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
RUFY2_chr10_68338408_68412277	68376489	T T	TATATACA others(11): Show TATATACATATATATATTC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01433.hp1 HG00639.hp2 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0066 a0001c0001t0013g0107 a0001c0001t0013g0066 a0001c0001t0013g0107	2	276	0.0073	18	c.132 others(35): Show c.1325+363_1325+364insGAATATATATATGTATAT	RUFY2	ENSG00000204130.14	transcript	ENST00000602465.6	protein_coding	13/17			chr10	TogoVar
RUFY2_chr10_68338408_68412277	68376489	T T	TATATATA others(11): Show TATATATATATATATATTC	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG03704.hp1 NA18975.hp2 others(1): Show HG01517.hp1 HG03704.hp1 NA18975.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0128 others(1): Show a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0128 a0001c0001t0001g0132	4	276	0.0145	18	c.132 others(35): Show c.1325+363_1325+364insGAATATATATATATATAT	RUFY2	ENSG00000204130.14	transcript	ENST00000602465.6	protein_coding	13/17			chr10	TogoVar
RUFY4_chr2_218064253_218095584	218068055	G G	GCAGACAC others(11): Show GCAGACACCTTATCCAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00323.hp1 others(125): Show HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00558.hp2 HG00597.hp2 HG00639.hp2 HG00673.hp2 HG00735.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01081.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01169.hp2 HG01243.hp2 HG01255.hp2 HG01257.hp1 HG01346.hp1 HG01358.hp1 HG01496.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01993.hp1 HG02004.hp1 HG02027.hp1 HG02040.hp2 HG02056.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02083.hp2 HG02129.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02630.hp1 HG02698.hp1 HG02698.hp2 HG02738.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03239.hp2 HG03471.hp2 HG03490.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18948.hp2 NA18951.hp1 NA18954.hp1 NA18955.hp1 NA18956.hp1 NA18960.hp1 NA18961.hp1 NA18961.hp2 NA18964.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18978.hp2 NA18986.hp2 NA18995.hp2 NA19002.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19056.hp2 NA19062.hp2 NA19063.hp2 NA19068.hp2 NA19077.hp1 NA19087.hp1 NA19089.hp2 NA19090.hp2 NA20752.hp1 NA20905.hp1 NA20905.hp2	a0001 a0002 a0008 others(1): Show a0001 a0002 a0008 a0014	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0012 a0001c0015 a0001c0019 a0001c0025 a0002c0004 a0008c0020 a0014c0021	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0007 a0001c0003t0001 a0001c0012t0001 a0001c0015t0001 a0001c0019t0001 a0001c0025t0001 a0002c0004t0001 a0008c0020t0003 a0014c0021t0003	a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0033 others(68): Show a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0033 a0001c0001t0001g0084 a0001c0001t0001g0091 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0002g0158 a0001c0002t0001g0001 a0001c0002t0001g0007 a0001c0002t0001g0011 a0001c0002t0001g0018 a0001c0002t0001g0019 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0083 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0092 a0001c0002t0001g0094 a0001c0002t0001g0101 a0001c0002t0007g0001 a0001c0003t0001g0007 a0001c0003t0001g0035 a0001c0003t0001g0093 a0001c0012t0001g0001 a0001c0015t0001g0025 a0001c0019t0001g0001 a0001c0025t0001g0087 a0002c0004t0001g0013 a0002c0004t0001g0034 a0002c0004t0001g0095 a0002c0004t0001g0096 a0002c0004t0001g0097 a0002c0004t0001g0098 a0002c0004t0001g0102 a0008c0020t0003g0104 a0014c0021t0003g0103	128	394	0.3249	18	c.-14 others(29): Show c.-1478_-1477insCAGACACCTTATCCAGAA	RUFY4	ENSG00000188282.13	transcript	ENST00000697321.1	protein_coding		1197		chr2	TogoVar
RUNDC3B_chr7_87623398_87837296	87652621	G G	GAGATATA others(11): Show GAGATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0172 a0001c0001t0018g0172	1	202	0.0050	18	c.238 others(35): Show c.238+1685_238+1686insGATATATATATATATATA	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
RUNDC3B_chr7_87623398_87837296	87652621	G G	GATATATA others(11): Show GATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01952.hp2 HG02572.hp1 HG01346.hp1 HG01952.hp2 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0068 a0001c0001t0002 a0001c0001t0011 a0001c0001t0068	a0001c0001t0002g0137 a0001c0001t0011g0198 a0001c0001t0068g0001 a0001c0001t0002g0137 a0001c0001t0011g0198 a0001c0001t0068g0001	3	202	0.0149	18	c.238 others(35): Show c.238+1692_238+1709dupTATATATATATATATATA	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
RUNX1T1_chr8_91949972_92108385	91959453	T T	TGTGTGTG others(11): Show TGTGTGTGTGTATATGTGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0074 a0001c0001t0074	a0001c0001t0074g0023 a0001c0001t0074g0023	1	132	0.0076	18	c.78 others(27): Show c.788_*789insGCACATATACACACACAC	RUNX1T1	ENSG00000079102.18	transcript	ENST00000523629.7	protein_coding	12/12	788		chr8	TogoVar
RUNX1T1_chr8_91949972_92108385	91970043	T T	TGTGTGTG others(11): Show TGTGTGTGTGTGTTGTGTG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02965.hp1 HG03486.hp2 others(1): Show HG02809.hp1 HG02965.hp1 HG03486.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0016 a0001c0001t0043 a0001c0001t0003 a0001c0001t0016 a0001c0001t0043	a0001c0001t0003g0125 a0001c0001t0016g0051 a0001c0001t0016g0098 others(1): Show a0001c0001t0003g0125 a0001c0001t0016g0051 a0001c0001t0016g0098 a0001c0001t0043g0124	4	132	0.0303	18	c.153 others(35): Show c.1539+614_1539+615insCACACAACACACACACAC	RUNX1T1	ENSG00000079102.18	transcript	ENST00000523629.7	protein_coding	11/11			chr8	TogoVar
RUNX1T1_chr8_91949972_92108385	91970043	T T	TGTGTGTG others(11): Show TGTGTGTGTGTTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03041.hp2 HG03579.hp2 others(1): Show HG02922.hp1 HG03041.hp2 HG03579.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0059 a0001c0001t0060 a0001c0001t0003 a0001c0001t0059 a0001c0001t0060	a0001c0001t0003g0128 a0001c0001t0003g0130 a0001c0001t0059g0080 others(1): Show a0001c0001t0003g0128 a0001c0001t0003g0130 a0001c0001t0059g0080 a0001c0001t0060g0053	4	132	0.0303	18	c.153 others(35): Show c.1539+614_1539+615insCACACACAACACACACAC	RUNX1T1	ENSG00000079102.18	transcript	ENST00000523629.7	protein_coding	11/11			chr8	TogoVar
RUNX1T1_chr8_91949972_92108385	92005985	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02922.hp2 HG03209.hp2 others(1): Show HG02896.hp2 HG02922.hp2 HG03209.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0010 a0001c0001t0080 others(1): Show a0001c0001t0009 a0001c0001t0010 a0001c0001t0080 a0001c0001t0087	a0001c0001t0009g0115 a0001c0001t0010g0132 a0001c0001t0080g0059 others(1): Show a0001c0001t0009g0115 a0001c0001t0010g0132 a0001c0001t0080g0059 a0001c0001t0087g0114	4	132	0.0303	18	c.559 others(33): Show c.559-706_559-689dupGTGTGTGTGTGTGTGTGT	RUNX1T1	ENSG00000079102.18	transcript	ENST00000523629.7	protein_coding	5/11			chr8	TogoVar
RUNX1_chr21_34782801_35054302	34909588	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02451.hp2 HG02615.hp2 HG00741.hp2 HG02451.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0102 a0001c0001t0001g0133 a0001c0001t0005g0116 a0001c0001t0001g0102 a0001c0001t0001g0133 a0001c0001t0005g0116	3	170	0.0177	18	c.59- others(35): Show c.59-16643_59-16626dupTTTTTTTTTTTTTTTTTT	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
RUNX1_chr21_34782801_35054302	34930270	G G	GTGTGTGT others(11): Show GTGTGTGTGTGTATATATA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0132 a0001c0001t0024g0132	1	170	0.0059	18	c.59- others(35): Show c.59-37308_59-37307insTATATATACACACACACA	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
RUNX1_chr21_34782801_35054302	34978937	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0160 a0001c0002t0003g0160	1	170	0.0059	18	c.58+ others(35): Show c.58+69887_58+69904dupGTGTGTGTGTGTGTGTGT	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
RUNX1_chr21_34782801_35054302	35022895	G G	GAATAATA others(11): Show GAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00735.hp1 HG00738.hp2 others(21): Show HG00639.hp1 HG00735.hp1 HG00738.hp2 HG01167.hp2 HG01169.hp1 HG01243.hp2 HG01952.hp1 HG02148.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02735.hp2 HG02809.hp1 HG02965.hp1 HG03098.hp1 HG03491.hp2 HG03516.hp2 HG03540.hp1 HG04199.hp1 NA18978.hp1 NA18983.hp1 NA19011.hp2 NA19043.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0015 a0001c0001t0026 a0001c0002t0003 a0001c0002t0007 a0001c0006t0006	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0024 others(21): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0024 a0001c0001t0001g0039 a0001c0001t0001g0043 a0001c0001t0001g0065 a0001c0001t0001g0079 a0001c0001t0001g0084 a0001c0001t0001g0112 a0001c0001t0001g0117 a0001c0001t0001g0163 a0001c0001t0002g0014 a0001c0001t0002g0048 a0001c0001t0002g0056 a0001c0001t0002g0106 a0001c0001t0002g0159 a0001c0001t0004g0010 a0001c0001t0004g0058 a0001c0001t0004g0118 a0001c0001t0015g0158 a0001c0001t0026g0119 a0001c0002t0003g0077 a0001c0002t0007g0151 a0001c0006t0006g0134	24	170	0.1412	18	c.58+ others(35): Show c.58+25929_58+25946dupATTATTATTATTATTATT	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
RUNX1_chr21_34782801_35054302	35047549	A A	ACTCTCTC others(11): Show ACTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG02602.hp2 HG01071.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0086 a0001c0001t0012g0085 a0001c0001t0001g0086 a0001c0001t0012g0085	2	170	0.0118	18	c.58+ others(33): Show c.58+1292_58+1293insAGAGAGAGAGAGAGAGAG	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
RUNX2_chr6_45323330_45556082	45485695	G G	GTATATAT others(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp2 NA19010.hp2 HG01928.hp1 HG01928.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0001 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0052 a0001c0001t0003g0029 a0001c0001t0005g0011 a0001c0001t0001g0052 a0001c0001t0003g0029 a0001c0001t0005g0011	3	178	0.0169	18	c.686 others(35): Show c.686-6245_686-6244insATATATATATATATATAT	RUNX2	ENSG00000124813.23	transcript	ENST00000647337.2	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
RUNX2_chr6_45323330_45556082	45485697	G G	GTGTATAT others(11): Show GTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0036 a0001c0001t0007g0036	1	178	0.0056	18	c.686 others(35): Show c.686-6243_686-6242insGTATATATATATATATAT	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(11): Show GTGTGTATATATATATATA	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0128 a0001c0001t0008g0128	1	178	0.0056	18	c.686 others(35): Show c.686-6243_686-6242insGTGTATATATATATATAT	RUNX2	ENSG00000124813.23	transcript	ENST00000647337.2	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
RUNX2_chr6_45323330_45556082	45485716	T T	TATATATA others(11): Show TATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0043 a0001c0002t0015g0043	1	178	0.0056	18	c.686 others(35): Show c.686-6224_686-6223insTATATATATATATATACA	RUNX2	ENSG00000124813.23	transcript	ENST00000647337.2	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
RUSC1_chr1_155315894_155336114	155332460	G G	GTATATAT others(11): Show GTATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	318	0.0031	18	c.18 others(29): Show c.1889_*1890insTATATATATATATATATA	RUSC1	ENSG00000160753.17	transcript	ENST00000368352.10	protein_coding		1347		chr1	TogoVar
RUSC2_chr9_35485111_35566895	35488851	C C	CATCTGCT others(11): Show CATCTGCTGGGCAGAAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0049 a0001c0001t0002g0049	1	322	0.0031	18	c.-14 others(29): Show c.-1414_-1413insATCTGCTGGGCAGAAAAG	RUSC2	ENSG00000198853.12	transcript	ENST00000361226.8	protein_coding		1259		chr9	TogoVar
RUSC2_chr9_35485111_35566895	35513903	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03654.hp1 NA18981.hp2 HG03654.hp1 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0281 a0001c0002t0003g0031 a0001c0001t0001g0281 a0001c0002t0003g0031	2	322	0.0062	18	c.-93 others(37): Show c.-93+23750_-93+23767dupATATATATATATATATAT	RUSC2	ENSG00000198853.12	transcript	ENST00000361226.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr9	TogoVar
RUVBL2_chr19_48988887_49020970	49012843	C C	CCACACAC others(11): Show CCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03041.hp1 HG02970.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0066 a0001c0004t0001g0201 a0001c0001t0001g0066 a0001c0004t0001g0201	2	412	0.0049	18	c.100 others(37): Show c.1001+1557_1001+1574dupACACACACACACACACAC	RUVBL2	ENSG00000183207.15	transcript	ENST00000595090.6	protein_coding	11/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
RWDD2B_chr21_28999384_29024349	29003241	C C	CAAACCCT others(11): Show CAAACCCTAAACAAACCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0192 a0001c0001t0003g0192	1	438	0.0023	18	c.31 others(29): Show c.3175_*3176insTTGGTTTGTTTAGGGTTT	RWDD2B	ENSG00000156253.7	transcript	ENST00000493196.2	protein_coding		1142		chr21	TogoVar
RWDD4_chr4_183634635_183664185	183638494	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 NA18522.hp1 HG02615.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0005t0002 a0001c0001t0002 a0001c0005t0002	a0001c0001t0002g0399 a0001c0005t0002g0066 a0001c0001t0002g0399 a0001c0005t0002g0066	2	480	0.0042	18	c.29 others(29): Show c.2941_*2942insTTTTTTTTTTTTTTTTTT	RWDD4	ENSG00000182552.15	transcript	ENST00000326397.10	protein_coding		1140		chr4	TogoVar
RWDD4_chr4_183634635_183664185	183643415	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02683.hp2 NA18946.hp1 NA19082.hp1 HG02683.hp2 NA18946.hp1 NA19082.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0004 a0001c0001t0001 a0002c0002t0001 a0002c0002t0004	a0001c0001t0001g0269 a0002c0002t0001g0328 a0002c0002t0004g0138 a0001c0001t0001g0269 a0002c0002t0001g0328 a0002c0002t0004g0138	3	480	0.0063	18	c.535 others(35): Show c.535-1965_535-1948dupTTTTTTTTTTTTTTTTTT	RWDD4	ENSG00000182552.15	transcript	ENST00000326397.10	protein_coding	7/7			chr4	TogoVar
RXFP1_chr4_158516882_158658372	158527564	A A	AAAAAATA others(11): Show AAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03139.hp2 NA20129.hp2 HG03139.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0206 a0001c0001t0004g0207 a0001c0001t0004g0206 a0001c0001t0004g0207	2	210	0.0095	18	c.49+ others(33): Show c.49+5540_49+5541insAAAATATATATATATATA	RXFP1	ENSG00000171509.16	transcript	ENST00000307765.10	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RXFP1_chr4_158516882_158658372	158527564	A A	AAAATATA others(11): Show AAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG03239.hp1 HG03704.hp2 HG02129.hp1 HG03239.hp1 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169	3	210	0.0143	18	c.49+ others(33): Show c.49+5540_49+5541insAATATATATATATATATA	RXFP1	ENSG00000171509.16	transcript	ENST00000307765.10	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RXFP1_chr4_158516882_158658372	158541350	G G	GCACACAC others(11): Show GCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02818.hp1 HG02970.hp2 others(2): Show HG01891.hp1 HG02818.hp1 HG02970.hp2 HG03471.hp1 NA19030.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0005 a0001c0001 a0006c0005	a0001c0001t0001 a0001c0001t0002 a0006c0005t0002 a0001c0001t0001 a0001c0001t0002 a0006c0005t0002	a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0001t0002g0113 others(2): Show a0001c0001t0001g0030 a0001c0001t0001g0162 a0001c0001t0002g0113 a0001c0001t0002g0114 a0006c0005t0002g0209	5	210	0.0238	18	c.49+ others(35): Show c.49+19340_49+19357dupCACACACACACACACACA	RXFP1	ENSG00000171509.16	transcript	ENST00000307765.10	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RXFP1_chr4_158516882_158658372	158542079	C C	CCATATAT others(11): Show CCATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG03130.hp1 HG03209.hp1 HG01433.hp1 HG03130.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0010 a0001c0001t0001g0203 a0001c0001t0001g0204	3	210	0.0143	18	c.49+ others(35): Show c.49+20054_49+20055insCATATATATATATATATA	RXFP1	ENSG00000171509.16	transcript	ENST00000307765.10	protein_coding	1/17			chr4	TogoVar
RXFP1_chr4_158516882_158658372	158542109	A A	ATATATAT others(11): Show ATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA19004.hp2 NA18951.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0052 a0001c0001t0001g0047 a0001c0001t0001g0052	2	210	0.0095	18	c.49+ others(35): Show c.49+20085_49+20086insATATATATATATATTTTT	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(11): Show ATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01081.hp1 HG01261.hp2 others(3): Show HG00438.hp1 HG01081.hp1 HG01261.hp2 HG01975.hp2 HG02486.hp1 HG02630.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0001 a0004c0006t0001 a0001c0001t0001 a0004c0006t0001	a0001c0001t0001g0053 a0001c0001t0001g0067 a0001c0001t0001g0124 others(3): Show a0001c0001t0001g0053 a0001c0001t0001g0067 a0001c0001t0001g0124 a0001c0001t0001g0135 a0001c0001t0001g0152 a0004c0006t0001g0074	6	210	0.0286	18	c.49+ others(35): Show c.49+20085_49+20086insATATATATATATTTTTTT	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(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG04115.hp1 HG02486.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0152 a0001c0001t0001g0085 a0001c0001t0001g0152	2	210	0.0095	18	c.756 others(35): Show c.756-3311_756-3294dupAAAAAAAAAAAAAAAAAA	RXFP1	ENSG00000171509.16	transcript	ENST00000307765.10	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RXFP2_chr13_31734526_31808389	31805510	G G	GGTTTTTG others(11): Show GGTTTTTGTTTTTGTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG02723.hp2 HG04184.hp1 others(1): Show HG02630.hp1 HG02723.hp2 HG04184.hp1 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0019 a0001c0001t0001g0237 a0001c0001t0001g0358 others(1): Show a0001c0001t0001g0019 a0001c0001t0001g0237 a0001c0001t0001g0358 a0001c0004t0001g0132	4	386	0.0104	18	c.31 others(29): Show c.3105_*3106insGTTTTTGTTTTTGTTTTT	RXFP2	ENSG00000133105.8	transcript	ENST00000298386.7	protein_coding		2122		chr13	TogoVar
RXRA_chr9_134321455_134445585	134369006	G G	GTGTGTGT others(11): Show GTGTGTGTGTGGGGGGTTA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0087 a0001c0001t0008g0087	1	232	0.0043	18	c.29- others(35): Show c.29-32618_29-32617insTGGGGGGTTATGTGTGTG	RXRA	ENSG00000186350.12	transcript	ENST00000481739.2	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
RXRG_chr1_165395922_165450126	165434272	A A	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01255.hp1 HG01975.hp2 others(3): Show HG01168.hp1 HG01255.hp1 HG01975.hp2 HG01978.hp1 HG02273.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0006 a0001c0002t0002g0061 a0001c0002t0002g0107 a0001c0002t0002g0006 a0001c0002t0002g0061 a0001c0002t0002g0107	6	412	0.0146	18	c.50- others(33): Show c.50-5307_50-5306insCACACACACACACACACA	RXRG	ENSG00000143171.13	transcript	ENST00000359842.10	protein_coding	1/9			chr1	TogoVar
RXRG_chr1_165395922_165450126	165434280	A A	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02109.hp1 HG02630.hp2 HG01346.hp2 HG02109.hp1 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0069 a0001c0003t0001g0051 a0001c0001t0001g0069 a0001c0003t0001g0051	3	412	0.0073	18	c.50- others(33): Show c.50-5332_50-5315dupCACACACACACACACACA	RXRG	ENSG00000143171.13	transcript	ENST00000359842.10	protein_coding	1/9			chr1	TogoVar
RYK_chr3_134152133_134255859	134204591	C C	CCACAGCC others(11): Show CCACAGCCACACACACACA	intron_variant intron_variant	MODIFIER	HG01433.hp1 NA19055.hp1 NA19062.hp1 others(1): Show HG01433.hp1 NA19055.hp1 NA19062.hp1 NA19086.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0243 a0002c0002t0001g0251 a0002c0002t0001g0253 others(1): Show a0002c0002t0001g0243 a0002c0002t0001g0251 a0002c0002t0001g0253 a0002c0002t0001g0259	4	376	0.0106	18	c.644 others(35): Show c.644-1718_644-1717insTGTGTGTGTGTGGCTGTG	RYK	ENSG00000163785.14	transcript	ENST00000623711.4	protein_coding	5/14			chr3	TogoVar
RYK_chr3_134152133_134255859	134249917	G G	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0194 a0001c0001t0004g0194	1	376	0.0027	18	c.232 others(33): Show c.232+488_232+505dupAAAAAAAAAAAAAAAAAA	RYK	ENSG00000163785.14	transcript	ENST00000623711.4	protein_coding	1/14			chr3	TogoVar
RYR1_chr19_38428691_38592564	38502751	T T	TGGGGCAG others(11): Show TGGGGCAGGGGCAGGGGCA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01099.hp1 HG01123.hp2 others(4): Show HG00642.hp1 HG01099.hp1 HG01123.hp2 HG02698.hp2 HG03516.hp1 NA19240.hp2 NA20905.hp1	a0001 a0003 a0010 others(1): Show a0001 a0003 a0010 a0016	a0001c0001 a0001c0044 a0001c0098 others(3): Show a0001c0001 a0001c0044 a0001c0098 a0003c0064 a0010c0087 a0016c0046	a0001c0001t0001 a0001c0044t0001 a0001c0098t0001 others(3): Show a0001c0001t0001 a0001c0044t0001 a0001c0098t0001 a0003c0064t0001 a0010c0087t0001 a0016c0046t0001	a0001c0001t0001g0028 a0001c0001t0001g0043 a0001c0044t0001g0048 others(4): Show a0001c0001t0001g0028 a0001c0001t0001g0043 a0001c0044t0001g0048 a0001c0098t0001g0071 a0003c0064t0001g0181 a0010c0087t0001g0023 a0016c0046t0001g0127	7	218	0.0321	18	c.783 others(33): Show c.7835+65_7836-71dupCAGGGGCAGGGGCAGGGG	RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding	48/105		INFO_REALIGN_3_PRIME	chr19	TogoVar
RYR1_chr19_38428691_38592564	38502798	C C	CAGGGGCA others(11): Show CAGGGGCAGGGGGAGGGGG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02109.hp1 HG03516.hp2 HG01891.hp2 HG02109.hp1 HG03516.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0004 a0001c0014t0001g0024 a0001c0014t0001g0025 a0001c0014t0001g0004 a0001c0014t0001g0024 a0001c0014t0001g0025	3	218	0.0138	18	c.783 others(33): Show c.7836-67_7836-66insGGGAGGGGCAGGGGGAGG	RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding	48/105		INFO_REALIGN_3_PRIME	chr19	TogoVar
RYR1_chr19_38428691_38592564	38502802	G G	GGCAGGGG others(11): Show GGCAGGGGCAGGGGGAGGA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0075 a0001c0075	a0001c0075t0001 a0001c0075t0001	a0001c0075t0001g0165 a0001c0075t0001g0165	1	218	0.0046	18	c.783 others(33): Show c.7836-71_7836-70insCAGGGGGAGGAGCAGGGG	RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding	48/105		INFO_REALIGN_3_PRIME	chr19	TogoVar
RYR1_chr19_38428691_38592564	38502804	C C	CAGGGGCA others(11): Show CAGGGGCAGGGGGAGGGGG	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0002 a0001c0019t0002	a0001c0019t0002g0218 a0001c0019t0002g0218	1	218	0.0046	18	c.783 others(33): Show c.7836-71_7836-70insCAGGGGGAGGGGGAGGGG	RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding	48/105		INFO_REALIGN_3_PRIME	chr19	TogoVar
RYR1_chr19_38428691_38592564	38520693	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0002 a0002	a0002c0025 a0002c0025	a0002c0025t0001 a0002c0025t0001	a0002c0025t0001g0170 a0002c0025t0001g0170	1	218	0.0046	18	c.102 others(39): Show c.10259+1248_10259+1265dupAAAAAAAAAAAAAAAAAA	RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding	67/105		INFO_REALIGN_3_PRIME	chr19	TogoVar
RYR2_chr1_237037184_237838988	237082524	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01928.hp2 NA19066.hp1 HG01928.hp2 NA19066.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0009 a0001c0001 a0002c0009	a0001c0001t0003 a0002c0009t0004 a0001c0001t0003 a0002c0009t0004	a0001c0001t0003g0100 a0002c0009t0004g0067 a0001c0001t0003g0100 a0002c0009t0004g0067	2	100	0.0200	18	c.48+ others(35): Show c.48+39971_48+39988dupTATATATATATATATATA	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	1/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237098387	A A	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0014 a0001c0022t0014	a0001c0022t0014g0066 a0001c0022t0014g0066	1	100	0.0100	18	c.48+ others(35): Show c.48+55837_48+55854dupTGTGTGTGTGTGTGTGTG	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	1/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237180624	G G	GTATATAT others(11): Show GTATATATGTATATGTGTA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00609.hp1 HG00738.hp1 others(21): Show HG00408.hp2 HG00609.hp1 HG00738.hp1 HG00741.hp2 HG01099.hp1 HG01109.hp2 HG01168.hp2 HG01243.hp1 HG01496.hp1 HG02055.hp1 HG02486.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG03017.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp2 HG03831.hp1 NA18522.hp2 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(17): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0008 a0001c0010 a0001c0016 a0001c0022 a0001c0028 a0001c0030 a0001c0037 a0001c0041 a0001c0048 a0002c0024 a0002c0031 a0002c0035 a0002c0038 a0002c0039 a0003c0021	a0001c0001t0001 a0001c0002t0002 a0001c0002t0003 others(21): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0009 a0001c0002t0026 a0001c0002t0031 a0001c0003t0004 a0001c0004t0004 a0001c0005t0011 a0001c0008t0027 a0001c0010t0029 a0001c0016t0033 a0001c0022t0014 a0001c0028t0007 a0001c0030t0005 a0001c0037t0010 a0001c0041t0006 a0001c0048t0001 a0002c0024t0005 a0002c0031t0025 a0002c0035t0021 a0002c0038t0043 a0002c0039t0036 a0003c0021t0001	a0001c0001t0001g0099 a0001c0002t0002g0022 a0001c0002t0003g0052 others(21): Show a0001c0001t0001g0099 a0001c0002t0002g0022 a0001c0002t0003g0052 a0001c0002t0009g0021 a0001c0002t0026g0059 a0001c0002t0031g0033 a0001c0003t0004g0016 a0001c0004t0004g0045 a0001c0005t0011g0061 a0001c0008t0027g0081 a0001c0010t0029g0051 a0001c0016t0033g0024 a0001c0022t0014g0066 a0001c0028t0007g0062 a0001c0030t0005g0053 a0001c0037t0010g0037 a0001c0041t0006g0027 a0001c0048t0001g0007 a0002c0024t0005g0013 a0002c0031t0025g0056 a0002c0035t0021g0010 a0002c0038t0043g0096 a0002c0039t0036g0030 a0003c0021t0001g0019	24	100	0.2400	18	c.49- others(35): Show c.49-89868_49-89867insATGTATATGTGTATATAT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	1/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237208954	A A	ATACATAT others(11): Show ATACATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0034 a0001c0005t0034	a0001c0005t0034g0028 a0001c0005t0034g0028	1	100	0.0100	18	c.49- others(35): Show c.49-61541_49-61540insCATATATATATATATGTA	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	1/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237208958	A A	ACATATAT others(11): Show ACATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0026 a0001c0001t0038g0026	1	100	0.0100	18	c.49- others(35): Show c.49-61539_49-61538insCATATATATATATATATG	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	1/104			chr1	TogoVar
RYR2_chr1_237037184_237838988	237209497	A A	ATATGTGT others(11): Show ATATGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0034 a0001c0005t0034	a0001c0005t0034g0028 a0001c0005t0034g0028	1	100	0.0100	18	c.49- others(35): Show c.49-60999_49-60998insATGTGTGTGTGTGTGTGT	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(11): Show ATGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02572.hp2 HG03704.hp1 HG01081.hp1 HG02572.hp2 HG03704.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0001c0003 a0003c0006 a0001c0002 a0001c0003 a0003c0006	a0001c0002t0031 a0001c0003t0003 a0003c0006t0001 a0001c0002t0031 a0001c0003t0003 a0003c0006t0001	a0001c0002t0031g0033 a0001c0003t0003g0046 a0003c0006t0001g0083 a0001c0002t0031g0033 a0001c0003t0003g0046 a0003c0006t0001g0083	3	100	0.0300	18	c.49- others(35): Show c.49-60983_49-60982insGTGTGTGTGTGTGTGTGT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	1/104		INFO_REALIGN_3_PRIME	chr1	TogoVar

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