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
ERICH1_chr8_659200_736224	696702	CCACTCCT others(95): Show CCACTCCTCTCCTTCCTCCCCATCAGCCTGCGCTCGCTCCTCTCACCCTC CACTCCTCTCCTTCCTCCCCATCAGCCTGCGCTCGCTCCTCTCACCCTCC ACT	C C	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02809.hp2 HG03579.hp1 others(1): Show HG02165.hp2 HG02809.hp2 HG03579.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0173 a0001c0001t0001g0186 a0001c0001t0002g0358 others(1): Show a0001c0001t0001g0173 a0001c0001t0001g0186 a0001c0001t0002g0358 a0001c0001t0002g0364	4	376	0.0106	-102	c.170 others(17): Show c.170-4192_170-4091del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
EXOC4_chr7_133248078_134070761	133823824	ACATATAT others(95): Show ACATATATATATATATATATTATATATATATATATATATATATATATATT ATATATATATATATATATATTTTATATATATATATATAAATATATATATA AAT	A A	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0102 a0001c0002t0001g0102	1	100	0.0100	-102	c.173 others(19): Show c.1734+6281_1734+6382del	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	11/17			chr7	TogoVar
EZR_chr6_158760748_158824368	158803534	TATATATA others(95): Show TATATATATATGTATATATATATATATATATATATATATATATATATACA TATATATATATATATATATATACATATATATATATATATATACATATACA TAC	T T	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0188 a0001c0001t0002g0188	1	288	0.0035	-102	c.13- others(17): Show c.13-14265_13-14164del	EZR	ENSG00000092820.19	transcript	ENST00000367075.4	protein_coding	2/13			chr6	TogoVar
F7_chr13_113100791_113125685	113108261	GCGTGGGT others(95): Show GCGTGGGTGTCCCGGGGGTTGTGGGTGTCCCGGGAGTGTGGGTGTTCCGG AGGCGAGGGTGTCCCGGGAGTGTGGGTGTTCCGGAGGCGAGGGTGTCCCG GGA	G G	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	398	0.0025	-102	c.64+ others(15): Show c.64+2357_65-2327del	F7	ENSG00000057593.14	transcript	ENST00000346342.8	protein_coding	1/7			chr13	TogoVar
FAM9B_chrX_9019232_9039127	9022621	TTATATTA others(95): Show TTATATTATGTATAAGATATAATATATATTATATTATGTATAAGATATAA TATATATTATATTATGTATAAGATATAATATATATTATGTATAAGATATA ATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp1 HG03516.hp2 HG03471.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0039 a0001c0001t0001g0003 a0001c0001t0001g0039	2	254	0.0079	-102	c.26 others(11): Show c.2686_*2787del	FAM9B	ENSG00000177138.17	transcript	ENST00000327220.10	protein_coding		1610		chrX	TogoVar
FBXL16_chr16_687500_710801	707559	AAGCGGTG others(95): Show AAGCGGTGACCCACCTGCCCTCCACCTCTGTGACCAGCTGTGACCCACCT ACCCCCCACCTCTGTCACCAGCTGTGACCCACCTACCCTCCACCTCTGTC ACC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG03486.hp1 NA18961.hp1 HG02258.hp2 HG03486.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0009 a0001c0002t0001 a0001c0001t0009 a0001c0002t0001	a0001c0001t0009g0108 a0001c0001t0009g0109 a0001c0002t0001g0001 a0001c0001t0009g0108 a0001c0001t0009g0109 a0001c0002t0001g0001	3	358	0.0084	-102	c.-21 others(11): Show c.-2164_-2063del	FBXL16	ENSG00000127585.13	transcript	ENST00000397621.6	protein_coding		1759		chr16	TogoVar
FBXL16_chr16_687500_710801	707613	CCCACCTC others(95): Show CCCACCTCTGTCACCAGCTGTGACCCACCTACCCTCCACCTCTGTCACCA GCTGTGACCCACCTACCCTCCACCTCTGTCACCAGCTGTGACCCACCTAC CCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	169	0.0059	-102	c.-22 others(11): Show c.-2218_-2117del	FBXL16	ENSG00000127585.13	transcript	ENST00000397621.6	protein_coding		1813		chr16	TogoVar
FGL1_chr8_17859389_17900524	17875481	CTCTTTCT others(95): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02109.hp1 HG02109.hp2 others(10): Show HG01891.hp2 HG02109.hp1 HG02109.hp2 HG02486.hp1 HG02647.hp1 HG02723.hp1 HG02809.hp1 HG02818.hp1 HG02896.hp1 HG02897.hp1 HG03139.hp1 HG03195.hp2 HG03453.hp2	a0004 a0009 a0004 a0009	a0004c0004 a0009c0010 a0004c0004 a0009c0010	a0004c0004t0001 a0009c0010t0001 a0004c0004t0001 a0009c0010t0001	a0004c0004t0001g0007 a0004c0004t0001g0206 a0004c0004t0001g0218 others(6): Show a0004c0004t0001g0007 a0004c0004t0001g0206 a0004c0004t0001g0218 a0004c0004t0001g0219 a0004c0004t0001g0234 a0004c0004t0001g0235 a0004c0004t0001g0236 a0009c0010t0001g0233 a0009c0010t0001g0247	13	190	0.0684	-102	c.245 others(16): Show c.245-1062_245-961del	FGL1	ENSG00000104760.17	transcript	ENST00000427924.5	protein_coding	3/7			chr8	TogoVar
FLT4_chr5_180596506_180654600	180635488	GGTGGGAT others(95): Show GGTGGGATGGAAGTGTGGGTGGATGGGAGGGTGATGGATGGATGGATGGA TGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATG GAT	G G	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0333 a0002c0003t0006g0333	1	350	0.0029	-102	c.59- others(15): Show c.59-3812_59-3711del	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	1/29			chr5	TogoVar
FMN1_chr15_32760544_33199714	32949952	TATATATA others(95): Show TATATATATATATACACACATATATATACACACACATATATATACACATA CACATATATATATACACATATATATATATATACACATATATATATATATA CAC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03041.hp1 HG01884.hp2 HG03041.hp1	a0035 a0046 a0035 a0046	a0035c0035 a0046c0062 a0035c0035 a0046c0062	a0035c0035t0004 a0046c0062t0072 a0035c0035t0004 a0046c0062t0072	a0035c0035t0004g0137 a0046c0062t0072g0148 a0035c0035t0004g0137 a0046c0062t0072g0148	2	186	0.0108	-102	c.313 others(21): Show c.3138+14053_3138+14154del	FMN1	ENSG00000248905.10	transcript	ENST00000616417.5	protein_coding	9/20			chr15	TogoVar
FMO3_chr1_171085905_171122819	171096451	AAATATAT others(95): Show AAATATATATTAAATACATAATATATTTTATATATTAAATACATAATATA CTTTATATATTAAATACATAATATACTTTATATATTAAATACATACTATA CTT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02300.hp2 HG04228.hp2 others(6): Show HG02109.hp1 HG02300.hp2 HG04228.hp2 NA18946.hp2 NA18966.hp2 NA18971.hp2 NA18975.hp1 NA18980.hp2 NA18983.hp2	a0001 a0014 a0001 a0014	a0001c0002 a0001c0011 a0014c0020 a0001c0002 a0001c0011 a0014c0020	a0001c0002t0001 a0001c0011t0001 a0014c0020t0001 a0001c0002t0001 a0001c0011t0001 a0014c0020t0001	a0001c0002t0001g0002 a0001c0002t0001g0024 a0001c0002t0001g0104 others(6): Show a0001c0002t0001g0002 a0001c0002t0001g0024 a0001c0002t0001g0104 a0001c0002t0001g0122 a0001c0002t0001g0125 a0001c0002t0001g0129 a0001c0002t0001g0133 a0001c0011t0001g0037 a0014c0020t0001g0024	9	342	0.0263	-102	c.132 others(17): Show c.132+3662_132+3763del	FMO3	ENSG00000007933.13	transcript	ENST00000367755.9	protein_coding	2/8			chr1	TogoVar
FNIP1_chr5_131636714_131802017	131785011	TATATATG others(95): Show TATATATGATATATATGACATATATATGATATATATGACTATATATATCA TATATATGATATATATGACATATATATATGATATATATGACTATATATAT ATC	T T	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01069.hp2 HG01070.hp1 others(17): Show HG00642.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01243.hp1 HG01433.hp1 HG02258.hp1 HG02622.hp1 HG02647.hp1 HG02723.hp2 HG02886.hp1 HG02897.hp2 HG03098.hp2 HG03139.hp2 HG03209.hp1 HG03471.hp1 HG03471.hp2 HG03540.hp1 NA18906.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0177 a0001c0001t0001g0190 a0001c0001t0001g0193 others(17): Show a0001c0001t0001g0177 a0001c0001t0001g0190 a0001c0001t0001g0193 a0001c0001t0001g0199 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0049	20	168	0.1190	-102	c.92+ others(17): Show c.92+11717_92+11818del	FNIP1	ENSG00000217128.13	transcript	ENST00000510461.6	protein_coding	1/17			chr5	TogoVar
FOXN1_chr17_28501348_28543900	28517550	GCACAGGG others(95): Show GCACAGGGTACACACCTCCACAGGATCCATACCTCCACAGGGTACACACC TCCACAGGATCCATACCTCCACAGGGTACACACCTCCACAGGGTACAGAC CTC	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0010	1	353	0.0028	-102	c.-14 others(17): Show c.-14-6348_-14-6247del	FOXN1	ENSG00000109101.8	transcript	ENST00000579795.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
FOXN3_chr14_89151177_89422233	89361074	TCCACCAC others(95): Show TCCACCACCACCACCTCCAGCACCACCACCACCACCACCTCCACCACTAC CACCTCCAGCACCACCTCCACCACCACCACCTCCAGCACTACCTCCAGCA CCA	T T	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0171 a0001c0001t0002g0171	1	193	0.0052	-102	c.544 others(19): Show c.544-10368_544-10267del	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
FOXN3_chr14_89151177_89422233	89361453	AGCACCAC others(95): Show AGCACCACCTCCACCACCACCACCTCCAGCACCACCTCCACCACCACCTC CACCACTACCACCTCCACCACCACCTCCACCACCACCACCTCCAGCACCA CCT	A A	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0010 a0001c0001t0031g0010	1	226	0.0044	-102	c.544 others(19): Show c.544-10747_544-10646del	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
FOXN3_chr14_89151177_89422233	89361648	ACCACCAC others(95): Show ACCACCACCACCTCCAGCACCACCTCCACCACCACCTCCACCACCACCTC CACCACTACCACCTCCAGCACTACCTCCACCACCACCACCTCCACCACCA CCT	A A	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0029 a0001c0001t0004g0029	1	209	0.0048	-102	c.544 others(19): Show c.544-10942_544-10841del	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
FOXN3_chr14_89151177_89422233	89361829	CCTCCACC others(95): Show CCTCCACCACTACCACCTCCAGCACTACCTCCACCACCACCACCTCCAGC ACCACCTCCACCACCACCTCCACCACTACCACCTCCAGCACCACCACCTC CAG	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0006 a0001c0001t0028g0006	1	225	0.0044	-102	c.544 others(19): Show c.544-11123_544-11022del	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
FOXN3_chr14_89151177_89422233	89361895	CCTCCACC others(95): Show CCTCCACCACTACCACCTCCAGCACCACCACCTCCAGCACCACCTCCACC ACTACCACCTCCAGCACCACCTCCACCACCACCTCCACCACTACCACCTC CAG	C C	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0179 a0001c0001t0003g0179	1	225	0.0044	-102	c.544 others(19): Show c.544-11189_544-11088del	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
FUT9_chr6_96010974_96220612	96132257	CTCAACAT others(95): Show CTCAACATCATTCCAGAAAACTGACCGAAAAACAAAGGTTGAAAGAACAT ATGTGTCTGCTGTTCCATTTCTAAAAGGCTTTATAAGCTGCTCCTGAAAA TGA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp2 HG00438.hp1 others(47): Show HG00140.hp1 HG00423.hp2 HG00438.hp1 HG00597.hp2 HG01069.hp1 HG01123.hp1 HG01358.hp1 HG01891.hp2 HG01928.hp2 HG01981.hp2 HG02015.hp2 HG02027.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp2 HG02083.hp2 HG02109.hp2 HG02155.hp1 HG02451.hp2 HG02486.hp1 HG02572.hp1 HG02602.hp2 HG02615.hp1 HG02647.hp2 HG02723.hp1 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02897.hp1 HG02965.hp2 HG03130.hp1 HG03453.hp2 HG03688.hp2 HG04184.hp2 NA18522.hp2 NA18941.hp1 NA18944.hp2 NA18967.hp2 NA18972.hp1 NA18978.hp1 NA18986.hp1 NA18992.hp1 NA18999.hp2 NA19043.hp1 NA19058.hp2 NA19063.hp1 NA19088.hp2 NA20300.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0003c0004 a0001c0001 a0001c0003 a0003c0004	a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 others(13): Show a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0013 a0001c0001t0019 a0001c0001t0020 a0001c0001t0025 a0001c0001t0026 a0001c0001t0031 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0058 a0001c0001t0066 a0001c0003t0004 a0003c0004t0007	a0001c0001t0004g0032 a0001c0001t0004g0036 a0001c0001t0004g0046 others(47): Show a0001c0001t0004g0032 a0001c0001t0004g0036 a0001c0001t0004g0046 a0001c0001t0004g0057 a0001c0001t0004g0064 a0001c0001t0004g0068 a0001c0001t0004g0094 a0001c0001t0004g0129 a0001c0001t0004g0150 a0001c0001t0004g0176 a0001c0001t0004g0197 a0001c0001t0004g0207 a0001c0001t0004g0231 a0001c0001t0004g0254 a0001c0001t0004g0255 a0001c0001t0004g0259 a0001c0001t0004g0293 a0001c0001t0007g0016 a0001c0001t0007g0019 a0001c0001t0007g0020 a0001c0001t0007g0049 a0001c0001t0007g0110 a0001c0001t0007g0185 a0001c0001t0008g0010 a0001c0001t0008g0012 a0001c0001t0008g0108 a0001c0001t0008g0143 a0001c0001t0008g0157 a0001c0001t0008g0202 a0001c0001t0008g0239 a0001c0001t0008g0311 a0001c0001t0013g0141 a0001c0001t0013g0261 a0001c0001t0013g0262 a0001c0001t0019g0041 a0001c0001t0019g0228 a0001c0001t0020g0236 a0001c0001t0020g0309 a0001c0001t0025g0149 a0001c0001t0026g0051 a0001c0001t0026g0052 a0001c0001t0031g0268 a0001c0001t0031g0269 a0001c0001t0040g0238 a0001c0001t0041g0277 a0001c0001t0042g0126 a0001c0001t0058g0282 a0001c0001t0066g0266 a0001c0003t0004g0031 a0003c0004t0007g0018	50	318	0.1572	-102	c.-9+ others(17): Show c.-9+18135_-9+18236del	FUT9	ENSG00000172461.11	transcript	ENST00000302103.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
GAL3ST2_chr2_241771822_241809287	241805942	TCCCCCCT others(95): Show TCCCCCCTCAGCCCAGGGACCTCCTCCCTCCCCCCTCAGCCCAAGGGACC TAGGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTT CCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0009 a0002c0002t0001g0009	1	291	0.0034	-102	c.17 others(11): Show c.1777_*1878del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1656		chr2	TogoVar
GFPT2_chr5_180295698_180358336	180296820	TTACCCCC others(95): Show TTACCCCCCCCCCCACACACACACGGAAGTACTTACCACACACACACACA CACACACACACAAGGAAGTACAACACACACGTAAGGAAGTACACACACGG AAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00323.hp1 others(62): Show HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00558.hp2 HG00597.hp2 HG00621.hp2 HG00673.hp2 HG00735.hp2 HG01070.hp2 HG01123.hp1 HG01175.hp1 HG01192.hp2 HG01361.hp1 HG01433.hp1 HG01943.hp2 HG01981.hp2 HG01993.hp1 HG02056.hp1 HG02074.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02148.hp1 HG02280.hp2 HG02293.hp1 HG02572.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02809.hp1 HG02886.hp1 HG02970.hp2 HG03017.hp1 HG03710.hp1 HG04184.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 NA18612.hp2 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp2 NA18946.hp2 NA18947.hp2 NA18952.hp1 NA18959.hp2 NA18968.hp1 NA18979.hp1 NA18980.hp2 NA18999.hp2 NA19005.hp1 NA19007.hp2 NA19011.hp1 NA19012.hp2 NA19056.hp2 NA19064.hp2 NA19070.hp2 NA19080.hp1 NA19081.hp1 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19090.hp2 NA19091.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0003 a0002c0002 a0002c0020 others(1): Show a0001c0003 a0002c0002 a0002c0020 a0003c0014	a0001c0003t0001 a0001c0003t0005 a0001c0003t0014 others(3): Show a0001c0003t0001 a0001c0003t0005 a0001c0003t0014 a0002c0002t0001 a0002c0020t0001 a0003c0014t0001	a0001c0003t0001g0002 a0001c0003t0001g0030 a0001c0003t0001g0031 others(59): Show a0001c0003t0001g0002 a0001c0003t0001g0030 a0001c0003t0001g0031 a0001c0003t0001g0046 a0001c0003t0001g0057 a0001c0003t0001g0064 a0001c0003t0001g0065 a0001c0003t0001g0077 a0001c0003t0001g0092 a0001c0003t0001g0093 a0001c0003t0001g0094 a0001c0003t0001g0105 a0001c0003t0001g0120 a0001c0003t0001g0175 a0001c0003t0001g0178 a0001c0003t0001g0198 a0001c0003t0001g0200 a0001c0003t0001g0203 a0001c0003t0001g0221 a0001c0003t0001g0230 a0001c0003t0001g0243 a0001c0003t0001g0247 a0001c0003t0001g0252 a0001c0003t0001g0253 a0001c0003t0001g0254 a0001c0003t0001g0269 a0001c0003t0001g0271 a0001c0003t0001g0274 a0001c0003t0001g0275 a0001c0003t0001g0276 a0001c0003t0001g0278 a0001c0003t0001g0279 a0001c0003t0001g0285 a0001c0003t0001g0287 a0001c0003t0001g0288 a0001c0003t0001g0293 a0001c0003t0001g0294 a0001c0003t0001g0296 a0001c0003t0001g0297 a0001c0003t0001g0299 a0001c0003t0001g0301 a0001c0003t0001g0303 a0001c0003t0001g0305 a0001c0003t0001g0310 a0001c0003t0001g0311 a0001c0003t0001g0313 a0001c0003t0001g0314 a0001c0003t0001g0315 a0001c0003t0001g0319 a0001c0003t0001g0327 a0001c0003t0001g0335 a0001c0003t0001g0340 a0001c0003t0001g0346 a0001c0003t0001g0347 a0001c0003t0001g0350 a0001c0003t0001g0355 a0001c0003t0005g0378 a0001c0003t0014g0336 a0002c0002t0001g0097 a0002c0020t0001g0298 a0003c0014t0001g0292 a0003c0014t0001g0302	65	410	0.1585	-102	c.46 others(11): Show c.4642_*4743del	GFPT2	ENSG00000131459.13	transcript	ENST00000253778.13	protein_coding		3877		chr5	TogoVar
GFPT2_chr5_180295698_180358336	180296830	CCCCACAC others(95): Show CCCCACACACACACGGAAGTACTTACCACACACACACACACACACACACA CAAGGAAGTACAACACACACGTAAGGAAGTACACACACGGAAGTACCCCC CCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 NA18940.hp1 NA18966.hp1 others(6): Show HG02622.hp1 NA18940.hp1 NA18966.hp1 NA18985.hp1 NA18993.hp1 NA19000.hp2 NA19002.hp1 NA19030.hp2 NA19074.hp1	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0001 a0001c0005t0005 a0001c0003t0001 a0001c0005t0005	a0001c0003t0001g0018 a0001c0003t0001g0020 a0001c0003t0001g0148 others(5): Show a0001c0003t0001g0018 a0001c0003t0001g0020 a0001c0003t0001g0148 a0001c0003t0001g0201 a0001c0003t0001g0300 a0001c0003t0001g0306 a0001c0003t0001g0312 a0001c0005t0005g0371	9	406	0.0222	-102	c.46 others(11): Show c.4632_*4733del	GFPT2	ENSG00000131459.13	transcript	ENST00000253778.13	protein_coding		3867		chr5	TogoVar
GGACT_chr13_100525180_100593789	100550315	CACACACA others(95): Show CACACACACACACACACACACACACACACACACACACACACCACTGGCCC TTCTAAGGAAACTGGATGCGCTGAATGAATTAAATCCGAGCCGATTATAC TCT	C C	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03579.hp1 HG02965.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0042 a0001c0001t0004g0049 a0001c0001t0004g0042 a0001c0001t0004g0049	2	374	0.0053	-102	c.-10 others(19): Show c.-10-17816_-10-17715del	GGACT	ENSG00000134864.11	transcript	ENST00000683975.1	protein_coding	2/2			chr13	TogoVar
GMEB2_chr20_63582605_63632101	63608527	CCACATCC others(95): Show CCACATCCATTTCTAGAAACATGCCCCTCTGACCCCACCTCCATTTCTAG AAACATGTCCCTCTGACCCCACATCCATTTCTAGAAACATGCCCCTCTGA CCT	C C	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03209.hp2 HG02965.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0115 a0001c0001t0011g0261 a0001c0001t0011g0115 a0001c0001t0011g0261	2	315	0.0063	-102	c.132 others(17): Show c.132-3789_132-3688del	GMEB2	ENSG00000101216.11	transcript	ENST00000370077.2	protein_coding	2/9			chr20	TogoVar
GNG12_chr1_67696475_67838467	67709924	TTATATAT others(95): Show TTATATATATAGTTATATATATATAGTTATATATATAGTTATATATATAG TTATATATATATAGTTATATATATAGTTATATATATAGTTATATATATAG TTA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02129.hp2 NA18948.hp2 others(4): Show HG00140.hp2 HG02129.hp2 NA18948.hp2 NA18973.hp2 NA18989.hp2 NA19004.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0037 a0001c0001t0002g0099 others(2): Show a0001c0001t0002g0001 a0001c0001t0002g0037 a0001c0001t0002g0099 a0001c0001t0002g0113 a0001c0001t0002g0120	7	264	0.0265	-102	c.-26 others(17): Show c.-26-2314_-26-2213del	GNG12	ENSG00000172380.6	transcript	ENST00000370982.4	protein_coding	2/3			chr1	TogoVar
GNG12_chr1_67696475_67838467	67710104	ATATATAT others(95): Show ATATATATAGTTATATATATAGTTATATATATAGTTATATATATATAGTT ATATATATATAGTTATATATATATAGTTATATATATAGTTATATATATAT AGT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00323.hp2 others(39): Show HG00099.hp2 HG00140.hp1 HG00323.hp2 HG00544.hp1 HG00621.hp2 HG00738.hp1 HG01109.hp1 HG01167.hp2 HG01175.hp2 HG01256.hp2 HG01258.hp2 HG01433.hp2 HG01928.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01981.hp1 HG02056.hp2 HG02109.hp2 HG02165.hp2 HG02258.hp1 HG02273.hp1 HG03239.hp2 HG03688.hp1 HG03688.hp2 HG04184.hp1 NA18612.hp1 NA18939.hp1 NA18941.hp1 NA18948.hp1 NA18949.hp1 NA18950.hp2 NA18955.hp2 NA18960.hp2 NA18964.hp2 NA18974.hp2 NA18979.hp1 NA19010.hp2 NA19054.hp1 NA19081.hp2 NA19082.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0028 a0001c0001t0029 others(1): Show a0001c0001t0002 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030	a0001c0001t0002g0003 a0001c0001t0002g0026 a0001c0001t0002g0027 others(38): Show a0001c0001t0002g0003 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0041 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0053 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0068 a0001c0001t0002g0070 a0001c0001t0002g0073 a0001c0001t0002g0076 a0001c0001t0002g0087 a0001c0001t0002g0089 a0001c0001t0002g0093 a0001c0001t0002g0098 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0114 a0001c0001t0002g0132 a0001c0001t0002g0138 a0001c0001t0002g0140 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0160 a0001c0001t0002g0164 a0001c0001t0002g0220 a0001c0001t0028g0063 a0001c0001t0029g0196 a0001c0001t0030g0137	42	221	0.1900	-102	c.-26 others(17): Show c.-26-2494_-26-2393del	GNG12	ENSG00000172380.6	transcript	ENST00000370982.4	protein_coding	2/3			chr1	TogoVar
GPC6_chr13_93221807_94413020	93231323	ATATATAC others(95): Show ATATATACGTATATATATATATACATATATATATATACGTATATATATAT ATATATACATATATATATATATATGTATATATATATATATATATATATAT ACG	A A	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01167.hp1 HG01975.hp1 others(4): Show HG01074.hp2 HG01167.hp1 HG01975.hp1 HG01981.hp2 HG02895.hp1 HG03225.hp1 NA19012.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0006 a0001c0001t0025 others(4): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0025 a0001c0001t0032 a0001c0003t0030 a0002c0002t0008 a0002c0002t0014	a0001c0001t0001g0028 a0001c0001t0006g0026 a0001c0001t0025g0066 others(4): Show a0001c0001t0001g0028 a0001c0001t0006g0026 a0001c0001t0025g0066 a0001c0001t0032g0029 a0001c0003t0030g0025 a0002c0002t0008g0024 a0002c0002t0014g0023	7	76	0.0921	-102	c.160 others(17): Show c.160+3714_160+3815del	GPC6	ENSG00000183098.12	transcript	ENST00000377047.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
GRAMD4_chr22_46615386_46684785	46628475	GGGTGGAC others(95): Show GGGTGGACTGAGTGCGTTGGTGTCTGAGGGGCGGGTGGACTGAGTGTGTG CGTGGTGTCTGAGGGGCAGGTGGACTGAGTGTGTGCGTGGTGTCTGAGGG GCA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00642.hp2 HG01070.hp2 others(10): Show HG00140.hp1 HG00642.hp2 HG01070.hp2 HG01243.hp1 HG02451.hp2 HG02559.hp1 HG02615.hp1 HG02630.hp1 HG02965.hp1 HG03225.hp1 HG03239.hp2 HG03471.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 others(2): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0013 a0001c0002t0004	a0001c0001t0003g0235 a0001c0001t0005g0047 a0001c0001t0007g0022 others(10): Show a0001c0001t0003g0235 a0001c0001t0005g0047 a0001c0001t0007g0022 a0001c0001t0007g0023 a0001c0001t0007g0024 a0001c0001t0007g0025 a0001c0001t0007g0026 a0001c0001t0007g0027 a0001c0001t0007g0028 a0001c0001t0007g0029 a0001c0001t0007g0046 a0001c0001t0013g0019 a0001c0002t0004g0045	13	326	0.0399	-102	c.162 others(17): Show c.162+1528_162+1629del	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GREM2_chr1_240484573_240617155	240536567	GGAGTTTA others(95): Show GGAGTTTAAGACAAAATGGCAGCGGGGGCTGTAGATCTGGAAGCCATCTG TAGAGTTTAAGACAAAATGGCAGCGGGGGCTGTAGATCTGGAAGCCATCT GTA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02976.hp1 HG03486.hp2 others(1): Show HG01109.hp2 HG02976.hp1 HG03486.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0009 a0001c0001t0003 a0001c0001t0009	a0001c0001t0003g0025 a0001c0001t0003g0078 a0001c0001t0003g0249 others(1): Show a0001c0001t0003g0025 a0001c0001t0003g0078 a0001c0001t0003g0249 a0001c0001t0009g0117	4	110	0.0364	-102	c.-1- others(17): Show c.-1-43193_-1-43092del	GREM2	ENSG00000180875.5	transcript	ENST00000318160.5	protein_coding	1/1			chr1	TogoVar
GREM2_chr1_240484573_240617155	240536640	CGGGGGCT others(95): Show CGGGGGCTGTAGATCTGGAAGCCATCTGTAGAGTTTAAGACAAAATGGCA GCGGGGGCTGTAGATCTGGAAGCCATCTGTAGAGTTTAAGACAAAATGGC AGT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00735.hp1 others(36): Show HG00099.hp2 HG00323.hp1 HG00735.hp1 HG01099.hp2 HG01106.hp1 HG01168.hp1 HG01168.hp2 HG01243.hp1 HG01243.hp2 HG01258.hp2 HG01346.hp1 HG01361.hp2 HG01433.hp2 HG01928.hp2 HG01981.hp2 HG02135.hp1 HG02280.hp2 HG02572.hp1 HG02572.hp2 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02886.hp2 HG02965.hp2 HG03017.hp1 HG03209.hp1 HG03471.hp1 HG03491.hp2 HG03540.hp2 HG03654.hp1 NA18952.hp2 NA18979.hp1 NA19030.hp1 NA19043.hp2 NA19084.hp1 NA19240.hp1 NA19240.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0023 a0001c0001t0028 a0001c0001t0034 a0001c0001t0042 a0001c0001t0050 a0001c0001t0053	a0001c0001t0001g0073 a0001c0001t0001g0199 a0001c0001t0001g0282 others(36): Show a0001c0001t0001g0073 a0001c0001t0001g0199 a0001c0001t0001g0282 a0001c0001t0002g0021 a0001c0001t0002g0077 a0001c0001t0002g0119 a0001c0001t0002g0189 a0001c0001t0002g0210 a0001c0001t0002g0246 a0001c0001t0002g0265 a0001c0001t0002g0341 a0001c0001t0003g0012 a0001c0001t0003g0149 a0001c0001t0003g0167 a0001c0001t0003g0208 a0001c0001t0003g0255 a0001c0001t0003g0272 a0001c0001t0004g0024 a0001c0001t0004g0063 a0001c0001t0004g0280 a0001c0001t0005g0041 a0001c0001t0005g0044 a0001c0001t0005g0121 a0001c0001t0006g0093 a0001c0001t0006g0097 a0001c0001t0006g0198 a0001c0001t0006g0370 a0001c0001t0008g0026 a0001c0001t0008g0040 a0001c0001t0009g0027 a0001c0001t0010g0104 a0001c0001t0010g0108 a0001c0001t0011g0008 a0001c0001t0023g0070 a0001c0001t0028g0138 a0001c0001t0034g0247 a0001c0001t0042g0375 a0001c0001t0050g0111 a0001c0001t0053g0092	39	375	0.1040	-102	c.-1- others(17): Show c.-1-43266_-1-43165del	GREM2	ENSG00000180875.5	transcript	ENST00000318160.5	protein_coding	1/1			chr1	TogoVar
HACL1_chr3_15555699_15606569	15592568	ATGTACGC others(95): Show ATGTACGCACATGTGTGCGTGTATACACATGTACGCACATGTGTGCGTGT ATACACATGTACGCACATGTGTGCGTGTATACACATGTACGCACATGTGT GCG	A A	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0289 a0001c0001t0001g0289	1	424	0.0024	-102	c.228 others(15): Show c.228-990_228-889del	HACL1	ENSG00000131373.15	transcript	ENST00000321169.10	protein_coding	3/16			chr3	TogoVar
HBQ1_chr16_175459_186179	186077	GACACGGG others(95): Show GACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAG CGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACA GCG	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02809.hp1 HG02818.hp1 others(3): Show HG02559.hp1 HG02809.hp1 HG02818.hp1 HG03130.hp2 HG03209.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	6	382	0.0157	-102	c.49 others(11): Show c.4970_*5071del	HBQ1	ENSG00000086506.3	transcript	ENST00000199708.3	protein_coding		4899		chr16	TogoVar
HGS_chr17_81679011_81707121	81686734	CCTGACGG others(95): Show CCTGACGGGCCTGTTGAAGGGCTGCTGTCCCACCGGGTTCCCCACCGGCC ACTGACGGGCCTGTCGAAGGGCTCTGCTGTCCCACCGGGTTCCCCTCCGG CCA	C C	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	412	0.0024	-102	c.199 others(15): Show c.199-255_199-154del	HGS	ENSG00000185359.14	transcript	ENST00000329138.9	protein_coding	3/21		INFO_REALIGN_3_PRIME	chr17	TogoVar
HMGCLL1_chr6_55429373_55584192	55477322	TTATATTA others(95): Show TTATATTATATAATATATATTATATTTAGATAATATATATTATATTAATA TAATATATATTATCTAAATATAATATATATTATCTAAATATATATTATCT TAA	T T	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0008 a0001c0001t0004g0008	1	330	0.0030	-102	c.795 others(19): Show c.795+17995_795+18096del	HMGCLL1	ENSG00000146151.14	transcript	ENST00000274901.9	protein_coding	7/8			chr6	TogoVar
HRH1_chr3_11149493_11268557	11166706	ATTCTCCA others(95): Show ATTCTCCAGGCCCGTGACATCTGCTGTCCCCTGGCTTCTCCAGGCCCATG ACATCTGCTGTCCCCTGGCTTCTCCAGGCCCATGACATCTCCTGTCCCCT GGC	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01169.hp2 HG01361.hp1 others(3): Show HG00735.hp1 HG01169.hp2 HG01361.hp1 HG01993.hp2 HG02451.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0002t0007	a0001c0001t0001g0062 a0001c0001t0004g0061 a0001c0001t0006g0060 others(3): Show a0001c0001t0001g0062 a0001c0001t0004g0061 a0001c0001t0006g0060 a0001c0002t0007g0058 a0001c0002t0007g0059 a0001c0002t0007g0063	6	350	0.0171	-102	c.-36 others(19): Show c.-36+12165_-36+12266del	HRH1	ENSG00000196639.7	transcript	ENST00000431010.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar
HRH1_chr3_11149493_11268557	11167284	TTCTCCAG others(95): Show TTCTCCAGGCCCGTGACATCTGCTGTCCCCTGGCCTCTCCAGGCCCGTGA CATCTGCTGTCCCCTGGCCTCTCCAGGCCCGTGACATCTGCTGTCCCCTG GCC	T T	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03209.hp2 HG03471.hp1 HG02976.hp2 HG03209.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0005 a0001c0001t0006 a0001c0004t0009 a0001c0001t0005 a0001c0001t0006 a0001c0004t0009	a0001c0001t0005g0109 a0001c0001t0006g0125 a0001c0004t0009g0105 a0001c0001t0005g0109 a0001c0001t0006g0125 a0001c0004t0009g0105	3	202	0.0149	-102	c.-36 others(19): Show c.-36+12864_-36+12965del	HRH1	ENSG00000196639.7	transcript	ENST00000431010.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar
HSD17B11_chr4_87331515_87396188	87378827	TATAAATA others(95): Show TATAAATATATATATATAAATATATATATAAATATATATAAATATATATA TATAAATATATATATATAAATATATATAAATATATATATATAAATATATA TAA	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00741.hp2 HG01081.hp1 others(7): Show HG00323.hp2 HG00741.hp2 HG01081.hp1 HG01099.hp2 HG02109.hp2 HG03041.hp1 HG03195.hp2 HG03471.hp2 NA20129.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0008 a0001c0002 a0001c0008	a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 others(4): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0008 a0001c0002t0012 a0001c0002t0014 a0001c0008t0009	a0001c0002t0001g0248 a0001c0002t0001g0249 a0001c0002t0001g0278 others(7): Show a0001c0002t0001g0248 a0001c0002t0001g0249 a0001c0002t0001g0278 a0001c0002t0003g0087 a0001c0002t0004g0361 a0001c0002t0008g0276 a0001c0002t0012g0247 a0001c0002t0012g0251 a0001c0002t0014g0026 a0001c0008t0009g0339	10	384	0.0260	-102	c.318 others(17): Show c.318+3326_318+3427del	HSD17B11	ENSG00000198189.11	transcript	ENST00000358290.9	protein_coding	2/6			chr4	TogoVar
HTT_chr4_3069681_3248957	3227254	GCCCTGTC others(95): Show GCCCTGTCTGGGGCTGAAGGACAGTGCCACCCCTGCCCTGTCTGGGGCTG AAGTACAGTGCCACCCCTGCCCTGTCTGGGGCTGAAGGACAGTGCCACCC CTT	G G	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0081 a0001c0003t0001g0081	1	292	0.0034	-102	c.784 others(19): Show c.7849-1308_7849-1207del	HTT	ENSG00000197386.14	transcript	ENST00000355072.11	protein_coding	57/66		INFO_REALIGN_3_PRIME	chr4	TogoVar
HTT_chr4_3069681_3248957	3227356	TCCCTGTC others(95): Show TCCCTGTCTGGGGCTGAAGGACAGTGCCACCCCTGCCCTGTCTGGGGCTG AAGGACAGTGCCACCCCTGCCCTGTCTGGGGCTGAAGGACAGTGCCACCC CTG	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03195.hp1 NA18989.hp1 others(1): Show HG02258.hp1 HG03195.hp1 NA18989.hp1 NA19088.hp1	a0001 a0004 a0010 a0001 a0004 a0010	a0001c0058 a0001c0062 a0004c0069 others(1): Show a0001c0058 a0001c0062 a0004c0069 a0010c0103	a0001c0058t0001 a0001c0062t0001 a0004c0069t0001 others(1): Show a0001c0058t0001 a0001c0062t0001 a0004c0069t0001 a0010c0103t0032	a0001c0058t0001g0219 a0001c0062t0001g0249 a0004c0069t0001g0059 others(1): Show a0001c0058t0001g0219 a0001c0062t0001g0249 a0004c0069t0001g0059 a0010c0103t0032g0031	4	51	0.0784	-102	c.784 others(17): Show c.7849-873_7849-772del	HTT	ENSG00000197386.14	transcript	ENST00000355072.11	protein_coding	57/66		INFO_REALIGN_3_PRIME	chr4	TogoVar
IKZF5_chr10_122985807_123013795	123012599	CTCAGGAG others(95): Show CTCAGGAGTGAAGCTGCAGACCTTCACGGTGAGTGTTACAGCTCTTAAGG CGGCACATCTGGAGTTGTTCGCTCCTCCCGGTGGGCTTGTGGCCTCGCTG GCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0004 a0001c0001t0004g0004	1	402	0.0025	-102	c.-42 others(11): Show c.-4205_-4104del	IKZF5	ENSG00000095574.12	transcript	ENST00000368886.10	protein_coding		3805		chr10	TogoVar
IL19_chr1_206765773_206847981	206781893	AGTTATAT others(95): Show AGTTATATATACATATATATGTATATAGTTATATATACATATATATGTAT ATAGTTATATATACATATATATGTATATGTTATATATACATATATATGTA TAT	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02630.hp1 HG02615.hp2 HG02630.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0015 a0002c0002t0008 a0001c0001t0015 a0002c0002t0008	a0001c0001t0015g0122 a0002c0002t0008g0121 a0001c0001t0015g0122 a0002c0002t0008g0121	2	362	0.0055	-102	c.-14 others(21): Show c.-149+10885_-149+10986del	IL19	ENSG00000142224.18	transcript	ENST00000659997.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
IL19_chr1_206765773_206847981	206781963	ATGTATAT others(95): Show ATGTATATGTTATATATACATATATATGTATATGTTATATATACATATAT ATGTATATAGTTATATATACATATATATGTATATAGTTATATATACATAT ATG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00438.hp1 others(68): Show HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00673.hp2 HG01243.hp2 HG01261.hp1 HG01433.hp1 HG01515.hp1 HG01517.hp1 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01975.hp2 HG02004.hp1 HG02015.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02132.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02451.hp1 HG02698.hp1 HG02970.hp2 HG03139.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG03710.hp1 HG04204.hp2 HG04228.hp2 NA18612.hp1 NA18747.hp2 NA18941.hp1 NA18947.hp1 NA18952.hp2 NA18959.hp1 NA18959.hp2 NA18964.hp1 NA18967.hp1 NA18971.hp2 NA18981.hp2 NA18989.hp1 NA18991.hp2 NA18992.hp1 NA18993.hp2 NA18998.hp1 NA19002.hp2 NA19004.hp2 NA19006.hp1 NA19009.hp2 NA19012.hp2 NA19054.hp2 NA19058.hp2 NA19062.hp1 NA19062.hp2 NA19066.hp2 NA19070.hp1 NA19077.hp2 NA19079.hp2 NA19081.hp2 NA19086.hp2 NA19088.hp1 NA19240.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 a0002c0002t0006	a0001c0001t0001g0090 a0001c0001t0001g0145 a0001c0001t0003g0006 others(64): Show a0001c0001t0001g0090 a0001c0001t0001g0145 a0001c0001t0003g0006 a0001c0001t0003g0007 a0001c0001t0003g0184 a0001c0001t0003g0196 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0214 a0001c0001t0003g0215 a0001c0001t0003g0230 a0001c0001t0003g0234 a0001c0001t0003g0297 a0001c0001t0003g0298 a0001c0001t0003g0323 a0001c0001t0003g0325 a0001c0001t0010g0175 a0002c0002t0002g0008 a0002c0002t0002g0011 a0002c0002t0002g0013 a0002c0002t0002g0179 a0002c0002t0002g0182 a0002c0002t0002g0187 a0002c0002t0002g0190 a0002c0002t0002g0191 a0002c0002t0002g0193 a0002c0002t0002g0194 a0002c0002t0002g0195 a0002c0002t0002g0197 a0002c0002t0002g0198 a0002c0002t0002g0203 a0002c0002t0002g0209 a0002c0002t0002g0210 a0002c0002t0002g0218 a0002c0002t0002g0222 a0002c0002t0002g0227 a0002c0002t0002g0258 a0002c0002t0002g0264 a0002c0002t0002g0276 a0002c0002t0002g0277 a0002c0002t0002g0278 a0002c0002t0002g0286 a0002c0002t0004g0022 a0002c0002t0004g0023 a0002c0002t0004g0111 a0002c0002t0004g0115 a0002c0002t0004g0118 a0002c0002t0004g0149 a0002c0002t0004g0160 a0002c0002t0004g0166 a0002c0002t0004g0279 a0002c0002t0005g0014 a0002c0002t0005g0176 a0002c0002t0005g0177 a0002c0002t0005g0178 a0002c0002t0005g0183 a0002c0002t0005g0189 a0002c0002t0005g0199 a0002c0002t0005g0202 a0002c0002t0005g0216 a0002c0002t0005g0225 a0002c0002t0005g0228 a0002c0002t0005g0229 a0002c0002t0005g0254 a0002c0002t0005g0271 a0002c0002t0005g0275 a0002c0002t0006g0142	71	364	0.1951	-102	c.-14 others(21): Show c.-149+10890_-149+10991del	IL19	ENSG00000142224.18	transcript	ENST00000659997.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
IL1RAPL1_chrX_28582446_29961718	29803198	TATACACA others(95): Show TATACACACATGTATATATGTATACATATACACACATGTATATATGTATA CATATACACACATGTATATATGTATACATATACACACATGTATATATGTA TAC	T T	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02132.hp1 HG02886.hp1 others(2): Show HG01106.hp1 HG02132.hp1 HG02886.hp1 NA19070.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0001 a0001c0001t0002 a0001c0001t0006	a0001c0001t0001g0093 a0001c0001t0001g0105 a0001c0001t0001g0109 others(2): Show a0001c0001t0001g0093 a0001c0001t0001g0105 a0001c0001t0001g0109 a0001c0001t0002g0043 a0001c0001t0006g0008	5	134	0.0373	-102	c.779 others(21): Show c.779-114262_779-114161del	IL1RAPL1	ENSG00000169306.11	transcript	ENST00000378993.6	protein_coding	6/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL3RA_chrX_1331785_1387689	1352880	AATCCCCC others(95): Show AATCCCCCATGATGGGTTTCATCATGAGTCATAGAACCCCCTATCATGGA TTCCATCATGGGTCATGGGAACCCCCATCATGGGTCCCATCATGGTTCAT AGG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(48): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00558.hp1 HG00673.hp1 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01123.hp2 HG01192.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01433.hp2 HG01975.hp1 HG01975.hp2 HG02004.hp1 HG02040.hp2 HG02080.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02280.hp2 HG02300.hp2 HG02451.hp2 HG02602.hp2 HG02622.hp2 HG02738.hp2 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG03017.hp1 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03453.hp2 HG03688.hp2 HG03927.hp2 HG03942.hp1 NA18906.hp1 NA18906.hp2 NA18948.hp1 NA18966.hp1 NA19056.hp2 NA19063.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0003 a0001c0009 others(5): Show a0001c0001 a0001c0003 a0001c0009 a0002c0002 a0002c0007 a0002c0008 a0003c0004 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0003t0001 a0001c0003t0004 a0001c0009t0009 a0002c0002t0005 a0002c0007t0005 a0002c0008t0005 a0003c0004t0007 a0004c0005t0003	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0017 others(48): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0017 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0081 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0105 a0001c0001t0002g0038 a0001c0001t0002g0041 a0001c0001t0002g0056 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0003g0015 a0001c0001t0003g0026 a0001c0001t0003g0082 a0001c0001t0003g0084 a0001c0001t0003g0106 a0001c0001t0003g0107 a0001c0001t0003g0108 a0001c0001t0003g0113 a0001c0001t0003g0114 a0001c0001t0004g0052 a0001c0001t0004g0054 a0001c0001t0004g0063 a0001c0001t0004g0071 a0001c0001t0006g0080 a0001c0001t0006g0087 a0001c0001t0006g0088 a0001c0001t0008g0095 a0001c0001t0010g0090 a0001c0003t0001g0103 a0001c0003t0004g0070 a0001c0009t0009g0112 a0002c0002t0005g0006 a0002c0002t0005g0007 a0002c0002t0005g0009 a0002c0002t0005g0028 a0002c0002t0005g0098 a0002c0002t0005g0115 a0002c0007t0005g0021 a0002c0008t0005g0024 a0003c0004t0007g0093 a0004c0005t0003g0022	51	113	0.4513	-102	c.616 others(15): Show c.616+384_616+485del	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	6/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL3RA_chrX_1331785_1387689	1352890	GATGGGTT others(95): Show GATGGGTTTCATCATGAGTCATAGAACCCCCTATCATGGATTCCATCATG GGTCATGGGAACCCCCATCATGGGTCCCATCATGGTTCATAGGATCCCCC ATC	G G	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0072 a0001c0001t0004g0072	1	99	0.0101	-102	c.616 others(15): Show c.616+467_616+568del	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	6/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
INF2_chr14_104684618_104727535	104720499	GACATCTG others(95): Show GACATCTGCGTAGTCTCGTGTGGATGCTGCTGTGAACGTCTGCGTAGTCT CGTGTGGATGCTGCTGTGGACGTCTGCGTAGTCTCGTGTGGATGCTGCTG TGC	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00597.hp1 HG00741.hp2 HG02071.hp1 others(8): Show HG00597.hp1 HG00741.hp2 HG02071.hp1 HG02109.hp1 HG02523.hp2 HG03139.hp2 HG03710.hp1 NA18906.hp1 NA18971.hp2 NA18984.hp2 NA19056.hp1	a0001 a0009 a0010 a0001 a0009 a0010	a0001c0001 a0001c0004 a0009c0012 others(1): Show a0001c0001 a0001c0004 a0009c0012 a0010c0011	a0001c0001t0021 a0001c0001t0050 a0001c0001t0058 others(4): Show a0001c0001t0021 a0001c0001t0050 a0001c0001t0058 a0001c0001t0067 a0001c0004t0021 a0009c0012t0022 a0010c0011t0040	a0001c0001t0021g0002 a0001c0001t0021g0150 a0001c0001t0050g0145 others(7): Show a0001c0001t0021g0002 a0001c0001t0021g0150 a0001c0001t0050g0145 a0001c0001t0058g0033 a0001c0001t0067g0020 a0001c0004t0021g0185 a0009c0012t0022g0035 a0009c0012t0022g0123 a0010c0011t0040g0002 a0010c0011t0040g0115	11	376	0.0293	-102	c.17 others(11): Show c.1709_*1810del	INF2	ENSG00000203485.14	transcript	ENST00000392634.9	protein_coding	23/23	5163	INFO_REALIGN_3_PRIME	chr14	TogoVar
INPP5A_chr10_132532787_132788480	132596855	GTGCATGT others(95): Show GTGCATGTGTGTGCATGTGTGTGCATGCACGTGTGTTTGGAGGCTCCTGT GCATGTGTGCATGTGTGCGCGCATGTGCACGCATGTGTGCGTGTGTGCAC ACA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01952.hp1 HG02015.hp2 others(4): Show HG01109.hp2 HG01952.hp1 HG02015.hp2 HG04199.hp2 NA18945.hp2 NA18971.hp2 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 others(4): Show a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0010g0047 a0001c0001t0010g0048	7	202	0.0347	-102	c.76- others(17): Show c.76-11057_76-10956del	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
INPP5A_chr10_132532787_132788480	132719729	GCTGTCTT others(95): Show GCTGTCTTCAGGGTTCTGTGGTACCTGGGTTCTTTCTGTGTGCCTTAGAC GGCTGTCTTGTGGGTTCTGTGGTGCCTGGGTTCTGTCTGGGCACCTTAGA CGA	G G	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	202	0.0050	-102	c.648 others(17): Show c.648-7066_648-6965del	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
IPCEF1_chr6_154149496_154361803	154357856	TATATAAA others(95): Show TATATAAAATATATATATATATAAAATATATATATATAATATATATATAA AATATATATATATAATATATATATAAAATATATATATATAATATATATAT AAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp1 HG02895.hp1 HG02897.hp1 HG02723.hp1 HG02895.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0142 a0001c0001t0005g0149 a0001c0001t0005g0150 a0001c0001t0001g0142 a0001c0001t0005g0149 a0001c0001t0005g0150	3	261	0.0115	-102	c.-13 others(11): Show c.-1348_-1247del	IPCEF1	ENSG00000074706.14	transcript	ENST00000367220.9	protein_coding		1054		chr6	TogoVar
IQCE_chr7_2553979_2619728	2577788	ACGCATTG others(95): Show ACGCATTGGCGTGTGCGTGGCTGTGCGCGCGGGGACGTGTGTGCGGCGTG CGCGCATTGGCGTGTGCGTGGCTGTGCGCGCGGGGACGTGTGTGCGGCGT GCC	A A	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0364 a0002c0002t0002g0364	1	282	0.0035	-102	c.466 others(15): Show c.466-449_466-348del	IQCE	ENSG00000106012.19	transcript	ENST00000402050.7	protein_coding	6/21		INFO_REALIGN_3_PRIME	chr7	TogoVar

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