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
RPL10_chrX_154393377_154407332	154396712	A A	ATATATAT others(20): Show ATATATATATATATATATATTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0002 a0002c0002t0004g0002	1	276	0.0036	27	c.-17 others(38): Show c.-1706_-1705insTATATATATATATATATATTTTTTTTT	RPL10	ENSG00000147403.18	transcript	ENST00000369817.7	protein_coding		1664		chrX	TogoVar
RPL10_chrX_154393377_154407332	154396713	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	1	276	0.0036	27	c.-17 others(38): Show c.-1705_-1704insATATATATATATATATATATATATATA	RPL10	ENSG00000147403.18	transcript	ENST00000369817.7	protein_coding		1663		chrX	TogoVar
RPL13A_chr19_49482608_49497308	49493834	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	338	0.0030	27	c.20 others(38): Show c.2019_*2020insTTTTTTTTTTTTTTTTTTTTTTTTTTT	RPL13A	ENSG00000142541.18	transcript	ENST00000391857.9	protein_coding		1527		chr19	TogoVar
RPL14_chr3_40452339_40473587	40470425	A A	AGGGGGGG others(20): Show AGGGGGGGGGGGTGGGGGGGGGGGGGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0001 a0001c0001t0021g0001	1	418	0.0024	27	c.81 others(38): Show c.8193_*8194insGGGGGGGGGGGTGGGGGGGGGGGGGTG	RPL14	ENSG00000188846.14	transcript	ENST00000396203.7	protein_coding		1839		chr3	TogoVar
RPL23_chr17_38842860_38858721	38842866	T T	TATCTATC others(20): Show TATCTATCTATCTATCTATCTATCTATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0006 a0001c0001t0006g0006	1	418	0.0024	27	c.72 others(38): Show c.7265_*7266insGATAGATAGATAGATAGATAGATAGAT	RPL23	ENSG00000125691.14	transcript	ENST00000479035.7	protein_coding		4993		chr17	TogoVar
RPL23_chr17_38842860_38858721	38845112	G G	GTTTTTTT others(20): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0006 a0001c0001t0006g0006	1	418	0.0024	27	c.50 others(38): Show c.5019_*5020insAAAAAAAAAAAAAAAAAAAAAAAAAAA	RPL23	ENSG00000125691.14	transcript	ENST00000479035.7	protein_coding		2747		chr17	TogoVar
RPL26L1_chr5_172954424_172974771	172967802	A A	ATATGACA others(20): Show ATATGACATATAAGTACATATATGTATG	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA19074.hp1 NA18968.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	2	386	0.0052	27	c.169 others(42): Show c.169-645_169-619dupAGTACATATATGTATGTATGACATATA	RPL26L1	ENSG00000037241.7	transcript	ENST00000265100.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
RPL26_chr17_8372516_8388193	8374937	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp2 HG02523.hp2 HG02074.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0023 a0001c0001t0001g0017 a0001c0001t0001g0023	2	422	0.0047	27	c.26 others(38): Show c.2600_*2626dupTTTTTTTTTTTTTTTTTTTTTTTTTTT	RPL26	ENSG00000161970.15	transcript	ENST00000648839.1	protein_coding		2578		chr17	TogoVar
RPL30_chr8_98036721_98050545	98037419	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	448	0.0022	27	c.43 others(38): Show c.4381_*4382insTATATATATATATATATATATATATAT	RPL30	ENSG00000156482.11	transcript	ENST00000287038.8	protein_coding		4301		chr8	TogoVar
RPL38_chr17_74198678_74215655	74209602	A A	AAATATAA others(20): Show AAATATAATAGACCAAGTCTTTTTATCG	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG03130.hp1 NA20129.hp1 HG01099.hp1 HG03130.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0028 a0001c0001t0015g0028	3	446	0.0067	27	c.188 others(42): Show c.188-175_188-149dupGAATATAATAGACCAAGTCTTTTTATC	RPL38	ENSG00000172809.13	transcript	ENST00000311111.11	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPL7_chr8_73285242_73298633	73297744	G G	GAGTTTAT others(20): Show GAGTTTATAAAACATTGGTTGTTCTTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	448	0.0022	27	c.-41 others(38): Show c.-4159_-4133dupATAAGAACAACCAATGTTTTATAAACT	RPL7	ENSG00000147604.14	transcript	ENST00000352983.7	protein_coding		4112		chr8	TogoVar
RPP30_chr10_90866974_90907191	90880116	T T	TAGTCAAT others(20): Show TAGTCAATTAAGATAACTGACTGTGAAC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp1 HG00621.hp1 others(68): Show HG00280.hp1 HG00438.hp1 HG00621.hp1 HG00738.hp1 HG01261.hp2 HG01346.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp2 HG01952.hp2 HG01978.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02074.hp2 HG02083.hp1 HG02109.hp1 HG02132.hp1 HG02145.hp2 HG02257.hp2 HG02300.hp1 HG02486.hp2 HG02523.hp2 HG02647.hp2 HG02723.hp1 HG02809.hp2 HG02818.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG03041.hp1 HG03654.hp2 HG03669.hp2 HG03710.hp1 NA18612.hp2 NA18941.hp1 NA18945.hp2 NA18949.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp2 NA18959.hp1 NA18960.hp1 NA18962.hp1 NA18966.hp2 NA18968.hp1 NA18973.hp1 NA18975.hp2 NA18978.hp1 NA18980.hp1 NA18982.hp2 NA18984.hp2 NA18990.hp2 NA18999.hp1 NA19004.hp1 NA19006.hp1 NA19009.hp1 NA19011.hp1 NA19011.hp2 NA19058.hp2 NA19059.hp2 NA19066.hp2 NA19072.hp1 NA19074.hp1 NA19075.hp2 NA19082.hp2 NA19084.hp1 NA19086.hp1 NA19088.hp1 NA19089.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0013	a0001c0001t0001g0165 a0001c0001t0002g0002 a0001c0001t0002g0007 others(26): Show a0001c0001t0001g0165 a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0017 a0001c0001t0002g0030 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0050 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0129 a0001c0001t0002g0194 a0001c0001t0006g0002 a0001c0001t0006g0007 a0001c0001t0007g0002 a0001c0001t0007g0007 a0001c0001t0007g0017 a0001c0001t0013g0002	71	440	0.1614	27	c.342 others(44): Show c.342+1004_342+1030dupGTGAACAGTCAATTAAGATAACTGACT	RPP30	ENSG00000148688.14	transcript	ENST00000371703.8	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
RPRD2_chr1_150359147_150481566	150422367	T T	TAATAATA others(20): Show TAATAATAATAATAATAATAATAATAAA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01069.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0268 a0001c0001t0026g0269 a0001c0001t0026g0268 a0001c0001t0026g0269	2	318	0.0063	27	c.335 others(44): Show c.335+4644_335+4645insTAATAATAATAATAATAATAATAAAAA	RPRD2	ENSG00000163125.16	transcript	ENST00000369068.5	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
RPRD2_chr1_150359147_150481566	150431473	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0082 a0001c0001t0011g0082	1	318	0.0031	27	c.336 others(44): Show c.336-9426_336-9425insTTTTTTTTTTTTTTTTTTTTTTTTTTT	RPRD2	ENSG00000163125.16	transcript	ENST00000369068.5	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
RPS11_chr19_49491434_49504708	49493834	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	352	0.0028	27	c.-26 others(38): Show c.-2623_-2622insTTTTTTTTTTTTTTTTTTTTTTTTTTT	RPS11	ENSG00000142534.7	transcript	ENST00000270625.7	protein_coding		2599		chr19	TogoVar
RPSA2_chr19_23758004_23833868	23761901	A A	ATCCATCC others(20): Show ATCCATCCTTCCTTCCTTCCTTCCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG03486.hp1 HG02572.hp1 HG03486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0077 a0002c0002t0003 a0002c0002t0077	a0002c0002t0003g0161 a0002c0002t0077g0180 a0002c0002t0003g0161 a0002c0002t0077g0180	2	366	0.0055	27	c.-15 others(38): Show c.-1536_-1535insTCCATCCTTCCTTCCTTCCTTCCTTCC	RPSA2	ENSG00000288920.1	transcript	ENST00000484897.4	protein_coding		1102		chr19	TogoVar
RPTOR_chr17_80539838_80971368	80666105	T T	TTAGTATA others(20): Show TTAGTATAAAAATTCATTTCAAACCACC	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0030 a0001c0030	a0001c0030t0003 a0001c0030t0003	a0001c0030t0003g0117 a0001c0030t0003g0117	1	196	0.0051	27	c.348 others(46): Show c.348+22295_348+22296insTAGTATAAAAATTCATTTCAAACCAC C	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33			chr17	TogoVar
RPTOR_chr17_80539838_80971368	80685627	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0046 a0001c0046	a0001c0046t0024 a0001c0046t0024	a0001c0046t0024g0164 a0001c0046t0024g0164	1	196	0.0051	27	c.349 others(46): Show c.349-22213_349-22212insATATATATATATATATATATATATAT T	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80685627	A A	ATATATAT others(20): Show ATATATATATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0042 a0001c0001t0005g0042	1	196	0.0051	27	c.349 others(46): Show c.349-22213_349-22212insATATATATTTTTTTTTTTTTTTTTTT T	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80918418	G G	GGTCATAG others(20): Show GGTCATAGCCACGAGCACCCTCGCCGGA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03516.hp2 HG02109.hp1 HG03516.hp2	a0001 a0001	a0001c0008 a0001c0067 a0001c0008 a0001c0067	a0001c0008t0081 a0001c0067t0068 a0001c0008t0081 a0001c0067t0068	a0001c0008t0081g0019 a0001c0067t0068g0110 a0001c0008t0081g0019 a0001c0067t0068g0110	2	196	0.0102	27	c.252 others(46): Show c.2521-4255_2521-4229dupCGGAGTCATAGCCACGAGCACCCTCG C	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	21/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80918445	A A	AGTCATAG others(20): Show AGTCATAGCCACGAGCACCCTCGCGGGG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00438.hp1 HG00438.hp2 others(57): Show HG00099.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00621.hp2 HG00735.hp1 HG00735.hp2 HG01070.hp1 HG01074.hp1 HG01074.hp2 HG01167.hp1 HG01169.hp2 HG01258.hp2 HG01496.hp1 HG01516.hp1 HG01517.hp1 HG01934.hp2 HG02015.hp1 HG02109.hp2 HG02129.hp1 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02486.hp1 HG02486.hp2 HG02630.hp1 HG02976.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03209.hp1 HG03453.hp2 HG03490.hp2 HG03491.hp2 HG03516.hp1 HG03540.hp1 HG03654.hp2 HG03669.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18963.hp1 NA18963.hp2 NA18980.hp1 NA19007.hp1 NA19030.hp1 NA19043.hp2 NA19057.hp1 NA19066.hp1 NA19066.hp2 NA19068.hp2 NA19070.hp1 NA19082.hp2 NA19088.hp2 NA20752.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(31): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0009 a0001c0011 a0001c0013 a0001c0016 a0001c0018 a0001c0021 a0001c0023 a0001c0024 a0001c0027 a0001c0029 a0001c0030 a0001c0032 a0001c0033 a0001c0039 a0001c0041 a0001c0042 a0001c0049 a0001c0059 a0001c0064 a0001c0068 a0001c0077 a0001c0080 a0001c0081 a0001c0085 a0001c0089 a0001c0093 a0001c0094 a0001c0095 a0001c0097	a0001c0001t0002 a0001c0001t0005 a0001c0001t0015 others(51): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0015 a0001c0001t0019 a0001c0001t0092 a0001c0002t0002 a0001c0002t0008 a0001c0002t0010 a0001c0002t0017 a0001c0002t0039 a0001c0002t0040 a0001c0004t0023 a0001c0005t0026 a0001c0005t0067 a0001c0005t0075 a0001c0005t0083 a0001c0006t0022 a0001c0009t0001 a0001c0009t0012 a0001c0011t0047 a0001c0011t0062 a0001c0013t0021 a0001c0016t0029 a0001c0018t0009 a0001c0018t0016 a0001c0018t0017 a0001c0021t0018 a0001c0021t0079 a0001c0023t0009 a0001c0024t0003 a0001c0024t0037 a0001c0027t0016 a0001c0027t0096 a0001c0029t0025 a0001c0030t0003 a0001c0032t0033 a0001c0032t0097 a0001c0033t0098 a0001c0039t0061 a0001c0041t0004 a0001c0042t0055 a0001c0049t0011 a0001c0059t0080 a0001c0064t0006 a0001c0068t0025 a0001c0077t0086 a0001c0080t0011 a0001c0081t0002 a0001c0085t0003 a0001c0089t0006 a0001c0093t0070 a0001c0094t0057 a0001c0095t0003 a0001c0097t0001	a0001c0001t0002g0038 a0001c0001t0005g0042 a0001c0001t0005g0044 others(57): Show a0001c0001t0002g0038 a0001c0001t0005g0042 a0001c0001t0005g0044 a0001c0001t0005g0046 a0001c0001t0015g0085 a0001c0001t0019g0050 a0001c0001t0019g0057 a0001c0001t0092g0029 a0001c0002t0002g0027 a0001c0002t0002g0028 a0001c0002t0008g0131 a0001c0002t0010g0064 a0001c0002t0017g0118 a0001c0002t0039g0088 a0001c0002t0040g0105 a0001c0004t0023g0074 a0001c0005t0026g0109 a0001c0005t0026g0151 a0001c0005t0067g0111 a0001c0005t0075g0009 a0001c0005t0083g0017 a0001c0006t0022g0090 a0001c0009t0001g0125 a0001c0009t0012g0103 a0001c0011t0047g0076 a0001c0011t0062g0114 a0001c0013t0021g0093 a0001c0016t0029g0193 a0001c0018t0009g0066 a0001c0018t0016g0120 a0001c0018t0017g0140 a0001c0021t0018g0014 a0001c0021t0079g0005 a0001c0023t0009g0071 a0001c0024t0003g0129 a0001c0024t0037g0092 a0001c0027t0016g0185 a0001c0027t0096g0060 a0001c0029t0025g0153 a0001c0030t0003g0115 a0001c0030t0003g0117 a0001c0032t0033g0039 a0001c0032t0097g0053 a0001c0033t0098g0026 a0001c0039t0061g0177 a0001c0041t0004g0175 a0001c0042t0055g0179 a0001c0049t0011g0078 a0001c0059t0080g0006 a0001c0064t0006g0106 a0001c0068t0025g0104 a0001c0077t0086g0195 a0001c0080t0011g0077 a0001c0081t0002g0022 a0001c0085t0003g0162 a0001c0089t0006g0159 a0001c0093t0070g0155 a0001c0094t0057g0136 a0001c0095t0003g0137 a0001c0097t0001g0157	60	196	0.3061	27	c.252 others(46): Show c.2521-4256_2521-4255insGGGGGTCATAGCCACGAGCACCCTCG C	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	21/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80918456	C C	CGAGCACC others(20): Show CGAGCACCCTCGCGGGGGTCATAGCCAT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02970.hp2 HG02145.hp1 HG02970.hp2	a0001 a0001	a0001c0008 a0001c0046 a0001c0008 a0001c0046	a0001c0008t0027 a0001c0046t0024 a0001c0008t0027 a0001c0046t0024	a0001c0008t0027g0143 a0001c0046t0024g0164 a0001c0008t0027g0143 a0001c0046t0024g0164	2	196	0.0102	27	c.252 others(46): Show c.2521-4256_2521-4255insGGGGGTCATAGCCATGAGCACCCTCG C	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	21/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80918472	A A	AGTCATAG others(20): Show AGTCATAGCCACGAGCACCCTCGCGGGG	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01978.hp1 HG01361.hp1 HG01978.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0008 a0001c0015t0008	a0001c0015t0008g0139 a0001c0015t0008g0146 a0001c0015t0008g0139 a0001c0015t0008g0146	2	196	0.0102	27	c.252 others(46): Show c.2521-4241_2521-4215dupCGAGCACCCTCGCGGGGGTCATAGCC A	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	21/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80930324	A A	AGCTCAGC others(20): Show AGCTCAGCTCATCCTCAGCTCATCCTCT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00323.hp1 others(49): Show HG00099.hp1 HG00140.hp2 HG00323.hp1 HG00423.hp1 HG00544.hp2 HG01071.hp2 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01168.hp2 HG01175.hp1 HG01255.hp1 HG01255.hp2 HG01361.hp1 HG01496.hp2 HG01978.hp1 HG02015.hp2 HG02055.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp2 HG02602.hp1 HG02647.hp2 HG02683.hp2 HG02723.hp2 HG02895.hp2 HG02897.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03453.hp2 HG03516.hp1 HG03540.hp1 HG03669.hp1 HG03688.hp2 HG03834.hp1 HG03834.hp2 HG04204.hp2 NA18522.hp1 NA18522.hp2 NA18944.hp2 NA19007.hp2 NA19011.hp2 NA19030.hp1 NA19068.hp1 NA19082.hp1	a0001 a0001	a0001c0005 a0001c0006 a0001c0007 others(28): Show a0001c0005 a0001c0006 a0001c0007 a0001c0010 a0001c0015 a0001c0016 a0001c0019 a0001c0022 a0001c0026 a0001c0029 a0001c0035 a0001c0038 a0001c0040 a0001c0043 a0001c0051 a0001c0054 a0001c0055 a0001c0056 a0001c0060 a0001c0061 a0001c0066 a0001c0068 a0001c0071 a0001c0073 a0001c0077 a0001c0078 a0001c0084 a0001c0088 a0001c0090 a0001c0091 a0001c0096	a0001c0005t0026 a0001c0005t0067 a0001c0005t0074 others(45): Show a0001c0005t0026 a0001c0005t0067 a0001c0005t0074 a0001c0005t0075 a0001c0005t0083 a0001c0006t0087 a0001c0007t0069 a0001c0007t0084 a0001c0007t0090 a0001c0010t0009 a0001c0010t0032 a0001c0010t0056 a0001c0010t0071 a0001c0010t0094 a0001c0015t0008 a0001c0015t0046 a0001c0016t0029 a0001c0016t0031 a0001c0019t0003 a0001c0019t0005 a0001c0019t0042 a0001c0022t0001 a0001c0022t0022 a0001c0026t0010 a0001c0026t0043 a0001c0029t0025 a0001c0029t0085 a0001c0035t0010 a0001c0038t0007 a0001c0040t0066 a0001c0043t0008 a0001c0051t0060 a0001c0054t0034 a0001c0055t0049 a0001c0056t0001 a0001c0060t0001 a0001c0061t0009 a0001c0066t0058 a0001c0068t0025 a0001c0071t0088 a0001c0073t0002 a0001c0077t0086 a0001c0078t0041 a0001c0084t0059 a0001c0088t0007 a0001c0090t0001 a0001c0091t0016 a0001c0096t0072	a0001c0005t0026g0109 a0001c0005t0026g0151 a0001c0005t0067g0111 others(49): Show a0001c0005t0026g0109 a0001c0005t0026g0151 a0001c0005t0067g0111 a0001c0005t0074g0008 a0001c0005t0075g0009 a0001c0005t0083g0017 a0001c0006t0087g0013 a0001c0007t0069g0128 a0001c0007t0084g0007 a0001c0007t0090g0025 a0001c0010t0009g0058 a0001c0010t0032g0059 a0001c0010t0056g0183 a0001c0010t0071g0184 a0001c0010t0094g0054 a0001c0015t0008g0139 a0001c0015t0008g0146 a0001c0015t0046g0079 a0001c0016t0029g0193 a0001c0016t0031g0010 a0001c0016t0031g0011 a0001c0019t0003g0135 a0001c0019t0005g0037 a0001c0019t0042g0089 a0001c0022t0001g0132 a0001c0022t0001g0170 a0001c0022t0022g0095 a0001c0026t0010g0045 a0001c0026t0043g0096 a0001c0029t0025g0153 a0001c0029t0085g0012 a0001c0035t0010g0063 a0001c0038t0007g0178 a0001c0040t0066g0180 a0001c0043t0008g0176 a0001c0051t0060g0116 a0001c0054t0034g0056 a0001c0055t0049g0083 a0001c0056t0001g0107 a0001c0060t0001g0130 a0001c0061t0009g0040 a0001c0066t0058g0126 a0001c0068t0025g0104 a0001c0071t0088g0035 a0001c0073t0002g0070 a0001c0077t0086g0195 a0001c0078t0041g0100 a0001c0084t0059g0165 a0001c0088t0007g0141 a0001c0090t0001g0161 a0001c0091t0016g0166 a0001c0096t0072g0171	52	196	0.2653	27	c.291 others(46): Show c.2919+4849_2919+4850insGCTCATCCTCAGCTCATCCTCTGCTC A	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	24/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RRAS2_chr11_14272922_14364183	14280726	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0014 a0001c0001t0007g0014	1	279	0.0036	27	c.527 others(42): Show c.527+849_527+875dupTTTTTTTTTTTTTTTTTTTTTTTTTTT	RRAS2	ENSG00000133818.14	transcript	ENST00000256196.9	protein_coding	5/5			chr11	TogoVar
RRAS2_chr11_14272922_14364183	14362421	T T	TGCCAAAA others(20): Show TGCCAAAATGAGCTCTTTCCCTAAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG02055.hp2 HG02615.hp1 others(2): Show HG00639.hp2 HG02055.hp2 HG02615.hp1 HG02922.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0054 a0001c0001t0001g0075 a0001c0001t0001g0076 others(2): Show a0001c0001t0001g0054 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0093 a0001c0001t0004g0005	5	279	0.0179	27	c.-35 others(38): Show c.-3552_-3551insTTTCTTAGGGAAAGAGCTCATTTTGGC	RRAS2	ENSG00000133818.14	transcript	ENST00000256196.9	protein_coding		3239		chr11	TogoVar
RRP7A_chr22_42503344_42524796	42509850	G G	GTGTGTGT others(20): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0070 a0002c0001t0070	a0002c0001t0070g0090 a0002c0001t0070g0090	1	388	0.0026	27	c.30 others(38): Show c.3059_*3060insACACACACACACACACACACACACACA	RRP7A	ENSG00000189306.11	transcript	ENST00000323013.7	protein_coding	7/7	3059		chr22	TogoVar
RSAD1_chr17_50473860_50490974	50483189	A A	AAAAAAAA others(20): Show AAAAAAAAAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02055.hp1 HG02109.hp2 others(1): Show HG01884.hp1 HG02055.hp1 HG02109.hp2 HG03195.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0016 a0001c0003t0003g0030 a0001c0003t0003g0016 a0001c0003t0003g0030	4	382	0.0105	27	c.905 others(42): Show c.905-148_905-147insAAAAAAAGAAAGAAAGAAAGAAAGAAA	RSAD1	ENSG00000136444.10	transcript	ENST00000258955.7	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
RSBN1L_chr7_77691459_77788022	77725244	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02293.hp2 HG04228.hp2 others(1): Show HG01192.hp2 HG02293.hp2 HG04228.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0003 a0001c0001t0034 a0001c0004t0005 a0001c0001t0003 a0001c0001t0034 a0001c0004t0005	a0001c0001t0003g0172 a0001c0001t0034g0171 a0001c0004t0005g0195 others(1): Show a0001c0001t0003g0172 a0001c0001t0034g0171 a0001c0004t0005g0195 a0001c0004t0005g0211	4	336	0.0119	27	c.587 others(46): Show c.587-11145_587-11144insTTTTTTTTTTTTTTTTTTTTTTTTTT T	RSBN1L	ENSG00000187257.16	transcript	ENST00000334955.13	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
RSBN1L_chr7_77691459_77788022	77784318	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0007 a0002c0003t0007	a0002c0003t0007g0104 a0002c0003t0007g0104	1	336	0.0030	27	c.51 others(38): Show c.5150_*5151insAAAAAAAAAAAAAAAAAAAAAAAAAAA	RSBN1L	ENSG00000187257.16	transcript	ENST00000334955.13	protein_coding		1297		chr7	TogoVar
RSF1_chr11_77655009_77825722	77686408	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA19043.hp2 NA19090.hp1 NA18906.hp1 NA19043.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0013 a0001c0001t0005 a0001c0001t0013	a0001c0001t0005g0252 a0001c0001t0013g0271 a0001c0001t0013g0272 a0001c0001t0005g0252 a0001c0001t0013g0271 a0001c0001t0013g0272	3	352	0.0085	27	c.290 others(46): Show c.2901-1250_2901-1249insTTTTTTTTTTTTTTTTTTTTTTTTTT T	RSF1	ENSG00000048649.14	transcript	ENST00000308488.11	protein_coding	9/15			chr11	TogoVar
RSRC1_chr3_158105089_158550730	158106620	A A	AGAGAGAG others(20): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0259 a0001c0001t0001g0259	1	276	0.0036	27	c.-36 others(38): Show c.-3606_-3605insGAGAGAGAGAGAGAGAGAGAGAGAGAG	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding		3468		chr3	TogoVar
RSRC1_chr3_158105089_158550730	158487949	G G	GGAAAAAA others(20): Show GGAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG06807.hp2 NA19240.hp2 HG02615.hp2 HG06807.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0020 a0001c0001t0002g0022 a0001c0001t0006g0212 a0001c0001t0002g0020 a0001c0001t0002g0022 a0001c0001t0006g0212	3	276	0.0109	27	c.652 others(46): Show c.652+26946_652+26947insGAAAAAAAAAAAAAAAAAAAAAAAAA A	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	7/9			chr3	TogoVar
RSRC1_chr3_158105089_158550730	158549528	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAAAATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp2 NA18999.hp1 NA19058.hp1 HG03195.hp2 NA18999.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0037 a0001c0001t0007g0181 a0001c0001t0007g0188 a0001c0001t0007g0037 a0001c0001t0007g0181 a0001c0001t0007g0188	3	276	0.0109	27	c.52 others(38): Show c.5253_*5254insAAAAAAAAAAAAAAAAAATATATATAT	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding		3799		chr3	TogoVar
RSRC1_chr3_158105089_158550730	158549528	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0039 a0001c0001t0009g0039	1	276	0.0036	27	c.52 others(38): Show c.5253_*5254insAAAAAAAAAAAAAAAATATATATATAT	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding		3799		chr3	TogoVar
RSRC1_chr3_158105089_158550730	158549528	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0209 a0001c0001t0004g0209	1	276	0.0036	27	c.52 others(38): Show c.5253_*5254insAAAAAAAAAAAAAATATATATATATAT	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding		3799		chr3	TogoVar
RTEL1_chr20_63653312_63701245	63693654	A A	ACCACCTC others(20): Show ACCACCTCCACCACCACCTCCACCACCT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	60	0.0167	27	c.299 others(44): Show c.2992+376_2992+377insTCCACCACCACCTCCACCACCTCCACC	RTEL1	ENSG00000258366.12	transcript	ENST00000360203.11	protein_coding	30/34		INFO_REALIGN_3_PRIME	chr20	TogoVar
RTL10_chr22_19841146_19859874	19847803	G G	GAAAAAAA others(20): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18951.hp2 NA18954.hp2 NA19064.hp2 NA18951.hp2 NA18954.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0018 a0001c0001t0015g0018	3	418	0.0072	27	c.33 others(38): Show c.3363_*3364insTTTTTTTTTTTTTTTTTTTTTTTTTTT	RTL10	ENSG00000215012.9	transcript	ENST00000328554.9	protein_coding	3/3	3363		chr22	TogoVar
RTL8A_chrX_135045932_135057135	135055284	A A	AAAAAAAA others(20): Show AAAAAAAAATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	318	0.0031	27	c.-31 others(38): Show c.-3177_-3176insATATATATATATATATATATTTTTTTT	RTL8A	ENSG00000203950.7	transcript	ENST00000370775.3	protein_coding		3150		chrX	TogoVar
RTN1_chr14_59590983_59875776	59728249	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	172	0.0058	27	c.101 others(44): Show c.1016-582_1016-581insAAAAAAAAAAAAAAAAAAAAAAAAAAA	RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	2/8			chr14	TogoVar
RTN3_chr11_63676500_63764882	63685495	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02897.hp2 HG02647.hp1 HG02897.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0006 a0002c0002t0003 a0002c0002t0006	a0002c0002t0003g0110 a0002c0002t0006g0041 a0002c0002t0003g0110 a0002c0002t0006g0041	2	170	0.0118	27	c.142 others(44): Show c.142+3731_142+3732insAAAAAAAAAAAAAAAAAAAAAAAAAAA	RTN3	ENSG00000133318.14	transcript	ENST00000377819.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
RTP5_chr2_241864729_241878823	241865702	T T	TTGTGTGG others(20): Show TTGTGTGGTGTGTGTGGTATATGTGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00423.hp2 HG01099.hp2 others(64): Show HG00099.hp1 HG00423.hp2 HG01099.hp2 HG01109.hp2 HG01261.hp2 HG01496.hp2 HG01884.hp2 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02145.hp1 HG02145.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03492.hp1 HG03540.hp1 HG03579.hp2 NA18522.hp2 NA18906.hp2 NA18943.hp1 NA18954.hp1 NA18965.hp2 NA18971.hp2 NA18979.hp1 NA18983.hp2 NA18984.hp1 NA18985.hp2 NA18995.hp2 NA18998.hp1 NA18999.hp1 NA19000.hp1 NA19003.hp2 NA19043.hp2 NA19060.hp1 NA19065.hp1 NA19074.hp1 NA19074.hp2 NA19079.hp2 NA19085.hp2 NA19088.hp1 NA20300.hp1 NA21309.hp1	a0001 a0004 a0005 others(8): Show a0001 a0004 a0005 a0006 a0007 a0008 a0011 a0012 a0013 a0016 a0017	a0001c0001 a0001c0023 a0001c0025 others(10): Show a0001c0001 a0001c0023 a0001c0025 a0004c0004 a0005c0005 a0006c0006 a0007c0007 a0008c0008 a0011c0013 a0012c0014 a0013c0012 a0016c0028 a0017c0027	a0001c0001t0030 a0001c0023t0005 a0001c0025t0005 others(13): Show a0001c0001t0030 a0001c0023t0005 a0001c0025t0005 a0004c0004t0001 a0004c0004t0010 a0005c0005t0005 a0005c0005t0022 a0006c0006t0007 a0007c0007t0002 a0007c0007t0006 a0008c0008t0006 a0011c0013t0001 a0012c0014t0012 a0013c0012t0013 a0016c0028t0001 a0017c0027t0001	a0001c0001t0030g0027 a0001c0023t0005g0022 a0001c0025t0005g0005 others(17): Show a0001c0001t0030g0027 a0001c0023t0005g0022 a0001c0025t0005g0005 a0004c0004t0001g0003 a0004c0004t0001g0024 a0004c0004t0001g0028 a0004c0004t0001g0031 a0004c0004t0010g0003 a0005c0005t0005g0005 a0005c0005t0022g0005 a0006c0006t0007g0009 a0007c0007t0002g0012 a0007c0007t0006g0012 a0008c0008t0006g0011 a0011c0013t0001g0003 a0012c0014t0012g0015 a0013c0012t0013g0013 a0013c0012t0013g0030 a0016c0028t0001g0003 a0017c0027t0001g0003	67	365	0.1836	27	c.-40 others(38): Show c.-4055_-4054insTGTGTGGTGTGTGTGGTATATGTGTGG	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding		4026		chr2	TogoVar
RUFY1_chr5_179545554_179615012	179579657	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	376	0.0027	27	c.891 others(44): Show c.891-1268_891-1267insTTTTTTTTTTTTTTTTTTTTTTTTTTT	RUFY1	ENSG00000176783.15	transcript	ENST00000319449.9	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
RUNX1_chr21_34782801_35054302	34967319	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	170	0.0059	27	c.59- others(44): Show c.59-74383_59-74357dupTTTTTTTTTTTTTTTTTTTTTTTTTTT	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
RWDD1_chr6_116566504_116602675	116567708	A A	ATGGGAAA others(20): Show ATGGGAAAAATGAGTTAAAGGGGATAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0009 a0001c0001t0003g0009	1	378	0.0027	27	c.-38 others(38): Show c.-3875_-3874insTGGGAAAAATGAGTTAAAGGGGATAGG	RWDD1	ENSG00000111832.13	transcript	ENST00000466444.7	protein_coding		3795		chr6	TogoVar
RWDD2B_chr21_28999384_29024349	29017861	G G	GAGGGTGC others(20): Show GAGGGTGCTAGAACAGCTGGCCAGAGCA	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0166 a0001c0001t0002g0166	1	438	0.0023	27	c.67+ others(42): Show c.67+1323_67+1349dupTGCTCTGGCCAGCTGTTCTAGCACCCT	RWDD2B	ENSG00000156253.7	transcript	ENST00000493196.2	protein_coding	1/4			chr21	TogoVar
RWDD4_chr4_183634635_183664185	183638494	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0044 a0001c0003t0002g0044	1	480	0.0021	27	c.29 others(38): Show c.2941_*2942insTTTTTTTTTTTTTTTTTTTTTTTTTTT	RWDD4	ENSG00000182552.15	transcript	ENST00000326397.10	protein_coding		1140		chr4	TogoVar
RWDD4_chr4_183634635_183664185	183643415	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00735.hp2 HG00738.hp2 others(5): Show HG00323.hp1 HG00735.hp2 HG00738.hp2 HG01243.hp1 NA18951.hp1 NA18951.hp2 NA18986.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0097 a0001c0001t0001g0127 others(5): Show a0001c0001t0001g0093 a0001c0001t0001g0097 a0001c0001t0001g0127 a0001c0001t0001g0155 a0001c0001t0001g0169 a0001c0001t0001g0205 a0001c0001t0001g0249 a0001c0001t0001g0389	8	480	0.0167	27	c.535 others(44): Show c.535-1974_535-1948dupTTTTTTTTTTTTTTTTTTTTTTTTTTT	RWDD4	ENSG00000182552.15	transcript	ENST00000326397.10	protein_coding	7/7			chr4	TogoVar
RXFP1_chr4_158516882_158658372	158542109	A A	ATATATAT others(20): Show ATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	210	0.0048	27	c.49+ others(44): Show c.49+20085_49+20086insATATATATATATATATATTTTTTTTTT	RXFP1	ENSG00000171509.16	transcript	ENST00000307765.10	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RXFP2_chr13_31734526_31808389	31776102	T T	TTTCTTTC others(20): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	386	0.0026	27	c.641 others(42): Show c.641+715_641+716insCTTTCTTTCTTTCTTTCTTTCTTTCTT	RXFP2	ENSG00000133105.8	transcript	ENST00000298386.7	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr13	TogoVar

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