hp2 HG02293.hp1 HG02523.hp2 NA18747.hp1 NA19006.hp2 NA19083.hp1	a0001 a0018 a0001 a0018	a0001c0001 a0001c0040 a0018c0018 a0001c0001 a0001c0040 a0018c0018	a0001c0001t0001 a0001c0001t0010 a0001c0040t0001 others(1): Show a0001c0001t0001 a0001c0001t0010 a0001c0040t0001 a0018c0018t0001	a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 others(10): Show a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0257 a0001c0001t0001g0311 a0001c0001t0010g0229 a0001c0040t0001g0256 a0018c0018t0001g0252 a0018c0018t0001g0255	13	374	0.0348	25	c.72+ others(40): Show c.72+1227_72+1228insAGCGGCCTCGACCTGGCCGGGCGGC	RGPD4	ENSG00000196862.10	transcript	ENST00000408999.4	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
RGPD4_chr2_107821892_107897544	107828399	A A	AGGCGGCG others(18): Show AGGCGGCGGCCTGGACCTGGCCGGGC	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG03491.hp2 NA20129.hp2 HG01257.hp1 HG03491.hp2 NA20129.hp2	a0003 a0004 a0003 a0004	a0003c0002 a0004c0004 a0003c0002 a0004c0004	a0003c0002t0003 a0004c0004t0002 a0003c0002t0003 a0004c0004t0002	a0003c0002t0003g0077 a0004c0004t0002g0102 a0004c0004t0002g0103 a0003c0002t0003g0077 a0004c0004t0002g0102 a0004c0004t0002g0103	3	374	0.0080	25	c.72+ others(40): Show c.72+1325_72+1326insGGACCTGGCCGGGCGGCGGCGGCCT	RGPD4	ENSG00000196862.10	transcript	ENST00000408999.4	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
RGPD4_chr2_107821892_107897544	107828489	A A	AGGCGGCG others(18): Show AGGCGGCGGCCTGGACCTGGCCGGGC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0046 a0046	a0046c0058 a0046c0058	a0046c0058t0036 a0046c0058t0036	a0046c0058t0036g0006 a0046c0058t0036g0006	1	374	0.0027	25	c.72+ others(40): Show c.72+1415_72+1416insGGACCTGGCCGGGCGGCGGCGGCCT	RGPD4	ENSG00000196862.10	transcript	ENST00000408999.4	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
RGPD4_chr2_107821892_107897544	107828809	A A	AGGCAGCG others(18): Show AGGCAGCGGCCTCGACCTGGCCAGGC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0025 a0025	a0025c0041 a0025c0041	a0025c0041t0039 a0025c0041t0039	a0025c0041t0039g0334 a0025c0041t0039g0334	1	374	0.0027	25	c.72+ others(40): Show c.72+1727_72+1728insAGCGGCCTCGACCTGGCCAGGCGGC	RGPD4	ENSG00000196862.10	transcript	ENST00000408999.4	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
RGPD4_chr2_107821892_107897544	107828809	A A	AGGCAGCG others(18): Show AGGCAGCGGCCTCGACCTGGCCGGGC	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01255.hp2 HG01943.hp2 others(11): Show HG01106.hp2 HG01255.hp2 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG02004.hp2 HG02040.hp2 HG02293.hp1 HG02523.hp2 NA18747.hp1 NA18947.hp1 NA19006.hp2 NA19057.hp2 NA19068.hp2	a0001 a0018 a0001 a0018	a0001c0001 a0001c0040 a0018c0018 a0001c0001 a0001c0040 a0018c0018	a0001c0001t0001 a0001c0040t0001 a0018c0018t0001 a0001c0001t0001 a0001c0040t0001 a0018c0018t0001	a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 others(11): Show a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0257 a0001c0001t0001g0306 a0001c0001t0001g0311 a0001c0001t0001g0328 a0001c0001t0001g0330 a0001c0040t0001g0256 a0018c0018t0001g0252 a0018c0018t0001g0255	14	374	0.0374	25	c.72+ others(40): Show c.72+1727_72+1728insAGCGGCCTCGACCTGGCCGGGCGGC	RGPD4	ENSG00000196862.10	transcript	ENST00000408999.4	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
RGPD5_chr2_109789305_109862705	109823546	C C	CCTTTTCT others(18): Show CCTTTTCTTTTCTTTTCTTTTCTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG02027.hp2 others(3): Show HG00140.hp2 HG00323.hp1 HG02027.hp2 HG02080.hp2 NA18943.hp2 NA20805.hp1	a0001 a0002 a0011 others(2): Show a0001 a0002 a0011 a0016 a0017	a0001c0001 a0002c0002 a0011c0014 others(2): Show a0001c0001 a0002c0002 a0011c0014 a0016c0020 a0017c0019	a0001c0001t0001 a0002c0002t0003 a0011c0014t0003 others(2): Show a0001c0001t0001 a0002c0002t0003 a0011c0014t0003 a0016c0020t0012 a0017c0019t0003	a0001c0001t0001g0008 a0002c0002t0003g0005 a0002c0002t0003g0023 others(3): Show a0001c0001t0001g0008 a0002c0002t0003g0005 a0002c0002t0003g0023 a0011c0014t0003g0002 a0016c0020t0012g0029 a0017c0019t0003g0012	6	40	0.1500	25	c.127 others(42): Show c.1277-672_1277-648dupTTCTTTTCTTTTCTTTTCTTTTCTT	RGPD5	ENSG00000015568.13	transcript	ENST00000016946.8	protein_coding	9/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
RGPD8_chr2_112363369_112438645	112365489	G G	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0002 a0007c0008t0002	a0007c0008t0002g0210 a0007c0008t0002g0210	1	254	0.0039	25	c.46 others(36): Show c.4688_*4689insAAAAAAAAAAAAAAAAAAAAAAAAA	RGPD8	ENSG00000169629.12	transcript	ENST00000302558.8	protein_coding		2879		chr2	TogoVar
RGPD8_chr2_112363369_112438645	112402495	C C	CAAGAAAA others(18): Show CAAGAAAAGAAAAGAAAAGAAAAGAA	intron_variant intron_variant	MODIFIER	HG03710.hp1 NA18954.hp1 HG03710.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0015 a0001c0001t0003 a0001c0001t0015	a0001c0001t0003g0142 a0001c0001t0015g0195 a0001c0001t0003g0142 a0001c0001t0015g0195	2	254	0.0079	25	c.127 others(42): Show c.1277-672_1277-648dupTTCTTTTCTTTTCTTTTCTTTTCTT	RGPD8	ENSG00000169629.12	transcript	ENST00000302558.8	protein_coding	9/22			chr2	TogoVar
RGS12_chr4_3288021_3444913	3355907	A A	ATACAAAA others(18): Show ATACAAAAATCAATTGTATATACATT	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0007 a0004c0008t0001g0007	1	312	0.0032	25	c.199 others(46): Show c.1998+12857_1998+12881dupCAAAAATCAATTGTATATACATTT A	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RGS12_chr4_3288021_3444913	3375727	C C	CCCTCATC others(18): Show CCCTCATCTCCAGCCCTCATCTCCAG	intron_variant intron_variant	MODIFIER	HG06807.hp2 NA19043.hp2 HG06807.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0001 a0001c0002t0001 a0001c0004t0001	a0001c0002t0001g0269 a0001c0004t0001g0268 a0001c0002t0001g0269 a0001c0004t0001g0268	2	312	0.0064	25	c.199 others(46): Show c.1999-10674_1999-10650dupCTCATCTCCAGCCTCATCTCCAGC C	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RGS17_chr6_152999459_153136282	153116223	C C	CAAGAAAA others(18): Show CAAGAAAAAAGCAAACAACCCCATCA	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0101 a0001c0001t0002g0101	1	338	0.0030	25	c.-26 others(44): Show c.-26+14876_-26+14900dupTGATGGGGTTGTTTGCTTTTTTCTT	RGS17	ENSG00000091844.8	transcript	ENST00000206262.2	protein_coding	1/4			chr6	TogoVar
RGS20_chr8_53846795_53964303	53948883	C C	CTATATAA others(18): Show CTATATAAGATACAGTATATATTTAT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0094 a0001c0001t0002g0094	1	258	0.0039	25	c.743 others(42): Show c.743+2135_743+2136insTATATAAGATACAGTATATATTTAT	RGS20	ENSG00000147509.14	transcript	ENST00000297313.8	protein_coding	4/5			chr8	TogoVar
RGS2_chr1_192804039_192817275	192816402	C C	CAGCTCAG others(18): Show CAGCTCAGGGGAGCTCAGAGAGTTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0012	1	430	0.0023	25	c.48 others(36): Show c.4806_*4807insAGCTCAGGGGAGCTCAGAGAGTTGA	RGS2	ENSG00000116741.8	transcript	ENST00000235382.7	protein_coding		4128		chr1	TogoVar
RGS5_chr1_163137299_163207916	163180686	G G	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19090.hp2 NA19004.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0041 a0001c0001t0001 a0001c0001t0041	a0001c0001t0001g0216 a0001c0001t0041g0259 a0001c0001t0001g0216 a0001c0001t0041g0259	2	322	0.0062	25	c.45- others(42): Show c.45-12343_45-12319dupAAAAAAAAAAAAAAAAAAAAAAAAA	RGS5	ENSG00000143248.13	transcript	ENST00000313961.10	protein_coding	1/4			chr1	TogoVar
RGS6_chr14_71927429_72571530	72005467	A A	ATCTAATC others(18): Show ATCTAATCTATCTATCTATCTATCTG	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0093 a0001c0001t0042g0093	1	130	0.0077	25	c.84+ others(42): Show c.84+40593_84+40594insCTAATCTATCTATCTATCTATCTGT	RGS6	ENSG00000182732.18	transcript	ENST00000553525.6	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr14	TogoVar
RGS6_chr14_71927429_72571530	72037970	A A	ATTATTTT others(18): Show ATTATTTTATTTTATTTTATTTTATT	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02622.hp1 HG02897.hp1 others(1): Show HG01981.hp1 HG02622.hp1 HG02897.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0013 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0013 a0001c0001t0023	a0001c0001t0001g0016 a0001c0001t0006g0119 a0001c0001t0013g0043 others(1): Show a0001c0001t0001g0016 a0001c0001t0006g0119 a0001c0001t0013g0043 a0001c0001t0023g0054	4	130	0.0308	25	c.84+ others(42): Show c.84+73112_84+73113insATTTTATTTTATTTTATTTTATTTT	RGS6	ENSG00000182732.18	transcript	ENST00000553525.6	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr14	TogoVar

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