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
TNK2_chr3_195858364_195913551	195865089	G G	GTGCAAAT others(448): Show GTGCAAATCAGTAAGAACCACCCGAGACAGTGACAGACAGGTGACAGCGA GTGCCTGCGTCCCAGATGCAAATCAGTAAGAACCACCCGAGACAGTGACA GACAGGTGACAGCGAGTGCCTGCGTCCCAGATGCAAATCAGTAAGAACCA CCCGAGACAGTGACAGACAGGTGACAGCGAGTGCCTGCGTCCCAGGTGCA AATCAGTAAGAACCACCCGAGACAGTGACAGACAGGTGACAGCGAGTGCC TGCGTCCCGGGTGCAAATCAGTAAGAACCACCCGAGACAGTGACAGACAG GTGACAGCGAGTGCCTGCGTCCCGGGTGCAAATCAGTAAGAACCACCCGA GACAGTGACAGACAGGTGACACGGAGTGCCTGCGTCCCGGGTGCAAATCA GTAAGAACCACCCGAGACAGTGACAGACAGGTGACAGCGAGTGCCTGCGT CCCAGA	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA19058.hp2 NA19066.hp1 NA18963.hp2 NA19058.hp2 NA19066.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0069 a0001c0006t0001g0070 a0001c0006t0001g0083 a0001c0006t0001g0069 a0001c0006t0001g0070 a0001c0006t0001g0083	3	372	0.0081	455	c.316 others(472): Show c.3162-903_3162-902insTCTGGGACGCAGGCACTCGCTGTCACCT GTCTGTCACTGTCTCGGGTGGTTCTTACTGATTTGCACCCGGGACGCAGG CACTCCGTGTCACCTGTCTGTCACTGTCTCGGGTGGTTCTTACTGATTTG CACCCGGGACGCAGGCACTCGCTGTCACCTGTCTGTCACTGTCTCGGGTG GTTCTTACTGATTTGCACCCGGGACGCAGGCACTCGCTGTCACCTGTCTG TCACTGTCTCGGGTGGTTCTTACTGATTTGCACCTGGGACGCAGGCACTC GCTGTCACCTGTCTGTCACTGTCTCGGGTGGTTCTTACTGATTTGCATCT GGGACGCAGGCACTCGCTGTCACCTGTCTGTCACTGTCTCGGGTGGTTCT TACTGATTTGCATCTGGGACGCAGGCACTCGCTGTCACCTGTCTGTCACT GTCTCGGGTGGTTCTTACTGATTTGCA	TNK2	ENSG00000061938.21	transcript	ENST00000672887.2	protein_coding	15/15			chr3	TogoVar
TNK2_chr3_195858364_195913551	195865089	G G	GTGCAAAT others(448): Show GTGCAAATCAGTAAGAACCACCCGAGACAGTGACAGACAGGTGACAGCGA GTGCCTGCGTCCCAGATGCAAATCAGTAAGAACCACCCGAGACAGTGACA GACAGGTGACAGCGAGTGCCTGCGTCCCAGATGCAAATCAGTAAGAACCA CCTGAGACAGTGACAGACAGGTGACAGCGAGTGCCTGCGTCCCAGGTGCA AATCAGTAAGAACCACCCGAGACAGTGACAGACAGGTGACAGCGAGTGCC TGCGTCCCGGGTGCAAATCAGTAAGAACCACCCGAGACAGTGACAGACAG GTGACAGCGAGTGCCTGCGTCCCGGGTGCAAATCAGTAAGAACCACCCGA GACAGTGACAGACAGGTGACACGGAGTGCCTGCGTCCCGGGTGCAAATCA GTAAGAACCACCCGAGACAGTGACAGACAGGTGACAGCGAGTGCCTGCGT CCCAGA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00735.hp2 HG00741.hp2 others(19): Show HG00639.hp1 HG00735.hp2 HG00741.hp2 HG01167.hp1 HG01175.hp2 HG01243.hp1 HG01256.hp1 HG01261.hp2 HG01433.hp2 HG01884.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02735.hp1 HG02818.hp1 HG03490.hp2 HG03688.hp2 HG03834.hp2 HG06807.hp2 NA18949.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0011 a0017	a0001c0006 a0001c0011 a0001c0012 others(9): Show a0001c0006 a0001c0011 a0001c0012 a0002c0026 a0002c0067 a0002c0068 a0002c0072 a0002c0073 a0002c0074 a0003c0015 a0011c0076 a0017c0077	a0001c0006t0001 a0001c0006t0012 a0001c0011t0001 others(11): Show a0001c0006t0001 a0001c0006t0012 a0001c0011t0001 a0001c0012t0001 a0001c0012t0011 a0002c0026t0009 a0002c0067t0001 a0002c0068t0001 a0002c0072t0001 a0002c0073t0001 a0002c0074t0001 a0003c0015t0001 a0011c0076t0001 a0017c0077t0001	a0001c0006t0001g0087 a0001c0006t0001g0092 a0001c0006t0001g0097 others(19): Show a0001c0006t0001g0087 a0001c0006t0001g0092 a0001c0006t0001g0097 a0001c0006t0001g0098 a0001c0006t0001g0100 a0001c0006t0012g0065 a0001c0011t0001g0108 a0001c0012t0001g0067 a0001c0012t0001g0085 a0001c0012t0001g0088 a0001c0012t0011g0102 a0002c0026t0009g0099 a0002c0067t0001g0082 a0002c0068t0001g0063 a0002c0072t0001g0091 a0002c0073t0001g0068 a0002c0074t0001g0073 a0003c0015t0001g0020 a0003c0015t0001g0064 a0003c0015t0001g0080 a0011c0076t0001g0078 a0017c0077t0001g0086	22	372	0.0591	455	c.316 others(472): Show c.3162-903_3162-902insTCTGGGACGCAGGCACTCGCTGTCACCT GTCTGTCACTGTCTCGGGTGGTTCTTACTGATTTGCACCCGGGACGCAGG CACTCCGTGTCACCTGTCTGTCACTGTCTCGGGTGGTTCTTACTGATTTG CACCCGGGACGCAGGCACTCGCTGTCACCTGTCTGTCACTGTCTCGGGTG GTTCTTACTGATTTGCACCCGGGACGCAGGCACTCGCTGTCACCTGTCTG TCACTGTCTCGGGTGGTTCTTACTGATTTGCACCTGGGACGCAGGCACTC GCTGTCACCTGTCTGTCACTGTCTCAGGTGGTTCTTACTGATTTGCATCT GGGACGCAGGCACTCGCTGTCACCTGTCTGTCACTGTCTCGGGTGGTTCT TACTGATTTGCATCTGGGACGCAGGCACTCGCTGTCACCTGTCTGTCACT GTCTCGGGTGGTTCTTACTGATTTGCA	TNK2	ENSG00000061938.21	transcript	ENST00000672887.2	protein_coding	15/15			chr3	TogoVar
TNK2_chr3_195858364_195913551	195865089	G G	GTGCAAAT others(448): Show GTGCAAATCAGTAAGAACCACCCGAGACAGTGACAGACAGGTGACAGCGA GTGCCTGCGTCCCAGGTGCAAATCAGTAAGAACCACCCGAGACAGTGACA GACAGGTGACAGCGAGTGCCTGCGTCCCAGATGCAAATCAGTAAGAACCA CCTGAGACAGTGACAGACAGGTGACAGCGAGTGCCTGCGTCCCAGGTGCA AATCAGTAAGAACCACCCGAGACAGTGACAGACAGGTGACAGCGAGTGCC TGCGTCCCGGGTGCAAATCAGTAAGAACCACCCGAGACAGTGACAGACAG GTGACAGCGAGTGCCTGCGTCCCGGGTGCAAATCAGTAAGAACCACCCGA GACAGTGACAGACAGGTGACACGGAGTGCCTGCGTCCCGGGTGCAAATCA GTAAGAACCACCCGAGACAGTGACAGACAGGTGACAGCGAGTGCCTGCGT CCCAGA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0107 a0001c0011t0001g0107	1	372	0.0027	455	c.316 others(472): Show c.3162-903_3162-902insTCTGGGACGCAGGCACTCGCTGTCACCT GTCTGTCACTGTCTCGGGTGGTTCTTACTGATTTGCACCCGGGACGCAGG CACTCCGTGTCACCTGTCTGTCACTGTCTCGGGTGGTTCTTACTGATTTG CACCCGGGACGCAGGCACTCGCTGTCACCTGTCTGTCACTGTCTCGGGTG GTTCTTACTGATTTGCACCCGGGACGCAGGCACTCGCTGTCACCTGTCTG TCACTGTCTCGGGTGGTTCTTACTGATTTGCACCTGGGACGCAGGCACTC GCTGTCACCTGTCTGTCACTGTCTCAGGTGGTTCTTACTGATTTGCATCT GGGACGCAGGCACTCGCTGTCACCTGTCTGTCACTGTCTCGGGTGGTTCT TACTGATTTGCACCTGGGACGCAGGCACTCGCTGTCACCTGTCTGTCACT GTCTCGGGTGGTTCTTACTGATTTGCA	TNK2	ENSG00000061938.21	transcript	ENST00000672887.2	protein_coding	15/15			chr3	TogoVar
TNK2_chr3_195858364_195913551	195865162	C C	CAGTAAGA others(448): Show CAGTAAGAACCACCCGAGACAGTGACAGACAGGTGACAGCGAGTGCCTGC GTCCCAGATGCAAATCAGTAAGAACCACCTGAGACAGTGACAGACAGGTG ACAGCGAGTGCCTGCGTCCCAGGTGCAAATCAGTAAGAACCACCCGAGAC AGTGACAGACAGGTGACAGCGAGTGCCTGCGTCCCGGGTGCAAATCAGTA AGAACCACCCGAGACAGTGACAGACAGGTGACAGCGAGTGCCTGCGTCCC GGGTGCAAATCAGTAAGAACCACCCGAGACAGTGACAGACAGGTGACACG GAGTGCCTGCGTCCCGGGTGCAAATCAGTAAGAACCACCCGAGACAGTGA CAGACAGGTGACAGCGAGTGCCTGCGTCCCAGATGCAAATCAGTAAGAAC CACCCGAGACAGTGACAGACAGGTGACAGCGAGTGCCTGCGTCCCAGATG CAAATT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19043.hp2 NA19030.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0006 a0002c0026 a0001c0006 a0002c0026	a0001c0006t0001 a0002c0026t0001 a0001c0006t0001 a0002c0026t0001	a0001c0006t0001g0077 a0002c0026t0001g0074 a0001c0006t0001g0077 a0002c0026t0001g0074	2	372	0.0054	455	c.316 others(472): Show c.3162-976_3162-975insAATTTGCATCTGGGACGCAGGCACTCGC TGTCACCTGTCTGTCACTGTCTCGGGTGGTTCTTACTGATTTGCATCTGG GACGCAGGCACTCGCTGTCACCTGTCTGTCACTGTCTCGGGTGGTTCTTA CTGATTTGCACCCGGGACGCAGGCACTCCGTGTCACCTGTCTGTCACTGT CTCGGGTGGTTCTTACTGATTTGCACCCGGGACGCAGGCACTCGCTGTCA CCTGTCTGTCACTGTCTCGGGTGGTTCTTACTGATTTGCACCCGGGACGC AGGCACTCGCTGTCACCTGTCTGTCACTGTCTCGGGTGGTTCTTACTGAT TTGCACCTGGGACGCAGGCACTCGCTGTCACCTGTCTGTCACTGTCTCAG GTGGTTCTTACTGATTTGCATCTGGGACGCAGGCACTCGCTGTCACCTGT CTGTCACTGTCTCGGGTGGTTCTTACT	TNK2	ENSG00000061938.21	transcript	ENST00000672887.2	protein_coding	15/15			chr3	TogoVar
TNK2_chr3_195858364_195913551	195865241	C C	CGAGACAG others(448): Show CGAGACAGTGACAGACAGGTGACAGCGAGTGCCTGCGTCCCAGGTGCAAA TCAGTAAGAACCACCCGAGACAGTGACAGACAGGTGACAGCGAGTGCCTG CGTCCCGGGTGCAAATCAGTAAGAACCACCCGAGACAGTGACAGACAGGT GACAGCGAGTGCCTGCGTCCCGGGTGCAAATCAGTAAGAACCACCCGAGA CAGTGACAGACAGGTGACACGGAGTGCCTGCGTCCCGGGTGCAAATCAGT AAGAACCACCCGAGACAGTGACAGACAGGTGACAGCGAGTGCCTGCGTCC CAGATGCAAATCAGTAAGAACCACCCGAGACAGTGACAGACAGGTGACAG CGAGTGCCTGCGTCCCAGATGCAAATCAGTAAGAACCACCCGAGACAGTG ACAGACAGGTGACAGCGAGTGCCTGCGTCCCAGATGCAAATCAGTAAGAA CCACCT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG02155.hp1 HG02622.hp1 others(10): Show HG00140.hp1 HG02155.hp1 HG02622.hp1 HG02922.hp2 HG03130.hp2 HG03195.hp2 HG03225.hp2 HG03540.hp2 NA18940.hp1 NA18957.hp1 NA18961.hp1 NA18986.hp2 NA19070.hp1	a0001 a0002 a0016 a0001 a0002 a0016	a0001c0006 a0001c0011 a0001c0012 others(5): Show a0001c0006 a0001c0011 a0001c0012 a0001c0031 a0001c0061 a0001c0062 a0002c0060 a0016c0075	a0001c0006t0001 a0001c0011t0001 a0001c0012t0001 others(5): Show a0001c0006t0001 a0001c0011t0001 a0001c0012t0001 a0001c0031t0001 a0001c0061t0001 a0001c0062t0001 a0002c0060t0001 a0016c0075t0001	a0001c0006t0001g0061 a0001c0006t0001g0229 a0001c0011t0001g0060 others(10): Show a0001c0006t0001g0061 a0001c0006t0001g0229 a0001c0011t0001g0060 a0001c0011t0001g0081 a0001c0011t0001g0230 a0001c0011t0001g0231 a0001c0012t0001g0075 a0001c0031t0001g0089 a0001c0031t0001g0090 a0001c0061t0001g0238 a0001c0062t0001g0239 a0002c0060t0001g0240 a0016c0075t0001g0079	13	372	0.0350	455	c.316 others(474): Show c.3162-1055_3162-1054insAGGTGGTTCTTACTGATTTGCATCTG GGACGCAGGCACTCGCTGTCACCTGTCTGTCACTGTCTCGGGTGGTTCTT ACTGATTTGCATCTGGGACGCAGGCACTCGCTGTCACCTGTCTGTCACTG TCTCGGGTGGTTCTTACTGATTTGCATCTGGGACGCAGGCACTCGCTGTC ACCTGTCTGTCACTGTCTCGGGTGGTTCTTACTGATTTGCACCCGGGACG CAGGCACTCCGTGTCACCTGTCTGTCACTGTCTCGGGTGGTTCTTACTGA TTTGCACCCGGGACGCAGGCACTCGCTGTCACCTGTCTGTCACTGTCTCG GGTGGTTCTTACTGATTTGCACCCGGGACGCAGGCACTCGCTGTCACCTG TCTGTCACTGTCTCGGGTGGTTCTTACTGATTTGCACCTGGGACGCAGGC ACTCGCTGTCACCTGTCTGTCACTGTCTC	TNK2	ENSG00000061938.21	transcript	ENST00000672887.2	protein_coding	15/15			chr3	TogoVar
TNK2_chr3_195858364_195913551	195865241	C C	CGAGACAG others(448): Show CGAGACAGTGACAGACAGGTGACAGCGAGTGCCTGCGTCCCGGGTGCAAA TCAGTAAGAACCACCCGAGACAGTGACAGACAGGTGACAGCGAGTGCCTG CGTCCCGGGTGCAAATCAGTAAGAACCACCCGAGACAGTGACAGACAGGT GACAGCGAGTGCCTGCGTCCCGGGTGCAAATCAGTAAGAACCACCCGAGA CAGTGACAGACAGGTGACACGGAGTGCCTGCGTCCCGGGTGCAAATCAGT AAGAACCACCCGAGACAGTGACAGACAGGTGACAGCGAGTGCCTGCGTCC CAGATGCAAATCAGTAAGAACCACCCGAGACAGTGACAGACAGGTGACAG CGAGTGCCTGCGTCCCAGATGCAAATCAGTAAGAACCACCCGAGACAGTG ACAGACAGGTGACAGCGAGTGCCTGCGTCCCAGATGCAAATCAGTAAGAA CCACCT	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0071 a0001c0012t0001g0071	1	372	0.0027	455	c.316 others(474): Show c.3162-1055_3162-1054insAGGTGGTTCTTACTGATTTGCATCTG GGACGCAGGCACTCGCTGTCACCTGTCTGTCACTGTCTCGGGTGGTTCTT ACTGATTTGCATCTGGGACGCAGGCACTCGCTGTCACCTGTCTGTCACTG TCTCGGGTGGTTCTTACTGATTTGCATCTGGGACGCAGGCACTCGCTGTC ACCTGTCTGTCACTGTCTCGGGTGGTTCTTACTGATTTGCACCCGGGACG CAGGCACTCCGTGTCACCTGTCTGTCACTGTCTCGGGTGGTTCTTACTGA TTTGCACCCGGGACGCAGGCACTCGCTGTCACCTGTCTGTCACTGTCTCG GGTGGTTCTTACTGATTTGCACCCGGGACGCAGGCACTCGCTGTCACCTG TCTGTCACTGTCTCGGGTGGTTCTTACTGATTTGCACCCGGGACGCAGGC ACTCGCTGTCACCTGTCTGTCACTGTCTC	TNK2	ENSG00000061938.21	transcript	ENST00000672887.2	protein_coding	15/15			chr3	TogoVar
TOX_chr8_58800412_59124147	59092275	A A	ATATTATA others(448): Show ATATTATATATACATTATATATATTATATATTATATATACATTATATATA TTATATATTATATATACATTATATATATTATATATTATATATACATTATA TATATTATATATTATATATACATTATATATATTATATATTATATATACAT TATATATATTATATATTATATATACATTATATATATTATATATTATATAT ACATTATATATATTATATATTATATATACATTATATATATTATATATTAT ATATACATTATATATATTATATATTATATATACATTATATATATTATATA TTATATATACATTATATATATTATATATTATATATACATTATATATATTA TATATTATATATACATTATATATATTATATATTATATATACATTATATAT ATTATATATTATATATACATTATATATATTATATATTATATATACATTAT ATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0139 a0001c0001t0002g0139	1	224	0.0045	455	c.102 others(474): Show c.102+26610_102+26611insATATATATAATGTATATATAATATAT AATATATATAATGTATATATAATATATAATATATATAATGTATATATAAT ATATAATATATATAATGTATATATAATATATAATATATATAATGTATATA TAATATATAATATATATAATGTATATATAATATATAATATATATAATGTA TATATAATATATAATATATATAATGTATATATAATATATAATATATATAA TGTATATATAATATATAATATATATAATGTATATATAATATATAATATAT ATAATGTATATATAATATATAATATATATAATGTATATATAATATATAAT ATATATAATGTATATATAATATATAATATATATAATGTATATATAATATA TAATATATATAATGTATATATAATATATAATATATATAATGTATATATAA TATATAATATATATAATGTATATATAATA	TOX	ENSG00000198846.6	transcript	ENST00000361421.2	protein_coding	1/8			chr8	TogoVar
TP53AIP1_chr11_128930370_128947871	128930916	G G	GGGAGGCT others(448): Show GGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAG GCTGGGGTTAGGGAGGCCGGGGTTAGGGAGACCAGGGGTTAGGGAGGCCA GGGTAGGGAGGCTGGGGGTTAGGAAGGCTGGGGTTAGGGAGACCAAGGGT CAGGGAGGCCAGGGGTTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGG GAGGCTGGGGTTAGGGAGGCAGGGATTATGGAGGCAGGGATTATGGAGGC AGGGATTAGGGAGGCCAGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGG GTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAG GGAGGCCAGGGGTTAGGGAGGCCAGGGTTAGGGAGGCCGGGGTTAGGGAG GCCAGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGG GGTTAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01361.hp2 HG01069.hp1 HG01071.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0044 a0001c0001t0009g0114 a0001c0001t0009g0044 a0001c0001t0009g0114	3	466	0.0064	455	c.46 others(466): Show c.4674_*4675insTTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAA CCCCGGCCTCCCTAACCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCTG GCCTCCCTAACCCCTGGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCT CCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTA ACCCCTGGCCTCCCTAATCCCTGCCTCCATAATCCCTGCCTCCATAATCC CTGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCC TCCCTAACCCCTGGCCTCCCTGACCCTTGGTCTCCCTAACCCCAGCCTTC CTAACCCCCAGCCTCCCTACCCTGGCCTCCCTAACCCCTGGTCTCCCTAA CCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCA GCCTCCCTAACCCCAGCCTCC	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4453		chr11	TogoVar
TRAF6_chr11_36478769_36515272	36507507	G G	GTATTATA others(448): Show GTATTATACATACGTAAATGTATATATGTATATATACATGTATTATACAT ACGTAAATGTATATATGTATATATACATTATACATACGTAAATGTATATA TGTATATATACATTATACATACGTAAATGTATATATGTATATATACATTA TACATACGTAAATGTATAATGTATATATACATTATACATACGTAAATGTA TAATGTATATATACATTATACATACGTAAATGTATAATGTATATATACAT TATACATACGTAAATGTATAATGTATATATACATTATACATACGTAAATG TATGTATATATACATTATACATACGTAAATGTATTATACATAAATGTATA TATGTATATATACATGTATTATACATACATAAATGTATATATGTATATAT ACATGTATTATACATACATAAATGTATATATGTATATATACATGTATGCA CGTATA	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0068 a0001c0001t0050g0068	1	388	0.0026	455	c.-23 others(472): Show c.-23+2540_-23+2541insTATACGTGCATACATGTATATATACATA TATACATTTATGTATGTATAATACATGTATATATACATATATACATTTAT GTATGTATAATACATGTATATATACATATATACATTTATGTATAATACAT TTACGTATGTATAATGTATATATACATACATTTACGTATGTATAATGTAT ATATACATTATACATTTACGTATGTATAATGTATATATACATTATACATT TACGTATGTATAATGTATATATACATTATACATTTACGTATGTATAATGT ATATATACATTATACATTTACGTATGTATAATGTATATATACATATATAC ATTTACGTATGTATAATGTATATATACATATATACATTTACGTATGTATA ATGTATATATACATATATACATTTACGTATGTATAATACATGTATATATA CATATATACATTTACGTATGTATAATA	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TRIM49D2_chr11_89919064_89938063	89935283	T T	TGTATATT others(448): Show TGTATATTTATATTTTATATAAATATATAATATACAAATATTTGTATATT TATATTTTATATAAATATATAATATACAAATATTTGTATATTTATATTTT ATATAAAATATATAATATACAAATATTTGTATATTATATATTTTATATAA AATATATAATATACAAATATTTGTATATTATATATTTTATATAAAATATA TAATATACAAATATTTATATATTATATATTTTATATAAAATATATAATAT ACAAATATTTATATTTCATATAAAATATAAATATACAAATATTTATATTT CATATAAAATATAAATATACAAATATTTATATTTCATATAAAATATAAAT ATACAAATATTTATATTTCATATAAAATATAAATATACAAATATTTATAT TTCATATAAAATATAAATATACAAATATTTATATTTCATATAAAATATAA ATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0070 a0002c0006t0001g0070	1	256	0.0039	455	c.23 others(466): Show c.2398_*2399insGTATATTTATATTTTATATAAATATATAATATAC AAATATTTGTATATTTATATTTTATATAAATATATAATATACAAATATTT GTATATTTATATTTTATATAAAATATATAATATACAAATATTTGTATATT ATATATTTTATATAAAATATATAATATACAAATATTTGTATATTATATAT TTTATATAAAATATATAATATACAAATATTTATATATTATATATTTTATA TAAAATATATAATATACAAATATTTATATTTCATATAAAATATAAATATA CAAATATTTATATTTCATATAAAATATAAATATACAAATATTTATATTTC ATATAAAATATAAATATACAAATATTTATATTTCATATAAAATATAAATA TACAAATATTTATATTTCATATAAAATATAAATATACAAATATTTATATT TCATATAAAATATAAATATAC	TRIM49D2	ENSG00000233802.8	transcript	ENST00000623787.3	protein_coding		2221		chr11	TogoVar
TTC16_chr9_127711079_127736590	127720831	T T	TTCCCCCT others(448): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTT CCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCC CCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTC CTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTC CCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTT TCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCC TTCCTCCCTTCCCCCTTACCCCCTTCCTCCCTTCCCCCTTACCCCCTTCC TCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTT CCTTTC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	334	0.0030	455	c.657 others(470): Show c.657+440_657+441insCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CCTTCCTCCCTCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCT CCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTC CCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTC CTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTC CCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCT CCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCC TTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTACCCCCTTCCTCCCTTCC CCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTT CCTCCCTCCTCCTTTCCTTTCTCCC	TTC16	ENSG00000167094.16	transcript	ENST00000373289.4	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
TTC23_chr15_99131323_99254581	99171668	T T	TTCTCATG others(448): Show TTCTCATGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCGCAACACA ACACCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGT TGGCCAGGATGGTTTGATGGTCTCTATCTCTTGACCTCGTGATCCACCCA CCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGGGCCCGG CCTCTCAGTCGTCTTTTGCTTCTGCTTCAAGCAACCAATCCTCCAGGCCT AATGCAGAAGTCACCCCCTTTCCCAATTTGTAAAACTATCAGTCCCAACT CCTTGTGCCTGGGAGAAGTTGTCTTCTTACCCATCTACTTTATGTTTCTC ACATTTTTTTTTTTTTTGGAGACAGAGTATTGCTGTGTTGCCCAGGCTGG AGTGCAGTGGCACAATCTTGGCTCACTGTAACCTTTGCCTCCCAGGTTCA AGTGAC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01109.hp1 HG02145.hp1 others(1): Show HG00735.hp1 HG01109.hp1 HG02145.hp1 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0004 a0001c0002t0001 a0001c0002t0004	a0001c0002t0001g0301 a0001c0002t0004g0134 a0001c0002t0004g0135 others(1): Show a0001c0002t0001g0301 a0001c0002t0004g0134 a0001c0002t0004g0135 a0001c0002t0004g0136	4	368	0.0109	455	c.865 others(472): Show c.865+2927_865+3381dupGTCACTTGAACCTGGGAGGCAAAGGTTA CAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACACAGCAAT ACTCTGTCTCCAAAAAAAAAAAAAATGTGAGAAACATAAAGTAGATGGGT AAGAAGACAACTTCTCCCAGGCACAAGGAGTTGGGACTGATAGTTTTACA AATTGGGAAAGGGGGTGACTTCTGCATTAGGCCTGGAGGATTGGTTGCTT GAAGCAGAAGCAAAAGACGACTGAGAGGCCGGGCCCAGTGGCTCACACCT GTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACGAGGTCAAGA GATAGAGACCATCAAACCATCCTGGCCAACATGGTGAAACCCCATCTCTA CTAAAAATACAAAAAATTAGCTGGGTGTTGTGTTGCGCACCTGTAGTCCC AGCTACTCGGGAGGCTGAGGCATGAGA	TTC23	ENSG00000103852.13	transcript	ENST00000394132.7	protein_coding	10/13			chr15	TogoVar
TTC23_chr15_99131323_99254581	99172014	T T	TCTCACAT others(448): Show TCTCACATTTTTTTTTTTTTTGGAGACAGAGTATTGCTGTGTTGCCCAGG CTGGAGTGCAGTGGCACAATCTTGGCTCACTGTAACCTTTGCCTCCCAGG TTCAAGTGACTCTCATGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTG CGCAACACAACACCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTT TCACCATGTTGGCCAGGATGGTTTGATGGTCTCTATCTCTTGACCTCGTG ATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCAC TGGGCCCGGCCTCTCAGTCGTCTTTTGCTTCTGCTTCAAGCAACCAATCC TCCAGGCCTAATGCAGAAGTCACCCCCTTTCCCAATTTGTAAAACTATCA GTCCCAACTCCTTGTGCCTGGGAGAAGTTGTCTTCTTACCCATCTACTTT ATGTTA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0105 a0001c0002t0004g0105	1	368	0.0027	455	c.865 others(472): Show c.865+3035_865+3036insTAACATAAAGTAGATGGGTAAGAAGACA ACTTCTCCCAGGCACAAGGAGTTGGGACTGATAGTTTTACAAATTGGGAA AGGGGGTGACTTCTGCATTAGGCCTGGAGGATTGGTTGCTTGAAGCAGAA GCAAAAGACGACTGAGAGGCCGGGCCCAGTGGCTCACACCTGTAATCCCA GCACTTTGGGAGGCCGAGGTGGGTGGATCACGAGGTCAAGAGATAGAGAC CATCAAACCATCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATA CAAAAAATTAGCTGGGTGTTGTGTTGCGCACCTGTAGTCCCAGCTACTCG GGAGGCTGAGGCATGAGAGTCACTTGAACCTGGGAGGCAAAGGTTACAGT GAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACACAGCAATACTC TGTCTCCAAAAAAAAAAAAAATGTGAG	TTC23	ENSG00000103852.13	transcript	ENST00000394132.7	protein_coding	10/13			chr15	TogoVar
TXNDC16_chr14_52425596_52557505	52530556	A A	ATATTATA others(448): Show ATATTATATATAATAATATAATATATATTATTATATATTATTATATATAA TAATATAATATATATTATTATATATTATTATATATAATATAATATATATT ATTATATATTATTATATATAATATAATATATATTATTATATATTATTATA TATAATATAATATATATTATTATATATTATTATATATAATATAATATATA TTATTATATATTATTATATATAATATAATATATATTATTATATATTATTA TATATAATAATATATAATATATATTATTATATATTATTATATATAATAAT ATAATATATATTATTATATATAATAATATAATATATATTATTATATATTA TTATATATAATAATATAATATATATTATTATATATAATAATATAATATAT ATTATTATATATTATTATATATAATATAATATATATTATTATATATTATT ATATAT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0105 a0006c0010t0001g0105	1	238	0.0042	455	c.392 others(472): Show c.392+6162_392+6163insATATATAATAATATATAATAATATATAT TATATTATATATAATAATATATAATAATATATATTATATTATTATATATA ATAATATATATTATATTATTATATATAATAATATATAATAATATATATTA TATTATTATATATAATAATATATATTATATTATTATATATAATAATATAT AATAATATATATTATATATTATTATATATAATAATATATAATAATATATA TTATATTATATATAATAATATATAATAATATATATTATATTATATATAAT AATATATAATAATATATATTATATTATATATAATAATATATAATAATATA TATTATATTATATATAATAATATATAATAATATATATTATATTATATATA ATAATATATAATAATATATATTATATTATTATATATAATAATATATAATA ATATATATTATATTATTATATATAATA	TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	6/20			chr14	TogoVar
UMAD1_chr7_7635752_7884223	7679098	C C	CATATATT others(448): Show CATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTA TAAACATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAG TTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATATAT TTAGTTTATAAACATATATTTATTTATTTAGTTTATAAATATATATTTAT TTATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATATAT TTATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATATTTAC ATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATACATAT TTACATATTTAGTTTATAAATACATATTTATATATTTAGTTTATAAATAC ATATTTATATATTTAGTTTATAAATATATATTTATATATTTAATTTATAG ATAAAT	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0211 a0001c0001t0045g0211	1	250	0.0040	455	c.82+ others(470): Show c.82+5669_82+5670insAACATATATTTATATATTTAGTTTATAAAC ATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTAT AAACATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGT TTATAAACATATATTTATTTATTTAGTTTATAAATATATATTTATTTATT TAGTTTATAAATATATATTTACATATTTAGTTTATAAATATATATTTATT TAGTTTATAAATACATATTTACATATTTAGTTTATAAATATTTACATATT TAGTTTATAAATACATATTTACATATTTAGTTTATAAATACATATTTACA TATTTAGTTTATAAATACATATTTATATATTTAGTTTATAAATACATATT TATATATTTAGTTTATAAATATATATTTATATATTTAATTTATAGATAAA TATATATTTATATATTTAGTTTATA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
USP37_chr2_218445251_218573351	218557668	G G	GCTGTAAT others(448): Show GCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACAAGGTCA AGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAA AATACAAAAAATTAGCTGGGCATGGTGGCAGGCGCCTGTAGTCCCAGCTA CTCGAGAGGCTGAGGCAGGAGGATGGTATGAACCCAGGAGGCAGGGTTTG CAGTAAGCCGAGATCACACCACCGCACTCCAGCCTGGGCAACAGAGCGAG ACTCCGTCTCAAAAAACAAAACAAAAAGCAAAAAAACCCCATATATATAT ATATATATATATATATATATATATATATATGATCTTAAAGTGCAGAAAAA CATAAAACATTATGTTCTTAACTTCAACTCATATCAAGATGAGTAACTTG GTTGCATAAGAGAAGCAATAAAGAAGTGAAAACAGGCTGGGCGCAGTGGC TCACAC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0137 a0001c0001t0012g0137	1	282	0.0036	455	c.156 others(470): Show c.156+829_156+830insGTGTGAGCCACTGCGCCCAGCCTGTTTTCA CTTCTTTATTGCTTCTCTTATGCAACCAAGTTACTCATCTTGATATGAGT TGAAGTTAAGAACATAATGTTTTATGTTTTTCTGCACTTTAAGATCATAT ATATATATATATATATATATATATATATATATATATGGGGTTTTTTTGCT TTTTGTTTTGTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAG TGCGGTGGTGTGATCTCGGCTTACTGCAAACCCTGCCTCCTGGGTTCATA CCATCCTCCTGCCTCAGCCTCTCGAGTAGCTGGGACTACAGGCGCCTGCC ACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCG TGTTAGCCAGGATGGTCTCGATCTCTTGACCTTGTGATCCACCTGCCTCA GCCTCCCAAAGTGCTGGGATTACAG	USP37	ENSG00000135913.11	transcript	ENST00000258399.8	protein_coding	4/25			chr2	TogoVar
ZNF365_chr10_62369369_62407450	62370782	C C	CATCATAT others(448): Show CATCATATACATCATATACATCATATATGATATATACATCATATATCACA CATATGATATACACATCATATATCACACATATGATATACACATCATATAT CACACATATGATATACATCATATATCACACATATGATATACATCATATAT CACACATATGATATACATCATATATCACACATATGATATACATCATATAT CACACATATGATATACATCATATATCACACATATGATATACATCATATAT CACACATATGATATACATCATATATCACACATATGATATACATCATATAT CACACATATGATATACATCATATATCACACATATGATATATATCATATAT CACACATATGATATATATCATACATATCACATATATCATATATATCATAC ATATCACATATATCATATATATCATACATATCACATATATGATATATATC ATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0021 a0002c0002t0021	a0002c0002t0021g0001 a0002c0002t0021g0001	1	350	0.0029	455	c.-36 others(466): Show c.-3690_-3689insATCATATACATCATATACATCATATATGATATAT ACATCATATATCACACATATGATATACACATCATATATCACACATATGAT ATACACATCATATATCACACATATGATATACATCATATATCACACATATG ATATACATCATATATCACACATATGATATACATCATATATCACACATATG ATATACATCATATATCACACATATGATATACATCATATATCACACATATG ATATACATCATATATCACACATATGATATACATCATATATCACACATATG ATATACATCATATATCACACATATGATATACATCATATATCACACATATG ATATATATCATATATCACACATATGATATATATCATACATATCACATATA TCATATATATCATACATATCACATATATCATATATATCATACATATCACA TATATGATATATATCATATAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3586		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62370782	C C	CATCATAT others(448): Show CATCATATACATCATATACATCATATATGATATATACATCATATATCACA CATATGATATATACATCATATATCACACATATGATATATACATCATATAT CACACATATGATATACATCATATATCACACATATGATATACATCATATAT CACACATATGATATACATCATATATCACACATATGATATACATCATATAT CACACATATGATATACATCATATATCACACATATGATATACATCATATAT CACACATATGATATACATCATATATCACACATATGATATATATCATATAT CACACATATGATATATATCATATATCACACATATGATATATATCATATAT CACACATATGATATATATCATACATATCACATATATCATATATATCATAC ATATCACATATATCATATATATCATACATATCACATATATGATATATATC ATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	350	0.0029	455	c.-36 others(466): Show c.-3690_-3689insATCATATACATCATATACATCATATATGATATAT ACATCATATATCACACATATGATATATACATCATATATCACACATATGAT ATATACATCATATATCACACATATGATATACATCATATATCACACATATG ATATACATCATATATCACACATATGATATACATCATATATCACACATATG ATATACATCATATATCACACATATGATATACATCATATATCACACATATG ATATACATCATATATCACACATATGATATACATCATATATCACACATATG ATATATATCATATATCACACATATGATATATATCATATATCACACATATG ATATATATCATATATCACACATATGATATATATCATACATATCACATATA TCATATATATCATACATATCACATATATCATATATATCATACATATCACA TATATGATATATATCATATAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3586		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62370969	G G	GTGATATA others(448): Show GTGATATATATCACATATGTGATATATATCATATCACATATCATATGACA TATCATATCACATATCACATATCACATATCACATATCACATATCATATGA TATATATCACATGTGATATATAGCATATGTGATATATATCATATATATCA CATGTGATATATAGCATATGTGATATATATCATATATATCACATATGATA TATAGCATATGTGATATATATCATATATATCACATATGCTATATAGCATA CGTGATATATATCATATATATCATATATGATGTATAGCATGATATATATG CTATATATCACATGTGATATATAGCATATATATCACATGTGATATATAGC ATATATATCACATGTGATATATAGCATATGTGATATATATGATATATGTG ATATATATCATATGTGATATATGTGATATATATCACATATATATGATATA TATCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01169.hp1 HG01257.hp1 HG01978.hp2 others(1): Show HG01169.hp1 HG01257.hp1 HG01978.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0009 a0001c0001t0002g0153 a0001c0001t0002g0009 a0001c0001t0002g0153	4	350	0.0114	455	c.-35 others(466): Show c.-3503_-3502insTGATATATATCACATATGTGATATATATCATATC ACATATCATATGACATATCATATCACATATCACATATCACATATCACATA TCACATATCATATGATATATATCACATGTGATATATAGCATATGTGATAT ATATCATATATATCACATGTGATATATAGCATATGTGATATATATCATAT ATATCACATATGATATATAGCATATGTGATATATATCATATATATCACAT ATGCTATATAGCATACGTGATATATATCATATATATCATATATGATGTAT AGCATGATATATATGCTATATATCACATGTGATATATAGCATATATATCA CATGTGATATATAGCATATATATCACATGTGATATATAGCATATGTGATA TATATGATATATGTGATATATATCATATGTGATATATGTGATATATATCA CATATATATGATATATATCAC	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3399		chr10	TogoVar
ZNF705A_chr12_8152015_8185046	8184239	C C	CGGCCAGC others(448): Show CGGCCAGCCACCCCCGTCCGGGAAGTGAGGGGTGCCTCTGCCCGGCCGCC CCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCTCCGTCCGGG AGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGGGGTCAGCCCCCCGCCCAGCCAGCCGCCCCGTCCGGGAG GGAGGTGGGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGGAG GTGAGGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCC TCTGCCCGGCCAGCCGCTCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCC CCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCC CCGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCC CCACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0001 a0002c0001t0002g0001	1	420	0.0024	455	c.66 others(466): Show c.6656_*6657insGGCCAGCCACCCCCGTCCGGGAAGTGAGGGGTGC CTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCA GCCGCTCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCAGCCAGC CGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCACCTGGCCAGC CGCCCCGTCCGGGAGGTGAGGGGGCGCCTCTGCCCGGCCGCCCCTACTGG GAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCTCCGTCCGGGAGGGAGGT GGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGATCAGCCCCCCGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGGTCAGCCCCCCACCT	ZNF705A	ENSG00000196946.11	transcript	ENST00000396570.8	protein_coding		4194		chr12	TogoVar
ZNF705A_chr12_8152015_8185046	8184239	C C	CGGCCAGC others(448): Show CGGCCAGCCACCCCGTCCGGGAAGTGAGGGGCGCCTCTGCCCGGCCGCCC CTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCTCCGTCCGGGA GGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGGGGTCAGCCCCCCGCCCAGCCAGCCGCCCCGTCCGGGAG GGAGGTGGGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGGAG GTGAGGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCC TCTGCCCGGCCAGCCGCTCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCC CCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCC CCGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCC CCACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0007 a0002c0001t0002g0007	1	420	0.0024	455	c.66 others(466): Show c.6656_*6657insGGCCAGCCACCCCGTCCGGGAAGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAG CCGCTCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCAGCCAGC CGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCACCTGGCCAGC CGCCCCGTCCGGGAGGTGAGGGGGCGCCTCTGCCCGGCCGCCCCTACTGG GAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCTCCGTCCGGGAGGGAGGT GGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGATCAGCCCCCCGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGGTCAGCCCCCCACCT	ZNF705A	ENSG00000196946.11	transcript	ENST00000396570.8	protein_coding		4194		chr12	TogoVar
ZNF705A_chr12_8152015_8185046	8184239	C C	CGGCCAGC others(448): Show CGGCCAGCCACCCCGTCCGGGAAGTGAGGGGCGCCTCTGCCCGGCCGCCC CTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCTCCGTCCGGGA GGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAG GGAGGTGGGGGGGTCAGCCCCCCGCCCAGCCAGCCGCCCCGTCCGGGAGG GAGGTGGGGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGGAG GTGAGGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCC TCTGCCCGGCCAGCCGCTCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCC CCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCC CCGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCC CCACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0006 a0002c0001t0002g0006	1	420	0.0024	455	c.66 others(466): Show c.6656_*6657insGGCCAGCCACCCCGTCCGGGAAGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAG CCGCTCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGC CGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCAGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCACCTGGCCAGC CGCCCCGTCCGGGAGGTGAGGGGGCGCCTCTGCCCGGCCGCCCCTACTGG GAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCTCCGTCCGGGAGGGAGGT GGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGATCAGCCCCCCGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGGTCAGCCCCCCACCT	ZNF705A	ENSG00000196946.11	transcript	ENST00000396570.8	protein_coding		4194		chr12	TogoVar
ZNF705A_chr12_8152015_8185046	8184239	C C	CGGCCAGC others(448): Show CGGCCAGCCACCCCGTCCGGGAAGTGAGGGGCGCCTCTGCCCGGCCGCCC CTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCTCCGTCCGGGA GGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAG GGAGGTGGGGGGGTCAGCCCCCCGCCCAGCCAGCCGCCCCGTCCGGGAGG GAGGTGGGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGGAGG TGAGGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCT CTGCCCGGCCAGCCGCTCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCC CCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCC CGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCC CCACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0034 a0002c0001t0002g0034	1	420	0.0024	455	c.66 others(466): Show c.6656_*6657insGGCCAGCCACCCCGTCCGGGAAGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAG CCGCTCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGC CGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCAGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCACCTGGCCAGCC GCCCCGTCCGGGAGGTGAGGGGGCGCCTCTGCCCGGCCGCCCCTACTGGG AAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCTCCGTCCGGGAGGGAGGTG GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGATCAGCCCCCCGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGGGTCAGCCCCCCACCT	ZNF705A	ENSG00000196946.11	transcript	ENST00000396570.8	protein_coding		4194		chr12	TogoVar
ZNF705A_chr12_8152015_8185046	8184239	C C	CGGCCAGC others(448): Show CGGCCAGCCACCCCGTCCGGGAAGTGAGGGGTGCCTCTGCCCGGCCGCCC CTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCTCCGTCCGGGA GGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGGGGTCAGCCCCCCGCCCAGCCAGCCGCCCCGTCCGGGAG GGAGGTGGGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGGAG GTGAGGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCC TCTGCCCGGCCAGCCGCTCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCC CCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCC CCGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCC CCACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp2 HG04184.hp1 HG03654.hp2 HG04184.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0001 a0002c0001t0002g0008 a0002c0001t0002g0001 a0002c0001t0002g0008	2	420	0.0048	455	c.66 others(466): Show c.6656_*6657insGGCCAGCCACCCCGTCCGGGAAGTGAGGGGTGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAG CCGCTCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCAGCCAGC CGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCACCTGGCCAGC CGCCCCGTCCGGGAGGTGAGGGGGCGCCTCTGCCCGGCCGCCCCTACTGG GAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCTCCGTCCGGGAGGGAGGT GGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGATCAGCCCCCCGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGGTCAGCCCCCCACCT	ZNF705A	ENSG00000196946.11	transcript	ENST00000396570.8	protein_coding		4194		chr12	TogoVar
ZNF705A_chr12_8152015_8185046	8184239	C C	CGGCCAGC others(448): Show CGGCCAGCCACCCCGTCCGGGAAGTGAGGGGTGCCTCTGCCCGGCCGCCC CTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCTCCGTCCGGGA GGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAG GGAGGTGGGGGGGGTCAGCCCCCCGCCCAGCCAGCCGCCCCGTCCGGGAG GGAGGTGGGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGGAG GTGAGGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCC TCTGCCCGGCCAGCCGCTCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCC CCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCC CCGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCC CCACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0129 a0002c0001t0002g0129	1	420	0.0024	455	c.66 others(466): Show c.6656_*6657insGGCCAGCCACCCCGTCCGGGAAGTGAGGGGTGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAG CCGCTCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGC CGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCAGCCAGC CGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCACCTGGCCAGC CGCCCCGTCCGGGAGGTGAGGGGGCGCCTCTGCCCGGCCGCCCCTACTGG GAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCTCCGTCCGGGAGGGAGGT GGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGATCAGCCCCCCGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGGTCAGCCCCCCACCT	ZNF705A	ENSG00000196946.11	transcript	ENST00000396570.8	protein_coding		4194		chr12	TogoVar
ZNF705A_chr12_8152015_8185046	8184239	C C	CGGCCAGC others(448): Show CGGCCAGCCACCCCGTCCGGGAAGTGAGGGGTGCCTCTGCCCGGCCGCCC CTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCTCCGTCCGGGA GGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAG GGAGGTGGGGGGGTCAGCCCCCCGCCCAGCCAGCCGCCCCGTCCGGGAGG GAGGTGGGGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGGAG GTGAGGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCC TCTGCCCGGCCAGCCGCTCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCC CCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCC CCGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCC CCACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0001 a0002c0001t0002g0001	1	420	0.0024	455	c.66 others(466): Show c.6656_*6657insGGCCAGCCACCCCGTCCGGGAAGTGAGGGGTGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAG CCGCTCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGC CGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCAGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCACCTGGCCAGC CGCCCCGTCCGGGAGGTGAGGGGGCGCCTCTGCCCGGCCGCCCCTACTGG GAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCTCCGTCCGGGAGGGAGGT GGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGATCAGCCCCCCGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGGTCAGCCCCCCACCT	ZNF705A	ENSG00000196946.11	transcript	ENST00000396570.8	protein_coding		4194		chr12	TogoVar
ZNF705A_chr12_8152015_8185046	8184239	C C	CGGCCAGC others(448): Show CGGCCAGCCACCCCGTCCGGGAAGTGAGGGGTGCCTCTGCCCGGCCGCCC CTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCTCCGTCCGGGA GGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAG GGAGGTGGGGGGGTCAGCCCCCCGCCCAGCCAGCCGCCCCGTCCGGGAGG GAGGTGGGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGGAGG TGAGGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCT CTGCCCGGCCAGCCGCTCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCC CCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCC CCGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCC CCACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG02738.hp2 HG03927.hp2 others(1): Show HG00408.hp1 HG02738.hp2 HG03927.hp2 NA19006.hp2	a0002 a0009 a0002 a0009	a0002c0001 a0009c0011 a0002c0001 a0009c0011	a0002c0001t0002 a0009c0011t0002 a0002c0001t0002 a0009c0011t0002	a0002c0001t0002g0187 a0002c0001t0002g0203 a0002c0001t0002g0219 others(1): Show a0002c0001t0002g0187 a0002c0001t0002g0203 a0002c0001t0002g0219 a0009c0011t0002g0028	4	420	0.0095	455	c.66 others(466): Show c.6656_*6657insGGCCAGCCACCCCGTCCGGGAAGTGAGGGGTGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAG CCGCTCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGC CGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCAGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCACCTGGCCAGCC GCCCCGTCCGGGAGGTGAGGGGGCGCCTCTGCCCGGCCGCCCCTACTGGG AAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCTCCGTCCGGGAGGGAGGTG GGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGATCAGCCCCCCGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGGTCAGCCCCCCACCT	ZNF705A	ENSG00000196946.11	transcript	ENST00000396570.8	protein_coding		4194		chr12	TogoVar
ABCC6_chr16_16144565_16228494	16172318	T T	TGGGATGG others(449): Show TGGGATGGATAAATGAGTGGGTGGGATGGATAAATGAGTGGGTGGGATGG ATAAATGAGGGGGTGGGATGGATGGATAAATGAGTGGGTGGGATGGATAA ATGAGTGGGTGGGATGGATAAATGGGTGGGTGGGATGGCTAAATGAGTGG GTGGGATGGATAAATGAGTGGGTGGGATGGCTAAATGAGTGGGTGGGATG GATAAATGAGTGGGTGGGATGGATAAATGGGTGGGTGGGATGGATAAATG GGTGGGATGGATGGATAAATGAGTGGGTGGGATGGCTAAATGAGTGGGTG GGATGGATAAATGGGTGGGTGGGATGGATAAATGGGTGGGTGGAATGGAT AAATGGGTGGGTGGGATGGATAAATGAGTGGGTGGGATGGATAAATGGGT GGGTGGGATGGCTAAATGAGTGGGTGGGATGGATAAATGAGTGGGTGGGA TGGATAA	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0196 a0003c0005t0001g0196	1	357	0.0028	456	c.278 others(473): Show c.2787+965_2787+966insTTATCCATCCCACCCACTCATTTATCCA TCCCACCCACTCATTTAGCCATCCCACCCACCCATTTATCCATCCCACCC ACTCATTTATCCATCCCACCCACCCATTTATCCATTCCACCCACCCATTT ATCCATCCCACCCACCCATTTATCCATCCCACCCACTCATTTAGCCATCC CACCCACTCATTTATCCATCCATCCCACCCATTTATCCATCCCACCCACC CATTTATCCATCCCACCCACTCATTTATCCATCCCACCCACTCATTTAGC CATCCCACCCACTCATTTATCCATCCCACCCACTCATTTAGCCATCCCAC CCACCCATTTATCCATCCCACCCACTCATTTATCCATCCCACCCACTCAT TTATCCATCCATCCCACCCCCTCATTTATCCATCCCACCCACTCATTTAT CCATCCCACCCACTCATTTATCCATCCC	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	21/30			chr16	TogoVar
ACAP3_chr1_1287391_1312930	1290018	T T	TCCCCCGT others(449): Show TCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCT CTGCTCCATTCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCATTCCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCC CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCATTCCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTC CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCATTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0147 a0001c0001t0002g0147	1	295	0.0034	456	c.35 others(467): Show c.3545_*3546insGAATGGAGCAGAGACACGGGACGGAGCAGAGACA CGGGGGACGGAGCAGAGACACGGGACGGGGCAGAGACACGGGGGACGGAG CAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGGA ATGGAGCAGAGACACGGGACGGAGCAGAGACACGGGGGACGGAGCAGAGA CACGGGACGGGGCAGAGACACGGGGGACGGAGCAGAGACACGGGGGACGG AGCAGAGACACGGGACGGGGCAGAGACACGGGACGGAGCAGAGACACGGG GAATGGAGCAGAGACACGGGACGGAGCAGAGACACGGGGGACGGAGCAGA GACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAG CAGAGACACGGGGAATGGAGCAGAGACACGGGGGACGGAGCAGAGACACG GGACGGGGCAGAGACACGGGGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2372		chr1	TogoVar
ACTRT3_chr3_169761921_169774561	169770602	A A	AATATAAA others(449): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATAAATATAT AAAAATTTATATTTATATATCATAAATATAAATATATAAAAATTTATATT TATATATCATAAATATATAAAAATTTATATTTATATATCATAAATAAAAA TTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATATA AAAATTTATATTTATATATCATATAAAAATTTATATTTATATATCATATA TAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCA TATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATAT ATCATATATAAAAATTTATATATATCATATATAAAAATTTATATTTATAT ATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTT ATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	418	0.0024	456	c.-10 others(467): Show c.-1083_-1082insGATATATAAATATAAATTTTTATATATGATATAT AAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGAT ATATATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGAT ATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATA TGATATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTA TATGATATATAAATATAAATTTTTATATATGATATATAAATATAAATTTT TATATATGATATATAAATATAAATTTTTATTTATGATATATAAATATAAA TTTTTATATATTTATGATATATAAATATAAATTTTTATATATTTATATTT ATGATATATAAATATAAATTTTTATATATTTATATTTATGATATATAAAT ATAAATTTTTATATATTTATAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1042		chr3	TogoVar
ADAMTSL3_chr15_83649123_84044842	83695228	A A	ATGTGTGG others(449): Show ATGTGTGGTATATGTGTGTGTATGTGTGGTGTGTGGTGTGTATGGATGGT GTGTGTGGGGTATGTTAGGTGTGTGTGTGTGTATGTAGTGTGTGGTATGT GGTGTGTGTGCATTGTATGTGTTAGGTGTGTAGTGTGTGGTGTGTGAGTA CATTCAGTGTTTGGTGTATGTGTGGTATATTTGTGGTGTGTGTGTATATA TAGTGCGTGGTGTGTGTGGGGGTATGTTTGTGGTGTGTGTGTATATGTGT AATGTGTGGTATGTGATTGTGTATGTGCATGTGTGTGTGGTATGTGGTGT ATGTGTGTAGTGTGTTATATGTGTTTGTGTATGTGTGTTGTCTGTGTATG GTATGTTTGTGGTATGTATATGTGTAATGTGTGGTTATGTGTTTGTGTAT GTGTGTGTATGTGGTATGTATTTTTTCTGTGTGTGTGGTATGCGTGCAGT GTCTGTG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01952.hp1 HG02615.hp2 others(8): Show HG01884.hp1 HG01952.hp1 HG02615.hp2 HG02896.hp2 HG02897.hp2 HG02965.hp2 HG03654.hp1 NA18969.hp1 NA18994.hp2 NA19084.hp1 NA20300.hp2	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0006 a0008 a0019	a0001c0001 a0002c0002 a0004c0004 others(3): Show a0001c0001 a0002c0002 a0004c0004 a0006c0005 a0008c0010 a0019c0022	a0001c0001t0001 a0002c0002t0001 a0004c0004t0001 others(3): Show a0001c0001t0001 a0002c0002t0001 a0004c0004t0001 a0006c0005t0002 a0008c0010t0001 a0019c0022t0001	a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0199 others(8): Show a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0206 a0002c0002t0001g0052 a0004c0004t0001g0004 a0004c0004t0001g0238 a0006c0005t0002g0026 a0008c0010t0001g0074 a0019c0022t0001g0242	11	274	0.0402	456	c.70- others(471): Show c.70-9155_70-9154insGTATATGTGTGTGTATGTGTGGTGTGTGGT GTGTATGGATGGTGTGTGTGGGGTATGTTAGGTGTGTGTGTGTGTATGTA GTGTGTGGTATGTGGTGTGTGTGCATTGTATGTGTTAGGTGTGTAGTGTG TGGTGTGTGAGTACATTCAGTGTTTGGTGTATGTGTGGTATATTTGTGGT GTGTGTGTATATATAGTGCGTGGTGTGTGTGGGGGTATGTTTGTGGTGTG TGTGTATATGTGTAATGTGTGGTATGTGATTGTGTATGTGCATGTGTGTG TGGTATGTGGTGTATGTGTGTAGTGTGTTATATGTGTTTGTGTATGTGTG TTGTCTGTGTATGGTATGTTTGTGGTATGTATATGTGTAATGTGTGGTTA TGTGTTTGTGTATGTGTGTGTATGTGGTATGTATTTTTTCTGTGTGTGTG GTATGCGTGCAGTGTCTGTGTGTGTG	ADAMTSL3	ENSG00000156218.13	transcript	ENST00000286744.10	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr15	TogoVar
AKT3_chr1_243494724_243855243	243525831	G G	GGGGGAGG others(449): Show GGGGGAGGAGGGGAGGGGAGGGGAGAAGGTGAAGAGGGGAAGGAGAGGAG GGGGAGGTGGAGGAGGGGGAGGAGGAGGAGGAGGAGAAGGGGGAGGAGAA GGGGAAGGAGCAGAAAGGGGAGGAGAAGGGGAGGAGGAGGGGGAGGAGGA GGAGAAGGGGAGGAGGAGGGGGAGGAGGGGGAGGGGGAGGGGGGGAGGAG GAGGGGGGGGGAGGAGGGGGGGGGGAGGGGGGGAGGAGGAGGGGGGGAGG AGGGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGAGGGGGAGG AGGAGGGGGAGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAG GAGGAGGAGGGGGAGGAGGAGGAGGGGAGGAGGAGGAGGGGGAGGAGGAG GAGGAGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGGAGGGGAGGAGGAGG AGGGGGA	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0072 a0001c0001t0008g0072	1	301	0.0033	456	c.125 others(477): Show c.1252-13406_1252-13405insTCCCCCTCCTCCTCCTCCCCTCCT CCTCCTCCTCCCCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCCCCTCCT CCTCCTCCCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCC CCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCCCCTCCTCCCCC TCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCCTCCTCCCCCCCTCCTCCT CCCCCCCTCCCCCCCCCCTCCTCCCCCCCCCTCCTCCTCCCCCCCTCCCC CTCCCCCTCCTCCCCCTCCTCCTCCCCTTCTCCTCCTCCTCCCCCTCCTC CTCCCCTTCTCCTCCCCTTTCTGCTCCTTCCCCTTCTCCTCCCCCTTCTC CTCCTCCTCCTCCTCCCCCTCCTCCACCTCCCCCTCCTCTCCTTCCCCTC TTCACCTTCTCCCCTCCCCTCCCCTCCTCCCC	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243525831	G G	GGGGGAGG others(449): Show GGGGGAGGAGGGGAGGGGAGGGGAGAAGGTGAAGAGGGGAAGGAGAGGAG GGGGAGGTGGAGGAGGGGGAGGAGGAGGAGGAGGAGAAGGGGGAGGAGAA GGGGAAGGAGCAGAAAGGGGAGGAGAAGTGGAGGAGGAGGGGGAGGAGGA GGAGAAGGGGAGGAGGAGGGGGAGGAGGGGGAGGGGGAGGGGGGGAGGAG GAGGGGGGGGGGAGGAGGGGGGGGGAGGGGGGGAGGAGGAGGGGGGGAGG AGGGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGAGGGGGAGG AGGAGGGGGAGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAG GAGGAGGAGGGGGAGGAGGAGGAGGGGAGGAGGAGGAGGGGGAGGAGGAG GAGGAGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGGAGGGGAGGAGGAGG AGGGGGA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0007 a0001c0001t0013g0007	1	301	0.0033	456	c.125 others(477): Show c.1252-13406_1252-13405insTCCCCCTCCTCCTCCTCCCCTCCT CCTCCTCCTCCCCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCCCCTCCT CCTCCTCCCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCC CCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCCCCTCCTCCCCC TCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCCTCCTCCCCCCCTCCTCCT CCCCCCCTCCCCCCCCCTCCTCCCCCCCCCCTCCTCCTCCCCCCCTCCCC CTCCCCCTCCTCCCCCTCCTCCTCCCCTTCTCCTCCTCCTCCCCCTCCTC CTCCACTTCTCCTCCCCTTTCTGCTCCTTCCCCTTCTCCTCCCCCTTCTC CTCCTCCTCCTCCTCCCCCTCCTCCACCTCCCCCTCCTCTCCTTCCCCTC TTCACCTTCTCCCCTCCCCTCCCCTCCTCCCC	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
ALK_chr2_29187774_29926586	29831108	G G	GAGCAGGA others(449): Show GAGCAGGAGCAGGAGCAGGAGGAGGAGCAGGAGGAGGAGGAGCAGGAGGA GGAGGAGCAGGAGCAGGAGCAGGAGCAGGAGCAGGAGGAGGAGGAGCAGG AGGAGGAGGAGCAGGAGGAGGAGGAGCAGGAGCAGGAGCAGGAGGAGGAG GAGGAGGAGGAGGAGCAGGAGGAGGAGGAGCAGGAGGAGGAGGAGCAGGA GCAGGAGCAGGAGCAGGAGCAGGAGGAGGAGGAGGAGCAGGGGGAGGAGG AGCAGGAGGAGGAGGAGCAGGAGCAGGAGCAGGAGCAGGAGGAGGAGGAG GAGCAGGAGGAGGAGGAGCAGGAGGAGGAGGAGCAGGAGGAGGAGGAGGA GCAGGAGCAGGAGGAGGAGGAGCAGGAGCAGGAGCAGGAGCAGGAGCAGA AGCAGAAGCAGAAGCAGAAGCAGCAGAAGCAGCAGAAGCAGCAGAAGCAG AAGCAAC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02071.hp1 HG02738.hp2 HG01074.hp1 HG02071.hp1 HG02738.hp2	a0002 a0003 a0002 a0003	a0002c0001 a0003c0005 a0003c0054 a0002c0001 a0003c0005 a0003c0054	a0002c0001t0001 a0003c0005t0002 a0003c0054t0002 a0002c0001t0001 a0003c0005t0002 a0003c0054t0002	a0002c0001t0001g0063 a0003c0005t0002g0032 a0003c0054t0002g0069 a0002c0001t0001g0063 a0003c0005t0002g0032 a0003c0054t0002g0069	3	80	0.0375	456	c.667 others(475): Show c.667+88884_667+88885insGTTGCTTCTGCTTCTGCTGCTTCTGC TGCTTCTGCTGCTTCTGCTTCTGCTTCTGCTTCTGCTCCTGCTCCTGCTC CTGCTCCTGCTCCTCCTCCTCCTGCTCCTGCTCCTCCTCCTCCTCCTGCT CCTCCTCCTCCTGCTCCTCCTCCTCCTGCTCCTCCTCCTCCTCCTGCTCC TGCTCCTGCTCCTGCTCCTCCTCCTCCTGCTCCTCCTCCCCCTGCTCCTC CTCCTCCTCCTGCTCCTGCTCCTGCTCCTGCTCCTGCTCCTCCTCCTCCT GCTCCTCCTCCTCCTGCTCCTCCTCCTCCTCCTCCTCCTCCTGCTCCTGC TCCTGCTCCTCCTCCTCCTGCTCCTCCTCCTCCTGCTCCTCCTCCTCCTG CTCCTGCTCCTGCTCCTGCTCCTGCTCCTCCTCCTCCTGCTCCTCCTCCT CCTGCTCCTCCTCCTGCTCCTGCTCCTGCT	ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	1/28			chr2	TogoVar
ALK_chr2_29187774_29926586	29831108	G G	GAGGAGGA others(449): Show GAGGAGGAGGAGCAGGAGCAGGAGGAGGAGCAGGAGCAGGAGCAGGAGGA GGAGCAGGAGGAGGAGGAGCAGGAGGAGGAGGAGCAGGAGCAGGAGCAGG AGCAGGAGCAGGAGGAGGAGGAGCAGGAGGAGGAGGAGCAGGAGGAGGAG GAGCAGGAGCAGGAGCAGGAGGAGGAGGAGGAGGAGGAGGAGCAGGAGGA GGAGGAGCAGGAGGAGGAGGAGCAGGAGCAGGAGCAGGAGCAGGAGCAGG AGGAGGAGGAGGAGCAGGGGGAGGAGGAGCAGGAGGAGGAGGAGCAGGAG CAGGAGCAGGAGCAGGAGGAGGAGGAGGAGCAGGAGGAGGAGGAGCAGGA GGAGGAGGAGCAGGAGGAGGAGGAGGAGCAGGAGCAGGAGGAGGAGGAGC AGGAGCAGGAGCAGGAGCAGGAGCAGAAGCAGAAGCAGAAGCAGAAGCAG CAGAAGC	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0036 a0001c0006t0001g0036	1	80	0.0125	456	c.667 others(475): Show c.667+88884_667+88885insGCTTCTGCTGCTTCTGCTTCTGCTTC TGCTTCTGCTCCTGCTCCTGCTCCTGCTCCTGCTCCTCCTCCTCCTGCTC CTGCTCCTCCTCCTCCTCCTGCTCCTCCTCCTCCTGCTCCTCCTCCTCCT GCTCCTCCTCCTCCTCCTGCTCCTGCTCCTGCTCCTGCTCCTCCTCCTCC TGCTCCTCCTCCCCCTGCTCCTCCTCCTCCTCCTGCTCCTGCTCCTGCTC CTGCTCCTGCTCCTCCTCCTCCTGCTCCTCCTCCTCCTGCTCCTCCTCCT CCTCCTCCTCCTCCTGCTCCTGCTCCTGCTCCTCCTCCTCCTGCTCCTCC TCCTCCTGCTCCTCCTCCTCCTGCTCCTGCTCCTGCTCCTGCTCCTGCTC CTCCTCCTCCTGCTCCTCCTCCTCCTGCTCCTCCTCCTGCTCCTGCTCCT GCTCCTCCTCCTGCTCCTGCTCCTCCTCCT	ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	1/28			chr2	TogoVar
AMPH_chr7_38378704_38636373	38570972	T T	TATATATT others(449): Show TATATATTTATATATAGAATATATATATATAGAATATATATTTATATATA GAATATATATATATAGAATATATATTTATATATAGAATATATATATAGAA TATATATTTATATATATAGAATATATATATAGAATATATATTTATATATA TAGAATATATATATAGAATATATATTTATATATATAGAATATATATATAG AATATATATTTATATATATAGAATATATATATAGAATATATATTTATATA TATAGAATATATTTATAGAATATATATTTATATATATAGAATATATTTAT AGAATATATATTTATATATATAGAATATATATATAGAATATATATTTATA TATATAGAATATATATATAGAATATATATTTATATATATAGAATATATAT ATAGAATATATATATAGAATATATATATAGAATATATATATAGAATATAT ATATAGA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0163 a0001c0003t0002g0163	1	288	0.0035	456	c.70- others(473): Show c.70-35962_70-35961insTCTATATATATATTCTATATATATATTC TATATATATATTCTATATATATATTCTATATATATATTCTATATATATAA ATATATATTCTATATATATATTCTATATATATAAATATATATTCTATATA TATATTCTATATATATAAATATATATTCTATAAATATATTCTATATATAT AAATATATATTCTATAAATATATTCTATATATATAAATATATATTCTATA TATATATTCTATATATATAAATATATATTCTATATATATATTCTATATAT ATAAATATATATTCTATATATATATTCTATATATATAAATATATATTCTA TATATATATTCTATATATATAAATATATATTCTATATATATATTCTATAT ATAAATATATATTCTATATATATATATTCTATATATAAATATATATTCTA TATATATATATTCTATATATAAATATAT	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	1/20			chr7	TogoVar
ANKLE2_chr12_132720503_132766832	132729611	T T	TGAGGGGA others(449): Show TGAGGGGAGGGGGAGGAGGAGGTGAGGGGAGTGGAAGGGTGGGAGGGGAG GGGGAGGTGAGGGGAGGGGGAGGTGAGGGGAGTGGACGGGTGGGAGGGGG AGGGGGAGGGGAGGGTGGGAGGGGGAGGGGAGGGGAAGGTGAGGGGAGGA GGAGGAGAGGGGAGTGGATGGGTGGGAGGGGAGGGGGAGGGGAGGGGAGT CGACGAGTGGGAGGGGAGGGGAGGTGAGGGGAGGGGGAGGGGAGGGGAGG GGGGGTGGGAGGGGAGGGGTGAGGGTGGGAGGGAGGGGGGAGGGGAGGAT GGGAGGGGAGGGGGAGGGGAGGATGGGAGGGGAGGGGGAGGGGAGGGGAA GGTGAGAGAAGGGGGAGGGGAAGGCGAGGGGAAGGGGAGGGGAAGGCGAG GGGAGGGGGAGGGGGAGGCGAGGGGAGGGGGGAGGGGAGGGGAGGGGAGG GGGAGGG	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0284 a0002c0002t0001g0284	1	350	0.0029	456	c.248 others(471): Show c.2483+67_2483+68insCCCTCCCCCTCCCCTCCCCTCCCCTCCCCC CTCCCCTCGCCTCCCCCTCCCCCTCCCCTCGCCTTCCCCTCCCCTTCCCC TCGCCTTCCCCTCCCCCTTCTCTCACCTTCCCCTCCCCTCCCCCTCCCCT CCCATCCTCCCCTCCCCCTCCCCTCCCATCCTCCCCTCCCCCCTCCCTCC CACCCTCACCCCTCCCCTCCCACCCCCCCTCCCCTCCCCTCCCCCTCCCC TCACCTCCCCTCCCCTCCCACTCGTCGACTCCCCTCCCCTCCCCCTCCCC TCCCACCCATCCACTCCCCTCTCCTCCTCCTCCCCTCACCTTCCCCTCCC CTCCCCCTCCCACCCTCCCCTCCCCCTCCCCCTCCCACCCGTCCACTCCC CTCACCTCCCCCTCCCCTCACCTCCCCCTCCCCTCCCACCCTTCCACTCC CCTCACCTCCTCCTCCCCCTCCCCTC	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	11/12			chr12	TogoVar
ANKLE2_chr12_132720503_132766832	132729611	T T	TGAGGGGA others(449): Show TGAGGGGAGGGGGAGGAGGAGGTGAGGGGAGTGGAAGGGTGGGAGGGGAG GGGGAGGTGAGGGGAGGGGGAGGTGAGGGGAGTGGACGGGTGGGAGGGGG AGGGGGAGGGGAGGGTGGGAGGGGGAGGGGAGGGGAAGGTGAGGGGAGGA GGAGGAGAGGGGAGTGGATGGGTGGGAGGGGAGGGGGAGGGGGAGGGGAG GGGAGTCGACGAGTGGGAGGGGAGGGGAAGGTGAGGGGAGGGGGAGGGGA GGGGAGGGGGGGTGGGAGGGGAGGGGGAGGGTGGGAGGGGAGGGGGAGGG GAGGATGGGAGGGGAGGGGGAGGGGAGGATGGGAGGGGAGGGGGAGGGGA GGGGAAGGTGAGAGAAGGGGGAGGGGAAGGCGAGGGGAAGGCGAGGGGAG GGGGAGGGGAAGGCGAGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGAGG GGGAGGG	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0035 a0002c0002t0001g0035	1	350	0.0029	456	c.248 others(471): Show c.2483+67_2483+68insCCCTCCCCCTCCCCTCCCCTCCCCTCCCCC TCCCCCTCCCCTCGCCTTCCCCTCCCCCTCCCCTCGCCTTCCCCTCGCCT TCCCCTCCCCCTTCTCTCACCTTCCCCTCCCCTCCCCCTCCCCTCCCATC CTCCCCTCCCCCTCCCCTCCCATCCTCCCCTCCCCCTCCCCTCCCACCCT CCCCCTCCCCTCCCACCCCCCCTCCCCTCCCCTCCCCCTCCCCTCACCTT CCCCTCCCCTCCCACTCGTCGACTCCCCTCCCCTCCCCCTCCCCCTCCCC TCCCACCCATCCACTCCCCTCTCCTCCTCCTCCCCTCACCTTCCCCTCCC CTCCCCCTCCCACCCTCCCCTCCCCCTCCCCCTCCCACCCGTCCACTCCC CTCACCTCCCCCTCCCCTCACCTCCCCCTCCCCTCCCACCCTTCCACTCC CCTCACCTCCTCCTCCCCCTCCCCTC	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	11/12			chr12	TogoVar
ANO9_chr11_412938_447011	431281	C C	CGGGGGGT others(449): Show CGGGGGGTGTGGGGGCGTCTGCGGGTATCTGGGGGCTTCCGCGGGGGTGT GGGGGCTCCCGCGGGTATCTGGGGGCGTCTGCGGGGGTGTGTGGGGCTCC CGCGGGTATCTGGGGGCGTCCGCGGGGGTGTGGGGGGCGTCCGCGGGTAT CTGGGGGCGTCTGCGGGGGTGTAGGGGCTCCGCGGGTATCTGGGGGAGCG TCTGCGGGGGTGTGGGGGGCTCCCGTGGGTATCTGGGGGGGCGTCTGCGG GGGTGTGGGGGCGTCCCGCGGGTATCTGGGGGCTTCCGCGGGGGTGTGGG GGCGTCCGCGGGTATCTGGGGGCTTCTGCAGGGTGGTGTGGGGGCGTCCG CGGGTATCTGGGGGCTTCCGCAGGGGTTGTGGGGGCTCCCGTGGGTATCT GGGGGGCGTCCGCAGGGGGGTGTGGGGGCTCCCGTGGGTATCTGGGGGCT TCCGCGG	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0081 a0002c0002t0001g0081	1	286	0.0035	456	c.539 others(471): Show c.539+412_539+413insCCGCGGAAGCCCCCAGATACCCACGGGAGC CCCCACACCCCCCTGCGGACGCCCCCCAGATACCCACGGGAGCCCCCACA ACCCCTGCGGAAGCCCCCAGATACCCGCGGACGCCCCCACACCACCCTGC AGAAGCCCCCAGATACCCGCGGACGCCCCCACACCCCCGCGGAAGCCCCC AGATACCCGCGGGACGCCCCCACACCCCCGCAGACGCCCCCCCAGATACC CACGGGAGCCCCCCACACCCCCGCAGACGCTCCCCCAGATACCCGCGGAG CCCCTACACCCCCGCAGACGCCCCCAGATACCCGCGGACGCCCCCCACAC CCCCGCGGACGCCCCCAGATACCCGCGGGAGCCCCACACACCCCCGCAGA CGCCCCCAGATACCCGCGGGAGCCCCCACACCCCCGCGGAAGCCCCCAGA TACCCGCAGACGCCCCCACACCCCCC	ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	7/22			chr11	TogoVar
APOOL_chrX_84998877_85098315	85088046	G G	GTATTTAT others(449): Show GTATTTATACATATATGTATAAATACGTATTAATACATATATGTATAAAT ACGTATTAATACATATATGTATAAATACATACATATTTATACATATATGT ATACATACATATTTATACATATATATGTATAAATACATACATATTTATAC ATATATATGTATAAATACATACATATTTATACATATATATGTATAAATAC GTACATATTTATACATATATATGTATAAATACGTACATATTTATACATAT ATATGTATAAATACGTACATATTTATACATATATATGTATAAATACGTAC ATATTTATACATATATATGTATAAATACGTACATATTTATACATATATGT ATAAATACGTACATATTTATACATATATGTATAAATACGTACATATTTAT ACATATATGTATAAATACATATACATATTTATACATATATGTATAAATAC ATATACA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0089 a0001c0001t0089	a0001c0001t0089g0057 a0001c0001t0089g0057	1	256	0.0039	456	c.39 others(465): Show c.393_*394insGTATTAATACATATATGTATAAATACGTATTAATAC ATATATGTATAAATACATACATATTTATACATATATGTATACATACATAT TTATACATATATATGTATAAATACATACATATTTATACATATATATGTAT AAATACATACATATTTATACATATATATGTATAAATACGTACATATTTAT ACATATATATGTATAAATACGTACATATTTATACATATATATGTATAAAT ACGTACATATTTATACATATATATGTATAAATACGTACATATTTATACAT ATATATGTATAAATACGTACATATTTATACATATATGTATAAATACGTAC ATATTTATACATATATGTATAAATACGTACATATTTATACATATATGTAT AAATACATATACATATTTATACATATATGTATAAATACATATACATATTT ATACATATATGTATAAATAC	APOOL	ENSG00000155008.16	transcript	ENST00000373173.7	protein_coding	9/9	394	INFO_REALIGN_3_PRIME	chrX	TogoVar
APOOL_chrX_84998877_85098315	85088071	C C	CGTATTAA others(449): Show CGTATTAATACATATATGTATAAATACGTATTAATACATATATGTATAAA TACATACATATTTATACATATATGTATACATACATATTTATACATATATA TGTATAAATACATACATATTTATACATATATATGTATAAATACATACATA TTTATACATATATATGTATAAATACGTACATATTTATACATATATATGTA TAAATACGTACATATTTATACATATATATGTATAAATACGTACATATTTA TACATATATATGTATAAATACGTACATATTTATACATATATATGTATAAA TACGTACATATTTATACATATATATGTATAAATACGTACATATTTATACA TATATGTATAAATACGTACATATTTATACATATATGTATAAATACATATA CATATTTATACATATATGTATAAATACATATACATATATGTATAAATACA TACATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0081 a0001c0001t0081	a0001c0001t0081g0062 a0001c0001t0081g0062	1	256	0.0039	456	c.39 others(465): Show c.393_*394insGTATTAATACATATATGTATAAATACGTATTAATAC ATATATGTATAAATACATACATATTTATACATATATGTATACATACATAT TTATACATATATATGTATAAATACATACATATTTATACATATATATGTAT AAATACATACATATTTATACATATATATGTATAAATACGTACATATTTAT ACATATATATGTATAAATACGTACATATTTATACATATATATGTATAAAT ACGTACATATTTATACATATATATGTATAAATACGTACATATTTATACAT ATATATGTATAAATACGTACATATTTATACATATATATGTATAAATACGT ACATATTTATACATATATGTATAAATACGTACATATTTATACATATATGT ATAAATACATATACATATTTATACATATATGTATAAATACATATACATAT ATGTATAAATACATACATAT	APOOL	ENSG00000155008.16	transcript	ENST00000373173.7	protein_coding	9/9	394		chrX	TogoVar
ARHGAP39_chr8_144524179_144690846	144687192	C C	CCCCGTGA others(449): Show CCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACACA CTAGCGGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACT TCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCCGTGAC CACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACACACTGGCGGTG AGCACTTCCCACCCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCC CGTGACCACTCATTTACAGCGAGCACTTCCCACCCCGTGACCACACACTA GCGGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCC CACCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACA CATTTACAGTGAGCACTTCCCACCCCGTGACCACACACTGGCGGTGAGCA CTTCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	246	0.0041	456	c.-15 others(467): Show c.-1589_-1588insTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGG GTGGGAAGTGCTCACTGTAAATGTGTGGTCACGGGGTGGGAAGTGCTCAC CGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTC ACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTG CTCGCTGTAAATGAGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTG TGGTCACGGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGG GAAGTGCTCACCGCCAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACCGC TAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACG GGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTC ACCGCTAGTGTGTGGTCACGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1347		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687228	C C	CCCCGTGA others(449): Show CCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACACA CTAGCGGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACT TCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCCGTGAC CACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACACACTGGCGGTG AGCACTTCCCACCCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCC CGTGACCACTCATTTACAGCGAGCACTTCCCACCCCGTGACCACACACTA GCGGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCC CACCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACA CATTTACAGTGAGCACTTCCCACCCCGTGACCACACACTGGCGGTGAGCA CTTCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp1 HG02135.hp2 NA19000.hp2 HG02132.hp1 HG02135.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0204 a0001c0001t0001g0210 a0001c0001t0001g0172 a0001c0001t0001g0204 a0001c0001t0001g0210	3	246	0.0122	456	c.-16 others(467): Show c.-1625_-1624insTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGG GTGGGAAGTGCTCACTGTAAATGTGTGGTCACGGGGTGGGAAGTGCTCAC CGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTC ACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTG CTCGCTGTAAATGAGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTG TGGTCACGGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGG GAAGTGCTCACCGCCAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACCGC TAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACG GGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTC ACCGCTAGTGTGTGGTCACGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1383		chr8	TogoVar
ARID1B_chr6_156772378_157215779	157147227	A A	ACCCCCGC others(449): Show ACCCCCGCCTCCGACCCTGCCCTCCATCCCTCACCCCCCGCCTCCGGCCC TGCCCGCCAGCCCTCACCTCCGCCTCCGACCCTGCCCGCCTTCCCTCACC CCCGCCTCCGGCCCTGCCCTCCGTCCCCCACCCCCGCCTCCGGCCCTGCC CGCCAGCCCTCACCCCCGCCTCCGACCCTGCCCTCCATCCCTCACCCCCC GCCTCCGGCCCTGCCCGCCAGCCCTCACCTCCGCCTCCGACCCTGCCCGC CTTCCCTCACCCCCGCCTCCGGCCCTGCCCTCCGTCCCCCACCCCCGCCT CCGGCCCTGCCCGCCAGCCCTCACCCCCGCCTCCGGCCCTGCCCGCCAGC CCTCACCCCCGCCTCCGGCCCTGCCCGCCAGCCCTCACCCCCGCCTCCGG CCCTGCCCGCCAGCCCTCACCCCCGCCTCCGGCCCTGCCCTCCGGCCCTC ACCCCAG	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0136 a0001c0001t0006g0136	1	150	0.0067	456	c.276 others(475): Show c.2762-1395_2762-1394insCCCGCCTCCGACCCTGCCCTCCATCC CTCACCCCCCGCCTCCGGCCCTGCCCGCCAGCCCTCACCTCCGCCTCCGA CCCTGCCCGCCTTCCCTCACCCCCGCCTCCGGCCCTGCCCTCCGTCCCCC ACCCCCGCCTCCGGCCCTGCCCGCCAGCCCTCACCCCCGCCTCCGACCCT GCCCTCCATCCCTCACCCCCCGCCTCCGGCCCTGCCCGCCAGCCCTCACC TCCGCCTCCGACCCTGCCCGCCTTCCCTCACCCCCGCCTCCGGCCCTGCC CTCCGTCCCCCACCCCCGCCTCCGGCCCTGCCCGCCAGCCCTCACCCCCG CCTCCGGCCCTGCCCGCCAGCCCTCACCCCCGCCTCCGGCCCTGCCCGCC AGCCCTCACCCCCGCCTCCGGCCCTGCCCGCCAGCCCTCACCCCCGCCTC CGGCCCTGCCCTCCGGCCCTCACCCCAGCC	ARID1B	ENSG00000049618.25	transcript	ENST00000636930.2	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
ARSF_chrX_3036471_3117727	3036936	T T	TATATATA others(449): Show TATATATATTATATATAAAATATATATAATATATATAATATATATATTAT ATATAAAATATATATAATATATATATTATATATAAAATATATATAATATA TATAATATATATATTATATATAAAATATATATAATATATATATTATATAT AAAATATATATAATATATATAATATATATATTATATATAAAATATATATA ATATATATAATATATATAAAATATATATAATATATATAATATATATATTA TATATAAAATATATATAATATATATAATATATATAAAATATATATAATAT ATATAATATATATAATATATATAAAATATATATCATATATATAATATATA TATTATATATAAAATATATATCATATATATAATATATATATTATATATAA AATATATATCATATATATAATATATATATTATATATAAAATATATATCAT ATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01167.hp1 HG01169.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0010 a0002c0003t0001g0012 a0002c0003t0001g0010 a0002c0003t0001g0012	2	193	0.0104	456	c.-47 others(467): Show c.-4756_-4755insATATATATTATATATAAAATATATATAATATATA TAATATATATATTATATATAAAATATATATAATATATATATTATATATAA AATATATATAATATATATAATATATATATTATATATAAAATATATATAAT ATATATATTATATATAAAATATATATAATATATATAATATATATATTATA TATAAAATATATATAATATATATAATATATATAAAATATATATAATATAT ATAATATATATATTATATATAAAATATATATAATATATATAATATATATA AAATATATATAATATATATAATATATATAATATATATAAAATATATATCA TATATATAATATATATATTATATATAAAATATATATCATATATATAATAT ATATATTATATATAAAATATATATCATATATATAATATATATATTATATA TAAAATATATATCATATATATA	ARSF	ENSG00000062096.15	transcript	ENST00000381127.6	protein_coding		4534		chrX	TogoVar
ARSH_chrX_3001546_3039111	3036936	T T	TATATATA others(449): Show TATATATATTATATATAAAATATATATAATATATATAATATATATATTAT ATATAAAATATATATAATATATATATTATATATAAAATATATATAATATA TATAATATATATATTATATATAAAATATATATAATATATATATTATATAT AAAATATATATAATATATATAATATATATATTATATATAAAATATATATA ATATATATAATATATATAAAATATATATAATATATATAATATATATATTA TATATAAAATATATATAATATATATAATATATATAAAATATATATAATAT ATATAATATATATAATATATATAAAATATATATCATATATATAATATATA TATTATATATAAAATATATATCATATATATAATATATATATTATATATAA AATATATATCATATATATAATATATATATTATATATAAAATATATATCAT ATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01167.hp1 HG01169.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0002	a0002c0006t0002g0156 a0002c0006t0002g0159 a0002c0006t0002g0156 a0002c0006t0002g0159	2	248	0.0081	456	c.35 others(467): Show c.3551_*3552insATATATATTATATATAAAATATATATAATATATA TAATATATATATTATATATAAAATATATATAATATATATATTATATATAA AATATATATAATATATATAATATATATATTATATATAAAATATATATAAT ATATATATTATATATAAAATATATATAATATATATAATATATATATTATA TATAAAATATATATAATATATATAATATATATAAAATATATATAATATAT ATAATATATATATTATATATAAAATATATATAATATATATAATATATATA AAATATATATAATATATATAATATATATAATATATATAAAATATATATCA TATATATAATATATATATTATATATAAAATATATATCATATATATAATAT ATATATTATATATAAAATATATATCATATATATAATATATATATTATATA TAAAATATATATCATATATATA	ARSH	ENSG00000205667.3	transcript	ENST00000381130.3	protein_coding		2826		chrX	TogoVar
ASAP1_chr8_130047104_130448674	130049641	G G	GGGGGCAG others(449): Show GGGGGCAGAGGAGAACACATGGGGGCAGAGGAGAACACATGGGGGCAGAG GGGGAACACATGGGGGGCAGAGGAGAACACATGGGGGGCAGAGGGGAACA CATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGAGAACACATGGGGGC AGAGGGGGAACACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGG AACACATGGGGGGCAGAGGAGAACACATGGGGGGCAGAGGAGAACACATG GGGGCAGAGGGGGAACACATGGGGGGCAGAGGAGAACACATGGGGGCAGA GGGGAATACATGGGGGGCAGAGGGGAACACATGGGGGCAGAGGGGGAACA CATGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGGAACACATGGGGGG CAGAGGAGAACACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGG AACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0204 a0001c0001t0002g0204	1	308	0.0033	456	c.50 others(467): Show c.5089_*5090insATGTGTTCCCCCTCTGCCCCCATGTGTTCTCCTC TGCCCCCCATGTGTTCTCCTCTGCCCCCCATGTGTTCCCCCTCTGCCCCC ATGTGTTCTCCTCTGCCCCCATGTGTTCCCCCTCTGCCCCCATGTGTTCC CCTCTGCCCCCCATGTATTCCCCTCTGCCCCCATGTGTTCTCCTCTGCCC CCCATGTGTTCCCCCTCTGCCCCCATGTGTTCTCCTCTGCCCCCCATGTG TTCTCCTCTGCCCCCCATGTGTTCCCCCTCTGCCCCCATGTGTTCTCCTC TGCCCCCCATGTGTTCCCCCTCTGCCCCCATGTGTTCTCCTCTGCCCCCA TGTGTTCTCCTCTGCCCCCCATGTGTTCCCCTCTGCCCCCCATGTGTTCT CCTCTGCCCCCCATGTGTTCCCCCTCTGCCCCCATGTGTTCTCCTCTGCC CCCATGTGTTCTCCTCTGCCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2462		chr8	TogoVar
ASMTL_chrX_1398139_1457909	1453754	A A	AGTGGAGA others(449): Show AGTGGAGATGGGGGTGTCCACGGGCCTGGTGGGAGGGGCGTGGAGATGGG GGTGTCCACGGGCCTGGTGGGAGGGGCGTGGAGATGGGGGTGTCCACGGG CCTGGTGGGAGGGGCGTGGAGATGGGGGTGTCCACGGGCCTGGTGGGAGG GGCGTGGAGATGGGGGTGTCCACGGGCCTGGTGGGAGGGGAGTGGAGATG GGGGTGTCCACGGGCCTGGTGGGAGGGGCGTGGAGATGGGGGTGTCCACG GGCCTGGTGGGAGGGGCGTGGAGATGGGGGTGTCCACGGGCCTGGTGGGA GGGGCGTGGAGATGGGGGTGTCCACGGGCCTGGTGGGAGGGGCGTGGAGA TGGGGGTGTCCACGGGCCTGGTGGGAGGGGCGTGGAGATGGGGGTGTCCA CGGGCCTGGTGGGAGGGGAGTGGAGATGGGGGTGTCCACGGGCCTGGTGG GAGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp1 HG03239.hp1 HG01123.hp1 HG03239.hp1	a0002 a0003 a0002 a0003	a0002c0030 a0003c0002 a0002c0030 a0003c0002	a0002c0030t0001 a0003c0002t0001 a0002c0030t0001 a0003c0002t0001	a0002c0030t0001g0131 a0003c0002t0001g0130 a0002c0030t0001g0131 a0003c0002t0001g0130	2	185	0.0108	456	c.-91 others(465): Show c.-915_-914insGCCCCTCCCACCAGGCCCGTGGACACCCCCATCTCC ACTCCCCTCCCACCAGGCCCGTGGACACCCCCATCTCCACGCCCCTCCCA CCAGGCCCGTGGACACCCCCATCTCCACGCCCCTCCCACCAGGCCCGTGG ACACCCCCATCTCCACGCCCCTCCCACCAGGCCCGTGGACACCCCCATCT CCACGCCCCTCCCACCAGGCCCGTGGACACCCCCATCTCCACGCCCCTCC CACCAGGCCCGTGGACACCCCCATCTCCACTCCCCTCCCACCAGGCCCGT GGACACCCCCATCTCCACGCCCCTCCCACCAGGCCCGTGGACACCCCCAT CTCCACGCCCCTCCCACCAGGCCCGTGGACACCCCCATCTCCACGCCCCT CCCACCAGGCCCGTGGACACCCCCATCTCCACGCCCCTCCCACCAGGCCC GTGGACACCCCCATCTCCAC	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding		846		chrX	TogoVar
ATG7_chr3_11267397_11562665	11487564	A A	AGACGGGG others(449): Show AGACGGGGCGGCTGGCTGGGCAGGGGGGCTGACCCCCCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCT CCCAGACGGGGCGGCAGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCAACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCTGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGTG GGGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCT GAGGGGCTCCTCACTTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCA CCTCCCG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02723.hp2 HG03098.hp2 HG01884.hp1 HG02723.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0264 a0001c0001t0006g0269 a0001c0001t0006g0272 a0001c0001t0006g0264 a0001c0001t0006g0269 a0001c0001t0006g0272	3	292	0.0103	456	c.207 others(477): Show c.2079+60653_2079+60654insTGGGCAGGGGGGCTGACCCCCCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACACCC CCACCTCCCTCCCAGACGGGGCGGCAGGCCGGGCGGGGGGCCGACACCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCAA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGC TGGCCGGGTGGGGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGTGGC TGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCAGCCGGGCAGAG GCGCCCCTCACCTCCCGGACGGGGCGGCTGGC	ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATP10A_chr15_25673712_25868327	25758113	A A	ACTCATTC others(449): Show ACTCATTCCGATCACCTGCTCCACCCTCATTCCGATCACCTGCTCCACCC TAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCT CCACCCTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTG CTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTCATTCCGACCACC TGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTAACTCATTCCG ACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTC ATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCC TAACTCATTCCGATCACCTGCTCCACCCTCATTCCGACCACCTGCTCCAC CCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTG CTCCACC	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0055 a0055	a0055c0082 a0055c0082	a0055c0082t0001 a0055c0082t0001	a0055c0082t0001g0277 a0055c0082t0001g0277	1	300	0.0033	456	c.655 others(475): Show c.655-21973_655-21972insGGTGGAGCAGGTGATCGGAATGAGTT AGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAA TGAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGGTCGG AATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGT GGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGA GCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGGGTG GAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTT AGGGTGGAGCAGGTGGTCGGAATGAGGGTGGAGCAGGTGATCGGAATGAG TTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGATCGG AATGAGGGTGGAGCAGGTGATCGGAATGAG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar

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