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
ROBO2_chr3_77035099_77654964	77164765	G G	GGTCAGCC others(42): Show GGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01071.hp2 HG01106.hp1 others(84): Show HG00597.hp1 HG01071.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01258.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02717.hp2 HG02738.hp2 HG02809.hp1 HG02896.hp1 HG02896.hp2 HG02970.hp1 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03710.hp2 HG03834.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp2 NA18945.hp1 NA18948.hp1 NA18948.hp2 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18968.hp1 NA18970.hp1 NA18970.hp2 NA18973.hp1 NA18986.hp1 NA18986.hp2 NA19000.hp1 NA19000.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19062.hp1 NA19070.hp1 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0009 others(1): Show a0001 a0002 a0009 a0010	a0001c0001 a0001c0002 a0002c0003 others(3): Show a0001c0001 a0001c0002 a0002c0003 a0002c0009 a0009c0011 a0010c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(37): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0020 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0031 a0001c0001t0034 a0001c0001t0035 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0042 a0001c0001t0046 a0001c0002t0002 a0001c0002t0007 a0001c0002t0012 a0001c0002t0018 a0001c0002t0026 a0002c0003t0001 a0002c0003t0002 a0002c0003t0007 a0002c0009t0002 a0009c0011t0005 a0010c0008t0030	a0001c0001t0001g0017 a0001c0001t0001g0039 a0001c0001t0001g0040 others(84): Show a0001c0001t0001g0017 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0056 a0001c0001t0001g0064 a0001c0001t0001g0069 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0099 a0001c0001t0001g0118 a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0001g0134 a0001c0001t0002g0046 a0001c0001t0002g0065 a0001c0001t0002g0079 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0143 a0001c0001t0003g0014 a0001c0001t0003g0048 a0001c0001t0003g0101 a0001c0001t0003g0132 a0001c0001t0003g0139 a0001c0001t0004g0067 a0001c0001t0004g0070 a0001c0001t0004g0109 a0001c0001t0004g0119 a0001c0001t0004g0133 a0001c0001t0004g0148 a0001c0001t0005g0043 a0001c0001t0005g0044 a0001c0001t0005g0051 a0001c0001t0005g0071 a0001c0001t0005g0095 a0001c0001t0005g0145 a0001c0001t0005g0155 a0001c0001t0005g0159 a0001c0001t0006g0015 a0001c0001t0006g0022 a0001c0001t0006g0023 a0001c0001t0006g0030 a0001c0001t0006g0034 a0001c0001t0006g0152 a0001c0001t0008g0032 a0001c0001t0008g0125 a0001c0001t0008g0135 a0001c0001t0009g0089 a0001c0001t0009g0121 a0001c0001t0010g0037 a0001c0001t0010g0144 a0001c0001t0011g0047 a0001c0001t0011g0053 a0001c0001t0011g0154 a0001c0001t0012g0045 a0001c0001t0013g0098 a0001c0001t0014g0003 a0001c0001t0015g0012 a0001c0001t0015g0013 a0001c0001t0016g0112 a0001c0001t0017g0085 a0001c0001t0020g0009 a0001c0001t0022g0153 a0001c0001t0023g0033 a0001c0001t0024g0001 a0001c0001t0031g0156 a0001c0001t0034g0120 a0001c0001t0035g0041 a0001c0001t0037g0011 a0001c0001t0038g0052 a0001c0001t0039g0063 a0001c0001t0040g0057 a0001c0001t0042g0149 a0001c0001t0046g0004 a0001c0002t0002g0087 a0001c0002t0002g0105 a0001c0002t0007g0113 a0001c0002t0012g0114 a0001c0002t0018g0086 a0001c0002t0026g0081 a0002c0003t0001g0136 a0002c0003t0002g0108 a0002c0003t0007g0116 a0002c0009t0002g0080 a0009c0011t0005g0107 a0010c0008t0030g0100	87	159	0.5472	49	c.388 others(68): Show c.388+66430_388+66431insCCCCCTGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGCGTCAG	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ROBO2_chr3_77035099_77654964	77164765	G G	GGTCAGCC others(42): Show GGTCAGCCCCCTGCCCGGCCAGCTGCCCCGTCCGGGAGGGAGGTGGGGGC	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0042 a0001c0001t0029g0042	1	73	0.0137	49	c.388 others(68): Show c.388+66430_388+66431insCCCCCTGCCCGGCCAGCTGCCCCGTC CGGGAGGGAGGTGGGGGCGTCAG	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ROBO2_chr3_77035099_77654964	77277212	C C	CTTTCTTT others(42): Show CTTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTTGTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0018 a0001c0002t0018	a0001c0002t0018g0086 a0001c0002t0018g0086	1	154	0.0065	49	c.388 others(70): Show c.388+178874_388+178875insTCTTTCTTTCTTTCTTTCTTCTTT CTTTCTTTCTTGTCTTTCTTTCTTT	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ROCK2_chr2_11174759_11349636	11295990	G G	GAGAGAGA others(42): Show GAGAGAGAGAGAGAGAGGAGAGAGAGAGAGAGGGGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0080 a0002c0002t0002g0080	1	217	0.0046	49	c.142 others(66): Show c.142-8255_142-8254insTCTCTCTCTCTCTCTCCCCTCTCTCTCT CTCTCCTCTCTCTCTCTCTCT	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32			chr2	TogoVar
RPA2_chr1_27886524_27919575	27916993	T T	TCCTTCCT others(42): Show TCCTTCCTTCCTCCCTCCCTTCCTTCCTTCCTCCTTCCTCCCTCCCTCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	348	0.0029	49	c.-25 others(60): Show c.-2551_-2550insGGGAGGGAGGGAGGAAGGAGGAAGGAAGGAAGGG AGGGAGGAAGGAAGG	RPA2	ENSG00000117748.10	transcript	ENST00000373912.8	protein_coding		2419		chr1	TogoVar
RPH3AL_chr17_207389_357807	319977	A A	AGGGGGAG others(42): Show AGGGGGAGGGAGACTGAGGGGATGGAGGGGGAGGGAGACTGAGGGGAGCG	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0074 a0001c0001t0035g0074	1	124	0.0081	49	c.222 others(64): Show c.222-429_222-428insCGCTCCCCTCAGTCTCCCTCCCCCTCCATC CCCTCAGTCTCCCTCCCCC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	4/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	320002	A A	AGGGGGAG others(42): Show AGGGGGAGGGAGACTGAGGGGATGGAGGGGGAGGGAGACTGAGGGGAGCG	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0059 a0001c0003t0002g0059	1	130	0.0077	49	c.222 others(64): Show c.222-454_222-453insCGCTCCCCTCAGTCTCCCTCCCCCTCCATC CCCTCAGTCTCCCTCCCCC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	4/9			chr17	TogoVar
RPL10_chrX_154393377_154407332	154396712	A A	ATATATAT others(42): Show ATATATATATATATATATATATATATATATATATATATATATTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0004 a0002c0002t0002g0004	1	155	0.0065	49	c.-17 others(60): Show c.-1706_-1705insTATATATATATATATATATATATATATATATATA TATATATTTTTTTTT	RPL10	ENSG00000147403.18	transcript	ENST00000369817.7	protein_coding		1664		chrX	TogoVar
RPL11_chr1_23686806_23701835	23689071	G G	GCAGCCGC others(42): Show GCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp2 HG02145.hp1 HG02622.hp2 others(4): Show HG01069.hp2 HG02145.hp1 HG02622.hp2 HG02809.hp1 HG02922.hp1 HG03098.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0012	7	372	0.0188	49	c.-27 others(60): Show c.-2753_-2752insCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCCAGC	RPL11	ENSG00000142676.14	transcript	ENST00000643754.2	protein_coding		2734		chr1	TogoVar
RPTOR_chr17_80539838_80971368	80662797	T T	TGGCCTTT others(42): Show TGGCCTTTCATAGTCTTACAAAGGTGGGTTTCAGTCCCTGAACCAGGAGG	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0001 a0001c0022t0001	a0001c0022t0001g0130 a0001c0022t0001g0130	1	194	0.0052	49	c.348 others(68): Show c.348+19013_348+19014insGTTTCAGTCCCTGAACCAGGAGGGGC CTTTCATAGTCTTACAAAGGTGG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80665334	T T	TTTCCTTT others(42): Show TTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0016 a0001c0018t0016	a0001c0018t0016g0120 a0001c0018t0016g0120	1	194	0.0052	49	c.348 others(68): Show c.348+21527_348+21575dupCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80665502	C C	CCTTTCCT others(42): Show CCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0076 a0001c0006t0076	a0001c0006t0076g0183 a0001c0006t0076g0183	1	147	0.0068	49	c.348 others(68): Show c.348+21693_348+21694insTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80665523	C C	CCTTTCCT others(42): Show CCTTTCCTGTCCTTTCCTTTCCTGTCCTTTCCTTTCATGTCCTTTCCTTT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0059 a0001c0059	a0001c0059t0080 a0001c0059t0080	a0001c0059t0080g0005 a0001c0059t0080g0005	1	99	0.0101	49	c.348 others(68): Show c.348+21714_348+21715insTTTCCTGTCCTTTCCTTTCCTGTCCT TTCCTTTCATGTCCTTTCCTTTC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80876347	T T	TCCACCGA others(42): Show TCCACCGAGCCCGTGCCACGCAGGGTGTGTGTGTCGCCTGCCGTGTCTTC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02922.hp2 HG00423.hp2 HG02922.hp2	a0001 a0001	a0001c0017 a0001c0053 a0001c0017 a0001c0053	a0001c0017t0008 a0001c0053t0006 a0001c0017t0008 a0001c0053t0006	a0001c0017t0008g0031 a0001c0053t0006g0122 a0001c0017t0008g0031 a0001c0053t0006g0122	2	169	0.0118	49	c.151 others(68): Show c.1510-3910_1510-3862dupCGTGCCACGCAGGGTGTGTGTGTCGC CTGCCGTGTCTTCCCACCGAGCC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	13/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RRP7A_chr22_42503344_42524796	42509850	G G	GTGTGTGT others(42): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0053 a0004c0005t0053	a0004c0005t0053g0198 a0004c0005t0053g0198	1	129	0.0078	49	c.30 others(60): Show c.3059_*3060insACACACACACACACACACACACACACACACACAC ACACACACACACACA	RRP7A	ENSG00000189306.11	transcript	ENST00000323013.7	protein_coding	7/7	3059		chr22	TogoVar
RSKR_chr17_28602963_28619185	28604080	G G	GGGCTGAC others(42): Show GGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 HG02055.hp2 HG02451.hp1 others(2): Show HG01433.hp1 HG02055.hp2 HG02451.hp1 HG02970.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0001 a0001c0001t0002 a0001c0001t0011	a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0011g0010 a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0011g0010	5	14	0.3571	49	c.63 others(60): Show c.6397_*6398insACCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAG GTGGGGGGGTCAGCC	RSKR	ENSG00000167524.17	transcript	ENST00000301037.11	protein_coding		3882		chr17	TogoVar
RSKR_chr17_28602963_28619185	28604129	G G	GGGCTGAC others(42): Show GGGCTGACCCCTCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18612.hp1 NA18971.hp1 NA18612.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0004 a0001c0001t0004g0004	2	360	0.0056	49	c.63 others(60): Show c.6348_*6349insACCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAG GTGGAGGGGTCAGCC	RSKR	ENSG00000167524.17	transcript	ENST00000301037.11	protein_coding		3833		chr17	TogoVar
RSPRY1_chr16_57181329_57245469	57200661	G G	GCTGACCC others(42): Show GCTGACCCCCCCGCCTCCCTCGCGGAAGGGGCGGCTGGCCAGGCGGGGGA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG03927.hp1 HG02056.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0108 a0001c0001t0002g0249 a0001c0001t0001g0108 a0001c0001t0002g0249	2	11	0.1818	49	c.-15 others(68): Show c.-155-3832_-155-3831insGCCTCCCTCGCGGAAGGGGCGGCTGG CCAGGCGGGGGACTGACCCCCCC	RSPRY1	ENSG00000159579.14	transcript	ENST00000394420.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
RSPRY1_chr16_57181329_57245469	57200661	G G	GGCTGACC others(42): Show GGCTGACCCCCCGCCTCCCTCGCGGAAGGGGCGGCTGGCCAGGCGGGGGA	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0225 a0001c0001t0002g0225	1	10	0.1000	49	c.-15 others(68): Show c.-155-3843_-155-3842insGCTGACCCCCCGCCTCCCTCGCGGAA GGGGCGGCTGGCCAGGCGGGGGA	RSPRY1	ENSG00000159579.14	transcript	ENST00000394420.9	protein_coding	1/14			chr16	TogoVar
RSPRY1_chr16_57181329_57245469	57200665	A A	ACCCCCCG others(42): Show ACCCCCCGCCTCCCTCGCGGAAGGGGCGGCTGGCCAGGCGGGGGACTGAC	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0014 a0001c0001t0004g0014	1	355	0.0028	49	c.-15 others(68): Show c.-155-3833_-155-3832insGCCTCCCTCGCGGAAGGGGCGGCTGG CCAGGCGGGGGACTGACCCCCCC	RSPRY1	ENSG00000159579.14	transcript	ENST00000394420.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
RTEL1_chr20_63653312_63701245	63677697	G G	GCCTGTTG others(42): Show GCCTGTTGGTGGATTTGGCCTGCACGGATTCTGTGTGGCCTCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0002 a0001c0016t0002	a0001c0016t0002g0023 a0001c0016t0002g0023	1	7	0.1429	49	c.920 others(64): Show c.920-201_920-153dupCTGTTGGTGGATTTGGCCTGCACGGATTCT GTGTGGCCTCTTCCTTCCC	RTEL1	ENSG00000258366.12	transcript	ENST00000360203.11	protein_coding	10/34		INFO_REALIGN_3_PRIME	chr20	TogoVar
RTP5_chr2_241864729_241878823	241878107	G G	GCCCCCCC others(42): Show GCCCCCCCACCCCCATCCCTCTCCTCGCTCCCCTCCCTCTCCTGGCCGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG02027.hp2 NA18979.hp2 others(2): Show HG00408.hp1 HG02027.hp2 NA18979.hp2 NA19055.hp2 NA19068.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	5	278	0.0180	49	c.48 others(60): Show c.4833_*4834insCCCCCCCACCCCCATCCCTCTCCTCGCTCCCCTC CCTCTCCTGGCCGCC	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding		4285		chr2	TogoVar
RTP5_chr2_241864729_241878823	241878112	C C	CCCACCCC others(42): Show CCCACCCCCATCCCTCTCCTCGCTCCCCTCCCTCTCCTGGCCGCCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	364	0.0027	49	c.48 others(60): Show c.4838_*4839insCCACCCCCATCCCTCTCCTCGCTCCCCTCCCTCT CCTGGCCGCCCCCCG	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding		4290		chr2	TogoVar
RUBCN_chr3_197663867_197741904	197733122	T T	TTTTTTTT others(42): Show TTTTTTTTTTTTTTTTTTTGTTTTTTATTTTTTTTTTTTTTTTTTTTTTC	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0046 a0001c0001t0034g0046	1	184	0.0054	49	c.65+ others(64): Show c.65+3532_65+3533insGAAAAAAAAAAAAAAAAAAAAAATAAAAAA CAAAAAAAAAAAAAAAAAA	RUBCN	ENSG00000145016.17	transcript	ENST00000296343.10	protein_coding	1/19			chr3	TogoVar
RUNDC3B_chr7_87623398_87837296	87626174	T T	TTGTCATA others(42): Show TTGTCATATATATGTGTCATATATATTGTCATATATATGTGTCATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0084 a0001c0001t0004g0084	1	196	0.0051	49	c.-26 others(60): Show c.-2650_-2649insTGTCATATATATGTGTCATATATATTGTCATATA TATGTGTCATATATA	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		2223		chr7	TogoVar
RUNDC3B_chr7_87623398_87837296	87626246	A A	ATGTCATA others(42): Show ATGTCATATATATGTGTCATATATATTGTCATATATATGTGTCATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0130 a0001c0001t0007g0130	1	58	0.0172	49	c.-25 others(60): Show c.-2578_-2577insTGTCATATATATGTGTCATATATATTGTCATATA TATGTGTCATATATG	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		2151		chr7	TogoVar
RWDD2B_chr21_28999384_29024349	29011606	A A	ACCCAGCC others(42): Show ACCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCG	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG03490.hp2 HG03492.hp2 others(1): Show HG02602.hp1 HG03490.hp2 HG03492.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0026 a0001c0001t0001 a0001c0001t0026	a0001c0001t0001g0030 a0001c0001t0001g0067 a0001c0001t0026g0054 a0001c0001t0001g0030 a0001c0001t0001g0067 a0001c0001t0026g0054	4	362	0.0110	49	c.68- others(64): Show c.68-2986_68-2985insCGGGGGGCTGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCTGGG	RWDD2B	ENSG00000156253.7	transcript	ENST00000493196.2	protein_coding	1/4			chr21	TogoVar
RWDD2B_chr21_28999384_29024349	29011606	A A	ACCCGGCC others(42): Show ACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00323.hp2 others(55): Show HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00438.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp2 HG01074.hp2 HG01106.hp1 HG01123.hp2 HG01168.hp1 HG01175.hp1 HG01243.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01496.hp2 HG01515.hp1 HG01934.hp1 HG02015.hp1 HG02027.hp2 HG02129.hp1 HG02148.hp1 HG02293.hp2 HG02622.hp2 HG02717.hp2 HG02738.hp1 HG03017.hp2 HG03491.hp1 HG03540.hp1 HG03669.hp1 HG03669.hp2 HG03704.hp2 HG04115.hp1 HG04204.hp1 NA18612.hp1 NA18942.hp2 NA18945.hp1 NA18951.hp2 NA18959.hp2 NA18961.hp1 NA18965.hp1 NA18970.hp1 NA18977.hp2 NA18978.hp2 NA18986.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp2 NA19005.hp2 NA19006.hp2 NA19058.hp2 NA19060.hp2 NA19079.hp1 NA19083.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0014 others(2): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0014 a0001c0001t0024 a0001c0001t0025	a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0049 others(29): Show a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0083 a0001c0001t0006g0050 a0001c0001t0006g0051 a0001c0001t0006g0059 a0001c0001t0006g0060 a0001c0001t0006g0061 a0001c0001t0006g0062 a0001c0001t0006g0063 a0001c0001t0006g0064 a0001c0001t0006g0081 a0001c0001t0006g0084 a0001c0001t0014g0069 a0001c0001t0024g0072 a0001c0001t0025g0076	58	416	0.1394	49	c.68- others(64): Show c.68-3034_68-2986dupCGGGGGGCTGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGG	RWDD2B	ENSG00000156253.7	transcript	ENST00000493196.2	protein_coding	1/4			chr21	TogoVar
RWDD2B_chr21_28999384_29024349	29011655	G G	GCCCGGCC others(42): Show GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	432	0.0023	49	c.68- others(64): Show c.68-3035_68-3034insTGGGGGGCTGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGG	RWDD2B	ENSG00000156253.7	transcript	ENST00000493196.2	protein_coding	1/4			chr21	TogoVar
S100A2_chr1_153556108_153570844	153556420	T T	TGGCTAAG others(42): Show TGGCTAAGTAGAGGGAGGAAGGTAGTGAGATATGATGACCCAATATGTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0006 a0002c0002t0002g0006	1	368	0.0027	49	c.50 others(60): Show c.5018_*5019insTGACATATTGGGTCATCATATCTCACTACCTTCC TCCCTCTACTTAGCC	S100A2	ENSG00000196754.13	transcript	ENST00000368708.9	protein_coding		4687		chr1	TogoVar
SACS_chr13_23323830_23438702	23428419	A A	ATTACTCC others(42): Show ATTACTCCCCCCCCCCCCCCACCCCCCGCCCCCCTTCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0127 a0001c0004t0002g0127	1	376	0.0027	49	c.-50 others(68): Show c.-502+5195_-502+5196insGGGGGGGGGGGGGGAAGGGGGGCGGG GGGTGGGGGGGGGGGGGGAGTAA	SACS	ENSG00000151835.17	transcript	ENST00000382292.9	protein_coding	1/9			chr13	TogoVar
SAMD11_chr1_918923_949574	939436	C C	CCCCCTCA others(42): Show CCCCCTCATCACCTCCCCAGCCACGGTGAGGACCCACCCTGGCATGATCT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0007 a0007	a0007c0024 a0007c0024	a0007c0024t0003 a0007c0024t0003	a0007c0024t0003g0205 a0007c0024t0003g0205	1	431	0.0023	49	c.119 others(64): Show c.1195+48_1195+96dupGGTGAGGACCCACCCTGGCATGATCTCCCC TCATCACCTCCCCAGCCAC	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SARDH_chr9_133658560_133743352	133668470	T T	TCCCCTCA others(42): Show TCCCCTCACCCTCTCTCTCCCTCACCCTCCCTCTCCCCTCGCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0002 a0001c0016t0002	a0001c0016t0002g0183 a0001c0016t0002g0183	1	253	0.0040	49	c.249 others(68): Show c.2496-1601_2496-1600insGAGGGAGGGCGAGGGGAGAGGGAGGG TGAGGGAGAGAGAGGGTGAGGGG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SARDH_chr9_133658560_133743352	133668998	C C	CACCCTCC others(42): Show CACCCTCCCTCTCCCCTTACCCTCCCTCTCTCTCTCCTTCCCTCTCCCTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0009 a0009	a0009c0068 a0009c0068	a0009c0068t0001 a0009c0068t0001	a0009c0068t0001g0059 a0009c0068t0001g0059	1	246	0.0041	49	c.249 others(68): Show c.2495+1585_2495+1586insAAGGGAGAGGGAAGGAGAGAGAGAGG GAGGGTAAGGGGAGAGGGAGGGT	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SARDH_chr9_133658560_133743352	133669042	T T	TCCCTCAC others(42): Show TCCCTCACCTTCCCTCTCCCTCACCCTCCATCTCCCTCACCCTCCCTCTC	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0002 a0002	a0002c0053 a0002c0053	a0002c0053t0001 a0002c0053t0001	a0002c0053t0001g0031 a0002c0053t0001g0031	1	244	0.0041	49	c.249 others(68): Show c.2495+1541_2495+1542insGAGAGGGAGGGTGAGGGAGATGGAGG GTGAGGGAGAGGGAAGGTGAGGG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SARDH_chr9_133658560_133743352	133669160	C C	CATCCTCC others(42): Show CATCCTCCCTCTCCCTCACCCTCCCTCTCCCTCTCCTTCCCTCTCCCCTT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0195 a0003c0003t0001g0195	1	245	0.0041	49	c.249 others(68): Show c.2495+1423_2495+1424insAAGGGGAGAGGGAAGGAGAGGGAGAG GGAGGGTGAGGGAGAGGGAGGAT	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SASH1_chr6_148337838_148557044	148387620	C C	CTTCCTTC others(42): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0252 a0001c0001t0032g0252	1	317	0.0032	49	c.157 others(66): Show c.157-2512_157-2511insCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTT	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SBNO2_chr19_1102638_1179268	1165805	C C	CCCAGACC others(42): Show CCCAGACCCCCAAACCCCAGATCCCAGACCCCAGACCCCAGACCCCAGAT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0030 a0001c0030	a0001c0030t0001 a0001c0030t0001	a0001c0030t0001g0015 a0001c0030t0001g0015	1	202	0.0050	49	c.-12 others(68): Show c.-127+8366_-127+8367insATCTGGGGTCTGGGGTCTGGGGTCTG GGATCTGGGGTTTGGGGGTCTGG	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31			chr19	TogoVar
SBSPON_chr8_73059543_73098172	73067607	A A	ATATATAT others(42): Show ATATATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0011 a0003c0009t0011	a0003c0009t0011g0296 a0003c0009t0011g0296	1	258	0.0039	49	c.678 others(64): Show c.678-150_678-149insATATATATATATATATATATATATATATAT ATATATATATATATATATA	SBSPON	ENSG00000164764.11	transcript	ENST00000297354.7	protein_coding	4/4			chr8	TogoVar
SCAMP1_chr5_78355617_78485739	78430146	T T	TTATAAAT others(42): Show TTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0007 a0002c0003t0007	a0002c0003t0007g0169 a0002c0003t0007g0169	1	332	0.0030	49	c.632 others(66): Show c.632+8189_632+8190insAAATACTGTATTTATTTATAAATACTGT ATTTATTTATAAATACTGTAT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78430222	T T	TTATTTAT others(42): Show TTATTTATAAATACTGTATTTATAAATACAGTATTTATTTATAAATACAG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02055.hp2 HG02559.hp1 others(5): Show HG01243.hp1 HG02055.hp2 HG02559.hp1 HG02818.hp2 HG02970.hp1 HG02976.hp2 HG03471.hp2 HG03486.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0007 a0002c0003t0007	a0002c0003t0007g0165 a0002c0003t0007g0166 a0002c0003t0007g0167 others(5): Show a0002c0003t0007g0165 a0002c0003t0007g0166 a0002c0003t0007g0167 a0002c0003t0007g0168 a0002c0003t0007g0170 a0002c0003t0007g0171 a0002c0003t0007g0172 a0002c0003t0007g0173	8	308	0.0260	49	c.632 others(66): Show c.632+8275_632+8276insTGTATTTATAAATACAGTATTTATTTAT AAATACAGTATTTATAAATAC	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78460754	T T	TTCCTTCC others(42): Show TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTGGTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0156 a0001c0001t0005g0156	1	331	0.0030	49	c.852 others(66): Show c.852+1429_852+1430insTGGTTTCTTTTCTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78460758	T T	TTCCTTCC others(42): Show TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTGGTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02630.hp2 HG02970.hp2 HG02572.hp2 HG02630.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0017 a0001c0001t0005 a0001c0001t0017	a0001c0001t0005g0146 a0001c0001t0005g0153 a0001c0001t0017g0157 a0001c0001t0005g0146 a0001c0001t0005g0153 a0001c0001t0017g0157	3	331	0.0091	49	c.852 others(66): Show c.852+1433_852+1434insTGGTTTCTTTTCTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78460762	T T	TTCCTTCC others(42): Show TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTGGTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03195.hp1 HG02258.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0147 a0001c0001t0005g0150 a0001c0001t0005g0147 a0001c0001t0005g0150	2	330	0.0061	49	c.852 others(66): Show c.852+1437_852+1438insTGGTTTCTTTTCTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP5_chr15_74990563_75026495	74990964	T T	TTTTTTTC others(42): Show TTTTTTTCTCTTTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	338	0.0030	49	c.-47 others(60): Show c.-4758_-4757insTTTTTTCTCTTTCTCTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTC	SCAMP5	ENSG00000198794.12	transcript	ENST00000425597.8	protein_coding		4598		chr15	TogoVar
SCAMP5_chr15_74990563_75026495	74991133	T T	TTTCTTTC others(42): Show TTTCTTTCTTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	368	0.0027	49	c.-45 others(60): Show c.-4589_-4588insTTCTTTCTTCTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTC	SCAMP5	ENSG00000198794.12	transcript	ENST00000425597.8	protein_coding		4429		chr15	TogoVar
SCML4_chr6_107697154_107829313	107803392	T T	TCGCCCGG others(42): Show TCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0003 a0003	a0003c0013 a0003c0013	a0003c0013t0004 a0003c0013t0004	a0003c0013t0004g0038 a0003c0013t0004g0038	1	248	0.0040	49	c.-60 others(68): Show c.-60+20685_-60+20733dupGGGGGCTGACCCCCCCACCTCCCTCC CGGATGGGGCGGCTGGCCGGGCG	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCN7A_chr2_166398573_166499249	166414897	T T	TTATATAG others(42): Show TTATATAGGATAATATATAATATATATTATATAGGATAATATATAATATA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG02074.hp2 HG02257.hp2 others(9): Show HG00323.hp1 HG02074.hp2 HG02257.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02818.hp2 NA18522.hp1 NA18906.hp1 NA18985.hp2 NA19068.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0010t0001	a0001c0001t0001g0307 a0001c0001t0003g0045 a0001c0001t0003g0338 others(9): Show a0001c0001t0001g0307 a0001c0001t0003g0045 a0001c0001t0003g0338 a0001c0001t0003g0339 a0001c0001t0003g0345 a0001c0001t0003g0346 a0001c0001t0003g0347 a0001c0001t0008g0365 a0001c0001t0008g0366 a0001c0001t0008g0367 a0001c0001t0008g0368 a0001c0010t0001g0059	12	356	0.0337	49	c.341 others(68): Show c.3415-1777_3415-1776insTATATTATATATTATCCTATATAATA TATATTATATATTATCCTATATA	SCN7A	ENSG00000136546.17	transcript	ENST00000643258.1	protein_coding	21/25			chr2	TogoVar
SCNN1D_chr1_1275436_1297025	1284189	G G	GGTGAGGG others(42): Show GGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGA	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0129 a0001c0012t0001g0129	1	278	0.0036	49	c.464 others(64): Show c.464+108_464+109insGTGGGGGGGTTGGGTGAGGGGGGTGGGGTG GGGGGGTTGAGTGAGGGGG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCYGR1_chr2_227382683_227392949	227389894	T T	TTTTCTTT others(42): Show TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0000 a0001c0003t0001g0000	1	259	0.0039	49	c.-19 others(60): Show c.-1946_-1945insGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAA	SCYGR1	ENSG00000284629.1	transcript	ENST00000641359.1	protein_coding		1946		chr2	TogoVar

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