Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
RIMBP2_chr12_130391133_130721299	130641292	C C	CATGGTGA others(40): Show CATGGTGACTGCCGGACACTCAGCCCAGCATCACGGGCTGGATTTAGG	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01891.hp2 HG02486.hp1 others(7): Show HG01346.hp1 HG01891.hp2 HG02486.hp1 HG02559.hp2 HG02886.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03540.hp2 NA18986.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0016	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0002c0009 a0004c0041 a0016c0031	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(5): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0004t0002 a0001c0007t0001 a0002c0009t0001 a0004c0041t0003 a0016c0031t0002	a0001c0001t0001g0119 a0001c0002t0001g0054 a0001c0002t0001g0095 others(7): Show a0001c0001t0001g0119 a0001c0002t0001g0054 a0001c0002t0001g0095 a0001c0003t0001g0058 a0001c0003t0001g0150 a0001c0004t0002g0003 a0001c0007t0001g0149 a0002c0009t0001g0174 a0004c0041t0003g0068 a0016c0031t0002g0097	10	180	0.0556	47	c.-35 others(68): Show c.-351-12837_-351-12836insCCTAAATCCAGCCCGTGATGCTGG GCTGAGTGTCCGGCAGTCACCAT	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130641292	C C	CATGGTGA others(40): Show CATGGTGACTGCCGGACACTCAGCCCGGCATCACGGGCTGGATTTAGG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01109.hp2 others(17): Show HG01069.hp2 HG01071.hp1 HG01109.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01255.hp1 HG01361.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01884.hp2 HG01978.hp1 HG02083.hp1 HG02258.hp2 HG03471.hp1 HG03471.hp2 HG04228.hp2 HG06807.hp2 NA19240.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0007	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0008 a0001c0028 a0002c0009 a0004c0039 a0005c0013 a0007c0017	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(9): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0005t0001 a0001c0005t0009 a0001c0006t0001 a0001c0008t0001 a0001c0028t0001 a0002c0009t0001 a0004c0039t0001 a0005c0013t0003 a0007c0017t0001	a0001c0001t0001g0022 a0001c0001t0001g0158 a0001c0002t0001g0021 others(17): Show a0001c0001t0001g0022 a0001c0001t0001g0158 a0001c0002t0001g0021 a0001c0002t0001g0074 a0001c0002t0001g0107 a0001c0002t0001g0110 a0001c0003t0001g0148 a0001c0005t0001g0032 a0001c0005t0001g0085 a0001c0005t0001g0165 a0001c0005t0009g0157 a0001c0006t0001g0033 a0001c0006t0001g0042 a0001c0008t0001g0176 a0001c0028t0001g0114 a0002c0009t0001g0100 a0004c0039t0001g0132 a0005c0013t0003g0141 a0007c0017t0001g0055 a0007c0017t0001g0056	20	180	0.1111	47	c.-35 others(68): Show c.-351-12837_-351-12836insCCTAAATCCAGCCCGTGATGCCGG GCTGAGTGTCCGGCAGTCACCAT	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130641292	C C	CATGGTGA others(40): Show CATGGTGACTGCCGGACACTCGGCCCGGCATCACGGGCTGGATTTAGG	intron_variant intron_variant	MODIFIER	HG02622.hp2 NA21309.hp1 HG02622.hp2 NA21309.hp1	a0001 a0005 a0001 a0005	a0001c0006 a0005c0013 a0001c0006 a0005c0013	a0001c0006t0001 a0005c0013t0003 a0001c0006t0001 a0005c0013t0003	a0001c0006t0001g0061 a0005c0013t0003g0175 a0001c0006t0001g0061 a0005c0013t0003g0175	2	180	0.0111	47	c.-35 others(68): Show c.-351-12883_-351-12837dupCCTAAATCCAGCCCGTGATGCCGG GCCGAGTGTCCGGCAGTCACCAT	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130641292	C C	CATGGTGA others(40): Show CATGGTGACTGCCGGACACTCGGCCCGGCATGACGGGCTGGATTTAGG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02886.hp1 HG02818.hp2 HG02886.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0011c0050 a0001c0001 a0011c0050	a0001c0001t0001 a0011c0050t0001 a0001c0001t0001 a0011c0050t0001	a0001c0001t0001g0146 a0011c0050t0001g0104 a0001c0001t0001g0146 a0011c0050t0001g0104	2	180	0.0111	47	c.-35 others(68): Show c.-351-12837_-351-12836insCCTAAATCCAGCCCGTCATGCCGG GCCGAGTGTCCGGCAGTCACCAT	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130641321	A A	ATCACGGG others(40): Show ATCACGGGCTGGATTTAGGATGGTGACTGCCGGACACTCGGCCCGGCT	intron_variant intron_variant	MODIFIER	HG02258.hp2 NA19240.hp1 HG02258.hp2 NA19240.hp1	a0001 a0004 a0001 a0004	a0001c0005 a0004c0039 a0001c0005 a0004c0039	a0001c0005t0001 a0004c0039t0001 a0001c0005t0001 a0004c0039t0001	a0001c0005t0001g0165 a0004c0039t0001g0132 a0001c0005t0001g0165 a0004c0039t0001g0132	2	180	0.0111	47	c.-35 others(68): Show c.-351-12912_-351-12866dupAGCCGGGCCGAGTGTCCGGCAGTC ACCATCCTAAATCCAGCCCGTGA	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130641415	A A	ATCACGGG others(40): Show ATCACGGGCTGGATTTAGGATGGTGACTGCCGGACACTCGGCCCGGCT	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG03139.hp1 HG03195.hp1 others(1): Show HG02683.hp2 HG03139.hp1 HG03195.hp1 HG03834.hp1	a0001 a0004 a0013 a0001 a0004 a0013	a0001c0002 a0001c0006 a0004c0040 others(1): Show a0001c0002 a0001c0006 a0004c0040 a0013c0046	a0001c0002t0002 a0001c0006t0001 a0004c0040t0001 others(1): Show a0001c0002t0002 a0001c0006t0001 a0004c0040t0001 a0013c0046t0004	a0001c0002t0002g0017 a0001c0006t0001g0009 a0004c0040t0001g0171 others(1): Show a0001c0002t0002g0017 a0001c0006t0001g0009 a0004c0040t0001g0171 a0013c0046t0004g0167	4	180	0.0222	47	c.-35 others(68): Show c.-351-12960_-351-12959insAGCCGGGCCGAGTGTCCGGCAGTC ACCATCCTAAATCCAGCCCGTGA	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130641462	A A	ATCACGGG others(40): Show ATCACGGGCTGGATTTAGGATGGTGACTGCCGGACACTCGGCCCGGCT	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0014 a0014	a0014c0045 a0014c0045	a0014c0045t0001 a0014c0045t0001	a0014c0045t0001g0035 a0014c0045t0001g0035	1	180	0.0056	47	c.-35 others(68): Show c.-351-13007_-351-13006insAGCCGGGCCGAGTGTCCGGCAGTC ACCATCCTAAATCCAGCCCGTGA	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130641509	A A	ATCACGGG others(40): Show ATCACGGGCTGGATTTAGGATGGTGACTGCCGGACACTCGGCCCGGCT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG02451.hp2 NA19084.hp2 others(2): Show HG01256.hp1 HG02451.hp2 NA19084.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0008 others(2): Show a0001c0001 a0001c0006 a0001c0008 a0001c0019 a0001c0021	a0001c0001t0005 a0001c0006t0001 a0001c0008t0001 others(2): Show a0001c0001t0005 a0001c0006t0001 a0001c0008t0001 a0001c0019t0001 a0001c0021t0001	a0001c0001t0005g0006 a0001c0006t0001g0061 a0001c0008t0001g0050 others(2): Show a0001c0001t0005g0006 a0001c0006t0001g0061 a0001c0008t0001g0050 a0001c0019t0001g0023 a0001c0021t0001g0014	5	180	0.0278	47	c.-35 others(68): Show c.-351-13054_-351-13053insAGCCGGGCCGAGTGTCCGGCAGTC ACCATCCTAAATCCAGCCCGTGA	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RIMS2_chr8_103495610_104259430	103587468	G G	GAAAGAAA others(40): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0121 a0001c0001t0007g0121	1	172	0.0058	47	c.177 others(66): Show c.177-64734_177-64733insGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAAAA	RIMS2	ENSG00000176406.25	transcript	ENST00000696799.1	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr8	TogoVar
RNF130_chr5_179950067_180076759	180015583	G G	GGGAAAGG others(40): Show GGGAAAGGAGTAGGGAAAGGAGTAGGGAAAGGAGTAGGGAAAGGAGTA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02717.hp1 HG02723.hp1 others(9): Show HG02451.hp2 HG02717.hp1 HG02723.hp1 HG02818.hp2 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG03098.hp2 HG03225.hp1 HG03540.hp1 HG06807.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0210 a0001c0001t0001g0211 others(9): Show a0001c0001t0001g0203 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233	12	340	0.0353	47	c.443 others(64): Show c.443-2319_443-2273dupTACTCCTTTCCCTACTCCTTTCCCTACT CCTTTCCCTACTCCTTTCC	RNF130	ENSG00000113269.14	transcript	ENST00000521389.6	protein_coding	2/8			chr5	TogoVar
RNF141_chr11_10506673_10546187	10539699	T T	TATATATA others(40): Show TATATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01192.hp2 NA18984.hp1 NA19091.hp2 HG01192.hp2 NA18984.hp1 NA19091.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0275 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0275	3	374	0.0080	47	c.-48 others(64): Show c.-48+1422_-48+1423insTATATATATATATATATATATATATATA TATATATATATATATATAT	RNF141	ENSG00000110315.7	transcript	ENST00000265981.7	protein_coding	1/5			chr11	TogoVar
RNF212_chr4_1066478_1118564	1118295	A A	AAAGAGAG others(40): Show AAAGAGAGAGATTCTCTCTTTTCCTCCTCCTCCGTTGTTGTTGTTGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0006 a0002c0003t0001g0006	1	406	0.0025	47	c.-48 others(58): Show c.-4832_-4831insCTCAACAACAACAACGGAGGAGGAGGAAAAGAGA GAATCTCTCTCTT	RNF212	ENSG00000178222.14	transcript	ENST00000433731.7	protein_coding		4732		chr4	TogoVar
RNF213_chr17_80255852_80403794	80355673	G G	GAGGAAGA others(40): Show GAGGAAGAAGCGACGAAGAAGTGGGGTGACCGGGAATGGGGGCTCACA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0042 a0042	a0042c0103 a0042c0103	a0042c0103t0035 a0042c0103t0035	a0042c0103t0035g0018 a0042c0103t0035g0018	1	292	0.0034	47	c.108 others(68): Show c.10862+1097_10862+1098insAGGAAGAAGCGACGAAGAAGTGGG GTGACCGGGAATGGGGGCTCACA	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	36/67			chr17	TogoVar
RNF2_chr1_185040558_185107603	185082345	C C	CTTTTTTT others(40): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	350	0.0029	47	c.-2- others(62): Show c.-2-5185_-2-5184insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTT	RNF2	ENSG00000121481.11	transcript	ENST00000367510.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
ROBO1_chr3_78592239_79772998	79771722	A A	ACATATAC others(40): Show ACATATACACACACGTATACATGCACATATACACACACGTATACATGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02451.hp1 HG02717.hp1 others(1): Show HG02055.hp2 HG02451.hp1 HG02717.hp1 HG03579.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0008 others(1): Show a0001c0001 a0001c0002 a0001c0008 a0003c0009	a0001c0001t0014 a0001c0002t0016 a0001c0008t0015 others(1): Show a0001c0001t0014 a0001c0002t0016 a0001c0008t0015 a0003c0009t0017	a0001c0001t0014g0041 a0001c0002t0016g0044 a0001c0008t0015g0043 others(1): Show a0001c0001t0014g0041 a0001c0002t0016g0044 a0001c0008t0015g0043 a0003c0009t0017g0042	4	44	0.0909	47	c.-40 others(58): Show c.-4022_-4021insGCATGTATACGTGTGTGTATATGTGCATGTATAC GTGTGTGTATATG	ROBO1	ENSG00000169855.21	transcript	ENST00000464233.6	protein_coding		3725		chr3	TogoVar
ROCK2_chr2_11174759_11349636	11295990	G G	GAGAGAGA others(40): Show GAGAGAGAGAGAGAGAGAGGAGAGAGAGAGAGAGAGAGGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0018 a0002c0002t0018	a0002c0002t0018g0081 a0002c0002t0018g0081	1	320	0.0031	47	c.142 others(64): Show c.142-8255_142-8254insTCTCTCTCTCCTCTCTCTCTCTCTCTCT CCTCTCTCTCTCTCTCTCT	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32			chr2	TogoVar
RORA_chr15_60483284_61234302	61053863	A A	ATATATAT others(40): Show ATATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0117 a0001c0001t0022g0117	1	118	0.0085	47	c.166 others(68): Show c.166+175189_166+175190insATATATATATATATATATATATAT ATATATATATATATATATATATA	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	1/10			chr15	TogoVar
RPL10_chrX_154393377_154407332	154396712	A A	ATATATAT others(40): Show ATATATATATATATATATATATATATATATATATTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	1	276	0.0036	47	c.-17 others(58): Show c.-1706_-1705insTATATATATATATATATATATATATATATATATT TTTTTTTTTTTTT	RPL10	ENSG00000147403.18	transcript	ENST00000369817.7	protein_coding		1664		chrX	TogoVar
RPS15A_chr16_18776295_18795334	18779470	C C	CCCCCCAC others(40): Show CCCCCCACCCCCCATCCCCCCCCCCCCCCCCCCCCCCCCCCCAACCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0005 a0001c0001t0005g0005	1	350	0.0029	47	c.35 others(58): Show c.3538_*3539insTGGGTTGGGGGGGGGGGGGGGGGGGGGGGGGGGA TGGGGGGTGGGGG	RPS15A	ENSG00000134419.15	transcript	ENST00000322989.8	protein_coding		1824		chr16	TogoVar
RPSA2_chr19_23758004_23833868	23761906	T T	TCTCTCTC others(40): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCGCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0241 a0001c0001t0043g0241	1	366	0.0027	47	c.-15 others(58): Show c.-1531_-1530insCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CGCTCTCTCTCTC	RPSA2	ENSG00000288920.1	transcript	ENST00000484897.4	protein_coding		1097		chr19	TogoVar
RPTOR_chr17_80539838_80971368	80634268	T T	TGTGTGCA others(40): Show TGTGTGCATACTGTGTGTGTGCGTACTGTGTGTGTGCGTACTGTGTGC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp1 HG00544.hp2 others(34): Show HG00140.hp2 HG00423.hp1 HG00544.hp2 HG01070.hp1 HG01074.hp1 HG01099.hp2 HG01168.hp2 HG01175.hp2 HG01258.hp1 HG01261.hp1 HG01361.hp2 HG01517.hp1 HG01884.hp2 HG01934.hp2 HG02015.hp2 HG02129.hp2 HG02258.hp1 HG02486.hp1 HG02630.hp2 HG02683.hp1 HG02723.hp2 HG02895.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03491.hp2 HG03669.hp1 NA18944.hp1 NA18963.hp1 NA18980.hp1 NA19009.hp1 NA19057.hp1 NA19066.hp2 NA19068.hp2 NA19070.hp2 NA20752.hp1 NA20805.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(28): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0008 a0001c0010 a0001c0011 a0001c0013 a0001c0015 a0001c0017 a0001c0019 a0001c0020 a0001c0021 a0001c0022 a0001c0024 a0001c0026 a0001c0027 a0001c0031 a0001c0033 a0001c0044 a0001c0049 a0001c0055 a0001c0070 a0001c0076 a0001c0078 a0001c0079 a0001c0080 a0002c0063 a0003c0069	a0001c0001t0015 a0001c0002t0015 a0001c0002t0039 others(33): Show a0001c0001t0015 a0001c0002t0015 a0001c0002t0039 a0001c0002t0040 a0001c0003t0014 a0001c0003t0038 a0001c0004t0014 a0001c0004t0023 a0001c0006t0022 a0001c0007t0084 a0001c0008t0021 a0001c0010t0056 a0001c0010t0071 a0001c0011t0047 a0001c0013t0021 a0001c0015t0046 a0001c0017t0015 a0001c0019t0042 a0001c0020t0048 a0001c0021t0065 a0001c0022t0022 a0001c0024t0037 a0001c0026t0043 a0001c0027t0016 a0001c0031t0011 a0001c0033t0023 a0001c0044t0045 a0001c0049t0011 a0001c0055t0049 a0001c0070t0020 a0001c0076t0011 a0001c0078t0041 a0001c0079t0050 a0001c0080t0011 a0002c0063t0020 a0003c0069t0044	a0001c0001t0015g0085 a0001c0002t0015g0086 a0001c0002t0039g0088 others(34): Show a0001c0001t0015g0085 a0001c0002t0015g0086 a0001c0002t0039g0088 a0001c0002t0040g0105 a0001c0003t0014g0102 a0001c0003t0038g0087 a0001c0004t0014g0081 a0001c0004t0014g0098 a0001c0004t0023g0074 a0001c0006t0022g0090 a0001c0007t0084g0007 a0001c0008t0021g0091 a0001c0010t0056g0183 a0001c0010t0071g0184 a0001c0011t0047g0076 a0001c0013t0021g0093 a0001c0015t0046g0079 a0001c0017t0015g0082 a0001c0019t0042g0089 a0001c0020t0048g0094 a0001c0021t0065g0112 a0001c0022t0022g0095 a0001c0024t0037g0092 a0001c0026t0043g0096 a0001c0027t0016g0185 a0001c0031t0011g0073 a0001c0033t0023g0075 a0001c0044t0045g0080 a0001c0049t0011g0078 a0001c0055t0049g0083 a0001c0070t0020g0003 a0001c0076t0011g0084 a0001c0078t0041g0100 a0001c0079t0050g0097 a0001c0080t0011g0077 a0002c0063t0020g0001 a0003c0069t0044g0099	37	196	0.1888	47	c.265 others(64): Show c.265+8481_265+8482insATACTGTGTGTGTGCGTACTGTGTGTGT GCGTACTGTGTGCGTGTGC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	2/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80634305	G G	GTACTGTG others(40): Show GTACTGTGTGCGTGTGCGTACTGTGCGTGTGCGTACTGTGCGTGTGCA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01516.hp1 HG02273.hp2 others(4): Show HG00438.hp2 HG01516.hp1 HG02273.hp2 HG03195.hp2 HG03831.hp1 HG03834.hp2 NA19088.hp1	a0001 a0001	a0001c0003 a0001c0008 a0001c0018 others(3): Show a0001c0003 a0001c0008 a0001c0018 a0001c0030 a0001c0051 a0001c0052	a0001c0003t0004 a0001c0008t0036 a0001c0018t0016 others(3): Show a0001c0003t0004 a0001c0008t0036 a0001c0018t0016 a0001c0030t0003 a0001c0051t0060 a0001c0052t0003	a0001c0003t0004g0119 a0001c0008t0036g0002 a0001c0018t0016g0120 others(4): Show a0001c0003t0004g0119 a0001c0008t0036g0002 a0001c0018t0016g0120 a0001c0030t0003g0115 a0001c0030t0003g0117 a0001c0051t0060g0116 a0001c0052t0003g0149	7	196	0.0357	47	c.265 others(64): Show c.265+8519_265+8520insTGCGTGTGCGTACTGTGCGTGTGCGTAC TGTGCGTGTGCATACTGTG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	2/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80864386	C C	CTTCTCAC others(40): Show CTTCTCACAGATTTCCTACAGATGGAAAAGGTGAGCGTGATGGCAGGT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02165.hp1 NA19070.hp2 HG01934.hp1 HG02165.hp1 NA19070.hp2	a0001 a0001	a0001c0003 a0001c0023 a0001c0003 a0001c0023	a0001c0003t0013 a0001c0003t0038 a0001c0023t0008 a0001c0003t0013 a0001c0003t0038 a0001c0023t0008	a0001c0003t0013g0043 a0001c0003t0038g0087 a0001c0023t0008g0134 a0001c0003t0013g0043 a0001c0003t0038g0087 a0001c0023t0008g0134	3	196	0.0153	47	c.150 others(66): Show c.1509+6517_1509+6563dupTGAGCGTGATGGCAGGTTTCTCACAG ATTTCCTACAGATGGAAAAGG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	13/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RSRP1_chr1_25237249_25252454	25240848	A A	ATGGAGCA others(40): Show ATGGAGCAAGAAACCCCTTCTCTAAAAAATAAAGTGTCTATCCCAGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	344	0.0029	47	c.17 others(58): Show c.1740_*1741insGCCTGGGATAGACACTTTATTTTTTAGAGAAGGG GTTTCTTGCTCCA	RSRP1	ENSG00000117616.18	transcript	ENST00000243189.12	protein_coding		1400		chr1	TogoVar
RTL8A_chrX_135045932_135057135	135050313	T T	TTATAATA others(40): Show TTATAATACAATTATATAATTGTATTATAATTGTATTATATACAATTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0000 a0002c0002t0001g0000	1	318	0.0031	47	c.14 others(58): Show c.1453_*1454insCAATTGTATATAATACAATTATAATACAATTATA TAATTGTATTATA	RTL8A	ENSG00000203950.7	transcript	ENST00000370775.3	protein_coding		618		chrX	TogoVar
RTP5_chr2_241864729_241878823	241877971	G G	GCCCCCCA others(40): Show GCCCCCCAACCCCATCCCTCTCCTCGCTCCCCTCCCTCTCCTGGCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19000.hp2 NA19030.hp2 NA19000.hp2 NA19030.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0009c0009 a0001c0001 a0009c0009	a0001c0001t0032 a0009c0009t0004 a0001c0001t0032 a0009c0009t0004	a0001c0001t0032g0006 a0009c0009t0004g0004 a0001c0001t0032g0006 a0009c0009t0004g0004	2	365	0.0055	47	c.46 others(58): Show c.4697_*4698insCCCCCCAACCCCATCCCTCTCCTCGCTCCCCTCC CTCTCCTGGCCGC	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding		4149		chr2	TogoVar
RTP5_chr2_241864729_241878823	241878014	G G	GCCGCCCC others(40): Show GCCGCCCCCCAACCCCATCCCTCTCCTCGCTCCCCTCCCTCTCCCGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0004 a0001c0001t0004g0004	1	365	0.0027	47	c.47 others(58): Show c.4740_*4741insCCGCCCCCCAACCCCATCCCTCTCCTCGCTCCCC TCCCTCTCCCGGC	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding		4192		chr2	TogoVar
RXFP2_chr13_31734526_31808389	31759375	G G	GAGAAAGA others(40): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0339 a0001c0002t0002g0339	1	386	0.0026	47	c.241 others(63): Show c.241+973_241+1019dupGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAA	RXFP2	ENSG00000133105.8	transcript	ENST00000298386.7	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr13	TogoVar
RYR2_chr1_237037184_237838988	237237945	C C	CCCTTTCC others(40): Show CCCTTTCCTTTCCCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0005 a0005	a0005c0033 a0005c0033	a0005c0033t0008 a0005c0033t0008	a0005c0033t0008g0049 a0005c0033t0008g0049	1	100	0.0100	47	c.49- others(64): Show c.49-32540_49-32539insCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCC	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	1/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237473442	T T	TTTCTTTC others(40): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03195.hp1 HG02922.hp2 HG03195.hp1	a0001 a0007 a0001 a0007	a0001c0007 a0007c0046 a0001c0007 a0007c0046	a0001c0007t0016 a0007c0046t0010 a0001c0007t0016 a0007c0046t0010	a0001c0007t0016g0042 a0007c0046t0010g0080 a0001c0007t0016g0042 a0007c0046t0010g0080	2	100	0.0200	47	c.170 others(66): Show c.1708+4275_1708+4276insTTCTTTCTTTCTTTCTTTCTTTCTTT CTTCTTTCTTTCTTTCTTTCT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	17/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR3_chr15_33305967_33871102	33794109	T T	TATACATA others(40): Show TATACATAAATAAATATATATAAATATATACATAATATATATTATATA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02258.hp1 HG02451.hp1 others(1): Show HG02145.hp2 HG02258.hp1 HG02451.hp1 NA20129.hp1	a0019 a0022 a0032 others(1): Show a0019 a0022 a0032 a0046	a0019c0033 a0022c0117 a0032c0036 others(1): Show a0019c0033 a0022c0117 a0032c0036 a0046c0114	a0019c0033t0003 a0022c0117t0002 a0032c0036t0010 others(1): Show a0019c0033t0003 a0022c0117t0002 a0032c0036t0010 a0046c0114t0003	a0019c0033t0003g0152 a0022c0117t0002g0123 a0032c0036t0010g0088 others(1): Show a0019c0033t0003g0152 a0022c0117t0002g0123 a0032c0036t0010g0088 a0046c0114t0003g0011	4	154	0.0260	47	c.983 others(66): Show c.9830+5652_9830+5653insTACATAAATAAATATATATAAATATA TACATAATATATATTATATAA	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	67/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
SAMHD1_chr20_36885229_36956708	36894453	G G	GAACTCCT others(40): Show GAACTCCTGACCTCAGTAAAGGCAATCATTTAGGCCAGGATGGTCTCA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0046 a0001c0002t0046	a0001c0002t0046g0339 a0001c0002t0046g0339	1	340	0.0029	47	c.174 others(66): Show c.1747-1388_1747-1387insTGAGACCATCCTGGCCTAAATGATTG CCTTTACTGAGGTCAGGAGTT	SAMHD1	ENSG00000101347.11	transcript	ENST00000646673.2	protein_coding	15/15			chr20	TogoVar
SARDH_chr9_133658560_133743352	133668443	T T	TCCCTCCC others(40): Show TCCCTCCCTCTCCTCACCCTCCCTCTCCCCTCACCCTCTCTCTCCCTC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0168 a0002c0002t0003g0168	1	262	0.0038	47	c.249 others(66): Show c.2496-1574_2496-1573insGAGGGAGAGAGAGGGTGAGGGGAGAG GGAGGGTGAGGAGAGGGAGGG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SARDH_chr9_133658560_133743352	133669252	C C	CCCTCACC others(40): Show CCCTCACCCTCCCTCTCTCTCTCCTTCCCTCTCCTTCACCCTCCCTCT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0198 a0003c0003t0001g0198	1	262	0.0038	47	c.249 others(66): Show c.2495+1331_2495+1332insAGAGGGAGGGTGAAGGAGAGGGAAGG AGAGAGAGAGGGAGGGTGAGG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SCAI_chr9_124937608_125148528	125106122	A A	AAAAAAAA others(40): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0022 a0001c0007t0022	a0001c0007t0022g0304 a0001c0007t0022g0304	1	306	0.0033	47	c.98+ others(64): Show c.98+36510_98+36511insATATATATATATATATATTTTTTTTTTT TTTTTTTTTTTTTTTTTTT	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	2/17			chr9	TogoVar
SCAMP1_chr5_78355617_78485739	78460820	C C	CCTTCCTT others(40): Show CCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0239	1	332	0.0030	47	c.852 others(64): Show c.852+1461_852+1462insCCTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCARF1_chr17_1628858_1650732	1638608	T T	TGGGCGAC others(40): Show TGGGCGACAAGGCCAGCCCTCCCCACCCCCATCACCTCTGACCCACGG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00639.hp2 others(41): Show HG00099.hp1 HG00140.hp1 HG00639.hp2 HG00642.hp2 HG00735.hp2 HG00738.hp2 HG01070.hp2 HG01099.hp1 HG01106.hp2 HG01123.hp2 HG01167.hp2 HG01169.hp2 HG01255.hp1 HG01257.hp2 HG01258.hp1 HG01433.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01981.hp1 HG01993.hp1 HG02132.hp1 HG02698.hp2 HG02735.hp1 HG03098.hp1 HG03490.hp1 HG03669.hp1 HG03669.hp2 HG03942.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 NA18948.hp2 NA18956.hp1 NA18964.hp2 NA18979.hp2 NA18985.hp1 NA19055.hp2 NA19058.hp2 NA19066.hp2 NA20752.hp1 NA20805.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0012 a0014 a0022	a0001c0001 a0002c0002 a0004c0004 others(3): Show a0001c0001 a0002c0002 a0004c0004 a0012c0014 a0014c0015 a0022c0022	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 others(6): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0005 a0004c0004t0002 a0012c0014t0002 a0014c0015t0002 a0022c0022t0002	a0001c0001t0001g0195 a0002c0002t0001g0177 a0002c0002t0002g0021 others(28): Show a0001c0001t0001g0195 a0002c0002t0001g0177 a0002c0002t0002g0021 a0002c0002t0002g0026 a0002c0002t0002g0041 a0002c0002t0002g0047 a0002c0002t0002g0065 a0002c0002t0002g0091 a0002c0002t0002g0100 a0002c0002t0002g0109 a0002c0002t0002g0128 a0002c0002t0002g0142 a0002c0002t0002g0172 a0002c0002t0002g0175 a0002c0002t0002g0187 a0002c0002t0002g0188 a0002c0002t0003g0174 a0002c0002t0005g0048 a0002c0002t0005g0143 a0002c0002t0005g0173 a0002c0002t0005g0184 a0004c0004t0002g0009 a0004c0004t0002g0040 a0004c0004t0002g0050 a0004c0004t0002g0070 a0004c0004t0002g0140 a0004c0004t0002g0141 a0004c0004t0002g0144 a0012c0014t0002g0228 a0014c0015t0002g0049 a0022c0022t0002g0064	44	401	0.1097	47	c.136 others(64): Show c.1364+151_1364+197dupCCGTGGGTCAGAGGTGATGGGGGTGGGG AGGGCTGGCCTTGTCGCCC	SCARF1	ENSG00000074660.17	transcript	ENST00000263071.9	protein_coding	8/10			chr17	TogoVar
SCARF1_chr17_1628858_1650732	1638655	G G	GGGGCGAC others(40): Show GGGGCGACAAGGCCAGCCCTCCCCACCCCCCTCACCTCTGACCCACGT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0003 a0005c0005t0003	a0005c0005t0003g0118 a0005c0005t0003g0118	1	401	0.0025	47	c.136 others(64): Show c.1364+150_1364+151insACGTGGGTCAGAGGTGAGGGGGGTGGGG AGGGCTGGCCTTGTCGCCC	SCARF1	ENSG00000074660.17	transcript	ENST00000263071.9	protein_coding	8/10			chr17	TogoVar
SCARF1_chr17_1628858_1650732	1638685	A A	ATCACCTC others(40): Show ATCACCTCTGACCCACGGGGGCGACAAGGCCAGCCCTCCCCACCCCCC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01167.hp1 HG02109.hp2 others(22): Show HG00597.hp2 HG01167.hp1 HG02109.hp2 HG02155.hp2 HG02280.hp1 HG02818.hp2 HG02896.hp1 HG02965.hp1 HG02976.hp2 HG03471.hp2 HG03486.hp1 NA18612.hp1 NA18946.hp1 NA18951.hp2 NA18955.hp2 NA18961.hp2 NA18966.hp1 NA18970.hp2 NA18974.hp1 NA18987.hp2 NA19000.hp2 NA19010.hp1 NA19059.hp1 NA19064.hp2 NA19240.hp1	a0003 a0007 a0025 others(1): Show a0003 a0007 a0025 a0031	a0003c0003 a0007c0008 a0025c0026 others(1): Show a0003c0003 a0007c0008 a0025c0026 a0031c0025	a0003c0003t0002 a0003c0003t0003 a0003c0003t0004 others(3): Show a0003c0003t0002 a0003c0003t0003 a0003c0003t0004 a0007c0008t0002 a0025c0026t0002 a0031c0025t0002	a0003c0003t0002g0008 a0003c0003t0002g0032 a0003c0003t0002g0039 others(17): Show a0003c0003t0002g0008 a0003c0003t0002g0032 a0003c0003t0002g0039 a0003c0003t0002g0055 a0003c0003t0002g0058 a0003c0003t0002g0062 a0003c0003t0002g0075 a0003c0003t0002g0097 a0003c0003t0002g0101 a0003c0003t0002g0122 a0003c0003t0002g0123 a0003c0003t0002g0186 a0003c0003t0002g0214 a0003c0003t0003g0076 a0003c0003t0003g0095 a0003c0003t0003g0165 a0003c0003t0004g0083 a0007c0008t0002g0084 a0025c0026t0002g0215 a0031c0025t0002g0089	25	401	0.0623	47	c.136 others(64): Show c.1364+120_1364+121insGGGGGGTGGGGAGGGCTGGCCTTGTCGC CCCCGTGGGTCAGAGGTGA	SCARF1	ENSG00000074660.17	transcript	ENST00000263071.9	protein_coding	8/10			chr17	TogoVar
SCARF1_chr17_1628858_1650732	1638685	A A	ATCACCTC others(40): Show ATCACCTCTGACCCACGTGGGCAACAAGGCCAGCCCTCCCCACCCCCC	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	401	0.0025	47	c.136 others(64): Show c.1364+120_1364+121insGGGGGGTGGGGAGGGCTGGCCTTGTTGC CCACGTGGGTCAGAGGTGA	SCARF1	ENSG00000074660.17	transcript	ENST00000263071.9	protein_coding	8/10			chr17	TogoVar
SCHIP1_chr3_159268244_159902359	159468756	A A	AATATATA others(40): Show AATATATATATATATATATATAATATAATATATAATATATAATATAAT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0086 a0001c0002t0001g0086	1	100	0.0100	47	c.63+ others(66): Show c.63+194894_63+194895insATATAATATATAATATATAATATAAT ATATATATATATATATATATA	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCN11A_chr3_38840764_39056944	38963352	G G	GATATATA others(40): Show GATATATATATATATATATATATATATATATATATATGATGGAGATAT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0102 a0001c0001t0002g0102	1	314	0.0032	47	c.-27 others(66): Show c.-279-2930_-279-2929insATATCTCCATCATATATATATATATA TATATATATATATATATATAT	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	2/29			chr3	TogoVar
SCN2A_chr2_165234414_165397304	165291519	C C	CTTTTTCT others(40): Show CTTTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18992.hp1 NA18961.hp2 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0098 a0001c0001t0002g0194 a0001c0001t0002g0098 a0001c0001t0002g0194	2	358	0.0056	47	c.-51 others(64): Show c.-51-4254_-51-4253insTTTTTCTTTCTTTCTTTCTTTTCTTTCT TTCTTTTCTTTCTTTCTTT	SCN2A	ENSG00000136531.19	transcript	ENST00000375437.7	protein_coding	1/26			chr2	TogoVar
SCN2A_chr2_165234414_165397304	165291528	C C	CTTTCTTT others(40): Show CTTTCTTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTCCT	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0255 a0001c0001t0002g0255	1	358	0.0028	47	c.-51 others(64): Show c.-51-4245_-51-4244insTTTCTTTTCTTTCTTTCTTTTCTTTCTT TCTTTCTTTCTTTCTTCCT	SCN2A	ENSG00000136531.19	transcript	ENST00000375437.7	protein_coding	1/26			chr2	TogoVar
SCUBE1_chr22_43192280_43348372	43339677	C C	CTCTATGC others(40): Show CTCTATGCCCCCACAAGCATTGCTCCAACCCTCCCCCACTCTCCTCAT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0004 a0004	a0004c0048 a0004c0048	a0004c0048t0072 a0004c0048t0072	a0004c0048t0072g0247 a0004c0048t0072g0247	1	280	0.0036	47	c.89- others(60): Show c.89-443_89-442insATGAGGAGAGTGGGGGAGGGTTGGAGCAATGC TTGTGGGGGCATAGA	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	1/21			chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43339743	A A	AGCTCCAA others(40): Show AGCTCCAACCCTCCCCCACTCTCCTCATTCTATCCCCCCACAAGCACT	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0224 a0002c0002t0002g0224	1	280	0.0036	47	c.89- others(60): Show c.89-509_89-508insAGTGCTTGTGGGGGGATAGAATGAGGAGAGTG GGGGAGGGTTGGAGC	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	1/21			chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43339818	T T	TTCTATCC others(40): Show TTCTATCCCCCCACAAGCATCGCTCCAACCCTCCCCTACTCTCCTCAC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02630.hp1 HG02809.hp1 others(3): Show HG02109.hp2 HG02630.hp1 HG02809.hp1 HG02897.hp2 HG03098.hp2 HG03486.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0004 a0001c0012 a0001c0021 others(2): Show a0001c0004 a0001c0012 a0001c0021 a0002c0002 a0007c0023	a0001c0004t0004 a0001c0012t0096 a0001c0021t0022 others(3): Show a0001c0004t0004 a0001c0012t0096 a0001c0021t0022 a0002c0002t0060 a0002c0002t0095 a0007c0023t0082	a0001c0004t0004g0078 a0001c0012t0096g0277 a0001c0021t0022g0075 others(3): Show a0001c0004t0004g0078 a0001c0012t0096g0277 a0001c0021t0022g0075 a0002c0002t0060g0072 a0002c0002t0095g0278 a0007c0023t0082g0073	6	280	0.0214	47	c.89- others(60): Show c.89-584_89-583insGTGAGGAGAGTAGGGGAGGGTTGGAGCGATGC TTGTGGGGGGATAGA	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	1/21			chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43339868	T T	TCCCCCCA others(40): Show TCCCCCCACAAGCATCACTCCAACCCTCCCCTACTCTCCTCATTCTAC	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0185 a0002c0005t0001g0185	1	280	0.0036	47	c.89- others(60): Show c.89-680_89-634dupGTAGAATGAGGAGAGTAGGGGAGGGTTGGAGT GATGCTTGTGGGGGG	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	1/21			chr22	TogoVar
SDCCAG8_chr1_243251041_243505091	243327434	T T	TAATTATA others(40): Show TAATTATAATTTTATAGAAATTAAAATTATAATTTATAATTTTATAGA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	189	0.0053	47	c.106 others(66): Show c.1069-3102_1069-3101insATAATTTTATAGAAATTAAAATTATA ATTTATAATTTTATAGAAATT	SDCCAG8	ENSG00000054282.16	transcript	ENST00000366541.8	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SDF2_chr17_28643346_28666906	28663828	A A	ATTTTTTT others(40): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0143 a0001c0001t0002g0143	1	398	0.0025	47	c.-19 others(58): Show c.-1953_-1952insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAA	SDF2	ENSG00000132581.10	transcript	ENST00000247020.9	protein_coding		1923		chr17	TogoVar

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