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
WDR64_chr1_241647281_241807777	241674918	T T	TCCTTCCT others(212): Show TCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCT CCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTG CCTCCCTCCCTCCCTCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTC CTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCC CTCCCTCCTTCCTTCCTCCC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01261.hp1 HG00323.hp2 HG01261.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0003 a0001c0002 a0003c0003	a0001c0002t0001 a0003c0003t0003 a0001c0002t0001 a0003c0003t0003	a0001c0002t0001g0080 a0003c0003t0003g0260 a0001c0002t0001g0080 a0003c0003t0003g0260	2	326	0.0061	219	c.483 others(234): Show c.483+171_483+172insCCTTCCTGCCTCCCTCCCTCCTTCCTTCCT CCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTT CCTTCCTCCCTCCCTCCTGCCTCCCTCCCTCCCTCCTGCCTCCCTCCCTC CTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCC CTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCC	WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	4/27			chr1	TogoVar
WDR64_chr1_241647281_241807777	241674918	T T	TCCTTCCT others(212): Show TCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCT CCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTG CCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTC CTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCC CTCCCTCCTTCCTTCCTCCC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00558.hp2 HG01361.hp2 others(3): Show HG00323.hp1 HG00558.hp2 HG01361.hp2 HG03710.hp2 NA19064.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 a0001c0001t0004 a0001c0002t0001 a0001c0002t0002	a0001c0001t0004g0244 a0001c0001t0004g0245 a0001c0001t0004g0249 others(3): Show a0001c0001t0004g0244 a0001c0001t0004g0245 a0001c0001t0004g0249 a0001c0001t0004g0273 a0001c0002t0001g0086 a0001c0002t0002g0088	6	326	0.0184	219	c.483 others(234): Show c.483+171_483+172insCCTTCCTGCCTCCCTCCCTCCTTCCTTCCT CCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTT CCTTCCTCCCTCCCTCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTC CTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCC CTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCC	WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	4/27			chr1	TogoVar
WDR64_chr1_241647281_241807777	241674918	T T	TCCTTCCT others(212): Show TCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCT CCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTG CCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTC CTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCC CTCCCTGCTTCCTTCCTCCC	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0194 a0001c0002t0001g0194	1	326	0.0031	219	c.483 others(234): Show c.483+171_483+172insCCTTCCTGCCTCCCTCCCTCCTTCCTTCCT CCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTT CCTTCCTCCCTCCCTCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTC CTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCC CTCCCTCCTTCCTTCCTCCCTCCCTGCTTCCTTCCTCCC	WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	4/27			chr1	TogoVar
WDR64_chr1_241647281_241807777	241674918	T T	TCCTTCCT others(212): Show TCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCT CCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTT CCTCCCTCCCTCCCTCCTGCCTCCCTCCCTCCCTCCTGCCTCCCTCCCTC CTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCC CTCCCTCCTTCCTTCCTCCC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0009 a0002c0004t0003g0009	1	326	0.0031	219	c.483 others(234): Show c.483+171_483+172insCCTTCCTGCCTCCCTCCCTCCTTCCTTCCT CCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTT CCTTCCTCCCTCCCTCCTTCCTCCCTCCCTCCCTCCTGCCTCCCTCCCTC CCTCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCC CTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCC	WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	4/27			chr1	TogoVar
WDR64_chr1_241647281_241807777	241674918	T T	TCCTTCCT others(212): Show TCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCT CCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTT CCTTCCTCCCTCCCTCCTGCCTCCCTCCCTCCCTCCTGCCTCCCTCCCTC CCTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCC CTCCCTCCTTCCTTCCTCCC	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0257 a0001c0002t0002g0257	1	326	0.0031	219	c.483 others(234): Show c.483+171_483+172insCCTTCCTGCCTCCCTCCCTCCTTCCTTCCT CCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTT CCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTGCCTCCCTCCCTC CCTCCTGCCTCCCTCCCTCCCTCCTGCCTCCCTCCCTCCTTCCTTCCTCC CTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCC	WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	4/27			chr1	TogoVar
WDR7_chr18_56646359_57034792	56826056	T T	TGGGGGAG others(212): Show TGGGGGAGGGCAGGTGGGTGGTAGAGGGAAGCCATCCTTGTGAGTGAATA ACCTTCAGGATGAACTTAAAGTCTGGCCTTTTGTGAGCTGTGTAATAATA ACTCATGGATAAGGGTGAATTACATTAGATTGTGGCACACTATTATATAT CTATATATTACATGAATTGCCCTTATAATTGATATCAAACTCATATGACC AAAAGTTGTAATTCACAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp2 HG00609.hp2 others(14): Show HG00140.hp2 HG00423.hp2 HG00609.hp2 HG02040.hp1 HG02280.hp1 HG02698.hp1 HG02723.hp1 HG03669.hp1 HG04199.hp1 HG04228.hp2 NA18948.hp1 NA18950.hp2 NA19004.hp1 NA19030.hp2 NA19062.hp2 NA19084.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0002t0016 a0001c0002t0019 a0001c0002t0026	a0001c0001t0001g0012 a0001c0001t0001g0029 a0001c0001t0001g0065 others(14): Show a0001c0001t0001g0012 a0001c0001t0001g0029 a0001c0001t0001g0065 a0001c0001t0001g0072 a0001c0001t0002g0013 a0001c0001t0003g0001 a0001c0001t0003g0016 a0001c0002t0002g0020 a0001c0002t0002g0039 a0001c0002t0002g0041 a0001c0002t0002g0064 a0001c0002t0003g0023 a0001c0002t0004g0078 a0001c0002t0006g0046 a0001c0002t0016g0116 a0001c0002t0019g0070 a0001c0002t0026g0017	17	144	0.1181	219	c.330 others(239): Show c.3304+9914_3304+10132dupGGGGAGGGCAGGTGGGTGGTAGAGG GAAGCCATCCTTGTGAGTGAATAACCTTCAGGATGAACTTAAAGTCTGGC CTTTTGTGAGCTGTGTAATAATAACTCATGGATAAGGGTGAATTACATTA GATTGTGGCACACTATTATATATCTATATATTACATGAATTGCCCTTATA ATTGATATCAAACTCATATGACCAAAAGTTGTAATTCACAAAAG	WDR7	ENSG00000091157.15	transcript	ENST00000254442.8	protein_coding	20/27		INFO_REALIGN_3_PRIME	chr18	TogoVar
WDR81_chr17_1719704_1743585	1742010	G G	GAGCCTGA others(212): Show GAGCCTGATGCAGGGAGTGAGGAGCAGGTGTGAGGGTGGGAAGGAGCCTG ATGCAGGGAGTGAGGAGCAGGATAGTGAGGGTGGGAGGCGGCCTGATGCA GGGAGTGAGGAGCAGGTGTGAGGGTGGGAAGCGGCCTGATGCAGGGAGTG AGGAGCCGGACAGTGAGGGTGGGAAGGAGCCCGATGTAGGGAGTGAGGAG CAGGTGTGAGGGCGGGAAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00408.hp2 others(189): Show HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01106.hp2 HG01109.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01243.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01358.hp2 HG01496.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG02015.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02683.hp2 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp2 HG04228.hp2 NA18747.hp1 NA18747.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp2 NA18957.hp1 NA18960.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp2 NA18980.hp1 NA18983.hp2 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18990.hp1 NA18991.hp1 NA18991.hp2 NA18997.hp2 NA18998.hp1 NA19000.hp2 NA19001.hp1 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19059.hp1 NA19062.hp2 NA19063.hp1 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp2 NA19074.hp2 NA19077.hp1 NA19079.hp1 NA19080.hp1 NA19083.hp2 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19087.hp2 NA19088.hp2 NA19089.hp2 NA19090.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(12): Show a0001 a0002 a0003 a0004 a0005 a0006 a0009 a0011 a0014 a0015 a0016 a0018 a0019 a0024 a0026	a0001c0002 a0001c0006 a0001c0012 others(25): Show a0001c0002 a0001c0006 a0001c0012 a0001c0015 a0001c0019 a0001c0041 a0002c0001 a0002c0014 a0002c0047 a0002c0052 a0002c0066 a0003c0021 a0004c0018 a0004c0023 a0004c0031 a0004c0039 a0004c0060 a0005c0010 a0006c0025 a0009c0030 a0011c0064 a0014c0034 a0015c0046 a0016c0049 a0018c0053 a0019c0051 a0024c0054 a0026c0040	a0001c0002t0001 a0001c0002t0009 a0001c0006t0001 others(27): Show a0001c0002t0001 a0001c0002t0009 a0001c0006t0001 a0001c0012t0001 a0001c0015t0001 a0001c0019t0001 a0001c0041t0001 a0002c0001t0002 a0002c0001t0007 a0002c0014t0002 a0002c0047t0002 a0002c0052t0002 a0002c0066t0002 a0003c0021t0002 a0004c0018t0005 a0004c0023t0002 a0004c0031t0002 a0004c0039t0001 a0004c0060t0002 a0005c0010t0002 a0006c0025t0002 a0009c0030t0001 a0011c0064t0002 a0014c0034t0012 a0015c0046t0002 a0016c0049t0002 a0018c0053t0007 a0019c0051t0011 a0024c0054t0002 a0026c0040t0002	a0001c0002t0001g0001 a0001c0002t0001g0011 a0001c0002t0001g0012 others(64): Show a0001c0002t0001g0001 a0001c0002t0001g0011 a0001c0002t0001g0012 a0001c0002t0001g0025 a0001c0002t0001g0033 a0001c0002t0001g0041 a0001c0002t0001g0043 a0001c0002t0001g0083 a0001c0002t0001g0087 a0001c0002t0009g0001 a0001c0006t0001g0001 a0001c0006t0001g0024 a0001c0006t0001g0044 a0001c0006t0001g0086 a0001c0012t0001g0001 a0001c0015t0001g0001 a0001c0019t0001g0036 a0001c0041t0001g0001 a0002c0001t0002g0004 a0002c0001t0002g0006 a0002c0001t0002g0007 a0002c0001t0002g0008 a0002c0001t0002g0009 a0002c0001t0002g0015 a0002c0001t0002g0018 a0002c0001t0002g0019 a0002c0001t0002g0020 a0002c0001t0002g0026 a0002c0001t0002g0027 a0002c0001t0002g0037 a0002c0001t0002g0039 a0002c0001t0002g0040 a0002c0001t0002g0045 a0002c0001t0002g0046 a0002c0001t0002g0047 a0002c0001t0002g0050 a0002c0001t0002g0052 a0002c0001t0002g0053 a0002c0001t0002g0089 a0002c0001t0002g0097 a0002c0001t0002g0099 a0002c0001t0007g0007 a0002c0001t0007g0027 a0002c0001t0007g0078 a0002c0014t0002g0009 a0002c0047t0002g0004 a0002c0052t0002g0051 a0002c0066t0002g0004 a0003c0021t0002g0064 a0004c0018t0005g0014 a0004c0023t0002g0022 a0004c0031t0002g0007 a0004c0039t0001g0084 a0004c0060t0002g0069 a0005c0010t0002g0004 a0005c0010t0002g0090 a0006c0025t0002g0004 a0006c0025t0002g0006 a0009c0030t0001g0001 a0011c0064t0002g0004 a0014c0034t0012g0001 a0015c0046t0002g0004 a0016c0049t0002g0004 a0018c0053t0007g0007 a0019c0051t0011g0015 a0024c0054t0002g0004 a0026c0040t0002g0022	192	431	0.4455	219	c.43 others(230): Show c.4325_*4326insAGCCTGATGCAGGGAGTGAGGAGCAGGTGTGAGG GTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGATAGTGAGGGTGGG AGGCGGCCTGATGCAGGGAGTGAGGAGCAGGTGTGAGGGTGGGAAGCGGC CTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCCGAT GTAGGGAGTGAGGAGCAGGTGTGAGGGCGGGAAGC	WDR81	ENSG00000167716.19	transcript	ENST00000409644.6	protein_coding		3426		chr17	TogoVar
WDR81_chr17_1719704_1743585	1742010	G G	GAGCCTGA others(212): Show GAGCCTGATGCAGGGAGTGAGGAGCAGGTGTGAGGGTGGGAAGGAGCCTG ATGCGGGGAGTGAGGAGCAGGATAGTGAGGGTGGGAGGCGGCCTGATGCA GGGAGTGAGGAGCAGGTGTGAGGGTGGGAAGCGGCCTGATGCAGGGAGTG AGGAGCCGGACAGTGAGGGTGGGAAGGAGCCCGATGTAGGGAGTGAGGAG CAGGTGTGAGGGCGGGAAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0008 a0001c0019t0008	a0001c0019t0008g0070 a0001c0019t0008g0070	1	431	0.0023	219	c.43 others(230): Show c.4325_*4326insAGCCTGATGCAGGGAGTGAGGAGCAGGTGTGAGG GTGGGAAGGAGCCTGATGCGGGGAGTGAGGAGCAGGATAGTGAGGGTGGG AGGCGGCCTGATGCAGGGAGTGAGGAGCAGGTGTGAGGGTGGGAAGCGGC CTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCCGAT GTAGGGAGTGAGGAGCAGGTGTGAGGGCGGGAAGC	WDR81	ENSG00000167716.19	transcript	ENST00000409644.6	protein_coding		3426		chr17	TogoVar
WDR81_chr17_1719704_1743585	1742011	G G	AGCCTGAT others(212): Show AGCCTGATGCAGGGAGTGAGGAGCAGGTGTGAGGGTGGGAAGGAGCCTGA TGCAGGGAGTGAGGAGCAGGATAGTGAGGGTGGGAGGCGGCCTGATGCAG GGAGTGAGGAGCAGGTGTGAGGGTGGGAAGCGGCCTGATGCAGGGAGTGA GGAGCCGGACAGTGAGGGTGGGAAGGAGCCCGATGTAGGGAGTGAGGAGC AGGTGTGAGGGCGGGAAGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG04184.hp2 NA18984.hp2 HG00323.hp2 HG04184.hp2 NA18984.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0019 a0002c0001t0002g0026 a0002c0001t0002g0088 a0002c0001t0002g0019 a0002c0001t0002g0026 a0002c0001t0002g0088	3	431	0.0070	219	c.43 others(230): Show c.4325_*4326insAGCCTGATGCAGGGAGTGAGGAGCAGGTGTGAGG GTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGATAGTGAGGGTGGG AGGCGGCCTGATGCAGGGAGTGAGGAGCAGGTGTGAGGGTGGGAAGCGGC CTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCCGAT GTAGGGAGTGAGGAGCAGGTGTGAGGGCGGGAAGC	WDR81	ENSG00000167716.19	transcript	ENST00000409644.6	protein_coding		3426		chr17	TogoVar
WDR87_chr19_37879823_37911594	37881047	A A	ATATAATA others(212): Show ATATAATAATATATATTAATATATATATATAATATATATATATTATATAT ATTAATATATATATAATATATATAATATTATATATATAATATATATTATA TAATATATAATATAATATATATAAATATATATTATAATATATAATATATA TATATTATTATATTATATATAATATATATATATATATTATATAATTATTA TAATATATTATATAATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0032 a0032	a0032c0044 a0032c0044	a0032c0044t0001 a0032c0044t0001	a0032c0044t0001g0166 a0032c0044t0001g0166	1	330	0.0030	219	c.38 others(230): Show c.3884_*3885insATATATTATATAATATATTATAATAATTATATAA TATATATATATATATTATATATAATATAATAATATATATATATTATATAT TATAATATATATTTATATATATTATATTATATATTATATAATATATATTA TATATATAATATTATATATATTATATATATATTAATATATATAATATATA TATATTATATATATATATTAATATATATTATTATA	WDR87	ENSG00000171804.11	transcript	ENST00000447313.7	protein_coding		3775		chr19	TogoVar
WDR87_chr19_37879823_37911594	37881047	A A	ATATATAA others(212): Show ATATATAATATATATATATAATATATATATATATATATATATATATATTA TATATATATAATATATATATATTATATATATATTATATATATATAATATA TATTATATATATATAATATATATATAATATATATATATTATATATATATA ATATATATATTATATATATATAATATATATATATATTATATATATTATAT ATATATAATATATATATAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0066 a0001c0001t0002g0066	1	330	0.0030	219	c.38 others(230): Show c.3884_*3885insATTATATATATATTATATATATATAATATATATA ATATATATATATATTATATATATATAATATATATATTATATATATATAAT ATATATATATTATATATATATTATATATATATAATATATATTATATATAT ATAATATATATATAATATATATATATTATATATATATAATATATATATAT ATATATATATATATATTATATATATATATTATATA	WDR87	ENSG00000171804.11	transcript	ENST00000447313.7	protein_coding		3775		chr19	TogoVar
WFIKKN1_chr16_625985_639117	632057	A A	ACTCCTCC others(212): Show ACTCCTCCCACCCTCTCCTCCCATCCACTTCTCCCACCCCATCACTGCCT CTCCTTCCATCCTCTCCTATCCACTCCTCCCATCCACTTCTTCCATCCTC TTCTCCCACCCCATCACTGCCTCTCCTTCCATCCTCTCCTATCCACTCCT CCCATCCACTTTTTCCATCCTCTTCTCCCACCCCGTCATTGCCTCTCCTT CCATCCTCTCCTCCCACCCT	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0034 a0001c0002t0001g0034	1	404	0.0025	219	c.172 others(234): Show c.172-516_172-515insCCCTCTCCTCCCATCCACTTCTCCCACCCC ATCACTGCCTCTCCTTCCATCCTCTCCTATCCACTCCTCCCATCCACTTC TTCCATCCTCTTCTCCCACCCCATCACTGCCTCTCCTTCCATCCTCTCCT ATCCACTCCTCCCATCCACTTTTTCCATCCTCTTCTCCCACCCCGTCATT GCCTCTCCTTCCATCCTCTCCTCCCACCCTCTCCTCCCA	WFIKKN1	ENSG00000127578.7	transcript	ENST00000319070.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr16	TogoVar
YBEY_chr21_46281342_46302751	46294507	C C	CCTTGGTT others(212): Show CCTTGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCACGCAA GTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGG AAGTGAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCT TGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTT AAACTCTAGATTAAATTCCT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0381 a0001c0001t0001g0381	1	404	0.0025	219	c.340 others(236): Show c.340-1654_340-1653insTTGGTTAGCCTGACCCATGCCCGGGACT CAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGG TTAGCCTGACCCGTGCCCGGAAGTGAGTGGAGTCAGCCACGCAAGTTAAA CTCTAGATTAAATTCCTCCTTGGTTAGCCTGACCCATGCCCGGGACTCAG TGGAGTCAGCCACGCAAGTTAAACTCTAGATTAAATTCCTC	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
ZMAT4_chr8_40525590_40902826	40792643	G G	GAGGGGAG others(212): Show GAGGGGAGGGGAGGGAGGAGAGGGGAGGAGAGGGGAGAGGAGGAGAGGGG AGGGGAGGAGAGGGGAGGGGAGGAGAGGGGAGGGGAGGGGAGGGAAGGAG AGGGTAGAGGAGGAGAGGGTAGAGGAGGAGAGGGTAGAGGAGGAGAGGGG AGGGGAGGAGAGGGGAGGGGAGGGGAGGGGAGAGGAGGAGAGGGGAGGGG GAGGGGAGGGGAGAGGAGGA	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	228	0.0044	219	c.103 others(238): Show c.103-24914_103-24913insTCCTCCTCTCCCCTCCCCTCCCCCTC CCCTCTCCTCCTCTCCCCTCCCCTCCCCTCCCCTCTCCTCCCCTCCCCTC TCCTCCTCTACCCTCTCCTCCTCTACCCTCTCCTCCTCTACCCTCTCCTT CCCTCCCCTCCCCTCCCCTCTCCTCCCCTCCCCTCTCCTCCCCTCCCCTC TCCTCCTCTCCCCTCTCCTCCCCTCTCCTCCCTCCCCTCCCCT	ZMAT4	ENSG00000165061.15	transcript	ENST00000297737.11	protein_coding	2/6			chr8	TogoVar
ZNF16_chr8_144925358_144955880	144946788	T T	TGGGCCTG others(212): Show TGGGCCTGTGTCCTGCTGTGGGCCTGTGTCCTGCTGTGGGGCTGTGTCCT GCTGTTGGGCTGTGTCCTGCTGTGGGCCTGTGTCCTGCTGTGGGCCTGTG TCCTGCTGTGGGCCTGTGTCCTGCTGTGGGGCTGTGTCCTGCTGTGGGCC TGTGTCCTGCTGTGGGCCTGTGTCCTGCTGTTGGGCTTGTGTCCTGCTGT TGGGCCTGTGTCCTGCTGTG	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0118 a0001c0002t0001g0118	1	404	0.0025	219	c.-9- others(232): Show c.-9-574_-9-573insCACAGCAGGACACAGGCCCAACAGCAGGACAC AAGCCCAACAGCAGGACACAGGCCCACAGCAGGACACAGGCCCACAGCAG GACACAGCCCCACAGCAGGACACAGGCCCACAGCAGGACACAGGCCCACA GCAGGACACAGGCCCACAGCAGGACACAGCCCAACAGCAGGACACAGCCC CACAGCAGGACACAGGCCCACAGCAGGACACAGGCCC	ZNF16	ENSG00000170631.15	transcript	ENST00000394909.7	protein_coding	1/2			chr8	TogoVar
ZNF365_chr10_62369369_62407450	62371309	C C	CATATATA others(212): Show CATATATATATCATATATATGATATATATCTCATATATATATCATATATA TGATATATATCTCATATATATATCATATATATGATATATATCTCATATAT ATATCATATATATGAGATATATCTCATATATATATCATATATATGAGATA TATCTCATATATATATCATATATATGAGATATATCTCATATATCTATCAT ATATATGAGATATATCTCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02155.hp1 NA18957.hp1 HG02155.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0136 a0001c0001t0002g0159 a0001c0001t0002g0136 a0001c0001t0002g0159	2	350	0.0057	219	c.-31 others(230): Show c.-3163_-3162insATATATATATCATATATATGATATATATCTCATA TATATATCATATATATGATATATATCTCATATATATATCATATATATGAT ATATATCTCATATATATATCATATATATGAGATATATCTCATATATATAT CATATATATGAGATATATCTCATATATATATCATATATATGAGATATATC TCATATATCTATCATATATATGAGATATATCTCAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3059		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62371309	C C	CATATATA others(212): Show CATATATATATCATATATATGATATATATCTCATATATATATCATATATA TGATATATATCTCATATATATATCATATATATGATATATATCTCATATAT ATATCATATATATGATATATATCTCATATATATATCATATATATGATATA TATCTCATATATATATCATATATATGAGATATATCTCATATATCTATCAT ATATATGATATATATCTCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0135 a0001c0001t0002g0135	1	350	0.0029	219	c.-31 others(230): Show c.-3163_-3162insATATATATATCATATATATGATATATATCTCATA TATATATCATATATATGATATATATCTCATATATATATCATATATATGAT ATATATCTCATATATATATCATATATATGATATATATCTCATATATATAT CATATATATGATATATATCTCATATATATATCATATATATGAGATATATC TCATATATCTATCATATATATGATATATATCTCAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3059		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62371309	C C	CATATATA others(212): Show CATATATATATCATATATATGATATATATCTCATATATATATCATATATA TGATATATATCTCATATATATATCATATATATGATATATATCTCATATAT ATATCATATATATGATATATATCTCATATATATATCATATATATGATATA TATCTCATATATATATCATATATATGATATATATCTCATATATCTATCAT ATATATGAGATATATCTCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	1	350	0.0029	219	c.-31 others(230): Show c.-3163_-3162insATATATATATCATATATATGATATATATCTCATA TATATATCATATATATGATATATATCTCATATATATATCATATATATGAT ATATATCTCATATATATATCATATATATGATATATATCTCATATATATAT CATATATATGATATATATCTCATATATATATCATATATATGATATATATC TCATATATCTATCATATATATGAGATATATCTCAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3059		chr10	TogoVar
ZNF516_chr18_76352682_76500242	76424258	C C	CCCCGAAA others(212): Show CCCCGAAACACACACAGGTAAAAAGGCTTCACCCCTGAAACACCCACACG CAGGTGAAAGGGTCCCCCCCGAAACACACGCAGGTGAAAAGGCTCCCTCC TGAAACATACACACGCAGGTGAAAAGGCTCCCCCGAAACACACGCAGGTG AAAAGGTTCCCCCATGAAACACACGCAGGTGAAAAGGTTACCCCATGAAA CACACGCAGGTGAAAAGGCT	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0185 a0001c0001t0185	a0001c0001t0185g0323 a0001c0001t0185g0323	1	346	0.0029	219	c.181 others(240): Show c.1810+16986_1810+16987insAGCCTTTTCACCTGCGTGTGTTTC ATGGGGTAACCTTTTCACCTGCGTGTGTTTCATGGGGGAACCTTTTCACC TGCGTGTGTTTCGGGGGAGCCTTTTCACCTGCGTGTGTATGTTTCAGGAG GGAGCCTTTTCACCTGCGTGTGTTTCGGGGGGGACCCTTTCACCTGCGTG TGGGTGTTTCAGGGGTGAAGCCTTTTTACCTGTGTGTGTTTCGGG	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ABCB11_chr2_168915781_169036324	168975305	A A	ATAGATAA others(213): Show ATAGATAAATATATAAATATATAAATATTTTTATATTTATAGATAAATAT ATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATATAA ATATTTTTATATTTATAGATAAATATATAAATATATAAATATTTTTATAT TTATAGATAAATATATAAATATATAAATATTTTTATATTTATAGATAAAT ATATAAATATATAAATATTTT	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0002 a0005c0011t0002	a0005c0011t0002g0153 a0005c0011t0002g0153	1	306	0.0033	220	c.130 others(239): Show c.1308+1271_1308+1272insAAAATATTTATATATTTATATATTTA TCTATAAATATAAAAATATTTATATATTTATATATTTATCTATAAATATA AAAATATTTATATATTTATATATTTATCTATAAATATAAAAATATTTATA TATTTATATATTTATCTATAAATATAAAAATATTTATATATTTATATATT TATCTATAAATATAAAAATATTTATATATTTATATATTTATCTA	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABCB11_chr2_168915781_169036324	168975544	T T	TATAAATA others(213): Show TATAAATATTTTTATATTTATAAATATATAAATATTTTTATATTTATAAA TATATAAATATTTTTATATTTATAAATATATAAATATTTTTATATTTATA GATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATTTT TATATTTATAGATAAATATATAAATATTTTTATATTTATAGATAAATATA TAAATATTTTTATATTTATAG	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0148 a0001c0002t0003g0148	1	306	0.0033	220	c.130 others(239): Show c.1308+1032_1308+1033insCTATAAATATAAAAATATTTATATAT TTATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAAAT ATTTATATATTTATCTATAAATATAAAAATATTTATATATTTATCTATAA ATATAAAAATATTTATATATTTATAAATATAAAAATATTTATATATTTAT AAATATAAAAATATTTATATATTTATAAATATAAAAATATTTAT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ACAP3_chr1_1287391_1312930	1288246	T T	TCTGCTCC others(213): Show TCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCG TGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCC GTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTG CTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTG TCTCTGCCCCGTCCCGTGTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0116 a0001c0001t0002g0116	1	295	0.0034	220	c.53 others(231): Show c.5317_*5318insGGACACGGGACGGGGCAGAGACACGGGACGGAGC AGAGACACGGGACGGAGCAGAGACACGGGGGACGGAGCAGAGACACGGGA CGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGGGCAGAGACAC GGGACGGAGCAGAGACACGGGGGACGGAGCAGAGACACGGGACGGAGCAG AGACACGGGACGGGGCAGAGACACGGGACGGAGCAG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		4144		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288813	C C	CCGTGTCT others(213): Show CCGTGTCTCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC CCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCG TCCCCCGTGTCTCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0035 a0004c0008t0001g0035	1	295	0.0034	220	c.47 others(231): Show c.4750_*4751insACGGAGCAGAGACACGGGGGACGGGGCAGAGACA CGGGACGGAGCAGGGACACGGGACGGAGCAGACACGGGGGACGGAGCAGA GACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAG CAGAGACACGGGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGG ACGGAGCAGAGACTCGGGGGACGGAGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3577		chr1	TogoVar
ACSF3_chr16_89088852_89161233	89137288	T T	TCGGGAGG others(213): Show TCGGGAGGACCACCAGGAGCTCACGGGGAAGGATTGAGGGGAAGAGCCCC GGGTCTCGGGAGGACCACCAGGAGCTTGTGGGGAAGGACTGAGGGGAAGA GCCCCAGGTCTCGGGAGGACCACCAGGAGCTCACGGGGAAGGATTGAGGG GAAGAGCCCCGGGTCTCGGGAGGACCACCAGGAGCTCACGGGGAAGGATT GAGGGGAAGAGCCCCAGGTCC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02040.hp1 HG02056.hp1 others(6): Show HG00408.hp1 HG02040.hp1 HG02056.hp1 NA18961.hp1 NA18985.hp2 NA18990.hp1 NA19067.hp2 NA19080.hp2 NA19083.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0006 a0002c0002 a0003c0006	a0002c0002t0007 a0003c0006t0007 a0003c0006t0048 a0002c0002t0007 a0003c0006t0007 a0003c0006t0048	a0002c0002t0007g0109 a0003c0006t0007g0044 a0003c0006t0007g0053 others(6): Show a0002c0002t0007g0109 a0003c0006t0007g0044 a0003c0006t0007g0053 a0003c0006t0007g0054 a0003c0006t0007g0057 a0003c0006t0007g0067 a0003c0006t0007g0068 a0003c0006t0007g0069 a0003c0006t0048g0056	9	368	0.0245	220	c.136 others(239): Show c.1366+4101_1366+4102insTGTGGGGAAGGACTGAGGGGAAGAGC CCCAGGTCTCGGGAGGACCACCAGGAGCTCACGGGGAAGGATTGAGGGGA AGAGCCCCGGGTCTCGGGAGGACCACCAGGAGCTCACGGGGAAGGATTGA GGGGAAGAGCCCCAGGTCCCGGGAGGACCACCAGGAGCTCACGGGGAAGG ATTGAGGGGAAGAGCCCCGGGTCTCGGGAGGACCACCAGGAGCT	ACSF3	ENSG00000176715.17	transcript	ENST00000614302.5	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
ACSF3_chr16_89088852_89161233	89137343	T T	TCGGGAGG others(213): Show TCGGGAGGACCACCAGGAGCTCACGGGGAAGGATTGAGGGGAAGAGCCCC AGGTCCCGGGAGGACCACCAGGAGCTCACGGGGAAAGATTGAGGGGAAGA GCCCCAGGTCTCGGGAGGACCACCAGGAGCTCACGGGGAAAGATTGAGGG GAAGAGCCCCAGGTCTCGGGAGGACCACCAGGAGCTCACGGGGAAGGATT GAGGGGAAGAGCCCCAGGTCC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0324 a0001c0001t0001g0324	1	368	0.0027	220	c.136 others(239): Show c.1366+4165_1366+4166insAGATTGAGGGGAAGAGCCCCAGGTCT CGGGAGGACCACCAGGAGCTCACGGGGAAAGATTGAGGGGAAGAGCCCCA GGTCTCGGGAGGACCACCAGGAGCTCACGGGGAAGGATTGAGGGGAAGAG CCCCAGGTCCCGGGAGGACCACCAGGAGCTCACGGGGAAGGATTGAGGGG AAGAGCCCCAGGTCCCGGGAGGACCACCAGGAGCTCACGGGGAA	ACSF3	ENSG00000176715.17	transcript	ENST00000614302.5	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
ACSF3_chr16_89088852_89161233	89137373	G G	GGATTGAG others(213): Show GGATTGAGGGGAAGAGCCCCGGGTCTCGGGAGGACCACCAGGAGCTCACG GGGAAGGATTGAGGGGAAGAGCCCCAGGTCCCGGGAGGACCACCAGGAGC TCACGGGGAAGGATTGAGGGGAAGAGCCCCAGGTCTCGGGAGGACCACCA GGAGCTCACGGGGAAAGATTGAGGGGAAGAGCCCCAGGTCTCGGGAGGAC CACCAGGAGCTCACGGGGAAA	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG03239.hp1 HG01516.hp2 HG03239.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0008 a0002c0011t0008	a0002c0011t0008g0128 a0002c0011t0008g0131 a0002c0011t0008g0128 a0002c0011t0008g0131	2	368	0.0054	220	c.136 others(239): Show c.1366+4130_1366+4131insGGGTCTCGGGAGGACCACCAGGAGCT CACGGGGAAGGATTGAGGGGAAGAGCCCCAGGTCCCGGGAGGACCACCAG GAGCTCACGGGGAAGGATTGAGGGGAAGAGCCCCAGGTCTCGGGAGGACC ACCAGGAGCTCACGGGGAAAGATTGAGGGGAAGAGCCCCAGGTCTCGGGA GGACCACCAGGAGCTCACGGGGAAAGATTGAGGGGAAGAGCCCC	ACSF3	ENSG00000176715.17	transcript	ENST00000614302.5	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
ACTN4_chr19_38642649_38736589	38735727	G G	GGGGGCGG others(213): Show GGGGGCGGGGCGGGGCGGGGGTTCTGGGGGCGGGGCGGGGCGGGGGTTCT GGGGGCGGGGCGGGGGTTCTGGGGGCGGGGCGGGGCGGGGCGGTGGTTCT GCGGGCGGGGCGGGGCGGGGCGGGGCGGGGGTTCTGGGGGCGGGGCGGGG CGGGGGTTCTGGGGGCGGGGCGGGGCGGGGGTTCTGGGGGCGGGGCGGGG CGGGGCGGGGGTTCTGGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01069.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0024 a0001c0001t0002 a0001c0001t0024	a0001c0001t0002g0091 a0001c0001t0024g0092 a0001c0001t0002g0091 a0001c0001t0024g0092	2	314	0.0064	220	c.62 others(231): Show c.6295_*6296insGGGGCGGGGCGGGGCGGGGGTTCTGGGGGCGGGG CGGGGCGGGGGTTCTGGGGGCGGGGCGGGGGTTCTGGGGGCGGGGCGGGG CGGGGCGGTGGTTCTGCGGGCGGGGCGGGGCGGGGCGGGGCGGGGGTTCT GGGGGCGGGGCGGGGCGGGGGTTCTGGGGGCGGGGCGGGGCGGGGGTTCT GGGGGCGGGGCGGGGCGGGGCGGGGGTTCTGGGGGC	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4139		chr19	TogoVar
ACTRT2_chr1_3016467_3027903	3016487	G G	GGGCAGGG others(213): Show GGGCAGGGTGGAGGAAGGGGAGAGGAAGGGAAAGAGGGAGGGAGGGGAGA GGAAGGGAATGAGGGAGGGAGAAAGGAGAGAGGAAGGGAAGGAGGGATGG AGGAGGGAGGAAGGGAAGGAGAGAGGGACGGAGGGAGGAGGGAGGAAGGG AAGGAGGGAGGGAGGGAGGAGGGAGGGAGGAGGGAGGAAGGGAAGGAGGG AGGGAGGAGGGAGGAAGGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	366	0.0027	220	c.-52 others(231): Show c.-5200_-5199insGGCAGGGTGGAGGAAGGGGAGAGGAAGGGAAAGA GGGAGGGAGGGGAGAGGAAGGGAATGAGGGAGGGAGAAAGGAGAGAGGAA GGGAAGGAGGGATGGAGGAGGGAGGAAGGGAAGGAGAGAGGGACGGAGGG AGGAGGGAGGAAGGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGAGGGA GGAAGGGAAGGAGGGAGGGAGGAGGGAGGAAGGGAA	ACTRT2	ENSG00000169717.7	transcript	ENST00000378404.4	protein_coding		4979		chr1	TogoVar
ADAM9_chr8_38991973_39110261	39045473	C C	CACACACC others(213): Show CACACACCTATATGTGCGTGTGTGTACACACACCTATATGTGCGTGTGTG TACACACACCTATATGTGCGTGTGTGTACACACCTATATGTGCGTGTGTG TACACACCTATATGTGCGTGTGTGTACACACCTATATGTGCGTGTGTGTA CACACCTATATGTGCGTGTGTGTACACACCTATATGTGCGTGTGTGTACA CACCTATATGTGCGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0239	1	332	0.0030	220	c.130 others(239): Show c.1302+3378_1302+3379insGTACACACACCTATATGTGCGTGTGT GTACACACACCTATATGTGCGTGTGTGTACACACCTATATGTGCGTGTGT GTACACACCTATATGTGCGTGTGTGTACACACCTATATGTGCGTGTGTGT ACACACCTATATGTGCGTGTGTGTACACACCTATATGTGCGTGTGTGTAC ACACCTATATGTGCGTGTGTGTACACACCTATATGTGCGTGTGT	ADAM9	ENSG00000168615.13	transcript	ENST00000487273.7	protein_coding	12/21		INFO_REALIGN_3_PRIME	chr8	TogoVar
ADARB2_chr10_1172313_1742525	1212699	T T	TGTGGCAG others(213): Show TGTGGCAGGCACCCTGCAGCCAAGTGGCCCTGAGTCCACCTCACCGTGGC AGGCACCCTGCAGCCAAGTGGCCCTGAGTCCACCTCACCGTGGCAGGCAC CCTGCAACCAAGTGGCCCTGAGTCCACCCCACCGTGGCAGGCACCCTGCA GCTGAGAGGCCCTGAGTGCACCTCACTGTGGCAGGCACCCTGCAGCCAAG TGGCCCTGAGTCCACCTCACC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01433.hp2 HG01934.hp1 others(20): Show HG01243.hp1 HG01433.hp2 HG01934.hp1 HG02040.hp2 HG02109.hp1 HG02602.hp2 HG02683.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02970.hp2 HG03041.hp1 HG04184.hp1 NA18522.hp2 NA18984.hp2 NA18988.hp2 NA18989.hp1 NA18995.hp1 NA18998.hp2 NA19011.hp1 NA19086.hp2 NA20805.hp2 NA21309.hp1	a0001 a0002 a0009 others(1): Show a0001 a0002 a0009 a0011	a0001c0001 a0001c0003 a0002c0002 others(2): Show a0001c0001 a0001c0003 a0002c0002 a0009c0015 a0011c0011	a0001c0001t0003 a0001c0001t0009 a0001c0001t0011 others(15): Show a0001c0001t0003 a0001c0001t0009 a0001c0001t0011 a0001c0001t0018 a0001c0001t0022 a0001c0001t0035 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0003t0009 a0001c0003t0032 a0001c0003t0039 a0002c0002t0002 a0002c0002t0004 a0002c0002t0006 a0009c0015t0014 a0011c0011t0034	a0001c0001t0003g0085 a0001c0001t0003g0094 a0001c0001t0003g0097 others(20): Show a0001c0001t0003g0085 a0001c0001t0003g0094 a0001c0001t0003g0097 a0001c0001t0009g0054 a0001c0001t0009g0055 a0001c0001t0011g0017 a0001c0001t0011g0026 a0001c0001t0018g0027 a0001c0001t0022g0015 a0001c0001t0035g0079 a0001c0001t0056g0081 a0001c0001t0057g0103 a0001c0001t0058g0099 a0001c0001t0059g0092 a0001c0003t0009g0046 a0001c0003t0032g0071 a0001c0003t0039g0044 a0002c0002t0002g0066 a0002c0002t0002g0067 a0002c0002t0004g0101 a0002c0002t0006g0018 a0009c0015t0014g0008 a0011c0011t0034g0076	23	106	0.2170	220	c.168 others(239): Show c.1682+4251_1682+4252insGGTGAGGTGGACTCAGGGCCACTTGG CTGCAGGGTGCCTGCCACAGTGAGGTGCACTCAGGGCCTCTCAGCTGCAG GGTGCCTGCCACGGTGGGGTGGACTCAGGGCCACTTGGTTGCAGGGTGCC TGCCACGGTGAGGTGGACTCAGGGCCACTTGGCTGCAGGGTGCCTGCCAC GGTGAGGTGGACTCAGGGCCACTTGGCTGCAGGGTGCCTGCCAC	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	7/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1212699	T T	TGTGGCAG others(213): Show TGTGGCAGGCACCCTGCAGCCAAGTGGCCCTGAGTCCACCTCACCGTGGC AGGCATCCTGCAGCCAAGTGGCCCTGAGTCCACCTCACCGTGGCAGGCAC CCTGCAACCAAGTGGCCCTGAGTCCACCCCACCGTGGCAGGCACCCTGCA GCTGAGAGGCCCTGAGTGCACCTCACTGTGGCAGGCACCCTGCAGCCAAG TGGCCCTGAGTCCACCTCACC	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18982.hp2 NA18989.hp2 NA18945.hp2 NA18982.hp2 NA18989.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0062 a0001c0001t0003 a0002c0002t0062	a0001c0001t0003g0098 a0001c0001t0003g0102 a0002c0002t0062g0093 a0001c0001t0003g0098 a0001c0001t0003g0102 a0002c0002t0062g0093	3	106	0.0283	220	c.168 others(239): Show c.1682+4251_1682+4252insGGTGAGGTGGACTCAGGGCCACTTGG CTGCAGGGTGCCTGCCACAGTGAGGTGCACTCAGGGCCTCTCAGCTGCAG GGTGCCTGCCACGGTGGGGTGGACTCAGGGCCACTTGGTTGCAGGGTGCC TGCCACGGTGAGGTGGACTCAGGGCCACTTGGCTGCAGGATGCCTGCCAC GGTGAGGTGGACTCAGGGCCACTTGGCTGCAGGGTGCCTGCCAC	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	7/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1542802	C C	CCCAGACC others(213): Show CCCAGACCCCACTCAGACGCAGTTCAGACCCTGGATCACAGCCGTCCAGA CCCCACTCAGACGCAGTTCAGACCCTGGATCACAGCCGTCCAGACCCCAC TCAGACGCAGTTCAGACCCTGGATCACAGCCGCCCAGACCCCACTCAGAT GTAGTTCAGACCCTGGATCACAGCCGCCCAGACCCCACTCAGATGTAGTT CAGACCCTGGATCACAGCCGT	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0028 a0002c0004t0028	a0002c0004t0028g0020 a0002c0004t0028g0020	1	106	0.0094	220	c.101 others(241): Show c.101-163643_101-163642insACGGCTGTGATCCAGGGTCTGAAC TACATCTGAGTGGGGTCTGGGCGGCTGTGATCCAGGGTCTGAACTACATC TGAGTGGGGTCTGGGCGGCTGTGATCCAGGGTCTGAACTGCGTCTGAGTG GGGTCTGGACGGCTGTGATCCAGGGTCTGAACTGCGTCTGAGTGGGGTCT GGACGGCTGTGATCCAGGGTCTGAACTGCGTCTGAGTGGGGTCTGG	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ADCY2_chr5_7391138_7835081	7741735	C C	CATCACAA others(213): Show CATCACAATCTCAATCAGCATCACCATCATCATCACCATCATCACCATCA CCATCCTCATTATCATCATCACCATCACCATCATCATCACCATCACCATA ACCATCCCTATCACCATCACCATCATCACCAACACCATCACCTATCATCA CCTTCATCACCATCACCATCCTCATCCTCATCATCATCACCATCACCATC ATCATCCCCATAACCATCCCT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0014 a0002c0002t0014	a0002c0002t0014g0091 a0002c0002t0014g0091	1	140	0.0071	220	c.187 others(239): Show c.1872-1928_1872-1927insAATCTCAATCAGCATCACCATCATCA TCACCATCATCACCATCACCATCCTCATTATCATCATCACCATCACCATC ATCATCACCATCACCATAACCATCCCTATCACCATCACCATCATCACCAA CACCATCACCTATCATCACCTTCATCACCATCACCATCCTCATCCTCATC ATCATCACCATCACCATCATCATCCCCATAACCATCCCTATCAC	ADCY2	ENSG00000078295.17	transcript	ENST00000338316.9	protein_coding	14/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADCY2_chr5_7391138_7835081	7741735	C C	CATCACCA others(213): Show CATCACCATCACAATCTCAATCAGCATCACCATCATCATCACCATCATCA CCATCACCATCCTCATTATCATCATCACCATCATCATCACCATCACCATA ACCATCCCTATCACCATCACCATCATCACCAACACCATCACCTATCATCA CCTTCATCACCATCACCATCCTCATCCTCATCATCATCACCATCACCATC ATCATCCCCATAACCATCCCT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00597.hp1 others(130): Show HG00323.hp1 HG00323.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01257.hp1 HG01257.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01952.hp1 HG01952.hp2 HG01981.hp1 HG01981.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18954.hp1 NA18954.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007	a0001c0001 a0001c0005 a0001c0006 others(27): Show a0001c0001 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0010 a0001c0013 a0001c0014 a0001c0015 a0001c0018 a0001c0021 a0001c0024 a0001c0025 a0001c0026 a0002c0002 a0002c0003 a0002c0004 a0002c0008 a0002c0012 a0002c0019 a0002c0022 a0003c0011 a0003c0028 a0003c0029 a0004c0016 a0004c0027 a0004c0030 a0005c0023 a0006c0020 a0007c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(64): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0013 a0001c0001t0016 a0001c0001t0018 a0001c0005t0001 a0001c0006t0001 a0001c0006t0002 a0001c0006t0004 a0001c0007t0001 a0001c0007t0004 a0001c0007t0006 a0001c0009t0002 a0001c0009t0003 a0001c0010t0001 a0001c0010t0002 a0001c0013t0001 a0001c0013t0002 a0001c0013t0005 a0001c0014t0003 a0001c0014t0019 a0001c0015t0003 a0001c0018t0001 a0001c0021t0010 a0001c0024t0002 a0001c0025t0004 a0001c0026t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 a0002c0002t0015 a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0004 a0002c0003t0005 a0002c0003t0008 a0002c0003t0010 a0002c0003t0011 a0002c0003t0020 a0002c0004t0001 a0002c0004t0003 a0002c0004t0006 a0002c0004t0007 a0002c0004t0017 a0002c0008t0001 a0002c0008t0009 a0002c0012t0001 a0002c0012t0002 a0002c0019t0006 a0002c0022t0001 a0003c0011t0002 a0003c0011t0005 a0003c0011t0012 a0003c0028t0012 a0003c0029t0001 a0004c0016t0008 a0004c0027t0001 a0004c0030t0002 a0005c0023t0001 a0006c0020t0001 a0007c0017t0004	a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0034 others(130): Show a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0063 a0001c0001t0001g0079 a0001c0001t0001g0111 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0131 a0001c0001t0002g0032 a0001c0001t0002g0059 a0001c0001t0002g0106 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0129 a0001c0001t0003g0005 a0001c0001t0003g0071 a0001c0001t0003g0107 a0001c0001t0004g0101 a0001c0001t0006g0051 a0001c0001t0007g0010 a0001c0001t0007g0077 a0001c0001t0010g0007 a0001c0001t0013g0074 a0001c0001t0016g0085 a0001c0001t0018g0044 a0001c0005t0001g0061 a0001c0005t0001g0065 a0001c0005t0001g0068 a0001c0005t0001g0094 a0001c0005t0001g0095 a0001c0005t0001g0100 a0001c0005t0001g0117 a0001c0005t0001g0122 a0001c0006t0001g0020 a0001c0006t0001g0023 a0001c0006t0001g0064 a0001c0006t0001g0073 a0001c0006t0002g0090 a0001c0006t0004g0119 a0001c0007t0001g0038 a0001c0007t0004g0076 a0001c0007t0004g0103 a0001c0007t0006g0021 a0001c0007t0006g0089 a0001c0007t0006g0104 a0001c0009t0002g0009 a0001c0009t0003g0013 a0001c0009t0003g0019 a0001c0009t0003g0043 a0001c0010t0001g0050 a0001c0010t0002g0016 a0001c0010t0002g0058 a0001c0010t0002g0066 a0001c0013t0001g0078 a0001c0013t0002g0082 a0001c0013t0005g0081 a0001c0014t0003g0015 a0001c0014t0019g0139 a0001c0015t0003g0011 a0001c0015t0003g0127 a0001c0018t0001g0120 a0001c0021t0010g0098 a0001c0024t0002g0124 a0001c0025t0004g0110 a0001c0026t0004g0002 a0002c0002t0001g0052 a0002c0002t0001g0109 a0002c0002t0002g0049 a0002c0002t0002g0056 a0002c0002t0002g0057 a0002c0002t0002g0062 a0002c0002t0002g0086 a0002c0002t0002g0099 a0002c0002t0002g0112 a0002c0002t0002g0130 a0002c0002t0005g0045 a0002c0002t0005g0092 a0002c0002t0015g0018 a0002c0003t0001g0022 a0002c0003t0001g0072 a0002c0003t0001g0128 a0002c0003t0002g0075 a0002c0003t0002g0080 a0002c0003t0003g0113 a0002c0003t0004g0003 a0002c0003t0005g0001 a0002c0003t0005g0040 a0002c0003t0005g0097 a0002c0003t0008g0133 a0002c0003t0008g0136 a0002c0003t0010g0084 a0002c0003t0011g0069 a0002c0003t0011g0070 a0002c0003t0011g0093 a0002c0003t0020g0132 a0002c0004t0001g0027 a0002c0004t0001g0039 a0002c0004t0001g0041 a0002c0004t0001g0053 a0002c0004t0001g0108 a0002c0004t0003g0046 a0002c0004t0006g0028 a0002c0004t0007g0105 a0002c0004t0017g0125 a0002c0008t0001g0088 a0002c0008t0001g0118 a0002c0008t0009g0030 a0002c0008t0009g0031 a0002c0008t0009g0033 a0002c0012t0001g0037 a0002c0012t0001g0060 a0002c0012t0002g0067 a0002c0019t0006g0042 a0002c0022t0001g0114 a0003c0011t0002g0025 a0003c0011t0005g0014 a0003c0011t0005g0029 a0003c0011t0012g0138 a0003c0028t0012g0134 a0003c0029t0001g0140 a0004c0016t0008g0135 a0004c0016t0008g0137 a0004c0027t0001g0087 a0004c0030t0002g0096 a0005c0023t0001g0054 a0006c0020t0001g0017 a0007c0017t0004g0024	133	140	0.9500	220	c.187 others(239): Show c.1872-1922_1872-1921insAATCTCAATCAGCATCACCATCATCA TCACCATCATCACCATCACCATCCTCATTATCATCATCACCATCATCATC ACCATCACCATAACCATCCCTATCACCATCACCATCATCACCAACACCAT CACCTATCATCACCTTCATCACCATCACCATCCTCATCCTCATCATCATC ACCATCACCATCATCATCCCCATAACCATCCCTATCACCATCAC	ADCY2	ENSG00000078295.17	transcript	ENST00000338316.9	protein_coding	14/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADGRE2_chr19_14727392_14783560	14774674	T T	TTTTCTTT others(213): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0009 a0001c0001t0006g0009	1	218	0.0046	220	c.32- others(233): Show c.32-369_32-368insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	ADGRE2	ENSG00000127507.18	transcript	ENST00000315576.8	protein_coding	2/20			chr19	TogoVar
ADGRE3_chr19_14614117_14679844	14620388	A A	ACATGTAT others(213): Show ACATGTATATATGAATATATATGTATATTCATGTATATATGAATATATAT GTATATTCATGTATATATGAATATATATGTATATTCATGTATATATGAAT ATATATGTATATTCATGTATATATGAATATATATGTATATTCATGTATAT ATGAATATATGTATATTCATGTATATATGAATATATGTATATTCATGTAT ATATGAATATATATGTATATT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	372	0.0027	220	c.192 others(237): Show c.1921-918_1921-917insAATATACATATATATTCATATATACATG AATATACATATATTCATATATACATGAATATACATATATTCATATATACA TGAATATACATATATATTCATATATACATGAATATACATATATATTCATA TATACATGAATATACATATATATTCATATATACATGAATATACATATATA TTCATATATACATGAATATACATATATATTCATATATACATG	ADGRE3	ENSG00000131355.15	transcript	ENST00000253673.6	protein_coding	15/15			chr19	TogoVar
ADGRL4_chr1_78884764_79011730	79001176	G G	GAGGGGGG others(213): Show GAGGGGGGGAGGGAGGGAGGAAGGAAGGAAGGGAGGGAGGAAGGGAGAGA GGGAGGGAGGGAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGGAGGAAGG GAGAGGGGGGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGAAGGGAGGGAG GAAGGGAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGAAGGA AGGAAGGGAGAGAGGGGGGGA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0136 a0001c0001t0017g0136	1	390	0.0026	220	c.172 others(237): Show c.172+3893_172+3894insTCCCCCCCTCTCTCCCTTCCTTCCTTCC TTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCTCTCCCTTCCTCCCTC CCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCCCCCCTCTCCCTTCCT CCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCTCTCC CTTCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCCCCCCT	ADGRL4	ENSG00000162618.15	transcript	ENST00000370742.4	protein_coding	2/14			chr1	TogoVar
AFF2_chrX_148495617_149005663	148581390	A A	ATACGTGT others(213): Show ATACGTGTACACACATATACACGTATACGTGTACACACATATACACGTAT ACGTGTACACACATATACACGTATACGTGTACACACATATACACGTATAC GTGTACACACATATACACGTATACGTGTACACACATATACACGTCTACGT GTACACACATATACACGTCTACGTGTACACACATATACACGTATACGTCT ACGTGTACACACATATACACG	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0083 a0001c0001t0033g0083	1	169	0.0059	220	c.48- others(237): Show c.48-70607_48-70606insCGTGTACACACATATACACGTATACGTG TACACACATATACACGTATACGTGTACACACATATACACGTATACGTGTA CACACATATACACGTATACGTGTACACACATATACACGTATACGTGTACA CACATATACACGTCTACGTGTACACACATATACACGTCTACGTGTACACA CATATACACGTATACGTCTACGTGTACACACATATACACGTA	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AHCYL1_chr1_109979765_110028742	110005957	C C	CTTTTTTT others(213): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGC TCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCTTG	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	350	0.0029	220	c.121 others(237): Show c.121-3074_121-3073insTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAA TCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCC TCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCGCGCCCGGCT AATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTT	AHCYL1	ENSG00000168710.18	transcript	ENST00000369799.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
AHCYL2_chr7_129220030_129435211	129331679	T T	TAAAAATA others(213): Show TAAAAATACAAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCC CAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGG AGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAG AGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0272 a0001c0002t0003g0272	1	292	0.0034	220	c.364 others(239): Show c.364-47946_364-47945insAAATTAGCCGGGCGTAGTGGCGGGCG CCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACC CGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCC TGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATACAAAAA	AHCYL2	ENSG00000158467.17	transcript	ENST00000325006.8	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
AK5_chr1_77277019_77564966	77367803	T T	TGTTATAT others(213): Show TGTTATATATTATATATAATATATGTTATATATTATATATAATATATGTT ATATATTATATATAATATATGTTATATATTATATATAATATATGTTATAT ATTATATATAATATATGTTATATATTATATATAACATATGTTATATATTA TATATAACATATGTTATATATATTATATATTATATGTTATATATATTATA TATAACATATGTTATATATAA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02896.hp2 HG02809.hp1 HG02896.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0016 a0002c0002t0016	a0002c0002t0016g0126 a0002c0002t0016g0127 a0002c0002t0016g0126 a0002c0002t0016g0127	2	284	0.0070	220	c.891 others(239): Show c.891+27235_891+27236insGTTATATATTATATATAATATATGTT ATATATTATATATAATATATGTTATATATTATATATAATATATGTTATAT ATTATATATAATATATGTTATATATTATATATAATATATGTTATATATTA TATATAACATATGTTATATATTATATATAACATATGTTATATATATTATA TATTATATGTTATATATATTATATATAACATATGTTATATATAA	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	6/13			chr1	TogoVar
AMFR_chr16_56356452_56430545	56406060	G G	GGGGGAGA others(213): Show GGGGGAGAGGGGAGAGGGGGAGAGGGGGAGAGGGGGAGAGGGGGGAGAGG GGGGAGAGGGGGGAGAGGGGGGAGAGGGGGGGAGAGGGGGGAGAGGGGGA AGGGGGAGGGGAGGGGGAGAGGGGGGAGAGGGGGAAGGGGGGAGGGGAGG GGGAGAGGGGGAGGGGAGGGGGAGAGGGGGGAGGGGGAGAGGGGAGAGAG AAGGGAGGGGGGGAGGGGAGA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0035 a0001c0009t0035	a0001c0009t0035g0135 a0001c0009t0035g0135	1	356	0.0028	220	c.667 others(235): Show c.667-817_667-816insTCTCCCCTCCCCCCCTCCCTTCTCTCTCCC CTCTCCCCCTCCCCCCTCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCTC CCCCCTTCCCCCTCTCCCCCCTCTCCCCCTCCCCTCCCCCTTCCCCCTCT CCCCCCTCTCCCCCCCTCTCCCCCCTCTCCCCCCTCTCCCCCCTCTCCCC CCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCTCTCCCC	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	4/13			chr16	TogoVar
ANKRD11_chr16_89262630_89495561	89306410	T T	TCCCACTC others(213): Show TCCCACTCCGCAGACACGCGCCACCCACCTCCCACTCCGCAGACACGCGC CACCCACCTCCCACTCCGCAGACACGCGCCACCCACCTCCCACTCCGCAG ACACGCGCCACCTCCCACTCCGCAGACACGCGCCACCTACCTCCCACTCC GCAGACACGCGCCACCTACCTCCCACTCCGCAGACACGCGCCACCTACCT CCCACTCTGCAGACACGCGCC	intron_variant intron_variant	MODIFIER	HG00280.hp2 NA18612.hp2 NA18953.hp1 others(2): Show HG00280.hp2 NA18612.hp2 NA18953.hp1 NA18956.hp1 NA18975.hp2	a0001 a0028 a0001 a0028	a0001c0001 a0028c0050 a0001c0001 a0028c0050	a0001c0001t0001 a0028c0050t0001 a0001c0001t0001 a0028c0050t0001	a0001c0001t0001g0025 a0001c0001t0001g0040 a0001c0001t0001g0041 others(2): Show a0001c0001t0001g0025 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0069 a0028c0050t0001g0067	5	310	0.0161	220	c.88- others(235): Show c.88-1067_88-1066insGGCGCGTGTCTGCAGAGTGGGAGGTAGGTG GCGCGTGTCTGCGGAGTGGGAGGTAGGTGGCGCGTGTCTGCGGAGTGGGA GGTAGGTGGCGCGTGTCTGCGGAGTGGGAGGTGGCGCGTGTCTGCGGAGT GGGAGGTGGGTGGCGCGTGTCTGCGGAGTGGGAGGTGGGTGGCGCGTGTC TGCGGAGTGGGAGGTGGGTGGCGCGTGTCTGCGGAGTGGG	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	3/12			chr16	TogoVar
ANO7_chr2_241183677_241230976	241218126	G G	GGGCGGGG others(213): Show GGGCGGGGGGGCAGCGGGGGCGCGCAGGGGCGGGCCGGGGGCAGCGGGGG CGCGCAGGGGCGGGGCGGGGGGCAGCGGGGGCGCGTAGGGACGGGGCGGG GGGGGCAGCGGGGGCGCGCAGGGGCGGGGCGGGGGGCAGCGGGGGCGCGC AGGGGCGGAGCGGGGGCGCGCAGGGGCGGGGCGGGGGGCAGCGGGGGCGC GCAGGGGCGGGGGCGGGGGGC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0157 a0001c0001t0008g0157	1	396	0.0025	220	c.217 others(237): Show c.2179-113_2179-112insGGCGGGGGGGCAGCGGGGGCGCGCAGGG GCGGGCCGGGGGCAGCGGGGGCGCGCAGGGGCGGGGCGGGGGGCAGCGGG GGCGCGTAGGGACGGGGCGGGGGGGGCAGCGGGGGCGCGCAGGGGCGGGG CGGGGGGCAGCGGGGGCGCGCAGGGGCGGAGCGGGGGCGCGCAGGGGCGG GGCGGGGGGCAGCGGGGGCGCGCAGGGGCGGGGGCGGGGGGC	ANO7	ENSG00000146205.15	transcript	ENST00000674324.2	protein_coding	20/24			chr2	TogoVar
ANXA2R_chr5_43034371_43045319	43043792	T T	TATAATAT others(213): Show TATAATATATATAATATATTATATAATATATAATATATATAATATATTAT ATAATATATAATATATATAATATATTATATAATATATAATATATATAATA TATTATATAATATATAATATATATAATATATTATATAATATATAATATAT ATAATATATTATATAATATATAATATATATAATATATTATATAATATATA ATATATATAATATATTATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	296	0.0034	220	c.-37 others(231): Show c.-3747_-3746insTATATAATATATTATATATATTATATATTATATA ATATATTATATATATTATATATTATATAATATATTATATATATTATATAT TATATAATATATTATATATATTATATATTATATAATATATTATATATATT ATATATTATATAATATATTATATATATTATATATTATATAATATATTATA TATATTATATATTATATAATATATTATATATATTAT	ANXA2R	ENSG00000177721.5	transcript	ENST00000616064.2	protein_coding		3474		chr5	TogoVar
ARHGAP10_chr4_147727088_148077776	147784805	T T	TATTATAA others(213): Show TATTATAAAATATATATTATAAATATATTATAAAATATATATTATAAATA TATTATAAAATATATATTATAAATATATTATAAAATATATATTATAAATA TATTATAAAATATATATTATAAATATATTATAAAATATATATTATAAATA TATTATAAAATATATATTATAAATATATTATAAAATATATATTATAAATA TATTATAAAATATATATTATA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0005 a0001c0002t0001g0005	1	106	0.0094	220	c.155 others(239): Show c.155-37921_155-37920insTTATAAAATATATATTATAAATATAT TATAAAATATATATTATAAATATATTATAAAATATATATTATAAATATAT TATAAAATATATATTATAAATATATTATAAAATATATATTATAAATATAT TATAAAATATATATTATAAATATATTATAAAATATATATTATAAATATAT TATAAAATATATATTATAAATATATTATAAAATATATATTATAA	ARHGAP10	ENSG00000071205.12	transcript	ENST00000336498.8	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr4	TogoVar
ARHGAP42_chr11_100682288_100998941	100813144	G G	GTGTCATT others(213): Show GTGTCATTGGTAGGACAAATGTGTAAGACAAGGGTCCATTCTTCAGATGC TGAGTTATTGACGGAGATGCATGTACATAACGTCAGTGATGTAGGATGTG ATGGGTGCTAGAAGAGGCACACAGGCAGACTGTTACCCAAGTTCAGAGGA GGGAGGAGTTACTTCTAGCTGGAGGAATTTGGAAAGACTTAGTGGAGGAT ATAGCCTCTGCTATCAGCTCT	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	286	0.0035	220	c.312 others(239): Show c.312+17978_312+17979insTGTCATTGGTAGGACAAATGTGTAAG ACAAGGGTCCATTCTTCAGATGCTGAGTTATTGACGGAGATGCATGTACA TAACGTCAGTGATGTAGGATGTGATGGGTGCTAGAAGAGGCACACAGGCA GACTGTTACCCAAGTTCAGAGGAGGGAGGAGTTACTTCTAGCTGGAGGAA TTTGGAAAGACTTAGTGGAGGATATAGCCTCTGCTATCAGCTCT	ARHGAP42	ENSG00000165895.19	transcript	ENST00000298815.13	protein_coding	3/23			chr11	TogoVar
ARHGDIG_chr16_275591_288010	285909	C C	CCCAACCC others(213): Show CCCAACCCCAACCCCAACCCCAACCCCAACCCCAACCCCAACCCCAACCC CGCGGTTCTCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTC CCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAA CCCCAACCCCGCGGTTCTCCCAACCCCGCGGTTCTCCCAACCCCAACCCC GCGGTTCTCCCAACCCCAACA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	442	0.0023	220	c.30 others(231): Show c.3095_*3096insCCAACCCCAACCCCAACCCCAACCCCAACCCCAA CCCCAACCCCAACCCCGCGGTTCTCCCAACCCCGCGGTTCTCCCAACCCC AACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACC CCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCCGCGGTTCT CCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACA	ARHGDIG	ENSG00000242173.10	transcript	ENST00000219409.8	protein_coding		2900		chr16	TogoVar
ARHGEF10_chr8_1818926_1963641	1849936	G G	GCGTGGAC others(213): Show GCGTGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCATGG ACACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCATGGACACAG AGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCGTGGACACAGAGGGCA AATGCTGAGGAGGGCGTGGGCCGGCTGCATGGACACAGAGGGCAAATGCT GAGGAGGGTGTGGGGCGGCCA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0041 a0001c0041	a0001c0041t0007 a0001c0041t0007	a0001c0041t0007g0097 a0001c0041t0007g0097	1	363	0.0028	220	c.37+ others(235): Show c.37+6538_37+6757dupCCGGCTGCATGGACACAGAGGGCAAATGCT GAGGAGGGCGTGGGCCGGCTGCATGGACACAGAGGGCAAATGCTGAGGAG GGCGTGGGCCGGCTGCGTGGACACAGAGGGCAAATGCTGAGGAGGGCGTG GGCCGGCTGCATGGACACAGAGGGCAAATGCTGAGGAGGGTGTGGGGCGG CCACGTGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGG	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	2/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1849938	G G	GTGGACAC others(213): Show GTGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCATGGAC ACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCATGGACACAGAG GGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCATGGACACAGAGGGCAAA TGCTGAGGAGGGCGTGGGCCGGCTGCATGGACACAGAGGGCAAATGCTGA GGAGGGCGTGGGCCGGCTGCA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0004 a0001c0016t0004	a0001c0016t0004g0176 a0001c0016t0004g0176	1	363	0.0028	220	c.37+ others(235): Show c.37+6633_37+6634insATGGACACAGAGGGCAAATGCTGAGGAGGG CGTGGGCCGGCTGCATGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGG CCGGCTGCATGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCT GCATGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCATGG ACACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGC	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	2/28		INFO_REALIGN_3_PRIME	chr8	TogoVar

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