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
RIMKLA_chr1_42375792_42429232	42385842	T T	TCTCTTTC others(12): Show TCTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0255 a0001c0002t0002g0255	1	356	0.0028	19	c.163 others(36): Show c.163+4745_163+4746insCTCTTTCTTTCTTTCTTTC	RIMKLA	ENSG00000177181.15	transcript	ENST00000431473.4	protein_coding	1/4			chr1	TogoVar
RIMKLB_chr12_8692991_8782191	8757470	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02145.hp2 HG02572.hp2 HG02055.hp2 HG02145.hp2 HG02572.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0245 a0001c0002t0006g0246 a0001c0002t0006g0253 a0001c0002t0006g0245 a0001c0002t0006g0246 a0001c0002t0006g0253	3	294	0.0102	19	c.697 others(36): Show c.697+3378_697+3396dupAAAAAAAAAAAAAAAAAAA	RIMKLB	ENSG00000166532.16	transcript	ENST00000535829.6	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
RIMOC1_chr5_41899344_41926636	41901253	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00621.hp1 HG01192.hp2 others(11): Show HG00280.hp2 HG00621.hp1 HG01192.hp2 HG01952.hp2 HG02074.hp1 HG02300.hp2 HG03239.hp1 HG04204.hp1 NA18954.hp1 NA18969.hp2 NA18998.hp2 NA19012.hp1 NA19012.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(6): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0002g0004	14	318	0.0440	19	c.-31 others(30): Show c.-3115_-3114insTTTTTTTTTTTTTTTTTTT	RIMOC1	ENSG00000205765.10	transcript	ENST00000381647.7	protein_coding		3090		chr5	TogoVar
RIMS2_chr8_103495610_104259430	103559056	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01361.hp1 HG01516.hp2 others(7): Show HG01106.hp1 HG01361.hp1 HG01516.hp2 HG01928.hp1 HG02602.hp2 HG02683.hp1 HG03710.hp2 HG03942.hp2 NA19056.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0019 others(1): Show a0001c0001 a0001c0003 a0001c0019 a0002c0002	a0001c0001t0002 a0001c0001t0004 a0001c0003t0001 others(3): Show a0001c0001t0002 a0001c0001t0004 a0001c0003t0001 a0001c0003t0009 a0001c0019t0009 a0002c0002t0002	a0001c0001t0002g0167 a0001c0001t0004g0152 a0001c0001t0004g0153 others(7): Show a0001c0001t0002g0167 a0001c0001t0004g0152 a0001c0001t0004g0153 a0001c0003t0001g0160 a0001c0003t0001g0165 a0001c0003t0009g0158 a0001c0019t0009g0161 a0002c0002t0002g0034 a0002c0002t0002g0162 a0002c0002t0002g0166	10	172	0.0581	19	c.176 others(38): Show c.176+58006_176+58007insTTTTTTTTTTTTTTTTTTT	RIMS2	ENSG00000176406.25	transcript	ENST00000696799.1	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr8	TogoVar
RIMS2_chr8_103495610_104259430	103895104	C C	CAATTTAT others(12): Show CAATTTATTATAGGAAATAA	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0002 a0002	a0002c0021 a0002c0021	a0002c0021t0002 a0002c0021t0002	a0002c0021t0002g0163 a0002c0021t0002g0163	1	172	0.0058	19	c.175 others(38): Show c.1756+8886_1756+8904dupTATTATAGGAAATAAAATT	RIMS2	ENSG00000176406.25	transcript	ENST00000696799.1	protein_coding	7/29		INFO_REALIGN_3_PRIME	chr8	TogoVar
RIMS3_chr1_40615680_40670682	40617239	A A	ATCCTTTT others(12): Show ATCCTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02723.hp1 HG02897.hp1 others(2): Show HG02559.hp1 HG02723.hp1 HG02897.hp1 HG03453.hp2 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0008 a0001c0001t0015 others(1): Show a0001c0001t0005 a0001c0001t0008 a0001c0001t0015 a0001c0001t0033	a0001c0001t0005g0288 a0001c0001t0008g0033 a0001c0001t0008g0247 others(2): Show a0001c0001t0005g0288 a0001c0001t0008g0033 a0001c0001t0008g0247 a0001c0001t0015g0210 a0001c0001t0033g0246	5	376	0.0133	19	c.92 others(30): Show c.9277_*9278insAAAAAAAAAAAAAAAAGGA	RIMS3	ENSG00000117016.10	transcript	ENST00000372684.8	protein_coding		3440		chr1	TogoVar
RIMS3_chr1_40615680_40670682	40617242	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	376	0.0027	19	c.92 others(30): Show c.9274_*9275insAAAAAAAAAAAAAAAAAAA	RIMS3	ENSG00000117016.10	transcript	ENST00000372684.8	protein_coding		3437		chr1	TogoVar
RIMS3_chr1_40615680_40670682	40670609	T T	TATATATA others(12): Show TATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0132 a0001c0001t0042g0132	1	376	0.0027	19	c.-54 others(30): Show c.-5423_-5422insTATATATATATATATATAT	RIMS3	ENSG00000117016.10	transcript	ENST00000372684.8	protein_coding		4928		chr1	TogoVar
RIN2_chr20_19753258_20007456	19788432	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0034 a0001c0002t0034	a0001c0002t0034g0257 a0001c0002t0034g0257	1	276	0.0036	19	c.-16 others(40): Show c.-162-11173_-162-11172insAAAAAAAAAAAAAAAAAAA	RIN2	ENSG00000132669.14	transcript	ENST00000255006.12	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
RIN2_chr20_19753258_20007456	19923425	T T	TAAATAAA others(12): Show TAAATAAAATAAATAAAATA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0013 a0002c0004t0013	a0002c0004t0013g0057 a0002c0004t0013g0057	1	276	0.0036	19	c.58- others(36): Show c.58-11662_58-11661insTAAAATAAAATAAAATAAA	RIN2	ENSG00000132669.14	transcript	ENST00000255006.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
RIN3_chr14_92508781_92693994	92561044	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02976.hp1 HG06807.hp2 HG01496.hp1 HG02976.hp1 HG06807.hp2	a0003 a0004 a0025 a0003 a0004 a0025	a0003c0025 a0004c0018 a0025c0033 a0003c0025 a0004c0018 a0025c0033	a0003c0025t0001 a0004c0018t0001 a0025c0033t0001 a0003c0025t0001 a0004c0018t0001 a0025c0033t0001	a0003c0025t0001g0003 a0004c0018t0001g0029 a0025c0033t0001g0173 a0003c0025t0001g0003 a0004c0018t0001g0029 a0025c0033t0001g0173	3	334	0.0090	19	c.249 others(36): Show c.249+5089_249+5090insTATATATATATATATATAT	RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	2/9			chr14	TogoVar
RINT1_chr7_105527201_105572677	105570240	A A	AAATATAT others(12): Show AAATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0247	1	368	0.0027	19	c.29 others(30): Show c.2929_*2930insAATATATATATATATATAT	RINT1	ENSG00000135249.8	transcript	ENST00000257700.7	protein_coding		2564		chr7	TogoVar
RIOK3_chr18_23448287_23488140	23469377	C C	CTCTCTCC others(12): Show CTCTCTCCCCCTCTCTCCCT	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	402	0.0025	19	c.815 others(36): Show c.815+1851_815+1852insTCTCTCCCCCTCTCTCCCT	RIOK3	ENSG00000101782.15	transcript	ENST00000339486.8	protein_coding	7/12			chr18	TogoVar
RIOX2_chr3_97936818_97977431	97972611	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG02257.hp2 HG03017.hp1 others(2): Show HG01243.hp1 HG02257.hp2 HG03017.hp1 HG03017.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0188 a0001c0001t0001g0190 others(2): Show a0001c0001t0001g0035 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0202 a0001c0001t0001g0207	5	370	0.0135	19	c.-27 others(28): Show c.-271_-270insAAAAAAAAAAAAAAAAAAA	RIOX2	ENSG00000170854.18	transcript	ENST00000394198.7	protein_coding		181		chr3	TogoVar
RIPK2_chr8_89752816_89796064	89753748	A A	ATATTAAT others(12): Show ATATTAATATATAAATATAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00408.hp1 HG00639.hp1 others(81): Show HG00323.hp1 HG00408.hp1 HG00639.hp1 HG00642.hp1 HG00735.hp1 HG01081.hp2 HG01257.hp2 HG01258.hp1 HG01515.hp1 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02109.hp1 HG02135.hp2 HG02145.hp2 HG02257.hp2 HG02486.hp1 HG02523.hp1 HG02630.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02922.hp2 HG02976.hp1 HG03130.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03239.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03704.hp1 HG03927.hp1 HG04204.hp2 HG06807.hp2 NA18522.hp2 NA18906.hp2 NA18943.hp1 NA18943.hp2 NA18947.hp1 NA18949.hp1 NA18951.hp2 NA18952.hp2 NA18957.hp1 NA18961.hp2 NA18966.hp1 NA18973.hp2 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18989.hp2 NA18990.hp2 NA18992.hp2 NA18997.hp2 NA19002.hp2 NA19030.hp1 NA19062.hp1 NA19065.hp2 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19077.hp1 NA19086.hp1 NA19087.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0008 a0001c0001 a0001c0005 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0005t0002 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0005t0002 a0001c0008t0002	a0001c0001t0001g0009 a0001c0001t0001g0115 a0001c0001t0001g0181 others(44): Show a0001c0001t0001g0009 a0001c0001t0001g0115 a0001c0001t0001g0181 a0001c0001t0002g0006 a0001c0001t0002g0010 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0041 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0138 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0005t0002g0014 a0001c0005t0002g0042 a0001c0005t0002g0116 a0001c0008t0002g0139	84	380	0.2211	19	c.-43 others(30): Show c.-4313_-4312insTATTAATATATAAATATAG	RIPK2	ENSG00000104312.8	transcript	ENST00000220751.5	protein_coding		4067		chr8	TogoVar
RIPK2_chr8_89752816_89796064	89753748	A A	ATATTAAT others(12): Show ATATTAATATATAAATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 NA19030.hp2 NA20129.hp1 HG01167.hp2 NA19030.hp2 NA20129.hp1	a0002 a0004 a0002 a0004	a0002c0004 a0004c0007 a0002c0004 a0004c0007	a0002c0004t0001 a0004c0007t0003 a0002c0004t0001 a0004c0007t0003	a0002c0004t0001g0021 a0004c0007t0003g0069 a0004c0007t0003g0070 a0002c0004t0001g0021 a0004c0007t0003g0069 a0004c0007t0003g0070	3	380	0.0079	19	c.-43 others(30): Show c.-4313_-4312insTATTAATATATAAATATAT	RIPK2	ENSG00000104312.8	transcript	ENST00000220751.5	protein_coding		4067		chr8	TogoVar
RIPK3_chr14_24331025_24344991	24333611	T T	TTTTCTTA others(12): Show TTTTCTTATCTGTCAAACGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	428	0.0023	19	c.25 others(30): Show c.2545_*2563dupCCGTTTGACAGATAAGAAA	RIPK3	ENSG00000129465.16	transcript	ENST00000216274.10	protein_coding		2413		chr14	TogoVar
RIPOR2_chr6_24799284_24940960	24927044	C C	CACCACCA others(12): Show CACCACCACCACAACTACAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00423.hp1 HG00642.hp2 others(14): Show HG00323.hp2 HG00423.hp1 HG00642.hp2 HG01109.hp2 HG01257.hp1 HG01496.hp2 HG01934.hp1 HG01975.hp2 HG01993.hp1 HG02129.hp2 HG02148.hp1 HG02148.hp2 HG02258.hp1 HG02630.hp1 HG02738.hp1 HG02976.hp1 NA18952.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0011	a0001c0001 a0001c0003 a0002c0002 others(2): Show a0001c0001 a0001c0003 a0002c0002 a0004c0006 a0011c0017	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 others(8): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0001t0011 a0001c0001t0023 a0001c0001t0025 a0001c0001t0040 a0001c0003t0002 a0002c0002t0005 a0004c0006t0003 a0011c0017t0010	a0001c0001t0001g0132 a0001c0001t0001g0221 a0001c0001t0004g0189 others(14): Show a0001c0001t0001g0132 a0001c0001t0001g0221 a0001c0001t0004g0189 a0001c0001t0004g0219 a0001c0001t0004g0225 a0001c0001t0008g0223 a0001c0001t0011g0128 a0001c0001t0023g0061 a0001c0001t0025g0222 a0001c0001t0040g0220 a0001c0003t0002g0131 a0001c0003t0002g0224 a0002c0002t0005g0112 a0002c0002t0005g0113 a0004c0006t0003g0271 a0011c0017t0010g0252 a0011c0017t0010g0253	17	328	0.0518	19	c.61+ others(34): Show c.61+8793_61+8794insTTGTAGTTGTGGTGGTGGT	RIPOR2	ENSG00000111913.20	transcript	ENST00000643898.2	protein_coding	1/21			chr6	TogoVar
RIPOR3_chr20_50581108_50696542	50679135	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0033 a0002c0002t0001g0033	1	280	0.0036	19	c.3+1 others(34): Show c.3+11990_3+11991insATATATATATATATATATA	RIPOR3	ENSG00000042062.13	transcript	ENST00000327979.8	protein_coding	1/21			chr20	TogoVar
RIT1_chr1_155892808_155916349	155894746	A A	ATGGTACG others(12): Show ATGGTACGGCGGTAGGTGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0071 a0001c0001t0071	a0001c0001t0071g0066 a0001c0001t0071g0066	1	342	0.0029	19	c.56 others(30): Show c.5641_*5642insGGCACCTACCGCCGTACCA	RIT1	ENSG00000143622.12	transcript	ENST00000368323.8	protein_coding		3061		chr1	TogoVar
RIT2_chr18_42738227_43120685	42837153	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0198 a0001c0002t0001g0198	1	240	0.0042	19	c.426 others(38): Show c.426+86400_426+86418dupAAAAAAAAAAAAAAAAAAA	RIT2	ENSG00000152214.14	transcript	ENST00000326695.10	protein_coding	4/4			chr18	TogoVar
RIT2_chr18_42738227_43120685	42929058	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA20300.hp1 NA18963.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0077 a0001c0002t0001g0092 a0001c0001t0001g0077 a0001c0002t0001g0092	2	240	0.0083	19	c.235 others(36): Show c.235-5296_235-5295insTATATATATATATATATAT	RIT2	ENSG00000152214.14	transcript	ENST00000326695.10	protein_coding	3/4			chr18	TogoVar
RIT2_chr18_42738227_43120685	43057798	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02015.hp1 HG01358.hp2 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0124 a0001c0001t0001g0108 a0001c0001t0001g0124	2	240	0.0083	19	c.104 others(38): Show c.104-23932_104-23931insAAAAAAAAAAAAAAAAAAA	RIT2	ENSG00000152214.14	transcript	ENST00000326695.10	protein_coding	1/4			chr18	TogoVar
RLBP1_chr15_89204869_89226579	89205128	T T	TCTCTCTC others(12): Show TCTCTCTCTCTCTCTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp2 NA18946.hp2 HG03491.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0035 a0001c0001t0001g0027 a0001c0001t0001g0035	2	414	0.0048	19	c.51 others(30): Show c.5156_*5157insGAGAGAGAGAGAGAGAGAG	RLBP1	ENSG00000140522.12	transcript	ENST00000268125.10	protein_coding		4740		chr15	TogoVar
RLF_chr1_40156387_40245921	40221899	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02080.hp1 NA19240.hp1 HG02080.hp1 NA19240.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0180 a0004c0004t0001g0181 a0004c0004t0001g0180 a0004c0004t0001g0181	2	338	0.0059	19	c.811 others(34): Show c.811-674_811-656dupAAAAAAAAAAAAAAAAAAA	RLF	ENSG00000117000.9	transcript	ENST00000372771.5	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
RLF_chr1_40156387_40245921	40224623	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	338	0.0030	19	c.947 others(36): Show c.947+1926_947+1944dupTTTTTTTTTTTTTTTTTTT	RLF	ENSG00000117000.9	transcript	ENST00000372771.5	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
RMDN3_chr15_40730887_40760254	40741620	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	404	0.0025	19	c.911 others(36): Show c.911-1446_911-1428dupAAAAAAAAAAAAAAAAAAA	RMDN3	ENSG00000137824.16	transcript	ENST00000338376.8	protein_coding	6/12			chr15	TogoVar
RMND5A_chr2_86715291_86783041	86716899	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	304	0.0033	19	c.-37 others(30): Show c.-3769_-3768insAAAAAAAAAAAAAAAAAAA	RMND5A	ENSG00000153561.13	transcript	ENST00000283632.5	protein_coding		3391		chr2	TogoVar
RMND5B_chr5_178126014_178155568	178144720	G G	GAAAAAAA others(12): Show GAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00673.hp2 HG00733.hp2 others(52): Show HG00642.hp2 HG00673.hp2 HG00733.hp2 HG00735.hp2 HG01069.hp2 HG01071.hp1 HG01081.hp1 HG01106.hp1 HG01109.hp1 HG01168.hp1 HG01169.hp2 HG01346.hp2 HG01433.hp2 HG01496.hp2 HG01516.hp2 HG01517.hp2 HG01952.hp2 HG02015.hp1 HG02015.hp2 HG02083.hp1 HG02132.hp1 HG02155.hp2 HG02280.hp2 HG02486.hp2 HG02717.hp2 HG03139.hp1 HG03209.hp1 HG03491.hp1 HG03942.hp1 HG04115.hp1 HG04228.hp2 NA18940.hp2 NA18941.hp1 NA18945.hp1 NA18947.hp2 NA18948.hp2 NA18950.hp2 NA18952.hp1 NA18956.hp2 NA18959.hp2 NA18962.hp2 NA18964.hp2 NA18966.hp1 NA18967.hp2 NA18975.hp2 NA18980.hp1 NA18984.hp2 NA18990.hp2 NA19030.hp2 NA19067.hp2 NA19080.hp1 NA19087.hp2 NA19088.hp1 NA20129.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0025	a0001c0001t0002g0012 a0001c0001t0003g0003 a0001c0001t0003g0005 others(30): Show a0001c0001t0002g0012 a0001c0001t0003g0003 a0001c0001t0003g0005 a0001c0001t0003g0012 a0001c0001t0003g0038 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0121 a0001c0001t0003g0127 a0001c0001t0003g0130 a0001c0001t0003g0132 a0001c0001t0003g0135 a0001c0001t0003g0138 a0001c0001t0003g0139 a0001c0001t0003g0140 a0001c0001t0003g0141 a0001c0001t0003g0145 a0001c0001t0003g0147 a0001c0001t0003g0148 a0001c0001t0003g0151 a0001c0001t0003g0152 a0001c0001t0008g0228 a0001c0001t0008g0229 a0001c0001t0008g0230 a0001c0001t0010g0155 a0001c0001t0011g0012 a0001c0001t0011g0037 a0001c0001t0011g0122 a0001c0001t0012g0003 a0001c0001t0012g0005 a0001c0001t0014g0037 a0001c0001t0025g0125	55	412	0.1335	19	c.694 others(34): Show c.694+625_694+626insAAAAAAAAAAAAAAAAAAA	RMND5B	ENSG00000145916.19	transcript	ENST00000313386.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
RNASE2_chr14_20950487_20961436	20951921	G G	GAAGGAAG others(12): Show GAAGGAAGGAAGAAGAAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0001 a0001c0002t0002g0001	1	410	0.0024	19	c.-36 others(30): Show c.-3621_-3620insAAGGAAGGAAGAAGAAAGA	RNASE2	ENSG00000169385.3	transcript	ENST00000304625.3	protein_coding		3565		chr14	TogoVar
RNASE6_chr14_20776268_20787467	20780776	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18975.hp2 NA19004.hp1 NA19088.hp1 others(1): Show NA18975.hp2 NA19004.hp1 NA19088.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0001 a0001c0003t0001g0001 a0001c0001t0001g0001 a0001c0003t0001g0001	4	466	0.0086	19	c.-56 others(28): Show c.-568_-567insAAAAAAAAAAAAAAAAAAA	RNASE6	ENSG00000169413.3	transcript	ENST00000304677.3	protein_coding		491		chr14	TogoVar
RNASE8_chr14_21052822_21063455	21062746	T T	TGTGTGTG others(12): Show TGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0000 a0002c0002t0002g0000	1	448	0.0022	19	c.43 others(30): Show c.4389_*4390insGTGTGTGTGTGTGTGTGTG	RNASE8	ENSG00000173431.2	transcript	ENST00000308227.2	protein_coding		4292		chr14	TogoVar
RNASEH2A_chr19_12801584_12818640	12805131	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18950.hp2 NA18986.hp2 NA18950.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	2	412	0.0049	19	c.-15 others(30): Show c.-1543_-1542insAAAAAAAAAAAAAAAAAAA	RNASEH2A	ENSG00000104889.7	transcript	ENST00000221486.6	protein_coding		1452		chr19	TogoVar
RNASET2_chr6_166917113_166961550	166923228	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00558.hp1 HG02572.hp2 HG03209.hp2 others(5): Show HG00558.hp1 HG02572.hp2 HG03209.hp2 HG03225.hp1 HG03516.hp2 HG03704.hp2 NA18995.hp2 NA19009.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0045 a0001c0001t0051 a0001c0001t0098 others(5): Show a0001c0001t0045 a0001c0001t0051 a0001c0001t0098 a0001c0001t0108 a0002c0004t0081 a0002c0004t0085 a0002c0004t0086 a0002c0004t0153	a0001c0001t0045g0023 a0001c0001t0051g0173 a0001c0001t0098g0021 others(5): Show a0001c0001t0045g0023 a0001c0001t0051g0173 a0001c0001t0098g0021 a0001c0001t0108g0049 a0002c0004t0081g0154 a0002c0004t0085g0071 a0002c0004t0086g0042 a0002c0004t0153g0244	8	346	0.0231	19	c.63 others(30): Show c.6341_*6359dupAAAAAAAAAAAAAAAAAAA	RNASET2	ENSG00000026297.17	transcript	ENST00000508775.6	protein_coding	9/9	6359		chr6	TogoVar
RND3_chr2_150463195_150492667	150487474	A A	AAAAAAAT others(12): Show AAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01496.hp2 HG01934.hp1 others(1): Show HG01070.hp2 HG01496.hp2 HG01934.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0014 a0001c0001t0002g0099 a0001c0001t0001g0014 a0001c0001t0002g0099	4	420	0.0095	19	c.-38 others(32): Show c.-38-20_-38-19insATATATATATATATTTTTT	RND3	ENSG00000115963.14	transcript	ENST00000263895.9	protein_coding	1/5			chr2	TogoVar
RND3_chr2_150463195_150492667	150487474	A A	AAAAATAT others(12): Show AAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01516.hp2 HG02135.hp1 others(1): Show HG01106.hp2 HG01516.hp2 HG02135.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0027 a0001c0001t0001g0088 a0001c0001t0007g0087 a0001c0001t0001g0027 a0001c0001t0001g0088 a0001c0001t0007g0087	4	420	0.0095	19	c.-38 others(32): Show c.-38-20_-38-19insATATATATATATATATTTT	RND3	ENSG00000115963.14	transcript	ENST00000263895.9	protein_coding	1/5			chr2	TogoVar
RND3_chr2_150463195_150492667	150487474	A A	AAATATAT others(12): Show AAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01243.hp1 HG01069.hp1 HG01071.hp2 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	3	420	0.0071	19	c.-38 others(32): Show c.-38-20_-38-19insATATATATATATATATATT	RND3	ENSG00000115963.14	transcript	ENST00000263895.9	protein_coding	1/5			chr2	TogoVar
RNF114_chr20_49931397_49958885	49934071	G G	GATATCCT others(12): Show GATATCCTCCAGGATGGACC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19075.hp2 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0193 a0001c0001t0015g0193	1	426	0.0024	19	c.-23 others(30): Show c.-2342_-2341insATATCCTCCAGGATGGACC	RNF114	ENSG00000124226.11	transcript	ENST00000244061.6	protein_coding		2325		chr20	TogoVar
RNF115_chr1_145733868_145829095	145809488	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0197 a0001c0001t0040g0197	1	272	0.0037	19	c.102 others(38): Show c.102+14265_102+14283dupAAAAAAAAAAAAAAAAAAA	RNF115	ENSG00000265491.5	transcript	ENST00000582693.5	protein_coding	1/8			chr1	TogoVar
RNF115_chr1_145733868_145829095	145811908	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0251 a0001c0001t0003g0251	1	272	0.0037	19	c.102 others(38): Show c.102+11863_102+11864insATATATTTTTTTTTTTTTT	RNF115	ENSG00000265491.5	transcript	ENST00000582693.5	protein_coding	1/8			chr1	TogoVar
RNF115_chr1_145733868_145829095	145811908	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02886.hp1 HG02109.hp2 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0207 a0001c0001t0011g0212 a0001c0001t0011g0207 a0001c0001t0011g0212	2	272	0.0074	19	c.102 others(38): Show c.102+11863_102+11864insATATATATTTTTTTTTTTT	RNF115	ENSG00000265491.5	transcript	ENST00000582693.5	protein_coding	1/8			chr1	TogoVar
RNF115_chr1_145733868_145829095	145811908	A A	AAAAAAAA others(12): Show AAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0245 a0001c0001t0003g0245	1	272	0.0037	19	c.102 others(38): Show c.102+11863_102+11864insATATATATATTTTTTTTTT	RNF115	ENSG00000265491.5	transcript	ENST00000582693.5	protein_coding	1/8			chr1	TogoVar
RNF115_chr1_145733868_145829095	145811908	A A	AAAAAAAA others(12): Show AAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00738.hp1 HG01175.hp1 HG00323.hp1 HG00738.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0221 a0001c0001t0003g0234 a0001c0001t0003g0253 a0001c0001t0003g0221 a0001c0001t0003g0234 a0001c0001t0003g0253	3	272	0.0110	19	c.102 others(38): Show c.102+11863_102+11864insATATATATATATTTTTTTT	RNF115	ENSG00000265491.5	transcript	ENST00000582693.5	protein_coding	1/8			chr1	TogoVar
RNF11_chr1_51231273_51278447	51264285	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	274	0.0037	19	c.124 others(36): Show c.124-5671_124-5670insTATATATATATATATATAT	RNF11	ENSG00000123091.5	transcript	ENST00000242719.4	protein_coding	1/2			chr1	TogoVar
RNF126_chr19_642526_668214	642792	G G	GACTCCCA others(12): Show GACTCCCACATCCCAGGAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	434	0.0023	19	c.53 others(30): Show c.5335_*5336insTTTCCTGGGATGTGGGAGT	RNF126	ENSG00000070423.18	transcript	ENST00000292363.10	protein_coding		4733		chr19	TogoVar
RNF130_chr5_179950067_180076759	179998886	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00733.hp1 HG01109.hp2 others(2): Show HG00544.hp2 HG00733.hp1 HG01109.hp2 HG01952.hp1 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0263 a0001c0001t0001g0271 others(2): Show a0001c0001t0001g0250 a0001c0001t0001g0263 a0001c0001t0001g0271 a0001c0001t0001g0286 a0001c0001t0001g0292	5	340	0.0147	19	c.693 others(38): Show c.693+14174_693+14175insTATATATATATATATATAT	RNF130	ENSG00000113269.14	transcript	ENST00000521389.6	protein_coding	3/8			chr5	TogoVar
RNF130_chr5_179950067_180076759	180072040	G G	GGGGAGGG others(12): Show GGGGAGGGGAAGGGCGGCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0328 a0001c0001t0001g0328	1	340	0.0029	19	c.-35 others(28): Show c.-357_-339dupGTGCCGCCCTTCCCCTCCC	RNF130	ENSG00000113269.14	transcript	ENST00000521389.6	protein_coding		282		chr5	TogoVar
RNF135_chr17_30966039_31004911	30983353	A A	ATATATAT others(12): Show ATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0252 a0001c0001t0001g0252	1	266	0.0038	19	c.373 others(36): Show c.373-1263_373-1262insATATATATATATATTTTTT	RNF135	ENSG00000181481.14	transcript	ENST00000328381.10	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF135_chr17_30966039_31004911	30983353	A A	ATATATAT others(12): Show ATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	266	0.0038	19	c.373 others(36): Show c.373-1263_373-1262insATATATATATATTTTTTTT	RNF135	ENSG00000181481.14	transcript	ENST00000328381.10	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF135_chr17_30966039_31004911	30983354	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	266	0.0038	19	c.373 others(36): Show c.373-1263_373-1262insATATATATATATATATATA	RNF135	ENSG00000181481.14	transcript	ENST00000328381.10	protein_coding	1/4			chr17	TogoVar

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