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
RTN4_chr2_54967189_55055451	55022896	A A	AACACACA others(19): Show AACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02148.hp1 NA18952.hp1 NA18953.hp1 others(3): Show HG02148.hp1 NA18952.hp1 NA18953.hp1 NA18963.hp1 NA18989.hp1 NA19054.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0003 a0001c0001t0001 a0002c0002t0003	a0001c0001t0001g0226 a0001c0001t0001g0235 a0001c0001t0001g0236 others(3): Show a0001c0001t0001g0226 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0256 a0002c0002t0003g0027 a0002c0002t0003g0032	6	149	0.0403	26	c.301 others(45): Show c.3013+2164_3013+2189dupGTGTGTGTGTGTGTGTGTGTGTGTGT	RTN4	ENSG00000115310.19	transcript	ENST00000337526.11	protein_coding	3/8			chr2	TogoVar
RUFY2_chr10_68338408_68412277	68366759	T T	TATATATA others(19): Show TATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG03942.hp1 NA18961.hp1 NA19066.hp1 HG03942.hp1 NA18961.hp1 NA19066.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0230 a0001c0002t0002g0236 a0001c0002t0002g0244 a0001c0002t0002g0230 a0001c0002t0002g0236 a0001c0002t0002g0244	3	221	0.0136	26	c.132 others(45): Show c.1326-2647_1326-2646insTTATATATATATATATATATATATAT	RUFY2	ENSG00000204130.14	transcript	ENST00000602465.6	protein_coding	13/17			chr10	TogoVar
RUFY3_chr4_70716964_70813619	70774644	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0250 a0001c0001t0008g0250	1	115	0.0087	26	c.759 others(41): Show c.759-523_759-522insAAAAAAAAAAAAAAAATATATATATA	RUFY3	ENSG00000018189.13	transcript	ENST00000381006.8	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RUFY3_chr4_70716964_70813619	70787187	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0222 a0001c0001t0019g0222	1	93	0.0108	26	c.107 others(45): Show c.1072-1618_1072-1617insAAAAAAAAAAAAAAAATATATATATA	RUFY3	ENSG00000018189.13	transcript	ENST00000381006.8	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RUNDC3B_chr7_87623398_87837296	87626091	T T	TATATATA others(19): Show TATATATATATCTCATATATATGTGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0072 a0001c0001t0072	a0001c0001t0072g0009 a0001c0001t0072g0009	1	143	0.0070	26	c.-27 others(37): Show c.-2733_-2732insATATATATATCTCATATATATGTGTC	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		2306		chr7	TogoVar
RUNDC3B_chr7_87623398_87837296	87626198	A A	ATTGTCAT others(19): Show ATTGTCATATATATGTGTCATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0048 a0001c0001t0029g0048	1	79	0.0127	26	c.-26 others(37): Show c.-2626_-2625insTTGTCATATATATGTGTCATATATAT	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		2199		chr7	TogoVar
RUNDC3B_chr7_87623398_87837296	87626222	A A	ATTGTCAT others(19): Show ATTGTCATATATATGTGTCATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	89	0.0112	26	c.-26 others(37): Show c.-2602_-2601insTTGTCATATATATGTGTCATATATAT	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		2175		chr7	TogoVar
RUNDC3B_chr7_87623398_87837296	87626336	G G	GTATATGT others(19): Show GTATATGTGTCATATATATGTGTCATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0123 a0001c0001t0008g0123	1	47	0.0213	26	c.-24 others(37): Show c.-2488_-2487insTATATGTGTCATATATATGTGTCATA	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		2061		chr7	TogoVar
RUNDC3B_chr7_87623398_87837296	87626535	C C	CATATATG others(19): Show CATATATGTGTCATATATATGTGTCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0125 a0001c0001t0005g0125	1	60	0.0167	26	c.-22 others(37): Show c.-2289_-2288insATATATGTGTCATATATATGTGTCAT	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		1862		chr7	TogoVar
RUNDC3B_chr7_87623398_87837296	87652621	G G	GATATATA others(19): Show GATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01192.hp1 HG02647.hp2 others(6): Show HG01123.hp1 HG01192.hp1 HG02647.hp2 HG02717.hp1 HG03225.hp2 HG03579.hp1 NA18974.hp1 NA19005.hp2 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0010 a0001c0001t0021 others(5): Show a0001c0001t0006 a0001c0001t0010 a0001c0001t0021 a0001c0001t0022 a0001c0001t0027 a0001c0001t0035 a0001c0001t0046 a0001c0001t0047	a0001c0001t0006g0186 a0001c0001t0010g0008 a0001c0001t0010g0010 others(6): Show a0001c0001t0006g0186 a0001c0001t0010g0008 a0001c0001t0010g0010 a0001c0001t0021g0028 a0001c0001t0022g0181 a0001c0001t0027g0180 a0001c0001t0035g0034 a0001c0001t0046g0161 a0001c0001t0047g0172	9	94	0.0957	26	c.238 others(43): Show c.238+1709_238+1710insTATATATATATATATATATATATATA	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
RUNX1T1_chr8_91949972_92108385	92060553	A A	ATATATAT others(19): Show ATATATATATATATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG03491.hp2 NA20805.hp2 HG01255.hp2 HG03491.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0052 a0001c0001t0085 a0001c0001t0049 a0001c0001t0052 a0001c0001t0085	a0001c0001t0049g0040 a0001c0001t0052g0035 a0001c0001t0085g0036 a0001c0001t0049g0040 a0001c0001t0052g0035 a0001c0001t0085g0036	3	59	0.0508	26	c.88+ others(43): Show c.88+15411_88+15412insCACACACACACACATATATATATATA	RUNX1T1	ENSG00000079102.18	transcript	ENST00000523629.7	protein_coding	2/11			chr8	TogoVar
RUNX1T1_chr8_91949972_92108385	92060553	A A	ATATATAT others(19): Show ATATATATATGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02970.hp1 HG02055.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0030 a0001c0004t0034 a0001c0001t0030 a0001c0004t0034	a0001c0001t0030g0001 a0001c0004t0034g0002 a0001c0001t0030g0001 a0001c0004t0034g0002	2	58	0.0345	26	c.88+ others(43): Show c.88+15411_88+15412insCACACACACACACACACATATATATA	RUNX1T1	ENSG00000079102.18	transcript	ENST00000523629.7	protein_coding	2/11			chr8	TogoVar
RUNX1_chr21_34782801_35054302	34909588	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0126 a0001c0001t0004g0126	1	104	0.0096	26	c.59- others(43): Show c.59-16626_59-16625insTTTTTTTTTTTTTTTTTTTTTTTTTT	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
RUNX1_chr21_34782801_35054302	34930270	G G	GTGTGTAT others(19): Show GTGTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	106	0.0094	26	c.59- others(43): Show c.59-37308_59-37307insTATATATATATATATATATATACACA	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
RUNX1_chr21_34782801_35054302	34930270	G G	GTGTGTGT others(19): Show GTGTGTGTGTGTGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	106	0.0094	26	c.59- others(43): Show c.59-37308_59-37307insTATATATATATATACACACACACACA	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
RUNX1_chr21_34782801_35054302	34967319	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01934.hp1 NA20300.hp2 HG01934.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0052 a0001c0001t0004g0130 a0001c0001t0002g0052 a0001c0001t0004g0130	2	15	0.1333	26	c.59- others(43): Show c.59-74382_59-74357dupTTTTTTTTTTTTTTTTTTTTTTTTTT	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
RUNX2_chr6_45323330_45556082	45485695	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00609.hp1 HG01069.hp2 others(7): Show HG00280.hp1 HG00609.hp1 HG01069.hp2 HG01071.hp2 HG03491.hp2 HG03492.hp2 NA19063.hp1 NA19064.hp1 NA19082.hp1 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0002t0006	a0001c0001t0001g0041 a0001c0001t0001g0085 a0001c0001t0001g0095 others(7): Show a0001c0001t0001g0041 a0001c0001t0001g0085 a0001c0001t0001g0095 a0001c0001t0001g0106 a0001c0001t0003g0043 a0001c0001t0003g0103 a0001c0001t0003g0146 a0001c0001t0006g0001 a0001c0002t0006g0015 a0001c0002t0006g0016	10	122	0.0820	26	c.686 others(43): Show c.686-6245_686-6244insATATATATATATATATATATATATAT	RUNX2	ENSG00000124813.23	transcript	ENST00000647337.2	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
RUNX2_chr6_45323330_45556082	45485697	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01978.hp1 NA18990.hp1 HG01891.hp2 HG01978.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0079 a0001c0001t0001g0162 a0001c0001t0002g0173 a0001c0001t0001g0079 a0001c0001t0001g0162 a0001c0001t0002g0173	3	71	0.0423	26	c.686 others(43): Show c.686-6224_686-6223insTATATATATATATATATATATATATA	RUNX2	ENSG00000124813.23	transcript	ENST00000647337.2	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
RUNX2_chr6_45323330_45556082	45485697	G G	GTGTGTAT others(19): Show GTGTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02723.hp2 NA19240.hp2 HG02723.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0125 a0001c0001t0008g0161 a0001c0001t0001g0125 a0001c0001t0008g0161	2	70	0.0286	26	c.686 others(43): Show c.686-6243_686-6242insGTGTATATATATATATATATATATAT	RUNX2	ENSG00000124813.23	transcript	ENST00000647337.2	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
RWDD4_chr4_183634635_183664185	183643415	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG02818.hp1 HG03654.hp2 HG01516.hp1 HG02818.hp1 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0101 a0001c0001t0001g0153 a0001c0001t0001g0090 a0001c0001t0001g0101 a0001c0001t0001g0153	3	7	0.4286	26	c.535 others(43): Show c.535-1973_535-1948dupTTTTTTTTTTTTTTTTTTTTTTTTTT	RWDD4	ENSG00000182552.15	transcript	ENST00000326397.10	protein_coding	7/7			chr4	TogoVar
RXFP1_chr4_158516882_158658372	158527560	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	208	0.0048	26	c.49+ others(41): Show c.49+5536_49+5537insTATATATATATATATATATATATATA	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(19): Show ATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG02698.hp2 NA19056.hp2 HG02698.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0121 a0001c0001t0001g0015 a0001c0001t0001g0121	2	26	0.0769	26	c.49+ others(43): Show c.49+20085_49+20086insATATATATATATATATATATATTTTT	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(19): Show ATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03239.hp2 NA18986.hp1 HG02886.hp2 HG03239.hp2 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0122 a0001c0001t0001g0139 a0001c0001t0001g0096 a0001c0001t0001g0122 a0001c0001t0001g0139	3	27	0.1111	26	c.49+ others(43): Show c.49+20085_49+20086insATATATATATATATATATATTTTTTT	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(19): Show ATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0116 a0001c0001t0002g0116	1	25	0.0400	26	c.49+ others(43): Show c.49+20085_49+20086insATATATATATATATATTTTTTTTTTT	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(19): Show ATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0115 a0001c0001t0002g0115	1	25	0.0400	26	c.49+ others(43): Show c.49+20085_49+20086insATATATATATATATTTTTTTTTTTTT	RXFP1	ENSG00000171509.16	transcript	ENST00000307765.10	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RXRA_chr9_134321455_134445585	134388286	T T	TGTGTGTG others(19): Show TGTGTGTGTGTGTGTGTGTGTGTGTGA	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01243.hp1 HG02451.hp1 others(1): Show HG01169.hp2 HG01243.hp1 HG02451.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0008 a0001c0001t0059 others(1): Show a0001c0001t0003 a0001c0001t0008 a0001c0001t0059 a0001c0002t0002	a0001c0001t0003g0166 a0001c0001t0008g0037 a0001c0001t0059g0210 others(1): Show a0001c0001t0003g0166 a0001c0001t0008g0037 a0001c0001t0059g0210 a0001c0002t0002g0008	4	42	0.0952	26	c.29- others(43): Show c.29-13339_29-13338insTGTGTGTGTGTGTGTGTGAGTGTGTG	RXRA	ENSG00000186350.12	transcript	ENST00000481739.2	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
RYR1_chr19_38428691_38592564	38520693	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0002 a0005c0007t0002	a0005c0007t0002g0202 a0005c0007t0002g0202	1	114	0.0088	26	c.102 others(47): Show c.10259+1240_10259+1265dupAAAAAAAAAAAAAAAAAAAAAAAA AA	RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding	67/105		INFO_REALIGN_3_PRIME	chr19	TogoVar
RYR2_chr1_237037184_237838988	237148531	T T	TATATATA others(19): Show TATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0016 a0001c0007t0016	a0001c0007t0016g0042 a0001c0007t0016g0042	1	99	0.0101	26	c.48+ others(45): Show c.48+105981_48+105982insCACACACATATATATATATATATATA	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	1/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237148533	T T	TATATATA others(19): Show TATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03209.hp1 HG01109.hp2 HG03209.hp1	a0001 a0001	a0001c0008 a0001c0022 a0001c0008 a0001c0022	a0001c0008t0024 a0001c0022t0009 a0001c0008t0024 a0001c0022t0009	a0001c0008t0024g0081 a0001c0022t0009g0066 a0001c0008t0024g0081 a0001c0022t0009g0066	2	79	0.0253	26	c.48+ others(45): Show c.48+105983_48+105984insCACACACATATATATATATATATATA	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	1/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237436454	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01361.hp1 HG01169.hp2 HG01361.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0009 a0001c0003 a0002c0009	a0001c0003t0005 a0002c0009t0002 a0001c0003t0005 a0002c0009t0002	a0001c0003t0005g0018 a0002c0009t0002g0079 a0001c0003t0005g0018 a0002c0009t0002g0079	2	25	0.0800	26	c.100 others(45): Show c.1006-4841_1006-4840insTTTTTTTTTTTTTTTTTTTTTTTTTT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	12/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237473431	C C	CTTTCTTT others(19): Show CTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0009 a0001c0022t0009	a0001c0022t0009g0066 a0001c0022t0009g0066	1	41	0.0244	26	c.170 others(45): Show c.1708+4245_1708+4246insTTCTTTCTTTCTTTCTTTCTTTCTTT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	17/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237623385	T T	TTCTTTCT others(19): Show TTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02523.hp2 HG03098.hp1 others(2): Show HG01243.hp2 HG02523.hp2 HG03098.hp1 HG03579.hp1 NA19066.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0011 a0001c0049 others(1): Show a0001c0002 a0001c0011 a0001c0049 a0002c0009	a0001c0002t0001 a0001c0011t0041 a0001c0049t0010 others(2): Show a0001c0002t0001 a0001c0011t0041 a0001c0049t0010 a0002c0009t0004 a0002c0009t0008	a0001c0002t0001g0070 a0001c0011t0041g0054 a0001c0049t0010g0044 others(2): Show a0001c0002t0001g0070 a0001c0011t0041g0054 a0001c0049t0010g0044 a0002c0009t0004g0067 a0002c0009t0008g0040	5	82	0.0610	26	c.591 others(43): Show c.5917-379_5917-378insCTTTCTTTCTTTCTTTCTTTCTTTCT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	38/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237641473	C C	CTTTCTTT others(19): Show CTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0009 a0001c0004t0004g0009	1	100	0.0100	26	c.722 others(43): Show c.7221+473_7221+498dupTTCTTTCTTTCTTTCTTTCTTTCTTT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	47/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR3_chr15_33305967_33871102	33432668	T T	TTGTGTGT others(19): Show TTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0023 a0023	a0023c0107 a0023c0107	a0023c0107t0003 a0023c0107t0003	a0023c0107t0003g0003 a0023c0107t0003g0003	1	31	0.0323	26	c.52- others(43): Show c.52-40747_52-40722dupGTGTGTGTGTGTGTGTGTGTGTGTGT	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	1/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33464467	T T	TATATATA others(19): Show TATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0013 a0013	a0013c0057 a0013c0057	a0013c0057t0003 a0013c0057t0003	a0013c0057t0003g0082 a0013c0057t0003g0082	1	152	0.0066	26	c.52- others(41): Show c.52-8940_52-8915dupTATATATATATACACATATATATATA	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	1/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33464489	T T	TATATATA others(19): Show TATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0051 a0001c0010t0001g0142 a0001c0010t0001g0051 a0001c0010t0001g0142	2	130	0.0154	26	c.52- others(41): Show c.52-8929_52-8928insTATATATATATATATATACACACACA	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	1/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33464489	T T	TATATATA others(19): Show TATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0036 a0036	a0036c0064 a0036c0064	a0036c0064t0003 a0036c0064t0003	a0036c0064t0003g0052 a0036c0064t0003g0052	1	129	0.0078	26	c.52- others(41): Show c.52-8929_52-8928insTATATATATATATATATATACACACA	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	1/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33464499	T T	TATATATA others(19): Show TATATATATATATATATATACACATAC	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	124	0.0081	26	c.52- others(41): Show c.52-8915_52-8914insTATATATATATATACACATACATATA	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	1/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33664587	G G	GTATGTAT others(19): Show GTATGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0003 a0003	a0003c0121 a0003c0121	a0003c0121t0008 a0003c0121t0008	a0003c0121t0008g0062 a0003c0121t0008g0062	1	147	0.0068	26	c.561 others(43): Show c.5619+851_5619+852insATGTATATATATATATATATATATAT	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	36/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33664589	G G	GTGTGTGT others(19): Show GTGTGTGTGTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0046 a0046	a0046c0109 a0046c0109	a0046c0109t0005 a0046c0109t0005	a0046c0109t0005g0040 a0046c0109t0005g0040	1	30	0.0333	26	c.561 others(43): Show c.5619+853_5619+854insGTGTGTGTGTATATATATATATATAT	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	36/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33664614	T T	TATATATA others(19): Show TATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0005 a0005	a0005c0030 a0005c0030	a0005c0030t0001 a0005c0030t0001	a0005c0030t0001g0007 a0005c0030t0001g0007	1	119	0.0084	26	c.561 others(43): Show c.5619+878_5619+879insTATATATATATATATATATATATACA	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	36/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33705101	T T	TTCTCTCT others(19): Show TTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0027 a0027	a0027c0124 a0027c0124	a0027c0124t0001 a0027c0124t0001	a0027c0124t0001g0061 a0027c0124t0001g0061	1	11	0.0909	26	c.648 others(45): Show c.6484-1809_6484-1784dupTCTCTCTCTCTCTCTCTCTCTCTCTC	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	42/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33725180	C C	CACACACA others(19): Show CACACACACACACACACACACATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02486.hp2 HG02738.hp2 others(6): Show HG01081.hp1 HG02486.hp2 HG02738.hp2 NA18964.hp1 NA18964.hp2 NA18983.hp1 NA19005.hp1 NA19056.hp2 NA19067.hp1	a0001 a0004 a0008 others(2): Show a0001 a0004 a0008 a0020 a0030	a0001c0001 a0001c0003 a0001c0013 others(5): Show a0001c0001 a0001c0003 a0001c0013 a0001c0101 a0004c0016 a0008c0018 a0020c0105 a0030c0100	a0001c0001t0005 a0001c0003t0002 a0001c0013t0001 others(6): Show a0001c0001t0005 a0001c0003t0002 a0001c0013t0001 a0001c0013t0005 a0001c0101t0001 a0004c0016t0002 a0008c0018t0003 a0020c0105t0001 a0030c0100t0001	a0001c0001t0005g0008 a0001c0003t0002g0037 a0001c0013t0001g0026 others(6): Show a0001c0001t0005g0008 a0001c0003t0002g0037 a0001c0013t0001g0026 a0001c0013t0005g0085 a0001c0101t0001g0128 a0004c0016t0002g0103 a0008c0018t0003g0034 a0020c0105t0001g0084 a0030c0100t0001g0021	9	138	0.0652	26	c.691 others(45): Show c.6912+1025_6912+1026insTATATACACACACACACACACACACA	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	45/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
S100B_chr21_46593604_46610082	46603392	A A	AGGGGGTG others(19): Show AGGGGGTGGGGGGAGGGGGGGCGGGGG	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18973.hp2 NA18951.hp1 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0145 a0001c0001t0001g0059 a0001c0001t0001g0145	2	42	0.0476	26	c.-1- others(39): Show c.-1-977_-1-976insCCCCCGCCCCCCCTCCCCCCACCCCC	S100B	ENSG00000160307.10	transcript	ENST00000291700.9	protein_coding	1/2			chr21	TogoVar
S100B_chr21_46593604_46610082	46603392	A A	AGGGGGTG others(19): Show AGGGGGTGGGGGGAGGGGGGGGGCGGG	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	41	0.0244	26	c.-1- others(39): Show c.-1-977_-1-976insCCCGCCCCCCCCCTCCCCCCACCCCC	S100B	ENSG00000160307.10	transcript	ENST00000291700.9	protein_coding	1/2			chr21	TogoVar
S100B_chr21_46593604_46610082	46603392	A A	AGGGGGTG others(19): Show AGGGGGTGGGGGGTGGGGGGGGCGGGG	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01106.hp1 HG02735.hp1 HG00733.hp1 HG01106.hp1 HG02735.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0119 a0001c0002t0001g0129 a0001c0002t0002g0118 a0001c0002t0001g0119 a0001c0002t0001g0129 a0001c0002t0002g0118	3	43	0.0698	26	c.-1- others(39): Show c.-1-977_-1-976insCCCCGCCCCCCCCACCCCCCACCCCC	S100B	ENSG00000160307.10	transcript	ENST00000291700.9	protein_coding	1/2			chr21	TogoVar
S100PBP_chr1_32812653_32863875	32824827	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03209.hp1 NA18522.hp1 HG02647.hp2 HG03209.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0003 a0001c0001t0008	a0001c0001t0003g0252 a0001c0001t0003g0263 a0001c0001t0008g0273 a0001c0001t0003g0252 a0001c0001t0003g0263 a0001c0001t0008g0273	3	21	0.1429	26	c.-11 others(43): Show c.-119-467_-119-466insTATATATATATATATATATATATATA	S100PBP	ENSG00000116497.18	transcript	ENST00000373475.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
S100P_chr4_6688878_6702170	6692105	G G	GTGTGTAT others(19): Show GTGTGTATATATGTGTGTATACATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	480	0.0021	26	c.-18 others(37): Show c.-1828_-1827insTGTGTATATATGTGTGTATACATATA	S100P	ENSG00000163993.7	transcript	ENST00000296370.4	protein_coding		1772		chr4	TogoVar
SAC3D1_chr11_65036210_65049828	65039029	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 HG02004.hp2 HG01081.hp1 HG02004.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	2	173	0.0116	26	c.-22 others(37): Show c.-2264_-2263insTTTTTTTTTTTTTTTTTTTTTTTTTT	SAC3D1	ENSG00000168061.17	transcript	ENST00000652489.1	protein_coding		2180		chr11	TogoVar
SACM1L_chr3_45684396_45750409	45686636	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0032 a0001c0002t0002g0032	1	320	0.0031	26	c.-28 others(37): Show c.-2830_-2829insATATATATATATATATATATATATAT	SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding		2759		chr3	TogoVar

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