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
RXFP1_chr4_158516882_158658372	158542109	A A	ATATATAT others(15): Show ATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0205 a0001c0001t0004g0205	1	25	0.0400	22	c.49+ others(39): Show c.49+20085_49+20086insATATATATATATTTTTTTTTTT	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(15): Show TGTGTGTGTGTGTGTGTGTGTGA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01109.hp1 HG01255.hp2 others(36): Show HG00621.hp2 HG01109.hp1 HG01255.hp2 HG01257.hp2 HG01884.hp1 HG02027.hp2 HG02055.hp2 HG02148.hp1 HG02257.hp2 HG02258.hp1 HG02486.hp1 HG02615.hp2 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03195.hp2 HG03486.hp1 HG03540.hp1 HG03704.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA19068.hp1 NA19084.hp1 NA19090.hp1 NA19240.hp1 NA20300.hp2 NA20752.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0016 a0001c0001t0020 a0001c0001t0022 a0001c0001t0025 a0001c0001t0026 a0001c0001t0039 a0001c0001t0045 a0001c0001t0047 a0001c0001t0056 a0001c0001t0058 a0001c0001t0062 a0001c0002t0040 a0001c0004t0005 a0001c0005t0001	a0001c0001t0001g0022 a0001c0001t0001g0084 a0001c0001t0001g0093 others(35): Show a0001c0001t0001g0022 a0001c0001t0001g0084 a0001c0001t0001g0093 a0001c0001t0001g0113 a0001c0001t0001g0118 a0001c0001t0001g0145 a0001c0001t0002g0185 a0001c0001t0004g0005 a0001c0001t0004g0153 a0001c0001t0004g0160 a0001c0001t0004g0225 a0001c0001t0007g0035 a0001c0001t0008g0087 a0001c0001t0008g0125 a0001c0001t0009g0157 a0001c0001t0010g0101 a0001c0001t0010g0213 a0001c0001t0012g0038 a0001c0001t0012g0151 a0001c0001t0012g0159 a0001c0001t0012g0162 a0001c0001t0016g0115 a0001c0001t0016g0155 a0001c0001t0016g0207 a0001c0001t0020g0154 a0001c0001t0020g0182 a0001c0001t0022g0208 a0001c0001t0025g0158 a0001c0001t0026g0127 a0001c0001t0039g0206 a0001c0001t0045g0161 a0001c0001t0047g0116 a0001c0001t0056g0143 a0001c0001t0058g0117 a0001c0001t0062g0120 a0001c0002t0040g0040 a0001c0004t0005g0126 a0001c0005t0001g0193	39	77	0.5065	22	c.29- others(39): Show c.29-13339_29-13338insTGTGTGTGTGTGTGAGTGTGTG	RXRA	ENSG00000186350.12	transcript	ENST00000481739.2	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
RYK_chr3_134152133_134255859	134249917	G G	GTTTTTTT others(15): Show GTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	108	0.0093	22	c.232 others(37): Show c.232+484_232+505dupAAAAAAAAAAAAAAAAAAAAAA	RYK	ENSG00000163785.14	transcript	ENST00000623711.4	protein_coding	1/14			chr3	TogoVar
RYR2_chr1_237037184_237838988	237082524	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0082 a0001c0001t0007g0082	1	11	0.0909	22	c.48+ others(39): Show c.48+39967_48+39988dupTATATATATATATATATATATA	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	1/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237209497	A A	ATGTGTGT others(15): Show ATGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG04228.hp1 HG04228.hp2 HG02280.hp1 HG04228.hp1 HG04228.hp2	a0001 a0001	a0001c0003 a0001c0007 a0001c0040 a0001c0003 a0001c0007 a0001c0040	a0001c0003t0002 a0001c0007t0003 a0001c0040t0036 a0001c0003t0002 a0001c0007t0003 a0001c0040t0036	a0001c0003t0002g0065 a0001c0007t0003g0057 a0001c0040t0036g0095 a0001c0003t0002g0065 a0001c0007t0003g0057 a0001c0040t0036g0095	3	35	0.0857	22	c.49- others(39): Show c.49-60983_49-60982insGTGTGTGTGTGTGTGTGTGTGT	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(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00738.hp2 HG02055.hp2 others(1): Show HG00408.hp2 HG00738.hp2 HG02055.hp2 NA19043.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0005 a0001c0008 others(1): Show a0001c0001 a0001c0005 a0001c0008 a0003c0006	a0001c0001t0015 a0001c0005t0013 a0001c0008t0039 others(1): Show a0001c0001t0015 a0001c0005t0013 a0001c0008t0039 a0003c0006t0004	a0001c0001t0015g0069 a0001c0005t0013g0061 a0001c0008t0039g0002 others(1): Show a0001c0001t0015g0069 a0001c0005t0013g0061 a0001c0008t0039g0002 a0003c0006t0004g0087	4	74	0.0541	22	c.274 others(39): Show c.274-9581_274-9580insAAAAAAAAAAAAAAAAAAAAAA	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	3/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237408392	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02486.hp1 HG02572.hp1 others(1): Show HG02280.hp2 HG02486.hp1 HG02572.hp1 HG04228.hp1	a0001 a0002 a0001 a0002	a0001c0007 a0001c0010 a0002c0038 a0001c0007 a0001c0010 a0002c0038	a0001c0007t0003 a0001c0010t0004 a0001c0010t0026 others(1): Show a0001c0007t0003 a0001c0010t0004 a0001c0010t0026 a0002c0038t0040	a0001c0007t0003g0057 a0001c0010t0004g0097 a0001c0010t0026g0051 others(1): Show a0001c0007t0003g0057 a0001c0010t0004g0097 a0001c0010t0026g0051 a0002c0038t0040g0096	4	55	0.0727	22	c.774 others(39): Show c.774-8643_774-8642insTATATATATATATATATATATA	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	10/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237481108	A A	ATATGTAT others(15): Show ATATGTATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02572.hp2 HG03098.hp2 HG02055.hp1 HG02572.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0038 a0001c0002t0028 a0001c0001t0001 a0001c0001t0038 a0001c0002t0028	a0001c0001t0001g0099 a0001c0001t0038g0001 a0001c0002t0028g0033 a0001c0001t0001g0099 a0001c0001t0038g0001 a0001c0002t0028g0033	3	67	0.0448	22	c.170 others(43): Show c.1709-10695_1709-10694insGTATATATATATATATATGTAT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	17/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237546976	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01496.hp2 HG01261.hp1 HG01496.hp2	a0001 a0003 a0001 a0003	a0001c0003 a0003c0013 a0001c0003 a0003c0013	a0001c0003t0003 a0003c0013t0003 a0001c0003t0003 a0003c0013t0003	a0001c0003t0003g0084 a0003c0013t0003g0086 a0001c0003t0003g0084 a0003c0013t0003g0086	2	54	0.0370	22	c.290 others(41): Show c.2907-1435_2907-1434insATATATATATATATATATATAT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	25/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237594886	G G	GTTTTTTT others(15): Show GTTTTTTTTGTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0044 a0001c0044	a0001c0044t0002 a0001c0044t0002	a0001c0044t0002g0014 a0001c0044t0002g0014	1	31	0.0323	22	c.443 others(39): Show c.4437-604_4437-603insGTTTTTTTTTTTTTTTTTTTTT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	33/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237623385	T T	TTCTTTCT others(15): Show TTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01169.hp1 HG01496.hp1 others(9): Show HG00741.hp2 HG01169.hp1 HG01496.hp1 HG02257.hp1 HG02280.hp1 HG02922.hp1 HG03195.hp1 HG03453.hp1 HG03579.hp2 NA18747.hp2 NA20300.hp2 NA21309.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0011 a0001c0014 others(9): Show a0001c0001 a0001c0011 a0001c0014 a0001c0015 a0001c0023 a0001c0026 a0001c0040 a0002c0012 a0002c0024 a0002c0025 a0002c0039 a0005c0046	a0001c0001t0006 a0001c0011t0004 a0001c0014t0032 others(9): Show a0001c0001t0006 a0001c0011t0004 a0001c0014t0032 a0001c0015t0006 a0001c0023t0003 a0001c0026t0004 a0001c0040t0036 a0002c0012t0020 a0002c0024t0005 a0002c0025t0037 a0002c0039t0033 a0005c0046t0012	a0001c0001t0006g0025 a0001c0011t0004g0064 a0001c0014t0032g0031 others(9): Show a0001c0001t0006g0025 a0001c0011t0004g0064 a0001c0014t0032g0031 a0001c0015t0006g0034 a0001c0023t0003g0071 a0001c0026t0004g0055 a0001c0040t0036g0095 a0002c0012t0020g0074 a0002c0024t0005g0013 a0002c0025t0037g0003 a0002c0039t0033g0030 a0005c0046t0012g0080	12	89	0.1348	22	c.591 others(39): Show c.5917-379_5917-378insCTTTCTTTCTTTCTTTCTTTCT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	38/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237631613	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 NA20300.hp2 HG01243.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0011 a0001c0002 a0001c0011	a0001c0002t0001 a0001c0011t0004 a0001c0002t0001 a0001c0011t0004	a0001c0002t0001g0070 a0001c0011t0004g0064 a0001c0002t0001g0070 a0001c0011t0004g0064	2	7	0.2857	22	c.655 others(38): Show c.6555+83_6555+104dupTTTTTTTTTTTTTTTTTTTTTT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	42/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237641477	C C	CTTTCTTT others(15): Show CTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG03704.hp2 NA19066.hp1 HG03704.hp2 NA19066.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0009 a0001c0001 a0002c0009	a0001c0001t0007 a0002c0009t0004 a0001c0001t0007 a0002c0009t0004	a0001c0001t0007g0082 a0002c0009t0004g0067 a0001c0001t0007g0082 a0002c0009t0004g0067	2	100	0.0200	22	c.722 others(39): Show c.7221+477_7221+498dupTTCTTTCTTTCTTTCTTTCTTT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	47/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR3_chr15_33305967_33871102	33379687	C C	CTCTCTCT others(15): Show CTCTCTCTCTCTATATATATATA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0003 a0003	a0003c0035 a0003c0035	a0003c0035t0004 a0003c0035t0004	a0003c0035t0004g0107 a0003c0035t0004g0107	1	68	0.0147	22	c.51+ others(39): Show c.51+68592_51+68593insCTCTCTCTCTATATATATATAT	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	1/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33379687	C C	CTCTCTCT others(15): Show CTCTCTCTCTCTCTCTATATATA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0048 a0048	a0048c0118 a0048c0118	a0048c0118t0003 a0048c0118t0003	a0048c0118t0003g0048 a0048c0118t0003g0048	1	68	0.0147	22	c.51+ others(39): Show c.51+68592_51+68593insCTCTCTCTCTCTCTATATATAT	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	1/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33379687	C C	CTCTCTCT others(15): Show CTCTCTCTCTCTCTCTCTATATA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0006 a0006	a0006c0062 a0006c0062	a0006c0062t0001 a0006c0062t0001	a0006c0062t0001g0108 a0006c0062t0001g0108	1	68	0.0147	22	c.51+ others(39): Show c.51+68592_51+68593insCTCTCTCTCTCTCTCTATATAT	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	1/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33379687	C C	CTCTCTCT others(15): Show CTCTCTCTCTCTCTCTCTCTCTA	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0007 a0007	a0007c0026 a0007c0026	a0007c0026t0002 a0007c0026t0002	a0007c0026t0002g0109 a0007c0026t0002g0109	1	68	0.0147	22	c.51+ others(39): Show c.51+68592_51+68593insCTCTCTCTCTCTCTCTCTCTAT	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	1/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33432668	T T	TTGTGTGT others(15): Show TTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG03486.hp2 HG03579.hp2 HG01255.hp2 HG03486.hp2 HG03579.hp2	a0007 a0043 a0045 a0007 a0043 a0045	a0007c0073 a0043c0024 a0045c0045 a0007c0073 a0043c0024 a0045c0045	a0007c0073t0001 a0043c0024t0001 a0045c0045t0002 a0007c0073t0001 a0043c0024t0001 a0045c0045t0002	a0007c0073t0001g0138 a0043c0024t0001g0110 a0045c0045t0002g0134 a0007c0073t0001g0138 a0043c0024t0001g0110 a0045c0045t0002g0134	3	33	0.0909	22	c.52- others(39): Show c.52-40743_52-40722dupGTGTGTGTGTGTGTGTGTGTGT	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	1/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33445664	A A	AACACACA others(15): Show AACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0037 a0037	a0037c0039 a0037c0039	a0037c0039t0001 a0037c0039t0001	a0037c0039t0001g0053 a0037c0039t0001g0053	1	20	0.0500	22	c.52- others(39): Show c.52-27726_52-27705dupACACACACACACACACACACAC	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(15): Show TATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0002 a0002	a0002c0049 a0002c0049	a0002c0049t0003 a0002c0049t0003	a0002c0049t0003g0014 a0002c0049t0003g0014	1	129	0.0078	22	c.52- others(37): Show c.52-8929_52-8928insTATATATATATATACACACACA	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(15): Show TATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02922.hp1 HG02647.hp2 HG02922.hp1	a0033 a0037 a0033 a0037	a0033c0066 a0037c0039 a0033c0066 a0037c0039	a0033c0066t0002 a0037c0039t0001 a0033c0066t0002 a0037c0039t0001	a0033c0066t0002g0004 a0037c0039t0001g0053 a0033c0066t0002g0004 a0037c0039t0001g0053	2	130	0.0154	22	c.52- others(37): Show c.52-8929_52-8928insTATATATATATATATATATACA	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(15): Show TATATATATATATATACACATAC	intron_variant intron_variant	MODIFIER	HG03225.hp2 NA19005.hp1 HG03225.hp2 NA19005.hp1	a0001 a0005 a0001 a0005	a0001c0013 a0005c0029 a0001c0013 a0005c0029	a0001c0013t0001 a0005c0029t0001 a0001c0013t0001 a0005c0029t0001	a0001c0013t0001g0026 a0005c0029t0001g0075 a0001c0013t0001g0026 a0005c0029t0001g0075	2	125	0.0160	22	c.52- others(37): Show c.52-8915_52-8914insTATATATATACACATACATATA	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	1/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33664589	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02615.hp2 HG02896.hp2 others(4): Show HG01243.hp2 HG02615.hp2 HG02896.hp2 HG02897.hp2 HG03225.hp2 HG03579.hp2 NA20129.hp1	a0001 a0002 a0005 others(3): Show a0001 a0002 a0005 a0032 a0045 a0051	a0001c0010 a0002c0119 a0005c0029 others(3): Show a0001c0010 a0002c0119 a0005c0029 a0032c0076 a0045c0045 a0051c0033	a0001c0010t0001 a0002c0119t0001 a0005c0029t0001 others(3): Show a0001c0010t0001 a0002c0119t0001 a0005c0029t0001 a0032c0076t0001 a0045c0045t0002 a0051c0033t0003	a0001c0010t0001g0051 a0001c0010t0001g0142 a0002c0119t0001g0090 others(4): Show a0001c0010t0001g0051 a0001c0010t0001g0142 a0002c0119t0001g0090 a0005c0029t0001g0075 a0032c0076t0001g0055 a0045c0045t0002g0134 a0051c0033t0003g0152	7	36	0.1944	22	c.561 others(39): Show c.5619+857_5619+878dupTATATATATATATATATATATA	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(15): Show TATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02809.hp2 HG03486.hp1 HG01884.hp2 HG02809.hp2 HG03486.hp1	a0001 a0006 a0001 a0006	a0001c0046 a0001c0084 a0006c0062 a0001c0046 a0001c0084 a0006c0062	a0001c0046t0011 a0001c0084t0003 a0006c0062t0001 a0001c0046t0011 a0001c0084t0003 a0006c0062t0001	a0001c0046t0011g0066 a0001c0084t0003g0059 a0006c0062t0001g0108 a0001c0046t0011g0066 a0001c0084t0003g0059 a0006c0062t0001g0108	3	121	0.0248	22	c.561 others(39): Show c.5619+878_5619+879insTATATATATATATATATATACA	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(15): Show TTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0007 a0007	a0007c0021 a0007c0021	a0007c0021t0001 a0007c0021t0001	a0007c0021t0001g0153 a0007c0021t0001g0153	1	11	0.0909	22	c.648 others(41): Show c.6484-1805_6484-1784dupTCTCTCTCTCTCTCTCTCTCTC	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(15): Show CACACACACACACACACATATAT	intron_variant intron_variant	MODIFIER	HG02486.hp1 NA19009.hp1 HG02486.hp1 NA19009.hp1	a0001 a0029 a0001 a0029	a0001c0004 a0029c0050 a0001c0004 a0029c0050	a0001c0004t0001 a0029c0050t0003 a0001c0004t0001 a0029c0050t0003	a0001c0004t0001g0036 a0029c0050t0003g0130 a0001c0004t0001g0036 a0029c0050t0003g0130	2	131	0.0153	22	c.691 others(41): Show c.6912+1021_6912+1022insTATATACACACACACACACACA	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	45/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33789622	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0034 a0034	a0034c0104 a0034c0104	a0034c0104t0002 a0034c0104t0002	a0034c0104t0002g0135 a0034c0104t0002g0135	1	141	0.0071	22	c.983 others(41): Show c.9830+1165_9830+1166insATATATATATATATATATATAT	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	67/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33789624	T T	TTTTATAT others(15): Show TTTTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0003 a0003c0012t0003	a0003c0012t0003g0064 a0003c0012t0003g0064	1	61	0.0164	22	c.983 others(41): Show c.9830+1167_9830+1168insTTATATATATATATATATATAT	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(15): Show ATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0010 a0010	a0010c0017 a0010c0017	a0010c0017t0003 a0010c0017t0003	a0010c0017t0003g0017 a0010c0017t0003g0017	1	79	0.0127	22	c.983 others(41): Show c.9830+1201_9830+1202insATATATATATATATATATATTT	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	67/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33794348	A A	ACATATAT others(15): Show ACATATATAACATATATATATGT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0005 a0005	a0005c0030 a0005c0030	a0005c0030t0001 a0005c0030t0001	a0005c0030t0001g0007 a0005c0030t0001g0007	1	74	0.0135	22	c.983 others(41): Show c.9830+5890_9830+5891insCATATATAACATATATATATGT	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	67/103			chr15	TogoVar
S100B_chr21_46593604_46610082	46603392	A A	AGGGGGTG others(15): Show AGGGGGTGGGGGGAGGGGGGGGC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0073 a0001c0002t0002g0073	1	41	0.0244	22	c.-1- others(35): Show c.-1-977_-1-976insGCCCCCCCCTCCCCCCACCCCC	S100B	ENSG00000160307.10	transcript	ENST00000291700.9	protein_coding	1/2			chr21	TogoVar
S100PBP_chr1_32812653_32863875	32824827	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02723.hp2 HG02622.hp2 HG02723.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0003 a0003c0003t0003 a0001c0001t0003 a0003c0003t0003	a0001c0001t0003g0272 a0003c0003t0003g0261 a0001c0001t0003g0272 a0003c0003t0003g0261	2	20	0.1000	22	c.-11 others(39): Show c.-119-467_-119-466insTATATATATATATATATATATA	S100PBP	ENSG00000116497.18	transcript	ENST00000373475.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
S1PR1_chr1_101232019_101246518	101234679	A A	ACCATGGT others(15): Show ACCATGGTGGTCTGACCATGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp1 HG04115.hp1 HG03942.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	454	0.0044	22	c.-25 others(33): Show c.-2584_-2583insCCATGGTGGTCTGACCATGGTG	S1PR1	ENSG00000170989.10	transcript	ENST00000305352.7	protein_coding		2339		chr1	TogoVar
SAAL1_chr11_18075292_18111082	18076631	A A	AAGAAAGA others(15): Show AAGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0001 a0007c0012t0001	a0007c0012t0001g0038 a0007c0012t0001g0038	1	221	0.0045	22	c.37 others(33): Show c.3767_*3768insCTTTCTTTCTTTCTTTCTTTCT	SAAL1	ENSG00000166788.10	transcript	ENST00000524803.6	protein_coding		3660		chr11	TogoVar
SAC3D1_chr11_65036210_65049828	65039029	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG01515.hp1 HG01516.hp1 others(1): Show HG00323.hp1 HG01515.hp1 HG01516.hp1 HG02698.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0004 a0001c0002t0001g0002 a0001c0002t0001g0004	4	175	0.0229	22	c.-22 others(33): Show c.-2264_-2263insTTTTTTTTTTTTTTTTTTTTTT	SAC3D1	ENSG00000168061.17	transcript	ENST00000652489.1	protein_coding		2180		chr11	TogoVar
SACM1L_chr3_45684396_45750409	45686663	A A	ATATATAT others(15): Show ATATATATATATATATATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0160 a0001c0002t0005g0160	1	53	0.0189	22	c.-28 others(33): Show c.-2803_-2802insTATATATATATATATATATATT	SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding		2732		chr3	TogoVar
SACM1L_chr3_45684396_45750409	45686663	A A	ATATATAT others(15): Show ATATATATATATATATATATTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0016 a0001c0002t0002g0016	1	53	0.0189	22	c.-28 others(33): Show c.-2803_-2802insTATATATATATATATATATTTT	SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding		2732		chr3	TogoVar
SACM1L_chr3_45684396_45750409	45686663	A A	ATATATAT others(15): Show ATATATATATATATATATTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG02615.hp2 HG00140.hp1 HG02615.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0127 a0001c0002t0002g0141 a0001c0002t0002g0127 a0001c0002t0002g0141	2	54	0.0370	22	c.-28 others(33): Show c.-2803_-2802insTATATATATATATATATTTTTT	SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding		2732		chr3	TogoVar
SACM1L_chr3_45684396_45750409	45686663	A A	ATATATAT others(15): Show ATATATATATATATATTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0122 a0001c0002t0002g0122	1	53	0.0189	22	c.-28 others(33): Show c.-2803_-2802insTATATATATATATATTTTTTTT	SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding		2732		chr3	TogoVar
SACM1L_chr3_45684396_45750409	45686663	A A	ATATATAT others(15): Show ATATATATATATATTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0040 a0001c0002t0004g0040	1	53	0.0189	22	c.-28 others(33): Show c.-2803_-2802insTATATATATATATTTTTTTTTT	SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding		2732		chr3	TogoVar
SACM1L_chr3_45684396_45750409	45686663	A A	ATATATAT others(15): Show ATATATATATATTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0174 a0001c0002t0004g0174	1	53	0.0189	22	c.-28 others(33): Show c.-2803_-2802insTATATATATATTTTTTTTTTTT	SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding		2732		chr3	TogoVar
SACM1L_chr3_45684396_45750409	45724298	G G	GGTGTGTG others(15): Show GGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0244 a0001c0002t0002g0244	1	28	0.0357	22	c.921 others(37): Show c.921+770_921+791dupGTGTGTGTGTGTGTGTGTGTGT	SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding	11/19		INFO_REALIGN_3_PRIME	chr3	TogoVar
SACM1L_chr3_45684396_45750409	45748591	A A	AATATATA others(15): Show AATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp2 HG01258.hp1 HG02132.hp2 others(5): Show HG01257.hp2 HG01258.hp1 HG02132.hp2 NA18982.hp1 NA18991.hp1 NA19057.hp1 NA19060.hp2 NA19078.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0008 a0002c0001t0001 a0002c0001t0008	a0002c0001t0001g0001 a0002c0001t0001g0186 a0002c0001t0001g0192 others(5): Show a0002c0001t0001g0001 a0002c0001t0001g0186 a0002c0001t0001g0192 a0002c0001t0001g0200 a0002c0001t0001g0214 a0002c0001t0001g0240 a0002c0001t0008g0185 a0002c0001t0008g0202	8	42	0.1905	22	c.49 others(33): Show c.4922_*4923insATATATATATATATATATATAT	SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding		3183		chr3	TogoVar
SACS_chr13_23323830_23438702	23380120	C C	CGTGTGTG others(15): Show CGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0021 a0021	a0021c0031 a0021c0031	a0021c0031t0027 a0021c0031t0027	a0021c0031t0027g0204 a0021c0031t0027g0204	1	375	0.0027	22	c.21- others(37): Show c.21-4852_21-4851insACACACACACACACACACACAC	SACS	ENSG00000151835.17	transcript	ENST00000382292.9	protein_coding	2/9			chr13	TogoVar
SACS_chr13_23323830_23438702	23399019	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02109.hp1 HG02735.hp1 others(3): Show HG02040.hp2 HG02109.hp1 HG02735.hp1 HG03831.hp1 NA18973.hp1 NA19057.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0007	a0001c0006 a0002c0001 a0002c0024 others(2): Show a0001c0006 a0002c0001 a0002c0024 a0005c0030 a0007c0015	a0001c0006t0001 a0002c0001t0001 a0002c0024t0001 others(2): Show a0001c0006t0001 a0002c0001t0001 a0002c0024t0001 a0005c0030t0005 a0007c0015t0001	a0001c0006t0001g0207 a0002c0001t0001g0174 a0002c0024t0001g0195 others(3): Show a0001c0006t0001g0207 a0002c0001t0001g0174 a0002c0024t0001g0195 a0002c0024t0001g0201 a0005c0030t0005g0117 a0007c0015t0001g0112	6	126	0.0476	22	c.20+ others(39): Show c.20+12200_20+12201insTTTTTTTTTTTTTTTTTTTTTT	SACS	ENSG00000151835.17	transcript	ENST00000382292.9	protein_coding	2/9			chr13	TogoVar
SACS_chr13_23323830_23438702	23399037	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0007 a0001c0020t0007	a0001c0020t0007g0184 a0001c0020t0007g0184	1	375	0.0027	22	c.20+ others(39): Show c.20+12182_20+12183insGTTTTTTTTTTTTTTTTTTTTT	SACS	ENSG00000151835.17	transcript	ENST00000382292.9	protein_coding	2/9			chr13	TogoVar
SAMD11_chr1_918923_949574	934179	G G	GGCGGCTC others(15): Show GGCGGCTCCGTTACAGGTGGGCA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0229 a0002c0003t0004g0229	1	431	0.0023	22	c.843 others(39): Show c.843-1592_843-1591insCGGCTCCGTTACAGGTGGGCAG	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD14_chr17_50105040_50135160	50124771	G G	GCACGCGC others(15): Show GCACGCGCGCGCACACACACACA	intron_variant intron_variant	MODIFIER	HG01978.hp2 NA18975.hp1 HG01978.hp2 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0217 a0001c0001t0003g0226 a0001c0001t0003g0217 a0001c0001t0003g0226	2	70	0.0286	22	c.43+ others(35): Show c.43+145_43+146insTGTGTGTGTGTGCGCGCGCGTG	SAMD14	ENSG00000167100.15	transcript	ENST00000330175.9	protein_coding	2/9			chr17	TogoVar
SAMD3_chr6_130139315_130227951	130153647	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01261.hp1 HG01361.hp2 others(25): Show HG01106.hp2 HG01261.hp1 HG01361.hp2 HG02080.hp2 HG02083.hp2 HG02698.hp2 HG02895.hp2 HG02896.hp2 HG03239.hp1 HG03710.hp1 NA18941.hp2 NA18942.hp2 NA18948.hp2 NA18949.hp1 NA18963.hp1 NA18967.hp1 NA18974.hp1 NA18977.hp1 NA18981.hp1 NA18991.hp2 NA19002.hp2 NA19004.hp1 NA19007.hp1 NA19056.hp2 NA19057.hp2 NA19078.hp2 NA19091.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0026 others(25): Show a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0026 a0001c0001t0001g0045 a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0081 a0001c0001t0001g0088 a0001c0001t0001g0093 a0001c0001t0001g0105 a0001c0001t0001g0125 a0001c0001t0001g0145 a0001c0001t0001g0157 a0001c0001t0001g0167 a0001c0001t0001g0171 a0001c0001t0001g0178 a0001c0001t0001g0195 a0001c0001t0001g0202 a0001c0001t0001g0207 a0001c0001t0001g0241 a0001c0001t0001g0247 a0001c0001t0001g0276 a0001c0001t0001g0292 a0001c0001t0001g0299 a0001c0001t0001g0311	28	209	0.1340	22	c.102 others(41): Show c.1023+1177_1023+1178insATATATATATATATATATATAT	SAMD3	ENSG00000164483.17	transcript	ENST00000439090.7	protein_coding	9/11			chr6	TogoVar
SAMD4A_chr14_54562128_54798312	54724012	G G	GGAAGGAA others(15): Show GGAAGGAAGGAAGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA19057.hp1 NA18947.hp2 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0113 a0001c0001t0002g0193 a0001c0001t0001g0113 a0001c0001t0002g0193	2	220	0.0091	22	c.716 others(41): Show c.716-13000_716-12999insAAGGAAGGAAGAAGGAAGGAAG	SAMD4A	ENSG00000020577.14	transcript	ENST00000554335.6	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr14	TogoVar

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