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
CFH_chr1_196647043_196752504	196689262	T T	TATGAGAT others(6): Show TATGAGATATAGAA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0077 a0004c0004t0001g0077	1	306	0.0033	13	c.965 others(28): Show c.965-158_965-157insATGAGATATAGAA	CFH	ENSG00000000971.17	transcript	ENST00000367429.9	protein_coding	7/21			chr1	TogoVar
CFI_chr4_109735695_109806999	109753612	T T	TATATAAT others(6): Show TATATAATGTATAA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0297 a0003c0004t0001g0297	1	223	0.0045	13	c.905 others(30): Show c.905-1110_905-1109insTTATACATTATAT	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	7/12			chr4	TogoVar
CFI_chr4_109735695_109806999	109753612	T T	TATCTAAT others(6): Show TATCTAATGTATAA	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02615.hp2 HG02622.hp1 others(8): Show HG02027.hp1 HG02615.hp2 HG02622.hp1 HG02809.hp2 HG02922.hp2 HG02970.hp2 HG03098.hp2 HG03139.hp2 HG03209.hp1 HG03471.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0273 a0001c0001t0001g0320 a0001c0001t0001g0323 others(8): Show a0001c0001t0001g0273 a0001c0001t0001g0320 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0002g0322 a0001c0001t0002g0332 a0001c0002t0001g0138	11	233	0.0472	13	c.905 others(30): Show c.905-1110_905-1109insTTATACATTAGAT	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	7/12			chr4	TogoVar
CFLAR_chr2_201111164_201181687	201114047	T T	TATATATA others(6): Show TATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp1 NA20752.hp1 HG02717.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0063 a0001c0002t0021 a0001c0001t0063 a0001c0002t0021	a0001c0001t0063g0045 a0001c0002t0021g0067 a0001c0001t0063g0045 a0001c0002t0021g0067	2	180	0.0111	13	c.-25 others(24): Show c.-2572_-2571insATATATATATATA	CFLAR	ENSG00000003402.21	transcript	ENST00000309955.8	protein_coding		2116		chr2	TogoVar
CFLAR_chr2_201111164_201181687	201127583	T T	TTATTCGG others(6): Show TTATTCGGACCCCA	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0023 a0001c0005t0023	a0001c0005t0023g0194 a0001c0005t0023g0194	1	232	0.0043	13	c.-13 others(32): Show c.-137-2145_-137-2133dupTATTCGGACCCCA	CFLAR	ENSG00000003402.21	transcript	ENST00000309955.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
CGAS_chr6_73418711_73457297	73449508	C C	CACACACA others(6): Show CACACACACACACA	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0066 a0001c0002t0013g0066	1	356	0.0028	13	c.657 others(30): Show c.657+2016_657+2017insTGTGTGTGTGTGT	CGAS	ENSG00000164430.17	transcript	ENST00000370315.4	protein_coding	1/4			chr6	TogoVar
CGAS_chr6_73418711_73457297	73453568	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0134 a0002c0001t0001g0134	1	29	0.0345	13	c.-13 others(24): Show c.-1388_-1387insAAAAAAAAAAAAA	CGAS	ENSG00000164430.17	transcript	ENST00000370315.4	protein_coding		1272		chr6	TogoVar
CGB7_chr19_49049274_49062749	49060036	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0006 a0003c0003t0002g0006	1	74	0.0135	13	c.-39 others(24): Show c.-3924_-3923insTTTTTTTTTTTTT	CGB7	ENSG00000196337.14	transcript	ENST00000684222.1	protein_coding		2288		chr19	TogoVar
CGGBP1_chr3_88046950_88064005	88050344	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp2 HG03130.hp1 NA18967.hp1 others(1): Show HG00673.hp2 HG03130.hp1 NA18967.hp1 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0030 a0001c0001t0001 a0001c0001t0030	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0030g0040 a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0030g0040	4	95	0.0421	13	c.51 others(24): Show c.5128_*5129insAAAAAAAAAAAAA	CGGBP1	ENSG00000163320.12	transcript	ENST00000482016.6	protein_coding		1605		chr3	TogoVar
CGNL1_chr15_57371505_57555717	57383292	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02559.hp1 HG02723.hp1 others(8): Show HG02055.hp2 HG02559.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp2 HG02922.hp2 HG03139.hp2 NA18522.hp1 NA18941.hp2 NA19043.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0008 a0009 a0014 a0018 a0020 a0021 a0022	a0001c0001 a0002c0002 a0003c0003 others(7): Show a0001c0001 a0002c0002 a0003c0003 a0008c0010 a0009c0014 a0014c0016 a0018c0021 a0020c0030 a0021c0035 a0022c0029	a0001c0001t0001 a0002c0002t0003 a0002c0002t0007 others(8): Show a0001c0001t0001 a0002c0002t0003 a0002c0002t0007 a0003c0003t0004 a0008c0010t0005 a0009c0014t0006 a0014c0016t0001 a0018c0021t0008 a0020c0030t0005 a0021c0035t0012 a0022c0029t0009	a0001c0001t0001g0127 a0002c0002t0003g0265 a0002c0002t0007g0006 others(8): Show a0001c0001t0001g0127 a0002c0002t0003g0265 a0002c0002t0007g0006 a0003c0003t0004g0290 a0008c0010t0005g0048 a0009c0014t0006g0292 a0014c0016t0001g0008 a0018c0021t0008g0007 a0020c0030t0005g0293 a0021c0035t0012g0284 a0022c0029t0009g0289	11	239	0.0460	13	c.-16 others(30): Show c.-16+6726_-16+6738dupTTTTTTTTTTTTT	CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
CGNL1_chr15_57371505_57555717	57394101	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0160 a0001c0001t0019g0160	1	182	0.0055	13	c.-16 others(32): Show c.-16+17537_-16+17538insTTTTTTTTTTTTT	CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
CGNL1_chr15_57371505_57555717	57405772	C C	CTCCTTTC others(6): Show CTCCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0034 a0001c0001t0002g0034	1	195	0.0051	13	c.-16 others(32): Show c.-16+29207_-16+29208insCTTTCTTTCTTTC	CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
CGNL1_chr15_57371505_57555717	57442182	G G	GAAAAAAA others(6): Show GAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0029 a0002c0002t0029	a0002c0002t0029g0285 a0002c0002t0029g0285	1	17	0.0588	13	c.169 others(30): Show c.1698-182_1698-170dupAAAAAAAAAAAAA	CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
CGN_chr1_151506387_151543692	151527950	A A	ATATATAT others(6): Show ATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 NA19074.hp1 HG00438.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0073 a0001c0001t0001g0003 a0001c0001t0001g0073	2	150	0.0133	13	c.189 others(30): Show c.1896+844_1896+845insATATATATTTTTT	CGN	ENSG00000143375.15	transcript	ENST00000271636.12	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
CGREF1_chr2_27095594_27124128	27099978	T T	TGGCAGCT others(6): Show TGGCAGCTTCTGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG01074.hp2 HG01106.hp2 others(20): Show HG00639.hp1 HG01074.hp2 HG01106.hp2 HG01167.hp2 HG01169.hp1 HG01884.hp1 HG02257.hp2 HG02486.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02809.hp1 HG02809.hp2 HG03098.hp1 HG03195.hp1 HG03225.hp2 HG03453.hp1 HG03486.hp2 HG06807.hp1 NA18522.hp2 NA19240.hp2 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0011 a0001c0002 a0001c0011	a0001c0002t0001 a0001c0002t0002 a0001c0002t0008 others(1): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0008 a0001c0011t0002	a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0122 others(17): Show a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0122 a0001c0002t0001g0123 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0130 a0001c0002t0001g0131 a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0001g0290 a0001c0002t0002g0059 a0001c0002t0002g0061 a0001c0002t0002g0062 a0001c0002t0002g0063 a0001c0002t0008g0015 a0001c0011t0002g0117	23	349	0.0659	13	c.12 others(24): Show c.1295_*1296insGACAGAAGCTGCC	CGREF1	ENSG00000138028.17	transcript	ENST00000402394.6	protein_coding		615		chr2	TogoVar
CGREF1_chr2_27095594_27124128	27099978	T T	TGTCAGCT others(6): Show TGTCAGCTTCTGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0129 a0001c0002t0001g0129	1	327	0.0031	13	c.12 others(24): Show c.1295_*1296insGACAGAAGCTGAC	CGREF1	ENSG00000138028.17	transcript	ENST00000402394.6	protein_coding		615		chr2	TogoVar
CGREF1_chr2_27095594_27124128	27116871	T T	TCTCTCTC others(6): Show TCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0267 a0001c0001t0001g0267	1	157	0.0064	13	c.-12 others(30): Show c.-12+1974_-12+1975insGAGAGAGAGAGAG	CGREF1	ENSG00000138028.17	transcript	ENST00000402394.6	protein_coding	1/5			chr2	TogoVar
CGREF1_chr2_27095594_27124128	27116923	C C	CTCTCTCT others(6): Show CTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0001 a0001c0002t0002g0001	1	195	0.0051	13	c.-12 others(30): Show c.-12+1922_-12+1923insAGAGAGAGAGAGA	CGREF1	ENSG00000138028.17	transcript	ENST00000402394.6	protein_coding	1/5			chr2	TogoVar
CGREF1_chr2_27095594_27124128	27116924	T T	TCTCTCTC others(6): Show TCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0241	1	313	0.0032	13	c.-12 others(30): Show c.-12+1921_-12+1922insGAGAGAGAGAGAG	CGREF1	ENSG00000138028.17	transcript	ENST00000402394.6	protein_coding	1/5			chr2	TogoVar
CHAF1A_chr19_4397640_4448397	4408461	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01074.hp1 HG01943.hp2 others(11): Show HG00733.hp1 HG01074.hp1 HG01943.hp2 HG02257.hp1 HG02559.hp1 HG02698.hp2 HG02896.hp2 HG02897.hp1 NA18941.hp2 NA18971.hp1 NA18980.hp2 NA18998.hp1 NA19056.hp2 NA19076.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0007 a0005c0006 a0001c0001 a0001c0007 a0005c0006	a0001c0001t0001 a0001c0007t0001 a0005c0006t0002 a0001c0001t0001 a0001c0007t0001 a0005c0006t0002	a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 others(11): Show a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0263 a0001c0001t0001g0272 a0001c0007t0001g0204 a0005c0006t0002g0358 a0005c0006t0002g0359	14	57	0.2456	13	c.104 others(28): Show c.104-424_104-412dupTTTTTTTTTTTTT	CHAF1A	ENSG00000167670.16	transcript	ENST00000301280.10	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHAF1A_chr19_4397640_4448397	4411644	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02896.hp2 HG02897.hp1 others(1): Show HG01167.hp2 HG02896.hp2 HG02897.hp1 HG03225.hp1	a0005 a0009 a0005 a0009	a0005c0006 a0009c0019 a0005c0006 a0009c0019	a0005c0006t0002 a0009c0019t0002 a0005c0006t0002 a0009c0019t0002	a0005c0006t0002g0358 a0005c0006t0002g0359 a0005c0006t0002g0360 others(1): Show a0005c0006t0002g0358 a0005c0006t0002g0359 a0005c0006t0002g0360 a0009c0019t0002g0362	4	14	0.2857	13	c.960 others(30): Show c.960+1894_960+1906dupTTTTTTTTTTTTT	CHAF1A	ENSG00000167670.16	transcript	ENST00000301280.10	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHAF1A_chr19_4397640_4448397	4427136	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00597.hp2 HG00673.hp1 others(5): Show HG00099.hp1 HG00597.hp2 HG00673.hp1 HG00673.hp2 NA18945.hp1 NA18980.hp2 NA18989.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0150 a0001c0001t0001g0187 others(5): Show a0001c0001t0001g0145 a0001c0001t0001g0150 a0001c0001t0001g0187 a0001c0001t0001g0199 a0001c0001t0001g0210 a0001c0001t0001g0218 a0001c0001t0001g0249 a0001c0001t0001g0270	8	14	0.5714	13	c.137 others(32): Show c.1378-1509_1378-1497dupTTTTTTTTTTTTT	CHAF1A	ENSG00000167670.16	transcript	ENST00000301280.10	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHCHD3_chr7_132779870_133087090	132781412	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG03579.hp1 NA19043.hp1 HG02622.hp1 HG03579.hp1 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0210 a0001c0001t0001g0211 a0002c0002t0001g0248 a0001c0001t0001g0210 a0001c0001t0001g0211 a0002c0002t0001g0248	3	10	0.3000	13	c.42 others(24): Show c.4224_*4225insTTTTTTTTTTTTT	CHCHD3	ENSG00000106554.13	transcript	ENST00000262570.10	protein_coding		3457		chr7	TogoVar
CHCHD3_chr7_132779870_133087090	132919100	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	83	0.0120	13	c.370 others(32): Show c.370-33368_370-33356dupAAAAAAAAAAAAA	CHCHD3	ENSG00000106554.13	transcript	ENST00000262570.10	protein_coding	4/7			chr7	TogoVar
CHCHD3_chr7_132779870_133087090	132965086	T T	TGTGTGTG others(6): Show TGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	308	0.0032	13	c.369 others(32): Show c.369+10082_369+10083insCACACACACACAC	CHCHD3	ENSG00000106554.13	transcript	ENST00000262570.10	protein_coding	4/7			chr7	TogoVar
CHCHD6_chr3_126699240_126965420	126824560	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0071 a0002c0002t0001g0071	1	5	0.2000	13	c.412 others(32): Show c.412-28078_412-28066dupAAAAAAAAAAAAA	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHCHD6_chr3_126699240_126965420	126863107	T T	TCCCCCCA others(6): Show TCCCCCCACTGTCA	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0056 a0002c0002t0001g0056	1	151	0.0066	13	c.495 others(32): Show c.495+10379_495+10380insCCCCACTGTCACC	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHCHD6_chr3_126699240_126965420	126863109	C C	CCCCACTG others(6): Show CCCCACTGTCACCA	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA19030.hp1 NA18998.hp1 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0195 a0002c0002t0001g0063 a0001c0001t0001g0195 a0002c0002t0001g0063	2	214	0.0093	13	c.495 others(32): Show c.495+10379_495+10380insCCCACTGTCACCA	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	5/7			chr3	TogoVar
CHD1L_chr1_147237684_147300762	147298999	G G	GGTTTTTT others(6): Show GGTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0011 a0011	a0011c0025 a0011c0025	a0011c0025t0001 a0011c0025t0001	a0011c0025t0001g0193 a0011c0025t0001g0193	1	409	0.0024	13	c.34 others(24): Show c.3490_*3491insGTTTTTTTTTTTT	CHD1L	ENSG00000131778.20	transcript	ENST00000369258.8	protein_coding		3238		chr1	TogoVar
CHD1L_chr1_147237684_147300762	147299000	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp1 HG02083.hp2 NA19055.hp2 HG01361.hp1 HG02083.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0003 a0001c0010t0003 a0001c0001t0003 a0001c0010t0003	a0001c0001t0003g0229 a0001c0010t0003g0008 a0001c0001t0003g0229 a0001c0010t0003g0008	3	28	0.1071	13	c.34 others(24): Show c.3491_*3492insTTTTTTTTTTTTT	CHD1L	ENSG00000131778.20	transcript	ENST00000369258.8	protein_coding		3239		chr1	TogoVar
CHD1_chr5_98848985_98934007	98883862	T T	TATATATA others(6): Show TATATATATATATA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0246	1	317	0.0032	13	c.256 others(30): Show c.2569-626_2569-625insTATATATATATAT	CHD1	ENSG00000153922.12	transcript	ENST00000614616.5	protein_coding	18/35			chr5	TogoVar
CHD1_chr5_98848985_98934007	98911144	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01943.hp1 HG02004.hp1 HG01081.hp1 HG01943.hp1 HG02004.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0010 a0001c0001 a0003c0010	a0001c0001t0001 a0003c0010t0001 a0001c0001t0001 a0003c0010t0001	a0001c0001t0001g0242 a0001c0001t0001g0244 a0003c0010t0001g0251 a0001c0001t0001g0242 a0001c0001t0001g0244 a0003c0010t0001g0251	3	286	0.0105	13	c.54- others(28): Show c.54-6047_54-6046insATATATATATATA	CHD1	ENSG00000153922.12	transcript	ENST00000614616.5	protein_coding	2/35			chr5	TogoVar
CHD1_chr5_98848985_98934007	98911146	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG02630.hp2 HG01257.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0248 a0001c0001t0001g0233 a0001c0001t0001g0248	2	120	0.0167	13	c.54- others(28): Show c.54-6049_54-6048insATATATATATATA	CHD1	ENSG00000153922.12	transcript	ENST00000614616.5	protein_coding	2/35			chr5	TogoVar
CHD1_chr5_98848985_98934007	98917299	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02074.hp2 HG04228.hp1 others(2): Show HG01884.hp1 HG02074.hp2 HG04228.hp1 NA19057.hp2 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0090 a0001c0001t0001g0095 a0001c0001t0001g0280 others(2): Show a0001c0001t0001g0090 a0001c0001t0001g0095 a0001c0001t0001g0280 a0001c0001t0003g0305 a0001c0001t0003g0306	5	105	0.0476	13	c.53+ others(28): Show c.53+9034_53+9035insTTTTTTTTTTTTT	CHD1	ENSG00000153922.12	transcript	ENST00000614616.5	protein_coding	2/35			chr5	TogoVar
CHD1_chr5_98848985_98934007	98917299	C C	CCAAAAAA others(6): Show CCAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG03688.hp1 HG00323.hp2 HG03688.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0194 a0001c0003t0009g0225 a0001c0003t0009g0194 a0001c0003t0009g0225	2	102	0.0196	13	c.53+ others(28): Show c.53+9034_53+9035insTTTTTTTTTTTTG	CHD1	ENSG00000153922.12	transcript	ENST00000614616.5	protein_coding	2/35			chr5	TogoVar
CHD2_chr15_92895324_93032996	93016779	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG04115.hp2 NA18522.hp1 others(1): Show HG03453.hp2 HG04115.hp2 NA18522.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0200 a0001c0002t0002g0045 a0001c0002t0002g0046 others(1): Show a0001c0001t0001g0200 a0001c0002t0002g0045 a0001c0002t0002g0046 a0001c0002t0002g0232	4	43	0.0930	13	c.490 others(32): Show c.4906+1873_4906+1885dupAAAAAAAAAAAAA	CHD2	ENSG00000173575.24	transcript	ENST00000394196.9	protein_coding	37/38		INFO_REALIGN_3_PRIME	chr15	TogoVar
CHD6_chr20_41397083_41623377	41419554	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01361.hp1 HG02148.hp1 others(2): Show HG01346.hp2 HG01361.hp1 HG02148.hp1 HG02735.hp2 HG04184.hp2	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0001 a0004c0006 a0006c0009 a0001c0001 a0004c0006 a0006c0009	a0001c0001t0002 a0004c0006t0002 a0006c0009t0002 a0001c0001t0002 a0004c0006t0002 a0006c0009t0002	a0001c0001t0002g0243 a0001c0001t0002g0260 a0004c0006t0002g0194 others(2): Show a0001c0001t0002g0243 a0001c0001t0002g0260 a0004c0006t0002g0194 a0006c0009t0002g0201 a0006c0009t0002g0209	5	31	0.1613	13	c.612 others(30): Show c.6127+941_6127+953dupTTTTTTTTTTTTT	CHD6	ENSG00000124177.16	transcript	ENST00000373233.8	protein_coding	31/36			chr20	TogoVar
CHD6_chr20_41397083_41623377	41431776	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02965.hp1 others(2): Show HG02895.hp1 HG02897.hp1 HG02965.hp1 NA19030.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0138 a0001c0001t0001g0145 a0001c0001t0001g0146 others(2): Show a0001c0001t0001g0138 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0009g0073	5	215	0.0233	13	c.406 others(32): Show c.4068+5485_4068+5497dupAAAAAAAAAAAAA	CHD6	ENSG00000124177.16	transcript	ENST00000373233.8	protein_coding	27/36			chr20	TogoVar
CHD6_chr20_41397083_41623377	41432160	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0014 a0014	a0014c0027 a0014c0027	a0014c0027t0001 a0014c0027t0001	a0014c0027t0001g0317 a0014c0027t0001g0317	1	197	0.0051	13	c.406 others(32): Show c.4068+5101_4068+5113dupTTTTTTTTTTTTT	CHD6	ENSG00000124177.16	transcript	ENST00000373233.8	protein_coding	27/36			chr20	TogoVar
CHD6_chr20_41397083_41623377	41504077	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01361.hp1 HG02258.hp2 others(5): Show HG00673.hp1 HG01361.hp1 HG02258.hp2 HG02486.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG06807.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0006c0009	a0001c0001t0002 a0001c0002t0001 a0001c0003t0001 others(1): Show a0001c0001t0002 a0001c0002t0001 a0001c0003t0001 a0006c0009t0002	a0001c0001t0002g0244 a0001c0002t0001g0053 a0001c0002t0001g0054 others(5): Show a0001c0001t0002g0244 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0152 a0001c0002t0001g0177 a0001c0003t0001g0289 a0001c0003t0001g0318 a0006c0009t0002g0209	8	128	0.0625	13	c.853 others(30): Show c.853-4733_853-4721dupTTTTTTTTTTTTT	CHD6	ENSG00000124177.16	transcript	ENST00000373233.8	protein_coding	5/36			chr20	TogoVar
CHD6_chr20_41397083_41623377	41535546	A A	ATGATGGA others(6): Show ATGATGGAACTTGG	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0236 a0001c0001t0002g0236	1	322	0.0031	13	c.34- others(28): Show c.34-1989_34-1977dupCCAAGTTCCATCA	CHD6	ENSG00000124177.16	transcript	ENST00000373233.8	protein_coding	2/36			chr20	TogoVar
CHD6_chr20_41397083_41623377	41579437	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02486.hp1 HG02970.hp1 others(7): Show HG01361.hp1 HG02486.hp1 HG02970.hp1 HG03098.hp1 HG03516.hp1 NA18985.hp2 NA18990.hp1 NA18993.hp1 NA19058.hp1 NA19084.hp1	a0001 a0006 a0013 a0001 a0006 a0013	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0006c0009 a0013c0021	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0003t0001 a0006c0009t0002 a0013c0021t0001	a0001c0001t0001g0223 a0001c0001t0002g0229 a0001c0001t0002g0230 others(7): Show a0001c0001t0001g0223 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0002t0001g0052 a0001c0002t0001g0170 a0001c0002t0001g0187 a0001c0002t0001g0268 a0001c0003t0001g0318 a0006c0009t0002g0209 a0013c0021t0001g0249	10	142	0.0704	13	c.-23 others(32): Show c.-23-28090_-23-28078dupTTTTTTTTTTTTT	CHD6	ENSG00000124177.16	transcript	ENST00000373233.8	protein_coding	1/36			chr20	TogoVar
CHD8_chr14_21380199_21461123	21380296	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG02145.hp1 HG02615.hp1 others(2): Show HG01167.hp2 HG02145.hp1 HG02615.hp1 HG03654.hp2 NA19005.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0001 a0001c0001t0003 a0002c0002t0001	a0001c0001t0003g0218 a0001c0001t0003g0239 a0002c0002t0001g0105 others(2): Show a0001c0001t0003g0218 a0001c0001t0003g0239 a0002c0002t0001g0105 a0002c0002t0001g0107 a0002c0002t0001g0118	5	76	0.0658	13	c.53 others(24): Show c.5304_*5316dupAAAAAAAAAAAAA	CHD8	ENSG00000100888.15	transcript	ENST00000646647.2	protein_coding		4902		chr14	TogoVar
CHEK2_chr22_28682743_28746820	28698228	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	103	0.0097	13	c.100 others(32): Show c.1009-1254_1009-1242dupTTTTTTTTTTTTT	CHEK2	ENSG00000183765.24	transcript	ENST00000404276.6	protein_coding	9/14			chr22	TogoVar
CHEK2_chr22_28682743_28746820	28729540	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG04184.hp2 HG02257.hp1 HG04184.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0007 a0001c0002t0001g0343 a0001c0002t0001g0007 a0001c0002t0001g0343	2	102	0.0196	13	c.320 others(30): Show c.320-4186_320-4174dupTTTTTTTTTTTTT	CHEK2	ENSG00000183765.24	transcript	ENST00000404276.6	protein_coding	2/14			chr22	TogoVar
CHEK2_chr22_28682743_28746820	28730240	A A	AGAGGAGG others(6): Show AGAGGAGGGGAGGG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	382	0.0026	13	c.319 others(30): Show c.319+4162_319+4163insCCCTCCCCTCCTC	CHEK2	ENSG00000183765.24	transcript	ENST00000404276.6	protein_coding	2/14			chr22	TogoVar
CHGA_chr14_92918150_92940285	92920654	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18943.hp1 NA18977.hp1 NA18978.hp2 others(2): Show NA18943.hp1 NA18977.hp1 NA18978.hp2 NA18997.hp2 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	5	46	0.1087	13	c.-27 others(24): Show c.-2706_-2705insAAAAAAAAAAAAA	CHGA	ENSG00000100604.13	transcript	ENST00000216492.10	protein_coding		2495		chr14	TogoVar
CHGB_chr20_5906510_5930353	5918163	A A	AAACAAAA others(6): Show AAACAAAACAAAAC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0004 a0007c0007t0004	a0007c0007t0004g0141 a0007c0007t0004g0141	1	415	0.0024	13	c.190 others(30): Show c.190+1246_190+1247insCAAAACAAAACAA	CHGB	ENSG00000089199.10	transcript	ENST00000378961.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr20	TogoVar
CHI3L2_chr1_111222713_111248440	111229681	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG01081.hp1 others(30): Show HG00140.hp1 HG00280.hp1 HG01081.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01993.hp1 HG02004.hp2 HG02293.hp2 HG02300.hp1 HG03041.hp2 HG03540.hp2 NA18747.hp2 NA18944.hp1 NA18951.hp1 NA18960.hp1 NA18965.hp2 NA18968.hp1 NA18970.hp1 NA18984.hp2 NA18986.hp2 NA18987.hp2 NA18993.hp2 NA19004.hp2 NA19012.hp2 NA19059.hp2 NA19063.hp2 NA19064.hp1 NA19068.hp1 NA19076.hp2 NA19084.hp2 NA19086.hp2 NA20129.hp2	a0002 a0004 a0002 a0004	a0002c0003 a0002c0010 a0004c0006 a0002c0003 a0002c0010 a0004c0006	a0002c0003t0001 a0002c0010t0001 a0004c0006t0005 a0002c0003t0001 a0002c0010t0001 a0004c0006t0005	a0002c0003t0001g0004 a0002c0003t0001g0038 a0002c0003t0001g0039 others(8): Show a0002c0003t0001g0004 a0002c0003t0001g0038 a0002c0003t0001g0039 a0002c0003t0001g0041 a0002c0003t0001g0115 a0002c0003t0001g0117 a0002c0003t0001g0118 a0002c0003t0001g0119 a0002c0010t0001g0004 a0002c0010t0001g0116 a0004c0006t0005g0025	33	136	0.2426	13	c.41- others(26): Show c.41-159_41-147dupAAAAAAAAAAAAA	CHI3L2	ENSG00000064886.14	transcript	ENST00000369748.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CHKA_chr11_68047859_68126388	68060032	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp2 NA18951.hp1 NA18980.hp1 others(7): Show HG00597.hp2 NA18951.hp1 NA18980.hp1 NA18981.hp2 NA18987.hp1 NA18989.hp1 NA19067.hp2 NA19080.hp2 NA19090.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005	a0001c0001t0002g0078 a0001c0001t0002g0081 a0001c0001t0003g0014 others(7): Show a0001c0001t0002g0078 a0001c0001t0002g0081 a0001c0001t0003g0014 a0001c0001t0003g0018 a0001c0001t0003g0021 a0001c0001t0003g0025 a0001c0001t0003g0034 a0001c0001t0003g0037 a0001c0001t0003g0040 a0001c0001t0005g0056	10	144	0.0694	13	c.131 others(32): Show c.1314+1920_1314+1921insAAAAAAAAAAAAA	CHKA	ENSG00000110721.12	transcript	ENST00000265689.9	protein_coding	11/11			chr11	TogoVar

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