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
SLC9C2_chr1_173495460_173608072	173526721	AAAATTAA others(41): Show AAAATTAAGAAAAACATGTATTTCTTATTATTCATATAGTTTCTGTAAG	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01069.hp1 HG01192.hp1 HG01243.hp1 others(29): Show HG01069.hp1 HG01192.hp1 HG01243.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG02109.hp1 HG02486.hp2 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02717.hp1 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp2 HG03139.hp2 HG03209.hp2 HG03453.hp1 HG03471.hp2 HG03540.hp2 NA18906.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA20129.hp1 NA21309.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0005	a0001c0001 a0001c0006 a0001c0012 others(4): Show a0001c0001 a0001c0006 a0001c0012 a0003c0003 a0003c0014 a0004c0007 a0005c0009	a0001c0001t0002 a0001c0006t0002 a0001c0012t0001 others(4): Show a0001c0001t0002 a0001c0006t0002 a0001c0012t0001 a0003c0003t0002 a0003c0014t0002 a0004c0007t0001 a0005c0009t0002	a0001c0001t0002g0290 a0001c0001t0002g0297 a0001c0006t0002g0073 others(29): Show a0001c0001t0002g0290 a0001c0001t0002g0297 a0001c0006t0002g0073 a0001c0006t0002g0074 a0001c0012t0001g0030 a0003c0003t0002g0024 a0003c0003t0002g0025 a0003c0003t0002g0026 a0003c0003t0002g0027 a0003c0003t0002g0028 a0003c0003t0002g0031 a0003c0003t0002g0032 a0003c0003t0002g0033 a0003c0003t0002g0034 a0003c0003t0002g0037 a0003c0003t0002g0128 a0003c0003t0002g0199 a0003c0003t0002g0221 a0003c0014t0002g0035 a0003c0014t0002g0036 a0004c0007t0001g0067 a0004c0007t0001g0068 a0004c0007t0001g0069 a0004c0007t0001g0070 a0004c0007t0001g0071 a0004c0007t0001g0116 a0005c0009t0002g0059 a0005c0009t0002g0060 a0005c0009t0002g0061 a0005c0009t0002g0062 a0005c0009t0002g0063 a0005c0009t0002g0064	32	314	0.1019	-48	c.231 others(62): Show c.2314-55_2314-8delCTTACAGAAACTATATGAATAATAAGAAATA CATGTTTTTCTTAATTT	SLC9C2	ENSG00000162753.13	transcript	ENST00000367714.4	protein_coding	18/27			chr1	TogoVar
SLIT3_chr5_168656740_169306139	169290020	AATATGCT others(41): Show AATATGCTAGAACGTACATTAGGGCATACGCCAGGGCACACACTAGGAC	A A	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA19056.hp2 NA18974.hp1 NA19056.hp2	a0002 a0002	a0002c0030 a0002c0062 a0002c0030 a0002c0062	a0002c0030t0002 a0002c0062t0029 a0002c0030t0002 a0002c0062t0029	a0002c0030t0002g0033 a0002c0062t0029g0032 a0002c0030t0002g0033 a0002c0062t0029g0032	2	132	0.0152	-48	c.197 others(67): Show c.197+10445_197+10492delGTCCTAGTGTGTGCCCTGGCGTATGC CCTAATGTACGTTCTAGCATAT	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	1/35			chr5	TogoVar
SLTM_chr15_58874050_58938679	58922512	CGTATAAA others(41): Show CGTATAAAATTTATACGTATATAATATATTTTATATGTATATAATATGT	C C	intron_variant intron_variant	MODIFIER	NA19006.hp1 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	384	0.0026	-48	c.251 others(65): Show c.251-5561_251-5514delACATATTATATACATATAAAATATATTA TATACGTATAAATTTTATAC	SLTM	ENSG00000137776.17	transcript	ENST00000380516.7	protein_coding	2/20			chr15	TogoVar
SMARCC1_chr3_47580269_47786893	47608801	ATCATGTC others(41): Show ATCATGTCACTGCACTCCAGCCTAGACAACAGAGCGAGACAGTGTCTTT	A A	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0102 a0001c0002t0002g0102	1	218	0.0046	-48	c.304 others(67): Show c.3043+1217_3043+1264delAAAGACACTGTCTCGCTCTGTTGTCT AGGCTGGAGTGCAGTGACATGA	SMARCC1	ENSG00000173473.11	transcript	ENST00000254480.10	protein_coding	26/27			chr3	TogoVar
SMIM10L1_chr12_11166194_11181016	11168259	AGAAAGAA others(41): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG01123.hp2 HG01975.hp2 others(13): Show HG00140.hp2 HG01123.hp2 HG01975.hp2 HG02083.hp2 HG02135.hp1 HG02293.hp1 HG03704.hp2 NA18962.hp2 NA18966.hp1 NA18966.hp2 NA18982.hp2 NA18999.hp1 NA18999.hp2 NA19011.hp1 NA19011.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	16	361	0.0443	-48	c.-30 others(59): Show c.-3097_-3050delGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAGGAAG	SMIM10L1	ENSG00000256537.5	transcript	ENST00000622602.2	protein_coding		2934		chr12	TogoVar
SMIM10L1_chr12_11166194_11181016	11168267	AGAAAGAA others(41): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	337	0.0030	-48	c.-30 others(59): Show c.-3089_-3042delGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AGGAAGGAAGGAAG	SMIM10L1	ENSG00000256537.5	transcript	ENST00000622602.2	protein_coding		2926		chr12	TogoVar
SMOC2_chr6_168436184_168672992	168592681	GGGCATCT others(41): Show GGGCATCTTTCTAGAGGATGGCCGAGCTCCTCCTCCTTCCTGAGGCCTC	G G	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	1	130	0.0077	-48	c.638 others(65): Show c.638-6136_638-6089delGGCATCTTTCTAGAGGATGGCCGAGCTC CTCCTCCTTCCTGAGGCCTC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12			chr6	TogoVar
SMOC2_chr6_168436184_168672992	168592732	GGGCATCT others(41): Show GGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTTCTTCCTGAGGCCTC	G G	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0069 a0001c0002t0005g0069	1	172	0.0058	-48	c.638 others(65): Show c.638-6085_638-6038delGGCATCTTTCTAGAGGATCTCCGAGCTC CTCCTTCTTCCTGAGGCCTC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12			chr6	TogoVar
SMOC2_chr6_168436184_168672992	168593191	GGGCATCT others(41): Show GGGCATCTTTCTAGAGGATCGCCGAGCTCCTCCTCCTTCCTGAGGACTC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00597.hp1 HG01081.hp1 others(20): Show HG00099.hp2 HG00597.hp1 HG01081.hp1 HG01243.hp2 HG01516.hp1 HG01516.hp2 HG02109.hp2 HG02602.hp1 HG02896.hp1 HG03139.hp2 HG03195.hp1 HG03654.hp1 HG03834.hp1 HG03834.hp2 HG04199.hp1 HG04199.hp2 NA18612.hp1 NA18941.hp1 NA18951.hp2 NA18960.hp2 NA18963.hp1 NA19000.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 a0001c0002t0013 a0001c0002t0016 a0001c0004t0005	a0001c0001t0001g0088 a0001c0001t0001g0095 a0001c0001t0001g0131 others(20): Show a0001c0001t0001g0088 a0001c0001t0001g0095 a0001c0001t0001g0131 a0001c0001t0001g0147 a0001c0001t0001g0153 a0001c0001t0001g0159 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0004g0122 a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0021 a0001c0002t0002g0022 a0001c0002t0002g0030 a0001c0002t0002g0039 a0001c0002t0002g0055 a0001c0002t0002g0056 a0001c0002t0002g0057 a0001c0002t0002g0059 a0001c0002t0002g0068 a0001c0002t0013g0062 a0001c0002t0016g0046 a0001c0004t0005g0048	23	178	0.1292	-48	c.638 others(65): Show c.638-5626_638-5579delGGCATCTTTCTAGAGGATCGCCGAGCTC CTCCTCCTTCCTGAGGACTC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12			chr6	TogoVar
SMOC2_chr6_168436184_168672992	168593242	GGGCGTCT others(41): Show GGGCGTCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGGCCTC	G G	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02129.hp2 HG02895.hp2 others(3): Show HG01496.hp2 HG02129.hp2 HG02895.hp2 HG02897.hp2 HG03490.hp1 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 a0001c0002t0008	a0001c0001t0001g0156 a0001c0001t0004g0118 a0001c0002t0002g0028 others(3): Show a0001c0001t0001g0156 a0001c0001t0004g0118 a0001c0002t0002g0028 a0001c0002t0002g0040 a0001c0002t0002g0041 a0001c0002t0008g0047	6	177	0.0339	-48	c.638 others(65): Show c.638-5575_638-5528delGGCGTCTTTCTAGAGGATCTCCGAGCTC CTCCTCCTTCCTGAGGCCTC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12			chr6	TogoVar
SMOC2_chr6_168436184_168672992	168593752	GGGCATCT others(41): Show GGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGGCCTC	G G	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	1	178	0.0056	-48	c.638 others(65): Show c.638-5065_638-5018delGGCATCTTTCTAGAGGATCTCCGAGCTC CTCCTCCTTCCTGAGGCCTC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12			chr6	TogoVar
SMOC2_chr6_168436184_168672992	168593803	GGGCATCT others(41): Show GGGCATCTTTCTAGAGGATGGCCGAGCTCCTCCTCCTTCCTGAGGCCTC	G G	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0069 a0001c0002t0005g0069	1	177	0.0056	-48	c.638 others(65): Show c.638-5014_638-4967delGGCATCTTTCTAGAGGATGGCCGAGCTC CTCCTCCTTCCTGAGGCCTC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12			chr6	TogoVar
SMOC2_chr6_168436184_168672992	168594630	GCATCTTT others(41): Show GCATCTTTCTAGAGGATGGCCGAGCTCCTCCTCCTTCCTGAGGCCTCAC	G G	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0035 a0001c0002t0002g0035	1	178	0.0056	-48	c.638 others(65): Show c.638-4187_638-4140delCATCTTTCTAGAGGATGGCCGAGCTCCT CCTCCTTCCTGAGGCCTCAC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12			chr6	TogoVar
SMURF1_chr7_99022440_99149108	99063237	TTATTTAT others(41): Show TTATTTATATATATATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	166	0.0060	-48	c.56- others(63): Show c.56-1448_56-1401delTATATATATATATATATATATATATATATA TATATATATATATAAATA	SMURF1	ENSG00000198742.10	transcript	ENST00000361368.7	protein_coding	1/17			chr7	TogoVar
SMURF1_chr7_99022440_99149108	99063241	TTATATAT others(41): Show TTATATATATATATATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	120	0.0083	-48	c.56- others(63): Show c.56-1452_56-1405delTATATATATATATATATATATATATATATA TATATATATATATATATA	SMURF1	ENSG00000198742.10	transcript	ENST00000361368.7	protein_coding	1/17			chr7	TogoVar
SMYD3_chr1_245744347_246512279	245974989	TAGGGAAA others(41): Show TAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCCGGCCC	T T	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	120	0.0083	-48	c.532 others(67): Show c.532-45100_532-45053delGGGCCGGAGACGATGGCTTTCCCTAG GCTAGAGACGATGGCTTTCCCT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245975085	CAGGGAAA others(41): Show CAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTGTAGCCT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG03130.hp1 NA18962.hp2 HG00423.hp1 HG03130.hp1 NA18962.hp2	a0002 a0002	a0002c0003 a0002c0017 a0002c0003 a0002c0017	a0002c0003t0002 a0002c0017t0001 a0002c0003t0002 a0002c0017t0001	a0002c0003t0002g0102 a0002c0003t0002g0110 a0002c0017t0001g0139 a0002c0003t0002g0102 a0002c0003t0002g0110 a0002c0017t0001g0139	3	127	0.0236	-48	c.532 others(67): Show c.532-45196_532-45149delAGGCTACAGACGATGGCTTTCCCTAG GCTAGAGACGATGGCTTTCCCT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245975109	TAGGGAAA others(41): Show TAGGGAAAGCCATCGTCTGTAGCCTAGGGAAAGCCATCGTCTCCGGCCC	T T	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02970.hp2 HG02886.hp2 HG02970.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0003 a0002c0003t0001g0096 a0001c0001t0001g0003 a0002c0003t0001g0096	2	125	0.0160	-48	c.532 others(67): Show c.532-45220_532-45173delGGGCCGGAGACGATGGCTTTCCCTAG GCTACAGACGATGGCTTTCCCT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245975129	AGCCTAGG others(41): Show AGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCG	A A	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0012 a0001c0002t0001g0012	1	125	0.0080	-48	c.532 others(67): Show c.532-45240_532-45193delCGGAGACGATGGCTTTCCCTGGGCCG GAGACGATGGCTTTCCCTAGGC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245975421	CAGGGAAA others(41): Show CAGGGAAAGCCATCGTCTCTGGCCTAGGGAAAGCCATCGTCTCTAGCCT	C C	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0121 a0002c0003t0001g0121	1	135	0.0074	-48	c.532 others(67): Show c.532-45532_532-45485delAGGCTAGAGACGATGGCTTTCCCTAG GCCAGAGACGATGGCTTTCCCT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245975445	TAGGGAAA others(41): Show TAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCCGGCCC	T T	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0081 a0001c0006t0001g0081	1	95	0.0105	-48	c.532 others(67): Show c.532-45556_532-45509delGGGCCGGAGACGATGGCTTTCCCTAG GCTAGAGACGATGGCTTTCCCT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245975541	CAGGGAAA others(41): Show CAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTGTAGCCT	C C	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02647.hp1 HG02027.hp2 HG02647.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0002 a0002c0004t0001 a0001c0001t0002 a0002c0004t0001	a0001c0001t0002g0020 a0002c0004t0001g0107 a0001c0001t0002g0020 a0002c0004t0001g0107	2	144	0.0139	-48	c.532 others(67): Show c.532-45652_532-45605delAGGCTACAGACGATGGCTTTCCCTAG GCTAGAGACGATGGCTTTCCCT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245975561	AGCCTAGG others(41): Show AGCCTAGGGAAAGCCATCGTCTGTAGCCTAGGGAAAGCCATCGTCTCCG	A A	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG03209.hp1 HG00544.hp2 HG03209.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0053 a0002c0003t0001g0121 a0001c0001t0001g0053 a0002c0003t0001g0121	2	111	0.0180	-48	c.532 others(67): Show c.532-45672_532-45625delCGGAGACGATGGCTTTCCCTAGGCTA CAGACGATGGCTTTCCCTAGGC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245975585	AGCCTAGG others(41): Show AGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCG	A A	intron_variant intron_variant	MODIFIER	HG03098.hp1 NA19090.hp2 HG03098.hp1 NA19090.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0015 a0001c0002t0002g0040 a0001c0002t0001g0015 a0001c0002t0002g0040	2	105	0.0190	-48	c.532 others(67): Show c.532-45696_532-45649delCGGAGACGATGGCTTTCCCTGGGCCG GAGACGATGGCTTTCCCTAGGC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245975751	CCGGCCCA others(41): Show CCGGCCCAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTG	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03098.hp2 HG01243.hp2 HG03098.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0002c0003t0002 a0001c0002t0001 a0002c0003t0002	a0001c0002t0001g0070 a0002c0003t0002g0124 a0001c0002t0001g0070 a0002c0003t0002g0124	2	149	0.0134	-48	c.532 others(67): Show c.532-45862_532-45815delCAGACGATGGCTTTCCCTAGGCTAGA GACGATGGCTTTCCCTGGGCCG	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245975757	CAGGGAAA others(41): Show CAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTGTAGCCT	C C	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02071.hp2 HG02559.hp1 HG02056.hp2 HG02071.hp2 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0038 a0001c0001t0002g0051 a0001c0002t0001g0009 a0001c0001t0002g0038 a0001c0001t0002g0051 a0001c0002t0001g0009	3	141	0.0213	-48	c.532 others(67): Show c.532-45868_532-45821delAGGCTACAGACGATGGCTTTCCCTAG GCTAGAGACGATGGCTTTCCCT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245975867	GTCTCCGG others(41): Show GTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01081.hp1 HG01975.hp2 HG00408.hp1 HG01081.hp1 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002	a0001c0001t0002g0076 a0001c0002t0001g0062 a0001c0002t0002g0083 a0001c0001t0002g0076 a0001c0002t0001g0062 a0001c0002t0002g0083	3	150	0.0200	-48	c.532 others(67): Show c.532-45978_532-45931delTGATGGCTTTCCCTGGGCCGGAGACG ATGGCTTTCCCTGGGCCGGAGA	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245975901	CAGGGAAA others(41): Show CAGGGAAAGCCATCATCTCTAGCCTAGGGAAAGCCATCGTCTGTAGCCT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01081.hp2 HG02056.hp2 others(2): Show HG00423.hp1 HG01081.hp2 HG02056.hp2 NA18963.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0002c0003t0002 a0001c0001t0001 a0001c0001t0002 a0002c0003t0002	a0001c0001t0001g0005 a0001c0001t0002g0051 a0001c0001t0002g0059 others(2): Show a0001c0001t0001g0005 a0001c0001t0002g0051 a0001c0001t0002g0059 a0002c0003t0002g0110 a0002c0003t0002g0122	5	139	0.0360	-48	c.532 others(67): Show c.532-46012_532-45965delAGGCTACAGACGATGGCTTTCCCTAG GCTAGAGATGATGGCTTTCCCT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245975925	TAGGGAAA others(41): Show TAGGGAAAGCCATCGTCTGTAGCCTAGGGAAAGCCATCGTCTCCGGCCC	T T	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0066 a0001c0002t0001g0066	1	109	0.0092	-48	c.532 others(67): Show c.532-46036_532-45989delGGGCCGGAGACGATGGCTTTCCCTAG GCTACAGACGATGGCTTTCCCT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245975993	GGCCTAGG others(41): Show GGCCTAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTA	G G	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0103 a0002c0003t0001g0103	1	129	0.0078	-48	c.532 others(67): Show c.532-46104_532-46057delTAGAGACGATGGCTTTCCCTAGGCTA GAGACGATGGCTTTCCCTAGGC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976069	TAGGGAAA others(41): Show TAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCC	T T	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG03831.hp2 HG02165.hp1 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0029 a0001c0002t0001g0034 a0001c0001t0001g0029 a0001c0002t0001g0034	2	107	0.0187	-48	c.532 others(67): Show c.532-46180_532-46133delGGGCTAGAGACGATGGCTTTCCCTGG GCCGGAGACGATGGCTTTCCCT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976257	GGCCCAGG others(41): Show GGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTA	G G	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	120	0.0083	-48	c.532 others(67): Show c.532-46368_532-46321delTAGAGACGATGGCTTTCCCTGGGCTA GAGACGATGGCTTTCCCTGGGC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976401	AGCCCAGG others(41): Show AGCCCAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCCG	A A	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0002 a0001c0014t0002	a0001c0014t0002g0055 a0001c0014t0002g0055	1	118	0.0085	-48	c.532 others(67): Show c.532-46512_532-46465delCGGAGACGATGGCTTTCCCTAGGCTA GAGACGATGGCTTTCCCTGGGC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976473	GGCCCAGG others(41): Show GGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTA	G G	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0002 a0001c0011t0002	a0001c0011t0002g0018 a0001c0011t0002g0018	1	127	0.0079	-48	c.532 others(67): Show c.532-46584_532-46537delTAGAGACGATGGCTTTCCCTGGGCCG GAGACGATGGCTTTCCCTGGGC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976501	CAGGGAAA others(41): Show CAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCT	C C	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0095 a0002c0003t0002g0095	1	131	0.0076	-48	c.532 others(67): Show c.532-46612_532-46565delAGGCTAGAGACGATGGCTTTCCCTGG GCTAGAGACGATGGCTTTCCCT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976592	CAGCCCAG others(41): Show CAGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCT	C C	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	102	0.0098	-48	c.532 others(67): Show c.532-46703_532-46656delAGAGACGATGGCTTTCCCTGGGCCGG AGACGATGGCTTTCCCTGGGCT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976713	AGCCCAGG others(41): Show AGCCCAGGGAAAGCCATCGTCTCCAGCCCAGGGAAAGCCATCGTCTCCG	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 NA18963.hp2 HG02280.hp1 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0009t0001 a0001c0001t0001 a0001c0009t0001	a0001c0001t0001g0005 a0001c0009t0001g0002 a0001c0001t0001g0005 a0001c0009t0001g0002	2	124	0.0161	-48	c.532 others(67): Show c.532-46824_532-46777delCGGAGACGATGGCTTTCCCTGGGCTG GAGACGATGGCTTTCCCTGGGC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976736	CAGCCCAG others(41): Show CAGCCCAGGGAAAGCCATCGTCTCCGGCCTAGGGAAAGCCATCGTCTCT	C C	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0072 a0001c0002t0001g0072	1	121	0.0083	-48	c.532 others(67): Show c.532-46847_532-46800delAGAGACGATGGCTTTCCCTAGGCCGG AGACGATGGCTTTCCCTGGGCT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976789	CAGGGAAA others(41): Show CAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTAGCCT	C C	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0116 a0002c0004t0002g0116	1	121	0.0083	-48	c.532 others(67): Show c.532-46900_532-46853delAGGCTAGAGACGATGGCTTTCCCTAG GCTAGAGACGATGGCTTTCCCT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976885	CAGGGAAA others(41): Show CAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTAGCCT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0124 a0002c0003t0002g0124	1	130	0.0077	-48	c.532 others(67): Show c.532-46996_532-46949delAGGCTAGAGACGATGGCTTTCCCTAG GCTAGAGACGATGGCTTTCCCT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976957	TAGGGAAA others(41): Show TAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCC	T T	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0141 a0002c0007t0001g0141	1	96	0.0104	-48	c.532 others(67): Show c.532-47068_532-47021delGGGCTAGAGACGATGGCTTTCCCTGG GCCGGAGACGATGGCTTTCCCT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976977	GGCCCAGG others(41): Show GGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTA	G G	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG02622.hp1 HG03017.hp1 HG01975.hp2 HG02622.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0067 a0001c0001t0002g0033 a0001c0002t0001g0062 a0001c0001t0001g0067 a0001c0001t0002g0033 a0001c0002t0001g0062	3	116	0.0259	-48	c.532 others(67): Show c.532-47088_532-47041delTAGAGACGATGGCTTTCCCTGGGCTA GAGACGATGGCTTTCCCTGGGC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245977001	AGCCCAGG others(41): Show AGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCCG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02109.hp2 HG02258.hp1 HG00140.hp2 HG02109.hp2 HG02258.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0005 a0001c0002 a0002c0005	a0001c0002t0001 a0001c0002t0002 a0002c0005t0002 a0001c0002t0001 a0001c0002t0002 a0002c0005t0002	a0001c0002t0001g0037 a0001c0002t0002g0061 a0002c0005t0002g0133 a0001c0002t0001g0037 a0001c0002t0002g0061 a0002c0005t0002g0133	3	96	0.0313	-48	c.532 others(67): Show c.532-47112_532-47065delCGGAGACGATGGCTTTCCCTGGGCTA GAGACGATGGCTTTCCCTGGGC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246233729	ACTCCTCA others(41): Show ACTCCTCAATTCACACTGTGATGAACATATACCACGCAGAGGAGAAACG	A A	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0017 a0001c0002t0001g0017	1	150	0.0067	-48	c.531 others(67): Show c.531+93424_531+93471delCGTTTCTCCTCTGCGTGGTATATGTT CATCACAGTGTGAATTGAGGAG	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SNAPC4_chr9_136370571_136405170	136403295	CCCAGGGA others(41): Show CCCAGGGAGCAAGGGGTGGGGTTTGCCGGGGGGAGAAAGGGACAGGGTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03491.hp2 HG03492.hp1 HG03491.hp2 HG03492.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0033 a0001c0006t0001g0124 a0001c0006t0001g0033 a0001c0006t0001g0124	2	378	0.0053	-48	c.-32 others(59): Show c.-3219_-3172delAACCCTGTCCCTTTCTCCCCCCGGCAAACCCCAC CCCTTGCTCCCTGG	SNAPC4	ENSG00000165684.6	transcript	ENST00000684778.1	protein_coding		3126		chr9	TogoVar
SNAPC4_chr9_136370571_136405170	136403416	CGGGGAAG others(41): Show CGGGGAAGAAAGGGACAGGGTTCCTGGGAGCAAGGGGTGGGGTTTGCCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 HG03540.hp2 HG02922.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0090 a0001c0001t0001g0006 a0001c0001t0001g0090	2	328	0.0061	-48	c.-33 others(59): Show c.-3340_-3293delCGGCAAACCCCACCCCTTGCTCCCAGGAACCCTG TCCCTTTCTTCCCC	SNAPC4	ENSG00000165684.6	transcript	ENST00000684778.1	protein_coding		3247		chr9	TogoVar
SNTG2_chr2_945849_1372613	983266	GGGATGAA others(41): Show GGGATGAAGCAGAGGCTCTCTTCCATAGAAGCTGCGGAGGTGGTGGTCA	G G	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0069 a0001c0002t0001g0069	1	188	0.0053	-48	c.72+ others(65): Show c.72+32207_72+32254delCAGAGGCTCTCTTCCATAGAAGCTGCGG AGGTGGTGGTCAGGATGAAG	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1005806	AATATATA others(41): Show AATATATATATATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02258.hp1 NA21309.hp1 HG01891.hp1 HG02258.hp1 NA21309.hp1	a0004 a0006 a0004 a0006	a0004c0004 a0006c0009 a0004c0004 a0006c0009	a0004c0004t0001 a0006c0009t0001 a0004c0004t0001 a0006c0009t0001	a0004c0004t0001g0087 a0004c0004t0001g0088 a0006c0009t0001g0050 a0004c0004t0001g0087 a0004c0004t0001g0088 a0006c0009t0001g0050	3	13	0.2308	-48	c.72+ others(65): Show c.72+54760_72+54807delTATATATATATATATATATATATATATA TATATATATATATATATATA	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNX4_chr3_125441650_125525202	125458833	AAAAAAAA others(41): Show AAAAAAAAAAAAAGAAAAGAAAAGATTCTAATACAGCAATGCACAAAGT	A A	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG02071.hp1 NA18961.hp2 others(3): Show HG01943.hp2 HG02071.hp1 NA18961.hp2 NA18989.hp1 NA19006.hp2 NA19080.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0002 a0001c0001t0002 a0002c0002t0002	a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0271 others(3): Show a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0271 a0001c0001t0002g0274 a0002c0002t0002g0003 a0002c0002t0002g0007	6	358	0.0168	-48	c.945 others(65): Show c.945-1516_945-1469delACTTTGTGCATTGCTGTATTAGAATCTT TTCTTTTCTTTTTTTTTTTT	SNX4	ENSG00000114520.11	transcript	ENST00000251775.9	protein_coding	10/13			chr3	TogoVar
SNX8_chr7_2246770_2319441	2303010	TGGGGGTC others(41): Show TGGGGGTCAGCCCCCGCCAGGCCAGCCGCCCCGTCCAGGAGGGAGGTGG	T T	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0347 a0001c0002t0010g0347	1	367	0.0027	-48	c.94+ others(65): Show c.94+11270_94+11317delCCACCTCCCTCCTGGACGGGGCGGCTGG CCTGGCGGGGGCTGACCCCC	SNX8	ENSG00000106266.11	transcript	ENST00000222990.8	protein_coding	1/10			chr7	TogoVar

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