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
CCNF_chr16_2424447_2463854	2442435	ATATAATA others(174): Show ATATAATATATAATATTATATAATATAATATTATTATATATAATATATAA TATTATATAATATAATATTATTATATATAATATATAATATTATATAATAT AATATTATTATATATAATATATAATATTATATAATATAATATTATTATAT ATAATATATAATATTATATAATATAATATTAT	A A	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02970.hp1 HG03579.hp2 HG02922.hp2 HG02970.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0243 a0001c0001t0004g0244 a0001c0001t0004g0245 a0001c0001t0004g0243 a0001c0001t0004g0244 a0001c0001t0004g0245	3	87	0.0345	-181	c.778 others(17): Show c.778-1213_778-1033del	CCNF	ENSG00000162063.13	transcript	ENST00000397066.9	protein_coding	8/16			chr16	TogoVar
CDH4_chr20_61247261_61945617	61945436	CGACTGTC others(174): Show CGACTGTCTGCACCGTGGCCGCCCTTTCTGACTGATGATAAGGAACATTG CGACTGTCTGCACCGTGGCTGCCCCTTCTCACCAACGCTGAGGAGCACTG CAACCATCTGCACCGTGGCCGCCCCTTCTCACCGATGATGAGGAACATTG AGACTGTCTGCCCCGTGGCTGCCCCTTCTCAC	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG01123.hp2 HG02451.hp1 others(3): Show HG00639.hp2 HG01123.hp2 HG02451.hp1 HG02451.hp2 HG02723.hp2 HG02965.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0014 a0001c0001 a0001c0003 a0002c0014	a0001c0001t0002 a0001c0001t0017 a0001c0001t0030 others(2): Show a0001c0001t0002 a0001c0001t0017 a0001c0001t0030 a0001c0003t0001 a0002c0014t0001	a0001c0001t0002g0075 a0001c0001t0002g0077 a0001c0001t0017g0039 others(3): Show a0001c0001t0002g0075 a0001c0001t0002g0077 a0001c0001t0017g0039 a0001c0001t0030g0089 a0001c0003t0001g0015 a0002c0014t0001g0090	6	89	0.0674	-181	c.84 others(11): Show c.8494_*8674del	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding		4820		chr20	TogoVar
COL4A2_chr13_110302284_110518209	110481622	GTTGCTGG others(174): Show GTTGCTGGAGACACACTGTTCTGTCCTTCCGTTGCTGGAGACACACAGTT CTGTCCTTCCATTGCTGGAGACACACTGTTCTGTCCTTCCATTGCTGGAG ACACACTGTTCTGTCCCTCCGTTGCTGGAGACACACAGTTCTGTCCCTCC ATTGCTGGAGACACACTGCTCTGTCCCTCCGT	G G	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0010 a0010	a0010c0042 a0010c0042	a0010c0042t0002 a0010c0042t0002	a0010c0042t0002g0315 a0010c0042t0002g0315	1	250	0.0040	-181	c.275 others(17): Show c.2759-892_2759-712del	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	31/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
CPNE7_chr16_89570758_89602246	89587951	CCGTGTTA others(174): Show CCGTGTTACCCACAGATACACGGCCCCCGTGTCACCCACAGATACACGGC CCCCCGTGTTACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCAC CCACAGATACACGGCCCCCCGTGTTACCCACAGATACACGGCCCCCGTGT CACCCACAGATACACGGCCCCCGTGTCACCCG	C C	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0329 a0001c0002t0002g0329	1	269	0.0037	-181	c.928 others(15): Show c.928-718_928-538del	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
DACH1_chr13_71432966_71872204	71734709	CCCCATAT others(174): Show CCCCATATATATGTATATCCCATATACGTATACCCCATATATATGTATAT CCCATATACGTATACCCCATATATATGTATATCCCATATACGTATACCCC ATATATATGTATATCCCATATACGTATACCCCATATATATGTATATCCCA TATACGTATACCCCATATACATATACGTATAT	C C	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG02572.hp1 NA19030.hp1 HG01978.hp2 HG02572.hp1 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0002 a0001c0001 a0001c0006 a0002c0002	a0001c0001t0001 a0001c0006t0001 a0002c0002t0001 a0001c0001t0001 a0001c0006t0001 a0002c0002t0001	a0001c0001t0001g0008 a0001c0006t0001g0057 a0002c0002t0001g0090 a0001c0001t0001g0008 a0001c0006t0001g0057 a0002c0002t0001g0090	3	67	0.0448	-181	c.849 others(19): Show c.849-52980_849-52800del	DACH1	ENSG00000276644.5	transcript	ENST00000613252.5	protein_coding	1/10			chr13	TogoVar
DHRSX_chrX_2214506_2505976	2277158	GAAAGAGA others(174): Show GAAAGAGAGAAAGAGAGATGGAGAGGGAACAGGGAGAGAGAGGGAGGGCA AACGAGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAA AGAGAGATGGAGAGGGAACAGGGAGAGAGAGGGAGGGCAAACGAGAGAGG GAGAGAGAAGGAAGAGGAGGAAATGGGGGAAA	G G	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	48	0.0208	-181	c.389 others(19): Show c.389-10392_389-10212del	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	4/6			chrX	TogoVar
DLGAP2_chr8_732628_1713476	1235673	CTCTCACA others(174): Show CTCTCACATGGCGCCATGTCTAGTTCTCTCACATGGCGCCGTATCTAGTT CTCTCACATGGTGCCATATCTAGTTCTCTCTCACGCATAGCATCATGTCT AGTTCTGTCTCACACAGAGCATCGTGTCTAGTTCTCTCACATGGCGCCGT GTCCAGTTCTGTCACATGGCTCCGTGTCTGGT	C C	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0008 a0001c0002t0010g0008	1	40	0.0250	-181	c.74- others(17): Show c.74-23173_74-22993del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DPP6_chr7_154047398_154899285	154657308	GGTGGGTG others(174): Show GGTGGGTGGAGAGGCTGCGTGGGAGGAGGTGCTCATGGGTGGGTGGAGAG GCTGCGTGGGAGGAGATGCTCGAGTGGGTGGAGAGGCTGCGTTGGAGGAG GTGCTCATGGGTGGGTGGAGAGGCTGCGTGGGAGGAGGTGCTCATGGGTG GGTGGAGAGGCTGCGTGGGAGGAGATGCTCGA	G G	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03579.hp2 HG02965.hp1 HG03579.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0014 a0001c0003 a0002c0014	a0001c0003t0008 a0002c0014t0025 a0001c0003t0008 a0002c0014t0025	a0001c0003t0008g0025 a0002c0014t0025g0029 a0001c0003t0008g0025 a0002c0014t0025g0029	2	38	0.0526	-181	c.681 others(19): Show c.681-11987_681-11807del	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	6/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
DYNLT2B_chr3_196286219_196323240	196317188	GTGTGTGT others(174): Show GTGTGTGTGTAAAGTTAGTGATCTTACAAACCTAGCTGAGTACCCTCTGC TCTGGCCCGTGAGCCTGACATTTTTTTTCAGTGTGTGTGTGTGTTGTGTG TGTGTGTGTGTGTAAAGTTAGTGATCTTACAAACCTAGCTGAGTACCCTC TGCTCTGGCCCGTGAGCCTGATATTTTTTTCA	G G	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02083.hp2 HG02027.hp1 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0136 a0001c0001t0001g0137	2	328	0.0061	-181	c.113 others(15): Show c.113+671_113+851del	DYNLT2B	ENSG00000213123.11	transcript	ENST00000325318.10	protein_coding	1/4			chr3	TogoVar
EFNB1_chrX_68824021_68847160	68825412	CACACACT others(174): Show CACACACTCCTTTCCACAGCCTTGGTATATCAGTGTGGCCTAGTTTACAT CCTGACTTTTCCACTTCCTGGCTGGGTGGCCTTAGGTGAGTTATTTCACC TCTCTGTGTCTCAGAGTGCAAGGCAGGCAGGGAGAAGTCAAGGACAAGGG CCACAGAAATAGAAAGGTGTGTGCATGTTCAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01361.hp1 others(2): Show HG01070.hp1 HG01071.hp1 HG01361.hp1 HG01952.hp1 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	5	333	0.0150	-181	c.-43 others(11): Show c.-4364_-4184del	EFNB1	ENSG00000090776.6	transcript	ENST00000204961.5	protein_coding		3608		chrX	TogoVar
ENTPD8_chr9_137429364_137446357	137440892	CCCCCCAG others(174): Show CCCCCCAGACCAGGACAGCCCCCCAGACCAGGACAGCCCCCCCAGACCAG GACACCCCCTCAGACAGAACAGTCCCCCAGACCAGGACAGCCCCCCCAGA CCAGGACAGCCCCCCAGACCAGGACAGCCCCCCCAGACCAGGACAGCCCC CCAGACCAGGACAGCCCCCCAGACCAGGACAG	C C	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	326	0.0031	-181	c.-21 others(15): Show c.-21+213_-21+393del	ENTPD8	ENSG00000188833.10	transcript	ENST00000371506.7	protein_coding	1/9			chr9	TogoVar
ENTPD8_chr9_137429364_137446357	137441056	CCCCCCAG others(174): Show CCCCCCAGACCAGGACAGCCCCCCAGACCAGGACAGCCCCCCCAGACCAG GACACCCCCTCAGACAGAACAGTCCCCCAGACCAGGACAGCCCCCCCAGA CCAGGACAGCCCCCCAGACCAGGACAGCCCCCCCAGACCAGGACAGCCCC CCAGACCAGGACAGCCCCCCAGACCAGGACAG	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	390	0.0026	-181	c.-21 others(14): Show c.-21+49_-21+229del	ENTPD8	ENSG00000188833.10	transcript	ENST00000371506.7	protein_coding	1/9			chr9	TogoVar
ERFL_chr19_41902704_41933449	41914676	TTCCACCA others(174): Show TTCCACCATCTCTGTCTCTCCCTCCCCTTCCACCATCTCTGTCTCTCCCT CCCCTTCCACCATCTCTGTCTCTCCCTCCCCTTCCACCGTCTCTGTCTCT CCCTCCCCTTCCACCGTCTCTGTCTCTCCCTCCCCCTCCACCGTGTCTCC CCCCCTTTCCACCGTCTCTGTCTCTCCCCCCC	T T	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0035 a0001c0001t0003g0035	1	231	0.0043	-181	c.-13 others(17): Show c.-13-1925_-13-1745del	ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	1/5			chr19	TogoVar
FAM174B_chr15_92612448_92660775	92631225	ATATAATA others(174): Show ATATAATATATTATATATTATATTATATATAATATATTATATATTATATT ATATATAATATATTATATATTATATATAATATATTATATATAATATTATA TATAATATATTATATATTATATATAATATATTATATATTATATTATATAT AATATATTATATATTATATATTATATTATATT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02572.hp2 HG02615.hp2 others(6): Show HG01891.hp1 HG02572.hp2 HG02615.hp2 HG02630.hp2 HG02809.hp2 HG02965.hp1 HG03195.hp1 NA18522.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0001t0009 a0001c0003t0002 a0001c0001t0003 a0001c0001t0009 a0001c0003t0002	a0001c0001t0003g0002 a0001c0001t0003g0020 a0001c0001t0009g0021 others(4): Show a0001c0001t0003g0002 a0001c0001t0003g0020 a0001c0001t0009g0021 a0001c0003t0002g0001 a0001c0003t0002g0016 a0001c0003t0002g0017 a0001c0003t0002g0018	9	390	0.0231	-181	c.345 others(16): Show c.345-1061_345-881del	FAM174B	ENSG00000185442.13	transcript	ENST00000327355.6	protein_coding	1/2			chr15	TogoVar
FAM53A_chr4_1634887_1689313	1641086	GTGGCCCC others(174): Show GTGGCCCCGACCAGCTCACAGGAAACCTACTCTGTGCCCCAGGGCAGGTG CCGGCGGCAGCCGTGGCCCCGACCAGCTCACAGGAAACCTACTCTGTGCC CCAGGGCAGGTGCCGGGCCGTGGCCCCGACCAGCTCACAGGAAACCTACT CTGTGCCCCAGGGCAGGTGCAGGCGGCAGCCA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02145.hp2 HG02922.hp1 HG02145.hp2 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0132 a0001c0001t0022g0157 a0001c0001t0022g0132 a0001c0001t0022g0157	2	348	0.0057	-181	c.26 others(8): Show c.26_*206del	FAM53A	ENSG00000174137.14	transcript	ENST00000308132.11	protein_coding	5/5	26		chr4	TogoVar
GAL3ST2_chr2_241771822_241809287	241805859	CTCCCTCC others(174): Show CTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCC CTCAGCCCAGGAACCTCCGCAGACCACCTTCCCTCCCCCCTCAGCCCAGG GACCTCCTCCCTCCCCCCTCAGCCCAAGGGACCTAGGCAGGCCACCCTCC CCCCTCAGCCCAGGAACCTCCGCAGGCCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp2 NA18947.hp2 NA18906.hp2 NA18947.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0014 a0001c0001 a0002c0014	a0001c0001t0002 a0002c0014t0002 a0001c0001t0002 a0002c0014t0002	a0001c0001t0002g0159 a0002c0014t0002g0014 a0001c0001t0002g0159 a0002c0014t0002g0014	2	293	0.0068	-181	c.16 others(11): Show c.1694_*1874del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1573		chr2	TogoVar
IGF2BP3_chr7_23305209_23475491	23378554	GGCTAATT others(174): Show GGCTAATTTTTGCTTGTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTC TCGCTCTGTCGCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTTACTGCC ACCTCCGCCTCCCAGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGTGCACGCCACCATGCCCA	G G	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0008 a0001c0001t0006g0008	1	228	0.0044	-181	c.286 others(19): Show c.286-16994_286-16814del	IGF2BP3	ENSG00000136231.14	transcript	ENST00000258729.8	protein_coding	3/14			chr7	TogoVar
IPCEF1_chr6_154149496_154361803	154357686	ATTATATA others(174): Show ATTATATATAATATATATATTATATATATATTATATATATAATATATATA TTATATATATTATATATATATAATATATAAAATATATATATTATATATAT AAAATATATATAATATATATAATATATATATAAAATATATATAATATATA TAATATATATATAAAATATATATATAAAATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0038 a0001c0001t0006g0038	1	218	0.0046	-181	c.-12 others(11): Show c.-1257_-1077del	IPCEF1	ENSG00000074706.14	transcript	ENST00000367220.9	protein_coding		884		chr6	TogoVar
JPH2_chr20_44101590_44192188	44133962	TATATTAT others(174): Show TATATTATAATATATAAATATATATTATTATAAATATATATAAATATATA TATTATAAATATATATAAATATATATTTATATATAAATATATATTTATTA TAAATATATAAATATATATTTATTATAAATATATATTTATTATAAATATA TAAATAAATATTTATTATAAATATATAAATAA	T T	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0079 a0001c0007t0079	a0001c0007t0079g0183 a0001c0007t0079g0183	1	310	0.0032	-181	c.117 others(21): Show c.1170-15520_1170-15340del	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
KNDC1_chr10_133155219_133231412	133208395	GTGGCCCC others(174): Show GTGGCCCCCCAACCCCGTTACCCCAAGGACCCTCTAGAGAGGGATGTGGC CCCCCCAACCCCGTTACCCCAAGGACCCTCTAGAGAGGGACGTGGGCCCC CAACCCCGTTACCCCAAGGACCCTCTAGAGAGGGACGTGGCCCCCCCAAC CCCGTTACCCCAAGGACCCTCTAGAGAGGGAC	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02976.hp2 HG03195.hp1 others(1): Show HG02109.hp1 HG02976.hp2 HG03195.hp1 HG03516.hp2	a0001 a0026 a0001 a0026	a0001c0001 a0026c0030 a0001c0001 a0026c0030	a0001c0001t0001 a0026c0030t0008 a0001c0001t0001 a0026c0030t0008	a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 others(1): Show a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0026c0030t0008g0306	4	330	0.0121	-181	c.379 others(19): Show c.3794+1045_3794+1225del	KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding	20/29			chr10	TogoVar
LATS2_chr13_20968036_21066586	21007542	ATAGTATA others(174): Show ATAGTATATATATATATATATATATATATATATATATATATATATAGTAT ATATATATATAGTGTGTATATATATATATAGTGTATATATATATATATAT ATAGTGTGTGTATATATATATAGTGTGTATATATATATATAGTATATATA TATATATAGTATGTATATATATATATATATAG	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01358.hp1 HG01496.hp2 others(12): Show HG00735.hp1 HG01358.hp1 HG01496.hp2 HG01943.hp2 HG02145.hp2 HG02559.hp2 HG02886.hp2 NA18969.hp1 NA18991.hp2 NA18999.hp2 NA19011.hp1 NA19012.hp2 NA19064.hp1 NA19079.hp2 NA19240.hp2	a0002 a0005 a0002 a0005	a0002c0002 a0002c0006 a0005c0012 a0002c0002 a0002c0006 a0005c0012	a0002c0002t0011 a0002c0006t0004 a0005c0012t0001 others(1): Show a0002c0002t0011 a0002c0006t0004 a0005c0012t0001 a0005c0012t0002	a0002c0002t0011g0036 a0002c0006t0004g0014 a0002c0006t0004g0015 others(12): Show a0002c0002t0011g0036 a0002c0006t0004g0014 a0002c0006t0004g0015 a0002c0006t0004g0018 a0002c0006t0004g0022 a0002c0006t0004g0023 a0002c0006t0004g0024 a0002c0006t0004g0025 a0002c0006t0004g0169 a0002c0006t0004g0210 a0002c0006t0004g0211 a0002c0006t0004g0217 a0005c0012t0001g0035 a0005c0012t0002g0030 a0005c0012t0002g0034	15	314	0.0478	-181	c.343 others(19): Show c.343-16319_343-16139del	LATS2	ENSG00000150457.9	transcript	ENST00000382592.5	protein_coding	2/7			chr13	TogoVar
LDLRAD4_chr18_13213760_13657751	13507920	AGGCAGGT others(174): Show AGGCAGGTTGAAAGCCTGGTAGTCTGAAAGCTAGGCCTCTCATGCCAAAC AGTTAGCCAAGTTATGAATGCAAAGGAAAAGTTCTTGAAGGAAATTAAAA GTGCTACTCCAGTGAACACACAAATGATAAGAAAGCAAAACAGCCTCATT GTTGACATGAAGAAAGTTTAAGTGGTCTGGAT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02257.hp2 HG02451.hp1 others(3): Show HG01884.hp2 HG02257.hp2 HG02451.hp1 HG02922.hp2 HG02976.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 others(3): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0020 a0001c0001t0054 a0001c0001t0069	a0001c0001t0002g0163 a0001c0001t0005g0177 a0001c0001t0007g0073 others(3): Show a0001c0001t0002g0163 a0001c0001t0005g0177 a0001c0001t0007g0073 a0001c0001t0020g0178 a0001c0001t0054g0076 a0001c0001t0069g0172	6	176	0.0341	-181	c.181 others(19): Show c.181+69537_181+69717del	LDLRAD4	ENSG00000168675.19	transcript	ENST00000359446.11	protein_coding	4/6			chr18	TogoVar
MAP3K15_chrX_19355059_19520508	19452170	GAAGAGAA others(174): Show GAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGA GAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGA GAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGA GAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGA	G G	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0095 a0003c0004t0001g0095	1	161	0.0062	-181	c.995 others(17): Show c.995+4562_995+4742del	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	6/28			chrX	TogoVar
MAP3K15_chrX_19355059_19520508	19452200	GAAGAGAA others(174): Show GAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGA GAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGA GAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGA GAAAGAGAAGAGAAGAGAAGAGAAGAGAGAAA	G G	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0096 a0002c0002t0002g0096	1	160	0.0063	-181	c.995 others(17): Show c.995+4532_995+4712del	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	6/28			chrX	TogoVar
MAPK8IP3_chr16_1701195_1775351	1761486	CCACCATT others(174): Show CCACCATTCACCATTCACAGGCGGGGCGGCCACCATTCACCATTCACAGG CAGGGCGGCCGCCATTCACCATTCACACACAGGGCGACCACCATTCACCA TTCACAGGCAGAGCGGCCACCATTCACCATTCACAGGCGGGGCGGCCACC ATTCACCATTCACAGGCGGGGCGGCCACCATT	C C	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03540.hp2 HG02976.hp2 HG03540.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0046 a0002c0002t0001g0259 a0002c0002t0001g0046 a0002c0002t0001g0259	2	328	0.0061	-181	c.153 others(17): Show c.1539+192_1539+372del	MAPK8IP3	ENSG00000138834.15	transcript	ENST00000610761.2	protein_coding	13/31		INFO_REALIGN_3_PRIME	chr16	TogoVar
MBD3L4_chr19_7032749_7045179	7035844	ATATATAA others(174): Show ATATATAATATAATTATATAACATATAAATTATATTATATATAATATAAT TCTATAACATATAAATTATATTATATATAATATAATTATATAACATATAA ATTATATTATATATAATATAATTATATAACATATAAATTATATTATATAT AATATAATTATATAACATATAAATTATATTAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp2 NA19003.hp1 NA19062.hp2 HG03491.hp2 NA19003.hp1 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	258	0.0116	-181	c.18 others(11): Show c.1836_*2016del	MBD3L4	ENSG00000205718.10	transcript	ENST00000381394.9	protein_coding		1904		chr19	TogoVar
MBD3L5_chr19_7025578_7038011	7035844	ATATATAA others(174): Show ATATATAATATAATTATATAACATATAAATTATATTATATATAATATAAT TCTATAACATATAAATTATATTATATATAATATAATTATATAACATATAA ATTATATTATATATAATATAATTATATAACATATAAATTATATTATATAT AATATAATTATATAACATATAAATTATATTAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 HG03491.hp2 NA19003.hp1 others(1): Show HG03139.hp1 HG03491.hp2 NA19003.hp1 NA19090.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0015 a0002c0008 a0001c0001 a0001c0015 a0002c0008	a0001c0001t0002 a0001c0015t0002 a0002c0008t0002 a0001c0001t0002 a0001c0015t0002 a0002c0008t0002	a0001c0001t0002g0034 a0001c0001t0002g0039 a0001c0015t0002g0038 others(1): Show a0001c0001t0002g0034 a0001c0001t0002g0039 a0001c0015t0002g0038 a0002c0008t0002g0006	4	245	0.0163	-181	c.29 others(11): Show c.2951_*3131del	MBD3L5	ENSG00000237247.6	transcript	ENST00000329753.5	protein_coding		2834		chr19	TogoVar
MELTF_chr3_196996740_197034817	197032568	ACTGGTTG others(174): Show ACTGGTTGTGGTGTGAGCACCTGCAGTAGTGTGATGTCAGAGGATGTTAC CCTCTTGCTGACTTGTTGGGGTGTGAGCACCTGAAGTAGTGTGATGTCAG AGGATGTTACACTCTTGCTGATGGGTTGGGGTGTGAGCACCTGCAGTCGT GTGATGTCAGAAGATTTTACACTCTTGCTGAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0016 a0016	a0016c0028 a0016c0028	a0016c0028t0041 a0016c0028t0041	a0016c0028t0041g0233 a0016c0028t0041g0233	1	418	0.0024	-181	c.-30 others(11): Show c.-3047_-2867del	MELTF	ENSG00000163975.14	transcript	ENST00000296350.10	protein_coding		2752		chr3	TogoVar
MYOM2_chr8_2040046_2150456	2085493	TCACTGTT others(174): Show TCACTGTTGTGATCTCCGCGTGGCCCCCCACTGTTGTGATCTCTGCGTGG CCCCACTGTCATGATCTCTGCGTGGCCCCACTGTTGTGATCTCTGCGTGG CCCCACTGTCGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTTGT GGCCCCCCACTGTCGTGATCTCTGCGTGGCCC	T T	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0013 a0013	a0013c0182 a0013c0182	a0013c0182t0002 a0013c0182t0002	a0013c0182t0002g0069 a0013c0182t0002g0069	1	376	0.0027	-181	c.164 others(17): Show c.1644+110_1644+290del	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2085538	CGTGGCCC others(174): Show CGTGGCCCCACTGTCATGATCTCTGCGTGGCCCCACTGTTGTGATCTCTG CGTGGCCCCACTGTCGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTC TTTGTGGCCCCCCACTGTCGTGATCTCTGCGTGGCCCCACTGTCGTGATC TCTGCGTGGCCCCCCACTGTCGTGATCTCTTT	C C	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0002 a0001c0024t0002	a0001c0024t0002g0333 a0001c0024t0002g0333	1	369	0.0027	-181	c.164 others(17): Show c.1644+157_1644+337del	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
NEU4_chr2_241804193_241822413	241805859	CTCCCTCC others(174): Show CTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCC CTCAGCCCAGGAACCTCCGCAGACCACCTTCCCTCCCCCCTCAGCCCAGG GACCTCCTCCCTCCCCCCTCAGCCCAAGGGACCTAGGCAGGCCACCCTCC CCCCTCAGCCCAGGAACCTCCGCAGGCCACCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp1 NA18947.hp1 HG01261.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0030 a0001c0002t0001g0079 a0001c0001t0001g0030 a0001c0002t0001g0079	2	304	0.0066	-181	c.-34 others(11): Show c.-3418_-3238del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3333		chr2	TogoVar
NFATC1_chr18_79390930_79534323	79521115	GGGGCGTC others(174): Show GGGGCGTCTGCTGATGTGTGTGTCTGTGTGTGTGTGTAGGGGGGGAGCAT CCACTGATGTGTGTCCATGTGTGTGTGGGGGCATCAGCTGATATGTGTGT CTGTGTGTGGGGGGTGGAGCATCCACTGATGTGTGTCCATGTGTGTGTGG GGGCATCCGCTGATGTGTGTGTCTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02300.hp2 NA20752.hp2 HG00733.hp2 HG02300.hp2 NA20752.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0008 a0003c0007t0024 a0003c0007t0008 a0003c0007t0024	a0003c0007t0008g0029 a0003c0007t0008g0031 a0003c0007t0024g0149 a0003c0007t0008g0029 a0003c0007t0008g0031 a0003c0007t0024g0149	3	320	0.0094	-181	c.278 others(19): Show c.2783-6409_2783-6229del	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NLRP4_chr19_55831540_55886855	55851407	TTACGAGG others(174): Show TTACGAGGCTGCGGTGTAATTTACGAGGCTGCGGTGTAATGTCCGTGGCT GCGGTGTAATGTCCGAGGCTGCGGTGTAATGTCCGTGGCTGCGGTGTAAT GTCCGTGGCTGCGGTGTAATTTACCGAGGCTGCGGTGTAATGTCCGTGGC TGCGGTGTAATGTCCGAGGCTGCGGTGTAATG	T T	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG03516.hp2 HG01192.hp1 HG03516.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0045 a0001c0001 a0002c0045	a0001c0001t0008 a0002c0045t0008 a0001c0001t0008 a0002c0045t0008	a0001c0001t0008g0329 a0002c0045t0008g0327 a0001c0001t0008g0329 a0002c0045t0008g0327	2	314	0.0064	-181	c.-65 others(15): Show c.-65-607_-65-427del	NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
NPM1_chr5_171382849_171415900	171404072	GCCGGGCG others(174): Show GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGCACGGCTGG CCAGGTGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGCACGGCTGGC CGGTCGGGGGGGCTGACCCCCCACCTCCCTCCCAGATAGGGCGGCTGGCC GGGCGGGGGGTTGACCCCCCCCCACCTCCCTC	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00423.hp1 others(198): Show HG00140.hp1 HG00323.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp2 HG01123.hp2 HG01167.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01884.hp2 HG01928.hp1 HG01952.hp2 HG01978.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02071.hp1 HG02074.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02451.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp2 HG02622.hp2 HG02630.hp2 HG02683.hp1 HG02717.hp1 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02896.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03491.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03669.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03942.hp1 HG04184.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18949.hp2 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp2 NA18966.hp2 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18971.hp2 NA18972.hp1 NA18973.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp2 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp2 NA18993.hp2 NA18994.hp1 NA18995.hp2 NA18997.hp1 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19064.hp1 NA19064.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp2 NA19079.hp1 NA19080.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19087.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009	a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0011 others(98): Show a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0001g0029 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0164 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0007 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0026 a0001c0001t0002g0028 a0001c0001t0002g0046 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0055 a0001c0001t0002g0157 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0003g0002 a0001c0001t0003g0007 a0001c0001t0003g0020 a0001c0001t0003g0027 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0169 a0001c0001t0003g0181 a0001c0001t0003g0182 a0001c0001t0003g0189 a0001c0001t0003g0209 a0001c0001t0004g0195 a0001c0001t0005g0043 a0001c0001t0006g0197 a0001c0001t0007g0020 a0001c0001t0008g0142 a0001c0001t0009g0192	201	400	0.5025	-181	c.670 others(17): Show c.670-1225_670-1045del	NPM1	ENSG00000181163.14	transcript	ENST00000296930.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
NXN_chr17_794310_984776	894135	CAAACGCC others(174): Show CAAACGCCCTGGAAGCCAGAGGAAGCATCTCAAACGCCCTGGAAGCCAGA GGAAGCATCTCAAACGCCCTGGAAGCCAGAGGAAGCATCTCAAACGCCCT GGAAGCCAGAGGAAGCATCTCAAACGCCCTGGAAGCCAGAGGAAGCATCT CAAACGCCCTGGAAGCCAGAGGAAGCATCTCA	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03491.hp2 HG03492.hp2 HG02109.hp1 HG03491.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0033 a0001c0001t0001g0145 a0001c0001t0001g0146	3	177	0.0169	-181	c.361 others(19): Show c.361-68238_361-68058del	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
P2RX5_chr17_3668227_3701155	3685659	CCAGCCTG others(174): Show CCAGCCTGAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCA ACGTCCCCCTCCCAGCCTGAGAACAGGAGAACGCACAGCGGGGCCCCCAG GGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTGAGAACAGGAGAAC ACACAGCGGGGCCCCCAGGGACCCTCCCAACG	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00544.hp2 others(34): Show HG00408.hp2 HG00423.hp1 HG00544.hp2 HG00558.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG01069.hp1 HG01081.hp2 HG01099.hp1 HG01167.hp2 HG01169.hp2 HG01261.hp1 HG01496.hp2 HG01928.hp2 HG02630.hp1 HG02970.hp1 HG03516.hp1 HG03710.hp2 HG03831.hp2 HG04199.hp2 NA18522.hp1 NA18906.hp2 NA18943.hp1 NA18950.hp2 NA18952.hp2 NA18954.hp1 NA18961.hp1 NA18967.hp1 NA18971.hp1 NA18982.hp2 NA18984.hp1 NA19004.hp2 NA19011.hp1 NA19043.hp1 NA19043.hp2 NA19240.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0002c0002 a0003c0004 others(1): Show a0001c0001 a0002c0002 a0003c0004 a0005c0009	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 a0003c0004t0001 a0005c0009t0001	a0001c0001t0001g0020 a0001c0001t0001g0027 a0001c0001t0001g0051 others(33): Show a0001c0001t0001g0020 a0001c0001t0001g0027 a0001c0001t0001g0051 a0001c0001t0001g0073 a0001c0001t0001g0080 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0182 a0001c0001t0001g0194 a0001c0001t0001g0239 a0001c0001t0001g0258 a0001c0001t0001g0271 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0279 a0001c0001t0001g0293 a0001c0001t0002g0101 a0001c0001t0002g0116 a0001c0001t0002g0120 a0001c0001t0002g0158 a0001c0001t0002g0264 a0002c0002t0001g0024 a0002c0002t0001g0033 a0002c0002t0001g0089 a0002c0002t0001g0090 a0002c0002t0001g0131 a0002c0002t0001g0189 a0002c0002t0001g0221 a0002c0002t0001g0237 a0002c0002t0001g0282 a0002c0002t0002g0170 a0002c0002t0002g0174 a0002c0002t0002g0186 a0002c0002t0002g0187 a0003c0004t0001g0035 a0005c0009t0001g0319	37	255	0.1451	-181	c.981 others(17): Show c.981+2172_981+2352del	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
PARVB_chr22_44019302_44177939	44114747	CATTGTTA others(174): Show CATTGTTACTAAGGCCCTGCACCAACACAGATACATTGTTACTAAGTAAG GCCCTGCACCAACACAGATGCATTGTTACTAACTAAGGCCCTGTACCAAC ACAGATACATTGTTACTAGCTAAGGCCCTGCACCAACACAGATACATTGT TACTAAGTAAGGCCCTGTACCAACACAGATAT	C C	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	330	0.0030	-181	c.274 others(17): Show c.274-4279_274-4099del	PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
PCCA_chr13_100084093_100535435	100349039	CTCAAGCA others(174): Show CTCAAGCAGTTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCA TGCACCGCCAGGCCCGGCTAATTTTTGTATTTTTTGTTTGTTTGTTTGTT TTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCGATGGCGCAA TCTCAGCTCACCGCAACCTCCACCTCCCAGGT	C C	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02735.hp1 HG03654.hp2 others(3): Show HG02723.hp2 HG02735.hp1 HG03654.hp2 HG03834.hp1 HG03942.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0119 others(3): Show a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0119 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0005g0034	6	172	0.0349	-181	c.164 others(19): Show c.1643+8829_1643+9009del	PCCA	ENSG00000175198.17	transcript	ENST00000376285.6	protein_coding	18/23		INFO_REALIGN_3_PRIME	chr13	TogoVar
PLEKHN1_chr1_961482_980865	977634	CACCAACC others(174): Show CACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCG CCTCCCGCTCCCCCCGCAACCCCGGGAACCGCCTGCCCCCACCGACCAAC CCCGGGAACCGCCTCCCACCCCCACCAACCCCGGGAACCGCCTCCCAATC CCCCCAACCCCGGGAACTGCCTCCCACCCCCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0020 a0002c0006t0020	a0002c0006t0020g0022 a0002c0006t0020g0022	1	408	0.0025	-181	c.30 others(11): Show c.3060_*3240del	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1770		chr1	TogoVar
RILPL1_chr12_123465054_123538719	123511638	CTGTGTGT others(174): Show CTGTGTGTGTGAGATCTGTATGTGTGAGGTCTGTGTGTGTGGTGTGTGGT GTGTGTGTGTGGTGTGAGATCTGTGTGTGTGTGAGGTTTGTGTGTGTGGT GTGTGTGAGGTCTGTGTGTGGTGTGTGAGGTTTGTGTGTGTGTGGTGTGT GTGAGGTCTGTGTGTGGTGTGTGAGGTCTGTG	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0181 a0002c0003t0004g0181	1	207	0.0048	-181	c.460 others(19): Show c.460+11676_460+11856del	RILPL1	ENSG00000188026.13	transcript	ENST00000376874.9	protein_coding	2/6			chr12	TogoVar
SCNN1D_chr1_1275436_1297025	1289691	CCGTGTCT others(174): Show CCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGC TCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGT GTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCG TCCCGTGTCCGTCCCCCGAGTCTCTGCTCCGT	C C	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02074.hp2 NA19005.hp1 others(1): Show HG00673.hp1 HG02074.hp2 NA19005.hp1 NA19088.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0004 a0002c0002 a0003c0004	a0002c0002t0001 a0003c0004t0003 a0002c0002t0001 a0003c0004t0003	a0002c0002t0001g0057 a0002c0002t0001g0063 a0002c0002t0001g0080 others(1): Show a0002c0002t0001g0057 a0002c0002t0001g0063 a0002c0002t0001g0080 a0003c0004t0003g0136	4	286	0.0140	-181	c.166 others(17): Show c.1663-578_1663-398del	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SGK1_chr6_134164256_134323112	134242929	GTTGTCAA others(174): Show GTTGTCAATACTTTTACCTATTTAGCTTATGCCTTTGGTTATAGAAAATA TAGAATCAATGATAATGAATTAATAAGAAAATAAAAATAGATATTTCAAC TAATGGTTAAAAAACAAACAAAACACCCAAAACACATCTTAGAATGATTC TCATGTCTTCCAAATAAAAATACTTTAAAATT	G G	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02647.hp1 HG02895.hp2 others(4): Show HG02559.hp1 HG02647.hp1 HG02895.hp2 HG02897.hp1 HG03041.hp1 NA18906.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0121 a0001c0001t0001g0122 others(4): Show a0001c0001t0001g0086 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0167 a0001c0001t0001g0233 a0001c0001t0001g0235	7	247	0.0283	-181	c.285 others(19): Show c.285+18823_285+19003del	SGK1	ENSG00000118515.12	transcript	ENST00000367858.10	protein_coding	2/13			chr6	TogoVar
SLC16A9_chr10_59645764_59714850	59681407	ATATGTAT others(174): Show ATATGTATATGTATATGTATATGTATATGATGTATATGTATATGTGTATG TGTATGTGTATGTATATGTATATGTATATGTATATGTATATGTATATGTA TATGATGTATATGTATATGTGTATGTGTATGTGTATGTATATGTATATGT ATATGATGTATATGTATATGTGTATGTGTATG	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0013 a0006c0005t0013	a0006c0005t0013g0185 a0006c0005t0013g0185	1	327	0.0031	-181	c.196 others(17): Show c.196+2508_196+2688del	SLC16A9	ENSG00000165449.12	transcript	ENST00000395348.8	protein_coding	2/5			chr10	TogoVar
SNTG2_chr2_945849_1372613	1056380	GGCGCCCC others(174): Show GGCGCCCCGCTGTGGGGAGGGAGGGAGGGAGAGCGCAGCGCCACGCTGTG CTGTGGGGAGGGAGGGAGAGCGTCGCGCTGTGCTGTGGGGAGGGAGGGAG GGAGAGCGCAGCGCCACGCTGTGGGGAGGGAGGGAGGGAGAGCACGGCGC CCCGCTGTGGGGAGGGAGGGAGGGAGAGCGCA	G G	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0141 a0001c0002t0001g0141	1	187	0.0053	-181	c.73- others(17): Show c.73-27132_73-26952del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
ST3GAL1_chr8_133449848_133576887	133520897	GAGTAGCT others(174): Show GAGTAGCTGGGATTACAGGTGTGCACCACCACACCCAGCTAATTTTTGTT TTTGTGGGTTGTTTTTTTTTTTTTTTGAGACAGTCTTGCTCTGTTGCCCA GGCTAGAGTGCAGTGGTGCAATCTTGGCTCACTGCAACCTCCGCTTCCTG GGTTCAAGCAATTTTCCTGCCTCAGCCTCCCA	G G	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	329	0.0030	-181	c.-42 others(21): Show c.-428-21889_-428-21709del	ST3GAL1	ENSG00000008513.17	transcript	ENST00000522652.6	protein_coding	2/9			chr8	TogoVar
TBC1D3H_chr17_36372531_36393435	36392270	TGTGTGTT others(174): Show TGTGTGTTTGCAGGAATATGCATGTGTATGTGTGTGCATGTGTGTGTGTG CAGGTATATACATGTGAATGTATTTATGTATGTGCATCTGTGTGCATGTG TGTGTGCATGTGTGTGTGCAAGTATATGCATGTGCATGTATGTGCATGTG TGCGTGTGTGTGTGTGCGCCTGTATGTGTGTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0016 a0016	a0016c0033 a0016c0033	a0016c0033t0009 a0016c0033t0009	a0016c0033t0009g0045 a0016c0033t0009g0045	1	156	0.0064	-181	c.-41 others(11): Show c.-4128_-3948del	TBC1D3H	ENSG00000274226.6	transcript	ENST00000610350.4	protein_coding		3836		chr17	TogoVar
THBS3_chr1_155190588_155212897	155191277	GCTTGGGG others(174): Show GCTTGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGT GACACCGTGGGCTGCGGGCGCGGTGGAGCCCGGGTCCGTCCTTCTCTCCG AGGGCCGAGGTGACATCGTAGACTGCGGGCGCGGTGGAGCCCGGGTCCGG CCTGCTCTCCGAGGCCGAGGTGACACCGTAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	263	0.0038	-181	c.43 others(11): Show c.4383_*4563del	THBS3	ENSG00000169231.13	transcript	ENST00000368378.7	protein_coding		4310		chr1	TogoVar
TLR1_chr4_38791255_38809791	38807771	TCCGGGAG others(174): Show TCCGGGAGGGAGGTGGGGGACAGCCCCCGCCAGGCCAGCCACCCCATCCG GGAGGGAGGTGGGGGGGTCAGTCCCCCGCCCGGCCAGCCGCCCCGTCCAG GAGGGAGGTGGGGGAGTCAGCCCCCGACCTGGCCAGCCACCCGGTCCGGG AGGTGAGGGGCGCCTCTGCCCAGCCGCCCCTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00408.hp2 HG00423.hp1 others(119): Show HG00099.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00609.hp2 HG00621.hp2 HG00673.hp2 HG00735.hp1 HG00738.hp2 HG01099.hp2 HG01106.hp2 HG01123.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01192.hp2 HG01346.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01981.hp1 HG01993.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02132.hp2 HG02135.hp1 HG02155.hp2 HG02523.hp2 HG02735.hp2 HG03017.hp1 HG03654.hp2 HG03669.hp2 HG04184.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18939.hp2 NA18940.hp1 NA18941.hp2 NA18943.hp2 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18959.hp2 NA18960.hp1 NA18963.hp1 NA18964.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18970.hp1 NA18973.hp2 NA18977.hp2 NA18978.hp1 NA18979.hp1 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18983.hp2 NA18984.hp1 NA18985.hp1 NA18987.hp1 NA18988.hp1 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19054.hp2 NA19057.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp2 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp2 NA19082.hp2 NA19085.hp2 NA19086.hp2 NA19089.hp1 NA19089.hp2 NA19091.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0016	a0001c0001 a0001c0004 a0002c0002 others(2): Show a0001c0001 a0001c0004 a0002c0002 a0004c0005 a0016c0025	a0001c0001t0002 a0001c0001t0003 a0001c0004t0002 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0004t0002 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0004c0005t0003 a0016c0025t0002	a0001c0001t0002g0002 a0001c0001t0002g0026 a0001c0001t0002g0041 others(13): Show a0001c0001t0002g0002 a0001c0001t0002g0026 a0001c0001t0002g0041 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0048 a0001c0001t0002g0050 a0001c0001t0003g0042 a0001c0001t0003g0049 a0001c0004t0002g0005 a0001c0004t0002g0045 a0002c0002t0001g0001 a0002c0002t0002g0047 a0002c0002t0003g0017 a0004c0005t0003g0006 a0016c0025t0002g0046	122	444	0.2748	-181	c.-34 others(11): Show c.-3435_-3255del	TLR1	ENSG00000174125.8	transcript	ENST00000308979.7	protein_coding		2981		chr4	TogoVar
TUBGCP2_chr10_133273635_133313872	133292024	TCTGTGTC others(174): Show TCTGTGTCCCTCCGTGTCCCTCCGTGTCCCCCATGTCCCTCCGTGTCCCC CGTGTCCCTCCGTGTCCCTCCGTGTCCCTCCGTGTCCCCCATGTCCCCCA TGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCA CACTCCGTGTCCCCCGTGTCCCTCCGTGTCCC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03453.hp1 HG02257.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0011 a0001c0004t0002 a0001c0001t0011 a0001c0004t0002	a0001c0001t0011g0236 a0001c0004t0002g0045 a0001c0001t0011g0236 a0001c0004t0002g0045	2	272	0.0074	-181	c.121 others(17): Show c.1214+294_1214+474del	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
UNC13B_chr9_35157009_35410335	35364132	CGTGGCTT others(174): Show CGTGGCTTCTGAGGAAGGAAATCACTCTGTGCTCAGCCAGCTTAGATAGT CTGTTGGAGTGGTCATTGGTAACAAATCTGGTCTTGCAACCTTGGCAGCC CTGACCCTTGATGCAGGCCACTTTGGAAATGGGAAAAGGATGACTGGAAC CCCTGGGTAGATTTTGTCCCTTGATTTAGTTT	C C	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01175.hp1 HG01891.hp1 others(27): Show HG01074.hp1 HG01175.hp1 HG01891.hp1 HG02055.hp1 HG02257.hp2 HG02451.hp1 HG02486.hp1 HG02572.hp2 HG02615.hp2 HG02630.hp2 HG02717.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp2 HG03098.hp2 HG03139.hp1 HG03225.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03688.hp2 HG03834.hp1 HG06807.hp1 NA18951.hp2 NA18998.hp2 NA19043.hp1 NA20129.hp1 NA20129.hp2	a0005 a0006 a0007 others(3): Show a0005 a0006 a0007 a0012 a0022 a0023	a0005c0006 a0006c0008 a0007c0009 others(4): Show a0005c0006 a0006c0008 a0007c0009 a0007c0025 a0012c0014 a0022c0041 a0023c0026	a0005c0006t0001 a0006c0008t0002 a0007c0009t0001 others(4): Show a0005c0006t0001 a0006c0008t0002 a0007c0009t0001 a0007c0025t0001 a0012c0014t0004 a0022c0041t0001 a0023c0026t0001	a0005c0006t0001g0156 a0005c0006t0001g0158 a0005c0006t0001g0186 others(27): Show a0005c0006t0001g0156 a0005c0006t0001g0158 a0005c0006t0001g0186 a0005c0006t0001g0194 a0005c0006t0001g0196 a0005c0006t0001g0201 a0005c0006t0001g0202 a0005c0006t0001g0203 a0005c0006t0001g0209 a0005c0006t0001g0210 a0005c0006t0001g0211 a0005c0006t0001g0217 a0006c0008t0002g0002 a0006c0008t0002g0003 a0006c0008t0002g0008 a0006c0008t0002g0009 a0006c0008t0002g0010 a0006c0008t0002g0011 a0006c0008t0002g0025 a0006c0008t0002g0057 a0007c0009t0001g0129 a0007c0009t0001g0185 a0007c0009t0001g0188 a0007c0009t0001g0189 a0007c0009t0001g0191 a0007c0025t0001g0190 a0012c0014t0004g0018 a0012c0014t0004g0019 a0022c0041t0001g0200 a0023c0026t0001g0127	30	222	0.1351	-181	c.941 others(19): Show c.9415-2813_9415-2633del	UNC13B	ENSG00000198722.15	transcript	ENST00000635942.2	protein_coding	11/39		INFO_REALIGN_3_PRIME	chr9	TogoVar

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