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
SGTA_chr19_2749715_2788273	2773115	AGGGACAC others(198): Show AGGGACACCGAGGGCAGAGGTGGGTGACGCGGCCACACGGCAGGGACTCC GAGGGCAGAGGTGGGTGACGCGGCCACACGGCAGGGACACCGAGGGCAGA GATGGGTGACGCGGCCACACGGCAGGGACACCGAGGGCAGAGATGGGTGA CGCGGCCACAGGGCAGGGACACCGAGGGCAGAGATGGGTGACGCGGCCAC ACGGCG	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03540.hp2 HG06807.hp1 HG02572.hp1 HG03540.hp2 HG06807.hp1	a0001 a0001	a0001c0005 a0001c0010 a0001c0011 a0001c0005 a0001c0010 a0001c0011	a0001c0005t0002 a0001c0010t0002 a0001c0011t0002 a0001c0005t0002 a0001c0010t0002 a0001c0011t0002	a0001c0005t0002g0042 a0001c0010t0002g0074 a0001c0011t0002g0100 a0001c0005t0002g0042 a0001c0010t0002g0074 a0001c0011t0002g0100	3	394	0.0076	-205	c.-23 others(17): Show c.-23-4229_-23-4025del	SGTA	ENSG00000104969.11	transcript	ENST00000221566.7	protein_coding	1/11			chr19	TogoVar
SGTA_chr19_2749715_2788273	2773203	ACCGAGGG others(198): Show ACCGAGGGCAGAGATGGGTGACGCGGCCACACGGCAGGGACACCGAGGGC AGAGATGGGTGACGCGGCCACAGGGCAGGGACACCGAGGGCAGAGATGGG TGACGCGGCCACACGGCGGGGACACCGAGGGCAGAGGTGGGTGACGCGGC CACACGGCAGGGACACCGAGGGCAGAGGTGGGTGACGCGGCCACACGGCA GGGACT	A A	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0078 a0001c0002t0002g0078	1	308	0.0032	-205	c.-23 others(17): Show c.-23-4317_-23-4113del	SGTA	ENSG00000104969.11	transcript	ENST00000221566.7	protein_coding	1/11			chr19	TogoVar
SLC6A3_chr5_1387794_1450440	1393581	ATGGGGGC others(198): Show ATGGGGGCCCTGCATGCGTCCTGGGGTAGTACACGCTCCTGTGGGGGCCC TGCATGCATCCTGGGGTAGTACACGCTCCTGTGGGGGCCCTGCATGCGTC CTGGGGTAGTACACGCTCCTGTGGGGGCCCTGCATGCGTCCGGTCCGGGG ATAGGACACGCTCCTGTGGGGGCCCTGCATGCGTCCTGGGGTAGTACACG CTCCAG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0312 a0001c0001t0030g0312	1	371	0.0027	-205	c.94 others(10): Show c.949_*1153del	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	15/15	949		chr5	TogoVar
STX8_chr17_9245471_9580820	9429822	TATATTAT others(198): Show TATATTATATATATTATATATAATATATAATATATATTATATATATTATA TATTATATAGAATATATTATATATAATATATTATATATTATATATAATAT ATATAATATATATTATATAGAATATATTATATATAATATATATATTATAT ATTATATAGAATATATTATATATAATATATATATTATATATTATATATTA TATATA	T T	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0062 a0001c0002t0002g0062	1	186	0.0054	-205	c.542 others(19): Show c.542-51374_542-51170del	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	6/7			chr17	TogoVar
TAFA5_chr22_48484553_48756932	48667773	GCTGTAAT others(198): Show GCTGTAATCCCCCAGCACTCAGGACCGCGTCTTCACCGGGAGCGTTAATC CCCCAGCACTCAGGGCCGCGTCTTCACTGGGAGCTGTAATCCCCCAGCAC TCAGGACCGCGTCTTCACTGGGAGCTGTAGTCCCCCAGCACTCAGGACCG CGTCTTCACTGGGAGCTGTAATCCCCCAGCACTCAGGACCGCGTCTTCAC TGGGAA	G G	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0013 a0001c0001t0015g0013	1	256	0.0039	-205	c.262 others(19): Show c.262+21050_262+21254del	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
THEG_chr19_356747_381026	376900	TCTGTGCC others(198): Show TCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCC CCGTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCC CCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCT CCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTC TCCCCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0007 a0002c0002t0002g0007	1	350	0.0029	-205	c.-11 others(10): Show c.-1135_-931del	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		875		chr19	TogoVar
THEG_chr19_356747_381026	377061	CCCCACCC others(198): Show CCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCCCCCTGTG CCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCT GTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCC TGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCC TCTGTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0091 a0001c0001t0002g0091	1	367	0.0027	-205	c.-12 others(11): Show c.-1296_-1092del	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1036		chr19	TogoVar
TMCC1_chr3_129642792_129898711	129818412	TAAAGAAA others(198): Show TAAAGAAAAGTTTTAAAGAAACTTTTAAAGAAAAGTTTTAAAGAAACTTT TAAAGAAAAGTTTTAAAGAAACTTTTAAAGAAAAGTTTTAAAGAAACTTT TAAAGAAAAGTTTTAAAGAAACTTTTAAAGAAAAGTTTTAAAGAAACTTT TAAAGAAAAGTTTTAAAGAAACTTTTAAAGAAAAGTTTTAAAGAAACTTT TAAAGA	T T	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0115 a0001c0001t0022g0115	1	256	0.0039	-205	c.576 others(17): Show c.576+9186_576+9390del	TMCC1	ENSG00000172765.19	transcript	ENST00000393238.8	protein_coding	4/6			chr3	TogoVar
TNK2_chr3_195858364_195913551	195880872	CCGCCCCC others(198): Show CCGCCCCCCAGCAATGCCCCTTGGAGAGGACACAGCATCTATCCCTGTAA CACCCCCCCAGCAATGCCCCTTGGAGAGGACACAGCGTCTATCCCTGTAA CACCCGCCCCCAGCGATGCCCCTTGGAGAGGACACAGTGTCTATCCCTCT AACACCACCCGCCAGCAATGCCCCTTGAAGAGGACACAGGATCTGTCCCT CTAACA	C C	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02055.hp1 HG00673.hp2 HG02055.hp1	a0001 a0001	a0001c0002 a0001c0040 a0001c0002 a0001c0040	a0001c0002t0001 a0001c0040t0001 a0001c0002t0001 a0001c0040t0001	a0001c0002t0001g0190 a0001c0040t0001g0027 a0001c0002t0001g0190 a0001c0040t0001g0027	2	306	0.0065	-205	c.887 others(16): Show c.887+974_887+1178del	TNK2	ENSG00000061938.21	transcript	ENST00000672887.2	protein_coding	6/15			chr3	TogoVar
TRAF7_chr16_2150782_2183129	2164874	GTGGCCTG others(198): Show GTGGCCTGGCCTGGTCGCATGGTTAAGCGTGTTAGTGCTGCGTGGCCTGG CCTGGTCGCATGGTTAAGCGTGTGAGTGCTGTGTGGCGCAGCCTGGTCGC ATGGTTAAGCGTGTGAGTGCTGCGTGGCCTGGCCTGGTCGCATGGTTAAG CGTGTGAGTGCTGCATGGCCTGGCCTGGTCGCATGCTGAAGCGTGTGAGT GCTGCA	G G	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	318	0.0031	-205	c.81+ others(13): Show c.81+905_82-769del	TRAF7	ENSG00000131653.14	transcript	ENST00000326181.11	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
TTC5_chr14_20281227_20310951	20310364	CACCCGGC others(198): Show CACCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCC GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCAGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCTGCCCCGTCCA GGAGGTGAGGGGCGCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAGC CCCTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19059.hp1 NA19059.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	328	0.0030	-205	c.-46 others(11): Show c.-4632_-4428del	TTC5	ENSG00000136319.12	transcript	ENST00000258821.8	protein_coding		4414		chr14	TogoVar
ULK4_chr3_41241599_41967103	41891028	AGAAGGGA others(198): Show AGAAGGGACGGGAGGGGGAAAGAAGGGACGGGAGGGGGGAAGGAAGGGAC GGGAGGGGGAAAGAAGGGACGGGAGGGGGGAAGGAAGGGACGGGAGCGGG GAAGGAAGGGACGGGAGCGGGGAAGGAAGGGACGGGAGGGGGAAGGAAGG GACAGGAGGGGGAAAGAAGGGATGGGAGCGGGGAAAGAAGGGACGGGAGG GGGAAG	A A	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00735.hp1 HG02976.hp2 HG00621.hp2 HG00735.hp1 HG02976.hp2	a0007 a0007	a0007c0005 a0007c0005	a0007c0005t0001 a0007c0005t0001	a0007c0005t0001g0064 a0007c0005t0001g0065 a0007c0005t0001g0066 a0007c0005t0001g0064 a0007c0005t0001g0065 a0007c0005t0001g0066	3	65	0.0462	-205	c.157 others(19): Show c.1577+4285_1577+4489del	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	16/36			chr3	TogoVar
VPS53_chr17_503668_719839	506616	CGGGGTCA others(198): Show CGGGGTCAGGACAGTGGTTGAGATGGAAGCTGACTTTGTAGAAGAGCATT GGTGACCTTCGAGATCAGGGTCAGGACAGCGGTTGAGATGGAAGCTGACT TTCTAGAAGAGCATTGGTGACCTTCGAGAGCAGGGTCAGGACAGCGGTTG AGATGGAAGCTGACTTTCTAGAAGAGCATTGGTGACCTTCGAGAGCAGGG TCAGGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19060.hp1 NA19081.hp1 NA19060.hp1 NA19081.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0005	a0003c0004t0005g0027 a0003c0004t0005g0029 a0003c0004t0005g0027 a0003c0004t0005g0029	2	230	0.0087	-205	c.12 others(13): Show c.12307_*12511del	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding		2051		chr17	TogoVar
VPS53_chr17_503668_719839	506617	GGGGTCAG others(198): Show GGGGTCAGGACAGTGGTTGAGATGGAAGCTGACTTTGTAGAAGAGCATTG GTGACCTTCGAGATCAGGGTCAGGACAGCGGTTGAGATGGAAGCTGACTT TCTAGAAGAGCATTGGTGACCTTCGAGAGCAGGGTCAGGACAGCGGTTGA GATGGAAGCTGACTTTCTAGAAGAGCATTGGTGACCTTCGAGAGCAGGGT CAGGAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0095 a0001c0001t0095	a0001c0001t0095g0147 a0001c0001t0095g0147	1	230	0.0043	-205	c.12 others(13): Show c.12306_*12510del	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding		2050		chr17	TogoVar
VPS53_chr17_503668_719839	506748	GGGTCAGG others(198): Show GGGTCAGGACAGCGGTTGAGATGGAAGCTGACTTTCTAGAAGAGCATTGG TGACCTTCGAGAGCAGGGTCAGGACGGTGGTTGAGATGGAAGCTGACTTT CTAGAAGAGCATTGGTGACCTTCGAAAGCAGGGTCAGGACAGCGGTTGAG ATGGAAGCTGACTTTCTAGAAGAGCACCGGTGACCTTTGAGAGCGGGGTC AGGACA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG01099.hp1 HG01109.hp2 others(33): Show HG00423.hp2 HG01099.hp1 HG01109.hp2 HG01167.hp1 HG01928.hp1 HG01981.hp1 HG02040.hp1 HG02056.hp1 HG02083.hp1 HG02135.hp1 HG02145.hp1 HG02280.hp1 HG02293.hp1 HG02300.hp1 HG02622.hp1 HG02723.hp2 HG03225.hp2 HG03491.hp2 NA18612.hp1 NA18945.hp1 NA18948.hp2 NA18950.hp1 NA18961.hp1 NA18962.hp2 NA18979.hp1 NA18987.hp1 NA19000.hp1 NA19007.hp1 NA19010.hp1 NA19060.hp2 NA19065.hp1 NA19074.hp1 NA19080.hp2 NA19084.hp2 NA19090.hp1 NA20300.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0003c0004	a0001c0001t0015 a0001c0001t0031 a0001c0001t0091 others(20): Show a0001c0001t0015 a0001c0001t0031 a0001c0001t0091 a0001c0001t0092 a0001c0001t0093 a0001c0001t0102 a0001c0002t0005 a0001c0002t0007 a0001c0002t0052 a0001c0002t0054 a0001c0002t0061 a0001c0002t0083 a0002c0003t0008 a0002c0003t0009 a0002c0003t0030 a0002c0003t0082 a0002c0003t0087 a0002c0003t0088 a0002c0003t0089 a0002c0003t0090 a0002c0003t0101 a0002c0003t0142 a0003c0004t0005	a0001c0001t0015g0130 a0001c0001t0015g0131 a0001c0001t0015g0135 others(33): Show a0001c0001t0015g0130 a0001c0001t0015g0131 a0001c0001t0015g0135 a0001c0001t0031g0196 a0001c0001t0031g0197 a0001c0001t0091g0129 a0001c0001t0092g0145 a0001c0001t0093g0146 a0001c0001t0102g0201 a0001c0002t0005g0061 a0001c0002t0005g0065 a0001c0002t0007g0058 a0001c0002t0007g0062 a0001c0002t0007g0081 a0001c0002t0052g0089 a0001c0002t0054g0049 a0001c0002t0061g0052 a0001c0002t0083g0221 a0002c0003t0008g0180 a0002c0003t0008g0182 a0002c0003t0008g0183 a0002c0003t0008g0217 a0002c0003t0009g0185 a0002c0003t0009g0186 a0002c0003t0009g0188 a0002c0003t0009g0218 a0002c0003t0030g0169 a0002c0003t0030g0181 a0002c0003t0082g0184 a0002c0003t0087g0171 a0002c0003t0088g0209 a0002c0003t0089g0190 a0002c0003t0090g0173 a0002c0003t0101g0208 a0002c0003t0142g0191 a0003c0004t0005g0028	36	230	0.1565	-205	c.12 others(13): Show c.12175_*12379del	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding		1919		chr17	TogoVar
ZFPM1_chr16_88448280_88542031	88501079	CGGGGGCC others(198): Show CGGGGGCCCTCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACATGGAT GCGGGGGCCATCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACATGGG TGCGGGGGCCCTCCCGCAGGTGCTGGTGATGATGGAGATAGCGGGTGTGG GTGCATGGGCTCTCCCGCAGGTACTGGTGATGATGGAGATAGTGGGCCTG GGTGCG	C C	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03486.hp2 HG04184.hp2 HG03225.hp1 HG03486.hp2 HG04184.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0008 a0001c0001 a0002c0008	a0001c0001t0002 a0002c0008t0013 a0001c0001t0002 a0002c0008t0013	a0001c0001t0002g0202 a0001c0001t0002g0306 a0002c0008t0013g0122 a0001c0001t0002g0202 a0001c0001t0002g0306 a0002c0008t0013g0122	3	256	0.0117	-205	c.268 others(19): Show c.268+11931_268+12135del	ZFPM1	ENSG00000179588.9	transcript	ENST00000319555.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
ZNF846_chr19_9750357_9773738	9755928	TCTCCTGG others(198): Show TCTCCTGGGTTCACACAATTCTCCTGCCTCAGCCTCCCAAGCAATTGGGA TTAAAGGCACCCGCCACCATACTTGGCTAATTTTTGTATTTTTAGTAGAG ATGAGGTTTAACCATGTTGGCAGGCTGGTCTCAAACTCCTGACCTCAAAT GATCTGCCCACCTCGGCCTCCTAAAGTGCTGGGATTACAAGCATGAGTCA CCACGC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	370	0.0027	-205	c.13 others(11): Show c.1342_*1546del	ZNF846	ENSG00000196605.7	transcript	ENST00000397902.7	protein_coding	6/6	1342		chr19	TogoVar
ABR_chr17_998519_1184981	1153446	TCCAGGCA others(197): Show TCCAGGCACACCTGCGGGAGGGCTGGGGGTCCAGGCACACCTACGGGAGG GCTGGGGGTCCAGGCACACCTGCGGGGAGGGCTGGGGACCCAGGCACACC TGCGGGAGGGCTGGGGGTCCAGGCACACCTGCGGGAGGGCTGGGGACCCA GGCACACCTGCGGGAGGGCTGGGGGTCCAGGCACACCTACGGGAGGGCTG GGGAC	T T	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01070.hp2 HG01071.hp1 others(5): Show HG00735.hp2 HG01070.hp2 HG01071.hp1 HG01106.hp1 HG01346.hp1 HG01358.hp1 HG01433.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0020 a0001c0002t0001	a0001c0001t0001g0082 a0001c0001t0001g0145 a0001c0001t0002g0083 others(5): Show a0001c0001t0001g0082 a0001c0001t0001g0145 a0001c0001t0002g0083 a0001c0001t0003g0061 a0001c0001t0006g0141 a0001c0001t0020g0160 a0001c0002t0001g0050 a0001c0002t0001g0051	8	333	0.0240	-204	c.61+ others(17): Show c.61+26017_61+26220del	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ACAP3_chr1_1287391_1312930	1288775	CCGTGTCT others(197): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGTTCCGTCCCCCGAGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC CCGTGTCCCTGTTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	290	0.0034	-204	c.45 others(11): Show c.4585_*4788del	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3615		chr1	TogoVar
ADAM20_chr14_70517358_70540004	70538989	AAATAAAA others(197): Show AAATAAAAGATGAAATGCTCCTGATTATTGTAAATACAAAATGGCATGCA GGATTGTGTAAAGACAATGCCAGGTTGGACTGCCAGAACGAGCCAACAGT GCATGATGTGCTTCCCCCCACAGAGAGCCTATGAATGGACGTGCAGTCAG AGAGGTTTCACATCACCAATTCCTGTAGGGAGACCCCCTGAAACTACTGC TATGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	398	0.0025	-204	c.-45 others(11): Show c.-4573_-4370del	ADAM20	ENSG00000134007.5	transcript	ENST00000256389.5	protein_coding		3986		chr14	TogoVar
ADARB2_chr10_1172313_1742525	1236396	CCCCCTCT others(197): Show CCCCCTCTGCCTCCCGGTGTTTACTCCCCCCTGCCTCCAGCCATGACCCA GGTGGGGCGGGAGAGTTCCCAGCCTCTCTGATGGTGAATGATTTGCCTGT TGCAAAACTCCCACCAGCTGTGAAGCTGGAGCTGAGCAGCCCCACCTCTG CCCCATCGGAGTGGGCGCTGAACGAACATGCCTGCATTTCCTTCTTCGGT GTTTA	C C	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02109.hp1 HG02080.hp2 HG02109.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0022 a0002c0002t0004 a0001c0001t0022 a0002c0002t0004	a0001c0001t0022g0015 a0002c0002t0004g0095 a0001c0001t0022g0015 a0002c0002t0004g0095	2	106	0.0189	-204	c.136 others(19): Show c.1362-2755_1362-2552del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1236400	CTCTGCCT others(197): Show CTCTGCCTCCCGGTGTTTACTCCCCCCTGCCTCCAGCCATGACCCAGGTG GGGCGGGAGAGTTCCCAGCCTCTCTGATGGTGAATGATTTGCCTGTTGCA AAACTCCCACCAGCTGTGAAGCTGGAGCTGAGCAGCCCCACCTCTGCCCC ATCGGAGTGGGCGCTGAACGAACATGCCTGCATTTCCTTCTTCGGTGTTT ACCCT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 NA19011.hp2 HG01884.hp2 NA19011.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0004 a0001c0001t0001 a0002c0002t0004	a0001c0001t0001g0078 a0002c0002t0004g0088 a0001c0001t0001g0078 a0002c0002t0004g0088	2	99	0.0202	-204	c.136 others(19): Show c.1362-2759_1362-2556del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1460695	AAACCTGC others(197): Show AAACCTGCCTGTGACCTGAATTTACCTGTGTAGCAAACCTGCCTGTGACC TGAGTTTACCTGCGTAACAAACCTGCCTGTGACCTGAGTTTACCTGTGTA GCAAACCTGTCTGTGACCTGAGTTTACCTGTGTAGCAAACCTGCCTGTGA CCTGAGTTTACCTGTGTAACGAACCTGCCTGTGACCTGAGTTTACCTGCG TTACG	A A	intron_variant intron_variant	MODIFIER	HG03209.hp2 NA19086.hp2 HG03209.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0058 a0001c0001t0019 a0001c0001t0058	a0001c0001t0019g0038 a0001c0001t0058g0099 a0001c0001t0019g0038 a0001c0001t0058g0099	2	106	0.0189	-204	c.101 others(19): Show c.101-81739_101-81536del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ADIPOQ_chr3_186837710_186863463	186863259	CCTCTCCC others(197): Show CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCC	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0066 a0001c0001t0066	a0001c0001t0066g0174 a0001c0001t0066g0174	1	482	0.0021	-204	c.85 others(11): Show c.8556_*8759del	ADIPOQ	ENSG00000181092.10	transcript	ENST00000320741.7	protein_coding		4797		chr3	TogoVar
AHRR_chr5_316714_443285	415440	CGGGCGGG others(197): Show CGGGCGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGTGGGAGGCCTAG GGGCCGAGTCTCCCTGGTCGGGTGGGAGGCCTAGGGGCCGAGTCTGCCTG GTCGGGTGGGAGGCCTAGGGGCCGAATCTGCCTGGTCTGCTGGGAGGCCT AGGGGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAATCTGCC TGGTG	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02145.hp2 HG02258.hp2 others(3): Show HG02109.hp2 HG02145.hp2 HG02258.hp2 HG02451.hp2 HG03225.hp2 HG03486.hp2	a0001 a0005 a0006 a0001 a0005 a0006	a0001c0001 a0005c0005 a0006c0006 a0001c0001 a0005c0005 a0006c0006	a0001c0001t0045 a0005c0005t0038 a0006c0006t0021 others(2): Show a0001c0001t0045 a0005c0005t0038 a0006c0006t0021 a0006c0006t0030 a0006c0006t0031	a0001c0001t0045g0252 a0005c0005t0038g0024 a0006c0006t0021g0245 others(3): Show a0001c0001t0045g0252 a0005c0005t0038g0024 a0006c0006t0021g0245 a0006c0006t0021g0246 a0006c0006t0030g0231 a0006c0006t0031g0239	6	197	0.0305	-204	c.441 others(17): Show c.441+2030_441+2233del	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AK8_chr9_132720578_132883284	132812866	ACTCACTG others(197): Show ACTCACTGCCCTGAGCCTACACAGATCACCTCATTCTGTGGCCACCGCAG ACACCCAGGACCAGACCTGCTCACTGCCCTGAGCCTACACAGATCACCTC ATTCTGTGGCCACCGCAGACACCCAGGACCAGACCCGCTCACTGCCCTGC ACCTACAGAGATCACCTCATTCTGTGGCCACCGCAGACACCCAGGACCAG ACCCG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02258.hp1 HG02818.hp2 others(4): Show HG02055.hp1 HG02258.hp1 HG02818.hp2 HG02965.hp2 HG02970.hp2 HG03225.hp2 HG03471.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0009 a0001c0001 a0005c0009	a0001c0001t0001 a0001c0001t0002 a0005c0009t0001 a0001c0001t0001 a0001c0001t0002 a0005c0009t0001	a0001c0001t0001g0190 a0001c0001t0001g0208 a0001c0001t0001g0209 others(4): Show a0001c0001t0001g0190 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0264 a0001c0001t0002g0220 a0005c0009t0001g0265	7	179	0.0391	-204	c.979 others(17): Show c.979+1568_979+1771del	AK8	ENSG00000165695.10	transcript	ENST00000298545.4	protein_coding	10/12			chr9	TogoVar
ARHGAP39_chr8_144524179_144690846	144624580	TCACTGCA others(197): Show TCACTGCACACTGCGGCAGCCCCTGTCCCGGCGGCCCGGTTCACGGAGCA CTCACTGCACACTGCGGCATCCCCTGTCCCGGCGGCCCGGTTCACGGAGC ACTCACTGCACACTGCGGCAGCCCCTGTCCCGGCGGCCCGGTTCACGGAG CACTCACTGCACACTGCGGCAGCCCCTGTCCCCGCGGCCCCGTTCACGGA GCACC	T T	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0240 a0001c0001t0002g0240	1	244	0.0041	-204	c.-81 others(19): Show c.-81-19089_-81-18886del	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	1/11			chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144624733	TCACTGCA others(197): Show TCACTGCACACTGCGGCAGCCCCTGTCCCCGCGGCCCCGTTCACGGAGCA CCCACTGCACACTGCGGCAGCCCCTGTCCCGGCGGCCCCGTTCACGGAGC ACCCACTGCACACTGCGGCATCCCCTGTCCCGGCGGCCCGGTTCACGGAG CACCCACTGCACACTGCGGCAGCCCCTGTCCCGGCGGCCCCGTTCACGGA GCACC	T T	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0017 a0001c0007t0017	a0001c0007t0017g0015 a0001c0007t0017g0015	1	236	0.0042	-204	c.-81 others(19): Show c.-81-19242_-81-19039del	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	1/11			chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144625498	TCACTGCA others(197): Show TCACTGCACACTGCGGCAGCCCCTGTCCCGGCGGCCCCGTTCACGGAGCA CCCACTGCACACTGCGGCAGCCCCTGTCCCGGCGGCCCGGTTCACGGAGC ACCCACTGCACACTGCGGCAGCCCCTGTCCCGGCGGCCCCGTTCACGGAG CACTCACTGCACACTGCGGCAGCCCCTGTCCCGGCGGCCCCGTTCACGGA GCACC	T T	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0017 a0001c0007t0017	a0001c0007t0017g0015 a0001c0007t0017g0015	1	233	0.0043	-204	c.-81 others(19): Show c.-81-20007_-81-19804del	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	1/11			chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144625527	GGCGGCCC others(197): Show GGCGGCCCCGTTCACGGAGCACCCACTGCACACTGCGGCAGCCCCTGTCC CGGCGGCCCGGTTCACGGAGCACCCACTGCACACTGCGGCAGCCCCTGTC CCGGCGGCCCCGTTCACGGAGCACTCACTGCACACTGCGGCAGCCCCTGT CCCGGCGGCCCCGTTCACGGAGCACCCACTGCACACTGCGGCAGCCCCTG TCCCC	G G	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02976.hp2 HG03195.hp1 others(2): Show HG02572.hp1 HG02976.hp2 HG03195.hp1 HG03579.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0014 a0001c0001 a0001c0002 a0001c0014	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0002t0001 a0001c0014t0007	a0001c0001t0001g0237 a0001c0001t0004g0236 a0001c0001t0007g0238 others(2): Show a0001c0001t0001g0237 a0001c0001t0004g0236 a0001c0001t0007g0238 a0001c0002t0001g0221 a0001c0014t0007g0239	5	233	0.0215	-204	c.-81 others(19): Show c.-81-20036_-81-19833del	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	1/11			chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144625702	CCACTGCA others(197): Show CCACTGCACACTGCGGCAGCCCCTGTCCCCGCGGCCCCGTTCACGGAGCA CTCACTGCACACTGCGGCAGCCCCTGTCCCGGCGGCCCCGTTCACGGAGC ACCCACTGCACACTGCGGCAGCCCCTGTCCCGGCGGCCCGGTTCACGGAG CACCCACTGCACACTGCGGCATCCCCTGTCCCGGCGGCCCGGTTCACGGA GCACT	T T	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0166 a0001c0002t0001g0166	1	90	0.0111	-204	c.-81 others(19): Show c.-81-20210_-81-20007del	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	1/11			chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144625841	GGTTCACG others(197): Show GGTTCACGGAGCACCCACTGCACACTGCGGCATCCCCTGTCCCGGCGGCC CGGTTCACGGAGCACTCACTGCACACTGCGGCAGCCCCTGTCCCCGCGGC CCCGTTCACGGAGCACTCACTGCACACTGCGGCAGCCCCTGTCCCGGCGG CCCCGTTCACGGAGCACCCACTGCACACTGCGGCAGCCCCTGTCCCGGCG GCCCC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00323.hp1 others(75): Show HG00099.hp2 HG00280.hp2 HG00323.hp1 HG00438.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp2 HG00735.hp1 HG00741.hp1 HG01070.hp1 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01167.hp2 HG01169.hp2 HG01192.hp2 HG01358.hp2 HG01496.hp1 HG01516.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02027.hp1 HG02148.hp1 HG02155.hp2 HG02257.hp2 HG02280.hp2 HG02300.hp1 HG02486.hp2 HG02683.hp2 HG02723.hp1 HG02735.hp2 HG02738.hp1 HG02922.hp1 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp2 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03927.hp1 HG03927.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18943.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18948.hp1 NA18962.hp2 NA18963.hp1 NA18967.hp2 NA18969.hp2 NA18971.hp2 NA18979.hp1 NA18984.hp2 NA18990.hp1 NA18997.hp2 NA18999.hp2 NA19000.hp1 NA19009.hp1 NA19056.hp2 NA19074.hp2 NA19082.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0012 a0001c0015 a0001c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0002t0001 a0001c0002t0019 a0001c0002t0022 a0001c0002t0023 a0001c0003t0001 a0001c0007t0003 a0001c0012t0002 a0001c0015t0001 a0001c0016t0001	a0001c0001t0001g0056 a0001c0001t0001g0060 a0001c0001t0001g0091 others(75): Show a0001c0001t0001g0056 a0001c0001t0001g0060 a0001c0001t0001g0091 a0001c0001t0001g0098 a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0163 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0002g0121 a0001c0001t0002g0129 a0001c0001t0002g0132 a0001c0001t0002g0135 a0001c0001t0002g0137 a0001c0001t0002g0143 a0001c0001t0002g0169 a0001c0001t0007g0167 a0001c0002t0001g0061 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0083 a0001c0002t0001g0090 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0103 a0001c0002t0001g0104 a0001c0002t0001g0105 a0001c0002t0001g0106 a0001c0002t0001g0107 a0001c0002t0001g0108 a0001c0002t0001g0109 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0113 a0001c0002t0001g0115 a0001c0002t0001g0116 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0134 a0001c0002t0001g0138 a0001c0002t0001g0145 a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0002t0001g0164 a0001c0002t0001g0168 a0001c0002t0001g0199 a0001c0002t0001g0213 a0001c0002t0001g0214 a0001c0002t0001g0216 a0001c0002t0001g0241 a0001c0002t0019g0123 a0001c0002t0022g0215 a0001c0002t0023g0246 a0001c0003t0001g0095 a0001c0007t0003g0085 a0001c0012t0002g0126 a0001c0015t0001g0099 a0001c0016t0001g0084	78	232	0.3362	-204	c.-81 others(19): Show c.-81-20350_-81-20147del	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	1/11			chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144625975	GCCCCTGT others(197): Show GCCCCTGTCCCGGCGGCCCCGTTCACGGAGCACCCACTGCACACTGCGGC AGCCCCTGTCCCGGCGGCCCCGTTCACGGAGCACCCACTGCACACTGCGG CAGCCCCTGTCCCGGCGGCCCCGTTCACGGAGCACTCACTGCACACTGCG GCAGCCCCTGTCCCGGCGGCCCCGTTCACGGAGCACCCACTGCACACTGC GGCAT	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 NA19043.hp2 HG02055.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0210 a0001c0002t0001g0089 a0001c0001t0001g0210 a0001c0002t0001g0089	2	244	0.0082	-204	c.-81 others(19): Show c.-81-20484_-81-20281del	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	1/11			chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1888982	AGGTGTGA others(197): Show AGGTGTGAGGGGTCTACAAGGAGTCACGGAGTGCAGTGAGAGTTGTGAGG AAACATGGAGTGGGGTGCGGGTCATGAGGAGACAGTGATTGGGGTGAGGG GTCCGTGAGGAGACACTGAGTGGGGTGTGAGGGGTCTGTGAGGAGACACT GTGAGTGGGGTGAGGGTTGTGAGGAGACGCTGAGTTGGGGGGTTGTGAGG AGAGC	A A	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0002 a0002	a0002c0024 a0002c0024	a0002c0024t0044 a0002c0024t0044	a0002c0024t0044g0115 a0002c0024t0044g0115	1	346	0.0029	-204	c.118 others(19): Show c.1182+3277_1182+3480del	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	11/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF7_chr13_111110310_111310732	111254586	TCAGAAGA others(197): Show TCAGAAGAGGATTCGGGCTAAGGCGCTGAGTCGCTAACGTGAAGGCCGGG CCCAGAAGAGGATTCGGGCTAAGGCGCTGAGTCGCTAACGTGAAGGCCGG GCCCAGAAGAGGATTCGGGCTAAGGCGCTGAGTCGCTAACGTGAAGGCCG GGCCCAGAAGAGGATTCGGGCTAAGGCGCTGAGTCGCTAACGTGAAGGCC GGGCC	T T	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02818.hp2 HG02886.hp2 others(4): Show HG02809.hp1 HG02818.hp2 HG02886.hp2 HG03041.hp2 HG03471.hp2 NA18906.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0016 a0001c0001 a0001c0016	a0001c0001t0007 a0001c0001t0008 a0001c0016t0008 a0001c0001t0007 a0001c0001t0008 a0001c0016t0008	a0001c0001t0007g0089 a0001c0001t0008g0003 a0001c0001t0008g0009 others(4): Show a0001c0001t0007g0089 a0001c0001t0008g0003 a0001c0001t0008g0009 a0001c0001t0008g0047 a0001c0001t0008g0066 a0001c0001t0008g0106 a0001c0016t0008g0221	7	175	0.0400	-204	c.950 others(19): Show c.950+10700_950+10903del	ARHGEF7	ENSG00000102606.20	transcript	ENST00000646102.2	protein_coding	8/21		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8B1_chr18_57641426_57808315	57642216	CTGGAGTT others(197): Show CTGGAGTTGTTCGTTCCTTCCGGTGGGTTCGTGGTCTCGCTAGCTTCAGG AGTGAAGCTTCAGACCTTCACGGTGAGTGTTACAGCCGTTAAGGTGGCGC GTGTGGAGTTGTTCGTTCCTTCCGGTGGGTTCGTGGTCTCGCTAGCTTCA GGAGTGAAGCTTCAGACCTTCACGGTGAGTGTTACAGCCGTTAAGGTGGC GCGTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0169 a0001c0001t0010g0169	1	271	0.0037	-204	c.60 others(11): Show c.6068_*6271del	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding		4209		chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57642542	CGGTGGGT others(197): Show CGGTGGGTTCGTGGTCTCGCTAGCTTCAGGAGTGAAGCTTCAGACCTTCA CGGTGAGTGTTACAGCCGTTAAGGTGGCGCGTCTGCAGTTGTTCGTTCCT TCCGGTGGGTTCGTGGTCTCGCTAGCTTCAGGAGTGAAGCTTCAGACCTT CACGGTGAGTGTTACAGCCGTGAAGGTGGCGCGTGTGGAGTTGTTCGTTC CTTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 NA20300.hp1 HG03130.hp1 NA20300.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0011c0010 a0001c0001 a0011c0010	a0001c0001t0041 a0011c0010t0033 a0001c0001t0041 a0011c0010t0033	a0001c0001t0041g0192 a0011c0010t0033g0080 a0001c0001t0041g0192 a0011c0010t0033g0080	2	310	0.0065	-204	c.57 others(11): Show c.5742_*5945del	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding		3883		chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57642614	GGTGGCGC others(197): Show GGTGGCGCGTCTGCAGTTGTTCGTTCCTTCCGGTGGGTTCGTGGTCTCGC TAGCTTCAGGAGTGAAGCTTCAGACCTTCACGGTGAGTGTTACAGCCGTG AAGGTGGCGCGTGTGGAGTTGTTCGTTCCTTCTGGTGGGTTCGTGGTCTC GCTAGCTTCAGGAGTGAAGCTTCAGACCTTCACGGTGAGTGTTACAGCCG TTAAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0244 a0001c0001t0003g0244	1	312	0.0032	-204	c.56 others(11): Show c.5670_*5873del	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding		3811		chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57642653	CGTGGTCT others(197): Show CGTGGTCTCGCTAGCTTCAGGAGTGAAGCTTCAGACCTTCACGGTGAGTG TTACAGCCGTGAAGGTGGCGCGTGTGGAGTTGTTCGTTCCTTCTGGTGGG TTCGTGGTCTCGCTAGCTTCAGGAGTGAAGCTTCAGACCTTCACGGTGAG TGTTACAGCCGTTAACGTGGCGCGTCTGGAGTTGTTCGTTCCTTCTGGTG GGTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00544.hp1 others(43): Show HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00621.hp1 HG00621.hp2 HG01099.hp1 HG01109.hp2 HG01167.hp2 HG01169.hp2 HG01261.hp1 HG01358.hp2 HG01361.hp1 HG01516.hp1 HG01993.hp2 HG02071.hp2 HG02074.hp1 HG02602.hp1 HG02602.hp2 HG02698.hp1 HG03834.hp2 HG04115.hp2 HG04199.hp1 HG04228.hp2 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18955.hp1 NA18964.hp2 NA18968.hp2 NA18970.hp1 NA18974.hp1 NA18978.hp1 NA18979.hp1 NA18986.hp2 NA18999.hp1 NA19001.hp1 NA19004.hp1 NA19009.hp2 NA19062.hp2 NA19074.hp1 NA19085.hp1 NA19088.hp1 NA19090.hp2 NA20129.hp1 NA20300.hp2 NA21309.hp2	a0001 a0009 a0010 a0001 a0009 a0010	a0001c0001 a0001c0006 a0009c0008 others(1): Show a0001c0001 a0001c0006 a0009c0008 a0010c0014	a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 a0001c0001t0016 a0001c0001t0017 a0001c0001t0026 a0001c0001t0038 a0001c0001t0044 a0001c0006t0016 a0009c0008t0030 a0010c0014t0017	a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0012 others(43): Show a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0043 a0001c0001t0001g0049 a0001c0001t0001g0053 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0078 a0001c0001t0001g0125 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0003g0194 a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0003g0211 a0001c0001t0003g0233 a0001c0001t0003g0235 a0001c0001t0003g0238 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0003g0241 a0001c0001t0003g0258 a0001c0001t0003g0261 a0001c0001t0003g0264 a0001c0001t0003g0284 a0001c0001t0011g0145 a0001c0001t0011g0147 a0001c0001t0011g0174 a0001c0001t0011g0181 a0001c0001t0011g0184 a0001c0001t0011g0191 a0001c0001t0016g0021 a0001c0001t0016g0027 a0001c0001t0016g0040 a0001c0001t0017g0217 a0001c0001t0017g0222 a0001c0001t0017g0248 a0001c0001t0026g0314 a0001c0001t0038g0190 a0001c0001t0044g0197 a0001c0006t0016g0056 a0009c0008t0030g0007 a0010c0014t0017g0260	46	311	0.1479	-204	c.56 others(11): Show c.5631_*5834del	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding		3772		chr18	TogoVar
B3GNTL1_chr17_82937149_83056770	83052619	AAGGAGGG others(197): Show AAGGAGGGGTGCCCAGGAGTGAGACCCTGACCCCACCAGGAGGTCCCCCA GGAGGAGGGGTGCCCGGGAGTGAGGCCCTGACCCCACCGCGAGGTCCCCC AGGAGGAGGGGTGCCCAGGAGTGAGGCCCTGACCCCACCAGGAGGTCCCC CAGGAGGAGGGGTGCCCGGGAGTGAGGCCCTGACCCCACCGCGAGGTCCC CCAGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0003 a0002c0005t0003	a0002c0005t0003g0156 a0002c0005t0003g0156	1	220	0.0045	-204	c.-10 others(10): Show c.-1072_-869del	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding		850		chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83052767	CCCAGGAG others(197): Show CCCAGGAGGAGGGGTGCCCGGGAGTGAGGCCCTGACCCCACCGCGAGGTC CCCCAGGAGGAGGGGTGCCCAGGAGTGAGACCCTGACCCCACCAGGAGGT CCCCCAGGAGGAGGGGTGCCCGGGAGTGAGGCCCTGACCCCACCGCGAGG TCCCCCAGGAGGAGGGGTGCCCGGGAGTGAGGCCCTGACCCCACCGTGAG GTCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00558.hp1 HG00673.hp2 others(38): Show HG00423.hp1 HG00558.hp1 HG00673.hp2 HG00735.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG02015.hp1 HG02027.hp1 HG02155.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp2 HG02698.hp1 HG02818.hp1 HG02922.hp2 HG03017.hp2 HG03195.hp1 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG04115.hp2 HG04199.hp2 NA18612.hp2 NA18747.hp2 NA18947.hp1 NA18951.hp2 NA18954.hp2 NA18959.hp1 NA18967.hp1 NA18980.hp1 NA18986.hp1 NA18999.hp1 NA19000.hp2 NA19004.hp1 NA19043.hp1 NA19070.hp2 NA19090.hp2 NA19240.hp1 NA20300.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0007	a0001c0003 a0001c0008 a0001c0020 others(3): Show a0001c0003 a0001c0008 a0001c0020 a0002c0010 a0004c0019 a0007c0018	a0001c0003t0004 a0001c0003t0005 a0001c0003t0009 others(14): Show a0001c0003t0004 a0001c0003t0005 a0001c0003t0009 a0001c0003t0014 a0001c0003t0015 a0001c0003t0020 a0001c0003t0021 a0001c0003t0034 a0001c0008t0004 a0001c0008t0005 a0001c0008t0014 a0001c0008t0021 a0001c0008t0038 a0001c0020t0005 a0002c0010t0007 a0004c0019t0004 a0007c0018t0005	a0001c0003t0004g0187 a0001c0003t0004g0189 a0001c0003t0004g0197 others(37): Show a0001c0003t0004g0187 a0001c0003t0004g0189 a0001c0003t0004g0197 a0001c0003t0004g0202 a0001c0003t0004g0219 a0001c0003t0005g0224 a0001c0003t0009g0203 a0001c0003t0009g0205 a0001c0003t0009g0211 a0001c0003t0009g0213 a0001c0003t0009g0214 a0001c0003t0009g0222 a0001c0003t0014g0193 a0001c0003t0015g0194 a0001c0003t0015g0195 a0001c0003t0015g0223 a0001c0003t0020g0188 a0001c0003t0020g0200 a0001c0003t0021g0221 a0001c0003t0034g0201 a0001c0008t0004g0212 a0001c0008t0005g0190 a0001c0008t0005g0191 a0001c0008t0005g0204 a0001c0008t0005g0210 a0001c0008t0005g0225 a0001c0008t0014g0198 a0001c0008t0014g0215 a0001c0008t0021g0216 a0001c0008t0038g0217 a0001c0020t0005g0220 a0002c0010t0007g0005 a0002c0010t0007g0196 a0002c0010t0007g0206 a0002c0010t0007g0207 a0002c0010t0007g0208 a0002c0010t0007g0209 a0002c0010t0007g0218 a0004c0019t0004g0192 a0007c0018t0005g0199	41	132	0.3106	-204	c.-12 others(11): Show c.-1220_-1017del	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding		998		chr17	TogoVar
BCAS3_chr17_60672851_61397831	61045881	ATATTATA others(197): Show ATATTATATATATAATATATATAAATATATATTTATATATATAATATATA TAAATATATATATTATATATATAAATATATATATAATATATATATATTAT ATATATATTTATATATATATAATATATATATTTATATATATATTATATAT ATATTTATATATATATAATATATATATTATATATATATAATATATATATA TTTAT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02818.hp2 HG03209.hp2 others(3): Show HG02145.hp2 HG02818.hp2 HG03209.hp2 HG03579.hp2 NA18906.hp2 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0059 a0001c0002t0001g0065 a0001c0002t0001g0066 others(3): Show a0001c0002t0001g0059 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0002g0068 a0001c0002t0002g0069 a0001c0002t0002g0070	6	70	0.0857	-204	c.202 others(19): Show c.2029+4990_2029+5193del	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	19/23			chr17	TogoVar
BOK_chr2_241553745_241579131	241561418	AGGGTGGC others(197): Show AGGGTGGCCCAGGACAGCGGCCCAGCCAGCCCAGGTGGGAGCGTGGCAGT GCGGGTGGCCCAGGACAGGGGCCCAGCCAGCCCAGGTGGGAGCGTGGCAG TGCGGGTGGCCCAGGACAGCGGCCCAGCCAGCCCAGGTGGGAGCGTGGCA GTGCGGGTGGCCCAGGACAGGGGCCCAGCCAGCCCAGGTGGGAGCGTGGC AGTGC	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00673.hp1 others(24): Show HG00280.hp2 HG00323.hp2 HG00673.hp1 HG01192.hp1 HG01952.hp2 HG01981.hp1 HG01993.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02129.hp1 HG02132.hp2 HG02273.hp1 HG02293.hp2 HG02886.hp1 NA18941.hp2 NA18942.hp2 NA18950.hp2 NA18955.hp2 NA18970.hp1 NA18971.hp2 NA19000.hp1 NA19007.hp1 NA19064.hp1 NA19066.hp2 NA19068.hp2 NA20300.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0003c0004t0005	a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0002g0068 others(20): Show a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0002g0068 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0003g0266 a0001c0001t0005g0260 a0001c0001t0005g0263 a0001c0001t0005g0264 a0001c0001t0005g0265 a0001c0001t0005g0267 a0001c0001t0005g0268 a0001c0001t0005g0269 a0001c0001t0005g0270 a0001c0001t0007g0056 a0001c0001t0010g0055 a0001c0001t0010g0057 a0001c0001t0010g0274 a0001c0001t0010g0275 a0003c0004t0005g0054	27	404	0.0668	-204	c.221 others(15): Show c.221-760_221-557del	BOK	ENSG00000176720.6	transcript	ENST00000318407.5	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
BPHL_chr6_3113711_3158578	3146427	TGGGTCGG others(197): Show TGGGTCGGAGTGCTGGTTTGGGTCGGAGTGCTGGTTCGGGTTGGAGTGCT GGTTCCAGCTGGAGTGCTGGTTTGGGGTGGAGTGCTGGTGTGGGTCGGAG TGCTGGTTTGGGTCGAGTGCTGGTTTGGGTCGGGAGTGCTGGTTCGGGGT GGAGTACTGGTTTGGGTTCGGGGTGGAGTGCTGGTTCAGGGTGGAGTGCT GGTTC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(161): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00673.hp2 HG00738.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01261.hp1 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01978.hp2 HG01993.hp1 HG02015.hp2 HG02027.hp2 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02622.hp1 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02818.hp2 HG02965.hp2 HG02970.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03239.hp1 HG03471.hp1 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG04204.hp1 HG04228.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18946.hp2 NA18948.hp2 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18986.hp1 NA18988.hp1 NA18989.hp1 NA18990.hp1 NA18992.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18999.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19012.hp1 NA19043.hp2 NA19054.hp1 NA19056.hp2 NA19058.hp2 NA19060.hp1 NA19063.hp2 NA19064.hp2 NA19082.hp1 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA20129.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0010 a0003c0006 a0004c0007	a0001c0001t0001 a0001c0001t0008 a0001c0001t0010 others(7): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0002t0003 a0001c0004t0015 a0001c0010t0001 a0003c0006t0001 a0004c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(107): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0038 a0001c0001t0001g0045 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0072 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0108 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0196 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0244 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0008g0166 a0001c0001t0010g0038 a0001c0001t0011g0001 a0001c0001t0013g0052 a0001c0002t0003g0043 a0001c0002t0003g0234 a0001c0002t0003g0236 a0001c0004t0015g0231 a0001c0010t0001g0225 a0003c0006t0001g0219 a0004c0007t0001g0010	164	348	0.4713	-204	c.788 others(17): Show c.788+5936_789-5840del	BPHL	ENSG00000137274.13	transcript	ENST00000380379.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
BRF1_chr14_105204286_105306001	105230643	CGTAGTCG others(197): Show CGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGCCCCGTGGCACC CTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACACCACTGTC CGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGCCCCGTGGCA CCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACACCACTG TCCGT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0015 a0001c0001t0002g0015	1	70	0.0143	-204	c.695 others(17): Show c.695-1934_695-1731del	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105232819	GCAGCCCT others(197): Show GCAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAG AGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCC TGACAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAG AGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAG CCTGA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02273.hp1 HG02559.hp2 HG01891.hp1 HG02273.hp1 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0001 a0001c0001t0002 a0001c0001t0008	a0001c0001t0001g0043 a0001c0001t0002g0045 a0001c0001t0008g0070 a0001c0001t0001g0043 a0001c0001t0002g0045 a0001c0001t0008g0070	3	66	0.0455	-204	c.695 others(17): Show c.695-4110_695-3907del	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105234718	GTCCGCGT others(197): Show GTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGCCCTGTG GCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACACCA CTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGACAGCCCTG TGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACAC CACTA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01891.hp1 HG00323.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0011 a0001c0001t0008g0070 a0001c0001t0001g0011 a0001c0001t0008g0070	2	68	0.0294	-204	c.695 others(17): Show c.695-6009_695-5806del	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105235228	GTCCGCGT others(197): Show GTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGCCCTGTG GCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACACCA CTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGACAGCCCTG TGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACAC CACTA	G G	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	69	0.0145	-204	c.694 others(17): Show c.694+5833_694+6036del	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105238287	GTCCGCGT others(197): Show GTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGCCCTGTG GCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACACCA CTATCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGCCCTG TGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACAC CACTA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01123.hp1 HG02258.hp2 others(1): Show HG00323.hp1 HG01123.hp1 HG02258.hp2 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0011 a0001c0001t0001g0043 a0001c0001t0001g0050 others(1): Show a0001c0001t0001g0011 a0001c0001t0001g0043 a0001c0001t0001g0050 a0001c0001t0007g0071	4	68	0.0588	-204	c.694 others(17): Show c.694+2774_694+2977del	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105239244	GCAGCCCT others(197): Show GCAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAG AGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCC TGGCAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAG AGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAG CCTGA	G G	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0034 a0001c0001t0003g0034	1	42	0.0238	-204	c.694 others(17): Show c.694+1817_694+2020del	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar

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