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
TPO_chr2_1408463_1548673	1533846	CCTAGCTT others(109): Show CCTAGCTTTGTGAAACCTCCCCAAATCCCCCCCACTCTGTGTGCAACCTC CCCAGATCTCCTTTCTGTGCAACCTCCATAAATCCAACCAAATGTATGCA ACCTCCTCAAATCCCCA	C C	intron_variant intron_variant	MODIFIER	HG02040.hp1 NA18962.hp1 HG02040.hp1 NA18962.hp1	a0002 a0007 a0002 a0007	a0002c0002 a0007c0013 a0002c0002 a0007c0013	a0002c0002t0009 a0007c0013t0012 a0002c0002t0009 a0007c0013t0012	a0002c0002t0009g0062 a0007c0013t0012g0066 a0002c0002t0009g0062 a0007c0013t0012g0066	2	127	0.0157	-116	c.261 others(19): Show c.2619-6746_2619-6631del	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TRAPPC9_chr8_139722725_140462744	139757155	CGCAGGAG others(109): Show CGCAGGAGGAGCCAGGGTTTAGGGATGAGGACAGCAGGGTGCAGGAGGAG CCAGGGTTGGGGATGAGGACAGCATGTCGCAGGAGGAGCCAGGGATGGGG TATAAGGACAGCAGGTT	C C	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02723.hp2 HG02809.hp1 others(5): Show HG01255.hp1 HG02723.hp2 HG02809.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG03225.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0009 a0001c0020 a0004c0016	a0001c0001t0001 a0001c0002t0007 a0001c0003t0001 others(4): Show a0001c0001t0001 a0001c0002t0007 a0001c0003t0001 a0001c0004t0010 a0001c0009t0005 a0001c0020t0007 a0004c0016t0026	a0001c0001t0001g0067 a0001c0002t0007g0022 a0001c0003t0001g0052 others(5): Show a0001c0001t0001g0067 a0001c0002t0007g0022 a0001c0003t0001g0052 a0001c0004t0010g0089 a0001c0004t0010g0090 a0001c0009t0005g0010 a0001c0020t0007g0030 a0004c0016t0026g0069	8	96	0.0833	-116	c.305 others(21): Show c.3056-25069_3056-24954del	TRAPPC9	ENSG00000167632.18	transcript	ENST00000438773.4	protein_coding	21/22			chr8	TogoVar
TRERF1_chr6_42219931_42456926	42262497	GAGAGAGA others(109): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGACAGACAGACGGAA	G G	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0152 a0001c0001t0016g0152	1	177	0.0056	-116	c.188 others(17): Show c.1884+707_1884+822del	TRERF1	ENSG00000124496.13	transcript	ENST00000695948.1	protein_coding	8/17			chr6	TogoVar
TRIQK_chr8_92878534_92971144	92949682	AAGAAAGA others(109): Show AAGAAAGAAAGAAAGAAAAGAGAAAGGAAGGGAGGGAGGGAGGGAGGAAG GAAGGAAGAAAGGAAGGAAAGGGAAGGAAAGAAAGAGAAGGAAAGAAAGA AAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01934.hp2 HG02083.hp2 others(3): Show HG01891.hp2 HG01934.hp2 HG02083.hp2 HG02717.hp1 HG02886.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0001 a0001c0001t0005 a0001c0001t0006	a0001c0001t0001g0086 a0001c0001t0001g0103 a0001c0001t0001g0108 others(3): Show a0001c0001t0001g0086 a0001c0001t0001g0103 a0001c0001t0001g0108 a0001c0001t0005g0066 a0001c0001t0006g0030 a0001c0001t0006g0031	6	271	0.0221	-116	c.-22 others(17): Show c.-22+4608_-22+4723del	TRIQK	ENSG00000205133.12	transcript	ENST00000521988.6	protein_coding	2/4			chr8	TogoVar
TSNARE1_chr8_142207080_142408182	142221681	CCACTCAC others(109): Show CCACTCACTCACTCATCCACTCACTCATCCACTCACTCACTCATTCACTC ACTCATTCACTCACTCACTCACTCATTCACTCACTCACTCACTCATTCAC TCACTCATCCACTCATT	C C	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0211 a0002c0002t0002g0211	1	152	0.0066	-116	c.11 others(17): Show c.11+7676_*11+7791del	TSNARE1	ENSG00000171045.16	transcript	ENST00000524325.6	protein_coding	13/13			chr8	TogoVar
TSPAN32_chr11_2297013_2323204	2300104	TTGTGAGG others(109): Show TTGTGAGGGTGGGCAGGGGTGTGTGGGGTGGGCAGGGGTGTGTGGGGTGG GCAGGGGCATGTGGGGTGGGCAGGGGTGTGTGAGGTTGGGCAGGGGCGTG TGGGGTGGGCAGGGGTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	1	382	0.0026	-116	c.-20 others(11): Show c.-2045_-1930del	TSPAN32	ENSG00000064201.16	transcript	ENST00000182290.9	protein_coding		1908		chr11	TogoVar
UBOX5_chr20_3102573_3164865	3125602	CGGCCGCC others(109): Show CGGCCGCCCATCGTCTGGGAGGTGAGGAGTGCCTCTGCCCGGCCACCCCG TCTGAGAAGTGAGGAGCGCCTCTGCCCGGCAGCCGCCCCGTCTGGGAAGT GAGGAGTGCCTCTGCCT	C C	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0183 a0001c0001t0037g0183	1	382	0.0026	-116	c.-41 others(17): Show c.-41-2312_-41-2197del	UBOX5	ENSG00000185019.17	transcript	ENST00000217173.7	protein_coding	1/4			chr20	TogoVar
VCX3B_chrX_8459830_8471510	8467221	AGGGAGGA others(109): Show AGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGT GGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGGG GGAAGAGGAGGTGTGTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00558.hp2 HG00733.hp1 others(10): Show HG00140.hp1 HG00558.hp2 HG00733.hp1 HG01081.hp1 HG01261.hp1 HG01346.hp2 HG01928.hp1 HG01943.hp1 HG01978.hp1 HG02004.hp2 HG02922.hp2 NA18942.hp1 NA20129.hp2	a0001 a0008 a0019 others(3): Show a0001 a0008 a0019 a0022 a0023 a0025	a0001c0001 a0008c0007 a0019c0019 others(3): Show a0001c0001 a0008c0007 a0019c0019 a0022c0037 a0023c0033 a0025c0043	a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 a0008c0007t0004 a0019c0019t0010 a0022c0037t0004 a0023c0033t0004 a0025c0043t0004	a0001c0001t0001g0003 a0001c0001t0004g0002 a0001c0001t0010g0018 others(5): Show a0001c0001t0001g0003 a0001c0001t0004g0002 a0001c0001t0010g0018 a0008c0007t0004g0002 a0019c0019t0010g0018 a0022c0037t0004g0002 a0023c0033t0004g0002 a0025c0043t0004g0002	13	264	0.0492	-116	c.83 others(9): Show c.839_*954del	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		712		chrX	TogoVar
VIPR2_chr7_159023175_159149867	159104511	ACCTCCTC others(109): Show ACCTCCTCCTGGCAGCACCCTCCCTCCTCCCAGCAATGCCCTCCCTCCTC CCAGCCAGGCCCTCACCACCGATGGTGACCGGGTACCCCACCTGCTCCAG TTCCTGGCAGCACTCTC	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02572.hp2 NA18906.hp2 HG01243.hp1 HG02572.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0004 a0001c0001t0041 a0001c0005t0059 a0001c0001t0004 a0001c0001t0041 a0001c0005t0059	a0001c0001t0004g0087 a0001c0001t0041g0088 a0001c0005t0059g0326 a0001c0001t0004g0087 a0001c0001t0041g0088 a0001c0005t0059g0326	3	328	0.0091	-116	c.260 others(15): Show c.260-773_260-658del	VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding	3/12			chr7	TogoVar
YWHAE_chr17_1339275_1405222	1403469	GGGCAGAG others(109): Show GGGCAGAGACGCTCCTCACTTCCTAGATGGGATGGCGGCCGGGCAGAGAC GCTCCTCATTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCACATCC CAGACGATGGGCGGCCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp1 HG03927.hp1 NA20752.hp1 others(1): Show HG03239.hp1 HG03927.hp1 NA20752.hp1 NA20752.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0012 a0001c0002t0001g0013 a0001c0002t0001g0014 others(1): Show a0001c0002t0001g0012 a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0015	4	372	0.0108	-116	c.-34 others(11): Show c.-3475_-3360del	YWHAE	ENSG00000108953.17	transcript	ENST00000264335.13	protein_coding		3248		chr17	TogoVar
ZCWPW2_chr3_28343721_28531358	28380933	GGTATATA others(109): Show GGTATATATATATATATATATATATATATATATATATATTTGGTATATAT ATATATATATATATTTGGTATATATATATATATATATATTTGGTATATAT ATATATATATATTTGGT	G G	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0015 a0002c0002t0015	a0002c0002t0015g0173 a0002c0002t0015g0173	1	252	0.0040	-116	c.-13 others(19): Show c.-133-9533_-133-9418del	ZCWPW2	ENSG00000206559.8	transcript	ENST00000383768.7	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
ZIM3_chr19_57129096_57150202	57137938	GGAAGGAA others(109): Show GGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAAGAAGG AAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAAGAA GGAAGGAAGGAAGGAAA	G G	intron_variant intron_variant	MODIFIER	HG02735.hp2 NA19062.hp1 HG02735.hp2 NA19062.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0002 a0004c0004t0001 a0004c0004t0002	a0004c0004t0001g0161 a0004c0004t0002g0068 a0004c0004t0001g0161 a0004c0004t0002g0068	2	416	0.0048	-116	c.142 others(15): Show c.142+418_142+533del	ZIM3	ENSG00000141946.1	transcript	ENST00000269834.1	protein_coding	3/4			chr19	TogoVar
ZSWIM5_chr1_45011399_45211605	45115657	TCGGCCAG others(109): Show TCGGCCAGGCAGAGGGGCTCCTCACATCCCAGACGATGGGCGGCCAGGCA GAGACGCTCGTCACTTCCCAGACGGGATGGCGGCTGGGAAGAGGCGCTCC TCACTTCCCAGGCTGGG	T T	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0080 a0001c0005t0001g0080	1	224	0.0045	-116	c.596 others(19): Show c.596-27536_596-27421del	ZSWIM5	ENSG00000162415.7	transcript	ENST00000359600.6	protein_coding	1/13			chr1	TogoVar
ABR_chr17_998519_1184981	1118652	TCCTCCCC others(108): Show TCCTCCCCAGCGTTATCCCTGAGCCTGAGTTCCCCCCAGCGTTATCCCTG AGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTTCCTCCCAGCGT TATCCCTGAGCCTGAG	T T	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0067 a0001c0001t0067	a0001c0001t0067g0159 a0001c0001t0067g0159	1	336	0.0030	-115	c.246 others(17): Show c.246+6416_246+6530del	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
ACYP2_chr2_53966113_54310300	54002577	TCAACTGA others(108): Show TCAACTGATTCACCTGCCTCGGCCTCCCAAAGTGCTAGGATTATAGGCAT GAGCTACCATGCCTGGCCATTTTATTTTATTTTATTTTTTTTGAGACGGA GTTTCGCTCTTGCTGC	T T	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03471.hp1 HG02572.hp1 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0107 a0001c0002t0002g0108 a0001c0002t0002g0107 a0001c0002t0002g0108	2	270	0.0074	-115	c.62+ others(17): Show c.62+28769_62+28883del	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ADAMTS2_chr5_179105853_179350461	179277860	CCCCCCTG others(108): Show CCCCCCTGAGACCAAAGGCTGACCCCCCTGCGAGACCAAAGGCTGACCCC CCCCCGAGACCAAAGGCTGACCCCCCCCGAGACCAACGGCTGACCCCCTC CAAGACCAAAGGCTGA	C C	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01081.hp2 HG01106.hp2 others(22): Show HG01074.hp1 HG01081.hp2 HG01106.hp2 HG01346.hp1 HG01975.hp2 HG01978.hp2 HG02040.hp1 HG02040.hp2 HG02293.hp2 HG02559.hp2 HG02683.hp2 HG03491.hp2 HG03492.hp1 HG03540.hp1 NA18522.hp1 NA18947.hp2 NA18952.hp1 NA18954.hp2 NA18957.hp1 NA18966.hp1 NA18971.hp1 NA18977.hp1 NA19011.hp2 NA19066.hp2 NA20752.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0012	a0001c0001 a0001c0004 a0001c0022 others(19): Show a0001c0001 a0001c0004 a0001c0022 a0001c0024 a0001c0035 a0001c0075 a0002c0003 a0002c0006 a0002c0010 a0002c0016 a0002c0095 a0002c0100 a0003c0008 a0003c0023 a0003c0059 a0004c0015 a0004c0047 a0005c0011 a0005c0044 a0006c0090 a0007c0021 a0012c0037	a0001c0001t0001 a0001c0004t0001 a0001c0004t0002 others(20): Show a0001c0001t0001 a0001c0004t0001 a0001c0004t0002 a0001c0022t0002 a0001c0024t0004 a0001c0035t0025 a0001c0075t0020 a0002c0003t0001 a0002c0006t0001 a0002c0010t0003 a0002c0016t0002 a0002c0095t0001 a0002c0100t0002 a0003c0008t0001 a0003c0023t0002 a0003c0059t0001 a0004c0015t0003 a0004c0047t0010 a0005c0011t0003 a0005c0044t0003 a0006c0090t0016 a0007c0021t0018 a0012c0037t0001	a0001c0001t0001g0011 a0001c0004t0001g0190 a0001c0004t0002g0162 others(22): Show a0001c0001t0001g0011 a0001c0004t0001g0190 a0001c0004t0002g0162 a0001c0004t0002g0163 a0001c0022t0002g0043 a0001c0024t0004g0174 a0001c0035t0025g0023 a0001c0075t0020g0073 a0002c0003t0001g0225 a0002c0006t0001g0247 a0002c0006t0001g0260 a0002c0010t0003g0257 a0002c0016t0002g0263 a0002c0095t0001g0253 a0002c0100t0002g0248 a0003c0008t0001g0166 a0003c0023t0002g0151 a0003c0059t0001g0002 a0004c0015t0003g0071 a0004c0047t0010g0160 a0005c0011t0003g0170 a0005c0044t0003g0165 a0006c0090t0016g0216 a0007c0021t0018g0116 a0012c0037t0001g0130	25	274	0.0912	-115	c.535 others(17): Show c.535-4911_535-4797del	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21			chr5	TogoVar
ARHGAP10_chr4_147727088_148077776	147784716	TATAATAT others(108): Show TATAATATATTATAAAATATATATTATAAATATATATTATAAAATGTATA TTATAAATATAATATATTATAAAATATATATTATAAATATAATATATTAT AAAATATATATTATAA	T T	intron_variant intron_variant	MODIFIER	HG02056.hp2 NA19064.hp2 HG02056.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0033 a0001c0002t0001g0028 a0001c0001t0001g0033 a0001c0002t0001g0028	2	102	0.0196	-115	c.155 others(19): Show c.155-38007_155-37893del	ARHGAP10	ENSG00000071205.12	transcript	ENST00000336498.8	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr4	TogoVar
ARHGEF1_chr19_41878184_41912452	41893721	GGGTCTGA others(108): Show GGGTCTGAGGGAGGAGGGGGCTGGGGGGCCTGGACGCCTGGGTCTGAGGG AGGAGGGGGCTGGGGGGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGGCT GGGGGCCTGGACTCCT	G G	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0069 a0001c0002t0001g0069	1	232	0.0043	-115	c.644 others(15): Show c.644+421_645-369del	ARHGEF1	ENSG00000076928.20	transcript	ENST00000354532.8	protein_coding	8/28		INFO_REALIGN_3_PRIME	chr19	TogoVar
ASB5_chr4_176208673_176274222	176219460	TATATATA others(108): Show TATATATATTTGTATGATATATAAATATATATATTTGTATGATATATAAA TATATATATTTGTATGATATATAAATATATATATGTATGATATATAAATA TGTATATATTTGTATG	T T	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	408	0.0025	-115	c.670 others(17): Show c.670+1580_670+1694del	ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	5/6			chr4	TogoVar
B3GNTL1_chr17_82937149_83056770	83003639	GTCCGCGT others(108): Show GTCCGCGTGTGGGATTCCTGAGCTCGCCCTCCCACTCTCTGCAGTCCGCG TGTGGGATTCCTGAGCCCGCCCTCCCGCCCTCCGCATGTGGGATTCCTGA GCCCGCCCTCCCGCCC	G G	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0184 a0001c0001t0010g0184	1	253	0.0040	-115	c.459 others(17): Show c.459+1361_459+1475del	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83004077	GTCCGCGT others(108): Show GTCCGCGTGTGGGATTCCTGAGCCCGCCCTCCCGCCCTCCGCGTGTGGGA TTCCTGAGCTCGCCCTCCCACTCTCCGCAGTCCGCGTGTGGGATTCCTGA GCCCGCCCTCCCGCCC	G G	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0071 a0001c0002t0006g0071	1	222	0.0045	-115	c.459 others(16): Show c.459+923_459+1037del	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83004314	GTCCGCGT others(108): Show GTCCGCGTGTGGGATTCCTGAGCTCGCCCTCCCGCCCTCCGCGTGTGGGA TTCCTGAGCTCGCCCTCCCACTCTCTGCAGTCCGCGTGTGGGATTCCTGA GCCCGCCCTCCCGCCC	G G	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01081.hp2 HG01496.hp2 others(2): Show HG01074.hp2 HG01081.hp2 HG01496.hp2 HG02135.hp2 HG02630.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0006 a0002c0005 a0001c0002 a0001c0006 a0002c0005	a0001c0002t0006 a0001c0006t0006 a0001c0006t0018 others(1): Show a0001c0002t0006 a0001c0006t0006 a0001c0006t0018 a0002c0005t0007	a0001c0002t0006g0072 a0001c0006t0006g0007 a0001c0006t0018g0017 others(1): Show a0001c0002t0006g0072 a0001c0006t0006g0007 a0001c0006t0018g0017 a0002c0005t0007g0006	5	266	0.0188	-115	c.459 others(15): Show c.459+686_459+800del	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
BRSK2_chr11_1384934_1467689	1435281	GGGGGTCT others(108): Show GGGGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGG GTGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCG GAGGAGGGGTGCCGGT	G G	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0037 a0003c0011t0037	a0003c0011t0037g0290 a0003c0011t0037g0290	1	358	0.0028	-115	c.92- others(13): Show c.92-754_92-640del	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BTBD19_chr1_44803523_44820585	44816556	ATGTGTGT others(108): Show ATGTGTGTATATATTATATATACACATAGATGTGTGTGTATATATATACA CATAGATGTGTGTGTATATTATATATACACATAGATGTGTGTGTATATTA TATATACACATAGATG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0005 a0001c0001t0016g0005	1	427	0.0023	-115	c.27 others(11): Show c.2785_*2899del	BTBD19	ENSG00000222009.9	transcript	ENST00000450269.6	protein_coding		972		chr1	TogoVar
BTBD2_chr19_1980448_2020714	2015888	AGGGAGGG others(108): Show AGGGAGGGGAAAGGAGGGGGAAGGAGGGAGGGGAGGAGAGGGAGGGGAAA GGAGGGGGAAGGAGGGAGGGGAGGAGAGGGAGGGGAAAGGAGGGGGAAGG AGGGAGGGGAGGAGAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0017 a0004c0012t0017	a0004c0012t0017g0354 a0004c0012t0017g0354	1	361	0.0028	-115	c.-30 others(9): Show c.-300_-186del	BTBD2	ENSG00000133243.10	transcript	ENST00000255608.9	protein_coding		175		chr19	TogoVar
BTBD2_chr19_1980448_2020714	2015902	AGGGGGAA others(108): Show AGGGGGAAGGAGGGAGGGGAGGAGAGGGAGGGGAAAGGAGGGGGAAGGAG GGAGGGGAGGAGAGGGAGGGGAAAGGAGGGGGAAGGAGGGAGGGGAGGAG AGGGAGGGGAAAGGAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0002 a0003c0006t0002	a0003c0006t0002g0138 a0003c0006t0002g0138	1	360	0.0028	-115	c.-31 others(9): Show c.-314_-200del	BTBD2	ENSG00000133243.10	transcript	ENST00000255608.9	protein_coding		189		chr19	TogoVar
CACNG8_chr19_53957937_53995215	53960139	CTCTTATC others(108): Show CTCTTATCCCAGGTTGTTAGGGGCCTGGGGTCACAGGCTTACCCCACTGA GAGCAGATATCTGTTAAGACAGGGTAGGTGGCCCTGCTGGTGGTGAGGGG CACCAATTCGGGGAGA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0072 a0001c0001t0040g0072	1	392	0.0026	-115	c.-30 others(11): Show c.-3003_-2889del	CACNG8	ENSG00000142408.7	transcript	ENST00000270458.4	protein_coding		2797		chr19	TogoVar
CAMKK2_chr12_121232692_121301709	121255195	TATATATA others(108): Show TATATATATAATTATATATATAATTTTATATATATATAATTTTATATATA TATAATTATATATATAATTTTATATATATATAATTATATATATAATTATA TATATAATTTTATATA	T T	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02809.hp1 HG02970.hp2 others(3): Show HG02559.hp2 HG02809.hp1 HG02970.hp2 HG03041.hp2 HG03453.hp1 HG03486.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0005 a0001c0009t0005	a0001c0009t0005g0018 a0001c0009t0005g0030 a0001c0009t0005g0032 others(3): Show a0001c0009t0005g0018 a0001c0009t0005g0030 a0001c0009t0005g0032 a0001c0009t0005g0033 a0001c0009t0005g0035 a0001c0009t0005g0290	6	328	0.0183	-115	c.907 others(15): Show c.907+240_907+354del	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CCDC57_chr17_82096470_82217842	82147816	ATGGGTGG others(108): Show ATGGGTGGGTGGATGGGTAGATGGATGGATGGTTGGATGGGTGGGTGAAT GGATGAATGGGTGGGTGGATGGATGGATGGATAGATAGGTGGGTGGATGG ATGGTAGATGGATGGG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00558.hp1 others(116): Show HG00140.hp1 HG00280.hp2 HG00558.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00733.hp2 HG00735.hp2 HG00741.hp1 HG01070.hp1 HG01099.hp1 HG01106.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01255.hp1 HG01433.hp2 HG01515.hp2 HG01517.hp1 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01978.hp2 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02071.hp1 HG02071.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02451.hp2 HG02486.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02717.hp1 HG02735.hp2 HG02738.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03453.hp2 HG03471.hp1 HG03491.hp1 HG03492.hp1 HG03704.hp1 HG03710.hp2 HG03834.hp1 HG03927.hp1 HG03942.hp2 HG04115.hp2 HG04199.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18941.hp2 NA18943.hp2 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18964.hp2 NA18975.hp2 NA18980.hp1 NA18990.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19004.hp2 NA19010.hp1 NA19011.hp1 NA19030.hp2 NA19056.hp2 NA19064.hp1 NA19070.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp2 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0004 a0005 others(7): Show a0001 a0004 a0005 a0006 a0007 a0011 a0012 a0023 a0024 a0025	a0001c0001 a0001c0023 a0001c0027 others(10): Show a0001c0001 a0001c0023 a0001c0027 a0004c0007 a0004c0029 a0005c0008 a0006c0010 a0007c0011 a0011c0016 a0012c0017 a0023c0031 a0024c0030 a0025c0020	a0001c0001t0001 a0001c0001t0004 a0001c0023t0001 others(11): Show a0001c0001t0001 a0001c0001t0004 a0001c0023t0001 a0001c0027t0001 a0004c0007t0002 a0004c0029t0002 a0005c0008t0001 a0006c0010t0001 a0007c0011t0002 a0011c0016t0001 a0012c0017t0001 a0023c0031t0001 a0024c0030t0001 a0025c0020t0002	a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 others(116): Show a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0073 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0250 a0001c0001t0004g0143 a0001c0023t0001g0212 a0001c0027t0001g0066 a0004c0007t0002g0075 a0004c0007t0002g0157 a0004c0007t0002g0159 a0004c0007t0002g0161 a0004c0007t0002g0172 a0004c0007t0002g0179 a0004c0029t0002g0158 a0005c0008t0001g0069 a0005c0008t0001g0070 a0005c0008t0001g0071 a0005c0008t0001g0072 a0005c0008t0001g0074 a0005c0008t0001g0130 a0006c0010t0001g0028 a0006c0010t0001g0029 a0006c0010t0001g0030 a0006c0010t0001g0031 a0006c0010t0001g0032 a0007c0011t0002g0009 a0007c0011t0002g0010 a0007c0011t0002g0011 a0007c0011t0002g0012 a0011c0016t0001g0105 a0011c0016t0001g0183 a0012c0017t0001g0015 a0012c0017t0001g0016 a0023c0031t0001g0108 a0024c0030t0001g0003 a0025c0020t0002g0068	119	250	0.4760	-115	c.245 others(19): Show c.2455+3629_2455+3743del	CCDC57	ENSG00000176155.21	transcript	ENST00000694881.1	protein_coding	15/18			chr17	TogoVar
CD36_chr7_80633642_80684274	80681534	GGCCAGGT others(108): Show GGCCAGGTATACTTTCCCCTGTGTCTCTCCAATATAACAAGAATTAATTT TGACACCAGTCCCCTTCTGTATTTTGGACTCCCTTGCTTATACTCCAAAT CTGGTTTTAGTAACCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0010 a0001c0001t0009g0010	1	390	0.0026	-115	c.51 others(11): Show c.5152_*5266del	CD36	ENSG00000135218.19	transcript	ENST00000447544.7	protein_coding		2261		chr7	TogoVar
CD99L2_chrX_150761336_150903668	150769592	TCCTGGTC others(108): Show TCCTGGTCTCCCAGGCCCAGTCCCCACGGCTGCTGCACTGTAGTTCCACT GGCAACACTCGCCTGAGCTGTCCTAGTCTCCCTGCCTGCGCCACCAGGCC TCGGCTGCTCCCCGAC	T T	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0180 a0001c0001t0010g0180	1	210	0.0048	-115	c.721 others(15): Show c.721+597_722-492del	CD99L2	ENSG00000102181.22	transcript	ENST00000370377.8	protein_coding	10/10			chrX	TogoVar
CDC34_chr19_526760_547087	540420	GCCCCCCG others(108): Show GCCCCCCGGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCGGGTT TAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCGGGTTTAGAATCCGGAG GCCGGGGTGGCCAGGC	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01891.hp2 HG02145.hp2 others(8): Show HG01243.hp1 HG01891.hp2 HG02145.hp2 HG02258.hp1 HG02451.hp2 HG02572.hp1 HG02886.hp2 HG02895.hp2 HG02922.hp1 HG03225.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0021 a0001c0001t0001g0043 a0001c0001t0001g0049 others(3): Show a0001c0001t0001g0021 a0001c0001t0001g0043 a0001c0001t0001g0049 a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0005g0008	11	312	0.0353	-115	c.498 others(15): Show c.498-913_498-799del	CDC34	ENSG00000099804.9	transcript	ENST00000215574.9	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CDH20_chr18_61328430_61560779	61455474	ATAACCTT others(108): Show ATAACCTTAAGGAGGCACAAATTTTGAGTCATTTATTCTATGTTTTGGGT TTCTTCAATATGGCTATTTATAAAACCACTGGAAGGTCATATTCTCCTAA CAATATTTTTGACTAC	A A	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0001 a0002c0009t0001	a0002c0009t0001g0172 a0002c0009t0001g0172	1	278	0.0036	-115	c.-15 others(21): Show c.-152-34812_-152-34698del	CDH20	ENSG00000101542.10	transcript	ENST00000262717.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
CDH4_chr20_61247261_61945617	61458343	GGGCAGTG others(108): Show GGGCAGTGCTGACGCTGTGGTGGTCATGGTGGTGATGGTATGGTGATGGT CATGATGGTGATGACAGTGCTGACACTGGTGGTCATGGTGGTGATGGTCA TGGTTGTGATGGTGAT	G G	intron_variant intron_variant	MODIFIER	HG02965.hp2 NA18906.hp2 HG02965.hp2 NA18906.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0004 a0002c0002t0003 a0002c0002t0004	a0002c0002t0003g0067 a0002c0002t0004g0096 a0002c0002t0003g0067 a0002c0002t0004g0096	2	106	0.0189	-115	c.169 others(21): Show c.169+203419_169+203533del	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDK12_chr17_39456486_39539544	39499064	TTTCTTTC others(108): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0033 a0001c0001t0002g0033	1	256	0.0039	-115	c.242 others(19): Show c.2420-2183_2420-2069del	CDK12	ENSG00000167258.16	transcript	ENST00000447079.6	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CENPVL3_chrX_51612020_51623912	51621575	CTTCTTCT others(108): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	296	0.0034	-115	c.-28 others(11): Show c.-2817_-2703del	CENPVL3	ENSG00000224109.4	transcript	ENST00000417339.4	protein_coding		2664		chrX	TogoVar
CFAP46_chr10_132803392_132947570	132923275	GCCATGTG others(108): Show GCCATGTGGGGGTGCCCTGGAACCCCTGGCCTCGAGCAGCCATGTGGGGG TGCCCTGGAACCCCTGGCCTCGAGCAGCCATGTGGGGGTGCCCTGGAACC CCTGGCCTCGAGCAGC	G G	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0069 a0069	a0069c0050 a0069c0050	a0069c0050t0001 a0069c0050t0001	a0069c0050t0001g0156 a0069c0050t0001g0156	1	244	0.0041	-115	c.125 others(17): Show c.1257-682_1257-568del	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	11/57			chr10	TogoVar
CLN8_chr8_1758789_1791570	1763507	CCCCCCGC others(108): Show CCCCCCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCGCCGCGCCCC GCCCCCCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCGCCGCGCCC CGCCCCCCGCGCCGCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0064 a0001c0001t0064	a0001c0001t0064g0145 a0001c0001t0064g0145	1	410	0.0024	-115	c.-50 others(9): Show c.-501_-387del	CLN8	ENSG00000182372.10	transcript	ENST00000331222.6	protein_coding		281		chr8	TogoVar
CLN8_chr8_1758789_1791570	1763530	GCCGCGCC others(108): Show GCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCC CGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCGCGCCGCGCCCCGCC CCCCGCCGCGCCCCTC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	403	0.0025	-115	c.-47 others(9): Show c.-478_-364del	CLN8	ENSG00000182372.10	transcript	ENST00000331222.6	protein_coding		258		chr8	TogoVar
CNOT3_chr19_54132762_54160681	54133105	CCTCCCAA others(108): Show CCTCCCAAAGTGCTGGGATTACGGGTGTGACCCACCGCGCCCGGCCGAGA TGGGGTTTTACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAACT AATCCGCCTGCCTCGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	222	0.0045	-115	c.-49 others(11): Show c.-4938_-4824del	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		4656		chr19	TogoVar
COL26A1_chr7_101357875_101564024	101489663	TCCTTCCT others(108): Show TCCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTGTCTTTCTTTCTTT CATTCTTTCTTTCTCTCTCTCTTTCTCTCTTTCTTTCTTGTCTCTCTTTC TTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0165 a0002c0004t0001g0165	1	155	0.0065	-115	c.385 others(19): Show c.385+41877_385+41991del	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12			chr7	TogoVar
COLEC11_chr2_3590112_3649644	3591531	GGGGCGGC others(108): Show GGGGCGGCCGGGCAGAGACGCTCCTCACCTCCCAGATAGGGTTGCGGCCA GCAGAGGCGCTCCTCACATCCCAGACAGGGCGGCGGGGCAGAGGTGCTCC CCACATCTCAGACGAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0340 a0001c0001t0001g0340	1	373	0.0027	-115	c.-36 others(11): Show c.-3663_-3549del	COLEC11	ENSG00000118004.18	transcript	ENST00000349077.9	protein_coding		3580		chr2	TogoVar
COMMD10_chr5_116080025_116298287	116158280	GTCTCCCC others(108): Show GTCTCCCCTCTCCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTC TCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCC CTCTCCCCTCTCTCCC	G G	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	313	0.0032	-115	c.510 others(19): Show c.510+24114_510+24228del	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
COP1_chr1_175939831_176212286	176132693	CTATATAT others(108): Show CTATATATACACACATATACACATATGTACGTATATATACTATATATACA CACATATACACATATGTACGTATATATACTATATATACACACATATACAC ATATGTACGTATATAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00597.hp1 HG00639.hp2 others(70): Show HG00140.hp1 HG00597.hp1 HG00639.hp2 HG00642.hp1 HG01099.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01256.hp2 HG01358.hp1 HG01361.hp2 HG01496.hp1 HG01884.hp1 HG01891.hp1 HG01928.hp1 HG01981.hp1 HG02004.hp1 HG02055.hp2 HG02056.hp1 HG02080.hp2 HG02155.hp1 HG02273.hp2 HG02280.hp1 HG02572.hp2 HG02622.hp2 HG02630.hp2 HG02717.hp2 HG02922.hp1 HG02965.hp2 HG02976.hp1 HG03098.hp1 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03492.hp2 HG03579.hp2 HG03669.hp2 HG03688.hp2 HG03831.hp1 HG03834.hp1 HG04204.hp1 HG04228.hp1 NA18612.hp1 NA18939.hp1 NA18949.hp1 NA18950.hp1 NA18954.hp1 NA18955.hp2 NA18957.hp1 NA18959.hp2 NA18961.hp2 NA18962.hp1 NA18967.hp1 NA18974.hp1 NA18986.hp2 NA18989.hp1 NA18990.hp1 NA18993.hp2 NA18995.hp2 NA19002.hp2 NA19003.hp1 NA19011.hp2 NA19056.hp2 NA19058.hp1 NA19060.hp1 NA19066.hp2 NA19068.hp2 NA19074.hp1 NA19079.hp1 NA19080.hp2 NA19090.hp2 NA20129.hp1 NA20805.hp1	a0001 a0005 a0006 a0001 a0005 a0006	a0001c0001 a0005c0009 a0006c0007 a0001c0001 a0005c0009 a0006c0007	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0005c0009t0001 a0006c0007t0001	a0001c0001t0001g0037 a0001c0001t0001g0053 a0001c0001t0001g0056 others(70): Show a0001c0001t0001g0037 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0093 a0001c0001t0001g0132 a0001c0001t0001g0135 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0188 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0234 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0004g0277 a0001c0001t0004g0278 a0001c0001t0004g0279 a0001c0001t0006g0001 a0005c0009t0001g0247 a0006c0007t0001g0215	73	298	0.2450	-115	c.968 others(17): Show c.968+2202_968+2316del	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	8/19			chr1	TogoVar
CPSF2_chr14_92116969_92177145	92173319	ACATATAT others(108): Show ACATATATATATACGTATATATATATGTATATATATATACGTATATATAT ATGTATATATATACGTATATATATATATACACATATGTATATATATATAT GTGTATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0015 a0001c0001t0004g0015	1	370	0.0027	-115	c.11 others(13): Show c.11576_*11690del	CPSF2	ENSG00000165934.13	transcript	ENST00000298875.9	protein_coding		1175		chr14	TogoVar
CROCC2_chr2_240901336_240998311	240985376	GGCACTCA others(108): Show GGCACTCACTCCACACACACACCCAGGCACTCCACACACACACACCCAGG CACTCACTCCACACACACACCCAGGCACTCACTCCACCACACACACACAC CCAGGCACTCACTCCA	G G	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	313	0.0032	-115	c.455 others(19): Show c.4551+2348_4551+2462del	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	28/31			chr2	TogoVar
CSF2RA_chrX_1263814_1314935	1298615	CGACCCCT others(108): Show CGACCCCTACACTCTCCTACCCATGACCCCTGGTGGAACCCTACAGTCCC CTACTCACGACCCCTACACTCTCCTACCCATGACCTCTGGTGGAACCCTA CAGTCCCCTACTCACG	C C	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0065 a0001c0001t0004g0065	1	156	0.0064	-115	c.811 others(17): Show c.811-1875_811-1761del	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	9/12			chrX	TogoVar
CSMD2_chr1_33508998_34170230	33509591	GCGGCCAG others(108): Show GCGGCCAGGCAGAGACGCTCCTCACTTCCTAGATGGGATGGCGCCGGGAA GAGGCGCTCCTCACTTCCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCA CATCCCAGACGATGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0015 a0015	a0015c0023 a0015c0023	a0015c0023t0003 a0015c0023t0003	a0015c0023t0003g0039 a0015c0023t0003g0039	1	64	0.0156	-115	c.69 others(11): Show c.6918_*7032del	CSMD2	ENSG00000121904.19	transcript	ENST00000373381.9	protein_coding		4406		chr1	TogoVar
CSPP1_chr8_67059392_67201614	67081155	CCCACTGT others(108): Show CCCACTGTGAATAATAAAGACATTCCCATCATCTGGTAAATTTTAAGGTC AAACCCACTAGGGGCTCACAATGATTTACGTTGTTCGTGTAAACTATTAG GTGTGGTCCAAGGTGT	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01070.hp1 HG01071.hp1 others(30): Show HG00741.hp1 HG01070.hp1 HG01071.hp1 HG01192.hp1 HG01978.hp1 HG01981.hp1 HG02056.hp1 HG02109.hp1 HG02145.hp2 HG02258.hp2 HG02293.hp2 HG02559.hp1 HG02559.hp2 HG02622.hp1 HG02647.hp2 HG02683.hp1 HG02717.hp2 HG02738.hp1 HG02818.hp1 HG02897.hp1 HG02922.hp1 HG03017.hp1 HG03041.hp1 HG03098.hp2 HG03471.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03942.hp1 NA18522.hp1 NA18906.hp2 NA20300.hp2	a0002 a0005 a0002 a0005	a0002c0002 a0002c0007 a0005c0008 a0002c0002 a0002c0007 a0005c0008	a0002c0002t0002 a0002c0002t0005 a0002c0007t0002 others(1): Show a0002c0002t0002 a0002c0002t0005 a0002c0007t0002 a0005c0008t0002	a0002c0002t0002g0009 a0002c0002t0002g0110 a0002c0002t0002g0111 others(30): Show a0002c0002t0002g0009 a0002c0002t0002g0110 a0002c0002t0002g0111 a0002c0002t0002g0112 a0002c0002t0002g0113 a0002c0002t0002g0114 a0002c0002t0002g0115 a0002c0002t0002g0116 a0002c0002t0002g0117 a0002c0002t0002g0118 a0002c0002t0002g0119 a0002c0002t0002g0120 a0002c0002t0002g0121 a0002c0002t0002g0122 a0002c0002t0002g0123 a0002c0002t0002g0126 a0002c0002t0002g0127 a0002c0002t0002g0128 a0002c0002t0002g0129 a0002c0002t0002g0130 a0002c0002t0002g0131 a0002c0002t0002g0132 a0002c0002t0002g0134 a0002c0002t0002g0135 a0002c0002t0002g0136 a0002c0002t0002g0137 a0002c0002t0002g0138 a0002c0002t0002g0139 a0002c0002t0005g0133 a0002c0007t0002g0145 a0002c0007t0002g0146 a0005c0008t0002g0124 a0005c0008t0002g0125	33	156	0.2115	-115	c.199 others(17): Show c.199+4603_200-4709del	CSPP1	ENSG00000104218.16	transcript	ENST00000678616.1	protein_coding	3/30		INFO_REALIGN_3_PRIME	chr8	TogoVar
DNAH9_chr17_11593470_11974748	11711901	TATATTTG others(108): Show TATATTTGTATATATATTTATATATAAATATATATATTTGTATATATATT TATATATAAATATATATATTTGTATATATATTTATATATAAATATATATA TTTGTATATATATTTA	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02145.hp1 HG02257.hp1 others(14): Show HG02109.hp1 HG02145.hp1 HG02257.hp1 HG02572.hp1 HG02622.hp2 HG02717.hp2 HG02723.hp2 HG02809.hp2 HG02886.hp2 HG02922.hp2 HG03130.hp1 HG03453.hp1 HG03471.hp1 HG03579.hp1 HG06807.hp1 NA20129.hp2 NA20300.hp1	a0001 a0004 a0009 others(12): Show a0001 a0004 a0009 a0018 a0031 a0033 a0034 a0047 a0049 a0051 a0054 a0060 a0064 a0071 a0080	a0001c0127 a0001c0129 a0004c0128 others(13): Show a0001c0127 a0001c0129 a0004c0128 a0009c0025 a0018c0017 a0031c0084 a0033c0147 a0034c0063 a0047c0067 a0049c0079 a0051c0089 a0054c0095 a0060c0116 a0064c0020 a0071c0080 a0080c0078	a0001c0127t0001 a0001c0129t0001 a0004c0128t0001 others(13): Show a0001c0127t0001 a0001c0129t0001 a0004c0128t0001 a0009c0025t0002 a0018c0017t0001 a0031c0084t0001 a0033c0147t0001 a0034c0063t0001 a0047c0067t0001 a0049c0079t0001 a0051c0089t0001 a0054c0095t0001 a0060c0116t0001 a0064c0020t0001 a0071c0080t0001 a0080c0078t0001	a0001c0127t0001g0052 a0001c0129t0001g0112 a0004c0128t0001g0156 others(14): Show a0001c0127t0001g0052 a0001c0129t0001g0112 a0004c0128t0001g0156 a0009c0025t0002g0019 a0018c0017t0001g0009 a0018c0017t0001g0014 a0031c0084t0001g0169 a0033c0147t0001g0007 a0034c0063t0001g0118 a0047c0067t0001g0038 a0049c0079t0001g0133 a0051c0089t0001g0094 a0054c0095t0001g0044 a0060c0116t0001g0147 a0064c0020t0001g0005 a0071c0080t0001g0022 a0080c0078t0001g0050	17	111	0.1532	-115	c.555 others(19): Show c.5552+6717_5552+6831del	DNAH9	ENSG00000007174.18	transcript	ENST00000262442.9	protein_coding	26/68			chr17	TogoVar

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