Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

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
RTF1_chr15_41412095_41488563	41449227	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0221 a0001c0001t0005g0221	1	127	0.0079	17	c.310 others(34): Show c.310-3669_310-3653dupTTTTTTTTTTTTTTTTT	RTF1	ENSG00000137815.15	transcript	ENST00000389629.9	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr15	TogoVar
RTL9_chrX_110353848_110461334	110378008	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0002 a0008c0009t0002	a0008c0009t0002g0014 a0008c0009t0002g0014	1	98	0.0102	17	c.-16 others(38): Show c.-168+19100_-168+19116dupAAAAAAAAAAAAAAAAA	RTL9	ENSG00000243978.9	transcript	ENST00000520821.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chrX	TogoVar
RTN1_chr14_59590983_59875776	59750633	A A	AATATATA others(10): Show AATATATATTATATCTAT	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	170	0.0059	17	c.242 others(34): Show c.242-4153_242-4152insATAGATATAATATATAT	RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	1/8			chr14	TogoVar
RTN4RL1_chr17_1929677_2030334	2007333	C C	CACACACA others(10): Show CACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0097 a0001c0001t0016g0097	1	371	0.0027	17	c.13+ others(34): Show c.13+17519_13+17520insTGTGTGTGTGTGTGTGT	RTN4RL1	ENSG00000185924.7	transcript	ENST00000331238.7	protein_coding	1/1			chr17	TogoVar
RTP5_chr2_241864729_241878823	241866265	G G	GGCTGAGC others(10): Show GGCTGAGCTGCGCGGGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp2 HG00733.hp2 HG01070.hp2 others(55): Show HG00673.hp2 HG00733.hp2 HG01070.hp2 HG01071.hp1 HG01123.hp1 HG01167.hp2 HG01175.hp1 HG01943.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02572.hp2 HG02615.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp2 HG02809.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG03017.hp1 HG03041.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03486.hp2 HG03516.hp2 HG03579.hp1 HG03688.hp2 HG06807.hp2 NA18942.hp2 NA18959.hp1 NA18965.hp1 NA18999.hp2 NA19005.hp2 NA19030.hp1 NA19077.hp1 NA19080.hp1 NA19085.hp1 NA19086.hp2 NA19240.hp1 NA19240.hp2 NA20805.hp1 NA21309.hp2	a0001 a0003 a0014 others(5): Show a0001 a0003 a0014 a0016 a0017 a0019 a0021 a0024	a0001c0001 a0003c0003 a0014c0029 others(5): Show a0001c0001 a0003c0003 a0014c0029 a0016c0019 a0017c0015 a0019c0017 a0021c0022 a0024c0018	a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 others(16): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0009 a0001c0001t0015 a0001c0001t0018 a0001c0001t0019 a0001c0001t0034 a0003c0003t0002 a0003c0003t0003 a0003c0003t0023 a0003c0003t0039 a0003c0003t0040 a0014c0029t0013 a0016c0019t0004 a0017c0015t0018 a0019c0017t0003 a0021c0022t0004 a0024c0018t0009	a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0006 others(23): Show a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0004g0006 a0001c0001t0004g0036 a0001c0001t0008g0008 a0001c0001t0009g0001 a0001c0001t0015g0001 a0001c0001t0018g0008 a0001c0001t0019g0006 a0001c0001t0034g0006 a0003c0003t0002g0001 a0003c0003t0002g0043 a0003c0003t0003g0001 a0003c0003t0003g0032 a0003c0003t0023g0042 a0003c0003t0039g0001 a0003c0003t0040g0001 a0014c0029t0013g0001 a0016c0019t0004g0006 a0017c0015t0018g0039 a0019c0017t0003g0018 a0021c0022t0004g0035 a0024c0018t0009g0001	58	312	0.1859	17	c.-34 others(28): Show c.-3492_-3491insGCTGAGCTGCGCGGGAT	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding		3463		chr2	TogoVar
RTP5_chr2_241864729_241878823	241866277	C C	CGGGATGC others(10): Show CGGGATGCTGAGCTGCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp1 HG02451.hp2 HG03041.hp2 others(2): Show HG02027.hp1 HG02451.hp2 HG03041.hp2 HG03579.hp2 NA19079.hp2	a0001 a0004 a0008 a0001 a0004 a0008	a0001c0001 a0004c0004 a0008c0008 a0001c0001 a0004c0004 a0008c0008	a0001c0001t0002 a0004c0004t0001 a0008c0008t0006 a0001c0001t0002 a0004c0004t0001 a0008c0008t0006	a0001c0001t0002g0001 a0004c0004t0001g0003 a0008c0008t0006g0011 a0001c0001t0002g0001 a0004c0004t0001g0003 a0008c0008t0006g0011	5	349	0.0143	17	c.-34 others(28): Show c.-3480_-3479insGGGATGCTGAGCTGCGG	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding		3451		chr2	TogoVar
RTP5_chr2_241864729_241878823	241866310	G G	GGGGGGAT others(10): Show GGGGGGATGCTGAGCTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00408.hp2 HG00423.hp1 others(37): Show HG00140.hp2 HG00408.hp2 HG00423.hp1 HG00597.hp1 HG00597.hp2 HG00621.hp2 HG00738.hp1 HG01070.hp2 HG01071.hp1 HG01123.hp1 HG01175.hp1 HG01993.hp2 HG02040.hp2 HG02071.hp1 HG02083.hp2 HG02132.hp2 HG02165.hp1 HG02273.hp1 HG02602.hp1 HG02647.hp2 HG02922.hp2 HG03017.hp1 HG03017.hp2 HG03239.hp2 HG03704.hp2 HG03834.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 NA18942.hp1 NA18970.hp1 NA18980.hp1 NA18985.hp1 NA18991.hp2 NA19004.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20805.hp2	a0001 a0003 a0009 others(3): Show a0001 a0003 a0009 a0014 a0019 a0025	a0001c0001 a0003c0003 a0009c0011 others(3): Show a0001c0001 a0003c0003 a0009c0011 a0014c0029 a0019c0017 a0025c0016	a0001c0001t0002 a0003c0003t0003 a0003c0003t0013 others(5): Show a0001c0001t0002 a0003c0003t0003 a0003c0003t0013 a0003c0003t0039 a0009c0011t0003 a0014c0029t0013 a0019c0017t0003 a0025c0016t0003	a0001c0001t0002g0004 a0003c0003t0003g0001 a0003c0003t0003g0019 others(9): Show a0001c0001t0002g0004 a0003c0003t0003g0001 a0003c0003t0003g0019 a0003c0003t0003g0034 a0003c0003t0003g0040 a0003c0003t0003g0041 a0003c0003t0013g0033 a0003c0003t0039g0001 a0009c0011t0003g0001 a0014c0029t0013g0001 a0019c0017t0003g0018 a0025c0016t0003g0001	40	312	0.1282	17	c.-34 others(28): Show c.-3447_-3446insGGGGGATGCTGAGCTGC	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding		3418		chr2	TogoVar
RTTN_chr18_69998031_70210687	70184716	T T	TTTTTTTT others(10): Show TTTTTTTTTTTTTGTGTG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0004 a0001c0011t0004	a0001c0011t0004g0152 a0001c0011t0004g0152	1	54	0.0185	17	c.130 others(36): Show c.1305+3391_1305+3392insCACACAAAAAAAAAAAA	RTTN	ENSG00000176225.15	transcript	ENST00000640769.2	protein_coding	10/48			chr18	TogoVar
RUFY1_chr5_179545554_179615012	179550536	C C	CCGCCCGC others(10): Show CCGCCCGCCCCCACCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG01069.hp2 HG01071.hp1 others(21): Show HG00280.hp2 HG01069.hp2 HG01071.hp1 HG01123.hp2 HG01358.hp2 HG02040.hp2 HG02083.hp1 HG02109.hp1 HG02132.hp1 HG02602.hp2 HG03017.hp2 HG03239.hp2 HG03688.hp2 HG03704.hp2 HG03927.hp1 NA18941.hp2 NA18947.hp1 NA18988.hp1 NA18991.hp2 NA19005.hp2 NA19010.hp2 NA19078.hp1 NA19240.hp1 NA21309.hp1	a0001 a0004 a0007 a0001 a0004 a0007	a0001c0001 a0001c0004 a0004c0012 others(1): Show a0001c0001 a0001c0004 a0004c0012 a0007c0013	a0001c0001t0001 a0001c0001t0004 a0001c0004t0003 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0004t0003 a0004c0012t0003 a0007c0013t0003	a0001c0001t0001g0171 a0001c0001t0001g0181 a0001c0001t0004g0108 others(21): Show a0001c0001t0001g0171 a0001c0001t0001g0181 a0001c0001t0004g0108 a0001c0004t0003g0172 a0001c0004t0003g0173 a0001c0004t0003g0174 a0001c0004t0003g0175 a0001c0004t0003g0176 a0001c0004t0003g0179 a0001c0004t0003g0180 a0001c0004t0003g0182 a0001c0004t0003g0183 a0001c0004t0003g0184 a0001c0004t0003g0186 a0001c0004t0003g0188 a0001c0004t0003g0189 a0001c0004t0003g0190 a0001c0004t0003g0260 a0001c0004t0003g0261 a0001c0004t0003g0262 a0001c0004t0003g0263 a0001c0004t0003g0264 a0004c0012t0003g0185 a0007c0013t0003g0187	24	198	0.1212	17	c.-34 others(24): Show c.-34_-33insCGCCCGCCCCCACCCCG	RUFY1	ENSG00000176783.15	transcript	ENST00000319449.9	protein_coding		17		chr5	TogoVar
RUFY1_chr5_179545554_179615012	179579657	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00741.hp2 HG01109.hp2 others(10): Show HG00639.hp1 HG00741.hp2 HG01109.hp2 HG01975.hp2 HG02622.hp1 HG02717.hp2 HG02897.hp1 HG03017.hp2 HG03688.hp2 HG03942.hp2 NA18941.hp2 NA18948.hp1 NA19060.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0004c0012	a0001c0001t0001 a0001c0002t0002 a0001c0004t0003 others(1): Show a0001c0001t0001 a0001c0002t0002 a0001c0004t0003 a0004c0012t0003	a0001c0001t0001g0011 a0001c0001t0001g0049 a0001c0001t0001g0092 others(10): Show a0001c0001t0001g0011 a0001c0001t0001g0049 a0001c0001t0001g0092 a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0159 a0001c0002t0002g0158 a0001c0002t0002g0168 a0001c0002t0002g0318 a0001c0004t0003g0173 a0001c0004t0003g0264 a0004c0012t0003g0185	13	60	0.2167	17	c.891 others(34): Show c.891-1284_891-1268dupTTTTTTTTTTTTTTTTT	RUFY1	ENSG00000176783.15	transcript	ENST00000319449.9	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
RUFY3_chr4_70716964_70813619	70733078	A A	AGAGAGAG others(10): Show AGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0054 a0001c0001t0005g0054	1	252	0.0040	17	c.178 others(36): Show c.178+10345_178+10361dupGAGAGAGAGAGAGAGAG	RUFY3	ENSG00000018189.13	transcript	ENST00000381006.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RUFY3_chr4_70716964_70813619	70787214	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0022 a0002c0005t0022	a0002c0005t0022g0011 a0002c0005t0022g0011	1	239	0.0042	17	c.107 others(36): Show c.1072-1592_1072-1591insTATATATATATATATAT	RUFY3	ENSG00000018189.13	transcript	ENST00000381006.8	protein_coding	10/17			chr4	TogoVar
RUFY3_chr4_70716964_70813619	70809218	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0224 a0001c0001t0034g0224	1	174	0.0057	17	c.25 others(28): Show c.2559_*2560insAAAAAAAAAAAAAAAAA	RUFY3	ENSG00000018189.13	transcript	ENST00000381006.8	protein_coding		600		chr4	TogoVar
RUNDC1_chr17_42975565_43000142	42981992	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02559.hp1 HG01891.hp1 HG02559.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0019 a0003c0002t0020 a0003c0002t0019 a0003c0002t0020	a0003c0002t0019g0144 a0003c0002t0020g0145 a0003c0002t0019g0144 a0003c0002t0020g0145	2	16	0.1250	17	c.498 others(32): Show c.498+929_498+930insTTTTTTTTTTTTTTTTT	RUNDC1	ENSG00000198863.8	transcript	ENST00000361677.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr17	TogoVar
RUNDC3B_chr7_87623398_87837296	87626099	T T	TATATTGT others(10): Show TATATTGTCATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0047 a0001c0001t0004g0047	1	178	0.0056	17	c.-27 others(28): Show c.-2725_-2724insATATTGTCATATATATG	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		2298		chr7	TogoVar
RUNX1_chr21_34782801_35054302	34909588	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	104	0.0096	17	c.59- others(34): Show c.59-16642_59-16626dupTTTTTTTTTTTTTTTTT	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
RUSC2_chr9_35485111_35566895	35516022	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00738.hp1 HG01934.hp2 others(3): Show HG00639.hp2 HG00738.hp1 HG01934.hp2 HG02809.hp1 HG03098.hp2 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0003 a0001c0001t0001 a0001c0001t0003 a0001c0002t0003	a0001c0001t0001g0032 a0001c0001t0001g0197 a0001c0001t0001g0198 others(3): Show a0001c0001t0001g0032 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0003g0188 a0001c0001t0003g0189 a0001c0002t0003g0025	6	280	0.0214	17	c.-93 others(36): Show c.-93+25851_-93+25852insAAAAAAAAAAAAAAAGA	RUSC2	ENSG00000198853.12	transcript	ENST00000361226.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr9	TogoVar
RWDD4_chr4_183634635_183664185	183638494	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0060 a0001c0005t0002g0060	1	217	0.0046	17	c.29 others(28): Show c.2941_*2942insTTTTTTTTTTTTTTTTT	RWDD4	ENSG00000182552.15	transcript	ENST00000326397.10	protein_coding		1140		chr4	TogoVar
RWDD4_chr4_183634635_183664185	183643415	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02040.hp2 NA18950.hp2 NA18979.hp1 others(2): Show HG02040.hp2 NA18950.hp2 NA18979.hp1 NA18979.hp2 NA19082.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0004 a0001c0001t0001 a0002c0002t0004	a0001c0001t0001g0129 a0001c0001t0001g0192 a0001c0001t0001g0273 others(2): Show a0001c0001t0001g0129 a0001c0001t0001g0192 a0001c0001t0001g0273 a0001c0001t0001g0407 a0002c0002t0004g0338	5	9	0.5556	17	c.535 others(34): Show c.535-1964_535-1948dupTTTTTTTTTTTTTTTTT	RWDD4	ENSG00000182552.15	transcript	ENST00000326397.10	protein_coding	7/7			chr4	TogoVar
RXFP1_chr4_158516882_158658372	158542109	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp2 HG00733.hp1 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0090 a0001c0001t0001g0020 a0001c0001t0001g0090	2	26	0.0769	17	c.49+ others(34): Show c.49+20085_49+20086insATATATATATATATATT	RXFP1	ENSG00000171509.16	transcript	ENST00000307765.10	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RXFP1_chr4_158516882_158658372	158542109	A A	ATATATAT others(10): Show ATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01517.hp1 HG01074.hp2 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0070 a0001c0001t0001g0065 a0001c0001t0001g0070	2	26	0.0769	17	c.49+ others(34): Show c.49+20085_49+20086insATATATATATATATTTT	RXFP1	ENSG00000171509.16	transcript	ENST00000307765.10	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RXFP1_chr4_158516882_158658372	158623502	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01261.hp1 HG03239.hp2 others(5): Show HG01123.hp2 HG01261.hp1 HG03239.hp2 HG03669.hp2 HG04199.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0077 a0001c0001t0001g0079 others(5): Show a0001c0001t0001g0044 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0122	8	52	0.1538	17	c.756 others(34): Show c.756-3310_756-3294dupAAAAAAAAAAAAAAAAA	RXFP1	ENSG00000171509.16	transcript	ENST00000307765.10	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RXRA_chr9_134321455_134445585	134444443	T T	TCCCCCCC others(10): Show TCCCCCCCTCCTTCCTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01099.hp1 others(1): Show HG01070.hp1 HG01071.hp2 HG01099.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0035 a0001c0001t0006 a0001c0001t0035	a0001c0001t0006g0002 a0001c0001t0006g0021 a0001c0001t0035g0007 a0001c0001t0006g0002 a0001c0001t0006g0021 a0001c0001t0035g0007	4	45	0.0889	17	c.78 others(28): Show c.7829_*7830insCCCCCCCTCCTTCCTTC	RXRA	ENSG00000186350.12	transcript	ENST00000481739.2	protein_coding		3859		chr9	TogoVar
RYK_chr3_134152133_134255859	134249917	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0005	a0003c0004t0005g0012 a0003c0004t0005g0012	1	108	0.0093	17	c.232 others(32): Show c.232+489_232+505dupAAAAAAAAAAAAAAAAA	RYK	ENSG00000163785.14	transcript	ENST00000623711.4	protein_coding	1/14			chr3	TogoVar
RYR1_chr19_38428691_38592564	38520693	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG04199.hp1 HG04204.hp2 others(3): Show HG03942.hp1 HG04199.hp1 HG04204.hp2 HG04228.hp2 NA18970.hp2 NA19084.hp1	a0001 a0006 a0025 a0001 a0006 a0025	a0001c0019 a0001c0022 a0001c0029 others(2): Show a0001c0019 a0001c0022 a0001c0029 a0006c0016 a0025c0060	a0001c0019t0002 a0001c0022t0001 a0001c0029t0001 others(2): Show a0001c0019t0002 a0001c0022t0001 a0001c0029t0001 a0006c0016t0001 a0025c0060t0001	a0001c0019t0002g0217 a0001c0022t0001g0086 a0001c0029t0001g0114 others(3): Show a0001c0019t0002g0217 a0001c0022t0001g0086 a0001c0029t0001g0114 a0006c0016t0001g0087 a0006c0016t0001g0088 a0025c0060t0001g0062	6	119	0.0504	17	c.102 others(38): Show c.10259+1249_10259+1265dupAAAAAAAAAAAAAAAAA	RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding	67/105		INFO_REALIGN_3_PRIME	chr19	TogoVar
RYR1_chr19_38428691_38592564	38590394	A A	AAAAAAAT others(10): Show AAAAAAATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0001 a0002c0012t0001	a0002c0012t0001g0163 a0002c0012t0001g0163	1	109	0.0092	17	c.29 others(28): Show c.2974_*2975insAAAAAATATATATATAT	RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding		2831		chr19	TogoVar
RYR2_chr1_237037184_237838988	237184122	G G	GTAAACCC others(10): Show GTAAACCCAGAGTCAGGT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00741.hp2 HG01099.hp1 others(8): Show HG00738.hp1 HG00741.hp2 HG01099.hp1 HG01109.hp2 HG01496.hp1 HG02486.hp1 HG02559.hp2 HG03209.hp1 HG03453.hp2 HG03486.hp1 NA18522.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0008 a0001c0010 others(8): Show a0001c0002 a0001c0008 a0001c0010 a0001c0016 a0001c0022 a0001c0028 a0001c0037 a0001c0041 a0002c0024 a0002c0039 a0003c0021	a0001c0002t0023 a0001c0008t0024 a0001c0010t0026 others(8): Show a0001c0002t0023 a0001c0008t0024 a0001c0010t0026 a0001c0016t0030 a0001c0022t0009 a0001c0028t0007 a0001c0037t0012 a0001c0041t0006 a0002c0024t0005 a0002c0039t0033 a0003c0021t0001	a0001c0002t0023g0059 a0001c0008t0024g0081 a0001c0010t0026g0051 others(8): Show a0001c0002t0023g0059 a0001c0008t0024g0081 a0001c0010t0026g0051 a0001c0016t0030g0024 a0001c0022t0009g0066 a0001c0028t0007g0062 a0001c0037t0012g0037 a0001c0041t0006g0027 a0002c0024t0005g0013 a0002c0039t0033g0030 a0003c0021t0001g0019	11	100	0.1100	17	c.49- others(34): Show c.49-86372_49-86356dupAACCCAGAGTCAGGTTA	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	1/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237262245	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0034 a0001c0017t0034	a0001c0017t0034g0032 a0001c0017t0034g0032	1	6	0.1667	17	c.49- others(32): Show c.49-8241_49-8225dupTTTTTTTTTTTTTTTTT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	1/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237346367	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0030 a0001c0030	a0001c0030t0005 a0001c0030t0005	a0001c0030t0005g0053 a0001c0030t0005g0053	1	71	0.0141	17	c.274 others(34): Show c.274-9597_274-9581dupAAAAAAAAAAAAAAAAA	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	3/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237408392	T T	TATATATA others(10): Show TATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0032 a0001c0032	a0001c0032t0005 a0001c0032t0005	a0001c0032t0005g0098 a0001c0032t0005g0098	1	52	0.0192	17	c.774 others(34): Show c.774-8657_774-8656insATATATATATATATATA	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	10/104			chr1	TogoVar
RYR2_chr1_237037184_237838988	237420514	T T	TGCCTCTT others(10): Show TGCCTCTTGATACTGTTG	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0004 a0001c0011t0004	a0001c0011t0004g0064 a0001c0011t0004g0064	1	100	0.0100	17	c.849 others(34): Show c.849-2574_849-2573insCTTGATACTGTTGGCCT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	11/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237436454	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01081.hp2 HG01168.hp1 others(12): Show HG00741.hp1 HG01081.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01243.hp1 HG02257.hp2 HG02280.hp2 HG02486.hp1 HG02559.hp2 HG03471.hp1 HG03486.hp2 HG03516.hp1 NA19066.hp2 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(11): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0010 a0001c0019 a0001c0023 a0001c0028 a0001c0030 a0002c0012 a0002c0031 a0003c0043	a0001c0001t0004 a0001c0002t0010 a0001c0003t0001 others(12): Show a0001c0001t0004 a0001c0002t0010 a0001c0003t0001 a0001c0004t0004 a0001c0005t0031 a0001c0007t0001 a0001c0010t0004 a0001c0010t0026 a0001c0019t0019 a0001c0023t0003 a0001c0028t0007 a0001c0030t0005 a0002c0012t0002 a0002c0031t0022 a0003c0043t0002	a0001c0001t0004g0036 a0001c0002t0010g0021 a0001c0003t0001g0063 others(12): Show a0001c0001t0004g0036 a0001c0002t0010g0021 a0001c0003t0001g0063 a0001c0004t0004g0009 a0001c0005t0031g0028 a0001c0007t0001g0020 a0001c0010t0004g0097 a0001c0010t0026g0051 a0001c0019t0019g0035 a0001c0023t0003g0071 a0001c0028t0007g0062 a0001c0030t0005g0053 a0002c0012t0002g0072 a0002c0031t0022g0056 a0003c0043t0002g0068	15	38	0.3947	17	c.100 others(36): Show c.1006-4857_1006-4841dupTTTTTTTTTTTTTTTTT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	12/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237594886	G G	GTTTTTTT others(10): Show GTTTTTTTTTTGTTTTTT	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0020 a0002c0012t0020	a0002c0012t0020g0074 a0002c0012t0020g0074	1	31	0.0323	17	c.443 others(34): Show c.4437-602_4437-601insGTTTTTTTTTTTTTTTT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	33/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237631613	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0040 a0001c0040	a0001c0040t0036 a0001c0040t0036	a0001c0040t0036g0095 a0001c0040t0036g0095	1	6	0.1667	17	c.655 others(33): Show c.6555+88_6555+104dupTTTTTTTTTTTTTTTTT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	42/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237760814	C C	CAATGAAT others(10): Show CAATGAATGGAGACATGT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp2 HG00741.hp2 others(33): Show HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01109.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01243.hp2 HG01256.hp1 HG01261.hp1 HG01261.hp2 HG01928.hp1 HG02055.hp1 HG02293.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02922.hp2 HG03017.hp1 HG03098.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03579.hp1 HG03831.hp1 NA18747.hp1 NA20300.hp1 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0002 a0001c0003 others(22): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0008 a0001c0016 a0001c0017 a0001c0022 a0001c0028 a0001c0041 a0001c0045 a0001c0047 a0001c0049 a0002c0009 a0002c0012 a0002c0031 a0002c0035 a0002c0038 a0002c0039 a0003c0006 a0003c0013 a0003c0021 a0004c0034 a0005c0046	a0001c0001t0001 a0001c0001t0003 a0001c0001t0038 others(31): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0038 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0010 a0001c0002t0023 a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0001c0004t0004 a0001c0007t0016 a0001c0007t0021 a0001c0008t0024 a0001c0016t0030 a0001c0017t0034 a0001c0022t0009 a0001c0028t0007 a0001c0041t0006 a0001c0045t0001 a0001c0047t0002 a0001c0049t0010 a0002c0009t0002 a0002c0012t0002 a0002c0031t0022 a0002c0035t0018 a0002c0038t0040 a0002c0039t0033 a0003c0006t0004 a0003c0013t0003 a0003c0021t0001 a0004c0034t0013 a0005c0046t0012	a0001c0001t0001g0099 a0001c0001t0003g0023 a0001c0001t0003g0088 others(33): Show a0001c0001t0001g0099 a0001c0001t0003g0023 a0001c0001t0003g0088 a0001c0001t0038g0001 a0001c0002t0001g0070 a0001c0002t0002g0076 a0001c0002t0003g0052 a0001c0002t0010g0021 a0001c0002t0023g0059 a0001c0003t0001g0063 a0001c0003t0001g0078 a0001c0003t0002g0090 a0001c0003t0004g0016 a0001c0004t0004g0009 a0001c0007t0016g0042 a0001c0007t0021g0048 a0001c0008t0024g0081 a0001c0016t0030g0024 a0001c0017t0034g0032 a0001c0022t0009g0066 a0001c0028t0007g0062 a0001c0041t0006g0027 a0001c0045t0001g0073 a0001c0047t0002g0077 a0001c0049t0010g0044 a0002c0009t0002g0079 a0002c0012t0002g0072 a0002c0031t0022g0056 a0002c0035t0018g0010 a0002c0038t0040g0096 a0002c0039t0033g0030 a0003c0006t0004g0087 a0003c0013t0003g0086 a0003c0021t0001g0019 a0004c0034t0013g0043 a0005c0046t0012g0080	36	100	0.3600	17	c.114 others(36): Show c.11403-140_11403-124dupAATGAATGGAGACATGT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	83/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR3_chr15_33305967_33871102	33460940	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0010 a0010	a0010c0017 a0010c0017	a0010c0017t0003 a0010c0017t0003	a0010c0017t0003g0017 a0010c0017t0003g0017	1	31	0.0323	17	c.52- others(34): Show c.52-12473_52-12457dupTTTTTTTTTTTTTTTTT	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	1/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33617763	C C	CGAAGAGC others(10): Show CGAAGAGCAAAGCTACAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00558.hp1 HG00738.hp1 others(36): Show HG00408.hp2 HG00558.hp1 HG00738.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01106.hp2 HG01261.hp1 HG01884.hp2 HG01891.hp1 HG02040.hp2 HG02071.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02486.hp1 HG02559.hp1 HG02630.hp1 HG02717.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG03017.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03579.hp2 HG03688.hp2 HG04184.hp2 HG06807.hp2 NA18747.hp2 NA18981.hp2 NA19009.hp2 NA19056.hp2 NA20905.hp2 NA21309.hp1	a0001 a0002 a0005 others(18): Show a0001 a0002 a0005 a0006 a0007 a0008 a0009 a0012 a0014 a0015 a0018 a0020 a0026 a0027 a0029 a0031 a0036 a0037 a0045 a0047 a0052	a0001c0001 a0001c0002 a0001c0003 others(30): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0096 a0001c0098 a0002c0044 a0002c0088 a0002c0091 a0005c0029 a0005c0032 a0006c0048 a0006c0062 a0006c0097 a0007c0021 a0007c0072 a0008c0018 a0009c0054 a0012c0011 a0014c0025 a0015c0059 a0018c0102 a0020c0105 a0026c0117 a0027c0124 a0029c0050 a0031c0052 a0036c0064 a0037c0039 a0045c0045 a0047c0056 a0052c0034	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(33): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0002t0007 a0001c0003t0001 a0001c0004t0001 a0001c0005t0001 a0001c0096t0001 a0001c0098t0001 a0002c0044t0003 a0002c0088t0002 a0002c0091t0003 a0005c0029t0001 a0005c0032t0003 a0006c0048t0004 a0006c0062t0001 a0006c0097t0001 a0007c0021t0001 a0007c0072t0004 a0008c0018t0003 a0009c0054t0001 a0012c0011t0009 a0014c0025t0001 a0015c0059t0001 a0018c0102t0001 a0020c0105t0001 a0026c0117t0002 a0027c0124t0001 a0029c0050t0003 a0031c0052t0001 a0036c0064t0003 a0037c0039t0001 a0045c0045t0002 a0047c0056t0001 a0052c0034t0001	a0001c0001t0001g0044 a0001c0001t0002g0030 a0001c0001t0002g0099 others(36): Show a0001c0001t0001g0044 a0001c0001t0002g0030 a0001c0001t0002g0099 a0001c0002t0001g0043 a0001c0002t0002g0102 a0001c0002t0007g0146 a0001c0003t0001g0006 a0001c0004t0001g0127 a0001c0005t0001g0005 a0001c0005t0001g0117 a0001c0096t0001g0120 a0001c0098t0001g0151 a0002c0044t0003g0105 a0002c0088t0002g0071 a0002c0091t0003g0154 a0005c0029t0001g0075 a0005c0032t0003g0072 a0006c0048t0004g0002 a0006c0062t0001g0108 a0006c0097t0001g0081 a0007c0021t0001g0153 a0007c0072t0004g0045 a0008c0018t0003g0034 a0009c0054t0001g0112 a0012c0011t0009g0067 a0012c0011t0009g0068 a0014c0025t0001g0057 a0015c0059t0001g0063 a0018c0102t0001g0078 a0020c0105t0001g0084 a0026c0117t0002g0123 a0027c0124t0001g0061 a0029c0050t0003g0130 a0031c0052t0001g0137 a0036c0064t0003g0052 a0037c0039t0001g0053 a0045c0045t0002g0134 a0047c0056t0001g0093 a0052c0034t0001g0092	39	152	0.2566	17	c.235 others(36): Show c.2357+4399_2357+4415dupGCTACATGAAGAGCAAA	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	19/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33763892	C C	CAAAAACA others(10): Show CAAAAACAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02280.hp2 HG02451.hp1 others(5): Show HG02258.hp1 HG02280.hp2 HG02451.hp1 HG02717.hp1 HG02976.hp1 HG02976.hp2 HG03579.hp2 NA20129.hp1	a0015 a0026 a0028 others(4): Show a0015 a0026 a0028 a0034 a0039 a0045 a0051	a0015c0059 a0015c0103 a0026c0117 others(5): Show a0015c0059 a0015c0103 a0026c0117 a0028c0114 a0034c0104 a0039c0023 a0045c0045 a0051c0033	a0015c0059t0001 a0015c0103t0002 a0026c0117t0002 others(5): Show a0015c0059t0001 a0015c0103t0002 a0026c0117t0002 a0028c0114t0003 a0034c0104t0002 a0039c0023t0004 a0045c0045t0002 a0051c0033t0003	a0015c0059t0001g0063 a0015c0103t0002g0131 a0026c0117t0002g0123 others(5): Show a0015c0059t0001g0063 a0015c0103t0002g0131 a0026c0117t0002g0123 a0028c0114t0003g0011 a0034c0104t0002g0135 a0039c0023t0004g0065 a0045c0045t0002g0134 a0051c0033t0003g0152	8	56	0.1429	17	c.870 others(36): Show c.8706-4761_8706-4760insCAAAAAAAAAAAAAAAA	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	60/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33789658	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0049 a0049	a0049c0111 a0049c0111	a0049c0111t0001 a0049c0111t0001	a0049c0111t0001g0028 a0049c0111t0001g0028	1	79	0.0127	17	c.983 others(36): Show c.9830+1201_9830+1202insATATATATATATATATT	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(10): Show ATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0010 a0010	a0010c0017 a0010c0017	a0010c0017t0012 a0010c0017t0012	a0010c0017t0012g0079 a0010c0017t0012g0079	1	79	0.0127	17	c.983 others(36): Show c.9830+1201_9830+1202insATATATATATATATTTT	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	67/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33789659	T T	TATATATA others(10): Show TATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0005 a0005	a0005c0040 a0005c0040	a0005c0040t0013 a0005c0040t0013	a0005c0040t0013g0145 a0005c0040t0013g0145	1	130	0.0077	17	c.983 others(36): Show c.9830+1201_9830+1202insATATATATATATATATA	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	67/103			chr15	TogoVar
RYR3_chr15_33305967_33871102	33830520	T T	TTGTAATG others(10): Show TTGTAATGTTCACTTTAC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0027 a0027	a0027c0124 a0027c0124	a0027c0124t0001 a0027c0124t0001	a0027c0124t0001g0061 a0027c0124t0001g0061	1	152	0.0066	17	c.113 others(36): Show c.11335-438_11335-422dupATGTTCACTTTACTGTA	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	85/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
S100A4_chr1_153538621_153550806	153539450	A A	AAAAAAAA others(10): Show AAAAAAAAAAATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	143	0.0070	17	c.43 others(28): Show c.4308_*4309insATATATATTTTTTTTTT	S100A4	ENSG00000196154.12	transcript	ENST00000368716.9	protein_coding		4170		chr1	TogoVar
S100A5_chr1_153532147_153545934	153539450	A A	AAAAAAAA others(10): Show AAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	150	0.0067	17	c.138 others(32): Show c.138+603_138+604insATATATATTTTTTTTTT	S100A5	ENSG00000196420.8	transcript	ENST00000368717.3	protein_coding	2/2			chr1	TogoVar
S100B_chr21_46593604_46610082	46603392	A A	AGGGGGTG others(10): Show AGGGGGTGGGGGGGGAGG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03209.hp1 HG02559.hp2 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0054 a0001c0002t0007g0054	2	42	0.0476	17	c.-1- others(30): Show c.-1-977_-1-976insCCTCCCCCCCCACCCCC	S100B	ENSG00000160307.10	transcript	ENST00000291700.9	protein_coding	1/2			chr21	TogoVar
S100B_chr21_46593604_46610082	46603398	T T	TGGGGGGA others(10): Show TGGGGGGAGGGGGGGGGC	intron_variant intron_variant	MODIFIER	HG00408.hp2 NA20129.hp2 HG00408.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0131 a0001c0002t0002g0078 a0001c0001t0001g0131 a0001c0002t0002g0078	2	412	0.0049	17	c.-1- others(30): Show c.-1-983_-1-982insGCCCCCCCCCTCCCCCC	S100B	ENSG00000160307.10	transcript	ENST00000291700.9	protein_coding	1/2			chr21	TogoVar
SAA1_chr11_18261264_18274967	18264805	A A	AGGGGAGG others(10): Show AGGGGAGGGGAGGGGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG01070.hp1 HG02145.hp2 others(8): Show HG00735.hp2 HG01070.hp1 HG02145.hp2 HG02258.hp1 HG02258.hp2 HG02818.hp2 HG02895.hp2 HG02897.hp2 HG06807.hp2 NA18906.hp2 NA20129.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0007 a0002c0005t0001g0027 a0002c0005t0001g0057 others(1): Show a0002c0005t0001g0007 a0002c0005t0001g0027 a0002c0005t0001g0057 a0002c0005t0001g0058	11	435	0.0253	17	c.-14 others(28): Show c.-1496_-1495insGGGGAGGGGAGGGGAGG	SAA1	ENSG00000173432.13	transcript	ENST00000356524.9	protein_coding		1458		chr11	TogoVar
SAA2_chr11_18240240_18253668	18251886	C C	CTTTCTTT others(10): Show CTTTCTTTCTTTCTTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19059.hp2 NA19059.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	472	0.0021	17	c.-32 others(28): Show c.-3289_-3288insAGAAAGAAAGAAAGAAA	SAA2	ENSG00000134339.9	transcript	ENST00000256733.9	protein_coding		3219		chr11	TogoVar
SAAL1_chr11_18075292_18111082	18076631	A A	AGAAAGAA others(10): Show AGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00733.hp2 others(8): Show HG00099.hp2 HG00323.hp1 HG00733.hp2 HG01099.hp1 HG01257.hp2 HG01361.hp1 HG02015.hp2 HG02683.hp1 HG03239.hp1 NA18968.hp2 NA20300.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0009 a0003c0003t0001g0012 a0003c0003t0001g0039 others(2): Show a0003c0003t0001g0009 a0003c0003t0001g0012 a0003c0003t0001g0039 a0003c0003t0001g0112 a0003c0003t0001g0118	11	231	0.0476	17	c.37 others(28): Show c.3767_*3768insCTTTCTTTCTTTCTTTC	SAAL1	ENSG00000166788.10	transcript	ENST00000524803.6	protein_coding		3660		chr11	TogoVar
SAC3D1_chr11_65036210_65049828	65039029	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02897.hp1 HG03041.hp2 HG02897.hp1 HG03041.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0012 a0001c0002t0001g0042 a0001c0002t0001g0012 a0001c0002t0001g0042	2	173	0.0116	17	c.-22 others(28): Show c.-2264_-2263insTTTTTTTTTTTTTTTTT	SAC3D1	ENSG00000168061.17	transcript	ENST00000652489.1	protein_coding		2180		chr11	TogoVar

Search by Variant

Search

Search Results