Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
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	a0001c0001t0015g0026 a0001c0001t0015g0026	3	444	0.0068	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	446	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	a0001c0001t0001g0162 a0001c0001t0002g0002 a0001c0001t0002g0007 others(26): Show a0001c0001t0001g0162 a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0017 a0001c0001t0002g0029 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0048 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0127 a0001c0001t0002g0191 a0001c0001t0006g0002 a0001c0001t0006g0007 a0001c0001t0007g0002 a0001c0001t0007g0007 a0001c0001t0007g0017 a0001c0001t0013g0002	71	438	0.1621	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	296	0.0068	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	a0001c0001t0011g0074 a0001c0001t0011g0074	1	32	0.0313	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	19	0.0526	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	a0002c0002t0003g0164 a0002c0002t0077g0118 a0002c0002t0003g0164 a0002c0002t0077g0118	2	268	0.0075	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	194	0.0052	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	38	0.0263	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	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0042 a0001c0001t0008g0042	1	38	0.0263	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	162	0.0123	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(56): 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	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 a0001c0001t0008 a0001c0001t0015 others(51): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0015 a0001c0001t0019 a0001c0001t0092 a0001c0002t0002 a0001c0002t0007 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 a0001c0027t0097 a0001c0029t0025 a0001c0030t0003 a0001c0032t0033 a0001c0032t0098 a0001c0033t0099 a0001c0039t0061 a0001c0041t0004 a0001c0042t0055 a0001c0049t0011 a0001c0059t0080 a0001c0064t0005 a0001c0068t0025 a0001c0077t0086 a0001c0080t0011 a0001c0081t0002 a0001c0085t0003 a0001c0089t0005 a0001c0093t0070 a0001c0094t0057 a0001c0095t0003 a0001c0097t0001	a0001c0001t0002g0038 a0001c0001t0008g0042 a0001c0001t0008g0043 others(56): Show a0001c0001t0002g0038 a0001c0001t0008g0042 a0001c0001t0008g0043 a0001c0001t0015g0088 a0001c0001t0019g0049 a0001c0001t0019g0056 a0001c0001t0092g0029 a0001c0002t0002g0027 a0001c0002t0002g0028 a0001c0002t0007g0136 a0001c0002t0010g0063 a0001c0002t0017g0118 a0001c0002t0039g0091 a0001c0002t0040g0108 a0001c0004t0023g0077 a0001c0005t0026g0109 a0001c0005t0026g0151 a0001c0005t0067g0111 a0001c0005t0075g0008 a0001c0005t0083g0017 a0001c0006t0022g0093 a0001c0009t0001g0125 a0001c0009t0012g0106 a0001c0011t0047g0079 a0001c0011t0062g0114 a0001c0013t0021g0096 a0001c0016t0029g0184 a0001c0018t0009g0065 a0001c0018t0016g0120 a0001c0018t0017g0141 a0001c0021t0018g0014 a0001c0021t0079g0006 a0001c0023t0009g0070 a0001c0024t0003g0133 a0001c0024t0037g0095 a0001c0027t0016g0189 a0001c0027t0097g0059 a0001c0029t0025g0153 a0001c0030t0003g0116 a0001c0030t0003g0117 a0001c0032t0033g0039 a0001c0032t0098g0052 a0001c0033t0099g0026 a0001c0039t0061g0177 a0001c0041t0004g0175 a0001c0042t0055g0179 a0001c0049t0011g0081 a0001c0059t0080g0005 a0001c0064t0005g0074 a0001c0068t0025g0107 a0001c0077t0086g0195 a0001c0080t0011g0080 a0001c0081t0002g0022 a0001c0085t0003g0162 a0001c0089t0005g0159 a0001c0093t0070g0157 a0001c0094t0057g0137 a0001c0095t0003g0138 a0001c0097t0001g0155	59	187	0.3155	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	a0001c0008t0027g0129 a0001c0046t0024g0164 a0001c0008t0027g0129 a0001c0046t0024g0164	2	172	0.0116	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	a0001c0015t0007 a0001c0015t0007	a0001c0015t0007g0140 a0001c0015t0007g0146 a0001c0015t0007g0140 a0001c0015t0007g0146	2	187	0.0107	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 a0001c0010t0095 a0001c0015t0007 a0001c0015t0046 a0001c0016t0029 a0001c0016t0031 a0001c0019t0003 a0001c0019t0008 a0001c0019t0042 a0001c0022t0001 a0001c0022t0022 a0001c0026t0010 a0001c0026t0043 a0001c0029t0025 a0001c0029t0085 a0001c0035t0010 a0001c0038t0006 a0001c0040t0066 a0001c0043t0007 a0001c0051t0060 a0001c0054t0034 a0001c0055t0049 a0001c0056t0001 a0001c0060t0001 a0001c0061t0009 a0001c0066t0058 a0001c0068t0025 a0001c0071t0088 a0001c0073t0002 a0001c0077t0086 a0001c0078t0041 a0001c0084t0059 a0001c0088t0006 a0001c0090t0001 a0001c0091t0016 a0001c0096t0072	a0001c0005t0026g0109 a0001c0005t0026g0151 a0001c0005t0067g0111 others(49): Show a0001c0005t0026g0109 a0001c0005t0026g0151 a0001c0005t0067g0111 a0001c0005t0074g0009 a0001c0005t0075g0008 a0001c0005t0083g0017 a0001c0006t0087g0013 a0001c0007t0069g0128 a0001c0007t0084g0007 a0001c0007t0090g0025 a0001c0010t0009g0057 a0001c0010t0032g0058 a0001c0010t0056g0187 a0001c0010t0071g0188 a0001c0010t0095g0053 a0001c0015t0007g0140 a0001c0015t0007g0146 a0001c0015t0046g0082 a0001c0016t0029g0184 a0001c0016t0031g0010 a0001c0016t0031g0011 a0001c0019t0003g0134 a0001c0019t0008g0037 a0001c0019t0042g0092 a0001c0022t0001g0130 a0001c0022t0001g0170 a0001c0022t0022g0098 a0001c0026t0010g0044 a0001c0026t0043g0099 a0001c0029t0025g0153 a0001c0029t0085g0012 a0001c0035t0010g0062 a0001c0038t0006g0178 a0001c0040t0066g0180 a0001c0043t0007g0176 a0001c0051t0060g0115 a0001c0054t0034g0054 a0001c0055t0049g0086 a0001c0056t0001g0075 a0001c0060t0001g0135 a0001c0061t0009g0040 a0001c0066t0058g0126 a0001c0068t0025g0107 a0001c0071t0088g0035 a0001c0073t0002g0069 a0001c0077t0086g0195 a0001c0078t0041g0103 a0001c0084t0059g0165 a0001c0088t0006g0142 a0001c0090t0001g0161 a0001c0091t0016g0166 a0001c0096t0072g0171	52	193	0.2694	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	19	0.0526	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	a0001c0001t0001g0052 a0001c0001t0001g0072 a0001c0001t0001g0073 others(2): Show a0001c0001t0001g0052 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0093 a0001c0001t0004g0005	5	278	0.0180	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	129	0.0078	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	40	0.1000	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	a0001c0001t0003g0175 a0001c0001t0034g0173 a0001c0004t0005g0194 others(1): Show a0001c0001t0003g0175 a0001c0001t0034g0173 a0001c0004t0005g0194 a0001c0004t0005g0210	4	104	0.0385	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	a0002c0003t0007g0105 a0002c0003t0007g0105	1	84	0.0119	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	76	0.0395	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	a0001c0001t0001g0258 a0001c0001t0001g0258	1	261	0.0038	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	a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0006g0200 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0006g0200	3	55	0.0545	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 a0001c0001t0007g0205 a0001c0001t0007g0206 a0001c0001t0007g0037 a0001c0001t0007g0205 a0001c0001t0007g0206	3	130	0.0231	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	128	0.0078	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	a0001c0001t0004g0194 a0001c0001t0004g0194	1	128	0.0078	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	46	0.0217	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	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0019 a0001c0001t0016g0019	3	370	0.0081	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	177	0.0056	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	34	0.0294	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	9	0.2222	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 a0015 a0018	a0001c0001 a0001c0023 a0001c0025 others(10): Show a0001c0001 a0001c0023 a0001c0025 a0004c0004 a0005c0005 a0006c0006 a0007c0007 a0008c0008 a0011c0012 a0012c0014 a0013c0013 a0015c0028 a0018c0027	a0001c0001t0029 a0001c0023t0005 a0001c0025t0005 others(13): Show a0001c0001t0029 a0001c0023t0005 a0001c0025t0005 a0004c0004t0001 a0004c0004t0010 a0005c0005t0005 a0005c0005t0021 a0006c0006t0007 a0007c0007t0002 a0007c0007t0006 a0008c0008t0006 a0011c0012t0012 a0012c0014t0011 a0013c0013t0001 a0015c0028t0001 a0018c0027t0001	a0001c0001t0029g0027 a0001c0023t0005g0022 a0001c0025t0005g0005 others(17): Show a0001c0001t0029g0027 a0001c0023t0005g0022 a0001c0025t0005g0005 a0004c0004t0001g0003 a0004c0004t0001g0024 a0004c0004t0001g0028 a0004c0004t0001g0031 a0004c0004t0010g0003 a0005c0005t0005g0005 a0005c0005t0021g0005 a0006c0006t0007g0009 a0007c0007t0002g0012 a0007c0007t0006g0012 a0008c0008t0006g0011 a0011c0012t0012g0013 a0011c0012t0012g0030 a0012c0014t0011g0015 a0013c0013t0001g0003 a0015c0028t0001g0003 a0018c0027t0001g0003	67	275	0.2436	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	48	0.0208	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	a0001c0001t0001g0035 a0001c0001t0001g0035	1	14	0.0714	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	376	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	a0001c0001t0002g0145 a0001c0001t0002g0145	1	436	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	217	0.0046	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 a0001c0001t0001g0126 others(5): Show a0001c0001t0001g0093 a0001c0001t0001g0097 a0001c0001t0001g0126 a0001c0001t0001g0154 a0001c0001t0001g0168 a0001c0001t0001g0204 a0001c0001t0001g0248 a0001c0001t0001g0387	8	12	0.6667	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	a0001c0001t0001g0079 a0001c0001t0001g0079	1	25	0.0400	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	a0001c0001t0001g0202 a0001c0001t0001g0202	1	75	0.0133	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
RXRA_chr9_134321455_134445585	134326580	C C	CGCCCGCC others(20): Show CGCCCGCCGCCCGCTGCCTGCGCCGCCG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0172 a0001c0001t0024g0172	1	230	0.0043	27	c.-48 others(34): Show c.-48_-22dupCGCCGCCCGCTGCCTGCGCCGCCGGCC	RXRA	ENSG00000186350.12	transcript	ENST00000481739.2	protein_coding	1/10	21	INFO_REALIGN_3_PRIME	chr9	TogoVar
RYR1_chr19_38428691_38592564	38590394	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0029 a0001c0029	a0001c0029t0001 a0001c0029t0001	a0001c0029t0001g0129 a0001c0029t0001g0129	1	109	0.0092	27	c.29 others(38): Show c.2974_*2975insAAAAAAAAAAAAAATATATATATATAT	RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding		2831		chr19	TogoVar
RYR2_chr1_237037184_237838988	237346367	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0011 a0001c0004t0011	a0001c0004t0011g0093 a0001c0004t0011g0093	1	71	0.0141	27	c.274 others(44): Show c.274-9581_274-9580insAAAAAAAAAAAAAAAAAAAAAAAAAAA	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	3/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237436453	C C	CATTTTTT others(20): Show CATTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0025 a0001c0001t0006g0025	1	100	0.0100	27	c.100 others(46): Show c.1006-4866_1006-4865insATTTTTTTTTTTTTTTTTTTTTTTTT T	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	12/104			chr1	TogoVar
RYR2_chr1_237037184_237838988	237436454	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03704.hp1 NA18522.hp2 HG03704.hp1 NA18522.hp2	a0001 a0001	a0001c0003 a0001c0037 a0001c0003 a0001c0037	a0001c0003t0003 a0001c0037t0012 a0001c0003t0003 a0001c0037t0012	a0001c0003t0003g0046 a0001c0037t0012g0037 a0001c0003t0003g0046 a0001c0037t0012g0037	2	25	0.0800	27	c.100 others(46): Show c.1006-4841_1006-4840insTTTTTTTTTTTTTTTTTTTTTTTTTT T	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	12/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR3_chr15_33305967_33871102	33789658	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0120 a0001c0120	a0001c0120t0002 a0001c0120t0002	a0001c0120t0002g0121 a0001c0120t0002g0121	1	79	0.0127	27	c.983 others(46): Show c.9830+1201_9830+1202insATATATATATATATATATATATATTT T	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	67/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33789658	A A	ATATATAT others(20): Show ATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0011 a0011	a0011c0086 a0011c0086	a0011c0086t0002 a0011c0086t0002	a0011c0086t0002g0111 a0011c0086t0002g0111	1	79	0.0127	27	c.983 others(46): Show c.9830+1201_9830+1202insATATATATATATATATATATTTTTTT T	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	67/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33794052	A A	AAATATAT others(20): Show AAATATATACATAATATATATTATATAT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG03688.hp1 HG00558.hp1 HG03688.hp1	a0001 a0046 a0001 a0046	a0001c0001 a0046c0109 a0001c0001 a0046c0109	a0001c0001t0002 a0046c0109t0005 a0001c0001t0002 a0046c0109t0005	a0001c0001t0002g0030 a0046c0109t0005g0040 a0001c0001t0002g0030 a0046c0109t0005g0040	2	75	0.0267	27	c.983 others(46): Show c.9830+5607_9830+5608insTATATATTATATATAATATATACATA A	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	67/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
S100A12_chr1_153368711_153380621	153373149	C C	CACATATA others(20): Show CACATATATATGTATATATCATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	364	0.0027	27	c.67 others(36): Show c.677_*678insATATATATGATATATACATATATATGT	S100A12	ENSG00000163221.9	transcript	ENST00000368737.5	protein_coding		561		chr1	TogoVar

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